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{
"age": 56,
"case_id": "PMC6417290_01",
"case_text": "A 56-year-old HIV-positive male was admitted to our institution for knee arthralgia and submitted to knee prosthesis. The patient's pharmacological treatment at entry consisted in antiplatelet, antiviral, and analgesic medication. His full blood count and clotting were within normal range. Electrocardiography and chest X-ray were normal.\nSA was performed in sitting position at L3-L4 level on the midline, using a 27-gauge SPROTTE needle BROWN (only one puncture) with 20-gauge epidural catheter; 12.5 mg of Chirocaina 0.5% was administered for analgesia with an optimal efficacy. He underwent knee prosthesis surgery that lasted 114 min. The surgical procedure was uneventful. On the 2nd day, the patient complained of headache with the typical features of postural headache without other neurological symptoms or signs, in particular, there was no nuchal rigidity. PDPH was diagnosed and treatment with paracetamol and ketorolac, bed rest therapy, and hydration started. On the 4th postoperative day, the patient was pain free and he could be discharged 4 days later with anticoagulant therapy.\nTwo days after discharge, the patient complained of severe headache and presented at our emergency department. Neurological examination was normal. The patient was discharged after hydration, corticosteroid (Soldesam 8 mg/die) was prescribed, and bed rest ordered.\nDue to the persistence of headache and the change in the headache's characteristic, even being present in clinostatism, the patient visited again the emergency room; neurological examination was once again normal. In consideration of the persistence of headache in clinostatism, we decided to perform a brain computed tomography (CT) scan, which showed a bilateral subdural hematoma, larger on the right side (12 mm) causing a left-sided brain shift of about 5.3 mm [Figure 1]. The patient was hospitalized at the neurosurgical unit. Antiplatelet medication was suspended. Initially, given the absence of neurological deficit and in light of the dimensions of the bleed, which were borderline for surgical intervention, we adopted for a conservative treatment which consisted in bed rest, hydration, and analgesia. Four days later, the patient complained again of worsening headache, so we performed a brain CT scan which showed an increase in density of the subdural collection with an increase in brain shift [Figure 2]. Considering that the conservative treatment was not sufficient, we considered and proposed a subdural hematoma evacuation, which the patient accepted. Surgical procedure was performed under general anesthesia and was uneventful. The postoperative CT scan showed the evacuation of the blood collection with reduction of the midline brain shift [Figure 3]. The patient reported a significant reduction of his headache. At this point, deambulation was commenced. On the 3rd postoperative day, the patient again complained of worsening of headache with accompanying photophobia. A brain CT scan was performed demonstrating a reformation of the subdural hematoma on the right side larger than that one before surgery; hydration, analgesia, and bed rest were again implemented [Figure 4a and b]. Nine days after the intervention, a cranial CT showed a further increase of the subdural blood collection with brain shift [Figure 4c]. At this point, as the only hematoma evacuation was not sufficient, we decided performing a lumbar blood patch and a surgical re-evacuation of the subdural hematoma. Lumbar blood patch was performed at L3-L4 level with midline approach, and 15 cc of a solution composed by the patient's blood, iopamiro, and fibrin glue was introduced through a Tuohy needle under fluoroscopic control. The surgical procedure was uneventful. Intraoperative fluoroscopy control showed a good extension from L2-L5 level. Surgical procedure of hematoma evacuation was regular. Radiological control showed a complete evacuation of subdural hematoma with decrease of the intracranial structure shift of the midline. The patient reported a complete resolution of headache. Three months after surgical procedure, the patient was symptom free, and CT scan showed a complete resolution of the subdural hematoma without brain shift [Figure 5].",
"gender": "Male"
}
] |
PMC6417290
|
[
{
"age": 74,
"case_id": "PMC4854227_01",
"case_text": "A 74-year-old man with a history of dyslipidaemia, impaired glucose tolerance, and cholelithiasis, came to our attention because of dyspepsia and dorsal pain lasting for two months. He underwent an upper gastrointestinal (GI) endoscopy showing a submucosal nodule in the gastric antrum, and an abdomen ultrasonography (US) showing multiple gallstones and a 3 cm pancreatic body lesion.\nA chest-abdomen contrast medium Computed Tomography (CT)-scan detected a pancreatic body lesion of 26 mm axial diameter (O) with pancreatic duct dilation and perilesional lymphadenopathy with 15 mm O. Endoscopic US (EUS) with fine-needle aspiration (FNA) showed a 37 mm O hypoechoic and inhomogeneous lesion comprising mesenteric-portal axis without a clear infiltration (uT3uN0, AJCC 2010). Cytology was conclusive for anaplastic/undifferentiated pancreatic carcinoma. Immunohistochemical (IHC) analysis was positive for cytokeratin AE1-AE2, negative for S-100 protein, Melan-A, chromogranin-A (CgA), synaptophysin (Syn), and CD-56.\nOn this basis after discussion within the gastrointestinal multidisciplinary team (GI-MDT), a diagnostic laparoscopy plus intraoperative US were performed showing no evidence of peritoneal carcinomatosis but infiltration of splenic artery and upper mesenteric vein were seen. A peritoneal washing cytology (PWC) revealed the presence of neoplastic cells (Figure 1). Following a further multidisciplinary discussion, systemic chemotherapy was therefore proposed. The patient was asymptomatic; his performance status (PS) was 0 Eastern Cooperative Oncology Group (ECOG). Because of the particular histotype, he was not eligible for first-line chemotherapy trials, therefore a regimen with cisplatin (60 mg/mq day 1 every 21) and gemcitabine (1000 mg/mq days 1, 8, every 21) was decided on an individual scale and administered outside clinical trials (Figure 2). After day one of the second cycle, treatment was delayed because of thrombocytopaenia, and definitively discontinued because of unstable clinical status for acute lower limb peripheral neuropathy and appearance of upper abdominal pain. In the meantime, given the time from the start of chemotherapy, a restaging C-scan was performed, showing an increased pancreatic lesion (46 mm O) with dilatation of the Wirsung duct, and multiple pathological lymph nodes in the retroperitoneal region. As a result, we assumed that the patient had a metastatic disease, based on the radiological features (morphology, dimension, rapid growth, and contrast enhancement of paraaortic lymph nodes) and clinical evaluation (increased level of Ca 19.9, deterioration of the patient's clinical condition and the previously positive peritoneal cytology). On this basis a third GI-MDT discussion indicated a second-line systemic chemotherapy with modified FOLFIRI (folinic acid 200 mg/mq; irinotecan 180 mg/mq; bolus fluorouracil (5-FU) 400 mg/mq; continuous infusion 5-FU 2400 mg/mq) at 70% of the conventional dose.\nFurthermore, because of the particular pattern of progression (expansive rather than infiltrating primary tumour growth) and its local symptomaticity, a locoregional palliative procedure was discussed.\nTherefore, after the fourth cycle of chemotherapy the patient underwent high-intensity focused ultrasound (HIFU) ablation on the pancreatic lesion. The treatment was performed with computerised axial scanning and power Doppler to evaluate the effect of ablation on the artery engaged. The patient was placed in a prone position on the HIFU table, and then we verified that the abdomen skin was in very close contact with degassed water. The treatment was performed with vertical scanning mode separated by 5mm-distance between each slice. HIFU ablation was performed using the JC-HIFU system (Chongquing Haifu-HIFU-Tech, Chongquing, China). The procedure was supervised by real time US; the diameter of transducer that issues US energy was 20 cm with a focal length of 15 cm and a frequency of 0.8 MHz. The software used for the real time imaging unit was MyLab70 imaging device (Esaote, Genova, Italy). This 1.0 to 8.0 MHz imaging probe is located in the centre of the HIFU transducer. Treatment was carefully monitored with US guide and finished when the lesion showed a large part of coagulation necrosis in the centre. The duration of HIFU ablation was about 90'. At the end, US revealed an extended necrosis area on the pancreatic lesion. A CT-scan performed the day after revealed a 56 mm O pancreatic lesion and paraaortic lymphadenopathies. After HIFU the patient received five more cycles of modified FOLFIRI. A CT-scan performed six weeks after HIFU revealed a reduction of the pancreatic head lesion (45 mm versus 56 mm O) and of the left paraaortic lymph nodes (15 mm versus 33 mm O). A restaging CT-scan after four months from the HIFU treatment revealed a further reduction of the pancreatic lesion (38 mm versus 45 mm O) and left paraaortic lymph nodes (8.4 mm versus 15 mm O).\nThe patient became totally asymptomatic after HIFU. Chemotherapy was well tolerated and is still ongoing.",
"gender": "Male"
}
] |
PMC4854227
|
[
{
"age": 14,
"case_id": "PMC5406521_01",
"case_text": "A previously healthy 14-year-old girl with no medical, social or surgical history complained of a gradually enlarging mass on her left shoulder over the period of two months, with no pain or constitutional symptoms. On examination, there was a 5 x 6 cm cystic mass at the upper border of her left scapula, with soft and intact overlying skin. The cyst was freely mobile with no signs of localized inflammation. Clinical examination also revealed markedly decreased breath sounds over the lower right lung field. The serological tests were within normal limits. chest x-ray showed a rounded regular density in the right lower lobe (Fig. 1). Computed tomography confirmed the presence of a 10 x 8 cm cystic mass within the lower lobe of the right lung (Fig. 2A), a 5.5 x 4.5 cm cystic mass within the muscular components over the left scapula, and a 2 x 1.5 cm cystic mass within the right lobe of the liver (Fig. 2B). T1-weighted MRI images of the left shoulder cyst revealed a low signal intensity cystic mass with a low intensity rim and high signal intensity on T2-weighted images within the thickness of left trapezius muscle (Fig. 3C and D).\nDecision was made to manage both lung and shoulder cysts surgically with one operation following 2 weeks of medical treatment with albendazole because of the extraheptic involvement of the former and the superficial location prone to trauma of the latter. The right lung lesion was approached firstly through a right thoracotomy in the 5th inter-costal space, and the 10 x 6 cm cystic mass in the right lower lobe (Fig. 4) was excised by means of aspiration, injection of 20% hypertonic saline and re-aspiration and then the germinal membrane then was enbloc excised. Bronchial fistulas and the remainder cavity were closed with 2.0 vicryl (absorbable) suture. A second incision was made over the left shoulder cyst. A 5 x 4 cystic mass was found within the thickness of the left trapezius muscle, and was enucleated taking care not to induce any leak (Fig. 5) and the remainder cavity was closed with 2.0 vicryl stuture. Complementary medical therapy with albendazole was continued for 3 months. The patient had been followed up for the next three months after surgery there were no signs of recurrence at the lung and trapezius cysts sites. The liver cyst reduced in size.",
"gender": "Female"
}
] |
PMC5406521
|
[
{
"age": 61,
"case_id": "PMC3420418_01",
"case_text": "This paper discusses the sexual homicides of four victims, of both genders and different ethnicities, by a male 61-year-old African-American ordained Baptist Minister, in Los Angeles and San Diego Counties, over an 11-month time period, during the years 2000 and 2001. (The subject has given his full informed consent for the author to disclose all information pertaining to this case and his personal life.) The above brief review on the topics of serial murder, sexual homicide, and necrophilia will be compared with the particulars of this case. The actual acts of the perpetrator and his subjective viewpoint during the murders, in combination with crime scene information and psychological test data, will be utilized to create a comprehensive depiction of the factors that precipitated the decision to murder four human beings. Each homicide will be examined according to three distinct stages: the period during which Mr. D. met the victim and engaged in consensual activity, the period of coercive sexual activity, and Mr. D.'s postmortem sexual activity with his victims. A fourth stage, the disposal of the body, will be covered only briefly. The quotes included are Mr. D.'s verbatim statements regarding his subjective experience. (Clinical interview of the subject lasted 19 hours and was videotaped. The entire interview was transcribed verbatim.)\nIn late May of the year 2000, when he was 59 years of age, Samuel D. met an apparently homeless African-American female, a casual acquaintance of his in her early 20's, on a street near his apartment in Los Angeles. (\"Alicia's\" body was never found. Mr. D. was convicted of this crime based on his admission to this homicide and three others, forensic details of which corroborated his report.) He \"became curious\" as to whether he could engage the woman in sexual activity and explicitly denied during interviews subsequent to the murder the existence of coercive or homicidal fantasies at this juncture. The two walked back to Mr. D.'s apartment, showered together, and engaged in consensual fondling. Mr. D. supplied Alicia with alcohol, crack cocaine, and marijuana. He did not use any substance. The two engaged in multiple vaginal intercourse for a period of between 24 and 48 hours, by Mr. D.'s estimate: \"there was a period of at least a day or so that she would have been there nude the whole while. And having sex with me ... like constantly.\"\nConsensual sexual activity was brought to an end when Alicia expressed a desire to leave Mr. D.'s apartment. When asked if her refusal to continue to have sex with him was frustrating, he stated, \"I didn't like it. If I got mad I wouldn't know that I got mad.\" In sequence, Mr. D. reported that the following occurred: he prevented Alicia from exiting his bedroom by blocking the doorway with his body; he \"struck her a few times in the face,\" to incapacitate her and quiet her struggling; he used stereo speaker wire as ligature to bind the victim's hands and feet behind her back, legs bent at the knee with feet in the air: \"I tied her so that her buttock area, her vaginal area would be exposed.\" He was questioned on his conscious motivations for binding Alicia. He reported \"I don't want her to leave, I want to keep her. All I wanted was to fuck, I kept telling her that.\" He was also asked whether the act of binding the victim was sexually arousing to him: \"I don't remember feeling sexual at all during that time, aroused or anything. The [ligature] was just to like make her still in the position I wanted her in.\"\nIn contrast to his claim, evidence on each victim for which information is available suggests that Mr. D.'s use of either ligature or violence was extreme, and more than adequate than that which would be used only for restraint. For example, Mr. D. gagged Alicia with a blouse, sweater or washcloth (He was unable to remember precisely). When she would not quiet, he threatened her with a butcher knife approximately 12 inches long by 1.5 inches wide, by holding it above her chest in a stabbing gesture. He verbally threatened to kill her. Mr. D. was asked if he thought the victim was frightened (at this point she was bound, gagged, and was being threatened with a butcher knife). He replied \"I don't think so.\" It is possible that the deficit in affect from which Mr. D. suffered, which facilitated both the lack of empathy for others and his use of predatory violence, rendered him unable to recognize the extreme nature of his behavior. It is also possible, however, that his denial of sadistic sexual pleasure is related to his knowledge that the level of violence used in his crimes would lead to a harsher penalty during the sentencing phase of his legal case.\nMr. D. stated that he felt \"something akin to anger or frustration\" at Alicia's constant struggling. He reported that, for the first time, he thought of drugging Alicia with the sedating tricyclic antidepressant amitriptyline. The medication was in 25 mg tablet form, which he placed in the victim's vagina and rectum. Mr. D. also fed the victim through a straw, into which he had placed medication. When sedation took effect, the victim's struggles quieted. She remained bound and gagged. He now began to anally rape the victim, and when questioned on her emotional state at this point, he reported \"she reacted as if it was ... extremely painful ... [but] I don't know what her reactions mean, I can only guess. They don't give me a clue even now.\" \nMr. D. was asked to report on his subjective state, at the point in time at which he had immobilized his victim and her anus and vagina were exposed for his use. He reported \"I could do what I want now. This girl is under my control. There are no barriers, there's no resistance. Unlimited sex is here.\" Mr. D. then anally and vaginally raped this victim for a period of approximately 24 hours. He was asked what he felt for Alicia during this time: \"nothing, except here's a body.\"\nSexual activity ended after approximately 48 hours of consensual sex and 24 hours of coercive sex, when the victim died while being raped. Mr. D. denied any acute action by him that led to the victim's death. In each homicide for which information is available, however, strangulation has been listed as one possible cause. \nMr. D. continued to have anal and vaginal sex with the corpse, without pause from pre- to postmortem, for a period of roughly 48 hours. The corpse remained on his bed, bound and gagged. He covered the victim's head with a cloth he found in his room, secondary to revulsion at the sight of her face, which was bloated and swollen from his blows. He was asked what was specifically arousing to him regarding sexual intercourse with a corpse. He responded \"It was just here's a hole, basically.\" For the first time since her arrival, Mr. D. climaxed and ejaculated inside the victim's vagina. \nAfter roughly two days of nearly continuous sex with the corpse, Mr. D. \"couldn't stand the smell or sight\" of the body anymore, and carried it from the bed to the bathtub. He reported that he had read a book on Jeffrey Dahmer and developed the idea to dispose of the body by pouring onto it bleach, liquid Plumr. lye, drano, and other solvents, in attempts at \"dissolving it.\" The body remained in the tub during the events of the second homicide.",
"gender": "Male"
},
{
"age": 37,
"case_id": "PMC3420418_02",
"case_text": "Approximately one week after he had murdered Alicia, Robyn W., a 37-year-old, African-American female acquaintance of Mr. D. appeared alone and unannounced at his door. Mr. D. quickly engaged Robyn in sexual conversation, and she agreed to enter his apartment. \nConsensual sexual activity consisted of multiple vaginal and anal intercourse, for a period of between 24 and 48 hours. As he had done with Alicia, Mr. D. bought the victim crack cocaine, which she smoked at his apartment, and Cisco wine; once again, he did not use substances. Robyn's statement to Mr. D. regarding her desire to leave the apartment to care for her children, signaled the onset of coercive activity. He \"pinned\" Robyn to the bed by sitting on her chest, and then bound her in a fetal position, so that he could \"get at ... either her pussy or her butt ...where I could stand up on the bed and fuck her with her facing up, on her back, with her feet and knees in the air. (The defendant placed pillows underneath Robyn so that he could have easier access to her vagina and anus as he stood on the bed.)\" When asked of his subjective experience at this point, Mr. D. stated \"I have control of them now. All the tying and drugging had achieved was to let me have sex like uninterrupted without ... fighting, because ... that detracted from it for me.\" Once again, Mr. D. denied sadistic arousal from the victim's pain. The specifics of the behavioral evidence, however, suggest otherwise. \nRobyn began to plead with Mr. D. and mentioned that she had children. Mr. D. reported that he \"ignored it,\" though may have said to her \"I told you what I wanted.\" He threatened her with the same knife he had used with Alicia. After he had restrained her with ligature, he gagged Robyn with a sweater he found on his bed, which was fastened into place with wire. He pulled another sweater over her head, covering her entire head and mouth. (This action was likely motivated by twin desires: to denigrate the victim and to heighten his own sense of control.) In contrast to his actions with Alicia, perhaps because he remembered the struggle which had ensued, Mr. D. immediately drugged Robyn with amitriptyline by inserting two to three tablets into her vagina. He then anally raped this victim:who remained bound, gagged, and drugged:for a period of between 36 and 48 hours, by his estimate. He denied any conversation: \"there was no reason for conversation ... there was no way she could stop it.\" After carrying Robyn to a corner of his bedroom and covering her with clothes and linens, Mr. D. left the bedroom for his kitchen, where he remained for between 15 and 60 minutes. He returned to the bedroom intent on continuing to have sex with Robyn, but reported that she was dead upon his entrance to the room.\nThe coroner's report of this death stated that death occurred from \"apparent multiple ligature strangulation,\" and \"possible blunt force trauma to the head and face.\" Mr. D. stated to two investigators and to myself that Robyn died while he was away from the room. He stated during a separate psychological evaluation that Robyn died during the act of being anally raped. Although he denies it, medical evidence suggests that Robyn died secondary to a volitional act from Mr. D.: either manual strangulation or blunt force trauma to the head.\nMr. D. reported that \"the fact that [Robyn] wasn't physically responding was not a problem.\" He did not remove the ligature from Robyn postmortem and stated that as he continued to have sex with the body he did not want to ejaculate because \"climaxing ended the sex. I [would have] had to stop. It was just sex, just sex, just sex and I didn't want it to end.\" Mr. D. remains uncertain whether he ejaculated inside the corpse of Robyn. After roughly two days of nearly continuous vaginal and anal sex with Robyn's corpse, Mr. D. \"pushed\" the body of his second victim into the bathtub, on top of his first victim. Like in the first homicide, the odor of the decomposing body, and the lividity change, precipitated his decision to discontinue sex.\nMr. D. stated that during the time period between the death of Robyn and the death of his next victim, he began to consider abducting a person to keep as his \"sexual slave.\" He considered keeping the person either in a \"hiding place\" outside his apartment, and then transporting the victim to his home for sex, or inside the organ he had at his apartment. Around this time, he wrote a short narrative which makes clear that, while the death of Alicia may have been \"accidental,\" as he claimed during investigation after his confession, his subsequent behavior was planned, purposeful, and predatory. Mr. D. wrote: \"tools of the trade:cable wire, clothes, necktie (regarding his use of ligature, Mr. D. stated to me that he would use \"anything that was nearby ... like a necktie.\" This statement appears to belie that suggestion; it appears that ligature was chosen before the crimes, for specific purposes), gag-rope (and the search for more), better gag, then stocking cap and later, wire mask to keep in on. c*r got them off several times. (Why didn't they scream?-fear of drugs. Need hand and leg cuffs:too many escapes. (learning the ropes) getting them on (g kept gedding loose and r same flysr kept waking up and moving things as if she knew what was coming ...\"\nEither accidentally or deliberately, Mr. D. found an activity that suited his sexual appetites. He had no internal prohibitions in the form of conscience or fear of punishment which would preclude drugging, bondage, and rape. During our interview, Mr. D. took exception to my use of the term \"serial killer\" to describe him self. In responding to me that although he did not \"see\" himself as a serial killer, he stated that he might have \"killed more had the opportunity or circumstances been different.\" After he had committed his first murder, Mr. D. decided to kill again by using similar methods.\nApproximately 7 to 14 days after he had killed Robyn, Mr. D. met his next victim, Salvador, a mentally disabled Hispanic male approximately 36 years of age. Mr. Reyes, according to Mr. D., approached him and offered sex in exchange for $15. Mr. D. accepted and the two walked from the street to Mr. D.'s apartment.\nConsensual sexual activity consisted of multiple anal intercourse for a period of roughly four hours. Mr. D. assumed the dominant \"top\" position and did not allow Mr. Reyes to penetrate his anus. They did not kiss. (Kissing is perhaps the most affectionate sexual activity. Mr. D. either kissed his victims before they were bound or drugged, as a predatory \"grooming\" behavior, or did not kiss them at all.) During this intercourse, Mr. D. decided that Salvador \"was not ever going to leave ... I wanted to keep him there with me.\" He equated Salvador to a \"sex toy\" and to a \"sexual slave.\"\nMr. D. drugged Salvador by giving him a beer into which he had placed amitriptyline. He also inserted tablets into Salvador's anus. He then gagged him and put a nylon stocking over his head. Salvador's struggles irritated Mr. D., and the two \"began fighting.\" Mr. D. again denied being sexually aroused by the act of binding the victim, by his pleas, or by the obvious pain the victim was in. He anally raped Salvador for approximately two days and one night, by his estimate. During times when Mr. D. left the apartment when Salvador was still alive, he carried him by the ligature to a closet. Upon his return, he transported Salvador back to his bed, to continue to rape him. \nSalvador died while being anally raped. Mr. D. was asked what he had done to precipitate Salvador's death. He responded \"nothing I knew except just fucking him.\" Mr. D. did not pause at the time of death, but \"went on\" anally raping Salvador, and continued to do so for between 24 and 48 hours, by his estimate. He was asked if it was more arousing to have sex with a live person or with a corpse. He stated \"it didn't make any difference. I don't remember it being any different.\" Mr. D. continued to engage in sexual activity with the corpse of Salvador until the body began to smell, at which point he put the still-bound body into a plastic bag, carried it down the stairs and placed it into a shopping cart, which he used to transport the body to a local park.\nOn Saturday, 28 April 2001, approximately 11 months after he had committed his first homicide, Mr. D. traveled to San Diego to take part in a poetry reading at a local book store. He and his male companion arrived too late for the reading and were rescheduled; Mr. D. chose to spend the rest of his night in San Diego at a bath house frequented by gay males, for the purpose of engaging in anonymous sexual activity.",
"gender": "Male"
},
{
"age": 46,
"case_id": "PMC3420418_03",
"case_text": "Soon after his arrival at the bath house, he attempted to place several amitriptyline tablets he had brought with him from Los Angeles in the anus of a sleeping Black male; this man awoke briefly and pulled the sheet on which he was laying tighter around his body, which precluded Mr. D. from drugging him. He next engaged in simultaneous sexual activity with three men. During this, Gary B., a 46-year-old gay Caucasian male stranger approached him and expressed a desire for sex with the defendant, alone. Mr. D. refused, though after he had completed the sexual act with the other males left to find Gary. \nThe two engaged in consensual anal intercourse at the bath house, after which Gary invited Mr. D. to his apartment in San Diego. They arrived at the apartment in the early morning hours of Sunday 29 April. Although Mr. D. had planned to drug Gary's food early during this time, he did not because Gary did not eat with him. They again engaged in multiple consensual anal intercourse for a duration of several hours. They parted company during the day of Sunday and met that evening at Gary's apartment, where Mr. D. watched pornographic videos. \nAt approximately 5 P.M. the two engaged in multiple anal intercourse for a period of several hours, during which Mr. D. drugged Gary with amitriptyline and diphenhydramine. The method of drugging, in contrast to his activity with previous victims, was to insert the tablets into the foreskin of his penis, then insert his penis into Gary's rectum. After a long period of sexual activity, Gary informed Mr. D. that he wished to discontinue the sexual activity and wanted to sleep so that he could go to work that morning. Mr. D. unplugged the clock in Gary's room to prevent him from knowing the time. He later told investigators that the victim's statement regarding his desire to stop having sex \"irritated\" him. He got up from the bed and, in a sullen gesture, went into the living room. Gary appealed to Mr. D. to either come back to bed and sleep or leave his apartment.\nMr. D. was angry at Gary for not giving him what he wanted, and felt rejected and insulted by his suggestion that he leave. He stated to investigators that Gary's statement, \"set [him] off ... I was upset he didn't let me do what I wanted to do.\" Gary, said Mr. D., \"should have let me do what I needed to do. (Mr. D.'s statement to investigators is similar to his statement to Robyn, during the time she was bound, gagged, and fighting him: \"why you fighting me? I told you what I wanted.\" The absence of empathy, and presence of entitlement, leave Mr. D. irritated and perplexed by his victim's actions.)\" Mr. D. next returned to the bed and attempted to insert his penis into the sleeping Gary's rectum. He recognized that Gary was \"trying to let [him] know\" that he wanted to sleep, which further angered him. Mr. D. successfully inserted his penis, however, and the two had anal intercourse for between 30 and 35 minutes.\nAs Gary's resistance weakened, Mr. D. \"took over and did what [he] wanted to do,\" which was to anally rape him. Gary again began to struggle, and Mr. D. attempted to bind him with ligature. He used a plastic coated wire cord to tie one of Gary's ankles to the bed. He used shoestrings and attempted to tie his hands together, but Gary was able to struggle free. At this point, Gary began to scream, whereupon Mr. D. attempted to gag him with a dark blue towel. He then left the bedroom and went to the kitchen, where he found an electric \"bread dough mixer,\" similar to a rolling pin. He returned to the bedroom and struck Mr. B. twice in the head with this instrument, intending to \"knock him out.\" From behind, Mr. D. grabbed Gary around his neck, with his right arm, and shoved large amounts of petroleum jelly into his nose and mouth to quiet his screams.\nMr. D. reported to police investigators that Gary died during this struggle, after he had \"pulled up\" on his mouth with his left hand. The coroner's report stated cause of death as asphyxia, either from \"forcible covering of the mouth\" or from \"pressure on the neck.\"\nRegarding Gary's death, Mr. D. stated \"he just slumped over and stopped moving. I ... decided he must be dead. Then I went back and tried to put him on the bed so I could have more sex with him.\"\nMr. D. used ligature to bind the body in a fetal position postmortem, to aid his attempt at placing Gary's body back on the bed, so that he could have anal intercourse with the corpse. However, he soon discontinued his attempt, after coworkers called Gary's house to check on his whereabouts, and instead dragged the body into a bedroom closet. He filled four plastic trash bags with the victim's belongings, unplugged the telephone, and attempted to carry the bags from the apartment. The bags broke; Mr. D. then took \"what [he] thought might have [his] name on it,\" and Gary's checkbook and apartment and car keys and exited the apartment.\nSeveral days after killing Gary, Mr. D. returned to San Diego by bus, intent on \"taking off\":robbing:the apartment. He saw police tape across the door frame of the apartment and thought better of entering. He did, however, use the victim's car keys to steal his vehicle and drove back to Los Angeles.\nOn 17 May 2001, Mr. D. was arrested in Los Angeles for the theft of Gary's vehicle. On 01 August, while in custody in San Diego after being charged with auto theft (Mr. D. was originally charged with auto theft and murder; the latter charge had been dropped at the time of his confession), Mr. D. approached a correctional counselor and stated \"you're going to go down in history. God is telling me to tell you [of the four murders]\" he had committed.\nMr. D. also left several living victims, whom he either attempted to drug, rape, or kill. Several days after killing his second victim, in June 2000, Mr. D. resumed sexual encounters with a \"light skinned\" Black male in his early 20's. The two had engaged in sexual intercourse on several occasions in the recent weeks, either at Mr. D.'s apartment or at a local park in Los Angeles. After Robyn's death, Mr. D. attempted to drug this man by encouraging him to drink beer into which he had dissolved amitriptyline and by attempting to insert tablets of the medication into his rectum. He reported that although the man drank the beer, he did not become sedated to the point that he could do as he hoped, which was to bind and rape him. When asked whether he would have killed him, Mr. D. reported that he \"probably\" would have tried to \"keep him.\"\nDuring the same time period, between the time of Robyn's death and the death of Salvador, Mr. D. also drugged a longtime friend of his, Michael T., with whom he had often engaged in consensual anal intercourse, by giving him drug-tainted beer. However, Michael may have been using crack cocaine at the time and sedation did not take effect. If it had, Mr. D. reported that he would have bound and raped Michael.\nMr. D. had originally met Robyn through a young Black male named Tyrone B., who, according to Mr. D., was either her boyfriend or pimp. During the summer of 2000, prior to Robyn's death, Tyrone broke into Mr. D.'s apartment while he was sleeping. It soon became clear to Mr. D. that Tyrone was going to use his apartment as a \"crash pad,\" and had no intention of leaving. In response to this, for a period of one week Mr. D. put amitriptyline in Tyrone's Kool Aid and into the food he gave him. He did not have either consensual or coercive intercourse with Tyrone.\nIn June or July 2000, in the weeks after he had disposed of Salvador's body, Mr. D. had sex with two Black females, one of whom came to his apartment on several occasions, whom he did not attempt to drug or bind. A third Black female, who refused to have sex with him, also visited his home during this time period. While she was sleeping in his bedroom, Mr. D. dressed in overalls and a woman's white fur coat. He pulled \"greenish\" colored netting over his face and fastened it around his neck. He snuck into the bedroom, intent on binding her with the ligature he had recently begun to collect. Mr. D. accidentally caused a television set to fall over, which caused the woman to stir in bed. Mr. D. \"raced\" out of the room, removed the disguise (\"I [could] say to her, someone was in here, someone tied you up.\") and then reentered the bedroom. He reported that he did not speak to the women and she did not question him regarding who had been in the bedroom. Mr. D. denied ever successfully binding this woman and stated that she simply \"walked away.\"\nIn the days before the murder of Salvador, in June 2000, and continuing for a period of several months, Mr. D. drugged his lover of four years, Tom B. He reported that \"things about [Tom] were constantly perturbing\" him, including his belief that Tom continued to grieve the death of his former lover (\"face reality, he's dead. What's wrong with me? I'm alive\"), that he controlled the amount of time the two spent together, and that he controlled the type of sexual activity the two engaged in. All of these were felt by Mr. D. as humiliating and gave rise to deep resentment. Mr. D. reported that he had reached a point at which he was \"not only trying to be dominant over [Tom], but run his life.\" He told Tom that what God wanted was for him (Tom) to be his lover.\nAfter the murder of Salvador, Mr. D. began to drug Tom's food, by crushing medication in a small bowl and putting it in food he gave him, then by putting it in boxes of cereal, in milk, ice cream and cream for the coffee, and in the ice Tom used in his drinks. He reported that his goal was to keep Tom constantly drugged, so that he could have sex with him whenever he came to the house. During an argument between the two over the telephone, Mr. D. told Tom that he had killed three people, something which was motivated by a desire to \"make [Tom] obey\" him by frightening him into submission. Mr. D. told Tom that he was continuing to kill and at one point told him that he had murdered 30 people. Regarding this strategy, Mr. D. stated, \"this makes him listen to me.\"\nMr. D. also considered killing Tom while he slept. He stood above him and thought of twisting a stereo wire around his neck, of striking him in the head with a hammer, and of using ligature to tie him to the bed and killing him there. He denied ever actually attempting any of these. After roughly two months of drugging Tom, Mr. D. told him of his actions. He stated to him \"I didn't want to kill you. I didn't want to drug you, but you're making me do it. If you listen to me and do what I ask and don't make me mad ... I try to tell you how to get along with me, and you won't do it. I don't want to hurt you. I care for you.\" After this, the two apparently reconciled. Soon thereafter, Mr. D. became embittered by a perceived slight from Tom and again began drugging him. This time, Tom recognized what was being done and confronted Mr. D., who again told Tom that if he would simply do as he was asked, he would not have to resort to such measures.\nMr. D. was born and raised in Wilmington, NC, USA, in 1940, one of six children born to a Baptist Minister father and a homemaker mother. He denied any history of known developmental problems or delays, denied a history of physical or sexual abuse, and denied any juvenile history of arrest or involvement with social services. He described excellent academic achievement and ultimately graduated from a small liberal arts college in Ohio, in 1962.\nHis psychiatric history is positive for episodes of both depression and mania, during which he would go without sleep, suffer delusions, hallucinations, racing thoughts, grandiosity, and massive agitation. For example, after he had committed his first three murders, Mr. D. traveled to Little Rock, Ark, USA, where he heard the voice of God telling him to \"herald the end of the world.\" He was taken to a psychiatric hospital for a brief period and released without antipsychotic medications. Mr. D. denied, however, active symptoms of either mania or psychosis during the time period of the murders.\nMr. D. freely reported that he had \"conned and hustled\" all his life, beginning with thefts as a child. His first arrest occurred in 1962, at age 22, when, apparently by accident, he struck another vehicle with his own and killed its occupant. He was charged with second-degree manslaughter and sentenced to six months in jail. In 1963, Mr. D. was arrested for burglary and breaking and entering, which involved thefts from a local high school. In 1968, he was arrested for manslaughter, second-degree burglary, and larceny, in 1976 for grand theft, in 1985 for alien smuggling, in 1990, twice, for disorderly conduct and soliciting a lewd act, and in 1997 for assault with a deadly weapon.\nMr. D. also reported a prolific and deviant sexual history, with an onset beginning prior to his adolescence. Specific behaviors included exposing himself, public masturbation, fetishism (involving the insertion of objects into his rectum, such as broom handles, carrots, zucchini, water hose, stool leg), and frottage of children and adults of both sexes, as well as staring at the genitals of various animals, including horses. He additionally reported extensive sexual activity with the following animals: chickens, mules, goats, pigs, dogs, cows, and cats. (I was somewhat incredulous regarding Mr. D.'s report of sex with animals. However, the specifics of his report appear to lay to rest any doubt. For example, he reported that he disliked penetrating goats because, unlike other animals, the fecal matter inside the anus was hard and crusty and chafed his penis.) He admitted to six previous victims of child molestation, all adolescent males, and to professional sexual misconduct, which involved sexual intercourse with parishioners. He additionally reported massive use of prostitutes, sexual affairs, and anonymous sexual activity with strangers.",
"gender": "Male"
}
] |
PMC3420418
|
[
{
"age": 54,
"case_id": "PMC9062931_01",
"case_text": "A 54-year-old female presented to hospital with status epilepticus. She had a previous history of subarachnoid hemorrhage (World Federation of Neurological Surgeons' Grade II) due to a ruptured aneurysm at the bifurcation of the right middle cerebral artery that was treated by open clipping surgery when the patient was 44 years old. The initial computed tomography (CT) revealed a low-density area around the right central sulcus, apparently involving the primary motor area. Magnetic resonance imaging (MRI) demonstrated an intracerebral mass lesion that showed diffusion restriction, hypointensity on T1-weighted images, and hyperintensity on T2-weighted images [Figures 1a-c]. The epilepsy was controlled with medication, but the patient became increasingly drowsy in the days that followed. Repeat CT examinations revealed a hematoma and associated edematous change around the lesion and progressive expansion of the hematoma despite efforts to control blood pressure and treatment by hemostatic agents [Figures 2a and b]. The patient showed considerable neurological decline and semi-emergently underwent hematoma evacuation and decompressive frontotemporal craniectomy.\nHistopathological sections revealed numerous red blood cells with fibrin and debris and massive infiltration of atypical round blue cells [Figure 3a]. Atypical cells demonstrated clumped nuclear chromatin pattern and eccentric eosinophilic cytoplasm [Figure 3b] suggesting plasma cell origin. Immunohistochemistry study showed CD138 positivity [Figure 3b; inset] and in situ hybridization demonstrated uniform lambda light chain positivity and negative kappa signal, reinforcing the diagnosis of plasma cell neoplasm [Figures 3c and d].\nFurther imaging studies performed following the diagnosis, including F-18 fluorodeoxyglucose positron emission tomography and bone scintigraphy, revealed no involvement of other organs. Serum and urine electrophoresis showed no increase in monoclonal protein. Bone marrow biopsy showed plasma cell infiltration of 5%-10%, but without light chain restriction. A final diagnosis of PISP was confirmed. Although the patient was obtunded and showed severe left hemiparesis soon after the surgery, correlating with the focus of the lesion in the right central sulcus, postoperative CT revealed apparent brain decompression [Figure 4a]. She showed a dramatic recovery over time, finally becoming alert and conscious. Postoperative MRI demonstrated extensive near-total resection of the lesion with small residual tumor at the periphery of the cavity [Figures 4b and c]. She underwent intensity-modulated radiation therapy (IMRT) with a total dose of 50 Gy in 25 fractions. The lesion showed an excellent response to IMRT, showing a complete disappearance on MRI [Figures 4d and e]. There were no signs of tumor relapse at the 3 years follow-up visit. After intensive rehabilitation, the patient has resumed her daily life as a housekeeper.",
"gender": "Female"
}
] |
PMC9062931
|
[
{
"age": 14,
"case_id": "PMC4735083_01",
"case_text": "A 14-year-old girl living in Hebei, China presented with a 2-week history of progressive ulcers in her right preauricular skin. These lesions initiated as swelling and nodules with severe itching after a precursor of facial palsy, which was treated topically with herbal plaster. The nodules soon developed to progressive ulcers and kept enlarging. She had a medication history with cephalexin and topical dexamethasone in local clinic after suspected with cellulitis and vasculitis, however, without improvement. The girl had no history of immune disorders and diabetes mellitus. There is no family history of lymphoma, vasculitis or metabolic disorders.\nOn examination, the patient was afebrile. Her blood investigations and liver and renal function tests were within normal limits. Nodules and ulcers with marked boundary were seen on her right preotic skin (Fig. 1A). Little pus was seen within the ulcers. Biopsy was sampled on the ulcer for bacteriological and fungal culture and for histopathological examination (Fig. 1B).\nHistopathology revealed vasculitis with thromboses, granulomatous inflammatory infiltration with lymphocytes, macrophages and a few multinucleate giant cells (Fig. 2A). Grocott's methenamine silver (GMS) staining showed actinomycetes-like mycelia within vessel walls and thrombi (Fig. 2B) while they could be seen as clusters or chains from the epidermis to the subcutaneous tissues (Fig. 2C and D). Mycological culture was negative for fungi while bacterial culture was positive with creamish white colonies, later identified as bacterium. The bacterium was identified using VITEK II automatic bacteria identification system and the drug susceptibility done by the Kirby-Bauer method. Antimicrobial susceptibility testing results were determined in accordance to the United States performance standards for antimicrobial susceptibility testing CLSI-M100.S21. The organism was sensitive to minocycline, meropenem, levofloxacin and ceftazidime, intermediate to ceftriaxone and resistant to cefaclor, cephalexin and aztreonam.\nThe patient was treated with minocycline at the dosage of 50 mg twice daily and topical mupirocin cream. Ulcers and swelling began to shrink soon after treatment administration and healed within 3 weeks (Fig. 1B and C). She remains well two year after and the facial palsy has never relapsed.",
"gender": "Female"
}
] |
PMC4735083
|
[
{
"age": 78,
"case_id": "PMC9139337_01",
"case_text": "A 78-year-old man was admitted due to recurrent fever and fatigue for past one year. Two weeks prior to admission, his fatigue intensified, and the highest temperature reached 39.5C. He had lost 5kg over the past year and had a history of cerebral infarction and hypertension. On examination, the patient was febrile at 38C. His C-reactive protein (CRP) (62.49 mg/dl), procalcitonin (0.213ng/mL) and erythrocyte sedimentation rate (84 mm/h) were elevated. Computed tomography (CT) of the chest revealed diffusely distributed nodules in both lungs, bilateral bronchiolitis, and tuberculosis could not be excluded. The aortic arch was thickened and the local calcified plaque moved inward, which indicated further aortic computed tomography angiography (CTA) examination (Figure 1). Echocardiography revealed no vegetation in the mitral and aortic valve areas. The chest CTA confirmed multiple atherosclerosis and ulcers, and intermural hematoma in the aortic arch and thoracic aorta. Combined with the medical history, the involvement of tuberculosis in the aorta should be highly suspected (Figure 2). Re-examination of lung CT revealed bronchiole lesions and multiple miliary foci in both lungs, which were larger than one week prior, with pleural effusion, and slightly thickened pleura, suggestive of miliary tuberculosis (Figure 3). The T cell spot test, sputum culture, and sputum GeneXpert test were positive for Mycobacterium tuberculosis and GeneXpert indicated sensitivity to rifampicin. Since disseminated tuberculosis was definite and the patient's disease potentially involved the major thoracic vessels, anti-tuberculosis and steroids were initiated immediately. Methylprednisolone was administered at 40mg/day for 3 days, 20mg/day for 3 days, 8mg/day for 3 days, 4mg/day for 7 days, and then discontinued. Due to liver dysfunction, with alanine aminotransferase of 161U/L and aspartate aminotransferase of 203U/L, a regimen consisting of meropenem 1 g every 8 h, linezolid 0.6 g once daily, amikacin 0.4 g once daily, and levofloxacin 0.5 g once daily was administered. Surgical consultation concluded that no immediate surgical intervention was needed because the aortic wall was not ruptured. On normalisation of liver function, the anti-tuberculosis regimen was changed to isoniazid 0.3 g once daily, rifapentine 0.45 g twice a week, linezolid 0.6 g once daily, ethambutol 0.75 g once daily, levofloxacin 0.5 g once daily. After two weeks of treatment, the patient's body temperature returned to normal, and a re-examination of the lung CT indicated that the lesion was partially absorbed (Figure 4). The patient was discharged and continued to receive oral medications. We planned the follow-up to be weekly initially, gradually transitioning to every two weeks, and then monthly after stabilisation. Routine blood, liver and kidney functions were examined at each follow-up visit. Sputum smears and cultures were performed monthly. Pulmonary CT was re-examined two months later, and aortic CTA was re-examined four months later. The patient tolerated and was compliant with anti-tuberculosis drugs.",
"gender": "Male"
},
{
"age": 61,
"case_id": "PMC9139337_02",
"case_text": "A 61-year-old woman presented with intermittent low back pain that persisted for past one month. The pain worsened within one week and became unbearable. Three months previously, the patient was admitted to a local hospital for productive cough. Lung CT showed suspicious TB lesions, and T-SPOT was positive. After excluding other diseases, the local hospital started diagnostic anti-tuberculosis treatment consisting of HRZE. The patient took the medication irregularly because of gastrointestinal reaction. A physical examination revealed no abnormalities. Laboratory results were white blood cells, 7.22x109/L; hemoglobin, 122 g/L; platelets, 216 x109/L; CRP, 32.97 mg/dl; and procalcitonin, 0.213ng/mL. The sputum GeneXpert test result was positive and sensitive to rifampicin. Multiple infections and diffuse miliary nodules in both lungs suggested tuberculosis. Thoracic and abdominal aortic CTA examination showed a 51x28 mm2 pseudoaneurysm arising from the lower abdominal aorta, surrounded by a patchy shadow and lymphadenopathy (Figure 5). Combined with the patient's medical history, tuberculous aortic pseudoaneurysm was considered. Emergency digital subtraction angiography was performed after admission, and two coated stents were implanted in the abdominal aorta and iliac artery. Angiography showed that the stents were well- positioned, blood flow was smooth, and a pseudoaneurysm did not develop. The patient was discharged from the hospital 2 days post-operation and received anti-tuberculosis drug treatment, including isoniazid 0.6 g once daily, rifapentine 0.45 g twice a week, ethambutol 0.75 g once daily, pyrazinamide 0.5 g three times daily, and moxifloxacin 0.4 g once daily. Abdominal aortic CTA performed two weeks later revealed that the aneurysm did not recur (Figure 6). Our follow-up plan was consistent with that of the patient in case 1. The patient tolerated the anti-tuberculosis drugs well.",
"gender": "Female"
}
] |
PMC9139337
|
[
{
"age": 51,
"case_id": "PMC8285566_01",
"case_text": "A 51-year-old diabetic (HbA1c: 7.1%, National Glycohemoglobin Standardization Program (NGSP)) male patient developed severe M. abscessus pneumonia, although he had been treated with clarithromycin (CAM) 800 mg/day, minocycline (MINO) 100 mg/day and levofloxacin (LVFX) 500 mg /day orally for three years before the bacterium was isolated (Figure 1A). His initial white blood cell (WBC) count was 11,700/L, C-reactive protein (CRP) was 18.5 mg/dL, and HbA1c was 7.8 (NGSP). P. aeruginosa was also isolated from his sputum.\nAfter admission, he received CAM 800 mg/day, intravenous imipenem/cilastatin (IPM/CS) 3 g/day and amikacin (AMK) 10 mg/kg/day, with improvement in his chest radiograph findings and inflammatory markers, such as WBC count (5400/L) and CRP level (0.86 mg/dL). His clinical parameters, such as inflammation, chest X-ray, and nutritional status have since been well controlled with outpatient administration of CAM 800 mg/day and SFTX 100 mg/day for a year, and M. abscessus has not been further isolated. Liver dysfunction and diarrhea, as side effects of SFTX, have also not occurred.",
"gender": "Male"
},
{
"age": 78,
"case_id": "PMC8285566_02",
"case_text": "A 78- year-old diabetic female (HbA1c: 6.6%, NGSP) was admitted due to exacerbation of Mycobacterium pulmonary infection (Figure 1B). She weighed less than 40 kg and was initially suspected to have MAC infection, although M. abscessus was isolated by bronchoscopic analysis after three weeks. S. aureus was also isolated from her sputum although she had been receiving erythromycin (EM) 200 mg/day as an immune-modulatory agent, along with the anti-diabetic agent, sitagliptin phosphate hydrate 50 mg/day. Subsequently, relatively low doses of CAM 600 mg/day and SFTX 50 mg/day were started as outpatient treatment, with no further recurrences of pneumonia or M. abscessus isolation from sputum. Liver dysfunction and severe diarrhea did not occur and her weight increased above 40 kg.",
"gender": "Female"
},
{
"age": 63,
"case_id": "PMC8285566_03",
"case_text": "A 63-year-old male with heart failure and DM (HbA1c: 6.1%, under observation without anti-diabetics), who had been receiving voriconazole 300 mg/day orally for chronic pulmonary aspergillosis, was admitted for follow-up because of exacerbation of pulmonary symptoms. He received oral LVFX 500 mg/day as outpatient therapy for pneumonia, but with no improvement. His chest x-ray worsened and M. abscessus was isolated from his sputum, although A. fumigatus was not isolated (Figure 1C). Combination therapy with CAM 800 mg/day, IPM/CS 3 g/day and AMK 10 mg/kg/day were started after admission, with significant improvement in his condition. He was effectively treated and has been maintained with CAM 800 mg/day and SFTX 100 mg/day, respectively for 6 months, with no liver dysfunction or diarrhea, and no further isolation of M. abscessus after SFTX commencement.",
"gender": "Male"
},
{
"age": 54,
"case_id": "PMC8285566_04",
"case_text": "A 54-year-old male patient with chronic heart failure with pacemaker implantation and DM was admitted because of suspected pneumonia (Figure 1D). His initial WBC count was 6400/L, C-reactive protein (CRP) was 6.8 mg/dL, and HbA1c was 6.4% (NGSP) on sitagliptin phosphate hydrate 50 mg/day. He received LVFX 500 mg/day intravenously, with no improvement. Subsequently, M. abscessus and P. aeruginosa were isolated from his sputum twice.\nWe changed the antibiotic regimen to CAM 800 mg/day, intravenous IPM/CS 3 g/day and AMK 10 mg/kg/day, which resulted in improvement in his chest radiograph findings and inflammatory markers: WBC (3400/L) and CRP (1.02 mg/dL). His condition has since been well controlled with CAM 800 mg/day and SFTX 100 mg/day as outpatient treatment. Although M. abscessus was subsequently isolated, recurrent pneumonia and side effects were not observed.",
"gender": "Male"
},
{
"age": 74,
"case_id": "PMC8285566_05",
"case_text": "A 74-year-old female patient under treatment for DM (HbA1c: 5.8%, NGSP) that was well controlled with sitagliptin phosphate hydrate 50 mg/day was admitted for sudden hemosputum, and underwent emergency bronchial artery embolization. Her chest X-ray showed infiltrative shadows with cavity formation (Figure 1E), and M. abscessus was isolated from her sputum. Her serum was strongly positive for MAC antibodies (6.8 U/mL), although MAC was not isolated from sputum. We started CAM 600 mg/day and SFTX 50 mg/day therapy, and her condition has been stable since then and hemosputum has not recurred, and with no further M. abscessus isolation. Her liver and gastrointestinal functions remained stable.\nThe M. abscessus isolated from all five patients had relatively high susceptibility/low minimum inhibitory concentration (MIC) to CAM, but lower susceptibility/higher MIC to IPM/CS and AMK in vitro, although all these agents were clinically effective (Table 1). For drug susceptibility analysis, the broth microdilution method was performed according to Clinical and Laboratory Standards Institute (CLSI) guidelines, using a 96-well round bottom microtiter plates kit (Kyokuto Co. Ltd. Tokyo, Japan). Briefly, the prepared MIC plates were incubated aerobically at 30 C. MICs were measured on day 3 or 4 and compared with control wells without antibiotics, showing sufficient bacterial growth. MIC was defined as the lowest drug concentration at which bacterial growth was not visualized. The isolated organisms were resistant to most of the other antibiotics, including levofloxacin and moxifloxacin. Clofazimine and SFTX were found to be effective against the isolated M. abscessus strains in all five cases.",
"gender": "Female"
}
] |
PMC8285566
|
[
{
"age": 40,
"case_id": "PMC3350215_01",
"case_text": "A 40-year-old African-American female with a history of idiopathic familial cardiomyopathy was being evaluated for heart transplantation. Eleven months earlier, she had a CT abdomen performed as part of a cardiac transplant workup which revealed a 1.5 cm enhancing left upper pole renal mass (Figure 1). Given her age, it was possible that this lesion was a benign tumor such as angiomyolipoma or oncocytoma. Therefore, she underwent a CT-guided biopsy of this mass to reconcile the issue prior to heart transplant. This biopsy proved inconclusive due to insufficient tissue, and a second attempt was made under conscious sedation six months prior to LVAD placement. This attempt had to be aborted when she developed severe chest pain and dyspnea preventing adequate sampling. As her ejection fraction worsened, she became progressively dyspneic at rest and received a Heartmate II LVAD (Thoratec Corp., Pleasanton, CA). After much discussion of options, she underwent a CT-guided biopsy under general anesthesia which revealed oncocytic-type cells with fine needle aspiration but again was nondiagnostic. By the time the patient developed severe decompensated heart failure necessitating LVAD placement, the mass had grown to 2.7 cm (Figure 1). \nThe patient had a past medical history of a nonischemic cardiomyopathy and resultant heart failure manifested by orthopnea, dyspnea on exertion, paroxysmal nocturnal dyspnea, palpitations, and angina. Transthoracic echocardiogram revealed a dilated and hypertrophic left ventricle with a left ventricular ejection fraction of 10-15% with no significant valvular pathology. Cardiac catheterization revealed the absence of coronary artery disease. She had undergone an implantable cardiac defibrillator due to her diminished ejection fraction, but the device had never discharged. \nPreoperatively, physical examination revealed a well-nourished, well-developed woman (70 kg, BMI 23.4) who was an active participant in decision making. She carried the LVAD in a satchel and had the expected vital signs for a patient with an LVAD. She had a well-healed scar over her sternum and upper abdomen. Trace pedal edema was present. Laboratory examination revealed hemoglobin of 9.2 g/dL, serum creatinine 0.9 mg/dL (estimated glomerular filtration rate 92 mL/min), international normalized ratio (INR) 2.6, and negative urine culture.\nThe decision was made to perform partial nephrectomy due to the imaging characteristics and growth rate of the mass and the imperative to clear her of a potential renal cell carcinoma in the setting of cardiac transplant listing. Given the need for future immunosuppression, the cardiologist, urologist, and cardiac surgeon felt that maximization of nephrons outweighed the risk of transient bleeding that may have been avoided by performing a radical nephrectomy. Percutaneous ablative approaches were not considered due to tumor location. The cardiology team assisted in medically maximizing the patient preoperatively. The patient was preadmitted to the urology service to facilitate the coordination of care. She was given a gentle bowel preparation of magnesium citrate along with one day of clear liquids. She was maintained off warfarin for 3 days preoperatively with therapeutic-dose enoxaparin which was discontinued the morning of surgery. Her INR on admission was 1.5. Anesthesiology was consulted, and the case was coordinated to ensure that a cardiac anesthesiologist administered general anesthesia. Additionally, the cardiac surgeon was available in the operating room the morning of the surgery. \nGeneral anesthesia was initiated, and an arterial line was placed with the cardiac surgeon standing by. Extensive padding was utilized with respect to the LVAD as the patient was positioned in the left modified flank position. To avoid excessive pressure points, the kidney rest was not utilized. From a retroperitoneal approach just off the eleventh rib, the kidney was freed and the hilum dissected. At no point did the LVAD present any difficulties. The lesion was not readily identified on gross inspection. Intraoperative ultrasound revealed the mass in the superior pole abutting the collecting system. After injection of 6 mg of mannitol, the renal artery was clamped and then iced. After fifteen minutes of cooling, the capsule was scored with argon plasma coagulation and resection of the mass was performed with the blunt edge of a knife handle. Inferior and deep margins were sent for frozen examination and found to be negative for tumor. The collecting system was closed with 4-0 poliglecaprone suture. Argon plasma coagulation was performed to the resection bed. A Surgicel (Ethicon, Inc., Somerville, NJ) bolster and Avitene powder (Alcon, Inc., Humacao, Puerto Rico) were placed in the defect. The defect was closed with a 0-chromic suture on a liver needle bolstered with a strip of polytetrafluoroethylene (PTFE) pledget both anteriorly and posteriorly. Unclamping was performed for a total clamp time of 59 minutes, and the kidney was observed for 15 minutes. FloSeal (Baxter International Inc., Deerfield, IL) coagulation matrix was applied to the defect and hilum and argon plasma coagulation was performed on some oozing portions of Gerota's fascia. Gerota's fascia was then used to cover the kidney again. A 1.5 cm defect in the pleura was closed with 2-0 polyglactin, and the air was evacuated with a red rubber catheter. A Jackson-Pratt drain was left in the retroperitoneum to bulb suction, and the wound was closed. The patient was extubated and transferred to the cardiac care unit for postoperative care. The patient received at total of 3 units of packed red blood cells and one unit of fresh frozen plasma. Estimated blood loss was 500 mL.\nPostoperative chest radiograph revealed no pneumothorax. Warfarin and enoxaparin were resumed on postoperative days two and four, respectively. Furosemide was restarted on postoperative day number one. The patient had her diet quickly advanced, and pain was controlled on oral narcotics. She was up and ambulatory, tolerating a low-sodium diet and had all of her heart failure medications restarted. Her Jackson-Pratt drain was removed on postoperative day number 4, and she went home on postoperative day number 6. Final pathology revealed clear cell RCC 2.6 x 2.0 x 1.5 cm with negative margins, Fuhrman grade 3 (high grade). The serum creatinine upon discharge was 0.8 mg/dL (eGFR 103 mL/min).\nHer managed care consortium mandated postdischarge urologic care be performed at an outside institution. Her postoperative check was unremarkable, but at her 6 month followup she was experiencing worsening left flank pain. CT scan of the abdomen revealed a radiodense material over the superolateral aspect of the left kidney (Figure 2). The final impression stated that there was a retained laparotomy sponge, and the patient was informed that she would require further surgery. This distressed the patient, and she immediately wanted to return to the original surgeon, but the managed care consortium required prior approval which caused a 2-month delay in return to our clinic for evaluation. Upon reevaluation, plain abdominal radiographs were obtained in both the posterior-anterior and oblique orientations. This did not reveal ribbon-like radiopaque material which would be consistent with a retained laparotomy sponge (Figure 3). Reassurance was provided.",
"gender": "Female"
}
] |
PMC3350215
|
[
{
"age": 7,
"case_id": "PMC4226570_01",
"case_text": "This study was reviewed by the Department of Ophthalmology, Wuhan General Hospital of Guangzhou Military Command on Clinical Investigation and it conformed to the tenets of the Declaration of Helsinki. The seven-year-old girl and her family were referred to the Department of Ophthalmology, Wuhan General Hospital of Guangzhou Military Command on Clinical Investigation. After informed consent was obtained, all participants underwent six ophthalmologic examinations, including best-corrected visual acuity, slit-lamp, and fundus examination with dilated pupils to exclude infection or other diseases. Ophthamoscopic findings were recorded by color fundus photography. Optical coherence tomography (OCT, Topcon 3D-1000 Mark II, Tokyo Japan) was used to examine the retinal structure. Spectral-domain OCT (SD-OCT) recording with 3D macular protocol was performed with 6-mm single line scans over the fovea. In detail, the 3D macular protocol consists of a radial-scanning composed of 512x128 scan resolution covering an area of 6x6 mm in the macular region. The patient underwent fundus fluorescein angiography (FFA) and visual field examination. Clinical diagnosis was based on the results of the above-mentioned ophthalmologic examinations.\nBlood samples were obtained by venipuncture and genomic DNA was extracted according to the manufacturer's protocol (TIANamp Blood DNA Kit, Tiangen) as described in our previous report. For sequencing, the entire coding region and adjacent intronic sequences of 14 coding regions of the RPE65 gene were amplified by PCR, using the primers in Table 1. PCR products were purified with the AxyPrep DNA Gel Extraction Kit (Axygen, CA, USA). All PCR products were bi-directionally sequenced with the dideoxy nucleotide chain terminator technique. Sequencing was performed on an automated sequencer - ABI 3730XL DNA Analyzer (ABI, USA). The results were assembled and analyzed using the Applied Biosystems Sequencing Analysis 5.2 software. Sequences were aligned with the published cDNA sequences of RPE65 gene (GenBank accession no. NM_000329). We also assessed the potential functional consequences of nucleotide changes using multiple web servers for mutation analysis such as PolyPhen-2 (Polymorphism Phenotyping, http://genetics.bwh.harvard.edu/pph-2/), SIFT (Sorting Intolerant From Tolerant, http://sift.jcvi.org/), and Automated Splice Site and Exon Definition Analyses (http://splice.uwo.ca/) with default parameters.\nThe 293T cell line was purchased from the Type Culture Collection of the Chinese Academy of Sciences (Wuhan, China) and cultured in Dulbecco's modified Eagle's medium (DMEM, GIBCO) supplemented with 2 mM glutamine, 10% fetal calf serum (FBS, GIBCO), 100 UI/ml penicillin, and 100 microg/ml streptomycin sulfate. The Cells were maintained at 37 C in a 5% CO2 incubator until confluent, then sub-cultured at 1:3 to 1:10 dilutions using trypsin-EDTA.\n RPE65 mutated minigenes (pCIneo-m65) were constructed by subcloning the c.1243+2T>A mutation from the patient into pCI-neo vector (Promega, Madison, WI). The wild-type minigene (pCIneo-65), without the c.1243+2T>A mutation, was generated by subcloning the genomic DNA of her father. PCR-amplified exons (11, 12, and 13) of the RPE65 gene were inserted at the EcoRI/SalI restriction enzyme site in pCI-neo vector. Primers and conditions used in the PCR amplification of the inserts were listed in Table 1. The corresponding DNA inserts were confirmed by sequencing.\nTo analyze the effects of the c.1243+2T>A mutation on splicing in vitro, 293T cells were transfected with RPE65 minigenes. Prior to transfection, cells were seeded with a density of 4.0x105 cells per well in a six-well plate and grown to approximately 80% confluence. RPE65 minigene used in this study was transfected into cells with Lipofectamine 2000 reagent (Invitrogen) by using 2 microg of DNA per well. After 24 h transfection, cells were serum starved for another 24 h before harvest. Total RNA was extracted from cells using TRIzol reagent (Invitrogen) according to the manufacturer's instructions. DNase I (Promega) was used to treat the RNA extract to eliminate DNA contamination. 1.0 microg of treated RNA was used as a template for reverse transcription using the First Strand cDNA Synthesis Kit (TOYOBO). The exogenous RPE65 minigene transcript was amplified using F1 and R1 primers (Table 1) and the fragment sizes of the wild and mutant PCR products were detected by 2% agarose gels electrophoresis and stained with ethidium bromide. To confirm the nucleotide sequences, the wild and mutant PCR products were purified from the gel and sent for sequencing.",
"gender": "Female"
}
] |
PMC4226570
|
[
{
"age": 28,
"case_id": "PMC3785357_01",
"case_text": "A 28-year-old man, presented with a history of pleuritic right chest pain and haemoptysis for 2 days. The pain was intermittent and worse when he lies down and improved in standing position. It did not radiate, and was no reproducible with palpation. He also noticed a small amount of blood in the sputum but denied any traumatic injury, and he did not have other symptoms such as dyspnoea, fever, chills, night sweats of weight loss.\nSix years earlier a sclerosing mesenteritis with retroperitoneal lymphadenopathy, hypoplasia of the inferior vena cava, and thrombosis with cavernomatous transformation of the portal vein have been diagnosed, and he was treated with prednisone and acenocoumarol. Moreover, a diagnosis of common variable immunodeficiency had been made four years before, and the patient was started on monthly regimen of intravenous immunoglobulin.\nHe was an ex-smoker of 15 pack-years since one month before admission, and consumed 2-3 alcoholic drinks on occasional weekends. His current medications included prednisone (10 mg/day), colchicine, enalapril, weekly risedronate, and acenocoumarol. He had neither recent travel history, nor noticed environmental exposures, and his family history was unremarkable.\nThe patient was in good health status with normal body weight and had normal vital signs. Chest examination showed no abnormalities. Neither lymphadenopathy nor organomegaly were detected. The reminder of physical examination was unremarkable except for the presence of collateral circulation in the anterior abdominal wall and both legs.\nHemogram, blood chemistry profile and urinalysis were within normal limits. The international normalized ratio was 1.97. Sputum and blood cultures were sterile. He tested negative for human immunodeficiency virus (HIV). An electrocardiogram showed a normal sinus rhythm. As plain chest radiography showed no abnormalities, an iodine-based contrast enhanced thoracic multidetector computed tomography (CT) was performed. A rounded peripheral well-defined nodule, 1.23 cm in diameter, was detected in the right lung basis (Fig. 1). There was no evidence of lymphadenopathy. To rule out malignancy he underwent a 18-fluorodesoxiglucose positron emission tomography (FDG-PET) scan which showed intense focal uptake in the nodule with a degree of activity highly suspicious of neoplastic origin (Fig. 2A and 2B). There were no other metabolically active lesions in the lungs. Although a fine needle aspiration biopsy was considered, it was thought prudent to confirm the diagnosis with complete excision of the nodule by video-assisted thoracoscopy. The procedure was performed without complications and resection specimen was collected and sent for pathologic analysis (Fig. 3) and a diagnosis of pulmonary cryptococcosis was made.",
"gender": "Male"
}
] |
PMC3785357
|
[
{
"age": null,
"case_id": "PMC5484609_01",
"case_text": "A baby born at 37 weeks, one of twins, was admitted to the intensive care unit with tachypnea and hypothermia with an increased hamatocrit (70%). He had a single umbilical artery detected on fetal ultrasound examinations, but no other accompanying anomalies were identified.\nAbdominal ultrasound findings were as follows: dilatations of the right-left portal vein, a thin hypoechoic tract between the right portal vein and inferior vena cava (IVC) (Figure 1A). Color Doppler US confirmed blood flow in these vessels (Figure 1B, 1C). The DV was not detected in the normal anatomical location. It became clear that the tract was an alternative intrahepatic porto-caval shunt that was carrying oxygenated blood from the right portal vein to the IVC during fetal life. Blood flow through the shunt gradually decreased on follow-up Doppler ultrasound examinations which closed on the 33rd day since birth and became a thin, hyperechoic ligamentous structure equivalent to the 'ligamentum venosum' (Figure 1D).",
"gender": "Male"
}
] |
PMC5484609
|
[
{
"age": 81,
"case_id": "PMC9792275_01",
"case_text": "An 81-year-old woman was admitted to our institution due to prominent bilateral leg oedema and orthopnoea concomitant with 8 kg of weight gain in 3 months after four courses of trastuzumab therapy to treat HER-2 overexpressing breast cancer. She was prescribed with irbesartan 100 mg/day, amlodipine 10 mg/day, febuxostat 10 mg/day, and ibandronate 100 mg/month for hypertension, hyperuricaemia, and osteoporosis, respectively. In September 2021, she underwent mammectomy for Stage IIb breast cancer with high proliferative activity (Ki 67, 63%), negative hormone receptors, and HER-2 overexpression. After surgery, she received adjuvant therapy with trastuzumab (loading dose of 8 mg/kg followed by a maintenance dose of 6 mg/kg) at one dose every 3 weeks. She noted bilateral leg oedema and diarrhoea, 9 weeks after the initiation of anti-HER-2 targeted therapy, which progressively worsened after four courses of treatment. Although she was referred to a general cardiologist, the patient was not diagnosed with CTRCD due to the absence of LV systolic dysfunction [LV ejection fraction (LVEF) of 70%] paired with a nonspecific elevation of brain natriuretic peptide (BNP) level of 57.3 pg/mL. After 15 weeks of treatment with trastuzumab, dyspnoea, general fatigue, orthopnoea, and anorexia developed, and the patient was eventually diagnosed with heart failure.\nOn admission, her blood pressure was 176/68 mmHg, heart rate was 69 beats/min, and oxygen saturation was 93% (room air). Physical examination revealed hepatomegaly, jugular vein distension, and prominent bilateral leg oedema. On auscultation, a SIII gallop with no cardiac murmur was observed. On admission, the NT-proBNP concentration was 1525 pg/mL (normal value <125 pg/mL) and the Troponin I level was 32.6 pg/mL (normal value <26.2 pg/mL). Electrocardiography indicated a normal sinus rhythm with first-degree atrioventricular block and a nonspecific T-wave inversion on precordial leads. Chest radiography and computed tomography revealed bilateral pleural effusion with significant cardiomegaly (Figure 1AandB), in comparison with the patient's preoperative images which did not show any pleural effusion (Figure 1CandD). Transthoracic echocardiography revealed that LV contraction was preserved without any ventricular remodelling (Figure 2), and the LVEF was calculated at 62% using the bi-plane Simpson's method (see Supplementary material online, Videos S1-S3). Moreover, no significant reduction in GLS was observed compared with results obtained before anti-HER-2 targeted therapy (from -16.5 to -14.6%; relative reduction of 11.5%, Figure 3). In contrast, the left atrial volume index (LAVI) and tricuspid valve regurgitant jet velocity increased from 48.8 to 85.1 mL/m2 and 2.5 to 3.2 m/s, respectively. Doppler echocardiography showed that the transmitral flow pseudonormalized (E/A ratio; from 0.70 to 1.30), e' velocity was reduced (e' septal 5.1 cm/s and e' lateral 6.0 cm/s), E/e' ratio was elevated from 14.3 to 19.1, and pulmonary venous flow changed from a systolic component dominant to a diastolic component dominant pattern (Figure 4), all of which indicated elevated ventricular filling pressure as a result of the development of LV diastolic dysfunction. The patient was consequently diagnosed with decompensated heart failure, and combined treatment with diuretics (torasemide 8 mg/day, spironolactone 25 mg/day, and trichlormethiazide 2 mg/day for 14 days), arteriodilators (amlodipine 5 mg/day and olmesartan 20 mg/day), and venodilators (carperitide 0.125 mug/kg/min for 7 days) was introduced, resulting in the complete disappearance of pleural effusion and peripheral oedema concurrent with a reduction in body weight of 8 kg in over 3 weeks. After successfully achieving volume reduction, the patient underwent cardiac catheter examination to further assess her haemodynamic status (Table 1). Notably, the mean pulmonary artery wedge pressure was elevated to 18 mmHg without any systolic dysfunction or LV dilation, indicating LV diastolic dysfunction.\nAfter a thorough discussion with her breast surgeon, trastuzumab was discontinued. At discharge, the patient was treated with 3.75 mg of tolvaptan, 200 mg of sacubitril valsartan, 5 mg of amlodipine, 25 mg of spironolactone, and 30 mg of azosemide. At 12 weeks after the interruption of trastuzumab administration, her heart failure symptoms significantly improved to New York Heart Association functional Class I; thus, maintenance medication was reduced to 5 mg of amlodipine and 200 mg of sacubitril valsartan. As shown in Figure 4, Doppler echocardiographic parameters of diastolic function, including E/A of 0.60, E/e' of 14.3, and LAVI of 57.1 mL/m2, significantly improved.",
"gender": "Female"
}
] |
PMC9792275
|
[
{
"age": 38,
"case_id": "PMC2799640_01",
"case_text": "A 38-year-old woman with a history of pulmonary thromboemboli of seven months' duration was referred to our hospital for further evaluation. The patient had suffered from cough, dyspnea and transient hemoptysis. The patient had also undergone resection for a pelvic lymphangioma two months previously. At that time, pelvic MRI had demonstrated the presence of a large cystic mass with many septations and no involvement of the adjacent organs in the pelvis (Fig. 1A).\nA physical examination revealed no vital sign abnormalities. Levels of pro-BNP (B-type natriuretic peptide) and D-dimer were mildly elevated to 196.2 pg/ml (normal range, 0-97.3 pg/ml) and 486 microg/L (normal range, 0-324 microg/L), respectively. However, peak serum levels of creatine kinase-MB fraction (CK-MB), troponin T, other blood chemistry findings and blood counts were within normal ranges. An initial plain chest radiograph demonstrated reduced volume of the right hemithorax and a paucity of pulmonary vascular markings on the right side (not shown). Perfusion lung scanning using Tc-99m macro-aggregated albumin identified the absence of perfusion throughout the right lung, indicating occlusion of the right main pulmonary artery (Fig. 1B). Transthoracic echocardiography (TTE) performed for the evaluation of persistent dyspnea demonstrated the presence of a mobile echogenic tumor adhering to chordae and papillary muscles of the tricuspid valve at the right atrium and right ventricle chordae. The tumor extended from the IVC into the right heart and caused tricuspid regurgitation (Fig. 1C, D). Chest CT confirmed the presence of an elongated non-enhanced mass in the right chambers of the heart and in the IVC, with extension to the right distal pulmonary artery (Fig. 1E, F). A median sternotomy was performed and the tumor was resected. Despite the presence of a neoplastic thrombus in the IVC, excision was straightforward except for resections of an adhesive chordal portion and a web-like tumor, which occluded the right distal pulmonary artery (Fig. 1G). Postoperative recovery was excellent, and the patient was extubated the day after surgery and was discharged to the general ward on day-2 postoperatively. At seven days postoperatively, the patient underwent follow-up TTE that demonstrated the absence of any residual mass inside the cardiac chambers (data not shown). The postoperative period was uneventful and the patient was discharged at day-15 postoperatively.\nSpecimens from the IVC, right heart and right pulmonary artery were all diagnosed as cavernous lymphangiomas without features of malignancy. Grossly, the contiguous 29 cm long mass was a well-circumscribed, gray-white tumor with a soft, rubbery consistency (Fig. 1G). Based on the histology, the tumor consisted of dilated lymphatic channels with variable wall thicknesses (Fig. 1H). Lumina were lined with attenuated, bland endothelial cells. A few lymphocytes and rare lymphoid follicles were observed in the surrounding stroma, and a small number of disorganized bundles of smooth muscle were present in the walls of larger channels. Atypical features, such as, endothelial tufting, atypia and mitotic activity of lymphatic endothelium were absent, and based on immunohistochemical staining, tumor cells were positive for lymphatic vessel marker D2-40 (Fig. 1H, insert) and CD31.",
"gender": "Female"
}
] |
PMC2799640
|
[
{
"age": 73,
"case_id": "PMC10250735_01",
"case_text": "A 73-year-old European woman presented with abnormal vaginal discharge. On clinical vaginal examination, a brown pigmented flat lesion of 2 x 2 cm was seen on the posterior vaginal wall just beyond the vaginal introitus. The lateral and anterior walls of the vagina did not show any abnormalities. No inguinal lymphadenopathy was found. Her medical history included only hypertension. She was a non-smoking female, gravida 4:para 4, with four vaginal deliveries. Her surgical history included a bilateral salpingo-oophorectomy and an appendectomy. Her family history showed her mother died of metastatic breast cancer.\nA primary excisional biopsy was performed, and pathology reports showed a malignant melanoma with a minimal diameter of 20 mm and a thickness of 8 mm. There was no lympho-vascular or perineural invasion. The margins were positive on the lateral and distal sides. The patient was subsequently referred to our tertiary cancer center for robotic oncological surgery. Preoperative imaging involved magnetic resonance imaging (MRI), ultrasound scan of the groins, and FDG-positron emission tomography/computed tomography (PET-CT) scan. All of these investigations did not reveal any lymphadenopathy nor distant metastases. To exclude primary melanoma from other sides such as ocular melanoma, an ophthalmologic investigation was performed, which did not reveal any pathology. On the basis of these investigations, a primary melanoma from another side was excluded. The patient was clinically staged according to the 2009 International Federation of Gynaecology and Obstetrics (FIGO) staging for vaginal cancer as FIGO-stage I (cT1bN0M0) and according to the American Joint Committee on Cancer (AJCC; eighth edition) for (cutaneous) Melanoma Staging as clinical stage IB (T4bN0M0, with T4: >4 mm thickness and b: with ulceration). The patient was planned for a combined vaginal and robotic en bloc resection of the total vagina and uterus, in order to achieve a complete resection of the vaginal melanoma, together with a pelvic sentinel lymph node dissection.\nThe robot da Vinci Xi platform (Intuitive Surgical Inc., Sunnyvale, CA, USA) with near-infrared fluorescence imaging (Firefly technology) was used. As a fluorescent agent, indocyanine green (ICG: Verdye 25 mg, Diagnostic Green GmbH , 85609 Aschheim-Dornach, Germany) was used at a concentration of 1.9 mg/mL H2O. A total of 2 mL ICG was used for the patient and 0.5 mL was injected, just beyond the vaginal introitus, in the submucosa of the anterior, posterior, and lateral vaginal walls.\nA robotic pelvic bilateral sentinel lymph node dissection was performed prior to the en bloc resection of the uterus and total vagina (Figure 1).\nVaginal approach: circular incision, with diathermy, of the vaginal mucosa just inside the vaginal introitus.\nSubsequent dissection of the distal 3 cm of vagina, with releasing the vagina anteriorly from the urethra, posteriorly from the rectum, and laterally on both sides from the bulbocavernosus muscle.\nRobotic approach: sealing/cutting of the round ligaments with an opening of the retroperitoneal space at the pelvic side walls.\nUreterolysis: traction medially on the peritoneum of the broad ligament with subsequent ureterolysis, while keeping the mesoureter intact, down to the level of the crossing with the uterine arteries.\nSealing of the uterine arteries at its origin, close to the internal iliac artery, and lateral from the ureters.\nTraction of the bladder peritoneum toward the anterior abdominal wall (with robotic Cadiere forceps) and sealing/cutting of the uterine arteries on the uterus, both ascending and descending branch down to the vaginal edges.\nPreparation for the robotic vaginal dissection: with fenestrated grasper, via the assistant trocar, traction of the uterus cranially, and with the robotic Cadiere foceps traction of the bladder peritoneum toward the anterior abdominal wall.\nAnterior/lateral robotic vaginal dissection: dissection and dividing of the vagina from the bladder anteriorly and paravaginal tissues laterally, with robotic bipolar forceps and unipolar scissor, down to the level of the vaginal dissection.\nPosterior robotic vaginal dissection: with the robotic Cadiere forceps elevation of the uterus against the pubis; opening of the posterior peritoneum with unipolar scissor and sealing/cutting of the sacro-uterine ligaments; dissecting the rectovaginal septum with releasing the total vagina from the rectum down to the level of the initial vaginal dissection; removal of the total vagina and uterus vaginally.\nClosure of the vaginal introitus: approximation of the bulbocavernosus muscle on both sides toward the midline with Vicryl 1 sutures, below the level of the urethral orifice. Closure of the skin above the bulbocavernosus muscle with Ethilon 2/0 Donati stitches.\nThe 10 surgical steps of the combined vaginal and robotic en bloc total vaginectomy and hysterectomy were as follows, with the patient placed in the lithotomy position (Figure 1): The methylene blue test showed a small bladder lesion at the top of the bladder, which was closed with two single sutures Monocryl 3/0. The estimated blood loss was approximately 300 cc. The rectal serosa was intact. The total combined vaginal and robotic operation time was 195 min. Postoperative recovery was uneventful. Hemoglobin levels did not drop below 9.8 g/dL. C-reactive protein levels remained low postoperatively (maximum of 13 mg/L). The patient was discharged on day 5. The bladder catheter was removed during an outpatient visit on day 10. She had no complaints. The pathology report showed a residual malignant melanoma of 6.23 mm in width with an invasion thickness of 0.8 mm; the combined dimensions of the residual melanoma and the initial excision biopsy (20 x 8mm, with ulceration) provide a final TNM stage as pT4bN0 (AJCC Stage IB) or FIGO stage I. There was no ulceration in the residual melanoma, perineural and lympho-vascular invasion were absent, and there was no invasion in the cervix. The surgical margins were free. All bilateral sentinel lymph nodes showed negative results. Immunohistochemical staining showed that the tumor cells were positive for Sox10, PRAME, and MIB1. P53 showed a wild-type expression. PHH3 did not show a clear mitosis. ATRX showed a weak but preserved expression in tumor cells. No BRAF mutation was found; however, a mutation was found in the KIT gene (exon 11). The suggested multidisciplinary advice was adjuvant treatment with immunotherapy and an intravenous administration of Pembrolizumab (PD-1 receptor blocker) for 1 year. During follow-up, there was no evidence of recurrent disease clinically or on imaging 4 months after surgery.",
"gender": "Female"
}
] |
PMC10250735
|
[
{
"age": 24,
"case_id": "PMC3426826_01",
"case_text": "A 24-year old patient with secondary osteoarthritis of the hips due to Legg-Calve-Perthes disease underwent primary hybrid THA of the left hip seven years before trauma, followed by primary cementless THA of the right hip one year later at our institution (Fig. 1) Six years after the right THA, he was involved in a motorcycle accident, in which he suffered direct trauma to this hip, as well as a complex ankle fracture which was treated in a smaller regional hospital on admission. Although initial anteroposterior radiographs of the pelvis and right hip axial views were performed, no signs of fractures, aseptic loosening or implant damage were diagnosed by the attending trauma surgeons (Fig. 2). Two weeks after surgical treatment of the ankle fracture, the patient noticed a sudden \"cracking\" sound in his right hip, as well as shortening of the right lower limb. Interestingly, the patient had no relevant pain.\nDespite this sign, he had no further medical observation or secondary radiographic evaluation over the next month. In the following months he was increasingly troubled by back pain and an unpleasant cracking \"phenomenon\" with movement of his right hip; no severe hip pain or associated direct thigh pain was mentioned at any time. Further conventional radiographs, in two planes, more than a year after the initial radiographs, revealed a completely destroyed multifragmented ceramic head (Fig. 3). A thorough clinical examination revealed a shortening of 2 cm of the right lower limb, yet the patient was able to walk without relevant pain.\nIntraoperatively, extensive damage of the ceramic head and correlating taper junction of the femoral neck was found (Figs. 4, 6, 7). Concomitantly, there was severe debris-related metallosis throughout the entire joint (Fig. 5). The intervention consisted of conversion of the short cementless CFP stem to a cementless revision stem and an acetabular cup revision to a ceramic-ceramic bearing surface (Alloclassic stem and Allofit-IT acetabulum with Delta Ceramic Inlay, Zimmer, Warsaw, Indiana, USA and Ceramtec, Plochingen, Germany). Meticulous debridement of all affected soft tissues and extensive lavage was additionally performed.\nThe postoperative course was uneventful, with radiographs revealing a correct position and articulation of the cementless implant (Fig. 8). A 12 month postoperative inquiry was performed and the Oxford Hip Score obtained, with both indicating satisfactory joint function. The patient had no pain and was able to perform his daily activities.",
"gender": "Male"
}
] |
PMC3426826
|
[
{
"age": 13,
"case_id": "PMC4159397_01",
"case_text": "A 13-year-old Caucasian male previously diagnosed at 7 years of age with choroideremia presented with subacute loss of central acuity in his left eye. The patient has been followed routinely with the Ophthalmic Genetics Service at Casey Eye Institute and has maintained 20/20 visual acuity bilaterally, until now. The visual acuity was 20/20 and 20/100 in his right and left eye, respectively. An afferent pupillary defect was absent. Tonometry and anterior segment examination were within normal limits. Dilated fundus examination revealed diffuse peripheral chorioretinal atrophy in both eyes with sparing of the central fovea on the right side. In the left macula, there was a subfoveal elevated gray-white membrane with an adjacent punctate area of subretinal hemorrhage (Figure 1). Spectral domain optical coherence tomography (SD-OCT) (Figure 2) and fluorescein angiography (FA) (Figure 3) revealed a subretinal membrane with late staining and mild leakage. The findings were consistent with a subretinal neovascular membrane with mild activity. Outside the central macula, the choriocapillaris and RPE were diffusely absent in both eyes. Given his significant decrease in visual acuity and associated neovascular lesion, treatment with anti-vascular endothelial growth factor (VEGF) therapy was recommended. A total of ten intravitreal injections of 1.25 mg bevacizumab (Avastin ; Genentech, San Francisco, CA, USA) were administered over a 12 month period. Visual acuity at last follow-up was 20/150. Clinical exam appeared stable and SD-OCT revealed mild anatomical improvement (Figure 2). The images are unchanged.",
"gender": "Male"
}
] |
PMC4159397
|
[
{
"age": 17,
"case_id": "PMC3173925_01",
"case_text": "A 17-year-old adolescent male patient presented to Ear, Nose and Throat Out-Patient Department (ENT OPD) with complaints of right eye proptosis and loss of vision for last 20 days [Figure 1]. There was no history of nasal obstruction or epistaxis. Patient also complained of bilateral non-tender neck swelling for last 7 days. On examination, nose was normal on anterior rhinoscopy, but perception of light in right eye was absent. The right globe was fixed in all directions and relative afferent papillary defect (RAPD) was also present. Left eye vision was normal. Coronal [Figure 2] and axial [Figure 3] cuts of contrast enhanced computerized tomography (CECT) scan of nose, paranasal sinus and orbit showed heterogeneously enhancing soft tissue density involving right nasal cavity, anterior and posterior ethmoids with erosion of cribriform plate and with right intraorbital extension. MRI of brain and orbit was done which showed Kadish stage C extension. Both T1 and T2 showed heterogenous signal intensity with dural enhancement along with involvement of right orbital apex and intraconal part of right eye. Patient underwent a nasal biopsy which was sent for histopathological examination (HPE). HPE report revealed small, round cell tumor forming Holmer-Wright rosettes suggestive of olfactory neuroblastoma. Fine needle aspiration cytology (FNAC) was also done from bilateral cervical level II lymph nodes which showed them as metastatic. In view of bilateral lymph nodes, radiotherapy consultation was sought and patient was put on external radiotherapy. The tumor responded very well to radiotherapy and both the metastatic lymph nodes and proptosis of right eye subsided within one month of starting radiotherapy. The patient received 66 gray radiation (Gy) in 33 fractions of 2 Gy a day for 5 fractions per week. Total treatment lasted for 7 weeks. At 1 month follow-up post radiotherapy, patient is clinically normal without palpable cervical lymph nodes and his proptosis has also decreased. He is on regular follow-up and according to the patient, his appetite and his weight has also improved after treatment.",
"gender": "Male"
}
] |
PMC3173925
|
[
{
"age": 13,
"case_id": "PMC3606735_01",
"case_text": "A 13-year-old previously healthy Iraqi-born unvaccinated immigrant boy presented with a one-year history of worsening vision loss. Over the course of 2 months, he developed myoclonic jerks involving all extremities that increased in frequency over the next few months, occurring every 10 seconds. In addition, he had atonic episodes resulting in him falling to the floor. He had difficulty with fine motor movements, including writing and putting on clothes. Over several months, he progressed to being unable to ambulate independently. He had frequent urinary incontinence. His memory and performance in school began to decline, first gradually and then more rapidly after 6 months. He started to have aggressive outbursts towards his family with behaviors such as hitting and biting. His mother reported a febrile illness associated with a rash as a toddler without confirmation of measles.\nInitial exam demonstrated decreased visual acuity in the right eye (20/200) and left eye (20/40) and frequent myoclonic jerks. He had evidence of macular retinopathy on fundoscopic evaluation. On mental status examination, he showed progressive impairment with simple multiplication and difficulty with recall and comprehension. He had difficulty with orientation questions. On cranial nerve examination, he had sluggish poorly reactive pupils to direct light bilaterally with normal reactivity on convergence and an oculomotor apraxia. He had diffuse spasticity of both upper and lower extremities with diffuse hyperreflexia. Coordination exam revealed a progressive resting and action tremor bilaterally and an unsteady, wide-based gait.\nEEG showed significant frontal slowing during the awake state as well as recurrent periodic generalized periodic epileptiform discharges with preservation of his posterior basic rhythm (Figure 1) that raised suspicion for a diagnosis of a progressive myoclonic epilepsy included in the differential diagnosis: baltic myoclonic epilepsy, Lafora body disease, Unverricht-Lundborg disease, neuronal ceroid lipofuscinosis, sialidosis, myoclonic epilepsy with ragged red fibers, and SSPE.\nFollowing an extensive negative metabolic and infectious workup of serum and CSF samples, the diagnosis of subacute sclerosing panencephalitis was confirmed by elevated serum measles IgG (22.4) and CSF measles IgG (12.0) titers.",
"gender": "Male"
}
] |
PMC3606735
|
[
{
"age": 59,
"case_id": "PMC4311031_01",
"case_text": "A 59-year-old Korean man had a medical examination for healthy check-up in December of 2012. An abnormal mass-like lesion in the right hilum was incidentally detected on chest X-ray without any symptom. He was referred to our center for further evaluation.\nThe patient has hypertension, diabetes mellitus and a history of angina. He visited the division of cardiology of our hospital in March of 2010, and was diagnosed with angina and hypertension. A cardiac angio computed tomography (CT) scan performed at that time detected a 2.5-cm diameter, minimally enhanced mass in the right hilar area (Figure 1A). Since then, he failed to return and was lost to follow up. The patient had a 40 pack-year cigarette smoking history and a family history of stomach cancer. On this admission, the physical examination was unremarkable. The blood examination showed eosinophilia (eosinophil 18.5%, 1,750/microL) and the rest of the laboratory tests including serum tumor markers (carcinoembryonic antigen, cancer antigen 19-9, alpha-fetoprotein, and prostate specific antigen), viral markers (hepatitis virus and human immunodeficiency virus), and autoimmune antibody titers were all within normal range. Examination for parasites was also negative.\nA chest CT scan showed a 2.5-cm diameter mass in the right hilum that changed little in terms of size since 2010 (Figure 1B). A primary lesion was not found in the lung parenchyma. The torso fluorodeoxyglucose (FDG) positron emission tomography identified an abnormal FDG uptake in this right hilar mass, but no other pathologic hypermetabolic lesion was seen that may indicate a primary site. Bronchoscopy revealed mild bronchial wall thickening at the right upper lobe and right middle lobe opening but no endobronchial lesion was present. A biopsy of the bronchial wall thickening was done and histologic examination showed chronic nonspecific inflammation with squamous metaplasia. No abnormal finding was seen on the cytologic exam in the bronchial washing specimen. Endobronchial ultrasound guided transbronchial needle aspiration from the right hilar mass was performed. Atypical cells, favor malignancy, was seen in the aspiration cytology. Endoscopy for gastrointestinal tract and head and neck examination also failed to disclose a primary site of cancer.\nRight pneumonectomy and mediastinal lymph node dissection were done. Grossly, several enlarged lymph nodes were found in the hilar and interlobar areas (Figure 2). On serial gross section of the lung, there was no abnormal lesion at bronchial tree and lung parenchyma except multiple lymph nodes enlargement. Entire bronchus and peribronchial tissue were embedded and evaluated. Microscopically, metastatic squamous cell carcinoma was found at several lymph nodes (8/45) and there was no tumor in the lung parenchyma and bronchial tree (Figure 3). Although the tumor was very close to the main bronchus, there was no evidence of bronchial invasion microscopically by tumor. The patient was diagnosed with T0N1M0 lung cancer and has received four cycles of adjuvant chemotherapy with cisplatin and vinorelbine. He has been observed at outpatient clinic after treatment without any evidence of recurrence so far.",
"gender": "Male"
}
] |
PMC4311031
|
[
{
"age": 36,
"case_id": "PMC6883338_01",
"case_text": "We present a 36-year-old man, smoker with no known chronic medical illnesses, who had a history of idiopathic priapism for which he underwent a distal (Al-Ghorab) shunt surgery 3 years ago. Consequently, the patient presented to our clinic complaining of ED. As a result, he was started on Tadalafil and Alprostadil intracorporeal injections for 3 years but without satisfying erections. Thus, the choice of inserting a 3-piece penile prosthesis was discussed with the patient and he agreed. In June 2018, the patient underwent penile prosthesis insertion (Coloplast Titan ). Intraoperatively, severe corporal fibrosis was noted and dilated successfully. The procedure went uneventfully without complications. The patient was admitted for pain control and a 4-day course of intravenous Vancomycin and Gentamycin. During the hospital stay, no scrotal swelling or tenderness were noted, and the patient was discharged on Ciprofloxacin plus Cephalexin for 14 days. A month later, the patient presented with a painless scrotal swelling. However, no signs of systematic infection were detected. Local examination revealed an intact surgical scar with no overlying skin changes or discharge. Additionally, a small left scrotal confined collection was felt. Scrotal ultrasonography revealed 5.6 x 3.3 x 3.9 cm scrotal hematoma surrounding the prosthesis pump (Fig. 1). As there were no signs of infection and the device was functioning properly, the patient was managed conservatively with scrotal support and he was instructed not to use the device until the resolution of the hematoma. On the following visit, hematoma decreased in size, prosthesis recycling was performed successfully, and the patient was allowed to resume sexual intercourse. Two months later, the patient presented with a painless large scrotal swelling with the inability to use the pump due to the surrounding collection. On examination, there were no signs of local or systemic infection. A large, painless and firm scrotal swelling at the site of the pump was palpated. A pelvic MRI showed a 6.4 x 3.6 x 3.9 cm scrotal collection with findings suggestive of an underlying infectious process (Fig. 2, Fig. 3). The choice of elective scrotal exploration with a possible exchange of the implant was discussed with the patient, and he agreed after all risks and benefits were explained.\nUnder general anesthesia, a penoscrotal incision was made. The pump was covered by a fibrous layer which was incised sharply. Upon opening the capsule surrounding the pump, blood poured out and a sample was taken for culture (Fig. 4). Complete hematoma evacuation and excision of the cavity was done, and the device was recycled successfully multiple times with no evidence of malfunction (Fig. 5). Accordingly, the decision was made not to replace the device. Vigorous scrotal washout was done using 1-liter of antimicrobial solution (Vancomycin and Gentamycin), povidone and hydrogen peroxide. Then, a new space was created for the pump in the right scrotal side. Eventually, size 10 French Jackson-Pratt drain was inserted, and the scrotal layers were closed using vicryl suture.\nThe intraoperative culture came back positive for Staphylococcus Lugdunensis, so the patient was shifted from intravenous Vancomycin and Gentamycin to oral Clindamycin 600 mg three times a day for 3 weeks. The patient was discharged on day 7 postoperatively in a good condition. The patient is being followed up postoperatively for 2 months now with no evidence of hematoma recurrence or prosthesis malfunction.",
"gender": "Male"
}
] |
PMC6883338
|
[
{
"age": 10,
"case_id": "PMC10308279_01",
"case_text": "A previously-healthy 10-year-old white-British girl of non-consanguineous parentage was referred to our tertiary pediatric rheumatology service with a 6-month history of worsening skin rash that was suspected to be vasculitic in nature by the local paediatrician. An initial 4 x 2 cm lesion on the right lower leg had gradually increased in size, followed by scattered 1 cm lesions developing across the left leg and buttocks (Figures 1A,B). The macular lesions were asymmetrical with irregular borders and a violaceous color (purpura- like), and there was associated atrophy and subtle telangiectasia with visible vessels. The surrounding skin also had a mottled appearance with mild livedo reticularis-like appearance but was warm to touch with normal capillary refill time. On assessment at our centre, she was systemically well, thriving, with no evidence of systemic vasculitis, specifically: no evidence of granulomatous inflammation in the nasal mucosa; normal blood pressure (93/65) with normal peripheral pulses and no thrills or bruits; normal respiratory and abdominal examination; normal musculoskeletal examination; no evidence of inflammatory eye disease clinically and normal fundi. Dip test of the urine revealed absence of blood or protein.\nIn the year prior to referral, only limited blood tests were available, revealing no evidence of an inflammatory process with C-reactive protein (CRP) <1 mg/L (reference range 0-20 mg/L) and erythrocyte sedimentation rate (ESR) 2 mm/h (reference range 0-10 mm/h); normal complement C3 and C4 levels; and negative lupus anticoagulant and rheumatoid factor. Her full blood count, renal function, liver function, creatine kinase and lactate dehydrogenase were all within normal limits, as was her urine protein:creatine ratio. There were, however, no recent blood tests available due to severe needle phobia. This significantly affected our ability to assess the patient fully to exclude vasculitis as the cause of the unusual skin rash and for any serological evidence of an ongoing inflammatory or autoimmune process driving vasculitis. However, our clinical assessment was that these findings could also be part of an inherited vasculopathy. Based on that, the pre-test probability of systemic vasculitis was low, and gave us confidence that we had time to work with the child and family to initially avoid invasive investigations in the context of her extreme procedural anxiety.\nOn further scrutiny of the past medical history, we noted an antenatal history of mitral regurgitation (which had resolved by 30 weeks' gestation). This had prompted an echocardiogram three months prior to her first clinic appointment, which unexpectedly showed aortic root dilatation, with aortic annulus 18.8 mm (z-score +0.44), sinus of Valsalva 32.2 mm (z-score +3.99), ST junction of 22.9 mm (z-score +2.45) and proximal ascending aorta 23 mm (z-score 2.14). The patient had also previously been investigated for mild hypermobility but had a normal skeletal survey, with no evidence of skeletal dysplasia or other skeletal abnormality, and she had normal arm span/height ratio, with height on the 70th percentile and weight on the 40th percentile.\nSpecific clinical screening for MFS revealed a systemic score of 0/20, while the median systemic score in patients with MFS is 7/20. However, in recognition of the limitations of the systemic score, especially in childhood, the revised Ghent-2 criteria from 2010 place more emphasis on the cardinal features of ectopia lentis and aortic root dilatation, alongside molecular genetic testing. It is also of note that while skin striae are the only cutaneous manifestation listed in the revised Ghent-2 systemic criteria, other unusual skin rashes like those seen in our case have been reported. A skin biopsy or further investigation under general anesthesia was offered but not performed due to the patient's severe procedural anxiety.\nWith the severe needle-phobia hampering our ability to repeat any blood tests or biopsy the skin lesions, we focused on DNA analysis via a salivary sample using a targeted gene panel of 214 genes, designed to screen for monogenic forms of vasculitis, and genetic vasculopathies that are known to mimic vasculitis of the young, as described previously by our group. The full list of genes in this panel are provided as Supplementary Material (Supplementary Table S1). This targeted gene panel revealed a frameshift variant in the fibrillin 1 gene: FBN1, NM_000138, c.1211delC, p.P404Hfs*44 het. Sanger sequencing results of parental samples were consistent with the variant having arisen de novo in the proband (Figure 1D). This variant is not listed in the Genome Aggregation Database (gnomAD), there are two entries in ClinVar where submitting laboratories have classified this variant as either pathogenic or likely pathogenic, and the same frameshift caused by a different nucleotide deletion has been previously described in MFS. The variant is expected to result in either an abnormal truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. This allowed us to conclude that this genotype is pathogenic (Class 5) despite lack of experimental functional data directly probing the molecular mechanism of pathogenicity. Loss-of-function variants are a known mechanism in MFS and haploinsufficiency has been associated with a more severe aortic phenotype, although both haploinsufficiency and dominant negative effects have been implicated in pathogenesis of MFS.\nThe patient was first seen in our clinic in June 2019 and received the genetic diagnosis in December 2019. During close clinical follow-up until May 2023, no features of systemic vasculitis emerged. In January 2020, due to aortic root dilatation in context of MFS with aortic annulus 19.9 mm (z-score +1.84) and sinus of Valsalva 32.2 mm (z-score +3.75), ST junction 21.83 mm (z-score +1.79) and ascending aorta 22.4 mm (z-score +1.59), she was commenced on treatment with losartan and atenolol at standard doses; the mother reported that this was associated with complete resolution of the cutaneous lesions within three weeks. The patient remained clinically well until February 2022, when she developed recurrent spontaneous pneumothoraces. These were managed with bilateral bullectomy and pleurodesis and to date (May 2023), no other features of MFS have emerged.",
"gender": "Female"
}
] |
PMC10308279
|
[
{
"age": 83,
"case_id": "PMC9149410_01",
"case_text": "Case 1 An 83-year-old man with dilated cardiomyopathy and a complete left bundle branch block underwent implantation of a cardiac resynchronization therapy defibrillator (CRTD, Quadra Assura MPTM 3371-40, St. Jude Medical, USA) in May 2019. In September 2021, he was diagnosed with Dukes D stage rectal cancer and accepted expectant treatment. Beginning in October 2021, he suffered from recurrent paroxysms of palpitation, accompanied by occasional shocks. In November 2021, he was admitted to a small hospital due to syncope. At arrival to the hospital, the patient was hemodynamically stable (arterial blood pressure of 100/47 mmHg). A physical examination and an electrocardiogram (baseline rhythm: sinus rhythm/DDD pacing mode, 74 beats/min) did not provide evidence of acute decompensation of heart failure or acute coronary syndrome. Laboratory examinations found the level of hemoglobin was decreased (110 g/L) and the brain natriuretic peptide level was slightly increased (1,786.58 pg/ml). Electrolyte abnormalities and hyperthyroidism were excluded. Because of the lack of qualification to reprogram a CRTD, the local medical staff contacted the device specialist from the author's hospital for emergent technical assistance.\nRemote device interrogation demonstrated a total of 64 episodes of ventricular fibrillation (VF), 31 episodes of non-persistent events, and 1 episode of supraventricular tachycardia. The maximum frequency of VF episodes was 45 times within 26 h. Antitachycardia pacing (ATP) terminated 54 of the 64 episodes of VF. Ten episodes of VF were unaffected by ATP and required a shock for termination. The shocks were ineffective in 2 episodes of VF, with successful termination by a subsequent shock.\nThe device was remotely reprogrammed as follows without the loss of connectivity or programmability: VF shock energy output 2, 30 J to 36 J; value of the VF R-R interval, 12 to 18; VT-2, therapy 2 shock energy output, 15 J to 30 J; VT-2, therapy 3 shock energy output, 30 J to 36 J; left ventricular pulse width 2, 2.5 V to 1.75 V.",
"gender": "Male"
},
{
"age": 77,
"case_id": "PMC9149410_02",
"case_text": "Case 2 A 77-year-old woman with sick sinus syndrome and paroxysmal atrial fibrillation underwent implantation of a single chamber pacemaker (AccentTM SR RF 1,210, St. Jude Medical, USA) in VVIR pacing in July 2019. In December 2021, she presented to the emergency department due to palpitations and general debility. At hospital arrival, the patient was hemodynamically stable (arterial blood pressure 146/84 of mmHg). An electrocardiogram examination detected atrial fibrillation with rapid ventricular rates (130 beats/min). The emergency room physician applied for emergent device evaluation. To minimize personnel exposure to COVID-19 infection, we remotely interrogated and tested the device from the cloud follow up center. The result of remote interrogation found the device was in VVIR pacing mode and the maximum sensor-based rate was 130 beats/min. The ventricular lead parameters were in normal ranges. Before receiving further medication treatment, the atrial fibrillation was autoterminated.",
"gender": "Female"
},
{
"age": 69,
"case_id": "PMC9149410_03",
"case_text": "Case 3 A 69-year-old woman with sick sinus syndrome underwent implantation of a dual-chamber pacemaker (AccentTM DR 2112, St. Jude Medical, USA) in DDD pacing in 2019. In November 2021, she presented to the author's follow-up clinic due to pacemaker syndrome. Device evaluation results showed that her device was in backup VVI mode: the base rate was 67 beats/min, and the ventricular pulse amplitude was 5.0 V. To address this emergent situation, we contacted the manufacturer's representative in Abbott China (Shanghai) for technical support. After obtaining written informed consent from the patient, we began the realtime remote programming session by contacting the remote manufacturer's representative via video call. Once getting the specific password from St. Jude Medical (Sweden), the remote manufacturer's representative successfully reset the device and reprogrammed it to DDD pacing of 60 bpm. We checked with patient's activities, there was no evidence of exposure to strong electro-magnetic field. Since the device have restored successfully, we monitored the patient. At follow-up after realtime reprogramming, the palpitation was completely remitted, and there were no signs of recurrence.",
"gender": "Female"
}
] |
PMC9149410
|
[
{
"age": 62,
"case_id": "PMC8326104_01",
"case_text": "A 62-year-old female who had undergone prior subtotal resection of a schwannoma of the cauda equina (5 years ago) newly presented with a 3-month history of low-back pain/dysesthesias radiating into her right lower extremity, anesthesia in her perineal region, and urinary retention. Her lower extremity examination revealed a partial paresis (4/5), hyporeflexia, and hypoesthesia of the lower limbs and perineal region.\nA gadolinium-enhanced MR imaging (MRI) documented an intradural extramedullary solid lesion with marked gadolinium enhancement extending from L1 to L2, resulting in anterior compression/displacement of the cauda equina/ conus medullaris [Figure 1]. Due to the prior history, this was determined to likely be a recurrent schwannoma of the cauda equina.\nShe underwent bilateral laminectomies of L1-L2; following the durotomy, a well-defined (14 x 20 x 22 mm) solid yellowish lesion was visualized adjacent to the filum terminale; it was completely resected. Neuromonitoring potentials and electromyography remained unchanged. Next, a T11-L3 transpedicular screw-rod system was used to prevent mechanical instability in the thoracolumbar junction because of the multiple laminectomies performed at this level.\nShe was discharged three days postoperatively, having regained full neurological function except for residual hypoesthesia in the perineal region. In addition, the postoperative MRI scans confirmed complete tumor removal [Figure 2].\nPathology revealed a fusocellular tumor that was compatible with the diagnosis of a schwannoma of the cauda equina [Figure 3]. It had a Ki67 <1%, positivity for S100 protein and smooth muscle actin, and negativity for desmin, DC34, and CD117.",
"gender": "Female"
}
] |
PMC8326104
|
[
{
"age": 24,
"case_id": "PMC4232202_01",
"case_text": "We report an unusual case of Behcet disease presenting with retinal vasculitis and unilateral exudative retinal detachment. A 24 years old man presented with 1 week history of acute vision loss of both eyes. He reported a 3 years history of recurrent oral and genital ulcerations, with arthralgia of wrists and ankles. The best correct visual acuity was 6/30 in the right eye and 6/24 in the left eye. Slit lamp examination showed bilateral mild inflammation in the anterior chamber and vitreous. Funduscopy revealed bilateral extensive perivascular sheathing with scattered yellowish retinal infiltrates and hemorrhages. In the right eye there was, in addition, a bullous exudative retinal detachment involving the superior and inferior quadrants of the temporal retina (a, white arrows). Fluoresce in angiography (b) showed late staining of the retinal vasculature with diffuse dye leakage in both eyes. In the right eye, late frames showed an evident fluorescein pooling in the subretinal space (black arrows). The patient received intravenous bolus of methylprednisolone (1 g daily / 3days) leading to prompt clinical improvement. Azathioprine was also started at a dose of 150 mg daily. Exudative retinal detachment is an uncommon finding in Behcet's disease, and only few cases were reported in the medical literature. This entity could reflect the severity of the underlying disease. In addition the early set of the disease and male gender are usually associated with poor long term prognosis. This justifies our choice of giving azathioprine as an immunosuppressive therapy.",
"gender": "Male"
}
] |
PMC4232202
|
[
{
"age": 28,
"case_id": "PMC4367056_01",
"case_text": "A 28-year-old male patient reported [Figure 1] with the chief complaint of a painless swelling in the right upper back tooth region since 3 years. History revealed swelling was of insidious in onset, which increased to attain the present size. Family history revealed the patient's father [Figure 3] also had multiple swellings all over the body and face. On general examination, multiple swellings all over the trunk region and arms were observed [Figure 2]. Solitary well-defined oval shaped swelling [firm in consistency and nontender on palpation Figure 4] approximately 4 cm x 3 cm was present in the right maxillary posterior region extending from distal aspect of maxillary first premolar to mesial aspect of third molar. Radiographic screening was normal. However, multiple, discrete, sessile cutaneous masses which had started appearing since childhood were observed. Histopathological examination of incisional biopsy of the oral lesion showed spindle cells with elongated wavy nuclei. The lesional area was separated from the overlying epithelium by mature fibrous connective tissue [Figure 5].",
"gender": "Male"
}
] |
PMC4367056
|
[
{
"age": 45,
"case_id": "PMC5180436_01",
"case_text": "A 45-year-old Caucasian male patient presented at our emergency department with headache, visual deficiencies, and moderate disorientation. On the day of the admission, he experienced a convulsive seizure. His medical history was free of any severe infections, immunomodulatory diseases, severe traumas, malignancies, and recent surgical interventions. In the past years, he had not visited any tropical or subtropical areas.\nLaboratory parameters on admission were not deranged and physical examination showed normothermia without meningeal irritation. In addition to the visual deficiencies and the mild mnestic impairment, no neurological deficits could be identified.\nImmediate computed tomography (CT) scan showed a hypodense lesion in the right parietal region. On contrast-enhanced magnetic resonance imaging (MRI), a ring-shaped lesion in the right parietal lobe was noted [Figure 1a-c]. The diffusion-weighted images showed an intensive hyperintense signal, which was strongly suspicious for a brain abscess [Figure 1d].\nCalculated antibiotic treatment was initiated with amoxicillin/clavulanic acid and metronidazole. The patient was prepared for surgical intervention. The patient was informed regarding the off-label use of FL, and he provided written consent.\nApproximately 30-45 minutes prior to skin incision, 5 mg/kg bodyweight of FL (Natrium Fluoreszein 10%, ALCON, Germany) was administered via the central venous line during induction of anesthesia.\nCraniotomy was planned with neuronavigation. After durotomy, the PENTERO 900 surgical microscope was applied. The lesion could not be detected under white light, however, showed intensive fluorescent staining under the YE560 nm filter [Figure 2a and b]. After opening of the capsule, viscous pus poured out [Figure 3a] that was not fluorescing under filtered light [Figure 3b]. The pus and the capsule were microsurgically removed and sent to the neuropathology and microbiology department.\nThe postoperative course was uneventful. Because no microbiological specimen could be identified, calculated antibiotic treatment was continued. The visual deficiencies and the mnestic impairment completely resolved, and the patient was discharged after 5 weeks.",
"gender": "Male"
}
] |
PMC5180436
|
[
{
"age": 56,
"case_id": "PMC10157198_01",
"case_text": "A 56-year-old male with an unremarkable medical history presented with an acute onset of headache. The patient was of Chinese Han nationality and had no history of drug abuse or surgical treatment of craniocerebral diseases. The computed tomography (CT) obtained at the local hospital showed a grade 1 subarachnoid hemorrhage (SAH) on the modified Fisher scale (Figure 1A). After 6 days of conservative treatment, the patient was admitted to our hospital. CT was repeated and showed that the SAH had been absorbed (Figure 1B). CT angiography showed the arterial network of the right proximal MCA and an aneurysm on the A1 segment of the ACA (Figures 1C, D). The patient could correctly obey commands during the physical examination, and his condition was classified as grade I on the Hunt-Hess scale. The limb muscle strength was grade V, and the Babinski sign was positive in both lower limbs.\nThen, endovascular coil embolization for the aneurysm was planned. During the treatment, digital subtraction angiography (DSA) confirmed that the right MCA was twig-like, an aneurysm with a diameter of 4 mm was located at the origin of the AccMCA from the A1 segment of the ACA, and the AccMCA was a collateral artery for the MCA twig (Figure 2). After the three-dimensional reconstruction of the DSA data, the best projection degree showed the aneurysm sac and its neck. An Echemon-10 microcatheter (Medtronic, Irvine, CA, USA) was used to perform the coiling [Axium Prime coils: 3.5 mm x 10 cm, 2 mm x 6 cm, 1.5 mm x 3 cm (Medtronic, Irvine, CA, USA)], and the aneurysm was completely embolized (Figures 3A, B).\nPostoperatively, the patient recovered uneventfully. One month later, the patient returned to his job without any neurological deficits. A postoperative CT at the 3-month follow-up showed that the brain tissue was normal (Figures 3C, D).",
"gender": "Male"
}
] |
PMC10157198
|
[
{
"age": 42,
"case_id": "PMC9199574_01",
"case_text": "This is a case study of a 42-year-old woman (who will be called Emma). She had secondary education, was divorced, and raised by herself her 10-year-old daughter and 9-year-old son with autism spectrum disorder. She remained unemployed and used care allowance. Emma came from a very religious family and was raised by mother and grandparents. No one used psychiatric treatment in her mother's family and there was no information about that from the father's side. Her father was born in a Nazi concentration camp and after the war he relied on financial compensation. He was much older than Emma's mother, aggressive, and abused alcohol. He left the family before Emma's first birthday, and reappeared every 6 or 12 months thereafter. According to Emma, her mother was controlling and turned her against her father. Emma also perceived herself as a solution for her mother's pain after miscarrying a child shortly before Emma had been conceived.\nEmma had a good relationship with her maternal grandfather, who was supportive and a model of morality and piety. He led her to develop her interest in religion when she was in primary school, but he died when she was 15. Around that time her problems with aggressive or auto-aggressive behavior started, as well as attention seeking by unlawful behavior and breaking school regulations. She became rebellious, and frequently quarreled with her mother who tried to control her social life and sexuality, before running away from home for a year to live in squats, abusing alcohol and drugs, and engaging in risky sexual behavior for money. She was sexually abused under the influence of substance a few times. In adulthood, she lived abroad for almost 10 years, earning money by providing sexual services. During that time she also experienced rape and threats. As she never had close friends, she only used support from priests who, based on her life history, believed she was possessed. She was first exorcized a few times in charismatic groups at age 16. In adulthood, she regularly used deliverance ministries and individual exorcisms according to Roman Catholic ritual for a few years, but her problems and symptoms persisted.\nShe had elevated levels of somatoform and psychoform dissociation (respectively, measured with SDQ-20 and DESR-PL). More information about her symptoms reported during the clinical interview and mental state examination is provided in Table 3.\nRecordings of all the interviews were transcribed verbatim and analyzed together with researchers' notes using qualitative data-analysis software (MaxQDA 2020 ver. 20.4.0). Consecutive IPA procedures were employed in the study. Researchers watched each interview and read the transcripts carefully. They individually made notes about body language, facial expressions, the content and language use, reported symptoms, and wrote down their interpretative comments using the annotation feature in MaxQDA 2020. Next, they categorized their notes into emergent themes by allocating descriptive labels. They then compared and discussed their diagnostic insights, coding and interpretations. They analyzed connections between themes and grouped them according to conceptual similarities into main themes.\nDuring each interview, the participant was encouraged to illustrate reported symptoms or experiences with specific examples. Interviewers asked clarification questions to negotiate the meaning the participant wanted to convey. At the end of the interview, she was also asked questions to check that her responses were thorough. The researchers discussed her case thoroughly, including the diagnosis and interpretative notes to compare their understanding of the content and its meaning (the second hermeneutics).",
"gender": "Female"
}
] |
PMC9199574
|
[
{
"age": 35,
"case_id": "PMC6787949_01",
"case_text": "The patient provided informed consent for inclusion in this case report, and Peking University First Hospital committee approved the study. A 35-year-old female patient of Han ethnicity was admitted to our hospital with a 5-year history of painful intercourse accompanied by oral mucosal lesions and a 3-year history of difficulty with intercourse. The patient began a normal sex life in 2005 and in the same year had a medical abortion. In 2006, the patient experienced partial hair loss over an area ~1 cm in diameter on the head (Figure 1). The patient considered the hair loss to be alopecia areata and did not consult a doctor. In January 2007, a medical abortion at 16 weeks of pregnancy was performed, and the fetus and placenta were successfully delivered; uterine curettage was not performed. The patient recovered her menstrual cycle after one month and resumed normal sexual activity after 2 months.\nIn 2009, the patient started experiencing symptoms of vaginal dryness and deep dyspareunia. In June 2009, the patient experienced gingival pain after eating spicy food and subsequently developed bilateral oral mucosal peeling, but she did not consult a doctor. In 2010, the patient was admitted to another hospital due to aggravation of the symptoms of vaginal dryness during sexual intercourse and the development of pain. A vaginal mucosal ulcer with a diameter of about 8 mm was found. The patient was admitted to Union Medical College Hospital, where tests for anti-nuclear antibody spectrum and lupus antibody were normal, as were the results of other examinations. Behcet's disease was excluded, and she did not receive a formal diagnosis or any treatment.\nIn 2011, the patient developed difficulty having sexual intercourse, and the main manifestation was pain at the vaginal orifice that prevented penetration. The patient had no sex life after 2013. In January 2014, the patient was admitted to the Stomatological Hospital, and physical examination showed that the oral lesions (Figure 2) resembled LP. Other than the oral ulcers and hyperemia, there was no symptoms in other parts of the oral cavity (gingiva or throat). She was treated with oral prednisone (4 mg qd), Tripterygium wilfordii, mouthwash (containing 5 mg/mL dexamethasone sodium phosphate 1 mL twice a day), and thalidomide. The patient reported increased nocturia and vivid dreams during the treatment period, and she refused to continue the therapy. She had a history of trichomonas vaginitis twice in 2013.",
"gender": "Female"
},
{
"age": 34,
"case_id": "PMC6787949_02",
"case_text": "A vaginal microecological examination in August 2014 showed an abnormal flora, and a lactobacillus capsule was administered to the upper vagina once daily for 10 days. The patient was previously healthy (before the onset of symptoms) and denied a history of surgery. The menstrual cycle was 4/25-28 days, and menstrual volume had decreased during the previous year, but there was no dysmenorrhea. The last menstrual period had occurred on September 12, 2014. The patient was gravida 2 (one medical abortion and one induction of labor in the second trimester), para 0. She had an allergy to penicillin. There was no relevant family history of note. The patient's husband was 34 years old and had normal erectile function.\nIn September 2014, the patient was admitted to the Department of Obstetrics and Gynecology, Peking University First Hospital, due to inability to have sexual intercourse. She had a height of 155 cm and a weight of 46.5 kg. Examination of the vulva revealed an extremely thin mucous membrane, hyperemia, a slight lowering of the pubic arch, and a small, bright-red, defect-like lesion on the mucosal surface of the medial labia minora. The vaginal orifice was stenosed with a diameter of 1 cm. There was vaginal stenosis with disappearance of the mucosal folds. The urethral orifice was less than 1 mm in diameter. Ring-like stenosis was present at the 9 o'clock position of the upper two-thirds of the vagina. A small speculum was unable to expose the cervix (Figure 3A). The pH of the vaginal secretions was 5.4. Hormone levels were normal (luteinizing hormone, 4.92 mIU/mL; follicle stimulating hormone, 8.12 mIU/mL; estradiol, 43.0 pg/mL; prolactin, 26.3 ng/mL; and testosterone, 0.48 ng/mL). Tests for autoimmune antibodies (anti-nuclear antibody, anti-double-stranded DNA antibody, and anti-extractable nuclear antigen) were negative, and tests for anti-thyroid antibodies were also normal (anti-thyroperoxidase antibody, 16.06 IU/mL; anti-thyroglobulin antibody, 23.05 IU/mL). Examination of the eyes showed no abnormalities.\nAn oral mucosal biopsy (performed due to the history of oral mucosal ulceration) revealed the following results for the right cheek: squamous epithelial mucosa, squamous epithelial parakeratosis, scattered lymphocytes in the epithelium, lymphoid and plasma cells distributed in a strip-like pattern in the superficial lamina propria, and small vessel hyperplasia (Figure 4A and B).\nA vaginal wall biopsy was performed on November 17, 2014 after preoperative tests. The pathological sections were considered to have squamous epithelial mucosal tissue, partial epithelial atrophy, partial simple hyperplasia, hyperkeratosis and incomplete keratosis, scattered focal infiltration of lymphocytes and plasma cells in the superficial dermis with formation of lymphoid follicles, and small vessel hyperplasia (Figure 5A and B). These results were consistent with an inflammatory lesion.\nIn view of the symptoms of urinary difficulty and the discovery of a pinpoint urethral orifice on examination, urine flow rate was measured at the Urology Department and found to be 5.2 mL/s (normal value: >18 mL/s) (Figure 6A).\nAfter multidisciplinary discussion of the case between the Departments of Dermatology, Obstetrics and Gynecology, and Urology at our hospital, the patient was diagnosed as having LP with multiple system involvement including the scalp, mouth, vagina, and urethra. Since the patient had not tolerated the adverse side effects of corticosteroid therapy during previous treatment and had fertility requirements, she was treated with oral cyclosporine A (125 mg/day) combined with physical dilatation of the urethra, and this resulted in an increase in urine flow rate to 11.5 mL/s (Figure 6B).\nAfter one month of drug therapy (January 8, 2015), the patient resumed her sex life and had sexual intercourse for 10 min without serious dyspareunia. In addition, the oral ulcer had improved, and urination was less problematic than before treatment but more difficult than just after urethral dilatation. Physical examination revealed that the mucosa of the labia minora was smooth, the frenulum labiorum pudendi was lightly chapped and the vaginal elasticity had improved, although the upper vagina still had a ring-like narrowing and no folds (Figure 3B).\nAt the 3-month follow-up, the patient reported only mild pain during sexual activity, but a feeling of dryness persisted. There was no change in urination, and no oral mucosal lesions were present. The patient was treated with cyclosporine A for a total of 6 months, and this resulted in the vulvar lesions essentially disappearing (as assessed by gynecological examination), although the symptoms did not notably improve during the latter 3 months. The patient discontinued the medication due to economic pressures.\nThe patient was followed-up annually with gynecological examinations for a further 4 years. During the 4-year follow-up period, the patient reported that her psychological stress had been relieved and that symptom aggravation had not occurred. In July 2018 (the last outpatient follow-up), the patient reported a satisfactory sex life and a slight decrease in urine flow rate, but no treatment was needed. Oral mucosal lesions had not re-appeared. Gynecological examination showed that the mucosa of the medial labia minora was slightly reddened, smooth, and without defects, the elasticity of the vaginal mucosa was good, and two fingers could be accommodated (see Figure 3C). There was no discomfort during the physical examinations. At present, the patient is not pregnant and continues to be followed-up.",
"gender": "Female"
}
] |
PMC6787949
|
[
{
"age": 16,
"case_id": "PMC5259602_01",
"case_text": "A 16-year-old boy was referred to our hospital for symptoms of hepatosplenomegaly and pancytopenia with suspicion of metabolic diseases like Gaucher disease especially. Past medical history revealed cervical abscess in infantile period, an axillary abscess at the age of 10, and necrotizing pneumonia at the age of 14 years. He was the 6th child of nonconsanguineous parents with 10 live births. One brother deceased because of recurrent pulmonary infections.\nHepatosplenomegaly (spleen 10-12 cm, liver 8 cm below the costal margin), petechia on skin and mucous membranes, and decreased lung sounds were recorded on physical examination. Anemia, thrombocytopenia, neutropenia, hypergammaglobulinemia, and elevated ALP (alkaline phosphatase) (884 U/L) and GGT (gamma-glutamyl transferase) (356 U/L) levels were recorded as abnormal laboratory results. Chronic lung findings as bronchiectasis and atelectasis were observed in chest X-ray (CXR). Portal hypertension via portal Doppler US and biopsy proven perivenular fibrosis and congestion of liver were detected. Investigations revealed no significant results confirming any metabolic diseases including the early suspicion of Gaucher's disease. Pancytopenia was considered to be associated with splenomegaly related to portal hypertension and improved in follow-up. The quantitative oxidative burst activity (\"Phagoburst\" kit, Glycotope, Biotechnology) was abnormal (FMLP 0.94%, PMA 4.10%, and opsonized E. Coli 4.89%; normal values 1-10%, 98-100%, and 97-100%, resp.). He was diagnosed as CGD which was later confirmed with molecular analysis revealing a \"hemizygous X-linked c.1609T>C mutation\" in CYBB gene-gp91phox.\nProphylactic antifungal and antibacterial medications and interferon gamma-1b were started although patient adherence to the treatment and follow-up visits was very poor. He was admitted with the complaints of fever, cough, respiratory distress, and stomachache, two years after the diagnosis. He had bilateral fine crackles with decreased lung sounds in the left basal region, hepatosplenomegaly (spleen 2 cm, liver 3 cm palpable), and a swelling inferior to sternum with dimensions of 4 x 5 cm in abdomen. He had iron deficiency and chronic disease anemia, high acute-phase reactants (C-reactive protein (CRP) 11.2 mg/dL, erythrocyte sedimentation rate (ESR) 90 mm/hour), and minimally elevated ALP (133 U/L) and GGT (36 U/L) levels in laboratory evaluation. CXR revealed an expanded pneumothorax within left hemithorax. There were chronic lung findings relevant to recurrent infections in addition to pneumothorax in thorax CT (Figure 1). Ciprofloxacin, teicoplanin, and fluconazole were started empirically. There was a 7 x 4 cm heterogenous mass lesion in liver with cystic areas in center which was a multiloculated abscess in abdominal US that was subsequently confirmed with abdominal CT (Figure 2). There were multiple lymph nodes in periportal, peripancreatic, and para-aortic regions. Interventional radiology department inserted a drainage catheter to the abscess and a pigtail catheter to the left hemithorax. Staphylococcus aureus (methicillin sensitive) grew in the culture from abscess material. Antibiotics were replaced with cephazolin and rifampicin and a transient response was achieved. However, control CT 5 days after catheter placement showed no significant change in the dimensions of abscess (Figure 2). Surgical treatment was considered due to the multiloculated nature of the abscess and ongoing fever. Irregular abscess wall on anterior liver surface was dissected, and granulomatous changes in peripheral tissues were noted during the operation. Intraoperative US showed multiple small granulomas in liver. Fever did not recur followed by decreases in CRP to 1.4 mg/dL and in ESR to 22 mm/hr, after the operation. Pathologic findings were consistent with necrotizing granuloma and abscess in liver. He was discharged with supportive treatment and appropriate antibiotics two weeks after the operation. Hematopoietic stem cell transplantation (HSCT) was planned as the disease progressed despite the supportive measures. He had a full match donor but the family did not accept HSCT as a treatment option.",
"gender": "Male"
},
{
"age": 0,
"case_id": "PMC5259602_02",
"case_text": "A 3-month-old girl was referred to our hospital with a suspicion of Langerhans cell histiocytosis. She was hospitalized for pneumonia at the fifteenth day of birth followed by recurrent and treatment resistant cervical lymphadenopathies with high CRP levels. She was the first child of a consanguineous family. She had bilateral cervical lymphadenopathies and maculopapular skin eruptions over body and legs on admission. Laboratory investigations revealed anemia, leukocytosis, high CRP level (12 mg/dL), and hypergammaglobulinemia. Histological findings of the skin biopsy and lymph node excision were reported as granulomatous inflammation and necrotizing granulomatous lymphadenitis, respectively. Meanwhile, oxidative burst activity (\"Phagoburst\" kit, Glycotope, Biotechnology) was insufficient (FMLP 9%, PMA 9%, and opsonized E. Coli 4%; normal values 1-10%, 98-100%, and 97-100%, resp.) leading to a probable diagnosis of CGD later confirmed with mutation analysis disclosing a \"homozygous autosomal recessive c.369 + 1G>A mutation\" in CYBA gene- p22phox.\nShe was admitted again with tachypnea with coarse lung sounds relevant to acute pneumonia at 30 months of age. She had anemia (Hb: 8.9 g/dL), leukocytosis (16800/mm3), and high CRP (3 mg/dL) and ESR (60 mm/hr) levels. CXR showed bilateral extensive infiltrations especially prominent in left upper lobe (Figure 3). Thorax CT revealed pneumonic consolidations with calcifications (Figure 3). These findings were interpreted in favor of tuberculosis (TB) although objective mycobacterial evidence was absent (PPD 9 mm, gastric fluid acid-fast bacilli and PCR negative). Three-drug combination therapy (isoniazid, rifampicin, and pyrazinamide) was initiated. Echocardiography showed pericardial thickening which was also evaluated as TB sequela.\nDespite treatment, her clinical condition worsened in a two-month period. Extensive lymph node enlargements in mediastinum and around pericardium reaching to 3 cm in diameter, some showing central necrosis, were recorded in the new thorax CT (Figure 3). During hospitalization, she developed right congestive heart failure signs, fine crackles in lungs, and increased oxygen need. Echocardiography showed findings compatible with pulmonary hypertension, diastolic dysfunction, and constrictive pericarditis (Figure 4). Emergency pericardiectomy was performed. Aspergillus fumigatus was cultured in pericardial fluid and blood Aspergillus antigen was positive for the first time. Parenteral caspofungin and voriconazole infusions were initiated in combination for antifungal therapy. Histological interpretation of the pericardial sample was reported as granulomatous pericarditis.\nFever and respiratory distress continued and thorax CT revealed an abscess of 4.5 x 1.7 cm diameter in left lung inferior lobe, two weeks after the pericardiectomy (Figure 5). The abscess was drained and drainage material culture was positive for Aspergillus fumigatus (Figure 5). Granulocyte transfusions were applied for the subsequent days and fever subsided gradually in a few days. She was discharged with oral voriconazole after her condition stabilized with parenteral antifungal therapy for one month. Blood Aspergillus antigen was still positive in low titers.\nTwo weeks later, she was brought to emergency department with left hemiparesis, left central facial paralysis, and fever. Glasgow Coma Scale was 12, motor strength was 2/5 in left upper and lower extremities, and left plantar response was abnormal in neurological examination. A hypodense lesion at the level of right basal ganglia was interpreted as acute ischemic infarction in cranial CT (Figure 6). Diffusional restriction consistent with acute ischemia in right basal ganglia and cerebral, cerebellar millimetric enhancing foci consistent with aspergillosis were reported in cranial and diffusion magnetic resonance imaging (MRI) (Figure 6). In MR angiography, right middle cerebral artery was occluded from M2 segment to end which was also associated with Aspergillus infection (Figure 6). Voriconazole, amphotericin B, vancomycin, and meropenem were started. Intravenous immunoglobulin, 1 gr/kg/day, was given for two days. Fever was controlled and her general condition improved. Acetylsalicylic acid treatment was commenced to prevent further infarction.\nNeurological findings regressed with decreased facial asymmetry and increased motor strength in the follow-up. Parenteral antifungal treatment was continued for two months and she was discharged with oral voriconazole and negative blood Aspergillus antigen. The ischemic lesion in the right basal ganglia showed chronicity and appeared as cystic encephalomalacia; most of the cerebral/cerebellar foci were smaller than before and some disappeared in the control MRI five months after the initial evaluation (Figure 7). Due to the severe course of her disease, HSCT was planned and due to the lack of full matched relative, an unrelated donor search is initiated.",
"gender": "Female"
}
] |
PMC5259602
|
[
{
"age": 73,
"case_id": "PMC4993919_01",
"case_text": "A 73-year-old male from a remote village presented with complaints of intense itching and crawling sensation with maggots wriggling and falling from the wound of left orbit since 1 week. This was associated with pain and foul-smelling purulent discharge from the wound. He had a history of surgical removal of the pigmented nonhealing ulcerated lesion in left lower eyelid 9 years ago, reported as basal cell carcinoma.\nAt presentation, the unaided visual acuity was 6/18 and best corrected visual acuity was 6/9 in right eye. The rest of the findings in the right eye was normal. In left orbit examination, there was a large fungating, foul-smelling, ulcerated mass with wound extension up to eyebrow superiorly and malar region inferiorly and up to lateral canthus and medial canthus. Necrotic tissues along with crusts and scabs were present within and at the wound edges along with granulation tissues. There was intense foul smell and purulent discharge with multiple maggots crawling over the wound. The left eyeball was not seen.\nInitially, around 100 maggots were manually removed and debridement of necrotic tissues was done under local anesthesia (Figure 1). Exposed bone edges of lateral wall of the orbit were noticed after sterile dressing. The patient was started on oral antibiotics and analgesics. He also received single dose of oral Ivermectin (9 mg, 200 mcg/kg) following which the patient had significant relief from pain and discomfort. Dead maggots were easily removed from the wound and the rapid wound healing ensued. The left socket was covered with healthy granulation tissues and was maggot-free within few days.\nThe CT scan of orbit and paranasal sinuses revealed left anophthalmic socket with soft tissue lesion in left orbit and maxillary sinus along with erosion of orbital floor and lateral wall of the orbit (Figure 2). However, orbital apex and cranial fossa were not involved. Nasal endoscopy revealed only streaks of mucopurulent discharge in maxillary sinus. Punch biopsy was done from the wound margins and central region and sent for histopathological evaluation. The biopsy report revealed basal cell carcinoma invasive into the left orbit.\nHence, the patient underwent uneventful extended exenteration of the left orbit and the socket was covered by transposition of myocutaneous flap from forehead and temporal region (Figure 3). The postoperative period was also uneventful and patient recovered well. The patient was reassessed 7, 14, 30, and 60 days after the discharge from the hospital with complete healing of the wound.",
"gender": "Male"
}
] |
PMC4993919
|
[
{
"age": 8,
"case_id": "PMC4524006_01",
"case_text": "This 8-year-old boy presented with complaints of progressively worsening headaches along with vomiting and intermittent fever since 20 days. There were no significant findings on general physical and neurological examination. The patient's routine laboratory investigations were normal. A magnetic resonance imaging (MRI) brain was performed which showed multiple intracranial cysts predominantly in the right frontal region with significant mass effect [Figure 1]. The patient's chest X-ray, ultrasound abdomen, and eosinophil counts were normal. The patient was started on dexamethasone, leviteracetem, and albendazole and scheduled for surgery.\nA frontoparietal craniotomy was performed. There was significant dural tension, and a c-shaped durotomy was done which revealed a huge hydatid cyst extending toward the lateral ventricle [Figure 2a]. A soft rubber catheter was inserted between the brain parenchyma and the cyst capsule (Dowling's technique); a cleavage plane was established using warm hypertonic saline and the cyst was delivered unruptured [Figure 2d]. Numerous daughter cysts were then identified which were carefully delivered unruptured using the same technique [Figure 2b and c]. We were able to remove all of the 19 cysts without rupturing the cyst capsule this way. An endoscope was used after removing all the cysts to make sure that none of the daughter cysts was left behind. The cavity was copiously irrigated with hypertonic saline and hydrogen peroxide. Histopathological examination confirmed hydatid cyst and no bacterial agent was isolated.\nThe patient continued taking albendazole (200 mg, BID), dexamethasone, cefazolin, and levetiracetam postoperatively and had an uneventful postoperative course. The patient was seen in clinic on 3 months postoperative visit and his complaints of headache and vomiting had completely resolved. His neurological examination was completely normal and considering financial constraints a follow-up computed tomography (CT) scan was thus not performed.",
"gender": "Male"
}
] |
PMC4524006
|
[
{
"age": 49,
"case_id": "PMC5839875_01",
"case_text": "A 49-year-old female patient, who suffered from an iliofemoral deep vein thrombosis (DVT) due to the presence of chronic obstruction of the iliac vein system, underwent venous stenting using a venous stent for recanalization (Boston Scientific, EPIC Stent, size 12 mm/40 mm). One hour postprocedural echocardiography and computed tomography scan ( Fig. 1 ) revealed stent migration into the subvalvular chordal structures of the right ventricle causing significant tricuspid regurgitation. The patient became hemodynamically unstable due to severe cardiac arrhythmias with heart rates up to 180 per minute and was scheduled for emergency surgery. \nMedian sternotomy and bicaval cannulation for cardiopulmonary bypass was performed. Transesophageal echocardiography showed further migration of the stent toward the right ventricular outflow tract. To prevent further migration into the pulmonary vasculature, manual compression was applied. The right atrium was opened in beating heart technique to locate the stent.\n Despite the fact, that the stent was entrapped by subvalvular chordal structures of the tricuspid valve due to the stent design with wire brackets, it was possible to recover it without harming the tricuspid valve and adjacent structures ( Fig. 2 ). The postoperative course was uneventful and the patient was discharged on postoperative day 7. Postoperatively, the patient received warfarin. No reocclusion of the iliac vein occurred and the patient underwent no redo stenting. The patient is in a good condition 1 year after the procedure.",
"gender": "Female"
}
] |
PMC5839875
|
[
{
"age": 9,
"case_id": "PMC6296693_01",
"case_text": "In Apr 2008, a 9-yr-old girl with initials A.S. (born in 1999, in Maglaj, Bosnia and Herzegovina) was admitted into the General Hospital Tesanj (Tesanj, Bosnia and Herzegovina) with a severe headache, mental confusion, high fever, and a cough. Neither the patient's own medical history nor that of her family contained details of any specific disorder. Both her birth weight (3850 gr) and her birth length (58 cm) were considered normal. Prior to that admission to the hospital, she manifested no cognitive disabilities. She was diagnosed with having epilepsy with mental disorientation and she was treated with phenobarbitone, sodium valproate, and lamotrigine. Then, in 2010, she started having seizures: they would begin with nausea, impaired vision, and a loss of consciousness. During the seizures, her eyes were tightly closed and she exhibited no twitching of her legs nor her arms. After ten to thirty min, the patient would regain consciousness and would complain of feeling cold at the terminal part of extremities. Additionally, she would feel pain in her ankles, with bruising joints, after which the pain would progress towards her toes, followed by swelling and reddening. Magnetic resonance imaging (MRI) of the patient's head showed no apparent changes in the structure of the patient's brain. \nDuring the third year following the onset of her symptoms and her first seizure, the patient experienced a different type of \"seizure\" during her sports class: she began to walk aimlessly and insecurely, with tottering, she had a fixed gaze, pale face, and was rambling (calling a friend by her name over and over again). However, she did not lose her balance and did not fall. In addition, she manifested no twitching of extremities. That particular \"seizure\" lasted for about ten minutes, after which she regained consciousness. However, following that particular seizure the patient failed to re-establish her previous state: she had absent gaze, difficulty using cutlery, she lost her sense in space and time, and she did not recognize her parents and people she previously knew around her. On one occasion, she had a generalized epileptic seizure.\nIn July 2011, the patient experienced a sudden loss of consciousness, and she lost her balance and fell, her body becoming rigid and cyanotic, without twitching of the extremities, while her eyes were closed. At the time, the patient's pupils were round, symmetrical, with proper response to light. Following recovery from this seizure, the patient had difficulty walking independently; she walked aided and her walk was atactic (suggesting a lack of muscle coordination), with significant deviation to the left. She also had difficulty in performing a walk on heels and toes and could not walk in a straight line. Dystonia of torso and extremities was present. Romberg was unstable, with a deviation to the left. Finger to nose test was abnormal (suggesting dysmetria). Gross motor abilities test was in order. Muscle tendon reflex (MTR) was symmetrical, live. Right, Babinski sign was positive. Lumbar puncture test, as well as findings of ophthalmologists and cardiologists, were without noticeable pathologies. Hormonal status of the patient was within the normal range. An electroencephalogram test (EEG) showed continuously discharging of the high voltage Delta Theta activity with interposed sharp and steep waves of high voltage and paroxysmal high voltage spikes, as well as multiple spike-and-wave discharges. During the stay at the hospital, the EEG registration did not change. The patient was subjected to additional MRI scans which revealed no apparent changes in the brain structure. Seizures were classified as visually partial twitches, eventually becoming myoclonic, and generalized tonic-clonic twitching. At this time, the patient exhibited evident cognitive deterioration. No cranial nerve deficits were present, but rapid irregular myoclonic twitches that were palpable at rest were present and were increased by voluntary movements of the upper limbs. There was no sign of Babinski. The patient was able to cooperate with the doctor during the examination. In addition, the patient was decelerated with a little verbal and motor activity.\nGenetic testing was carried out in Genoa, Italy, on Mar 2013, from the DNA that was extracted from leukocytes of peripheral blood. Analysis of exons 1-4 of the EPM2A gene (NM_005670) and the single exon, exon 1, of the NHLRC1 gene (NM_198586), using direct sequencing, was performed. Multiplex Ligation-dependent Probe Amplification (MLPA) method was used to examine the genes and the genomic region that includes the region from exons 1 and 4 of the EPM2A gene and exon 1 of the NHLRC1 gene. The genetic testing identified that the patient is the carrier of the homozygous 1-bp deletion, 990G, within the NHLRC1 gene. Following the result of the genetic testing, clonazepam was included in the patient's therapy. \nIn July 2015, levetiracetam was added to the therapy. In May 2015, treacheostoma was placed, as well as percutaneous endoscopic gastrostomy. Currently, (Apr 2017), the patient is bedridden, in a continuous horizontal position, with the rapid irregular myoclonic twitches noticeable at rest, and increased by voluntary movements of the upper limbs. Furthermore, the patient also experiences frequent episodes of fever, which is insensitive to antipyretics.",
"gender": "Female"
}
] |
PMC6296693
|
[
{
"age": 39,
"case_id": "PMC10265348_01",
"case_text": "A 39-year-old female physician visited the Occupational Health and Safety Office (OH&S) at the Faculty of Medicine Khon Kaen University (KKU) for counseling on her latex allergy problem. She had a history of two episodes of severe anaphylaxis due to latex exposure. In addition, she suffered from atopic dermatitis and controlled hypothyroidism since her childhood.\nIn 2001, in a surgical rotation, she was routinely assigned to assist the surgeon in the surgical field for 4 h a day. She regularly wore powdered latex gloves five pairs per day. As a result, she developed on-and-off vesiculopapular rashes, mainly on the dorsal side of both hands. She then applied a topical corticosteroid to control the disease.\nIn 2004, she worked as a physician and suffered from glove-related contact urticaria. Her skin manifestation was mostly wheal and flare on both hands and arms, with severe pruritic symptoms. She, therefore, decided to put on plastic gloves underneath the powdered latex gloves. However, the symptoms were commonly recurrent. As a result, she frequently used topical steroids to reduce her symptoms. In addition to the latex allergy, she developed allergic symptoms, including urticaria, itching, and flushing after contact with Kiwi, Jackfruit, Durian, Passion fruit, Mango, and Nam Wah Banana. However, she denied any skin prick test to confirm latex-fruit syndrome due to her previous anaphylaxis experience. In addition, as this patient is an internal medicine specialist, she confirmed her allergic reaction was caused by those fruits previously mentioned.\nIn 2013, she underwent a pelvic examination and suddenly developed flushing, syncope, and facial angioedema. She was diagnosed with anaphylaxis and was administered intramuscular epinephrine, intravenous dexamethasone, and chlorpheniramine. Her symptoms resolved, and she had no complications after 24 h. Following this anaphylaxis episode, she opted for neoprene gloves to replace the latex gloves, albeit her employer did not have any occupational health procedures to support the replacement cost.\nIn 2019, she underwent a computed tomographic (CT) colonography due to chronic constipation. Unfortunately, she developed a second anaphylaxis episode during the imaging immediately after rubber catheter insertion and prior to contrast media administration. She received emergency management for anaphylaxis and recovered without complications.\nIn 2020, she was admitted to the clinical fellowship program at KKU. She sought counseling at OH&S for evaluation and specific occupational health management of her latex allergy. According to ImmunoCAP (Phadia, Uppsala):fluorimetric enzyme-linked immunoassay tests:her latex-specific IgE was 10.20 kUA/L with negative results on other atopic allergens. She has been diagnosed with latex allergy with a history of two episodes of latex anaphylaxis.\nIn addition, OH&S has provided her with personalized occupational health programs, including personal synthetic glove replacements (i.e. nitrile and sterile neoprene gloves), preparation or prevention of possible recurrences (i.e. latex allergy labeling bracelets), and encouraging the use of non-powdered latex gloves among peer healthcare professionals to reduce airborne latex allergens. After these interventions, she has rarely experienced any allergic symptoms in the last 2 years.",
"gender": "Female"
}
] |
PMC10265348
|
[
{
"age": 52,
"case_id": "PMC6348196_01",
"case_text": "A 52-year-old Lebanese woman presented to the emergency department of the American University of Beirut Medical Center (AUBMC) complaining of redness, pain and swelling at her pacemaker site on the upper left chest wall. The symptoms started one week earlier and had worsened over few days. She had no fever or chills that day. She was previously healthy except for an unclear history of an arrhythmia that occurred in 2005 necessitating the insertion of the cardiac pacemaker. The patient also complained of right breast pain, swelling and erythema of 3 days duration. Her primary care physician had prescribed amoxicillin-clavulanate for suspected mastitis. The patient also reported episodes of fever (temperature reaching 38.5 C) and chills especially at nighttime for about three months prior to this current illness. She denied localizing signs or symptoms at the time.\nOn physical examination, the patient was hemodynamically stable and afebrile. Left chest wall erythema, induration and tenderness were observed. Erosion was noted at the skin overlying the pacemaker impulse generator and wires. The right breast was swollen, diffusely erythematous, and tender. No palpable masses were appreciated. The laboratory examination revealed a normal white Blood Cell count of 5400 per cu mm, (reference range: 4000-11000), polymorphonuclear cells were 50% (reference range: 40-65), and lymphocytes were 40% (reference range: 25-40). Her creatinine was 0.6 mg/dL (reference range: 0.5-1) but her C-reactive protein was elevated at 12.5 mg/dL (reference range: 0.0-2.5). A computed tomography scan of the chest wall with intravenous contrast revealed three well-circumscribed rim enhancing fluid collections in the right breast the largest measuring 1.9 x 2 cm. There was overlying skin thickening and associated subcentimetric right axillary lymph nodes. A collection on the left side of the chest wall over the site of the pacemaker was also noted.\nOn the second day of admission, the pacemaker impulse generator and wires were removed. Purulent drainage was noticed in the pacemaker bed and sent for culture. The Gram stain showed numerous WBCs but no microorganisms. The patient received intravenous teicoplanin and amoxicillin-clavulanate empirically awaiting the culture results. An ultrasound-guided aspiration of the right breast abscess was also performed. The content was sent for microbiologic culture as well and cytologic evaluation to rule out an underlying malignancy. On the 5th day of admission, cultures from both the pacemaker bed and the right breast grew Brucella species. The titers for the direct serum tube agglutination (STA) as well as the indirect test (Brucella Capt., Vircell, Spain) were both >= 1:1280. Two sets of blood cultures done on VIRTUO Biomerieux blood culture automated system were negative.\nUpon further questioning, the patient remembered eating unpasteurized cheese several months before. She also remembered an episode of breast tenderness, swelling and warmth after that. The symptoms resolved spontaneously but were followed by a period of night sweats and low-grade fever.\nThe patient received intravenous gentamicin (240 mg intramuscularly daily) for two weeks along with rifampin (600 mg orally daily) and doxycycline (100 mg orally twice daily) for three months. At the end of her treatment, the patient reported marked improvement in her condition and complete resolution of the fever and chills. Four months later, the patient was asymptomatic, with normal physical examination. Repeat Brucella serology showed a decrease in the direct STA titer (1:320) and indirect Brucella titer (1:640). The repeated blood cultures were negative at 14 days of incubation and the breast ultrasound did not reveal a residual abscess.",
"gender": "Female"
}
] |
PMC6348196
|
[
{
"age": 70,
"case_id": "PMC10369060_01",
"case_text": "A 70-year-old female with metastatic lung adenocarcinoma presented to the Emergency Department with new-onset headaches and retrosternal chest pain radiating to the right arm.\nThe patient had stage IV lung adenocarcinoma with metastases to the pleura, pericardium, and mediastinal lymph nodes. She was on maintenance therapy with pembrolizumab and pemetrexed. She also had a history of atrial fibrillation on apixaban and had undergone pericardiocentesis earlier that same year after presenting with cardiac tamponade with a malignant pericardial effusion.\nA CT scan of the head done in the ED disclosed new brain hypodensities concerning for brain metastasis. A subsequent MRI showed changes consistent with new multifocal embolic infarcts throughout the cerebral and cerebellar hemispheres, largest in the left cerebellar hemisphere and right temporal lobe.\nDue to the presence of new multiple embolic infarcts, a transthoracic echocardiography (TTE) was then obtained and showed the presence of a small 7-8 mm soft mobile echodensity attached to the atrial surface of the mitral leaflet tips (Supplementary Video S1). Because of the underlying malignancy, NBTE was suspected but a diagnosis of subacute bacterial endocarditis could not be ruled out in the setting of immunosuppression. Blood cultures came back negative, and a workup for antiphospholipid syndrome was negative as well. A transesophageal echocardiogram (TEE) was done at our institution redemonstrating the soft mobile echodensity at the tip of both leaflets in a \"kissing-lesion\" appearance and measuring up to 1.1 cm in width. Moderate mitral valve regurgitation was noted (Supplementary Video S2).\nLaboratory tests revealed an elevated high-sensitivity troponin level of 364 (up from a baseline of 44 previously) alongside new lateral ST depression at V4-V6 and new T-wave inversions on ECG. To further investigate the presentation of atypical chest pain with elevated troponins, a cardiac MRI demonstrated signs of myopericarditis.\nBrain Metastasis, NBTE, Subacute bacterial endocarditis, Myxoma, Papillary fibroelastoma, NSTEMI, Myocarditis.\nThe diagnosis of NBTE in the setting of a multifocal stroke with peri-infarct edema complicated the management plan of the patient due to the risk of hemorrhagic transformation of the ischemic stroke. The NBTE and subsequent strokes occurred despite adequate dosing and adherence to anticoagulation with apixaban. This was considered an apixaban failure.\nAfter careful review and consideration by the multidisciplinary team and shared-decision making with the patient, a decision was made to transition the patient to parenteral anticoagulation immediately due to the high risk of recurrent embolization in the setting of apixaban failure. The patient was started on a lower dose of enoxaparin initially (40 mg BID subcutaneous) due to the concern of hemorrhagic transformation. The dose was titrated up to 1 mg/Kg twice daily (70 mg). Anti-Xa levels were checked 4 h after the 4th dose and demonstrated therapeutic levels of 1.01. A repeat CT of the head was performed after 2 therapeutic doses (70 mg) of enoxaparin to assess for hemorrhagic conversion of infarcts. She was discharged on therapeutic low molecular weight heparin (LMWH) therapy, and a TEE repeated after 4 weeks of therapy showed complete resolution of the NBTE (Figure 1, Supplementary Video S3).",
"gender": "Female"
}
] |
PMC10369060
|
[
{
"age": 3,
"case_id": "PMC8268003_01",
"case_text": "Sixty-three years old woman, suffering from Recurrent Depressive Disorder (F33). Patient is married with three children and does not suffer from psychiatric comorbidity including substance abuse. Physically, recurrent urinary tract infections were recorded on outpatient follow-ups by an urologist, no active infection was present during our research recruitment or follow-up. The patient does not take daily medications, other than the psychopharmacological treatment. The patient experienced her first MDD episode at the age of 39, and suffered from seven recurrent episodes since then. Each episode lasted between 4 weeks and several months, in two of the episodes she was severely depressed and required hospitalization and electroconvulsive (ECT) treatment. Between episodes as well as at the time of recruitment, she was in remission. Her psychopharmacological treatment at time of recruitment included PO TAB Sertraline 100 mg X 2/d, Mirtazapine 30 mg X 1/, Clonazepam 1 mg X 2/d, and P.O TAB Quetiapine XR 100 mg X 1/d. No recent changes in her medications was made.\nShe was recruited as part of a long-term follow up study, including weekly WatchPAT device recording (which the investigators were blinded from), and a monthly clinical evaluation. WatchPAT is a wrist-worn device, designed for ambulatory Sleep Apnea tests, capable of detecting REM sleep through analysis of Heart Rate and Peripheral Arterial Tone. During our study, the patient placed the device on her wrist before going to bed, as well as placing a probe on her finger. During the night she slept with the device, and in the morning returned it to the box.\nHer baseline MADRS score (used as inclusion criteria) was four, compatible with state of depression in remission. She was also evaluated for BDI-II score (used for follow up), with a result of six [cutoff score used to identify potentially clinically significant depression is 0-13 to indicate minimal or no depression; 14-19, mild depression; 20-28, moderate depression; and 29-63, severe depression ].\nAfter signing the informed consent forms for participation in the study, she received a WatchPAT device, and began follow up.\nHer first sleep study showed the following results, indicating normal sleep variables:REM Latency (min): 117, Sleep Latency (min): 15, Proportion of REM sleep 19.1%, Total Sleep Time 6 h 36 min (examples of data obtained from sleep tests in are presented in Figures 1, 2).\nAs shown in Figures 3, 4, Rem Latency was gradually reduced over the following weeks, followed by a significant reduction to 53 min. At the same time, the BDI-II data obtained showed no significant change in self-report. She later complained of lack of energy and asked to stop using the monitoring watch. After a month of subsequent BDI-II follow-up, significant depressive recurrence was discovered and the study was discontinued. Of notice, in several consecutive follow-ups, the patient refused to change her medications, reporting only subjective feeling of anxiety, relating them to the Covid-19 crisis. She agreed to change her psychopharmacological treatment only a month later, and begun reporting subjective improvement. Interestingly during the Covid-19 crisis, she did not leave her house, therefore ambulatory sessions were done using telemedicine platform.",
"gender": "Female"
}
] |
PMC8268003
|
[
{
"age": 3,
"case_id": "PMC6350110_01",
"case_text": "A 3-year-old boy was referred to our clinic for further investigation of a mass in the right hemithorax. Present illness started 5 days ago with fever, cough and wheeze that complicated with and signs of respiratory distress (tachypnea, intercostal retractions) two days later. A chest X-ray was performed showing a giant soft tissue, well-demarcated, well - demarked mass in the right hemithorax expanding and splaying the adjacent ribs, Fig. 1. The mass was an incidental finding in the chest X-ray, as the mass was not visible, nor palpable on examination. Complete Blood Count examination was within normal limits. Signs of respiratory distress gradually resolved after the administration of inhaled bronchodilators and systemic steroids (methylprednisolone). Contrast enhanced CT images revealed a large lobulated, well defined, predominantly fatty mass originating from the chest wall. The lesion was seen to be invading between the ribs with extension into the thorax and into the overlying muscles of the thoracic wall. Inside the fatty mass there where thick enhancing septations with some nodularity. There were no calcifications. Fig. 2.\nAbdominal ultrasound was performed with normal findings. Magnetic Resonance Imaging (MRI) showed a large heterogeneous, lobulated mass in the right posterolateral thoracic wall, measuring 7,1 x 6,3 x 6,8cm. The mass contained mainly high-signal; material identical to that of subcutaneous adipose tissue in all sequences. Inside the mass there were low-signal, non-enhancing streaks probably representing fibrous tissue. There was also a mild enhancing area with high signal on T2 images probably representing myxoid cystic changes. Fig. 3. I n this patient age group the imaging findings were highly suggestive of thoracic wall lipoblastoma. Biopsy of the extrathoracic part of the tumor confirmed the diagnosis of also revealed lipoblastoma. A week later, excision of the tumor through a right posterolateral incision at the level of the fifth rib took place. The arch of the 5th rib was removed and the extrapleural part of the mass was excised. The pleura was opened and the intrapleural part of the tumor was exposed extending from the apex of the right lung to the level of the 7th rib and to the midline. The upper and the medial lobe of the lung were compressed towards the midline. Gradual removal of the tumor due to its friability took place. Finally, full excision of the tumor was managed, the lung was decompressed and a thoracic drain was left at the area of the removed mass.\nPostoperatively, the patient was stable and had an uncomplicated course. He was discharged on the 7th postoperative day with instructions. Three and six months later, on the follow up visit the boy was asymptomatic.",
"gender": "Male"
}
] |
PMC6350110
|
[
{
"age": 25,
"case_id": "PMC5111013_01",
"case_text": "A 25-year-old male student presented with pain and swelling of the right index finger following catching it in another player's T-shirt while playing rugby. On examination, he was unable to flex his distal interphalangeal joint (DIPJ). Plain radiographs revealed an avulsion fracture of the distal phalanx retracted back to the level of proximal interphalangeal joint (PIPJ).\nDescribe a classification system for zone I flexor tendon injuries.\nWhat are the options for repair of zone I flexor tendon injuries?\nWhat are the possible complications of zone I flexor tendon repairs?\nWhat is the importance of postoperative hand therapy?",
"gender": "Male"
}
] |
PMC5111013
|
[
{
"age": 75,
"case_id": "PMC9719080_01",
"case_text": "A 75-year-old male presented with six weeks of colicky abdominal pain associated with constipation. He has hypertension, hypercholesterolaemia, asthma and is an ex-smoker. He had a previous open cholecystectomy, and his last gastroscopy and colonoscopy were normal.\nHe has not had any previous presentations with abdominal pain. He has had multiple gastroscopies and colonoscopies in the past as part of the national bowel cancer screening program but however none of these showed any evidence of colitis, malignancy or any other concerning lesions.\nThe patient did not have aggravated pain, it was similar to what he was experiencing for the last 6 weeks. He had clinical signs of a partial small bowel obstruction at that stage such as not passing bowel motions, only passing flatus and being symptomatic for nausea.\nHe was afebrile, tachycardic and normotensive on arrival at the hospital. His abdomen was soft and tender centrally but had nil peritonism. He had normal white cell count, C-reactive protein, and lactate. The abdominal CT scan (diagnosed by a board certified consultant radiologist) showed dilated jejunal loops with an abrupt transition in the mid-abdomen caused by a short intussusception. The leading edge of the intussuscepted bowel had an irregular outline, which was suspicious for a small mucosal mass of approximately 2.5 cm, acting as a lead point. Distal to the intussusception, the small bowel loops and colon were collapsed (Fig. 1A, B, C and D).\nHe was resuscitated with intravenous fluids, and a nasogastric tube was inserted given the evidence of dilated small bowel loops on CT and signs of a partial bowel obstruction. About 60 ml of gastric content was aspirated initially. He was given adequate analgesia and antiemetics. The decision was made to perform surgery due to the suspicion of presence of a small bowel mass on CT leading to transient intussusception along with clinical signs of a partial small bowel obstruction.\nThe case was commenced laparoscopically, however due to nil visualisation of the suspected mass noted on CT, a mini-laparotomy was performed. There were omental adhesions to the RUQ from a previous laparoscopic cholecystectomy. The small bowel loops were not dilated. A small bowel run was performed from Ligament of Treitz (duodenojejunal flexure) to terminal ileum and it was completely normal. There was no significant dilatation, masses or intussusception. There was also no evidence of Meckels diverticulum. Other intraoperative findings included diverticulosis of sigmoid colon.\nThere were no immediate post-operative complications. He tolerated his diet and was discharged home after two days.\nA follow up was organised with his GP on discharge. Upon my conversation with the patient recently, his pain had improved since the procedure and has been taking laxatives regularly as advised. He has had no such similar episodes of pain post operatively.\nHis most recent gastroscopy and colonoscopy were normal. Given he has been asymptomatic on discharge, a plan was made to perform a MR Enterography if he does become symptomatic in the future.",
"gender": "Male"
}
] |
PMC9719080
|
[
{
"age": 39,
"case_id": "PMC7728115_01",
"case_text": "A 39-year-old man presented to the Neurology Clinic for paralysis of the left arm and half of the left face of a transient nature. A diagnostic of transient ischemic accident and antiphospholipid syndrome was established and treated with acetylsalicylic acid and folic acid. During the physical examination, a thyroid nodule was detected in the right lobe. It showed good mobility on palpation. The ultrasound (US) study revealed a single solid hypoechoic nodule with well-defined limits and peripheral vascularization, in the lower pole of the right lobe, the major axis of which was 1 cm. This nodule was classified as Thyroid Imaging Reporting and Data System (TI-RADS) 4a. In addition, a slightly hypoechogenic polylobed lesion with no well-defined limits was detected in the middle third of the left lobe, 1.15 cm in maximum diameter. The lesion was also classified as TI-RADS 4a. No cervical enlarged lymph nodes were observed. Fine-needle aspiration cytology (FNAC) diagnoses were follicular neoplasia in the right lobe and follicular lesion of undetermined significance in the left lobe. The analytical study showed that the lesions in both lobes were non-functional.\nAfter two years, the neurological symptoms had not recurred and antiphospholipid antibodies had normalized. Three years later, he presented with a sleep disorder that was classified as moderate supine apnea-hypopnea syndrome treated with automatic positive pressure in the airway. A year later, he consulted for a Bennett fracture of the left hand without displacement that was treated with immobilization. A new US study of the thyroid revealed that the lesions had slightly increased in size. The nodule of the right lobe measured 1.5 cm of maximum axis and that of the left lobe 2 cm. The TI-RADS rating scale remained the same for both lobe lesions. The new cytological diagnoses were similar to the previous ones. An otorhinolaryngological study showed no abnormalities. The patient underwent total thyroidectomy six years after the first consultation. Postoperatively, there were no complications. Blood calcium and parathyroid hormone (PTH) levels were normal. Both thoracoabdominal and abdominopelvic computed tomography scans with contrast showed no significant changes. The patient was doing well three months after the intervention.\nCytopathological findings\nFNACs were performed on the patient with US control. The cytological smears were fixed in an ethanol solution or air dried and stained with the Papanicolaou (Pap) and Diff-Quik methods. FNAC of the right lower lobe revealed moderate cellularity. There were groups of clear cells or microfollicular structures with a diffusely vacuolated cytoplasm (Figure 1A). The cell borders were moderately defined. The nuclei were round, hyperchromatic, with homogenous chromatin, and visible single nucleoli. Modest nuclear anisokaryosis was identified. Nuclear pseudoinclusions or grooves were no present. Colloid was very scant. Based on these findings the successive diagnoses in two samples were follicular neoplasia (Figure 1, B and C). FNAC of the left lobe showed moderate cellularity with follicular cells in plates and little colloid. Some cells showed irregular nuclei with grooves. Lymphocytes were seen in the background of the smears. The cytological diagnoses in two samples were follicular lesion of undetermined significance.\nHistopathological findings\nThe thyroid weighed 20 g and measured 7x5x3 cm. The right lower lobe contained a 2 cm diameter encapsulated, solid, pale tan, fleshy, nodular lesion (Figure 2). The left lobe showed two brown, non-encapsulated, poorly circumscribed nodules measuring 2 cm and 0.3 cm located in the middle zone.\nThe entire surgical specimen was fixed in 10% neutral buffered formalin. Representative tissue samples were embedded in paraffin. For routine microscopy, 4-mum-thick sections were stained with Hematoxylin and Eosin (HE), Alcian Blue (pH 2.5), Periodic Acid-Schiff (PAS), PAS-Diastase digestion method, and Mayer's Mucicarmine method. Immunohistochemical (IHC) staining was performed using the EnVision FLEX+ Visualization System (Dako, Agilent Technologies, SL, Las Rozas, Madrid, Spain). The IHC reaction was performed using appropriate tissue controls for the antibodies utilized. Automatic staining was accomplished on a Dako Omnis stainer (Agilent Technologies, SL). Antibodies used are detailed in Table 1.\nThe nodular lesion of the right lobe was well circumscribed, with a thin smooth capsule of fibrous connective tissue (Figure 3A). The cells were grouped in solid areas showing a diffuse, trabecular, or nesting pattern of growth (Figure 3B) with occasional formation of microfollicular structures with central lumen surrounded by clear cells (Figure 4A). The lumens contained PAS-positive colloid (Figure 4B). These cells were large, round to polyhedral, with an abundant clear cytoplasm showing an extremely fine granularity due to fine vesicles. Negative Alcian Blue and Mucicarmine stainings in these cells excluded the presence of mucin. The PAS staining accentuated the cytoplasmic granularity (Figure 4B) and this reaction was diastase resistant indicating the absence of glycogen. The nuclei were central, regular, often with visible nucleoli. The vascularity within the lesion was not prominent. After multiple sections, there was no evidence of multi-nucleated giant balloon cells, spindle cell component, necrosis, mitoses, and extracapsular growth or vascular invasion.\nThe IHC panel revealed the tumor cells positive for pan-cytokeratin (CK) AE1/AE3 (Figure 5A), thyroglobulin (TGB) (Figure 5B), paired box gene 8 protein (PAX8) (Figure 5C), and thyroid transcription factor-1 (TTF-1) (Figure 5D), whereas no immunoreactivity was seen for renal cell carcinoma marker (RCCM), cluster of differentiation 10 (CD10), carbonic anhydrase IX (CAIX), anti-mitochondrial antibody (AMA), PTH, p53 protein, anti-human melanosome [human melanoma black 45 (HMB45)], S100 protein, and smooth muscle actin (SMA). The Ki67 index was around 1%. A diagnosis of complete clear cell change in follicular adenoma of the thyroid was made. Besides, intrathyroidal ectopic parathyroid without histological abnormalities was also found in the right lower lobe. The nodules of the left lobe corresponded to conventional hyperplasic nodules.",
"gender": "Male"
}
] |
PMC7728115
|
[
{
"age": 46,
"case_id": "PMC8554224_01",
"case_text": "The patient was a 46-year-old man with a history of recurrent cough, expectoration, and a 3-year history of progressive dyspnea. Before admission to our hospital, he was diagnosed with chronic bronchitis and bronchiectasis at other hospitals and had received antibiotic treatment numerous times. Despite antibiotic treatment, his symptoms progressively worsened such that he required oxygen therapy and ECOG performance status of him was 4. A physical examination revealed that his respiratory rate was 25 cycles per minute. Moreover, diffuse wheezing could be heard in both the lung fields. Laboratory findings included leukocytosis (11.52 x 109/L) and significantly reduced partial pressure of oxygen (63 mmHg). Arterial blood gas analysis revealed an oxygen uptake of 3 L/min. We also have conducted related inspections to rule out systemic involvement. Results of tests for liver and kidney function, myocardial enzyme levels, NT-proBNP, and troponin levels were unremarkable, and no proteinuria was found on 24-h urine analysis. Color Doppler echocardiography showed normal cardiac structure. No abnormalities were found in gastrointestinal endoscopy. The results of the PPD test were negative, as were all sputum samples for bacteria, acid-fast bacilli, and fungi. The patient's lung function test revealed obstructive dysfunction of pulmonary ventilation with a severe reduction in small airway function, and his bronchodilator test result was negative.\nChest computed tomography (CT) revealed that the tracheal walls and bronchi were extensively uneven to different degrees and exhibited luminal stenosis (Figures 1A,B). Electronic bronchoscopy revealed completely irregular and thickened bronchial mucosal surface with prominent nodes accompanied by a small amount of white secretion (Figure 1C). The lumen of the right middle bronchus exhibited extreme narrowing, and pathological examination of the tracheal mucosal biopsy specimen at the site of narrowing revealed mucosal calcification and fibrous hyperplasia with deposition of kappa light chain, as well as the following: PAS stain (-), acid-fast staining (-), and Congo red stain (+) (Figure 1F).\nSerum electrophoresis showed a monoclonal spike, although immunofixation electrophoresis (IFE) revealed a double monoclonal component: IgA kappa and IgG kappa (Figures 1D,E). Serum immunoglobulin A (IgA), IgM, and IgG levels were 1.48 g/L (0.7-4.0 g/L), 0.62 g/L (0.4-2.3 g/L), and 5.23 g/L (7.0-16.0 g/L), respectively. The free kappa and lambda light chain levels were 15.8 mg/L (normal, 6.7-22.4 mg/L) and 17.8 mg/L (normal, 8.3-27.0 mg/L), respectively, with a normal kappa/lambda ratio of 0.888 (normal, 0.31-1.56). Bone marrow cytology revealed an irregular monoclonal plasma cell population (CD45+, CD38+, CD138+, CD200+, and ckappa+), representing 0.86% of the total leukocytes.\nThe patient underwent further examinations to determine the extent of systemic involvement. Echocardiography revealed no signs of myocardial involvement. Skeletal osteolytic lesions, organomegaly, and neuropathy were absent. Blood biochemistry revealed normal levels of creatinine, liver enzymes, and alkaline phosphatase. Based on the comprehensive evaluation described thus far, the patient was diagnosed with localized amyloidosis given the observed lack of extrapulmonary organ involvement.\nThe broad endobronchial manifestations enabled the performance of endoscopic resection of the amyloid masses under combined rigid and soft bronchoscopy guidance. The patient underwent rigid bronchoscopy with argon plasma coagulation (APC) and Nd:YAG laser debridement for the treatment of his endobronchial obstruction. However, this did not improve the patient's dyspnea with massive expectoration. Therefore, we attempted to relieve his persistent endobronchial obstruction by initiating external beam radiation therapy (EBRT) at a dose of 20 Gy in 10 fractions of 2 Gy each. However, the patient's dyspnea showed no significant improvement at 3 months after the EBRT. Another bronchoscopy revealed progression of the tracheobronchial lesions due to the endobronchial situation. Subsequently, he experienced an aggravation of dyspnea, developed an inability to move, and reported poor quality of life.\nThe patient then consulted with our hematology department. Although he had not previously received systemic treatment for local amyloidosis, we noticed that local treatment could not alleviate his symptoms or delay the disease progression. Therefore, given his strong desire for treatment, we administered systematic chemotherapy. He was treated with one cycle of CyBorD [subcutaneous (SC) bortezomib: 1.3 mg/m2 on days 1, 4, 8, and 11; intravenous (IV) cyclophosphamide: 300 mg/m2 on days 1-4; IV dexamethasone: 20 mg on days 1-4 and 8-11]. Interestingly, the patient's symptoms of dyspnea improved significantly after treatment. In addition to a decrease in sputum volume, he began to perform simple daily activities, and evidence suggested functional improvements in oxygenation and spirometry findings (Table 1). However, follow-up bronchoscopy and chest CT performed 1 month later revealed no improvements in the obstruction. After one cycle of treatment, there was minimal secretion, the patient did not require inhaled oxygen, and he could walk independently. The patient has completed three cycles of treatment, and the ECOG performance status is 0. The patient exhibits good tolerance to CyBorD regimen, and no treatment-related adverse reactions such as peripheral neuritis, infectious disease and bone marrow suppression have occurred. The patient's ECOG score is reduced from 4 to 0 which shows an improvement of life quality, and the pulmonary function test results show that obstructive ventilatory disorder is improved. The patient is evaluated a validated organ response.",
"gender": "Male"
}
] |
PMC8554224
|
[
{
"age": 61,
"case_id": "PMC10202565_01",
"case_text": "A 61-year-old man with a 20-year smoking history and peripheral arterial disease presented to his regional hospital with left lower extremity weakness, aphasia, and worsening dyspnea. Magnetic resonance imaging (MRI) confirmed right middle artery cerebral stroke as well as 85% stenosis of the right internal carotid artery (ICA). An uptrending troponin-I to 3.510 ng/mL prompted the diagnosis of non-ST elevation myocardial infarction and immediate cardiac catheterization followed. Cardiac catheterization revealed 70% left main coronary artery stenosis and complete occlusion of the distal right coronary artery. Two days after catheterization, the patient went for right ICA endarterectomy and two-vessel CABG with left internal mammary artery (LIMA) to left anterior descending artery and saphenous vein graft to obtuse marginal along with mitral valve repair with a 28-mm annuloplasty Physio II Ring (Edwards Lifesciences, Irvine, California, United States). The patient was supported with inotropes, vasopressors, and intra-aortic balloon pump postoperatively.\n On postoperative day 6, a chest computed tomography scan performed due to respiratory distress revealed a potential LVPA. Subsequent transesophageal echocardiography (TEE) identified an outpouching of the basal inferolateral left ventricular wall as well as a supra-annular and posterolaterally dehisced mitral annuloplasty ring. The patient was subsequently transferred to our institution, where noncontrast cardiac MRI confirmed the finding and identified a significant amount of layered thrombus. A repeat TEE at our institution further characterized the dehisced mitral ring as well as the LVPA contained by the posterolateral pericardium ( Fig. 1 ). The patient subsequently underwent redo sternotomy for repair of the LVPA repair along with MVR ( Fig. 2 ). \n During surgery, the right ventricle was found to be densely adhered to the sternum likely from severe pericarditis due to residual intrapericardial blood. The LIMA was identified and prepared for temporary occlusion during the cardioplegic arrest. After standard bicaval cardiopulmonary bypass was established and cardioplegic arrest, the left atrium was opened, and the mitral valve was inspected. The dehisced annuloplasty ring was removed, and the whole posterior leaflet was detached from the annulus. The LVPA neck measuring 8 x 6 cm was identified under the P3 area of the annulus and extending toward the lateral commissure. The anterior leaflet was detached from the annulus, and while preserving all chords, the A2 segment was divided in the middle separating it into medial and lateral portions in preparation for total chordal-sparing MVR. Given that the pseudoaneurysm defect was much larger than the orifice of the mitral valve, it was apparent that bovine patch repair via intracardiac approach would not be feasible even if all mitral leaflets were detached. We therefore decided it was necessary to patch the pseudoaneurysm via an external approach. The 12 x 10 x 9 cm pseudoaneurysm was first exposed and incised. Subsequently, a large amount of thrombus was removed with great care to avoid any fragmentation. The pseudoaneurysm wall was then carefully cleaned of all thrombi with high power suction with an open-ended tip ( Fig. 3A ). The neck of the pseudoaneurysm was patched on the posterior aspect of the heart using a bovine pericardium patch and sewn to the underside of the mitral annulus extending to the anterior and medial aspects of the ventricle ( Fig. 3C ). The remaining flaps of the pseudoaneurysm were excised and closed by suture. \n In repairing the mitral annulus, chordae tendineae were spared to support the posterior annulus with parts of the anterior and posterior leaflets and to maintain left ventricular structure. Pledgeted sutures in a noneverting manner were placed from the ventricular side to the atrial side at the level of the A3-P3 commissure ( Fig. 3D ). Sutures were placed through the patch and the annulus was sized to accommodate a new 29-mm pericardial Magna Valve (Edwards Lifesciences). The sutures were secured, and the atrium was closed. The cross-clamp time was 180 minutes, and total cardiopulmonary bypass time was 267 minutes. Final postoperative TEEs confirmed successful closure of the LVPA, normally functioning mitral valve prosthesis, and an ejection fraction of 50%.",
"gender": "Male"
}
] |
PMC10202565
|
[
{
"age": 49,
"case_id": "PMC4898297_01",
"case_text": "A 49 year-old woman presented with severe, sudden, sharp pain in her right elbow after performing triceps exercises. The pain decreased from a 7/10 to 3/10 severity over the course of one week. However, the patient noted increasing bony prominence over her right lateral elbow. On physical examination, there was a tender bony prominence over the lateral epicondyle. Bilateral elbow radiographs demonstrated hyperostosis, especially involving the proximal ulnas, bilateral triceps tendon insertions, and the right lateral humeral condyle (Figure 1, Figure 2, Figure 3). No fracture, dislocation, joint effusion, or radiographic evidence of triceps tendon tear was evident in the right elbow (Fig. 3).\nAlthough no prior elbow radiographs were available for comparison, radiographs of the thoracic spine from two years prior also showed flowing ossification of the anterior longitudinal ligament with relatively maintained disc spaces (Fig. 4). An AP radiograph of the pelvis from one year prior showed multiple sites of hyperostosis, including at the iliac crests (Fig. 5).\nInitial differential-diagnostic considerations included diffuse idiopathic skeletal hyperostosis (DISH) or sports activity requiring bilateral overhead throwing. Investigation of recent clinical notes revealed a history of autosomal recessive congenital icthyosis (lamellar icthyosis) requiring long-standing treatment with 13-cis-retinoic acid. Although the patient's radiographic findings are in keeping with DISH, her young age and long history of retinoic acid therapy strongly suggest retinoic acid arthropathy as the correct diagnosis.",
"gender": "Female"
}
] |
PMC4898297
|
[
{
"age": 52,
"case_id": "PMC4309504_01",
"case_text": "A 52-year-old woman with a history of multiple episodes of paroxysmal supraventricular tachycardia underwent electrophysiologic studies and a catheter ablation procedure. The 12-lead electrocardiogram during tachycardia showed a long RP tachycardia with negative P waves in leads II, III, and aVF. At baseline, dual atrioventricular (AV) and ventriculoatrial (VA) nodal conduction was elicited by atrial and ventricular premature stimulation. During intravenous administration of isoproterenol, the earliest site of atrial activation during ventricular pacing was observed near the His bundle, and a previously recorded narrow QRS tachycardia was reproducibly induced by premature or rapid ventricular apical pacing, with an initial V-A-A-V activation sequence (Fig.1). During tachycardia, the HA and AH intervals measured 71 and 342 milliseconds, respectively, and the earliest atrial activation was recorded at the ostium of the coronary sinus (CS). The earliest first \"A\" of the initial \"V-A-A-V\" activation sequence was recorded in the His bundle region, reflecting conduction over a fast pathway (FP), as was observed during ventricular pacing, while the second \"A\" was recorded near the CS ostium, as was observed during the tachycardia. The interval between the first and second \"A\" was often shorter than the subsequent tachycardia cycle length. Premature ventricular stimuli delivered during tachycardia while the His bundle was refractory did not reset the atrial cycle. From these observations, what is the mechanism of tachycardia?",
"gender": "Female"
}
] |
PMC4309504
|
[
{
"age": 0,
"case_id": "PMC8493334_01",
"case_text": "A 7-month-old boy was referred to the Second Affiliated Hospital (also known as Yuying Children's Hospital) of Wenzhou Medical University after identification of an intracranial lesion by magnetic resonance imaging (MRI) scans that had been performed 12 days postnatally at a local hospital. He was born at full-term after an uneventful pregnancy by normal spontaneous vaginal delivery. At birth, he weighed 3.8 kg and was 50 cm in length. Physical examination on admission to our hospital revealed faltering growth (6.0 kg and 58 cm) [WHO criteria at this age is 6.7-10.3, 8.3 kg (+- 2 standard deviation, 50th percentile) and 64.8-73.5, 69.2 cm (+- 2 standard deviation, 50th percentile)]. There were also dysmorphic features including left-hand polydactyly, syndactyly (Figure 1a) and a reducible omental hernia (1.5 x 1.5 cm). Flexible bronchoscopy showed bifid epiglottis, tracheal diverticulum, and laryngomalacia (Figures 1b,c). Neurological examination showed a normal muscle tone, strength, and reflexes. Endocrinology evaluations of pituitary, thyroid and cortisol hormones were within normal range. However, his parents reported that patient experienced frequent attacks of inappropriate laughter which suggested features of gelastic seizures. Unfortunately, electroencephalography was not available for such a small child to provide more objective evidence of seizure activities.",
"gender": "Male"
},
{
"age": 0,
"case_id": "PMC8493334_02",
"case_text": "Computed tomography (CT) and MRI scans showed a suprasellar hypothalamic lesion suggestive of a hamartoma (Figures 1d-f). Surgery was performed because of parents' concerns over the faltering growth. The intracranial lesion was partially resected via transcallosal anterior interforniceal approach through the space between the internal carotid artery and optic nerve, and part of the tumor was left to avoid injuring the hypothalamus. The intraoperative diagnosis was hamartoma, and tumor samples were sent for histopathological and molecular testings. Postoperative course was uneventful, and repeated CT and MRI confirmed some residual tumor (Figures 1g,h). Patient was discharged 2 weeks later, and follow-up MRI 1 year later showed subtotal removal of the tumor (Figure 1i). Since the operation, he experienced normal growth without signs of gelastic seizures. At the clinical follow-up when he was 20-months-old, patient showed recovery of growth velocity (12 kg weight and 70 cm height). MRI at this time showed the residual tumor to be of a stable size and to be located in the tuber cinereum.",
"gender": "Male"
}
] |
PMC8493334
|
[
{
"age": 53,
"case_id": "PMC7533312_01",
"case_text": "A 53 year-old Caucasian female with history of sleep apnea and acid reflux presented with gradual swelling of her forehead for 3 months. She denied having any history of chronic sinusitis or illicit drug use. She did smoke tobacco, 1 pack per day for 30 years. About 6 months prior to presentation, the patient had undergone a tooth extraction; shortly thereafter that she developed symptoms of sinus pressure and congestion. She was initially treated with multiple courses of antimicrobials and steroids for presumed sinusitis without improvement. About three weeks prior to presenting, the patient underwent sinus surgery and was placed on oral levofloxacin for five days. No cultures were obtained at that time.\nAbout a week after surgery, the patient started to develop fevers, chills and worsening headache. She reported that while she did have forehead swelling prior to surgery on her sinuses, it became much more pronounced post-operatively. Three weeks after surgery the patient had a CT head that revealed a peripherally enhancing fluid collection measuring 3.1 cm x 5.9 cm along the right frontal scalp in close proximity to the frontal sinuses and enhancement of the frontal subdural space. MRI head confirmed the findings (Fig. 1). The patient underwent surgical debridement of the abscess with frontal sinus trephination. Cultures were obtained, which grew Actinomyces naeslundi. Due to history of being allergic to penicillin the patient was treated with intravenous (IV) ceftriaxone for 9 weeks and then transitioned to oral doxycycline for a total of 6 months of therapy. At 6 month follow up, her symptoms and radiological abnormalities had resolved.",
"gender": "Female"
}
] |
PMC7533312
|
[
{
"age": 72,
"case_id": "PMC8077640_01",
"case_text": "Candidiasis can be found throughout the world. The incidence of the disease is the same in men and women. This disease can affect all ages increases in infants and elderly. Cutaneous candidiasis is divided into two types namely intertriginous and granulomatous candidiasis. In intertriginous candidiasis, lesions occur on the skin folds of the armpits, groin, intergluteal, breast fold, between fingers or toes, glans penis, and umbilicus in the form of streaks that are demarcated, scaly, wet and erythematous. Lesions are surrounded by dots in the form of small vesicles and pustules or bullae that leave erosive areas. On the other hand, granulomatous candidiasis is more common in children and presents as reddish papules covered in thick brownish yellow crusts and are firmly attached to the base. This lesion may appear like a 2cm long horn and can often be found on the face, head, nails, body, and legs. We report a case of cutaneous candidiasis caused by Candida kefyr in a 72-year-old woman who responded well to topical antifungal therapy.",
"gender": "Female"
},
{
"age": 72,
"case_id": "PMC8077640_02",
"case_text": "A 72-year-old woman was consulted to the Wahidin Sudirohusodo Hospital, Makassar, South Sulawesi, Indonesia, with a chief complaint of blackish red spots on the posterior trunk since one day before admission. The initial lesion was unknown. Complaints of itching is unknown due to patient s decreased of consciousness state. The patient had a long history of immobilize for 14 days. History of similar complaint from the family was denied. History of diabetes mellitus was absent. Patient had a history of syphilis with HIV infection and got therapy of intramuscular injection 2.4 million unit of benzathine penicillin G for three consecutive weeks. He was also treated with antiretroviral therapy (ART) with tenofovir 300mg, lamivudine 300mg, and efavirenz 600mg.\nPhysical examination showed blood pressure of 100/80 mmHg, heart rate of 80 beats per minute, respiratory rate of 18 beats per minute, and temperature 36.5 C. Laboratory blood tests were within normal limits. Neurologic examination showed decreased awareness and lateralization of both sides. Dermatological examination of the posterior trunk region found hyperpigmented macules accompanied by crust, squama and erythematous macules (Figure 1). Based on the history taking and physical examination, the patient was diagnosed with sepsis, suspected meningoencephalitis, hypoalbuminemia, community-acquired pneumonia, and cutaneous candidiasis. The patient was given citicoline 500mg/12 hours/IV, omeprazole 40mg/12 hours/IV, ceftriaxone 2gr/12 hours/IV, vancomycin 1gr/12 hours/IV, vitamin B complex 1gr/24 hours/intravenously, acetazolamide 250mg/12 hours/nasogastric tube, and paracetamol 1gr/8 hours/intravenously. Topical fusidic acid cream was also applied on ulcerative lesions to avoid bacterial superinfection. For the cutaneous candidiasis, patient was treated with miconazole cream twice daily in the morning and evening and fusidic acid cream for 14 days. Direct microscopic examination using 10% potassium hydroxide (KOH) and culture were done to for further investigation on the causative agent. Direct microscopic of the skin scrapings on the back using 10% KOH showed clustered spores and pseudohyphae (Figure 2). Culture in Sabouraud Dextrose Agar (SDA) media added with chloramphenicol incubated at 25 -30 C showed mucoid brownish white colonies with smooth surfaces on the third day (Figure 3), typical of the fungus Candida sp. One week later, gram staining was carried out and positive purple color mildews were obtained (Figure 4). There were yeast cells and budding spores which were consistent with candida species. Further examination was carried out using carbohydrate fermentation to determine the type of candida which showed a change in color from purple to orange in glucose, sucrose, and lactose and gas formed in each of the reagents (Figure 5). The findings from carbohydrate fermentation test supported Candida kefyr as the causative agent (Table 1).\nData from the history taking, physical examination, and supporting examinations concluded a diagnosis of cutaneous candidiasis caused by Candida kefyr. On the fifth day of treatment the lesion showed marked improvement (Figure 6). Fusidic acid was dropped and only miconazole was continued. The patient was eventually discharged from the neurology department on the sixth day.",
"gender": "Female"
}
] |
PMC8077640
|
[
{
"age": 23,
"case_id": "PMC5778723_01",
"case_text": "A 23-year-old male presented to his primary care provider (PCP) in March 2006 with headaches, blurred vision, and diplopia. A computed tomography (CT) scan indicated mild ventricular dilation and a possible mass lesion in the region of the upper, anterior, third ventricle which was approximately 11 mm in size. A follow-up MRI revealed a hyperintense mass in the region of the foramen of Monro without significant obstructive hydrocephalus suggestive of a colloid cyst of the third ventricle measuring 11.2 mm in diameter. There was additional evidence of a pineal cyst measuring 6.34 mm. The patient was referred to our clinic in regards to operative treatment of the colloid cyst. Stereotactic aspiration of the cyst, followed by radiosurgery a week later was recommended and scheduled.\nAccordingly, utilizing the Leksell frame and transaxial MRI scan of the brain without contrast [Figure 1, Left], the X-Y-Z coordinates for the target were calculated. Aspiration of the colloid cyst was performed with a 2.1-mm Sudan needle. Point of entry in the skull was just anterior to the right coronal suture and 2 cm to the right of the midline. A whitish mucoid material was then aspirated from the colloid cyst and sent to pathology. A postoperative CT scan did not reveal any residual proteinaceous material within the anterior third ventricle. The patient was discharged home the following day in excellent condition.\nThe patient initially declined postoperative radiosurgery. Approximately 6 weeks following stereotactic aspiration of the colloid cyst the patient returned for a follow-up MRI. The MRI indicated a colloid cyst in the region of the foramen of Monro now measuring 5.5 mm in greatest diameter. The patient was again consulted by the radiation oncologist for the possibility of undergoing stereotactic radiosurgery for the recurrent cyst, however, he again elected to go home and discuss it with his friends and family before making a final decision.\nApproximately 10 weeks following stereotactic aspiration of the colloid cyst the patient elected to undergo stereotactic radiosurgery of the colloid cyst. The patient was subsequently scheduled to undergo stereotactic radiosurgery 14 weeks after the initial aspiration. Previous MRI scans were used for three-dimensional (3D) treatment planning. Treatment was carried out uneventfully with the Novalis LINAC system (Westchester, IL). The head was mobilized by the stereotactic frame. The total prescribed single dose was 18 Gy delivered with a 6-mm collimator and six arcs.\nSix months following stereotactic radiosurgery the patient underwent a follow-up MRI [Figure 1, Right] which revealed a lesion consistent with of a colloid cyst of the third ventricle measuring 7.3 mm in greatest dimension. The patient declined follow-up MRI but has reportedly remained asymptomatic since treatment for the last 10 years.",
"gender": "Male"
},
{
"age": 50,
"case_id": "PMC5778723_02",
"case_text": "The second patient was a 50-year-old woman who presented in October 2006 with numbness in her feet and a history of depression. Previous nerve conduction studies were normal. Due to a familial history of multiple sclerosis, an MRI was recommended. The MRI [Figure 2, Left] was significant for a 12-mm lesion at the anterosuperior aspect of the third ventricle in the region of the foramen of Monro suggestive of a colloid cyst. In January 2007, the patient presented again with severe headaches, dizziness, and memory loss associated with name recall difficulty for the past 5 days. At this point stereotactic aspiration of the colloid cyst was discussed and it was decided that the patient would be admitted to undergo this procedure. Stereotactic aspiration of the colloid cyst was performed, as described in case #1. Postoperatively, the patient indicated that her headache had improved and the dizziness appeared resolved. Five days after stereotactic aspiration of the colloid cyst, the patient underwent stereotactic radiosurgery of the residual lesion of the colloid cyst. The stereotactic radiosurgery was again performed similar to the procedure for patient #1. Following a detailed planning (unable to be recovered) of the procedure the total prescribed dose of 16 Gy was delivered by 5 dynamic conformal arcs utilizing the Novalis micro multileaf collimator for field shaping and blocking to a single isocenter. Treatment was carried out uneventfully and the patient was discharged home with follow-ups scheduled. The most recent MRI [Figure 2, Right] taken in January 2013 showed no evidence of recurrence of the colloid cyst. The patient has remained asymptomatic.",
"gender": "Female"
},
{
"age": 42,
"case_id": "PMC5778723_03",
"case_text": "A 42-year-old female with a significant history of depression with bipolar disorder initially presented to her family physician with complaints of headache, nausea, and vomiting over 2 weeks in January of 2009. An MRI [Figure 3, Left] revealed a mass measuring 7.7 mm x 7.2 mm within the anterior third ventricle at the foramen of Monro indicative of a colloid cyst. Stereotactic aspiration was carried out in a similar procedure as described above. Postoperatively, the patient stated that her headaches had markedly improved. The patient was then scheduled to undergo stereotactic radiosurgery for treatment of the residual cyst to prevent possible regrowth. A planning MRI [Figure 3, Right] revealed a reduction in ventricle size and no identifiable residual lesion of the colloid cyst. Based on the previous MRI, the stereotactic radiosurgical procedure was carried out in a fashion similar to that described above. A custom 5-arc radiosurgery plan with a 12.5-mm collimator using 16 Gy in a single fraction was developed and delivered to the isocenter utilizing the Novalis linear accelerator. Treatment was uneventful and the patient was discharged in excellent condition. The patient has remained asymptomatic since treatment. The patient has declined follow-up MRIs.",
"gender": "Female"
},
{
"age": 29,
"case_id": "PMC5778723_04",
"case_text": "In June 2009, a 29-year-old female patient presented to her local clinic with complaints of headache, nausea, and vomiting. The patient had experienced migraine headaches since the age of 13. CT scan of the brain [Figure 4, Left] revealed that there was evidence of a hyperdense colloid cyst within the right third ventricle at the junction of the foramen of Monro with mild dilation of the right lateral ventricle. The patient was scheduled for stereotactic aspiration of the colloid cyst to be followed by stereotactic radiosurgery.\nTwo weeks after aspiration, stereotactic radiosurgery was performed. The planning MRI revealed a small somewhat ovoid area of mixed signal intensity seen along the posterior-inferior margin of the septum pellucida in the expected area of the anterior roof of the third ventricle at a level corresponding to the foramen of Monro. These changes correspond with the area of increased attenuation on prior CTs with the size of residual lesion/cavity measuring 8.6 mm cephalo-caudad x 4.7 mm anterior-posterior x 5.7 mm transverse. The target was outlined, the isocenter was identified, and the total prescribed dose of 16 Gy was delivered by means of 7 dynamic arcs in a single fraction utilizing the Novalis micro multileaf collimator for field shape and field blocking. Treatment was uneventful and the patient was discharged in excellent condition. Three months following stereotactic radiosurgery of the colloid cyst lesion, the patient returned for a follow-up MRI (with and without gadolinium) which showed an area of approximately 6 mm of mixed signal at the anterosuperior aspect of the third ventricle in the region of the foramen of Monro. The appearance was not significantly changed from previous exams and there was no increase in fluid content. The most recent axial CT without contrast [Figure 4, Right] from October 2015 demonstrates that the previously noted hyperdense presumed colloid cyst is no longer present. Though it is well demonstrated the patient has been cleared of the colloid cyst she still experiences migraine headaches.",
"gender": "Female"
}
] |
PMC5778723
|
[
{
"age": 22,
"case_id": "PMC7034944_01",
"case_text": "A 22-year-old male presented to the Emergency Department of a community medical center with abdominal pain for 1-2 weeks. He denied any hematuria, dysuria, flank pain, fevers, bone pain, anorexia, nausea, vomiting, or weight loss. His past medical history was negative for renal calculi or any chronic illnesses. He endorsed occasional smoking, but denied any hazardous or environmental exposures through his work in construction. An initial evaluation with a non-contrast CT of the abdomen and pelvis revealed a 19cm diffusely heterogeneous right renal mass. Further evaluation with an abdominal MRI confirmed the presence of a right renal mass, measuring 20.3 x 12.6 x 10.6cm, with both solid and cystic components (Figure 1). A chest CT identified multiple sub-centimeter lung nodules. Initial laboratory testing was unremarkable with the exception of a mild leukocytosis and 2+ blood on urine dipstick.\nGiven this presentation and high suspicion for renal carcinoma, the patient was referred to a NCI-designated comprehensive cancer center for further evaluation and management of his large right renal mass. The patient was reviewed at our multidisciplinary tumor board and Pediatric Hematology/Oncology was asked to participate given the possibility of a Wilms tumor. He subsequently underwent a right open radical nephrectomy and was discharged on post-operative day 2.\nTumor pathology demonstrated an extraosseous Ewing sarcoma/primitive neuroectodermal tumor with evidence of lymphovascular invasion and microscopic positive tumor at the soft tissue surrounding the vascular margin (R1 resection). Immunohistochemical staining revealed the neoplastic cells positive for CD99 and FLI-1. Cytogenetics showed EWSR1 gene translocation involving the chromosome 22q12. The morphology, immunoprofile and chromosomal aberration support the diagnosis of PNET. (Figure 2)\nA PET/CT scan performed 2 weeks post-operatively showed residual FDG uptake in the area of the right kidney, but did not demonstrate any other significant hypermetabolic areas. The patient's subcentimeter lung nodules were considered metastatic disease based on clinical staging. A bone marrow biopsy was negative for metastatic disease. The patient enrolled in a clinical trial (NCT02306161) evaluating adjuvant chemotherapy consisting of vincristine/adriamycin/cyclophosphamide alternated with ifosfamide/etoposide in combination with ganitumab for patients with metastatic Ewing sarcoma. He also received 50.4 Gy radiation therapy to the right flank in addition to whole lung irradiation (WLI) to 15 Gy in 10 fractions. In efforts to minimize any overlap between the flank radiation and WLI, as well as minimizing secondary effects of radiotherapy, he was treated with proton beam therapy (PBT) to the flank (Figure 3).",
"gender": "Male"
}
] |
PMC7034944
|
[
{
"age": 65,
"case_id": "PMC4073032_01",
"case_text": "A 65-year-old man with a two-year history of a perianal fistula and recent worsening of symptoms underwent fistulectomy with the track completely excised. Histopathology revealed an unexpected diagnosis of moderately differentiated adenocarcinoma. A contrast-enhanced computed tomography of the abdomen and pelvis was performed which revealed a sigmoid tumor (Fig. 1). Colonoscopy revealed a normal rectum, but a circumferential ulcerating lesion 18 cm from the anal verge, confirmed by histology to be a moderately differentiated adenocarcinoma. He was referred to us for further management. The perianal scar was soft with no palpable mass. A complete staging work-up found no other evidence of metastatic spread. A day before the surgery he developed another perianal abscess (Fig. 2). Surgery consisted of abdominoperineal resection (APR) with excision of the sigmoid mass, perianal mass and the scar site of excised fistula (Fig. 3). Pathological results of the sigmoid tumor revealed moderately differentiated adenocarcinoma with focal signet ring cell morphology up to subserosal fat without lymph node involvement of 12 lymph nodes dissected (T3N0M0) with MSI-H histology (Fig. 4 A). The perianal fistula tract (Fig. 4 B,C) also revealed moderately differentiated adenocarcinoma with extracellular mucin amidst acute inflammation. Tumor was seen infiltrating the perianal skeletal muscle; however lateral and distal resection margin were free of tumor. The site of perianal abscess showed dense acute organizing inflammation with no evidence of tumor. The histologic appearances of the two malignancies were similar (Fig. 4 A,D). Immunohistochemistry for cytokeratin (CK) 7 and CK20 was performed to distinguish colorectal adenocarcinoma from anal gland carcinoma. Both the sigmoid cancer and the perianal tumor were CK7- and CK20+ and showed a similar pattern (Fig. 5A-D). The patient recovered uneventfully from surgery and no adjuvant chemotherapy or radiotherapy was planned. The patient remains well at 3 months of follow up, with no local recurrence or distant metastases identified.",
"gender": "Male"
}
] |
PMC4073032
|
[
{
"age": 58,
"case_id": "PMC3654631_01",
"case_text": "We report the case of a 58-year-old female, with a known history of multiple sclerosis that was at the time asymptomatic and under no specific therapy. She was otherwise healthy, not taking any medication. Her family history was unremarkable. The patient was referred to the hematology department with the diagnosis of T-cell lymphoblastic lymphoma. She had been observed in her local hospital two months earlier, after the incidental discovery of leukocytosis with eosinophilia, bicytopenia, and elevated lactate dehydrogenase (LDH) (Table 1). At the time, a bone marrow aspirate was performed and revealed a hypercellular bone marrow (BM) with marked hypereosinophilia, no increase in the number of blasts, and no specific morphologic alterations. Immunophenotyping and cytogenetic studies were not conducted at this point. The patient was kept under observation and remained asymptomatic, with spontaneous normalization of the hematological parameters and LDH. Two months later a cervical enlarged lymph node appeared. The excisional biopsy showed lymphoblastic lymphoma of T-cell lineage, and she was referred to our hospital for further management.\nAt admission, the patient presented with fatigue but was otherwise asymptomatic. Specifically, she denied respiratory, gastrointestinal, or other symptoms suggestive of a reactive eosinophilia. She was not a smoker and had no history of allergies. Physical examination revealed enlarged bilateral cervical, supraclavicular, and axillary lymph nodes and an enlarged spleen.\nLaboratory abnormalities included anemia, a slight leukocytosis with eosinophilia, and a normal LDH (Table 1). \nThe cervical lymph node biopsy was reviewed, and the diagnosis of T-cell lymphoblastic lymphoma was confirmed. A fine needle aspirate was conducted and flow cytometry studies showed infiltration by 92% aberrant immature T-cells that were Tdt/CD99/cCD3/CD5/CD2/CD1a/CD4 positive. The fluorescent in situ hybridization (FISH) analysis for BCR-ABL gene fusion in the lymph node aspirate was negative.\nThe BM aspirate revealed a normocellular BM with 45.8% eosinophils, relative granulocytic hyperplasia, and no lymphoblastic or myeloblastic infiltration. No dysplastic changes were found. Flow cytometric analysis did not identify an aberrant lymphoid or myeloid population; 0.3% CD34+ precursors were present. BM biopsy findings were interpreted as reactive. \nThe investigation of PDGFRA rearrangements by FISH and polymerase chain reaction (PCR) in the bone marrow was negative at this time point. Cytogenetic studies showed a normal karyotype in the 20 metaphases analyzed. \nAs part of the lymphoma staging procedures, a computed tomography (CT) scan was performed showing multiple enlarged lymph nodes (cervical, supraclavicular, axillary, mediastinal, abdominal, iliopelvic, and inguinal) as well as splenomegaly. The PET scan revealed some adenopathies with an increased metabolism. Neoplastic cells were not found in the spinal tap.\nTreatment was started according to the CALGB 9111 protocol for lymphoblastic lymphoma/leukemia, with complete remission documented after induction. The patient proceeded with the early intensifications, according to schedule, without significant toxicities, except for an allergic reaction to the E.Coli asparaginase requiring a switch to Erwinase. Central nervous system prophylaxis was performed with high dose methotrexate (MTX), and radiotherapy was not administered due to the known history of multiple sclerosis.\nSixteen days after MTX administration, the patient was admitted with fever without an obvious infectious cause. A progressive increase in the leukocytosis, with neutrophilia, eosinophilia (Table 1), monocytosis, and the appearance of immature myeloid precursors in the peripheral blood (myeloblasts 8%, promyelocytes 3%, myelocytes 3%, and metamyelocytes 4%) followed, as well as a raise in LDH levels. This picture resembled the alterations that occurred two months prior to diagnosis.\nAt this time, a repeated BM aspirate showed a hypercellular marrow, with myeloid hyperplasia, and infiltration by 11% of myeloblasts (Figure 1). This finding was confirmed by flow cytometry that identified 10% myeloblasts expressing CD34, CD117, HLA-DR, CD33, and CD13. Prominent eosinophilia was also present, and phenotypic aberrations in the granulocytic maturation were evident. There was no evidence of lymphoblastic infiltration either in morphology or in flow cytometry. Conventional cytogenetic analysis showed 10 metaphases with t(7;12)(q22;p13) as well as the addition of unknown genetic material to the short arm of chromosome 16 (Figure 2(a)). FISH studies using a dual color break-apart probe were positive for the ETV6 (12p13) rearrangement (Figure 2(b)). To further characterize these alterations, whole chromosome painting of chromosomes 7 and 12 was conducted (Figure 2(c)) and revealed a complex pattern of rearrangements involving chromosomes 7, 12, and 16: 46,XX,del(7)(q22),der(12)t(7;12)(q22;p13)t(12;16)(p13;p13),der(16)t(12;16).\nThe BM samples were also retested for PDGFRA, PDGFRB, and BCR-ABL rearrangements by FISH, with repeated negative results.\nA PET scan was repeated at this time point and showed only splenic caption (SUV 4.55). An abdominal ultrasound showed a heterogeneous splenomegaly without nodular lesions, suggesting a spleen infiltrative process.\nDespite the introduction of high dose of steroid therapy, there was a progressive increase of leukocytosis with 19% circulating myeloblasts, thrombocytopenia, and anemia, possibly reflecting progression to acute myeloid leukemia, although this finding was not confirmed by bone marrow evaluation. Cytoreduction with hydroxyurea was attempted with a slow but steady decrease in the leukocyte counts.\nEight days later, the patient developed sudden dyspnea with severe respiratory failure. Bilateral pulmonary infiltrates present on chest X-ray and high resolution pulmonary CT scan raised the hypothesis of an infectious process. In spite of antimicrobial therapy, the patient progressed to acute respiratory distress syndrome requiring invasive mechanical ventilation and eventually died in the ICU, about 4 weeks after the febrile episode and 6 months after the diagnosis of lymphoblastic lymphoma. Autopsy was not conducted, so the exact cause of death (infection/disease progression) was not determined.",
"gender": "Female"
}
] |
PMC3654631
|
[
{
"age": 65,
"case_id": "PMC8264843_01",
"case_text": "A 65-year-old male patient with history of keratoconus and penetrating keratoplasty (PK) over 30 years ago developed corneal oedema subsequent to the graft failure in his left eye with best corrected visual acuity (BCVA) of counting fingers. He had an eccentric 7.5 mm penetrating keratoplasty, which made repeat full thickness keratoplasty with a larger donor graft a high risk for rejection. He also had a mild cataract. Therefore, he was offered Descemet membrane endothelial keratoplasty (DMEK) on failed PK combined with cataract surgery using standard keratometry of 43.5D and a hydrophobic acrylic intraocular lens. After inserting the intraocular lens, while the anterior chamber was filled with a cohesive viscoelastic device, we performed a Descematorhexis within the graft-host junction. Care was taken not to expose posterior stromal strands during Descematorhexis. After a thorough washout of the viscoelastic device a 7.25 mm Descemet membrane graft was delivered and secured on the stroma within the old penetrating keratoplasty, using an intracameral injection of 50% Sodium Hexafluoride (SF6) gas. Cyclopentolate 1% eye drops were used immediately after the injection of gas to prevent pupillary block, since he has had no peripheral iridotomies. The patient was advised to comply with supine posture for a minimum of 2 days and was given antibiotic-steroid combination drops qds for a month, G. Cyclopentolate 1% tds for a week and Tb. Acetazolamide 250 mg sustained release for 3 days post-surgery. One week post-operatively the cornea appeared oedematous with inferior detachment of DMEK graft (Figure 1(a)). Re-bubbling with air was performed at the slit lamp via 5 o'clock paracentesis, the patient was started on Acetazolamide 250 mg slow release tablets for 3 days and advised to maintain a supine posture for a minimum of 2 days and ideally as long as the air was present in the anterior chamber. One week later, he was noticed to have persistent inferior graft detachment and corresponding corneal oedema (Figure 1(a)); therefore, the second re-bubbling was performed at the slit lamp in the same fashion. His cornea remained oedematous inferiorly at 4 weeks due to persistent inferior Descemet membrane detachment (Figure 1(a)) despite two subsequent re-bubblings. Careful inspection of his anterior segment OCT (AS-OCT) revealed a ridge on the posterior surface of the graft-host junction infero-nasally (Figure 1(a)), which was the probable cause of his recurrent inferior Descemet membrane detachment. To manage this complication, he underwent DMEK suturing in the theatre under subtenon anaesthesia. The detached graft was repositioned, using intracameral injection of air. Based on the extent of the DMEK detachment three radial full thickness 10-0 nylon interrupted sutures were placed in the inferior cornea to hold the graft in place. The needle passed through the host cornea and exited from the graft cornea. Care was taken not to tear the detached Descemet with unnecessary needle movement in the anterior chamber (Supplemental Video 1) (Figure 1(b)). One week post-operatively, his AS-OCT confirmed complete attachment of the DMEK graft with clear appearance of posterior protuberance (Figure 1(c)). Four weeks later, the corneal sutures were removed at the slit lamp and no further sutures were needed. Following this, his medications switched to G. Dexamethasone 0.1% qds for 2 months followed by bd for long-term. His corneal oedema resolved (Figure 2(a) and (b)) and his visual acuity gradually improved. Eight months from DMEK, his cornea was clear, and his unaided visual acuity was 20/63 with BCVA of 20/32 using rigid gas permeable contact lens (best spectacle corrected vision was 20/60 and best contact lens corrected vision was 20/32 before PK graft failure).\nThe patient provided written informed consent to publish all related medical data, images and videos.",
"gender": "Male"
}
] |
PMC8264843
|
[
{
"age": 60,
"case_id": "PMC3909696_01",
"case_text": "A 60-year-old man, known diabetic, was admitted in emergency for disorders of consciousness. The medical history with the family revealed a notion of diabetes for 1 year and transurethral resection of the prostate for 5 years. A disorder of micturition for one year with burning urination. The examination found a feverish patient (38 C), a tympanic globe bladder and a prostate estimated to be 30g.\nThe biological balance sheet revealed an infectious syndrome with renal insufficiency (creatininemia = 57 mg/dl, CRP = 322 mg/dl, urea = 2.22 g/dl and a hyperglycemia = 6g/dl). Abdominal X-ray without preparation shows the presence of air (sight) at the pelvic area (Figure 1). Ultra-sonography (US) of the bladder was realized but was not contributive. An abdominal pelvic computed tomography (CT) without injection of intravenous contrast showed a vesical globe containing air (Figure 2, Figure 3) and the presence of the sight at the level of the left pyelon (Figure 4) confirming the diagnosis of cystitis and pyelonephritis emphysematous.\nAfter a failure of urethral catheterization, the patient underwent a pubic catheterization returning gases and shady urines, drainage of the upper urinary tract was not done because of the lack of the expansion. Antibiotic treatment with ceftriaxone associated to metronidazole was started with an adapted insulotherapy. The bacterial culture of urines isolated an infection due to Escherichia coli. Apyrexy was obtained in 48 hours and a normalization of the renal function in 4 days. Urethrocystography retrograde micturition was realized after 3 weeks showing a stenosis of the urethra and the patient underwent an endoscopic uretrotomy.",
"gender": "Male"
}
] |
PMC3909696
|
[
{
"age": 55,
"case_id": "PMC5015792_01",
"case_text": "A 55-year-old man presented with acute visual loss in the left eye (LE). The patient denied other ocular or systemic symptoms. He was not taking any medications and his medical, social and family history was unremarkable. Visual acuity (VA) was 20/20 in the right eye (RE) and hand movements in the LE. Slit-lamp examination findings of the anterior segment were normal in both eyes (OU) and intra-ocular pressure was 12 mmHg bilaterally. Dilated fundoscopy of the LE revealed a few vitreous cells and a large yellow macular placoid lesion with a curvilinear edge (Figure 1A (Fig. 1)). Fluorescein angiography (FA) showed early hypofluorescence with late staining in the affected area (Figure 2 (Fig. 2)). Optical coherence tomography (OCT) in the LE demonstrated subretinal fluid overlying the macular lesion (Figure 3 (Fig. 3)). No abnormalities were detected in the RE. Screening blood tests, including syphilis serology, were requested and the patient was monitored without treatment.\nThree days after the placoid lesion had extended (Figure 1B (Fig. 1)). The patient did not follow our recommendation for serologic work-up and the tests were ordered again. One week after the initial presentation, VA remained stable but the placoid lesion had increased outside the temporal retinal vascular arcades (Figure 1C (Fig. 1)). New multiple yellow lesions and hemorrhages were observed in the retinal superior nasal area. Indocyanine green angiography (ICGA) revealed persistent leakage of the choriocapillaris and hypofluorescence areas in the early and late phases (Figure 4 (Fig. 4)). The patient continued not to follow our recommendation for the blood tests and they were ordered for the third time. He was informed again about his clinical situation and the importance of the work-up was underlined. \nThe patient abandoned the clinic for two weeks and when observed again, VA had improved to 20/20 in the LE and the lesions showed complete spontaneous resolution (Figure 1D (Fig. 1)). RE examination remained normal. Finally, we had access to the serologic tests results that revealed a positive VDRL (1/128) and FTA-ABS. HIV titers were negative. All other tests were normal. The diagnosis of acute syphilitic posterior placoid chorioretinitis in the LE was made. The patient was referred to the Infectious Disease Department. He had no other syphilitic manifestations and no abnormalities were detected after computed tomography of the cranium and orbits. A lumbar puncture revealed a positive VDRL and CSF-TPHA in the cerebrospinal fluid (CSF). The patient accepted to start treatment only 45 days after the initial presentation. During this period no relapse of the ocular lesions occurred and no systemic manifestation was observed. The patient was treated with intravenous aqueous penicillin G (four million units given every 4 h for 2 weeks). Three months after treatment, VA was 20/20 and fundoscopy remained normal both eyes. Follow-up serologic testing revealed a decrease of VDRL to 1/32.",
"gender": "Male"
}
] |
PMC5015792
|
[
{
"age": 53,
"case_id": "PMC6500649_01",
"case_text": "A 53-year-old female presented with gradually progressive diminution of vision in her left eye for 2 months. She had a history of diabetes mellitus for 20 years for which she is taking insulin. Her most recent HbA1C was 7.5%. She had no history of hypertension or renal problems. She had no past ocular history. Examination revealed a corrected distance visual acuity (CDVA) of 20/40 in her right eye and 20/100 in the left. Anterior segment examination showed nuclear sclerosis in both eyes. Posterior segment examination revealed intraretinal hemorrhages in all 4 quadrants indicating severe nonproliferative diabetic retinopathy in both eyes with clinically significant macular edema in the left eye confirmed by fluorescein angiography (Figure 1). Spectral domain optical coherence tomography (OCT) of the macula was done and revealed multiple cystic spaces, mild subfoveal neurosensory detachment, and diffuse retinal thickening with a central subfield macular thickness of 332 mum in the left eye (Figure 2(a)). The right eye showed only few cystic spaces with minimal thickening. OCTA (Optovue, Inc., Fremont, CA, USA) was done in both eyes and showed areas of capillary nonperfusion in the superficial capillary plexus (SCP) of the maculae of both eyes (Figures 3(a) and 3(e)). Three monthly intravitreal bevacizumab injections were done to treat the macular edema in the left eye. One month following the last intravitreal injection, CDVA improved to 20/60 in the left eye and was stable in the right eye. OCT showed improvement of the macular edema in the left eye (Figure 2(b)). OCTA was performed in both eyes and showed decreased vascular density of the SCP of the left eye compared to pretreatment OCTA while a mild increase was noted in the vascular density of the SCP of the untreated right eye (Figures 3(b) and 3(f)). The patient was then followed up without requiring further intravitreal injections and 4 months following the last intravitreal injection OCTA was repeated in both eyes and showed improvement of the vascular density of the SCP of the left eye with unchanged SCP in the right eye (Figures 3(c) and 3(g)). CDVA was 20/60 in the right eye and 20/100 in the left. Clinical examination revealed retinal neovascularization in the right eye with clinically significant macular edema in both eyes. OCT showed increased center-involving macular edema in both eyes with recurrent neurosensory detachment in the left eye (Figure 2(c)). Three monthly intravitreal bevacizumab injections were then done for treatment of proliferative diabetic retinopathy in the right eye and the macular edema in both eyes. One month following the last intravitreal injection, CDVA was 20/40 in the right eye and 20/60 in the left, OCT showed decreased macular thickness in both eyes (Figure 2(d)), and OCTA revealed decreased vascular density of the SCP of both eyes (Figures 3(d) and 3(h)). Changes in the deep capillary plexus closely followed those in the SCP at all stages.",
"gender": "Female"
}
] |
PMC6500649
|
[
{
"age": 60,
"case_id": "PMC5259666_01",
"case_text": "A 60-year-old woman had been aware of a mass in her left lower neck for 5 months. She underwent an open biopsy of the left neck by a previous physician. The findings of the histopathological examination indicated spindle cell sarcoma. On physical examination, an extremely soft mass was palpated in the left lower neck. Computed tomography (CT) scans (Figure 1(a)) revealed a 60 x 26 x 42 mm well-marginated soft tissue mass in the left lower anterior neck. The sternocleidomastoid muscle was markedly displaced anteriorly. The mass presented with heterogeneous enhancement and low-density areas, suggesting the presence of intralesional fat. On magnetic resonance imaging (MRI), the tumor exhibited soft tissue intensity with scattered high intensity that was suggestive of fat in T1-weighted images (WI) (Figure 1(b)) and T2WI (Figure 1(c)). In fat-suppressed gadolinium-enhanced T1WI (Figure 1(d)), the mass showed marked enhancement, and high-intensity areas were suppressed. On 18fluorodeoxyglucose positron emission tomography/CT (FDG-PET/CT) imaging, the maximum standard uptake volume in the tumor was 2.1. Histopathological examination of the previous open biopsy revealed spindle cells with epithelioid differentiation. On immunohistochemical examination, the spindle cells and epithelial cells were cytokeratin (CK) AE1/3 (+). The spindle cells were alpha-smooth muscle actin (alpha-SMA) (+), S100 (-), desmin (-), Bcl2 (+), and terminal deoxynucleotidyl transferase (TdT) (-). SS and spindle cell carcinoma were suspected.\nThe tumor was resected from the left neck under general anesthesia. The scar created by the previous open biopsy was also resected. The sternocleidomastoid muscle around the tumor was also resected. Resection progressed along the deep cervical fascia with attaching adipose tissue surrounding the tumor. A phrenic nerve running to the deep portions of the tumor was resected. The tumor was detached from the surrounding tissue. Intraoperative frozen section examination results indicated the presence of a spindle cell tumor.\nWe used frozen samples to assess SYT-SSX fusion gene expression by PCR. cDNA was prepared from total RNA extracted from the excised specimen. We used the SYT51 (5'-cagggaccacctccacaacag-3') and SSX124-31 (5'-cctctgctggcttcttgggc-3') primers, which recognize SSX1/2/4, to perform the 35-cycle PCR. The SYT-SSX fusion gene was not expressed, and thus SS was eliminated from the differential diagnosis. On histopathological examination of the resected tumor, the tumor consisted of plump to thin spindle cells growing in a bundle shape (Figure 2(a)), epithelial cells that formed anastomosing cords (Figure 2(b)), and epithelial islands with solid or microcystic extension areas. In addition, mature adipose cells (Figure 2(c)) and lymphocytes were observed between spindle cells and epithelial cells. Upon evaluation of the overall lesion, we diagnosed the tumor as EHT. The patient has had no recurrence for 56 months after surgery. The patient provided written informed consent for all medical procedures and for the publication of this case report.",
"gender": "Female"
},
{
"age": 24,
"case_id": "PMC5259666_02",
"case_text": "A 24-year-old woman had been aware of a lower left neck swelling for several days. She underwent an open biopsy of the left neck by a previous physician. The histopathological examination suggested SS. The previous physician planned to perform surgery after chemotherapy or chemoradiotherapy. The patient was referred to our department to obtain more detailed examinations before surgery. On physical examination, a soft mass was palpated in the lower left neck. CT scans (Figure 3(a)) revealed a 42 x 35 x 48 mm well-circumscribed mass with nonhomogeneous enhancement between the sternocleidomastoid muscle and internal jugular vein. The mass had low signal intensity similar to muscle on T1WI (Figure 3(b)) and higher intensity than muscle on T2WI (Figure 3(c)). Densities and intensities resembling those of intralesional and marginal fat were observed. On FDG-PET/CT, there was no accumulation in the tumor. Upon histopathological examination of the open biopsy performed by the previous physician, the tumor consisted of comparatively even spindle cells and adipose-like cells. According to the immunohistochemical examination, the spindle cells were CK AE1/3 (+), alpha-SMA (+), S100 (-), desmin (-), Bcl2 (+), and TdT (-). The tumor was suspected of being SS. We used the Vysis SS18 Break-Apart FISH Probe Kit (Abbott Laboratories, Abbott Park, Illinois, USA). The gene was not disrupted in the sample, and SS was excluded from the differential diagnosis.\nOn the basis of the findings in Case 1, we suspected EHT, but a definitive diagnosis could not be obtained from the biopsy. Tumor resection from the left neck was performed under general anesthesia. The scar created by the previous open biopsy was also resected. Part of the sternocleidomastoid muscle between the skin scar and the tumor was also resected. The tumor (Figure 3(d)) was encapsulated with a smooth surface, and there was no adhesion to the surroundings. The surrounding organs were preserved, aside from the partial resection of the sternocleidomastoid muscle between the tumor and the scar, which was performed because the possibility of malignancy could not be excluded.\nOn intraoperative frozen section examination, spindle cells with no pleomorphism and adipose tissue were seen inside the lesion. Necrosis and mitotic figures were absent. These findings were compatible with a diagnosis of EHT. On histopathological examination of the resected tumor, the tumor consisted of plump to thin spindle cells growing in a bundle shape (Figure 4(a)) and adipose cells (Figure 4(b)). Based on immunohistochemical examination and fusion gene examination, we diagnosed the tumor as EHT. The patient has had no recurrence for 29 months after surgery. The patient provided written informed consent for all medical procedures and for the publication of this case report.",
"gender": "Female"
}
] |
PMC5259666
|
[
{
"age": 62,
"case_id": "PMC10035883_01",
"case_text": "A 62-year-old man was admitted for treatment of progressive limb weakness over 4 months. He suddenly felt weakness in the right lower limb during farming over 4 months ago, accompanied by pain and cramps in the calf. He received treatment in the community for 4 days, and the above symptoms disappeared. One week after the initial onset of the weakness, the patient began to have left-sided angle of mouth, salivation, chewing difficulties, difficulty in closing the right eye, slurred speech, transient diplopia, ataxia, weakened tendon reflex of the right limb, and the MRC grade of the right limb muscle was 4 (Table 1), with CT examination showing low-density lesions in the bilateral basal ganglia area. The patient's symptoms progressed after antithrombotic treatment, with recurrence of transient diplopia. He was discharged after 2 weeks of hospitalization. At 9 weeks after the initial onset, after suffering from upper respiratory tract infection, pain occurred in the lower parts of both lower limbs, and the distal knuckles and toes of both lower limbs continued to have numbness. The distal numbness of the limbs gradually spread to the proximal end, accompanied by weakness of both feet, followed by weakness of the limbs, mainly the distal limbs. At 13 weeks after initial onset, he had difficulty in passing stool and needed enema to help, and 15 weeks after initial onset, he had difficulty in passing urine. He was in good health in the past and had a history of COVID-19 vaccination 10 days before the onset of symptoms. He did not have a family history of genetic disease or history of exposure to poisons.\nUpon admission, the following were observed: normal cognitive function, the speech was unclear, bilateral forehead lines disappeared, could not wrinkle forehead, bilateral eye closure was weak and right side was obvious, the right nasolabial groove was shallow, the bilateral drum gills were weak, the strength of the right side teeth was weak, the angle of mouth was left, the tongue body was thin, the tongue muscle strength was weak, with right tongue muscle tremor. The masticatory muscle was slightly weak, the pharyngeal reflex disappeared, shoulder shrug and neck were powerful, the neck flexion was weak. Limb muscle strength (MRC) grades: proximal left upper limb: V, distal: II+; left lower limb proximal extensor: IV+, flexor: III, distal: II; proximal right upper limb: V, distal: II+; proximal extensor of right lower limb: IV-, flexor: II+, distal: 0. The muscle tension of both lower limbs decreased, the tendon reflex and abdominal wall reflex of the limbs disappeared. The ataxia of both upper limbs was unstable and both lower limbs cannot be completed. Stocking glove hypoesthesia was observed for vibratory and cold stimuli.\nUpon auxiliary examination, the following were observed: blood test examination: blood routine, blood coagulation routine; blood glucose, liver and kidney function, thyroid function, tumor markers, serum protein electrophoresis, and vitamin B12 were not significantly abnormal. Cerebrospinal fluid (CSF) protein level: 618.91 mg/dL (normal value 15-45 mg/dL), white blood cell count: 6/muL (normal value 0-8/muL). The neuroelectrophysiology is shown in Table 2. An MRI of the cervical plexus is shown in Figure 1A, an MRI of the lumbosacral plexus in Figure 1B, and musculoskeletal ultrasounds are shown in Figure 2.\nThe diagnosis upon admission was as follows: acute inflammatory demyelinating polyradiculoneuropathy (AIDP)?/ACIDP?/Autoimmune nodopathies? After IVIG treatment, the limb weakness of the patients improved. Blood antibody report: anti-CNTN1 antibody IgG4 positive 1:100, CSF corresponding antibody 1:32. Diagnosis: Autoimmune nodopathies. The treatment was 500 mg methylprednisolone intravenous shock therapy and hormone reduction 5 days after surgery with 48 mg methylprednisolone orally administered. The patient's fatigue symptoms gradually improved, but he was still unable to walk, and improvement of numbness was not obvious.\nAfter discharge, the patient's condition was stable and he was readmitted to the hospital for rituximab treatment because of his inability to walk. Upon follow-up 1 year after onset of disease, he was able to walk normally and felt numbness only in the fingertips. The changes in muscle strength during the three admissions are shown in Table 3. EMG comparisons for the three admissions are shown in Table 2.",
"gender": "Male"
}
] |
PMC10035883
|
[
{
"age": 68,
"case_id": "PMC8329363_01",
"case_text": "A 68-year-old Chinese man complained of gradual visual loss that occurred in both eyes over a period longer than 9 months. Approximately 6 months before he came to our clinic, he underwent a subtotal pneumonectomy to treat a pulmonary tumor, for which the pathological diagnosis was benign. Two months before he came to our clinic, assessments at another medical center revealed increased intraocular pressure (IOP) (around 30 mmHg in both eyes), a whole circle thickened ciliary body according to ultrasonic biomicroscopy (UBM), and decreased anterior chamber depth. He was able to count fingers in an assessment of best corrected visual acuity (BCVA) for both eyes. The IOP was 19 mmHg for the right eye and 20 mmHg for the left eye. A slit-lamp examination of the anterior segment of the eyes showed obviously tortuous and dilated episcleral vessels (Supplementary Figure 1), significantly decreased depth of anterior chamber, iris bombe, slight eversion of iris pigment at the pupillary margin and prominent cortical opacity of the lens (Figure 1). There were no signs of synechia, neovascular membranes in the iris, or active inflammation (Figure 1). Open angles with pigmentation within the trabecular meshwork were revealed by gonioscopy. Color fundus retinal photography revealed typical exudative retinal detachment in both eyes (Figure 1), accompanied by naevus-like multifocal reddish patches under RPE in the superior part of the fundus. Ocular coherence tomography (OCT) showed exudative retinal detachment of the macula with multiple hyperreflective elevated lesions under RPE. Lensectomy, peripheral iridectomy, diagnostic pars plana vitrectomy (PPV), and silicon oil tamponade were performed on the right eye to deepen the anterior chamber, restore the transparency of the refractive media, reattach the retina, and take a choroid sample for biopsy. Vitreous fluid and subretinal fluid were collected during the surgery, but immunological analyses revealed no specific positive results. Haematoxylin-eosin (HE) staining for biopsies from the choroid suggested predominantly spindle-shaped melanocytic cell masses, while immunohistochemistry showed that the samples were positive for antibodies against S-100, and negative for antibodies against Ki67, LCA, PAX-5, and SOX-10 (Figure 2). The histopathological examination showed that the choroid lesion was a benign proliferation of melanocytes.\nOne month after surgery in the right eye, the patient underwent surgery in the left eye. This had a similar procedure but no biopsy, and subretinal fluid was drained through the sclera. At a 1-week follow-up assessment, the BCVA of the patient had recovered to 20/100 for the right eye and 20/80 for the left eye, and the IOP was 21 mmHg for both eyes. The depth of the anterior chamber had increased and the iris bombe had disappeared (Figure 3). The retina was basically reattached with only a small amount of subretinal fluid. A mass of multifocal reddish patches (Figure 3) was found all around the retina, especially in the mid-peripheral sections. These patches were consistent with the elevated hyper-reflective mass under RPE (Figure 3) in the OCT data, and also with the hyperfluorescence in the autofluorescence images and hypofluorescence in the early FA data.\nA small amount of subretinal fluid persisted during the early postoperative follow-up period, and this was accompanied by thickening of the choroid. Three months after the operation, the patient underwent a rectectomy to treat a rectal tumor, and postoperative pathology revealed a rectal adenocarcinoma. Six months after the rectectomy, the subretinal fluid had completely disappeared and the thickness of the ciliary body and choroid had significantly decreased (Figure 4). The BCVA had improved to 20/60 for both eyes at the last follow-up.",
"gender": "Male"
}
] |
PMC8329363
|
[
{
"age": 10,
"case_id": "PMC9626241_01",
"case_text": "The patient was a 10-year-old girl at the time of her visit to the Department of Genetic Medicine, King Saud Medical City, Riyadh. She is the first child of the first healthy Saudi cousin. She was born at full term of pregnancy via spontaneous vaginal delivery. The family history was unremarkable, and the other four siblings were healthy, with a history of one abortion. She had early motor development delay (sat at 2 years and walked at 3 years), speech delay, and subnormal mentality. Skeletal changes with a waddling gait, difficulty rising after sitting down. During the clinical examination, she had good eye contact, obeyed simple commands, and could pronounce a few unclear words. She could walk with assistance. Stairs are difficult. She looks like a dysmorphic triangular face with a prominent check, a forehead, retromicrognathia, large ears, and skeletal deformities with mild pectus carinatum, short and broad hands with brachydactyly, kyphosis, knock knees, valgus tibial bowing, and pes cavus foot (Figures 1(a)-1(d)), and her height was 102 cm (2.9 SDs), weight was 16 kg, and head circumference was 48 cm below the third percentile. The radiological findings (Figures 2(a)-2(d)) coincided with the clinical findings. The radiological analysis revealed diffuse osteopenia. Tubular bones are short. Metaphyseal sclerosis and irregularities are more pronounced in the lower limbs. Right humerus bowing deformity; small, fragmented, and sclerotic femoral heads; right hip dislocation with external rotation of the right lower limb; bilateral coxa varus; and left genu valgus bowing deformity of the left tibia were identified. Metacarpals and metatarsals are short. The echocardiogram and abdominal ultrasound were unremarkable. She had an intellectual disability (IQ = 60) and lived alone. No corneal cataract, hearing deficit, or involvement of other systems was identified.\nInvestigations included complete blood count; coagulation profile; GAG (glycosaminoglycans) in the urine, urea, and electrolytes; thyroid function tests; parathyroid hormone; serum calcium; phosphorus; and alkaline phosphatase.\nMagnesium, vitamin D, and liver enzymes were normal. Unremarkable Tandom MS was found, and urine organic acid analysis was performed. Lysosomal enzyme activities were analyzed and showed elevated enzyme activity levels for alpha-glucosidase, beta-glucuronidase, beta-mannosidase, alpha-mannosidase, and beta-hexosaminidase.\nWeS was performed on the proband and her parents utilizing genomic DNA extract from blood. Genomic DNA is enzymatically fragmented, and target regions are enriched using DNA capture probes. These regions include approximately 41 Mb of the human coding exome (targeting >98% of the coding RefSeq from the human genome build GRCh37/hg19), as well as the mitochondrial genome. The generated library is sequenced on an Illumina platform to obtain at least 20x coverage depth for >98% of the targeted bases. An in-house bioinformatics pipeline, including read alignment to the GRCh37/hg19 genome assembly and revised Cambridge Reference Sequence (rCRS) of the Human Mitochondrial DNA (NC_012920), variant calling, annotation, and comprehensive variant filtering, is applied. All variants with a minor allele frequency (MAF) of less than 1% in the gnomAD database, as well as disease-causing variants reported in HGMD , ClinVar, or CentoMD are considered. The investigation for relevant variants is focused on coding exons and flanking +-10 intronic nucleotides of genes with clear gene-phenotype evidence (based on OMIM information). All potential patterns for the mode of inheritance are considered. In addition, provided family history and clinical information are used to evaluate identified variants with respect to their pathogenicity and causality. Variants are categorized into five classes (pathogenic, likely pathogenic, VUS, likely benign, and benign) according to ACMG guidelines for classification of variants. All relevant variants related to the phenotype of the patient are reported. CENTOGENE has established stringent quality criteria and validation processes for variants detected by NGS. Variants with low quality and/or unclear zygosity are confirmed by orthogonal methods. Consequently, a specificity of >99.9% for all reported variants is warranted. Mitochondrial variants are reported to have heteroplasmy levels of 15% or higher.\nThe copy number variation (CNV) detection software has a sensitivity of more than 95% for all homozygous/hemizygous and mitochondrial deletions, as well as heterozygous deletions/duplications and homozygous/hemizygous duplications spanning at least three consecutive exons. For uniparental disomy (UPD) screening, a specific algorithm is used to assess the well-known clinically relevant chromosomal regions (6q24, 7, 11p15.5, 14q32, 15q11q13, 20q13, and 20).\nThe patient's entire exome sequence was discovered to be a homozygous (c.2634C > A) p. (Ser878Arg) variant of the MBTPS1 gene (Figure 3). An amino acid change from Ser to Arg at position 878. It is classified as a variant of uncertain significance (class 3) according to the recommendations of CENTOGENE and ACMG, and further Sanger sequencing indicated that the parents carried a single heterozygous mutation each. The missense c.2634C > A variant in the MBTPS1 gene has not been previously reported in clinical cases and was classified as a Variant of Uncertain Significance (class 3) according to the CENTOGENE and ACMG. The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is caused by a homozygous mutation in the MBTPS1 gene. The autosomal recessive Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is consistent with the genetic diagnosis of the autosomal recessive Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF). Variable clinical phenotypes include short stature, developmental delay, eye abnormalities, and skeletal dysplasia. We are aware of the paper published by Kondo et al.. They report cases of MBTPS1 variants identified by compound heterozygosity for mutations in the MBTPS1 gene: a 1-bp duplication and a missense mutation. The gene variant mentioned here has never been described in the literature before.",
"gender": "Female"
}
] |
PMC9626241
|
[
{
"age": 20,
"case_id": "PMC7369465_01",
"case_text": "We present the clinical case of patient M.S. 20 years old, with MEN 2A syndrome, which has been manifested by bilateral pheochromocytoma and medullary thyroid carcinoma.\nIn 2015, after a check-up, suspicion of an adrenal gland tumor was raised. The patient presented the following symptoms: hypertension with often crises, episodic headaches, palpitations, irritability, sweating, pallor.\nThe diagnosis was confirmed by biochemical tests (increased plasma and urinary metanephrines levels) and MRI, where an ovoid tumor (46 x 37 x 43 mm with regular contour, homogeneous structure) has been visualized.\nAccording to the patient, her mother suffered from hypertension, episodic headache and palpitations during pregnancy. The diagnosis of eclampsia has been established. During birth she had a hypertonic crisis again and died within hours of the birth of profuse uterine bleeding. Necropsy revealed adrenal tumor on her left and histopathological examination confirmed multicentric, predominantly alveolar pheochromocytoma.\nIn 2015 our patient underwent laparoscopic adrenalectomy on her left. Histopathological examination revealed multicentric, predominantly alveolar pheochromocytoma.\nDuring the years 2015-2018, after the intervention, her well-being improved, with hypertonic crises only once a month. In July 2018 more intense, frequent hypertensive crises appeared with characteristic signs.\nThus, on 11.07.2018 a CT of the abdomen was performed, where a tumor (27 x 32 mm) of the right adrenal has been detected (benign origin according to the character of contrasting).\n15.12.2018 PET-CT: Increased metabolic activity of FDG (mean SUV = 11.5) at the level of a tumor of the right adrenal gland (36 x 29 mm), possibly pheochromocytoma increased diffuse accumulation of radiopharmaceutical in the bone marrow, more evident in the thoracic segment of the spine and pelvic bones (Fig. 1).\nAll laboratory tests for the years 2014-2020 are presented in Table 1.\nIn April 2019, the patient underwent laparoscopic total adrenalectomy on the right. This intervention was done by head surgeon with thirty years' experience. Macroscopic examination revealed multinodular solid adrenal tumor, the biggest nodule being 41 x 32 mm. Histopathological examination described multicentric, predominantly alveolar pheochromocytoma (Fig. 2A, B).\nIn February 2020, the patient is hospitalized for scheduled total thyroidectomy, showing symptoms of a permanent lump in the throat, difficulty swallowing, feeling of suffocation in a supine position, general weakness, fatigue.\nTotal thyroidectomy is the recommended treatment for all medullary thyroid carcinoma in MEN 2A syndrome, confirmed by elevated calcitonin levels and imaging data.\nUSG of the thyroid gland 11.12.2014: right lobe - 19 x 12 x 32 mm, left lobe - 19 x 12 x 36 mm. Isthmus 3,3 mm, heterogeneous nodules 3 x 4 mm and 7 x 4 mm.\nUSG of the thyroid gland 15.01.2020: right lobe - 14 x 14 x 31 mm, one heterogeneous node 7 mm with multiple calcinates, left lobe - 13 x 14 x 29 mm one heterogeneous node 8 x 6 mm with single calcined and irregular borders, pronounced peri- and intranodular vascularity), isthmus - 0.3 cm (Fig. 3).\nCT of the thyroid gland with contrast 11.21.2018: areas with nodular lesions in both thyroid lobes with dimensions of 5 mm on the right and 12 x 9 mm on the left.\nTotal thyroidectomy was performed, macroscopic examination revealed multinodular thyroid gland with dimensions 8 x 3 cm (Fig. 4). This intervention was done by head surgeon with twenty years' experience. Given that regional lymphadenopathy was determined neither preoperatively nor intraoperatively, and thyroid gland with small nodules without invasion into a capsule, it was decided not to perform neck lymph nodes dissection.\nHistopathological examination of the thyroid tissue revealed non-encapsulated medullary carcinoma with trabecular pattern, amyloidosis of the tumor stroma, low degree of pleomorphism and minimal mitotic activity, without LVI-0 and 0 lymphovascular invasion, surgical resection margins negative to tumor (R0), no invasion into thyroid capsule, pT1aNxMx LVI-0 Pn-0 R0. Histochemical investigation with Congo red for detecting amyloid deposits in the tumor stroma was positive (Fig. 5A, B).\nThe postoperative evolution of this patient is favorable. She is satisfied with the received treatment and is being supervised by an endocrinologist, undergoing hormone replacement therapy. Currently the patient receives 25 mg of cortisone in the morning and the fourth part at noon, prednisolone tablets 2.5 mg in the morning, under the monitoring of the arterial pressure, and L-thyroxin tablets 50 mg.\nRecent laboratory tests (25.05.20): PTH - 19,3 pg/mL, calcitonin - 18,7 pg/mL, TSH- 0,2ul/mL, ionic calcium - 1,09 mmol/l. The decrease in calcitonin from 121 to 18.7 pg/mL reflects the effectiveness and radicality of the surgical treatment applied.",
"gender": "Female"
}
] |
PMC7369465
|
[
{
"age": 56,
"case_id": "PMC5356200_01",
"case_text": "A 56-year-old man initially presented for evaluation of iron deficiency anemia. Further evaluation with esophagogastroduodenoscopy (EGD) and colonoscopy revealed a large, benign-appearing mass in the duodenum (Figure 1). Subsequent endoscopic ultrasound (EUS) revealed a 3 x 4-cm subepithelial mass arising from the submucosa with numerous cystic spaces and mixed echogenicity (Figure 2).\nTransduodenal resection per hepatobiliary surgery revealed a 3 x 12-cm polyp (Figure 3). Surgical evaluation also revealed ulcerations of the mucosa surrounding the polyp, which were thought to be the cause of his iron deficiency anemia. Pathology revealed Brunner's gland hyperplasia with secondary polyp formation that extended to the margin. The interface between normal small intestine and the polyp was visible. Both showed an intact unremarkable mucosal surface without inflammation. The transition from small nests of Brunner's glands and other submucosal elements to a multinodular proliferation composed entirely of closely spaced Brunner's glands was also noted (Figure 4). On follow-up one month after resection, the patient's hemoglobin level normalized and he no longer required iron supplementation.\nWhile Brunner's gland hamartomas are rare, with an incidence of 0.008%, they also account for 5-10% of all benign duodenal tumors. These lesions usually present in the fifth or sixth decade of life and have low malignant potential. Brunner's gland hamartomas are usually 1-3 cm in size, so our case was unusual with a large 12-cm Brunner's gland, which was successfully removed by means of transduodenal resection. Interestingly, although the patient's gastric biopsies did not show evidence of Helicobacter pylori, there has been an association of Brunner's gland hamartomas with concurrent H. pylori infections. In one study, dysplastic changes were noted in 2.1% of cases, with only 0.3% of those being invasive carcinoma. Treatment for Brunner's gland hamartomas is usually conservative in asymptomatic patients, while surgical or endoscopic resection is indicated for symptomatic patients.",
"gender": "Male"
}
] |
PMC5356200
|
[
{
"age": 73,
"case_id": "PMC3358721_01",
"case_text": "The 73 year old female patient was admitted to our orthopaedic department on the basis of intermittent pain in her left lower limb. She reported of gait disturbance, weakness and recurring sciatica in the left lower limb since about 24 hours. At the time of her hospitalisation, she wasn`t able to walk anymore.\nIntermittent pain in the left leg with incomplete paresis and paresthesia since 24 hours. The onset of symptoms was spontaneous; there was no history of trauma. No history of lumbago, no fever or weight loss. The symptoms were reported for the first time. The current medication comprised antihypertensive drugs, diuretics and an anticoagulans (cumarine). The patient reported a biologic aortal valve implantation from 6 months ago and an atrial fibrillation as a reason for the anticoagulation.\nOn physical examination, we had an adipose female patient with a height of 165cm and weight of 95kg (BMI= 34.9). The mental status was normal. During the examination, the patient was asked to stand up for the purpose of inspection. While trying to get into a prone position, the patient lost control of her left lower limb. At this moment she also suffered urine incontinence the first time. Further examination presented an incomplete paraplegia of the lower limb, while the right limb had a normal motor and sensible function. On the left side, there was a loss of power for the hip flexion, knee extension and foot elevation, varying from 4/5 MRC (medical research council) grade to full plegia (Asia Impairment Scale AIS D to AIS C) and inability to move the limb during a second examination, which was performed 15 minutes later in the radiology department by the same examiner. Lasegue and Bragard sign was positive on the left side. Babinski sign was bilaterally negative. There was no saddle block anaesthesia present and the anal sphincter tonus was normal. Peripheral pulse status was also normal. Crural varicosis was inspected, but there was no change in limb circumference, color, temperature, pain on palpation of the calves nor near the great saphenous vein.\nThere was no tenderness on the examination of the spine. Abdomen was smooth and also presented no tenderness to palpation.\nDuring the radiographic examination (changing position), the patient presented a rapid worsening of the paresis, not being able to move the affected limb. Because of undulating neurologic deficits in the lower limb, the patient was admitted to cranial computer tomography and magnetic resonance tomography examination of the spine.",
"gender": "Female"
}
] |
PMC3358721
|
[
{
"age": null,
"case_id": "PMC6803738_01",
"case_text": "A male Italian patient of 66 years presented with a history of kidney transplantation in treatment with cyclosporine, intestinal resection for lymphoma, and arterial hypertension and heart failure; in July 2018, he visited an ENT clinic and was diagnosed as chronic left purulent otitis media and began at-home antibiotic therapy with poor benefit. On 13/09, he was admitted to the hospital \"S. Maria\" of Terni for persistence of left ear pain and complete hearing loss in the absence of fever or other symptoms. A computerized tomography (CT) of the left ear without contrast medium documented \"thickening of the walls of the external auditive canal, marked thickening of the tympanic membrane, and the ossicular chain conglobated by inflammatory material\" (Figure 1).\nThereafter, antibiotic therapy with ertapenem was administered once daily in the day-ospital regimen, and it continued for eight days with no benefit because of persistent pain and hearing loss of the left ear. The blood exams showed nonsignificant values of C-reactive protein and white blood cells (WBC) because the patient took immunosuppressive therapy. Then, on 28/09, the patient was hospitalized at our department, and a brain MRI without and with contrast medium showed \"in correspondence of the petrous rock and the mastoid on the left, a nonhomogeneous hyperintensity in the long TR sequences, compatible with the presence of flogistic tissue\" (Figure 2).\nDuring admission, he was initially treated with empiric intravenous antibiotic therapy with imipenem 500 mg/8 h and linezolid 600 mg/12 h. Blood and urine cultures were negative. Auricular swabs and later surgical drainage of the purulent material present in the left ear were performed and both were positive for XDR Pseudomonas aeruginosa, sensitive only to colistin in absence of synergism with rifampicin. On the isolated strain, E- test was performed for ceftolozane-tazobactam and ceftazidime-avibactam with MIC 8 and 2, respectively (Figure 3). \nThe blood cultures were negative for Pseudomonas aeruginosa. From 17/10 to 02/11, the day of discharge, the patient underwent antibiotic therapy with ceftolozane-tazobactam at a dosage of 0.75 g/8 h for the first 4 days and, after abundant hydration and improvement in renal functionality at the dosage of 1.5 g/8 h. The patient presented a progressive clinical improvement with the disappearance of the ear pain and slow resumption of auditory function. The CT scan of the ear without contrast, performed on 10/29/2018, confirmed a \"significant reduction of inflammatory material occupying the middle ear and reduction of thickening of the tissues of the external auditive canal.\" (Figure 4).",
"gender": "Male"
}
] |
PMC6803738
|
[
{
"age": 18,
"case_id": "PMC7399133_01",
"case_text": "We retrospectively reviewed the medical records of patients diagnosed with CJD between March 2018 and December 2019 at Xiangya Hospital and the Second Xiangya Hospital of Central South University. Only patients aged 18-90 years with CJD who met the proposed diagnostic criteria were included. The information collected and analyzed from patients included: sex, age at onset of CJD, age of death, disease duration, symptoms at onset, and examination findings.\nThe clinical features of the patients are summarized in Table 1. Ages at onset of CJD ranged from 60 to 66 years (mean age was 61.75 years), and the group included two women and two men. They did not have any history of contacting a source of infection or related CJD family history. All patients experienced characteristics of a progressive dementia within <2 years; for example, patients 1, 3, and 4 did not recognize their family members and could not recall their home address. Moreover, all patients had myoclonus, ataxia, and extrapyramidal or pyramidal signs during disease progression, and either visual disturbances or akinetic mutism developed in the other two patients. All patients were admitted to hospital with obvious symptoms of dementia.\nAfter admission, cerebral CT as well as T1- and T2-weighted cerebral MRI were performed in all patients, and no apparent abnormalities were identified. Lumbar puncture was also performed, and there were no positive results in the routine laboratory tests, biochemical indicators, complete viral testing, histologic staining, oligoclonal bands (OB) testing, or autoimmune encephalitis antibodies in CSF. However, abnormal high signal in two or more cerebral cortex regions, referred to as \"cortical ribboning\" (Figure 1), and/or the basal ganglia, was incidentally found in the DWI of all four patients, which alerted physicians to suspect a diagnosis of CJD. These patients were all subsequently recommended to undergo the following tests: DWI, EEG, and laboratory CSF analysis; two of them also underwent a brain biopsy. Testing performed by China DCD (Center for Disease Control and Prevention) for CSF 14-3-3 protein were positive in all patients. However, tests for other CSF biomarkers such as total tau protein, S100B, neuronal specific enolase and amyloid-beta (Abeta)1-42 were not performed because these assays were not widely used in Chinese hospitals at the time. Patients 1 and 3 had characteristic period sharp wave complexes (PSWCs; Figure 2) recorded by EEG. And atypical little sharp waves, instead of PSWCs, were identified in the EEG trace of patient 4. Additionally, upon consideration of the risk of brain surgery, only two patients (#1 and #4) underwent a brain biopsy, which in both cased demonstrated prominent spongiform changes and neuronal loss in the gray matter of the brain. PrPSc protein was also detected in the living brain tissue by western blotting. Moreover, prion protein (PRNP) genetic testing in the four patients did not reveal any pathogenic mutation. In light of the typical clinical features, the presence of \"cortical ribboning\" on DWI, 14-3-3 protein in CSF, PSWCs on the EEG, and the results of brain biopsy, all four patients were diagnosed with sCJD; two (#1, #4) were confirmed cases and the other two (#2, #3) were probable cases. There were no specific treatments available for CJD. The average time interval between the onset of CJD symptoms and death ranged from 4 to 12 months (average: 7.5 months).",
"gender": "Unknown"
}
] |
PMC7399133
|
[
{
"age": null,
"case_id": "PMC8804283_01",
"case_text": "Cox's Bazar, in Bangladesh, comprises a large refugee population spread across 34 highly congested subcamps along the Bangladesh/Myanmar border. The international response coordination in Cox's Bazar is managed under a situation specific mechanism led by a Strategic Executive Group at the national level and through the Inter Sector Coordination Group (ISCG) in Cox's Bazar. The ISCG comprised ten sectors and six inter sector working groups that provide humanitarian assistance to close to 900,000 Rohingya refugees. The WHO Emergency Sub-office in Cox's Bazar, in collaboration the district level health administration, chairs the Health Sector of the ISCG.\nGuided by the WHO Emergency Response Framework, WHO Bangladesh established an incident management system soon after the largest influx of refugees from Myanmar in 2017 that effectively managed many outbreaks and natural disasters prior to COVID-19. Both the WHO incident management system and the ISCG were leveraged for COVID-19, highlighting the benefit of having existing mechanisms using a whole-of society response for emergencies. The COVID-19 response was also extended to the entire population of Cox's Bazar district.\nPrior to the first COVID-19 cases in the district, a COVID-19 response plan was developed that outlined key activities across 11 identified thematic pillars of the national COVID-19 response plan. A dedicated COVID-19 related Crisis Management Team for Cox's Bazar was established, initially comprised of the UN Resident Coordinator and Heads of Agencies of WHO, International Organization for Migration (IOM), UN High Commissioner for Refugees (UNHCR), UNICEF, and WFP as well as the Head of Sub-office of WHO and the senior coordinator of ISCG. This forum enabled frequent and direct interagency decision making and was a key facilitator of operational decision-making between the field and national decision makers.\nThe response to COVID-19 in Cox's Bazar provides many examples of how WHO supported whole-of-society COVID-19 activities. World Health Organization provided technical updates to the Heads of UN agencies and the ISCG, and between UN agencies, local community groups, donors/partners, and embassies to facilitate decision making, allocate resources, and mobilize funds. In collaboration with the technical working groups, the health sector developed an orientation package and online awareness training sessions for healthcare workers to ensure mainstreaming of cross-cutting themes including gender, protection from sexual exploitation and abuse, gender-based violence, protection, and child protection in the response. Prior to the reopening of the destination for domestic tourism, in collaboration with local government, WHO provided technical advice, training, and information materials on operating safely within the COVID-19 context to various sectors, including the tourism, agriculture, and livelihood sectors.\nOne unique example of the role of WHO in the whole-of-society response to COVID-19 in Cox's Bazar was the provision of technical advice and coordination for repurposing Rohingya volunteers involved in garment manufacturing and tailoring as livelihoods activities to produce cloth face masks. World Health Organization's role in this initiative was to provide the specifications for the fabric masks, the quality standards for local production, and in collaboration with the livelihood sector partners including UNHCR, IOM, and WFP, the government counterparts including the district's Civil Surgeon and regulatory authority, support the system for UN agencies that normally work with the production sector. More than one million masks were made and distributed in the camps and nearby community. This initiative contributed to the health response and improved the refugees' micro economy.\nRestriction to the camps was another challenge for the whole-of-society response as many volunteers from non-health sectors such as protection, education, and nutrition were unable to continue their work. To overcome this challenge, WHO utilized these volunteer networks in partnership with the other UN agencies for health activities, which also enabled their usual volunteer roles. The volunteers contributed to the community surveillance system established prior to COVID-19, referred cases for testing and treatment, assisted with vaccination programs, and provided the backbone of RCCE. With partners, WHO provided training for 3,600 humanitarian workers and over 2,000 volunteers involved in the COVID-19 response on how to protect themselves from COVID-19 while working. By June 2020, every household was visited once a week by these community volunteers.\nThe training provided to the volunteer networks enabled RCCE efforts as the volunteers disseminated these messages whilst completing their usual work. This intersectoral involvement in RCCE successfully alleviated the infodemic within the camp, as evidenced by improved outpatient attendance and health seeking behavior of the population. The RCCE feedback loop was also supported by WHO, as it enabled structured feedback to the government, UN agencies, and non-government partners at national and local level to improve the response. In collaboration with partners, messages were also delivered by WHO staff through weekly audio podcast program on local radios.\nUzbekistan is a middle-income country in central Asia that has a UN interagency presence with a UNCT that comprises 24 UN agencies. World Health Organization works closely with the Ministry of Health (MOH), and prior to COVID-19, established Health Development Partnership meetings to facilitate communication between the UNCT, non-UN development partners, and the government.\nA UN Crisis Management Team for COVID-19 was established and was co-chaired by WHO. The Crisis Management Team operated according to the national SPRP and the UN framework for the socio-economic response to COVID-19 in Uzbekistan. World Health Organization led the SPRP, contributed to the combined UN/WHO sitreps, was a co-chair of most COVID-19 related meetings, and a vital part of the UN decision making process. This further increase the visibility and added value of WHO within the UN system in Uzbekistan.\nThere were six COVID-19 taskforces led by the UN and the government: capacity building, procurement, human rights and vulnerable groups, economic and social impact, education, and risk communication. World Health Organization led the capacity building taskforce and had a presence in all others. By MOH request, WHO was the liaison between the MOH and other UN agencies and the conduit between the COVID-19 taskforces. The Health Development Partnership meetings continued as the intersectoral communication and collaboration mechanism between the UN, non-UN partners, and government. World Health Organization presented technical information to each taskforce as needed and reviewed taskforce documents prior to distribution to the government:a \"translator.\" The COVID-19 response cemented that intersectoral collaboration is crucial for advancing the health agenda with WHO as a key contributor.\nOne example of WHO working across the whole-of-society response in Uzbekistan was in the education taskforce. Working closely with UNICEF and the UN Educational, Scientific, and Cultural Organization (UNESCO), WHO contributed to technical guidance on school closures, required school infrastructure, such as building ventilation and the safe reopening of schools. Information, education, and communication materials were developed in collaboration with the MOH, Ministry of Education, and Ministry of Pre-School Education with more than 6 million children in schools, 1.4 million children in pre-schools, 2 million parents received information, and 14,000 preschool institutions receiving materials.\nOnline training mechanisms developed by WHO, in conjunction with the MOH Post Graduate Medical Institute, allowed experts to train large groups of healthcare workers in the public and private sector from across Uzbekistan (500 people per session) on COVID-19 related issues and topics, with the training materials made available to partners outside of the health sector.",
"gender": "Unknown"
}
] |
PMC8804283
|
[
{
"age": 9,
"case_id": "PMC6296698_01",
"case_text": "The patient was a 9-yr-old Iranian girl presenting to the Pediatric Emergency Room of Moosavi Hospital, Zanjan, Iran in January 2017, with sudden onset of headache and recurrent vomiting, ataxia and history of 3 consecutive days of fever and malaise. There were left eye ptosis and decrement of left nasolabial fold in patient's face. The patient had tremor and truncal ataxia. The force of the extremities and deep tendon reflexes were normal in physical examination. Her heart rate was 110 min, blood pressure 90/60 mm Hg and temperature 38.2 C. The patient's weight was 21 kg and had 133 cm height and head circumference was 52 cm. The patient had no history of head trauma. \nAn informed consent was obtained from her parents in order to publish data as a case report without publishing her name. Ethics Committee of the university approved the study.\n Diagnostic focus and assessment: \nThe patient underwent a brain CT scan without contrast in first day of admission preceded by CBC, diff, BUN, Cr, Na, K, Arterial blood gas sampling (ABG) and Urine analysis. On the second day, brain magnetic resonance venography (MRV) and magnetic resonance imaging (MRI) with flair, T1, T2 and DWI sequences and also EEG were ordered, then lumbar puncture with 3 samples was carried out. About 48 h after the MRI the patient became aggressive and had severe headache, nausea and vomiting plus ataxia and delirium, then the patient transferred to PICU and we decided to order the second CT scan and after the results, we asked for urgent neurosurgery consultation and the patient was prepared for brain surgery. The day after surgery the patient underwent brain CT scan without contrast again and laboratory tests were repeated. The patient underwent the last brain CT scan without contrast on thirteenth day and also had an EEG on the same day. We also did a portable echocardiography plus electrocardiography to determine presence of any PFO or ASD or any cardiac problems.\n Therapeutic focus and assessment: The patient presented with sudden onset of headache and recurrent vomiting, ataxia, and history of 3 consecutive days of fever and malaise. Our first clinical suspicion was cerebellitis or post infectious ataxia (Figure 1) so we ordered intravenous ceftriaxone, intravenous pantoprazole, and ondansetron for two days. We also ordered acyclovir ampule plus dexamethasone ampule for the patient and after the brain MRI results that were consistent with cerebellar infarction aspirin tablet was prescribed for the patient. On the fourth day (48 h after) because of the patient's severe headache, intravenous acetaminophen was administered and dexamethasone was held and the patient was transferred to pediatric intensive care unit (PICU) and intravenous phenytoin ampule plus vancomycin ampule were prescribed. After the brain CT, because of obstructive hydrocephaly arising from cytotoxic edema mannitol and dexamethasone ampule were ordered for the patient and the patient became ready for the brain surgery. The next day after the surgery and inserting a drain in the left lateral ventricle, mannitol was discontinued. The day after, phenytoin ampule was held and Diamox tablet (acetazolamide) was ordered. Physiotherapy and occupational therapy of the left extremities begun for the patient and because of constipation lactulose syrup were ordered. \n Follow-up and outcomes \nThe first EEG report was mildly abnormal due to some spike and wave discharges (Figure 2 Left) and in the last EEG report, there were some background attenuations without epileptiform activity (Figure 2 Right). The patient had a lumbar puncture with normal result. The first and the last laboratory data are as follows (Table-1)\nThe urine analysis result was normal. The HPLC Amino Acid profile was normal except lower than normal range of arginine (26.8) and higher than normal range of alanine (148.0). We also obtained an Arterial Blood Gas sample from the patient that was normal (Table 1). The echocardiography and electrocardiography results both were normal. Findings on the first brain CT scan were a dim hypodensity in the left cerebellar hemisphere accompanied by a mild generalized ventriculomegaly (Figure 3 Left). The MRV's result was also normal (Figure 4 Right). In the MRI report, there were abnormal low T1 and high T2 signal intensity in left cerebellar hemisphere involving superior and middle cerebellar peduncles in the same side as well (Figure 3 Right , Figure 4 Middle), restriction was noted in this region. DWI findings were consistent with cerebellar infarction in this region (Figure 4 Left). On the second brain CT scan that was 48 h after the MRI, there was an intense hypodensity arising from cytotoxic edema in the left cerebellar hemisphere with concomitant cortical entanglement exerted pressure on fourth ventricle and had resulted in hydrocephaly, severe ventriculomegaly was also seen in the CT scan (Figure 5 Left) . On the third brain CT which was after the patient's surgery, there were evidence of craniotomy in occipital bone on the left side and hemispherectomy of the left hemisphere of the cerebellum, the drain in the left lateral ventricle was in its appropriate position (Figure 5 Middle). The last brain CT scan had no new findings and the drain was extracted from the brain (Figure 5 Right). Pathology result of surgical biopsy of brain tissue was cerebellar tissue with small foci of hemorrhage accompanied by presence of vascular malformation, most probably venous angioma.\nAfter 5 months the force of the extremities was normal and the ataxia was completely disappeared. The patient now goes to school and has no problems in daily life activities. The patient is now under treatment with an aspirin 80 mg tablet daily.",
"gender": "Female"
}
] |
PMC6296698
|
[
{
"age": 47,
"case_id": "PMC4302971_01",
"case_text": "A 47-year-old Caucasian woman with a nonsignificant medical history presented with generalized chronic severe periodontitis with secondary occlusal trauma (Figure 1).\nPrimary etiologic factors included heavy accumulation of plaque and calculus, with secondary factors including defective restorations and occlusal trauma. She presented with cyanotic edematous gingiva, severe clinical attachment loss, and mucogingival defects and recession. Upon occlusal evaluation, it was revealed that the maxillary midline coincided with the facial midline, with horizontal overlap of 1 mm and vertical overlap of 2 mm. Smile analysis revealed that the patient had an average smile line and maxillary incisal edges did not follow the curvature of the lower lip (Figure 2). Centric occlusion to maximum intercuspation discrepancy was found to be 1 mm forward.\nThe patients' final treatment plan included full mouth rehabilitation through a staged approach with guided implant surgery. The final implant abutments were selected on the guided software in areas # 3, 5, 7, 10, 12, and 14 for the maxilla and 19, 21, 23, 26, 28, and 30 for the mandible. The case was treatment-planned to be staged using selected maxillary teeth # 6, 11, and 13 and the mandibular teeth # 20, 22, 27, and 29 to be retained as abutments for a fixed temporary prosthesis with a transitional removable prosthesis (Figure 3).\nThe first phase of the periodontal treatment plan included oral hygiene instruction and full mouth supragingival debridement, followed by root planning with subgingival irrigation with chlorhexidine gluconate on the temporary abutment teeth. The criteria for the retention of these teeth included decreased mobility and probing depths and a favorable prognosis compared to the remaining hopeless teeth. Selected teeth were prepared and single unit provisional crowns were fabricated using temporary acrylic material (Alike, GC America Inc., Alsip, IL) and cemented with temporary cement (Tempbond NE, Kerr Manufacturing Co., Romulus, MI). At the re-evaluation visit, the patient presented with significantly improved oral hygiene and a reduced plaque index.\nUpon phase 1 re-evaluation, the first surgical phase of the treatment included extraction of hopeless maxillary and mandibular teeth, utilizing GBR with mineralized crushed cortical bone (RegenerOss Allograft, Biomet 3i) and a resorbable collagen membrane (OsseoGuard Flex, Biomet 3i) for the deficient extraction socket areas, # 3, 7 to 10, 23 to 26, 21, and 28. Tooth # 5 was selected for extraction and GBR with tenting screw technology as part of the maxillary grafting procedures (Figure 4).\nPeriosteal releasing incisions were followed by horizontal mattress and single interrupted Vicryl 4.0 sutures, stabilizing the flap and achieving primary closure. The patient was prescribed amoxicillin 500 mg every eight hours for 7 days, chlorhexidine gluconate rinse twice a day for 2 weeks, nonsteroidal anti-inflammatory medication (ibuprofen 600 mg, q4-6 h) for 7 days postoperatively, and 2 grams of amoxicillin premedication. Preparation for full coverage restoration was finalized and preliminary alginate impressions (Jeltrate Plus, Dentsply Caulk, York, PA) were made to create diagnostic casts. Record bases with occlusal rims were fabricated on the diagnostic casts, which were mounted on semiadjustable articulator (Hanau Wide Vue, Whip Mix, Fort Collins, CO) using facebow transfer and centric relation records. Intraoral protrusive record was made to program the horizontal condylar inclination. The lateral condylar inclination was calculated based on Hanau formula (L = H/8 + 12). The result of the formula was used to program the lateral condylar inclination on the articulator. Full mouth diagnostic setup using denture teeth was completed on the mounted casts. The casts with diagnostic setup were duplicated and provisional fixed prostheses were then fabricated and cemented on abutments teeth # 6, 11, and 13 with a cantilever pontic # 5 for the maxillary arch. The initial set of temporary prostheses was delivered immediately after extraction of the hopeless maxillary and mandibular teeth. It was used as a template for adjustments in order to arrive at optimized esthetics, phonetics, and function before fabrication of metal-reinforced laboratory processed provisional prosthesis. Bilateral internal sinus lifts in the areas # 3 and 14 and implant placement were scheduled in 3 months. Abutment teeth # 20, 22, 27, and 29 were used to retain a mandibular fixed provisional prosthesis (Figure 5).\nAfter 3 months of uneventful healing, another set of provisional fixed prostheses for improved esthetics, phonetics, function, and strength were fabricated. Alginate impressions were made for the previously optimized provisional prostheses and prepared teeth. Alginate impressions were poured in dental stone. The casts of the maxillary and mandibular prepared teeth were cross-mounted to the casts of the optimized provisional prosthesis. Denture teeth were set on the casts of prepared teeth, which were hollowed out from the palatal/lingual aspect to accommodate the prepared teeth and create space for the metal frames that were cast with beads to retain denture teeth and temporary acrylic material (Alike, GC America Inc., Alsip, IL). The metal-reinforced provisional prostheses were relined with acrylic material and cemented over abutment teeth using temporary cement (Tempbond NE, Kerr Manufacturing Co., Romulus, MI). Interim removable partial dentures were delivered to replace the missing posterior teeth for better esthetics and function.\nThe provisional fixed prostheses were evaluated and adjusted periodically, if needed, to enhance esthetics and phonetics. Alginate impressions were made from the provisional fixed prostheses, which were then removed, and another set of alginate impressions were made of the prepared abutment teeth. The casts were then cross-mounted on a semiadjustable articulator. Mucosa-tooth supported radiographic guides were fabricated over the prepared teeth using orthodontic resin (Dentsply International Inc., Milford, DE) mixed with barium sulfate for the teeth and orthodontic resin only for the denture base. Straumann templiX reference plates, containing three titanium reference pins, were attached to the radiographic guides where Straumann gonyX was used to record reference pins orientation.\nThe second surgical phase initiated with CBCT evaluation and treatment planning of restoratively dictated implant positions. The reference pins were detected on the coDiagnostiX software. The match between the software planning and the reference pins on the radiographic guides was ensured. The radiographic guides were fitted back on the casts of prepared teeth. The casts were remounted on Straumann gonyX using previous reference pins orientation. The radiographic guides were then converted to surgical guides with addition of metal sleeves based on spatial position and depth information provided by coDiagnostiX software. A flapless approach and CBCT guided surgery with tooth-stabilized mucosa-supported surgical guides for minimally invasive intervention were the treatment of choice. Two-staged bone level SLActive titanium implants were placed at # 3, 5, 7, 10, and 14 sites in the maxilla and at # 19, 21, 23, 26, 28, and 30 positions in the mandible. The canine positions in the mandible were not considered as potential implant sites because there was enough bone quantity at the lateral incisors position, which provided proper implant distribution in the arch. Additionally, six implants were enough to support mandibular implant fixed prosthesis due to favorable bone quality in mandible (types I-II) as apposed to maxilla (types III-IV). The mandibular definitive prosthesis was planned to be splinted using precision attachments. At this stage preventive maintenance of the abutment teeth for the temporary prosthesis was, also, performed.\nStaging the case allowed for a novel technique for sinus lift procedures through a surgical guide using Salvin/Drew osteotomes (Figure 6).\nThe CBCT evaluation revealed 7.0 mm of residual bone in areas 3 and 14. Ideal implant placement indicated bilateral sinus lifts at the areas of 3 and 14 and simultaneous ridge expansion through the surgical guide, utilizing the Salvin osteotomes # 2.6, 3.1, and 3.8 mm and the intermediary Salvin/Drew osteotomes 2.6 and 3.1 mm. The intermediary osteotomes were tapped through cortical crestal bone to ensure that the Salvin osteotomes engaged the site. It should be noted that as soon as Salvin/Drew osteotomes reach the initial hub, the next Salvin osteotome can be engaged. The Salvin osteotome # 3.8 mm was then tapped to the final length of 1 mm from the sinus floor. To ensure the final length is accurate, the operator needs to consider the height of the soft tissue and the height of the sleeve in the surgical guide, through which the osteotome is inserted. For site 14, planning on the software revealed 7.0 mm of residual ridge, 5.0 mm in height of the guide sleeve, and the 6.0 mm in soft tissue height. The final length on the last osteotome of 17.0 mm was marked with a stop cylinder, when used through the surgical guide. The guide could now be easily removed. The osteotomy was filled with bone graft material (Bio-Oss, Osteohealth) and osteotome # 3.8 mm was pushed 1.0 mm from the floor of the sinus. The authors recommend using the osteotome with particulate graft material, when the concave tip of the osteotome is 1 mm coronal to the sinus floor. Using this protocol, the graft material, and not the osteotome, is elevating the sinus. The addition of bone graft material was repeated 4 times until the desired length of 17.0 mm was achieved, resulting in a 4 mm internal lift.\nFor the prepared osteotomy at site # 14 an SLActive 4.8 x 10 mm was planned to be placed, but due to lack of initial stability a 6 x 10 mm MTX microtextured surface implant was eventually placed. Utilizing the same technique for site # 3 we achieved an increase of 5.0 mm in height which allowed us to place as planned a 4.1 mm x 12.0 mm SLActive implant. Utilizing a tooth-borne surgical guide enabled an easy removal of the guide and radiographic evaluation with 2 periapical X-rays to confirm adequate sinus elevation at sites # 3 and 14. The provisional fixed prostheses were then cemented back, which was an advantage of staging the treatment. The provisional pontic areas above the implants were relieved slightly to allow for minor swelling (Figure 7).\nPre-operative medications for the guided surgery and the simultaneous sinus lifts were prescribed 1 hour before the appointment included 2 grams of amoxicillin and 2 tablets of an Medrol dose pack. Postoperative medications that included amoxicillin 500 mg every 8 hours for 7 days, chlorhexidine gluconate rinse twice a day for 2 weeks, Tylenol # 3 every 4 hours as needed for 7 days, and Medrol dose pack (methylprednisolone 4 mg) were prescribed.\nAfter 3 months, all the implants were uncovered and periodontal plastic surgery, with partial thickness flaps, 2 vertical releasing incisions, and an apically positioned flap, was performed for site 3 and the mandibular molar areas due to lack of attached gingiva (Figure 8). This inadequate attached gingiva is common postextraction/GBR, where the mucogingival junction is advanced coronally to achieve closure. Implant level impressions were made for maxillary and mandibular implants which were then poured and mounted against the previous mounted casts of provisional prostheses. Screw-retained provisional prostheses were fabricated with apical pink acrylic to avoid excessively long nonesthetic prostheses. The abutment teeth # 13, 20, 22, 27, and 29 were extracted and augmented with mineralized crushed cortical bone (RegenerOss Allograft, Biomet 3i) and a resorbable collagen membrane (OsseoGuard Flex, Biomet 3i). The screw-retained provisional prostheses were delivered at this point (Figure 9).\nAdditionally, flapless immediate one-stage bone level SLActive implants were placed at # 6 and # 11 extraction sockets, through the surgical guide. Peri-implant augmentation with mineralized crushed cortical bone, prior to healing abutment placement, was performed. The sites were stabilized with Vicryl 4-0 sutures after easy removal of the mucosal-tooth-borne guide (Figure 10).\nScrew-retained prostheses were hollowed in positions # 6 and 11 and temporary cylinders were attached to the immediately placed one-stage implants # 6 and 11. The cylinders were picked up intraorally using temporary acrylic material (Alike, GC America Inc., Alsip, IL). The provisional fixed prostheses were finished and polished around newly added temporary cylinders and delivered back to the patient (Figures 11 and 12).\nSix weeks allowed for healing around immediately placed implants # 6 and 11. Fixture level impressions were taken for maxillary and mandibular implants and poured in dental stone (Silky Rock, Whip mix) for master casts. The master casts were then cross-mounted against the duplicate cast of corrected implant retained provisional prostheses. The design of the definitive prostheses involved screw-retained porcelain fused to metal for ease of retrievability when needed on follow-up visits. The use of cast metal frame, which is an integral part of the definitive prosthesis, allows predictable sectioning and soldering in case of misfit upon try-in stage and provides high strength while giving enough space for porcelain to get an excellent esthetic outcome. The maxillary and mandibular definitive prostheses were designed in 3 separate sections in each arch. The provisional and the definitive prostheses were fabricated with even posterior teeth contacts in centric jaw position, anterior guidance in protrusion, and canine guidance with immediate posterior disocclusion on lateral eccentric movements. Since 6 implants were placed for the mandible, the definitive prostheses had precision attachments on the distal aspects of the mandibular canines. Designing the prostheses with multiple sections allows for easier maintenance and management of future prosthetic complications. Post-insertion management includes delivery of night guard and follow-up visits every 3-4 months for the first year and then every 6 months thereafter.",
"gender": "Female"
}
] |
PMC4302971
|
[
{
"age": 50,
"case_id": "PMC7750755_01",
"case_text": "A 50-year-old man presented with a 1-month history of an enlarging, painless chest wall mass. The patient has been a smoker for 30 years (two packets per day). The mass was excised, and gross examination revealed a hard, whitish, subcutaneous lesion with infiltrative borders. The lesion measured 3.8 cm in maximum dimension. Microscopic examination revealed a highly cellular neoplasm composed of closely packed, atypical spindle cells with scant cytoplasm, nuclear hyperchromasia, and brisk mitotic and apoptotic activity. A prominent hemangiopericytoma-like vascular pattern was observed (Figure 1). Moreover, a fibrosarcoma-like fascicular pattern was focally identified. Lymphovascular invasion was also observed. The tumor cells were immunohistochemically positive for TTF1, synaptophysin, and chromogranin, but were negative for S100 and BCL2. The Ki67 proliferative index was approximately 80% (Figure 2). Small cell carcinoma was the preferred diagnosis. Further evaluation by positron emission tomography-computed tomography (PET/CT) whole-body scan revealed an irregular spiculated right hilar lung mass with widespread metastases to the brain, liver, and adrenal glands. The cervical, supraclavicular, mediastinal, and retroperitoneal lymph nodes were also involved. The patient was scheduled for radio- and chemotherapy.",
"gender": "Male"
}
] |
PMC7750755
|
[
{
"age": 64,
"case_id": "PMC9428849_01",
"case_text": "A 64-year-old Caucasian woman with a past medical history of chronic alcohol abuse disorder and recent poor oral intake presented for altered mental status. Initial labs were notable for a sodium 107 and a white blood cell count of 17.7. She was admitted for severe symptomatic hypovolemic hyponatremia which improved with one bolus of hypertonic saline and tube feeds. Initial chest x-ray (Fig. 1) showed no signs of consolidation. However, over the next 36 hours, she developed acute hypoxemic and hypercapnic respiratory failure, requiring intubation. Left subclavian central venous line was attempted and was complicated by left sided pneumothorax (Fig. 2). Considering this image and patient's clinical presentation, aspiration pneumonitis was considered. Her interval chest x-ray later showed a worsening right middle and lower lobe consolidation (Fig. 3), concerning for pneumonia. She treated with Ceftriaxone and Azithromycin and later escalated to Vancomycin and Cefepime for empiric treatment of community and hospital associated pneumonia, respectively. She failed to improve clinically on both courses. Over the next 5 days, she developed a large loculated right sided pleural effusion demonstrated on chest CT and x-ray (Fig. 4). Pulmonology obtained a bronchoalveolar lavage that grew >100,000 CFU of Bordetella bronchiseptica, and she was placed on droplet precautions. Due to high coinfection rates in the literature, she was tested for HIV and COVID-19 which were both negative. Of note, the patient endorsed having two dogs and a cat that lives indoors. The patient underwent ultrasound guided thoracentesis with thoracostomy tube placement for drainage. The pleural fluid's LDH was 1,389, total protein was 3.5, and fluid culture grew B. bronchiseptica, confirming the diagnosis of empyema based on Light's criteria . Her hospitalization course improved with a 10-day course of piperacillin-tazobactam, thoracostomy tube drainage, and alteplase/dornase alfa infusions for fibrinolysis of the loculations (Fig. 5, Fig. 6). She was discharged on a 4-week course of Augmentin with follow up with the Infectious Disease clinic. At the follow up visit, the patient's respiratory symptoms were completely resolved, and her repeat chest x-ray (Fig. 7) showed complete resolution of pulmonary consolidations and empyema.",
"gender": "Female"
}
] |
PMC9428849
|
[
{
"age": 50,
"case_id": "PMC9536313_01",
"case_text": "A 50-year-old male with a previous history of chronic pancreatitis came to the hospital with three episodes of melena and epigastric fullness. On clinical examination, he had anemia and his blood pressure was 90/60 mmHg. After resuscitation, he underwent upper gastrointestinal endoscopy which was normal. He also had a history of hematemesis for which he was evaluated with triphasic abdominal contrast-enhanced computed tomography (CECT) (Figure 1). His abdominal CECT showed an 8x6 cm pseudocyst in the lesser sac with a 4x3 cm hyperdense area and multiple calcifications were observed in the pancreas. For the SAP, he underwent digital subtraction angiography embolization and celiac trunk angiography was performed during the procedure by puncturing the femoral artery using the Seldinger method. The splenic artery pseudoaneurysm was identified and a total of three coils were used for embolization (2 coils proximally and 1 coil distally) and no stents were used (Figure 2). Three weeks after embolization, the patient presented with hematemesis and hypovolemic shock. His abdominal CECT showed a giant splenic artery pseudoaneurysm with calcifications in the pancreatic parenchyma (Figure 3). The patient was resuscitated and prepared for exploratory laparotomy, given his clinical condition.\nOn exploration, the patient's abdomen was filled with blood and clots, which were suctioned out. Opening the gastrocolic omentum revealed a thrombosed sac with diffuse bleeding visible from the outer wall of the sac, but no arterial spurt was identified from the sac. After opening the lesser sac, control of the supraceliac aorta was taken, but we were unable to reach the celiac axis and splenic artery proximally or distally because of dense adhesions. After obtaining supraceliac aorta control, we directly opened the sac and an arterial spurt was identified and ligated (Figure 4). Since the splenic vein was thrombosed, it was identified and ligated (Figure 5), followed by splenectomy. Pathology of the pancreas was suggestive of chronic pancreatitis. Postoperatively, the patient had a grade A pancreatic fistula which was managed conservatively and he was discharged on day 7. Anticoagulation medications were not used postoperatively. Six months post-surgery he was asymptomatic.\nThis manuscript is in accordance with the Helsinki declaration and with local ethical guidelines. Informed consent was obtained from the patient. Written informed consent was obtained from the patient's husband for publication of this case report and any accompanying images.",
"gender": "Male"
}
] |
PMC9536313
|
[
{
"age": 2,
"case_id": "PMC5702414_01",
"case_text": "Five patients were treated at the N.N. Blokhin Russian Cancer Research Center (Moscow, Russia) and the Children's Hospital of Michigan (Detroit, MI). We obtained informed consents for chemotherapy and PBSC collection from all patients included in this analysis. The patients received repeated cycles of ICE (ifosfamide 9000 mg/m2, carboplatin 500 mg/m2, and etoposide 500 mg/m2) chemotherapy supported by autologous PBSC. Three patients had a single leukapheresis procedure following 2nd to 4th cycle of chemotherapy and G-CSF stimulation, and the product was split into four equal doses. In two patients (patients 2 and 4, Table 1), we used PBSCs obtained after leukapheresis procedures that did not collect required numbers of CD34+ cells to support myeloablative chemotherapy and otherwise would be discarded. The PBSCs were reinfused 24 hours after completion of consolidation chemotherapy cycles followed by G-CSF or GM-CSF stimulation. We used the number of days from the start of chemotherapy to ANC recovery to > 1000/mm3 to evaluate hematopoietic toxicity. We compared these data to induction chemotherapy cycles administered without PBSC support in the same patients. We used the Student's t-test to determine the significance of differences.\nThe following is a short description of each patient's case:\nPatient 1 was a 2-year-old male with stage 4 anaplastic Wilms' tumor whose metastatic lung disease was refractory to the first line of chemotherapy, and he was switched to ICE. He subsequently received 4 cycles of ICE chemotherapy with PBSC support after cycles 3 and 4. He had partial radiological response (PR) to chemotherapy and subsequently received high-dose melphalan with PBSC support; however, he developed a second disease recurrence 3 months after transplant.\nPatient 2 was a 17-year-old female with stage 4 favorable histology Wilms' tumor who developed both pulmonary and abdominal recurrence 10 months after initial therapy. She was treated with abdominal tumor resection and 4 cycles of ICE chemotherapy with PBSC support after cycle 3 (an infusion of 0.3 x 106 CD34+ cells/kg from apheresis that did not collect required dose for myeloablative therapy was given). She had PR to chemotherapy. She then received high-dose thiotepa and melphalan with autologous bone marrow transplant. She developed recurrent disease 4 months after transplant.\nPatient 3 was a 9-year-old male with stage 3 favorable histology Wilms' tumor who had pulmonary recurrence 13 months after his initial therapy and was treated with 6 cycles of ICE chemotherapy with PBSC support after cycles 3 through 6. He had PR to chemotherapy and was alive without signs of disease more than 10 years off therapy at the time of this report.\nPatient 4 was a 1.5-year-old male with stage 3 Wilms' tumor abdominal recurrence. He underwent complete abdominal tumor resection and then received ICE chemotherapy as a consolidation with PBSC support after cycle 3 (an infusion of 1.8 x 106 CD34+ cells/kg from apheresis that did not collect required dose for myeloablative therapy was given). The patient was still under therapy at the time of this report.\nPatient 5 was a 20-year-old female with metastatic PNET with primary abdominal tumor and multiple metastases to the lungs, lymph nodes, and vagina. She underwent abdominal surgeries and received ICE chemotherapy. She had very good partial response after the first two cycles but developed significant hematological toxicities after cycles 3 and 4 even with 30% chemotherapy dose reductions. She received her ICE cycles 5 and 6 at full dose followed by 0.82 x 106/kg CD34+ cells support per cycle and tolerated them well with significant reduction of hematological toxicity. The ANC recovery to > 1000/mm3 was on day 26 after cycle 4 and on day 17 after cycles 5 and 6. Platelet count recovery to > 50,000/mm3 was on day 29 after cycle 4 and on day 26 after cycles 5 and 6. She subsequently remained in remission for 7 months but developed metastatic recurrence thereafter and died of disease.\nSevere myelosuppression was the main toxicity observed in all patients receiving ICE chemotherapy. The doses of infused CD34+ cells ranged 0.3 to 1.8 x 106/kg (mean 0.76 x 106/kg), and in 9 out of 10 PBSC infusions, the dose of CD34+ cells was below 1 x 106/kg (Table 1). In patients who started to receive PBSC support after their 3rd and subsequent cycles, there were no significant differences in ANC recovery between the first 2 induction cycles and the subsequent cycles given with PBSC support (17.6 days after cycles 1 and 2 versus 17.1 days after cycle 3 and subsequent cycles, p=0.28). All PBSC-supported cycles were given at the full planned doses.",
"gender": "Female"
}
] |
PMC5702414
|
[
{
"age": 57,
"case_id": "PMC4997775_01",
"case_text": "A 57-year old man presented to the emergency department for right wrist pain following a motorcycle crash. Physical examination revealed right wrist edema, pain with passive and active range of motion, and tenderness to palpation over the dorsal and volar wrist. Sensation was mildly diminished in the right thumb and the index and long fingers. X-rays of the right wrist were done (Figs 1a and 1b).\nWhat are the basic kinematic forces that act on the lunate?\nWhat is the Mayfield classification, and what stage is this patient's wrist injury?\nWhat are the immediate- and long-term concerns following lunate dislocation?\nWhat treatment options exist for the long-term sequelae of lunate dislocations?",
"gender": "Male"
}
] |
PMC4997775
|
[
{
"age": 79,
"case_id": "PMC9643303_01",
"case_text": "A 79-year-old female with CTCL was referred to our facility with symptoms of widespread plaque lesions, intense pruritis, and scattered ulcerated tumors on her extremities. After careful assessment of the patient's skin involvement, the modified severity weighted assessment tool (mSWAT) score was determined to be roughly 40 %. Prior to seeking treatment from our facility, she tried topical steroid treatment, systemic therapy (romidepsin), and had received 3 courses of focal radiation treatments to doses of 44 Gy in 22 fractions with complete response in those fields. Upon initial discussion of TSEBT the patient expressed hesitation, as she did not want to lose her hair. She had no past or current clinical evidence of scalp involvement, and we assured her that accommodations were possible. We created a customized helmet using high-quality blue wax polyethylene material manufactured by .decimal (dotdecimal.com) to create a bolus type structure that would attenuate the majority of dose, and spare the underlying scalp.\nOur beam is commissioned using 6 MeV electrons, and the expected energy at the patient's surface is roughly 4 MeV. Using commissioning data and percent depth dose curves, we estimated a 1.5 cm thick bolus helmet would be adequate to reduce the dose to the scalp to less than 10 percent.\nOur patient underwent computerized tomography (CT) simulation to obtain the exact contour of her head. Her hairline was wired during the simulation. The CT scan was imported into our treatment planning system; and a standard body contour was created, with a 1.5 cm uniform expansion. From this, a 1.5 cm thick false structure was formed using the previously wired hairline for reference (Image 1). This false structure contour was then transferred to .decimal for manufacturing. Within five business days, we received the milled polyethylene helmet in two pieces. These pieces were combined using adhesive and tape to form the final helmet (Image 2). The patient presented the day before treatment for a dry run and the helmet fit snugly. We use the modified Stanford technique with 6 standing positions and eye shields, so we added a chin strap to ensure the helmet did not fall or move when the patient changed positions during treatment.\nOn the first day of treatment, two nanoDot optically stimulated luminescence dosimeters (OSLDs) were placed on top of the bolus helmet and two OSLDs under the bolus helmet. The readings from these were 84-86 % for the two OSLDS placed on top of the helmet versus 3.9-4.1 % for the two OSLDs placed immediately under the helmet. Using these measurements, the estimated total dose to her scalp was less than 0.5 Gy over the six fractions of treatment.\nThe patient completed radiation treatment with good tolerance. She returned to the clinic one month and 6 months later with nearly a complete response of her skin disease (MSWAT 5 %) and no alopecia (Image 3).",
"gender": "Female"
}
] |
PMC9643303
|
[
{
"age": null,
"case_id": "PMC7591958_01",
"case_text": "A 59-year female presented to our outpatient clinic with recurrent episodes of right upper quadrant pain and nausea. Her medical history included morbid obesity (a body mass index (BMI) of 40.2), type II diabetes mellitus, hypertension, and right knee osteoarthritis. Her prescribed medications were metformin, atenolol, and buprenorphine patches. She was not on antiplatelets or anticoagulants. Previous surgical history included only an uneventful lumbar disc laminectomy. Ultrasound scan revealed fatty liver, multiple gallbladder stones without signs of cholecystitis, and a normal common bile duct (CBD) diameter. Preoperative work-up including full blood count, coagulation profile, and liver function tests was normal. An elective laparoscopic cholecystectomy was planned after discussing benefits and risks.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC7591958_02",
"case_text": "A prophylactic dose of enoxaparin (40 mg) was administered four hours preoperatively as per local protocol. An infraumbilical blunt port was inserted via Hasson' open technique. Following establishment of pneumoperitoneum, a further 10 mm epigastric operating port and two 5 mm right subcostal assisting ports were inserted under direct vision. The gallbladder was retracted, Calot's triangle anatomy was clearly displayed, and an adequate safety window was achieved before clipping and dividing the cystic artery and the cystic duct, respectively. The gallbladder dissection from the liver bed was accomplished without concerns by using an electric-coagulating hook. No blood loss or biliary leak was noted throughout the dissection. The gallbladder was extracted in an endobag through the infraumbilical port. All ports were removed under direct vision with no bleeding noticed from trocar sites. However, the patient had refractory hypotension within one hour postoperatively as her blood pressure dropped to 94/74 mmHg (compared to 140/90 mmHg one hour preoperatively) despite intravenous fluid resuscitation. She was saturating 97% on 100% oxygen therapy, with a pulse rate of 80 beats per minute and a respiratory rate of 20 breaths per minute. She was responsive and did not complain of abdominal pain. Abdominal examination revealed no signs of peritonitis. The haemoglobin level dropped from 13.5 g/dl preoperatively to 10.5 g/dl. Two units of red blood cells (RBCs) were transfused. Platelet count and coagulation profile were normal. An ECG showed T-wave inversion in leads II, III, and V1-V5; however, serial data (ECG and troponin levels) were negative for an acute coronary event. She was transferred to the intensive care unit for haemodynamic monitoring.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC7591958_03",
"case_text": "Following haemodynamic stabilization, an urgent triphasic CT scan demonstrated a large (21 cm x 3.1 cm x 17 cm) acute subcapsular haematoma surrounding the lateral surface of the right lobe of the liver and extending to the anterior surface of the left lobe (Figures 1(a) and 1(b)), with fresh blood along the paracolic gutters bilaterally. No contrast extravasation was visualized, and the hepatic artery, portal vein, and hepatic veins opacified normally. She was transfused two more units of RBCs and required a pressor support to maintain haemodynamic stability overnight. Broad-spectrum intravenous antibiotics were commenced as per microbiology advice. A plan of laparoscopic exploration in the event of further haemodynamic instability was discussed with the patient and her family. A national hepatobiliary unit was consulted, and they advised to continue with the conservative management. The patient was transferred the following day to specialized hepatobiliary services for close observation and possible surgical or radiological intervention if deemed necessary.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC7591958_04",
"case_text": "She was continued on the conservative management in the tertiary care centre. The patient was discharged on day 7 upon stabilization of haemoglobin level and a partial resolution of the haematoma. A follow-up ultrasound scan eight weeks postoperatively demonstrated a complete resolution of the subcapsular haematoma.",
"gender": "Unknown"
}
] |
PMC7591958
|
[
{
"age": 3,
"case_id": "PMC4156985_01",
"case_text": "A twenty-three-year-old African-American female with sickle cell trait presented to the emergency room with periumbilical and right-sided back pain associated with poor appetite and ten-pound weight loss over 4 months. She denied gross hematuria, dysuria, or additional urinary symptoms. She was a previously healthy nonsmoker with paternal family history of sickle cell trait. Physical examination was pertinent for fullness in the right flank and left supraclavicular lymphadenopathy. Laboratory findings revealed hemoglobin of 11.3 g/dL, platelet count of 269,000 per mm3, and normal LDH of 147 IU/L. Computed tomography (CT) scan of the neck, chest, abdomen, and pelvis demonstrated a 12 cm heterogeneous right renal mass (Figure 1(a)) with retrocaval, aortocaval, and paraaortic lymphadenopathy. In addition, there were bilateral pulmonary nodules (largest in right upper lobe measuring 1.8 x 1.4 cm), left pleural-based nodules (largest at the level of diaphragmatic pleura measuring 2.6 x 1.9 cm), and right hilar (2.5 x 2.2 cm), left supraclavicular, and bilateral cervical lymphadenopathy. MRI of the brain showed no evidence for intracranial metastasis.\nBiopsy of left supraclavicular lymph node revealed high-grade renal medullary carcinoma with prominent lymphovascular tumor emboli. The tumor cells were eosinophilic, containing large nuclei and focally prominent nucleoli with brisk mitotic activity. The neoplastic cells stained positive for AE1/AE3, cytokeratin CAM 5.2, epithelial membrane antigen (EMA), E-cadherin, cytokeratin 7, and cytokeratin 19 on immunohistochemical analyses (Figure 2). The cells stained weakly positive for c-Kit and negative for cytokeratin 20, S100 protein, carbonic anhydrase IX, mucicarmine, and CD10. Cytogenetic studies performed on the lymph node isolated a clone of cells with duplication of the long arm of chromosome 1 (resulting in partial trisomy 1q) and a derivative chromosome 22 with chromatin material of unknown origin attached to the long arm (resulting in partial monosomy 22q). Fluorescence in situ hybridization (FISH) for transcription factor E3 (TFE) gene translocation was negative.\nTreatment was initiated with dose-dense (dd) MVAC consisting of methotrexate 30 mg/m2 on day 1 followed by vinblastine 3 mg/m2, doxorubicin 30 mg/m2, and cisplatin 70 mg/m2 on day 2 of a 14-day cycle as described for metastatic urothelial carcinomas. She received growth factor support with pegfilgastrim on day 3 to reduce the risk of neutropenic fevers. Treatment with four cycles of dd-MVAC was associated with a significant reduction in size of renal mass from 9.3 cm to 5.9 cm with areas of necrosis on a CT scan of chest, abdomen, and pelvis (Figure 1(b)). There was near-complete resolution of right upper lobe and left lower lobe parenchymal lung nodules and retroperitoneal lymphadenopathy. Multiple pleural-based nodules in the left hemithorax and right hilar lymph node decreased. Two additional cycles of dd-MVAC were administered and a follow-up CT scan showed continued improvement in size of renal mass to 4.4 cm, improvement in retroperitoneal, hilar lymphadenopathy, and parenchymal lung lesions. The subject developed grade I renal insufficiency and grade II chemotherapy-induced nausea and vomiting (CINV) for which the cisplatin dose was reduced by 25% after the initial two cycles. Overall, she tolerated six cycles of dd-MVAC extremely well, with no hospitalizations.\nAfter achieving an excellent partial response to neoadjuvant chemotherapy, the patient underwent right radical nephrectomy with complete, bilateral retroperitoneal lymph node dissection without complications. Pathology revealed a gross tumor resection size of 6.2 cm. Viable carcinoma comprised approximately 2-4% of the tumor volume showing neoplastic cells with rhabdoid features in a background of extensive fibrosis and chronic interstitial inflammation. All surgical margins were negative for tumor. Two of 11 lymph nodes (one paracaval and one preaortic from the level of the aortic bifurcation) were involved with carcinoma (0.7 cm in greatest dimension) with no extracapsular extension. Pathologic TNM stage was assessed as pT1b N1 M1. Immunohistochemistry revealed a complete loss of SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1) expression. Subsequently, she underwent video assisted thoracoscopy and wedge resection of right lower lung lobe. Pathology showed inflammatory changes with no evidence of residual malignancy.\nFollow-up imaging in the form of CT chest, abdomen, and pelvis was obtained every four months and at one year from diagnosis she showed no recurrence of disease. At 16 months from initial diagnosis, she developed shortness of breath and restaging scans showed disease recurrence with hepatic, pulmonary lesions and bilateral pleural effusions. She had a rapidly progressive decline after relapse and died without receiving any further therapy.",
"gender": "Female"
}
] |
PMC4156985
|
[
{
"age": null,
"case_id": "PMC3184519_01",
"case_text": "A 20-minute-old newborn, whose mother used 64 mg methylprednisolone per day during her pregnancy due to ITP, was hospitalized for follow-up. Pregnancy duration was 39 weeks. The neonate was 2680 grams (3-10th percentile) at birth with head circumference of 36 cm (75-90th percentile) and height of 50 cm (25-30th percentile). Whole blood examination showed hemoglobin level of 19.1 g/dL, leukocyte count of 10 530/mm3, and platelet count of 10 000/mm3. Biochemistry profile revealed the following: blood glucose 29 mg/dL, sodium level 138 mEq/L, potassium 4.5 mEq/L, ALT 18 U/L, AST 62 U/L, calcium 9.5 mg/dL, phosphorus 4.8 mg/L, alkaline phosphatase 100 U/L, parathormone 13.91 pg/mL. On adrenal ultrasonographic examination, the adrenal glands were small measuring 10x2 mm in size for the right and 12x2 mm for the left one. Since the patient was thrombocytopenic, 0.8 g/kg IVIG infusion was given and repeated platelet count was 30 000 mm3. On the third day of follow-up, sodium level became 123 mEq/L, potassium 3.9 mEq/L, and urinary sodium level was 26 mEq/L. On the fourth day, cortisol level was 16.22 mug/dL, ACTH was 44.4 pg/mL, 17-OH progesterone was 2.58 ng/mL. On the 10th day, rechecking the adrenal functions, cortisol level was found to be 0.194 mug/dL and ACTH 20.9 pg/mL. After administration of 1 mug of ACTH i.v. (low-dose ACTH test), the cortisol level increased to 9.69 mug/dL at 30 minute. Then, the patient was given 3 mg/m2/day p.o. methylprednisolone as physiological replacement. The result of low-dose ACTH test on the 40th day postpartum was as follows: basal cortisol level of 4.29 mug/dL and 30th minute cortisol level of 11.29 mug/dL. Therefore, methylprednisolone therapy was continued and stopped by slowly tapering at the end of the 3rd month (Table 1). Low-dose ACTH test was repeated in the 4th posnatal month and the results were as follows: basal cortisol 4.75 mug/dL, ACTH 19.5 pg/dL. After 30 minutes, cortisol level was 19.9 mug/dL. Hormone tests and their results are summarized in Table 1. These results showed that the patient was relived from adrenal suppression.",
"gender": "Female"
}
] |
PMC3184519
|
[
{
"age": 2,
"case_id": "PMC8013530_01",
"case_text": "A 2-year-old boy was referred to the Otolaryngology department from the Neurology department with persistent and involuntary episodic chin trembling, which became more pronounced when he was upset or tired. The main concern was tongue biting during the night due to his chin trembling, which caused considerable bleeding and was beginning to cause scarring of the tongue. He was otherwise well with no significant past medical history and took no regular medications.",
"gender": "Male"
},
{
"age": 40,
"case_id": "PMC8013530_02",
"case_text": "His 40-year-old mother suffered with the same symptoms of chin trembling which had been present since early childhood, although had improved slightly over time. Her symptoms were worse with activities that required concentration, such as reading on the computer. It was also noticeable when the patient was stressed. She also suffered with occasional tongue-biting when asleep. She had no other medical problems and took no regular medications.\nThe diagnosis was made clinically by the neurology team based on the isolated symptoms and family correlation. They were both referred to the Otolaryngology department for treatment with botulinum. Other differentials include bruxism, tics, sleep disorders, and seizures. All patients should have a neurology consultation before coming to this diagnosis. Genetic testing was not available at our centre.",
"gender": "Female"
}
] |
PMC8013530
|
[
{
"age": 44,
"case_id": "PMC6735193_01",
"case_text": "A 44-year-old woman visited a nearby hospital with microscopic hematuria in June 2009. Her past medical history is tetralogy of Fallot. She had no medications at the time of the visit. There was no abnormality on physical examination. Computed tomography (CT) showed urachal remnant (urachal diverticulum at the dome of the bladder) and a large bladder diverticulum at the right lateral wall (Figures 1(a)-1(e)). Urine cytology was negative. Since she did not have any symptoms, she was followed up without therapeutic intervention. However, the residual urine had been increasing gradually, and she was referred to our hospital for continuous follow-up in February 2016. The postvoid residual urine was 150 ml at the time. After six months, she complained of severe dysuria and repeated urinary tract infection possibly caused by bladder diverticulitis. Cystoscopic examination showed a large diverticulum at the right wall, and diverticular mucosa was reddish and erosive (Figures 2(a) and 2(c)). Urachal diverticulum was small and without inflammation (Figure 2(b)). Antibiotic therapy with Levofloxacin was effective for UTI. She was started treatment with Urapidil of 30 mg/day simultaneously; however, the postvoid residual urine and dysuria did not improve.\nWe performed bladder diverticulectomy and excision of urachal remnant simultaneously with the laparoscopic approach in August 2017. We cut out the umbilicus circumferentially with the umbilical ligament connected and then dropped into the abdominal cavity. The 12-mm camera port was placed in the umbilical hole. We prepared the five working ports (Figure 3(a)). Two were inserted at the height of the umbilicus on the bilateral middle clavicular line, and the other three were inserted at the inside of the right upper abdomen and outside of the bilateral lower abdomen. First, we inserted a camera into the right side working port of the umbilicus height and dissected the urachal ligament and adjacent tissues toward the bladder using the remaining right working port (Figure 3(b)). We transferred the camera to the central camera port and dissected the umbilical ligament until just above the bladder dome. We could confirm the bulging of the bladder diverticulum just to the right side of the bladder dome (Figure 3(c)). We used the cystoscopy to visualize the diverticular neck. The cystoscopic light could be observed from the abdominal cavity, and the bladder diverticulum was circumferentially resected at its neck. The resection line was extended to the bladder dome, and the urachal diverticulum was also resected (Figure 3(d)). The specimens were placed in an organ retrieval bag and removed through the 12-mm camera port site. The bladder defect was closed in 2 layers with a running 3-0 V-loc suture. The total operative time was 216 min with minimal blood loss.\nThe Foley catheter was removed on the seventh postoperative day, and she was discharged home on the same day. For 18 months after the operation, she was able to void without residual urine, urinary tract infection ceased to develop, and had no recurrence of the diverticula (Figure 1(f)). Microscopic hematuria also disappeared.",
"gender": "Female"
}
] |
PMC6735193
|
[
{
"age": 70,
"case_id": "PMC3959373_01",
"case_text": "A 70-year-old, housewife, living in a small village, presented with a six-month history of more than 10 watery diarrheas per day and loss of 18 kilos of body weight. Laboratory data were normal, including hemoglobin, white cell count and differential, CRP, serum albumin and immunoglobulin, iron, feritin, vitamin B12, and folate. Chest x-ray was normal. ESR was 40 mm/h. Stool examination for hemoglobin, leukocytes, parasites and cultures for pathogens was negative (twice). Colonoscopy with biopsies was normal. Duodenal biopsies showed mild, non-diagnostic changes of mucosa villi. Antibodies to tissue transglutaminase, endomysial antibodies and serum chromogranin-A were negative, including HIV infection. A small bowel videocapsule endoscopy (SBVCE) study showed mucosal areas of denuded villi and prominent small bowel submucosal vessels in the jejunum, multiple linear whitish lesions surrounded by reddish mucosa (Fig. 1), and parasites within the ileal fluid, entering the ileal mucosa (Fig. 2). These SBVCE findings favored the diagnosis of Strongyloides stercoralis infection. Review of previous histology of small bowel and colon, two more stool examinations for parasites and serum IgG antibodies against Strongyloides stercoralis (ELISA) were negative. She also tested negative for the HTLV-1 co-infection. The patient was treated with two cycles of albendazole 400 mg/d for 7 days. At 6-month follow up, she had no diarrhea and gained 4 kg of body weight.",
"gender": "Female"
}
] |
PMC3959373
|
[
{
"age": 39,
"case_id": "PMC2939437_01",
"case_text": "We report a case of 39-year-old man without familial history of thyroid dysfunction, autoimmune disease, or thrombosis. \nHe presented with an acute right hemiplegia for which he was hospitalized in neurology department. Computed tomography (CT) scan had confirmed the presence of lacunar infarction in the internal capsule of the left cerebral hemisphere. \nHe was referred to our endocrinology unit because of signs of thyrotoxicosis including palpitation, polydipsia, and significant weight loss (6 kilograms).\nPhysical examination revealed a body mass index of 25 kg/m2, a blood pressure within normal range of 130/80 mm Hg, heart rate of 96 beats/min, bilateral exophthalmos, homogeneous goitre, and right hemiparesis. \nThe electrocardiogram showed regular sinus rhythm without atrial fibrillation.\nThyroid function studies revealed undetectable serum thyroid-stimulating hormone (TSH) (below 0.05 mUI/L) and positive antithyroid-stimulating hormone receptor antibodies confirming the diagnosis of Graves' disease (Table 1).\nThyroid scan with technetium 99 m (Tc-99 m) showed an enlarged thyroid gland with diffuse increased uptake.\nFasting blood glucose was 14.3 mmol/L and remained high in the subsequent assessment confirming the presence of diabetes, according to World Health Organization. The antibodies to glutamic acid decarboxylase (GAD) were negative. \nFor the assessment of his cerebrovascular accident, other investigations were performed showing positive antiphospholipid (APL) antibodies with IgG anti-beta2-Glycoprotien-I positive (beta2GP-I) and IgM anticardiolipin antibody positive which remains positive 3 months later (Table 1).\nThrombophilic factors including protein C activity, antithrombin III, protein S, and prothrombin time were within normal range. Antinuclear antibodies were negative.\nThe diagnosis of Graves' disease associated with a primary antiphospholipid syndrome (APS) was confirmed. The patient was treated with Aspirin (250 mg/day) and benzyl thiouracil (25 mg) at the dose of 12 tablets/day, with progressive regression. Improvement was shown in clinical symptoms and laboratory studies; Glycaemia levels and glycated haemoglobin returned to normal without any antidiabetic treatment.",
"gender": "Male"
}
] |
PMC2939437
|
[
{
"age": 68,
"case_id": "PMC10331202_01",
"case_text": "A 68-year-old female with a past medical history of well-controlled hypertension presented with a 10-day clinical course of paranoid delusions, anorexia, mutism, dysphagia, constipation, and disorganized behavior and speech.\nThe patient had no personal or family history of psychiatric illness; however, 2 months prior to the index presentation, she was evaluated due to anhedonia, non-specific gait abnormalities, and a 5-kg weight loss. The onset of these symptoms was related to a traumatic event in which she and her husband were simultaneously hospitalized for severe COVID-19, requiring critical care. Although the patient made a full recovery, her husband died, and due to her critical condition, she did not find out until several weeks later. In that previous consultation, she was diagnosed with a mixed anxiety-depressive disorder with psychotic symptoms for which treatment with antidepressants (sertraline 50 mg/day) and atypical antipsychotics (levomepromazine 5 drops/day) was started without an adequate response. The symptoms persisted after 6 weeks, even after the addition of a second antipsychotic (risperidone 2 mg/day). She reported being adherent to treatment and denied recreational drug use or other remarkable personal or familial psychiatric history.\nAt the index admission, the mental examination revealed diminished language production, altered introspection, and paranoid delusions. The rest of the physical and neurological examinations were unremarkable. The initial working diagnosis was probable schizoaffective features associated with the newly diagnosed psychiatric condition. However, the age and abruptness of onset, as well as the suboptimal response to medications, raised the suspicion of underlying organic pathology.\nComputed tomography (CT) and magnetic resonance imaging (MRI) of the brain showed no abnormal findings. Laboratory workup ruled out infections and ingestions. Moreover, an upper gastric endoscopy was performed due to dysphagia and weight loss, ruling out malignancies and other anatomical defects. The metabolic panel was remarkable for an elevated corrected total calcium (13.21 mg/dL, normal: 8.6-10.3 mg/dL), confirmed with ionized calcium (1.8 mmol/L, normal: 1.15-1.30 mmol/L). A workup for hypercalcemia ruled out malignancies with a negative serum protein electrophoresis and a normal thoracoabdominal CT. pHPT was diagnosed based on an elevated PTH (396 pg/mL, normal: 14-55 pg/mL), a normal 24-h urinary calcium (224 mg/day, normal: 100-300 mg/day), and the incidental finding of nephrolithiasis in the abdominal CT (laboratory results are presented in Table 1). Scintigraphy was performed and revealed a retropharyngeal ectopic parathyroid adenoma.\nIntravenous fluids were used as first-line treatment of hypercalcemia, without improvement. Consequently, a single 4 mg dose of intravenous zoledronic acid was administered, achieving a decline in ionized calcium to 1.11 mmol/L in the following week. With the resolution of hypercalcemia, psychiatric symptoms subsided, delusions ceased, and dysphagia resolved.\nUpon discharge, the antipsychotics were discontinued, and cinacalcet (30 mg daily) was started. She was referred to the head and neck surgery department for parathyroidectomy. However, in the context of the COVID-19 pandemic, surgery had to be deferred, and the patient was lost to follow-up.",
"gender": "Female"
}
] |
PMC10331202
|
[
{
"age": 16,
"case_id": "PMC10119779_01",
"case_text": "A previously healthy 16-year-old Hispanic girl presented with abdominal pain and jaundice. She reported a 4-week history of intermittent, sharp, right upper quadrant pain that was worse after eating. When she developed scleral icterus, acholic stools, and dark urine, she presented for evaluation. Blood work revealed transaminitis (AST 322 U/L [normal 17-33 U/L], ALT 360 U/L [normal 8-24 U/L]) with a direct hyperbilirubinemia (total bilirubin 7.2 mg/dL [normal 0.2-1 mg/dL], direct bilirubin 5.2 mg/dL [normal <0.3 mg/dL]), and elevated GGT (1,346 U/L [normal 10-21 U/L]). Computed tomography of the abdomen and pelvis revealed a large, infiltrative central liver mass. Magnetic resonance imaging (MRI) confirmed a poorly defined, T1 hypointense, T2 hyperintense mass at the porta hepatis measuring 6 cm x 6.7 cm x 6.9 cm with distal biliary ductal dilatation. The left portal vein was not visualized in its course through the mass; the right portal vein demonstrated normal enhancement (shown in Fig. 1a, b). A chest computed tomography scan was notable only for a left lower lobe calcified granuloma, and a positron emission tomography scan revealed fluorodeoxyglucose avidity solely in the known hepatic mass. The patient underwent percutaneous biliary decompression and drain placement along with biopsy of the mass by interventional radiology. Pathologic evaluation of the biopsied tissue demonstrated immunohistochemical staining positive for CK7 (strong, diffuse), mucicarmine, CK19 (focal), CK56 (focal), and galectin-3 (focal) and staining negative for CK20, S100P, TTF-1, and CDX-2, which, in conjunction with morphologic features, confirmed the diagnosis of cholangiocarcinoma (shown in Fig. 1c, d). The liver tumor was deemed unresectable due to its locally advanced nature. The patient therefore received standard cytotoxic chemotherapy treatment for unresectable cholangiocarcinoma with eight cycles of cisplatin-gemcitabine (cisplatin 25 mg/m2 followed by gemcitabine 1,000 mg/m2 on days 1 and 8 every 3 weeks). A partial response to chemotherapy was documented. She then underwent hypofractionated proton beam radiation therapy for definitive treatment (58.05 Gy [RBE] in 3.87 Gy [RBE] per fraction for a total of 15 fractions (shown in Fig. 1e, f)). The patient tolerated the treatment well with only grade 1 nausea and fatigue that was transient. On follow-up imaging, her primary tumor remained stable.\nThe patient enrolled in our institution's precision medicine study. Tumor tissue from the diagnostic biopsy was sent for comprehensive genomic sequencing (whole exome/paired normal and transcriptome sequencing) utilizing the GEM ExTra assay (Ashion Analytics, Phoenix, AZ, USA). Details of the test methodology and clinical reporting have been published previously. Tumor tissue sequencing identified a novel, presumed oncogenic AGRN-NRG1 fusion between chromosome 1 (AGRN) and chromosome 8 (NRG1) with breakpoints within exon 2 of AGRN and intron 1 of NRG1 (shown in Fig. 2a). Based on our institution's molecular tumor board discussion, the patient was started on the oral pan-ERBB family inhibitor, afatinib, as a form of maintenance therapy. She continued on afatinib 40 mg daily with stable disease for 17 months with the main side effect being acneiform rash. The patient then experienced disease progression with development of three new, subcentimeter, satellite liver lesions. Biopsy of the largest lesion confirmed cholangiocarcinoma, and sequencing identified persistence of the AGRN-NRG1 fusion along with the development of a MCL1 amplification. Despite detection of 66 new genomic alterations, none were classified as driver events (shown in Fig. 2b). The patient subsequently chose to enroll in a clinical trial utilizing an anti-ERBB3 monoclonal antibody for NRG1-altered tumors.",
"gender": "Female"
}
] |
PMC10119779
|
[
{
"age": 64,
"case_id": "PMC4987474_01",
"case_text": "A 64-year-old female patient with an otherwise normal medical history presented with abdominal pain over the previous four months. An upper gastrointestinal (GI) endoscopy showed an ulcerative lesion on the cardia of the stomach, and the pathological findings revealed a signet-ring cell adenocarcinoma of the stomach. The patient underwent a total gastrectomy, and the postoperative histological findings were consistent with medullary carcinoma with a lymphoid stroma. The surgical margins and extracted lymph nodes were negative. The pathological specimens, which were reexamined in our institute in order to confirm the diagnosis, were compatible with prominent lymphoid cell infiltration without evidence of signet-ring cells (Figure 1). The disease was staged as a T2N0M0 GMC and adjuvant capecitabine chemotherapy was planned. This patient had no relapse through 25 months of follow-up.\nThe tumour tissue specimens were also examined to investigate any possible associations with MSI and EBV. Positive staining for MLH1, MSH2, PMS2, and MSH6 was observed in the immunohistochemical analyses of the neoplastic cells; however, no significant loss of nuclear expression was present. The in situ hybridization studies using the EBV-encoded small RNA (EBER) test showed diffuse positive staining in the tumour cells (Figure 2).",
"gender": "Female"
}
] |
PMC4987474
|
[
{
"age": 88,
"case_id": "PMC6175750_01",
"case_text": "The first patient was an 88-year-old male that was referred to our center for a 1 mm neuroendocrine tumor in the upper rectum at 14 cm from the anal verge. This lesion was first diagnosed and biopsied during a routine colonoscopy. This was staged as yT1N0M0 rectal lesion. The patient had no symptoms. Additional histological findings demonstrated a 1 mm lesion without mitoses, a ki67 index at 1.1% and most importantly, positive margins. On follow-up rigid proctosigmoidoscopy, the residual stellate scar, which was less than 1 cm, was confirmed to be at 14 cm from the anal verge in the left lateral position (Fig. 5).\nAll treatment options were discussed with the patient including laparoscopic low anterior resection versus the less invasive trans-anal minimally invasive surgery. TAMIS procedure was selected for this patient. Given that the lesion was at 14 cm from the anal verge and therefore likely above the peritoneal reflection, a simple local excision could result in entering into the peritoneal cavity. Intraoperatively, the remaining scar was found to be mobile. It was therefore decided to proceed with the residual scar removal using a stapled technique. Echelon 60 and Endopath Flex 45 laparoscopic staplers were used, each with two reloads. The final pathology demonstrated only scar with no residual neuroendocrine tumour. The specimen was reported as full-thickness by the pathologist.\nThe second patient was a slim 56 years old female with an endoscopically non-resectable tubular adenoma at 12 cm from the anal verge in the anterior position. Stapled TAMIS surgery was proposed for this patient. The Endopath Flex stapler with 2 blue cartridges was used. Due to the anterior position of the lesion, in addition to abdominal entry at 12 cm, another potential complications could be vaginal trauma. A mandatory maneuver in this situation therefore was to include identification of the recto-vaginal septum using digital manual inspection. Prior to firing the stapler, a finger was kept in the vagina to make sure that it was not pulled into the resection. An additional helpful maneuver is to develop a plane between the vagina and rectum by injecting 5-10cc of saline into the recto-vaginal septum. At the end of the excision in this case, the vagina was intact. Final pathology demonstrated a full-thickness excision, no malignancy and negative margins.\nThe third patient was a 65-year-old female who had a recurrent serrated adenoma at 8 cm from the anal verge. Multiple attempts for removal under colonoscopy were unsuccessful. A pelvic MRI was performed. The MRI results featured an anterior 1.2 cm rectal lesion with concerns of invasion into the anterior mesorectal fascia (possible stage T4 lesion). However, there was no obvious pelvic lymphadenopathy or evidence of vascular involvement. Furthermore, there was no invasion or malignancy demonstrated on extensive biopsy. On digital rectal examination, the lesion appeared very mobile and smooth. It was therefore believed that the MRI findings could have been secondary to scarring due to prior endoscopic resections and biopsies rather than due to the presence of an advanced cancer. The diagnostic dilemma was discussed in a multidisciplinary meeting and reviewed with the patient. A decision was made to proceed with excision using the TAMIS platform. This was to serve as an excisional biopsy to be followed by further treatment if the lesion was confirmed to be an advanced cancer. This could also be a curative procedure if the final pathology was consistent with an adenoma or a T1 cancer with good prognostic factors.\nTAMIS using six laparoscopic stapler firings was performed in order to achieve macroscopically negative margins. The final pathology showed a tubulovillous adenoma with no high-grade dysplasia or malignancy with clear microscopic margins. Pathology confirmed the specimen was removed full thickness so a second procedure was spared.\nThe fourth patient was a 60 year old male who had a rectal lesion identified on colonoscopy after a positive FIT test. The lesion was located at 12 cm from the anal verge posteriorly and was attached to a relatively narrow pedicle. It was a large lesion which extended an additional 7 cm proximally. It was removed in a piecemeal fashion using 19 firings of the ETS Endo-GIA stapler and 3 firings of the Echelon blue powered stapler. Residual mass was left as the team had used multiple cartridges and felt that removing the distally remaining portion increased the chances of entering into the abdominal cavity. The residual mass appeared to be villous adenoma, which was felt would best be removed at an interval colonoscopy. The final pathology confirmed the specimen as villous adenoma with low-grade dysplasia. The residual lesion will be removed via colonoscopy two months post-operatively.\nThe fifth patient was an 81 year old, slim female who presented to hospital with hematochezia. She had a colonoscopy which showed a rectal polyp at 9 cm. Biopsy demonstrated severely dysplastic colonic epithelium suspicious for adenocarcinoma. She had a follow up endoscopic ultrasound which identified no obvious mass lesions or perirectal lymph nodes. CT imaging showed no metastatic disease. Interestingly, a pelvic MRI did not identify the lesion nor any lymph nodes of concern. Intraoperative assessment identified the lesion at 9 cm from the anal verge, in the anterolateral position. It was felt to be mobile intraoperatively and that a stapler would be beneficial to simultaneously remove and close the defect to reduce any chance of entering into the peritoneum. Three shots of the Endo-GIA stapler were fired. Final pathology identified multiple foci of well-differentiated invasive colonic adenocarcinoma within the submucosa: this lesion is pT1N0 SM3. At the follow up appointment management options going forward were discussed: full excision (via low anterior resection), which was recommended given the SM3 status, versus close surveillance. The patient wished to pursue close surveillance given her age and comorbidities. As is our standard she will undergo a flexible sigmoidoscopy at 3months and a colonoscopy at 1 year post-operatively. She will have a repeat MRI in 6 months time and if any findings, another repeat scope at that time. Her CEA levels will be repeated every 6 months.",
"gender": "Male"
}
] |
PMC6175750
|
[
{
"age": 17,
"case_id": "PMC4766290_01",
"case_text": "The CVI patient (and age/gender matched control subject) and parents provided written informed consent prior to participating in the study. The protocol was approved by the investigative review board of the Massachusetts Eye and Ear Infirmary (Boston, MA, USA) and the study was carried out according to the tenants of the Declaration of Helsinki and conformed to the requirements of the United States Health Insurance Portability and Privacy Act (HIPPA). Ophthalmological examination of the patient was conducted by an experienced pediatric neuro-ophthalmologist. At the time of study, the CVI patient was a 17-year-old girl, born prematurely at 32 weeks gestational age. In the perinatal period, she developed a grade III intra-ventricular hemorrhage with subsequent post-hemorrhagic hydrocephalus, periventricular leukomalacia (PVL), and spastic diplegia. She underwent bilateral strabismus surgery at 11 months to correct an esotropia. Best corrected visual acuity (Snellen) at the time of testing was 20/50 (right eye) and 20/40 (left eye). Her sensorimotor exam was notable for latent nystagmus and a residual microtropia. Funduscopic examination revealed evidence of optic atrophy in each eye, but was otherwise unremarkable. Visual field assessment was performed with automated visual field testing on a Humphrey Field Analyzer using a SITA-Fast 24-2 protocol (Humphrey Field Analyzer 750i, Zeiss Humphrey Systems; Dublin, CA).",
"gender": "Female"
},
{
"age": 17,
"case_id": "PMC4766290_02",
"case_text": "As a control, an age and gender matched subject (female, 17 years old) with normal visual acuities and no history of prematurity or neurological/ophthalmic disorders was also recruited for comparison.\nAutomated perimetry using the Humphrey Field Analyzer revealed a stable, bilateral visual field defect involving the inferior visual fields (Figure 1A). Inspection of the pattern deviation plot confirmed the presence of an inferior visual field defect with an apparent greater impairment on the left side. Record review confirmed that the bilateral, inferior visual field loss was non-progressive and identified as early as age 5; when the patient was first able to participate in formal visual field testing.\nAll imaging was carried out using a 3 Tesla Philips Achieva system and an eight-channel head coil. Conventional T1 weighted structural images were acquired using an MP-RAGE pulse sequence (TE 3.1 ms, TR 6.8 ms, flip angle 9 degree, 1 x 1x 1.2 mm voxel size). For white matter tract reconstruction, high angular resolution diffusion imaging (HARDI) was chosen given its superior ability in revealing intravoxel white matter fiber heterogeneity and delineation of multiple fiber orientations within an individual voxel (Tuch et al.,). HARDI images were acquired using a single shot EPI sequence (TE 73 ms, TR 17844 ms, 64 directions, Bmax 3000, Bmin 0, 2 mm isotropic voxel size). White matter fiber tracking and reconstruction were performed using DSI Studio software (http://dsi-studio.labsolver.org/) with diffusion decomposition and sparse solution of the fiber orientation distribution function (ODF). HARDI images were aligned to the anatomical data using boundary based registration (Greve and Fischl,). The optic radiations were defined using a two-seed approach. For each hemisphere, the thalamus (composed of the thalamus proper and the ventral diencephalon containing the lateral geniculate nucleus; Desikan et al.,) was used as the start seed, while the white matter adjacent to the pericalcarine cortex was used as the second seed. Termination criteria were based on a subject-specific threshold of quantitative anisotropy and an angle change of 75 degree, enabling the capture of the full extent of the optic radiations. Both T1-weighted and HARDI images were acquired in the same scanning session. HARDI images were acquired within a 22 min scan period.\nStandard T1-weighted MRI imaging of the CVI patient revealed markedly enlarged ventricles characteristic of PVL as compared to the age/gender matched control (Figure 1B). However, no details regarding the structural integrity of the optic radiations could be ascertained by standard MRI alone. By comparison, white matter reconstruction of the optic radiations obtained by HARDI revealed a generalized reduction in geniculo-striate projections in the CVI patient compared to the normal developed control (sagittal view; Figure 1C). Furthermore, the optic radiations along the superior bank qualitatively appeared to be markedly reduced than in the ventral bank, consistent with the inferior visual field deficit characterized on clinical examination. Finally, the marked reduction of optic radiations in the right hemisphere (compared to left) was also consistent with the laterality of the visual deficit suggested by perimetry findings.\nThe functional organization of occipital visual cortex was characterized using static retinotopic mapping techniques allowing for rapid and robust identification of early visual area borders (Rajimehr and Tootell,; Nasr et al.,). Boundaries between primary (area V1), secondary (area V2), and tertiary (area V3) visual areas were functionally identified in both hemispheres. Flashing high-contrast colored checkboard stimuli (8 Hz) were presented in sub regions of the visual field and two spatially complementary stimuli were contrasted: (1) a horizontal meridian wedge (8.6 radius and 30 angle) vs. a vertical meridian wedge (8.6 radius and 60 angle) to identify early visual area borders and (2) an upper-field wedge (8.6 radius, 15 angle) vs. a lower-field wedge (8.6 radius, 15 angle) to differentiate activation between the upper and lower visual field. Each pair of stimuli (i.e., meridians as well as upper and lower wedges) were presented in two runs of 16, 16-s blocks comprised of six blocks of each stimulus and four blocks of fixation per run. Retinotopy was acquired with a single-shot EPI sequence (TE 28 ms, TR 2000 ms, flip angle 90 degree, 3 mm isotropic resolution with no slice gap). Each run of the scan was 256 s in duration. For all retinotopic runs, the subjects were instructed to maintain fixation on a central 0.9 fixation stimulus throughout the run and respond using a button box when the central target changed its luminance (TR-wise probability of a luminance change = 30%). Fixation performance (detection accuracy and reaction time) was scored after the scanning session. Stimuli were viewed under binocular viewing conditions.\nAll structural and functional data were analyzed with FreeSurfer and FS-FAST packages (http://surfer.nmr.mgh.harvard.edu/). Using standard FreeSurfer methods (Fischl et al.,; Greve and Fischl,), the surface of each cerebral cortical hemisphere was extracted via image processing based on the anatomical gray-white matter boundary and computationally reconstructed as a 3D mesh of vertices. In order to permit visualization of multiple visual cortical areas, each cortical hemisphere was computationally inflated to reveal buried sulcal regions and an occipital lobe \"flat patch\" was created for each subject hemisphere by making cuts in the vertex mesh (along the calcarine sulcus and the anterior extent of the occipital lobe) and unfurling this mesh into a 2D representation (see Figure 2A for further details). Each functional run was rigidly registered to the anatomical data using gray-white matter boundary based registration (Greve and Fischl,). Functional data was motion corrected and spatially smoothed using a 3D Gaussian kernel (fwhm = 3.0), separately by run and by hemisphere. Voxel-wise statistical tests were based on a univariate general linear model (GLM), and the significance levels (inverse log p-value) were visualized on the inflated and flattened cortical surfaces.\nDorsal (d) and ventral (v) regions of interest (ROI) were identified in each hemisphere and in each participant using block-design retinotopic fMRI analysis (e.g., Nasr et al.,). Briefly, the V1/V2 border lies along the center of the vertical meridian response, as it runs both dorsally and ventrally, and the center of the horizontal meridian representation in the calcarine sulcus was used to define dorsal and ventral subdivisions in each cerebral hemisphere. Each ROI represents the diametrically opposed region of the visual field (e.g., dorsal V1 of the right hemisphere represents the lower-left quadrant of the visual field). It is important to note that identifying the boundaries between early visual areas permits us to define ROIs for V1 and V2, but leaves the anterior border of V3 undefined. Since the visual cortical areas just anterior to V3d and V3v (V3A and hV4) contain hemifield representations rather than quadrant representations, the quadrant analysis could be seriously contaminated if the anterior borders are not well localized. For this reason, we quantitatively examined the quadrant results only in areas V1 and V2.\nWe then determined the BOLD percent signal change to the upper visual field wedge (relative to passive fixation) and to the lower visual field wedge, within each ROI for each subject for each run. Since the dorsal parts of V1 and V2 are responsive to lower visual field stimulation and ventral parts are responsive to the upper visual field stimulation, this allowed us to create an in-field vs. out-of-field metric for each ROI and for each subject, normalized by the standard deviations of the blood oxygen level dependent (BOLD) signals. This in vs. out metric was computed as follows: \nWhere \"preferred\" is the BOLD percent signal change evoked by the preferred stimulus for each ROI (i.e., the upper visual field wedge in ventral areas and the lower field wedge in dorsal areas) and \"nonpreferred\" is the BOLD percent signal change evoked in the ROI by the other, nonpreferred wedge. Standard deviations in BOLD percent signal change were computed within subjects and across runs. The in vs. out metric was contrasted between the CVI and control subject for each visual quadrant ROI as a ratio. A ratio of 100 indicates that the CVI patient and the control demonstrate similar responsivity profiles, while a ratio less than 100 indicates that the representation of the upper/lower visual field is less strongly segregated in the CVI patient than in the control subject.\nBoth the CVI patient and the control subject were able to maintain adequate central fixation during the fMRI scans allowing for the identification of retinotopically specific cortical activation patterns (CVI patient fixation accuracy: 80%, mean reaction time 640 ms; control subject fixation accuracy: 58%, mean reaction time 729 ms). Functional MRI assessments resulting from the stimulation of horizontal and vertical visual field meridians were used to reveal the boundaries between visual cortical areas and the boundaries of early visual areas (i.e., V1-V3, see Figure 2A). These areas were robustly identified in each hemisphere in both the CVI and control participants suggesting that the overall organization of early visual areas is largely intact in the CVI patient despite the maldevelopment of geniculo-striate projections (compare upper and lower panels of Figure 2B). However, the upper and lower visual field responses showed the most marked difference in the CVI patient mirroring the visual field deficit identified by automated perimetry (described above). Specifically, activation within primary visual cortical representations of the lower visual field (V1d) in the right and left hemisphere of the CVI patient exhibited respectively only 21.5 and 22.2% of the activation observed in the same lower visual field representations in the control participant (Figure 2C). In contrast to those strongly attenuated for the lower visual field, cortical representations of the upper visual field (V1v) exhibited minimal differences in activation between participants (right hemisphere: 91.9% activation of control, left hemisphere: 89.1% activation of control). Again, this pattern is consistent with the inferior visual field deficit characterized by perimetry and the observed reduction in optic radiation tracts along the dorsal branch corresponding to the inferior visual field representation. Finally, in terms of laterality, a greater reduction in activation in the right lower visual field (V1d) compared to the left lover field (V1d) was also observed. This is further consistent with the lateralized visual field deficit in the left side as well as marked reduction in optic radiations observed in the right hemisphere. For comparison, we also examined regional activations in V2 and found a similar pattern to that of V1. Specifically, dorsal areas (lower field representations) exhibited much lower activations in the CVI subject as compared to control (right hemisphere: 33.1% activation of control, left hemisphere: 35.3% activation of control), while the ventral (upper field representations) were similar between CVI and control subjects (right hemisphere: 147.4% activation of control, left hemisphere: 93.7% activation of control). We further noted that the activation ratios between the CVI and control subjects were somewhat smaller in V1 than in V2 (approximately 22% compared to 34%, respectively). This result is consistent with the fact that V2 neurons have larger receptive fields than V1 neurons and thus V2d receives more upper field visual stimulation than does V1d (Zeki,; Smith et al.,).",
"gender": "Unknown"
}
] |
PMC4766290
|
[
{
"age": 56,
"case_id": "PMC2259370_01",
"case_text": "A 56-year-old man presented to our unit 6 days after he had a channeling TURP and bilateral orchidectomy performed at another centre. He presented with generalized colicky abdominal pain, abdominal distension and constipation. Though the symptoms started on the first day after the operation, they were not severe and he was discharged from the hospital three days postoperatively. There were associated vomiting, anorexia and hiccoughs, which all started on the fifth day after surgery. The urethral catheter was removed on the third postoperative day and he experienced a significant improvement in his urinary symptoms. He had no known history of hypertension or diabetes patient and there was no previous history of intra-abdominal operations\nClinical examination at presentation revealed mild pallor, fever (T-37.8 C), and bilateral peri-orbital and pedal swellings. The pulses were normal but blood pressure was 170/100 mmHg. The abdomen was distended but soft with no areas of tenderness. Percussion notes were tympanitic and the bowel sounds were hyperactive. Digital rectal examination revealed an enlarged nodular prostate and the rectum contained soft brownish stool. The absent testes and the healing scrotal wound were noted. There was no neuromuscular abnormality.\nHis hemoglobin was 11.2 g/dL; the white cell count was 10.8 x 109/L, (neutrophilia of 73%) and platelet count of 258 x 109/L. He had evidence of renal impairment: serum urea was 28.2 mMol/L (normal range: 2.5-6.5 mMol/L) and serum creatinine level was 744 mumol/L (53-106 muMol/l). He was hyponatraemic (Sodium 126 mMol/L) (135-145 mMol/L) and slightly hyperkalaemic (Potassium, 5.1 mMol/L) (2.9-5.0 mMol/L), Urinary specific gravity was normal. Abdominal radiographs revealed features of intestinal obstruction, with gaseous distension of the bowel especially of the small bowel with multiple air fluid levels and paucity of gas in the pelvis (see Figures 1 and 2). Abdomino-pelvic ultrasound scanning revealed bilateral moderate hydronephrosis, a thickened urinary bladder wall with irregularity in its lower segment and remnants of the prostate gland. Urine microbiology culture yielded growth of klebsiella pneumoniae, which was sensitive to ceftazidime and amoxicillin-clavulanic acid combination.\nIt was apparent that the patient had intestinal obstruction occurring after the Channel TURP with obstructive nephropathy. Initially, conservative management was instituted vis a vis nothing by mouth, intravenous fluids (normal saline alternating with 5% dextrose-saline), and intravenous antibiotics using a combination of ceftazidime and metronidazole. The gastro-intestinal tract was decompressed by passing a naso-gastric tube for continuous drainage. A size 18 Fr Foley urethral catheter was passed to monitor the patient's urine output and to decompress the upper urinary tract.\nThe patient's renal function improved significantly with the conservative management but the abdominal pain and distension persisted and got worse. On the tenth day of admission, he had an exploratory laparotomy. Findings at laparotomy were distended small bowel loops and multiple adhesions involving the dome of the bladder, the small intestine and the large omentum. Adhesiolysis was done and the intestinal loops were released. The postoperative period was uneventful and he was commenced on graded oral diet on the third postoperative day after which he moved his bowel on the same day. The renal status of the patient continued to improve and urethral catheter was removed on the tenth postoperative day, and the patient voided satisfactorily. The serum electrolyte and urea levels at discharge were all within normal ranges (Sodium, 135 mMol/L; Potassium, 4.4 mMol/L; Urea-4.8 mMol/L and creatinine - 88 muMol/L). The patient was discharged from the hospital on antihypertensive medications 22 days after admission. He was seen in the out patient department six months after discharge and his condition had remained satisfactory.",
"gender": "Male"
}
] |
PMC2259370
|
[
{
"age": 45,
"case_id": "PMC4501463_01",
"case_text": "This patient suffered from a high cervical spinal injury (C1/C2 fracture, traffic accident) resulting in flaccid quadriplegia and full ventilator dependency in May 2000, aged 45. Diagnostic phrenic nerve stimulation demonstrated bilateral diaphragm responses, allowing diaphragm pacing. In May 2001, the patient was implanted with intrathoracic phrenic stimulators (Atrostim , Atrotech, Finland). After 4 weeks of diaphragm reconditioning, complete ventilator weaning was obtained, the patient rapidly using diaphragm pacing 24 h a day and then doing so for several years. Decreased pacing efficiency was first noted in 2007, with the need to increase stimulation intensities to maintain tidal volume at the level needed to keep alveolar ventilation adequate (650-700 mL). The situation slowly deteriorated over the following years, with the appearance of dyspnoea in the sitting position, decreased tidal volumes, and partial followed by total loss of ventilatory autonomy leading to nocturnal, and then permanent ventilator dependency in 2012 (tidal volume 200-250 mL). Phrenic nerve function was verified several times, always with normal phrenic nerve conduction times and ample, and symmetrical diaphragm action potentials. A progressive decrease in tracheal pressure and abdominal movements following phrenic stimulation was noted. During this course, device replacement, aggressive correction of malnutrition and aggressive urologic management of chronic urinary tract infection (both liable to be responsible of muscle weakness and/or neuromuscular transmission impairment) were conducted without modifying the course of diaphragm pacing deterioration. In May 2011, high-resolution chest computed tomography revealed widespread vertebral fusion suggestive of ankylosing spondylitis (Fig. 1). This diagnostic had indeed been established prior to the accident having led to quadriplegia (HLA B-27 positive), the patient reporting the occasional use of non-steroidal anti-inflammatory drugs to control intermittent back pain before he became quadriplegic. It was concluded that the disease had evolved over years, the patient not perceiving pain because of the spinal lesion, and diaphragm pacing failure was attributed to thoracic ankylosis preventing diaphragm contractions to adequately inflate the rib cage. The patient died in May 2012 of severe pneumonia.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC4501463_02",
"case_text": "At age 15, this patient suffered from meningococcal meningitis complicated by acute cerebral oedema leading to compressive spinal cord ischaemia. Magnetic resonance imaging did not show spinal cord lesions below C3. Diagnostic phrenic nerve stimulation demonstrated bilateral diaphragm response, allowing diaphragm pacing. In September 2009, the patient was implanted with intradiaphragmatic phrenic stimulators (NeuRXDPS , Synapse Biomedical, Oberlin, OH, USA). After nine months (July 2010), diaphragm pacing was considered efficient, producing tidal volumes of 500 mL on average and achieving normocapnia (PaCO2 39 mmHg). One year later, tidal volumes had fallen to less than 250 mL and the patient was hypercapnic (PaCO2 51 mmHg) in spite of maximal stimulation intensities (25 mA). Phrenic stimulation induced-thoracic expansion had become almost undetectable. No device dysfunction was identified. Phrenic nerve conduction was normal, as was tracheal twitch pressure in response to bilateral phrenic stimulation. Over the same time frame, complex hormonal disorders led to massive weight gain (from 67 to 104 kg, body mass index 22.6-35.1 kg/m2), with an ulterior diagnostic of Klinefelter syndrome. Diaphragm pacing failure was attributed to excessive chest wall and abdominal weight preventing diaphragm contractions to adequately inflate the rib cage.",
"gender": "Unknown"
}
] |
PMC4501463
|
[
{
"age": 65,
"case_id": "PMC4352736_01",
"case_text": "A 65-year-old female patient presented to our emergency room with abdominal pain, nausea, vomiting, and pain radiating towards the back. The patient history included nothing specific other than diabetes mellitus (DM) for 20 years and cholecystectomy a year ago. She did not have a history of alcohol consumption and she was on subcutaneous insulin treatment twice a day. During the physical examination, the patient was observed to be in a confused state and her general state was poor; her blood pressure was 90/55 mmHg, heart rate was 132/min, body temperature was 38.3 C, and the respiratory rate was 28/min. Her abdomen was slightly distended and epigastric tenderness was detected. No rebound or guarding was observed. The laboratory parameters were as follows: Hb: 17.1 g/dL, Hct: 45.7%, WBC: 8.9 K/uL, PLT: 505 K/uL, sedimentation: 37/hour, CRP: 24 mg/dL, glucose: 255 mg/dL, urea: 28 mg/dL, creatinine: 1.6 mg/dL, AST: 57 U/L, ALT: 34 U/L, LDH: 1995 U/L, amylase: 212 U/L, lipase: 349 U/L, triglycerides: 2148 mg/dL, albumin: 2.3 g/dL, calcium: 6.5 mg/dL, and HbA1c: 9.6%. The blood gas analyses gave the following results: pH: 7.32 mm/Hg, pCO2: 44 mm/Hg, PO2: 72 mm/Hg, HCO3: 19.6 mmol/L, and lactate: 0.9 mmol/L. The other laboratory parameters were normal. The abdominal ultrasonography was interpreted in favour of AP. In the abdominopelvic contrast-enhanced computed tomography (CT), the gall bladder could not be observed (excised) and the pancreas was diffusely enlarged (Figure 1), while widespread increases of density and fluid retention were observed in the peripancreatic bilateral anterior renal fascia, splenic hilum, mesenteric adipose tissue, and the pelvic region. There was 19 x 18 mm necrosis area in the head of pancreas. Filling defects (thromboses) were observed in the splenic vein at the level of the tail of the pancreas. The patient's CT image shows the AP and splenic vein thrombosis (Figure 2). A central venous catheter was placed and the patient was prescribed blood glucose tests every six hours and insulin treatment for the regulation of her blood glucose levels. After the consultation with the infectious diseases department, the patient was started on 4 x 500 mg/day of imipenem. She was administered 4 x 5000 units of low molecular weight heparin through the subcutaneous route and infused intravenously 5 units of regular insulin along with each 1000 mL 5% dextrose fluid and lipid apheresis was performed once a day for three days. After the three times lipid apheresis, the triglyceride values declined to 829 mg/dL. In addition to the low molecular weight heparin, the patient was started on warfarin treatment and the dose was adjusted to keep the patient's INR value over 2. When the patient's general condition was observed to improve after the treatment, she was discharged with the recommendation of a low-fat diet and fenofibrate and warfarin treatment.",
"gender": "Female"
}
] |
PMC4352736
|
[
{
"age": 60,
"case_id": "PMC6136482_01",
"case_text": "A 60-year-old woman with arthralgia and back pain lasting for several months and recent metatarsophalangeal luxation of the left toe presented to the ambulatory unit of rehabilitation clinics. She was referred to the clinics as a patient with chronic pain syndrome. The patient had joint hypermobility since childhood, diagnosed as ligament laxity. In adolescence, she is remembered to be called \"a clumsy freak\" due to joint mobility.\nAt physical evaluation, marfanoid habitus with waxy, sagging skin and varicose veins in the feet was observed. Sclerae were bluish and eyelids dropping. In fingers and toes, spontaneous subluxation in all joints could be elicited. Elbows, knees, and all fingers were overextended. She had flat feet with a bilateral hallux valgus (Figure 1). She had scoliosis with prominent kyphosis. Lungs auscultation was characteristic of chronic obstructive pulmonary disease (COPD); the murmur of mitral valve prolapse was heard over the chest.\nOn the Beighton score, she received all (9) scores: passive apposition of the thumb to forearm and passive dorsal hyperextension of the metacarpophalangeal joint >90 on both sides were done with no strain (Figure 2); she was able to actively hyperextend both elbows and knees on both sides over >10 and flex her spine to the ground with palms placed on the ground without knee flexing. On Five-point Hypermobility Questionnaire, she answered \"yes\" to all questions. She remembered vividly contorting her body into strange shapes and being called names by other children. Genetic analysis showed a typical mutation consistent with the classical Ehlers-Danlos syndrome.\nIn the ambulatory unit, she received systematic, light, nonweightbearing, and proprioception exercises; she was referred to the occupational therapist for lower limb orthosis; she was taught relaxation techniques including mindfulness-based stress reduction and counselling support, though she was already familiar with cognitive behavioural therapy. She used regular anti-inflammatory drugs. She was referred to the plastic surgeon due to the wound on her foot, since sutures should be applied generously, without tension, in layers, and left in place twice as long as usual. She was already regularly followed by her cardiologist due to mitral valve prolapse.",
"gender": "Female"
}
] |
PMC6136482
|
[
{
"age": 30,
"case_id": "PMC9036379_01",
"case_text": "A 30-year-old man with a history of hypertrophic cardiomyopathy and chronic uncontrolled hypertension presented with chest pain and sudden onset of blurring of vision of the right eye with left hemiparesis approximately 16 hours after snorting cocaine. His blood pressure upon arrival to the emergency room was 185/115 mm Hg.\nThere was no history of trauma. Results of laboratory testing are displayed in Table 1, showing significant elevation in troponin T. Electrocardiography showed normal sinus rhythm. Cardiac angiography and echocardiogram showed an ejection fraction of 70% without significant abnormalities(Figure 1). The dissection was a non-flow limiting and was in a distal location. Magnetic resonance imaging of the brain revealed an ischemic stroke (restricted diffusion) in the right temporal-parietal junction and insula in the middle cerebral artery distribution (Figure 2). Computerized tomography angiography (CTA) of the head and neck (Figure 3) showed right internal carotid artery (ICA) occlusion.\nThe patient underwent left heart catheterization which revealed dissection of the distal right coronary artery involving the origin of posterior descending artery with thrombolysis in myocardial infarction (TIMI)-II flow (Figure 4). This was felt to be the causative lesion for the patient's chest pain and troponin abnormality. As the patient had already been started on aspirin and clopidogrel, intervention was undertaken with aspiration thrombectomy, balloon angioplasty, and subsequent stent placement in the distal right coronary artery into the posterior descending artery with restoration of TIMI-3 flow (Figure 5). He subsequently underwent cerebral angiogram showing complete occlusion of the right ICA. The occlusion had a tapering, \"flame-shaped\" appearance, approximately 1 cm distal to the origin of the ICA:consistent with dissection (Figure 6).\nThe patient underwent physical therapy and occupational therapy while in the hospital with resolution of his left hemiparesis. He was discharged home on day 5 of hospitalization. He underwent repeat CTA of the head and neck in 6 months which revealed persistent occlusion of the right internal carotid artery. He has not had any further signs or symptoms of coronary ischemia.",
"gender": "Male"
}
] |
PMC9036379
|
[
{
"age": 86,
"case_id": "PMC4531034_01",
"case_text": "An 86-year-old Filipino man presented to the emergency room for dyspnea at rest. His shortness of breath had worsened over the previous 2 days, and was associated with substernal dull chest pain and hemoptysis. Patient also reported a decrease in urine output and bilateral ankle swelling that had been worsening over the past 2 weeks. He had no history of recent travel, sick contacts or blood transfusion. Past medical history is significant for hypertension, chronic kidney disease stage III, gout, and COPD. He had no allergies. He had quit smoking 9 years ago, did not drink alcohol or use illicit drugs.\nThe patient was hospitalized for pneumonia 3 weeks before presentation, and was treated with intravenous cefazolin for 2 weeks for methicillin-sensitive Staphylococcus aureus bacteremia. On examination, the patient was tachypneic (respiratory rate 25/min), temperature 97.6 F, blood pressure 155/71, pulse 109 bpm, with a saturation of 99% on 3 liters via nasal cannula. The skin and conjunctiva were pale. There were bibasilar rales in the lungs and bilateral lower extremity pitting edema 2+; the remainder of the examination was normal.\nElectrocardiogram showed sinus tachycardia and nonspecific ST segment and T wave abnormalities. Chest radiograph showed bibasilar opacifications and bilateral pleural effusions. Furosemide was administered intravenously, sublingual nitroglycerin, and oral aspirin were given. Blood work was significant for hemoglobin of 8.3 g/dL (baseline 10), creatinine of 9.2 mg/dL (baseline of 1.67 GFR 39 mL/min/1.73m2), troponin of 0.6 and albumin 2.6 g/dL. Lower extremity duplex study showed right peroneal deep vein thrombosis and heparin infusion was initiated for possible pulmonary embolism and non-ST elevation myocardial infarction (NSTEMI). In addition, broad-spectrum antibiotics (vancomycin and meropenem) were initiated empirically. Urinalysis showed large blood, and red blood cell (RBC) casts were seen on light microscopy. Sputum staining showed epithelial cells and few white blood cells.\nTransthoracic echocardiogram revealed a left ventricular ejection fraction of 55%, with moderate mitral regurgitation and a small pericardial effusion. Ultrasonography of the abdomen revealed bilateral renal echogenicity, compatible with renal disease. The right kidney was measured to be 10 cm in length by 4.4 cm in width by 4.4 cm anteroposterior diameter. The left kidney measured 9.3 cm by 4.6 cm by 4.9 cm. Vascular flow was demonstrated within each kidney. Serology workup for rapidly progressive glomerulonephritis (RPGN) was sent.\nOn day 2 of the hospitalization, the patient became more tachypneic and fatigued necessitating oxygen supplementation with bi-level positive airway pressure. He was anuric (urine output 100 cc/24 hours) and was started on hemodialysis for hypervolemia; blood and urine cultures were negative. The patient had acute drop in hemoglobin (7 g/dL); heparin was stopped and he remained on acetylsalicylic acid and clopidogrel. On day 4, the patient was started on pulse steroids Solu-Medrol 1 g daily for 3 days. Patient's condition and thrombocytopenia had precluded kidney biopsy up to this point. On day 6, sputum culture showed heavy growth of Klebsiella oxytoca.\nRapidly progressive GN workup: hepatitis viral panel was negative. Hematological and immunological workup was normal including antinuclear antibody, anti-DNA, anti-glomerular basement membrane antibody, anticardiolipin IgG and IgM, cryoglobulin, anti-neutrophil cytoplasmic antibody (proteinase-3 AB <1.0, myeloperox AB <1.0), C3 and C4. Serum protein electrophoresis showed polyclonal gammopathy (gamma fraction 2.2 g). Rheumatoid factor titers were elevated 45 H (<14); elevated free kappa and lambda serum with normal ratio (1) (free kappa serum 205.8 mg/L [3.3-19.4], free lambda serum 205.0 mg/L [5.7-26.3]).\nOn day 7, the patient was intubated for impending respiratory failure and put on mechanical ventilation. Bronchoscopic examination revealed blood in both bronchial trees and alveolar hemorrhage and the patient was started on total plasma exchange with fresh frozen plasma on a daily basis (total of seven sessions); bronchoalveolar lavage cultures grew Streptococcus bovis and Aspergillus fumigatus and antifungal were added to meropenem.\nOn day 13, renal biopsy and staining with hematoxylin and eosin stain, Periodic acid Schiff stain, and Jones methionine silver stain revealed core of renal cortex contains 19 glomeruli, 18 of which are globally sclerotic and one of which has ischemic tuft retraction associated with tubular atrophy, interstitial fibrosis and a moderate chronic inflammatory infiltrate. There is moderate narrowing of small arteries and arterioles by intimal and medial sclerosis. The glomeruli appear enlarged with diffuse and global mild to moderate mesangial sclerosis forming segmental nodules. The glomerular basement membranes appear diffusely thickened with focal duplications. (Figure 1A) Superimposed on this nodular sclerosis, there is mild to moderate mesangial hypercellularity and segmental to global endocapillary proliferation (Figure 1B) including infiltrating neutrophils. (Figure 1C) There is endocapillary and focal extracapillary proliferative and exudative features: cellular/fibrocellular crescents; arteries and arterioles are narrowed by moderately severe intimal sclerosis; (Figure 1D) RBC casts (Figure 1E) and focal acute tubular injury. Figure 1F; the immunofluorescence (IF) findings of granular global mesangial and \"starry-sky\" pattern of glomerular capillary wall positivity for IgA and C3 (Figure 1G and H) support IgA-dominant post-infectious glomerulonephritis (IgA-PIGN) with endocapillary and focal extracapillary proliferative and exudative features associated with staphylococcal infection. Smoking-related moderate nodular glomerulosclerosis, (associated with longstanding smoking and COPD), focal subcapsular cortical scar with ischemic glomerulosclerosis, consistent with hypertensive arterionephrosclerosis, and moderately severe arteriosclerosis were also noted. On electronic microscopy, there was evidence of \"hump-shaped\" subepithelial deposits.\nThe hospital course was complicated by pneumonia, pulmonary edema, and hemorrhage. The patient remained anuric requiring hemodialysis. The patient expired on day 18 secondary to respiratory failure, hypoxia, and cardiac arrest.",
"gender": "Male"
}
] |
PMC4531034
|
[
{
"age": 22,
"case_id": "PMC7268156_01",
"case_text": "A 22-year-old female of Malay ethnicity presented to the haematology department with fever and left axillary swelling for a week. She has no past medical or family history. She is a non-smoker and does not consume alcohol. She works as a bank clerk.\nOn examination, she was pale. She had a left axillary swelling of 5 x 5 cm (Figure 1(a)) which was firm, non-tender with no discharge. Other systemic examinations were unremarkable with no presence of palpable lymph nodes or organomegaly.\nHer complete blood count revealed normochromic normocytic anaemia of 5.5 g/dL with leucocytosis at 22 x 109/L and thrombocytopenia at 30 x 109/L. She had no coagulopathy.\nThe peripheral blood smear (Figure 2(a)) and bone marrow aspirate (Figure 2(b)) showed presence of blasts, abnormal promyelocytes and faggot cells. The trephine biopsy microscopy (Figure 2(c)) showed a hypercellular marrow which comprised almost entirely of blast population expressing myeloperoxidase (MPO) but lacking CD34 and CD3 on immunohistochemistry (Figure 2(d)-(f)). Marrow flow cytometry revealed 69% cluster of aberrant myeloid cells expressing CD117, cMPO, CD13, CD33, CD38 but lacking CD34 and HL-DR. Marrow for molecular PML-RAR-alpha fusion gene t(15;17) (q22; q12) was detected by polymerase chain reaction (PCR). The left axillary swelling histology showed diffuse monomorphic infiltrates with neoplastic cells exhibiting fine nuclear chromatin and moderate rim of basophilic cytoplasm. On immunohistochemistry, the cells were positive for MPO (diffuse positivity), CD13, CD33, CD68 and CD117. The cells were negative for CD34 and HLA-DR. These findings were consistent with granulocytic sarcoma.\nShe was diagnosed as high-risk APML (Modified Sanz score 2017) with granulocytic sarcoma (GS). She was treated with dexamethasone prophylaxis for differentiation syndrome (DS) of 10 mg twice daily and triple therapy induction comprising of daily oral all-trans-retinoic-acid (ATRA) 45 mg/m2, intravenous arsenic trioxide (ATO) 0.15 mg/kg for a total of 25 doses and 3 doses of intravenous idarubicin. On day 14 of induction, she developed culture-negative neutropenic sepsis. She was in Type 1 respiratory failure. She was intubated and nursed at the intensive care unit. There was no evidence of alveolar haemorrhage. The chest radiograph (Figure 1(b)) revealed diffuse nodular pulmonary infiltrations. The computed tomography of the pulmonary arteries (Figure 1(c)) showed no features of pulmonary embolism. Serum galactomannan was not detected.\nShe was treated with antimicrobials in which she responded completely. She has completed her induction, consolidation and maintenance therapy. She has been in complete molecular remission for the past 2 years.",
"gender": "Female"
}
] |
PMC7268156
|
[
{
"age": 45,
"case_id": "PMC4246683_01",
"case_text": "In September 2006, a 45-year-old male underwent extraction of the upper left, first and second premolars at a dental clinic (Takamatsu, Japan). In March 2012, the patient identified a gingival swelling in the upper left premolar region and was referred to another general dental practitioner (Takamatsu, Japan). At that clinic, the patient underwent incision and drainage of the lesion following clinical diagnosis of a dental infection. However, there was no improvement following the treatment and thus repeat curettage of the lesion was performed. Following these treatments, the lesion continued to grow gradually. In July 2012, the patient was referred to Kagawa Prefectural Central Hospital (Takamatsu, Japan) with swelling and mild pain in the upper maxilla. The patient had no medical or surgical history. The patient smoked 20 cigarettes a day and has consumed two alcoholic beverages per week for the past 15 years. The patient's family history was noncontributory.\nExtraoral examination revealed marginal left-sided facial asymmetry and tenderness (Fig. 1A); however, the patient experienced no abnormal sensation in the left buccal area. The left submandibular and upper jugular lymph nodes were palpable and tender. The intraoral examination revealed a mass, 25x35-mm in diameter, located in the buccal and palatal aspect of the edentulous alveolus of the left maxilla, in the area between the second premolar and the first molar (Fig. 1B and C). The mucosal surface of the mass was rough and covered with small and protruding hemorrhagic papules, which were pink-red in color. On palpation, the mucosa surrounding the mass appeared to be normal and was not indurated. However, tenderness and bleeding were identified.\nA panoramic radiograph revealed a dome-shaped radiopaque mass with well-defined margins extending from the left maxilla to the maxillary sinus. The lesion caused the floor of the antrum to be elevated (Fig. 2). CT revealed a round cystic lesion, 30x40 mm in dimateter, which extended from the left maxillary alveolar region to the maxillary sinus (Fig. 3A and B). The floor of antrum was elevated by the cystic lesion and its margins were thickened (Fig. 3B and C). A section of the elevated sinus floor had been destroyed (Fig. 3C). 18F-fluorodeoxyglucose-positron emission tomography (FDG-PET) detected FDG uptake in the left maxilla [maximum standardized uptake value, (SUVmax), 12.4; Fig. 4A] and in two submandibular lymph nodes (SUVmax, 2.2). No abnormal FDG uptake that would have been indicative of another primary tumor or distant metastasis was detected on the FDG-PET images (Fig. 4B).\nFrom these imaging results, the lesion was diagnosed as a primary malignant tumor arising from the left maxilla. The tumor was clinically staged as T4aN2bM0 in accordance with the 2009 Union for International Cancer Control system. An incisional biopsy was performed and indicated that the lesion was a PIOSSC. The patient underwent a subtotal maxillectomy of the left maxilla, and left radical neck dissection under general anesthesia and the diagnosis was histopathologically determined following surgery.\nThe histopathological examination of the excised specimen revealed tumor cells consisting of atypical squamous epithelial cells with enlarged nuclei, which had invaded the submucosal connective tissue and bone (Fig. 5A-C). The tumor was accompanied by necrosis inside the tumor nests and scattered mitotic figures (Fig. 5D and E). These features indicated a poorly differentiated SCC. Inside the lesion, there was no clear evidence of the presence of cysts. However, the tumor had progressed to the surface from deep within the tissue, no atypical cells were observed in the epithelium at the boundary of the ulcer, and there was no contiguity between the oral mucosal epithelium and the maxillary sinus mucosa. No histological metastasis to the lymph nodes was identified. Based on these findings, the lesion was finally diagnosed as PIOSCC.",
"gender": "Male"
}
] |
PMC4246683
|
[
{
"age": 34,
"case_id": "PMC6721507_01",
"case_text": "A 34-year-old previously healthy male presented with high grade fever associated with constitutional symptoms of five days' duration. He was complaining of right hypochondrium pain and tea-coloured urine for two days associated with yellowish discolouration of the eyes. He had severe loss of appetite to food and water, but his bowel habits had been normal throughout the illness. On admission, he was afebrile with normal vital signs but was deeply icteric. His abdominal examination revealed a tender, mild hepatomegaly while his cardiovascular, respiratory, and nervous system examination was normal.\nHis full blood count revealed a white cell count of 3 x 103 muL with a platelet count of 116 x 103 muL. His aspartate aminotransferase (AST) and alanine aminotransferase (ALT) were 5162 U/L and 3964 U/L, respectively. Initial total bilirubin was found to be 61.7 mumol/L with an increased direct fraction. His prothrombin time/international normalized ratio (PT/INR) and serum protein were normal throughout the illness. His dengue IgM antibody done by chromatographic immunoassay was positive on the 6th day of the illness. Hepatitis A IgM antibody done by the ELISA technique was positive on day 6 of the illness, while hepatitis A IgG antibody was negative. Other investigations done during the hospital stay are summarized in Table 1.\nDuring the course of the illness, the patient was closely monitored for features of development of liver failure while continuing with the precritical monitoring of the dengue fever. The patient's hospital stay was uneventful, and he did not develop features of acute liver failure or features of plasma leakage as in DHF. He was discharged on day 10 of the illness. On follow-up, his AST, ALT, and bilirubin have become normal.",
"gender": "Male"
}
] |
PMC6721507
|
[
{
"age": 25,
"case_id": "PMC4352650_01",
"case_text": "A 25-year-old male presented with progressive weakness of both lower limbs since 3 months. He had headaches and vomiting 1-week prior to admission. On neurological examination, the patient had spastic paraparesis. Both fundi revealed papilledema. Magnetic resonance imaging demonstrated a well-defined lobulated intraventricular mass lesion occupying lateral ventricles, third ventricle, fourth ventricle and extending into cisterna magna through foramen of magendi [Figure 1 and 2]. The tumor literally formed a cast of the entire ventricular system. The tumor was isointense on T1-weighted images, hyperintense on T2-weighted images and significant flow voids were noted. On contrast administration, heterogeneous enhancement was seen. The patient underwent right fronto-parietal parasagittal craniotomy with transcallosal radical excision of the tumor within the lateral ventricles. The tumor was soft, easily suckable and extremely vascular. Haemostasis was achieved with great difficulty. The patient deteriorated in sensorium within a few hours after surgery and had to be put on ventilatory support. Postoperative computed tomography scan demonstrated postoperative changes with residual tumor in third and fourth ventricle. There was no hydrocephalus. The patient was treated conservatively with decongestants and anticonvulsants. The patient succumbed on second postoperative day. Histological examination confirmed the lesion to be a central neurocytoma.",
"gender": "Male"
}
] |
PMC4352650
|
[
{
"age": 33,
"case_id": "PMC10310325_01",
"case_text": "A woman, 33 years old, married, merchant, 8 years of schooling, Jehovah's witness, from the countryside of the state of Para/Brazil, attended the Gaspar Vianna Clinical Hospital Foundation in May/2015 complaining of difficulty to walk, dyspnoea at rest, cough with hemoptoics sputum and syncope.\nSince the age of 16, she had dyspnoea and fatigue, with worsening of symptoms after the first pregnancy, at 17 years. In the same period, she started to experience frequent episodes of headache, palpitations and hypertension, a condition that was treated as anxiety attacks. At the age of 32, she reported loss of motor strength, drowsiness, fatigue and indisposition to daily activities.\nAfter worsening the condition, in 2015, at the age of 33, she sought specialised care in Belem, the capital of the state of Para, being referred to the reference institution in cardiology of the public network of the region with a clinical picture of acute pulmonary oedema with aetiology yet to be determined.\nOn physical examination, she demonstrated tachypnoea, skin pallor (++/+++), fine basal rales and moderate mitral systolic murmur. She had no diagnosis of primary heart disease and denied exposure to chemicals and toxic materials.\nShe underwent transthoracic echocardiography (Figure 1), which showed cavitary enlargement of the left atrium, moderate to important mitral stenosis with mass adhered to the anterior leaflet, a systolic function of the left ventricle preserved at rest and mild aortic and tricuspid insufficiencies. Based on these findings and epidemiology, the hypothesis that it was a benign tumour called myxoma was raised.\nShe underwent urgent cardiac surgery at the institution for complete removal of the lesion or R0 resection of an adipose nodule encapsulated in the wall of the left atrium measuring 6.0 cm, in its largest diameter, which obstructed the mitral valve.\nAnatomopathological analysis revealed negative microscopic margins for tumour. The morphology described was myxoid fusocellular tumour with cellular anaplasia, and the immunohistochemical study with desmin (Figure 2) showed that the neoplastic cells were positive for D33 and smooth muscle actin 1-4; and negative for CD34, AE1/AE3, FSD and protein S100; findings compatible with undifferentiated high-grade LMS in the left atrium.\nThe young woman was subsequently referred to the oncology centre in the state of Para/Brazil, where the initial proposal was to perform five cycles of adjuvant chemotherapy, therapy administered every 21 days, with Gemcitabine (900 mg/m2/day) - 1,620 mg (days 1 and 8) and Docetaxel (75 mg/m2/day) - 135 mg (day 8), in addition to receiving the granulocytic colony-stimulating factor (days 9-13). However, before the third cycle, she presented adverse effects, such as myalgia (grade 1), asthenia (grade 1), mucositis (grade 1), nausea (grade 1), diarrhoea (grade 2) and arthralgia (grade 2). It was necessary, from the third cycle, to increase the chemotherapy interval to 28 days and reduce the initial dose of Docetaxel by 15%, remaining 63 mg/m2/day or 114 mg, until the fifth cycle.\nConcomitant to chemotherapy, she performed three-dimensional conformal radiation therapy, 25 sessions, in the cardiac area, with a total of 50 Gr in 25 phases of 2 Gr/day or PTV 200 cGy/day and a total of 5,000 cGy, in the period from January 4 to 2 March 2016.\nAfter these sequences of treatments with post-surgical radiotherapy and chemotherapy, no evidence of local or systemic oncological disease was detected, proven by staging tests. However, the patient presented cardiac sequelae, with moderate symptoms of arrhythmia and heart failure, well controlled with the use of medication: Enalapril, Carvedilol and Ancoron.\nIn 2018, she performed a diagnostic investigation of breast and lung nodules, excluding malignant neoplastic processes.\nIn 2020, 5 years after diagnosis and treatment, the patient remained in complete remission, in follow-up with the multiprofessional oncology team. She used medications for systemic arterial hypertension, diabetes mellitus, heart failure and arrhythmia.",
"gender": "Female"
}
] |
PMC10310325
|
[
{
"age": 0,
"case_id": "PMC5143702_01",
"case_text": "An eleven-month-old boy came to our genetic clinic with the complaints of difficulty in breathing. He was second in birth order of second degree consanguineous couple at term after normal vaginal delivery with birth weight of 3 kg. Baby was hospitalized for 5 days for delayed cry at birth. His mother has history of epilepsy and was on sodium valproate since last 10 years. She had taken 1000 mg of valproate in two divided doses throughout pregnancy. Baby has global developmental delay as there is no neck holding and no speech or interaction with parents at 11 months of age. His weight, length, and head circumference were 5 kg (less than 3rd centile), 67 cm (less than 3rd centile), and 40.2 cm (less than 3rd centile), respectively. Facial examination revealed bifrontal prominence, high forehead, left epicanthal fold, depressed and broad nasal bridge, upturned nares, prominent philtrum, thin upper lip, posterior cleft palate, and bilateral low set ears (Figure 1). Limb examination detected shortening of left forearm, absent thumb, ulnar deviation at wrist and contracture of 1st, 2nd, and 3rd fingers at PIP joints of left hand (Figure 2), and rudimentary thumb with contracture at proximal phalangeal joint of fingers of right hand. Overriding of toes was present on right foot. There was no hepatosplenomegaly nor were there any neurocutaneous stigmata. Genital examination showed absent testis on left side. His body tone was normal with normal reflexes. X-ray hands were detected with absent radius and with absent thumb bone on left side (Figure 3). Complete blood counts, renal function tests, liver function test, and hearing evaluation were normal. Ultrasonography abdomen showed presence of left testis in inguinal canal. 2D echocardiography was suggestive of ostium secundum atrial septal defects of 1.6 mm size. A diagnosis of fetal valproate syndrome was made on the basis of antenatal history of valproate intake, facial dysmorphism, radial ray defect, cardiac defect, and associated genital anomaly.",
"gender": "Male"
}
] |
PMC5143702
|
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