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{
"age": 75,
"case_id": "PMC10601776_01",
"case_text": "A 75-year-old, nondiabetic, non-hypertensive male was diagnosed with a stage III (T3N1) transverse colon carcinoma, in November 2011. He had open surgery, an extended right colectomy, with an ileo-transverse anastomosis and the histopathological findings indicated a moderately differentiated adenocarcinoma colon with lymphovascular invasion. He received 6 months of adjuvant chemotherapy with CAPOX from January to June 2012. During the follow-up, the contrast-enhanced computerized tomography abdomen done in June 2012 and the colonoscopy done in November 2012 were found to be normal. In December 2014, positron emission tomography-computed tomography (PET-CT) revealed a nodule in the apico-posterior segment of the left upper lobe of the lung (14 x 10 mm) with several FDG avid mesenteric lymph nodes and non-FDG avid subcapsular hypodensity in segment VIII of the liver. The patient did not agree to the invasive procedure and continued diagnostic follow-up with PET-CT. Later in June 2016, PET-CT showed an interval progression of the lung lesion with stable liver lesions. The patient underwent a VATS resection of the lesion, segmentectomy of the left upper lobe, and histopathological results revealed metastatic adenocarcinoma with immunohistochemistry suggestive of gastrointestinal origin. This was followed by 8 cycles of CAPOX (oxaliplatin 130 mg/m2 day 1 and capecitabine 1,000 mg/m2 day 1-14, q 3 weekly) between August 2016 and January 2017. PET-CT after 8 cycles of CAPOX showed postoperative changes without any metabolically active lesions anywhere, suggesting local recurrence or distant metastasis. PET-CT done in July 2017 showed a recurrence with FDG avid nodular opacity adjacent to the fibrotic band and the surgical suture. The patient declined an FNAC/biopsy and received stereotactic body radiation therapy for the lung lesion in September 2017. Later in November 2017, PET-CT showed a few mildly FDG avid right common iliac lymph nodes along with stable lung nodule. Due to the progression of the disease and the need for alternate systemic therapy, a mutational analysis was conducted on the tissues from the right common iliac vessels using next-generation sequencing. Although KRAS exon 2 mutation was present, BRAF and NRAS were not detected.\nThe patient failed to show up for the next 6 months and came to see us in June 2018 with complaints of ongoing significant weight loss, severe fatigue, and the Eastern Cooperative Oncology Group (ECOG) performance status (PS) of 2. The PET-CT showed a progression of the disease (Fig. 1a). Microsatellite instability screening on the biopsy blocks showed MSI-H with a combined loss of PMS2 and MLH1 (defective mismatch repair). Based on the molecular profiling and clinical judgment a choice of combination therapy was made and the patient was started on pembrolizumab (200 mg, q 3 weekly), bevacizumab (10 mg/kg, q 3 weekly), and capecitabine (1,000 mg twice daily x 14 days) in September 2018. A stable disease was revealed by periodic PET-CT scans carried out after the initiation of combination therapy. Patient weight was maintained, fatigue improved and the ECOG PS also improved to 1. The patient remained on a stable disease for 18 months, and the PET-CT in March 2020 showed an unconfirmed progressive disease according to iRECIST criteria. The patient continued with the planned treatment and the same medical condition was maintained for the following 40 months. Due to recurrent loose stools and stable disease status, capecitabine was discontinued in April 2023, but the patient continued to take pembrolizumab and bevacizumab. After 75 cycles up until June 2023, the patient remained in residual metabolic disease status with no new lesions (Fig. 1b-d). The patient is alive with good PS, and quality of life after nearly 5 years of personalized treatment approach based on molecular profiling. The patient maintains clinical benefits with an ECOG PS of 1, a stable weight, and no significant fatigue or any other adverse drug reaction. Figure 2 depicts a timeline that summarizes the main events of the case. The CARE Checklist has been completed by the authors for this case report and is attached as online supplementary material (for all online suppl. material, see https://doi.org/10.1159/000533760).",
"gender": "Male"
}
] |
PMC10601776
|
[
{
"age": 1,
"case_id": "PMC11023438_01",
"case_text": "Of these participants, 61.8% identified as female, 81.3% identified as Caucasian (with 5.3% African-American, 2.1% Asian, 8.5% Hispanic, .4% Native American, and 2.5% other ethnicity), and the average age was twenty-one years old (range 18-71, SD = 4.55). The majority of participants identified themselves as identifying with the Republican Party (40.3%), followed by Democratic Party identifiers (35.3%), as independent (15.2%), Libertarian Party (6.7%), Green Party (.7%) and other (1.8%). Random assignment of participants to the different treatments was balanced (unedited video/laughter-in/control [n = 96], laughter faded out [n = 95], and laughter removed [n = 92]) across the three conditions. When tested for randomness in assignment to the treatment condition, we found no statistical bias (all p-values = ns) for sex, ethnicity, age, party identification, and political ideology (social, economic, overall conservative-liberal).\nPrior to the taking part in the protocol, participants were asked to provide basic demographic information (age, sex, ethnicity), whether they were registered to vote, the political party they best identify with and their attitudes towards the main US political parties, as well as their own political ideology. At this point, participants were randomly assigned to one of the three different treatment categories (i.e., control condition, laughter faded out or no laughter).\nImmediately after the video clips were viewed, participants were first asked to describe their thoughts on the video, how strongly they felt in reference to different emotions at that moment (anxious, proud, angry, reassured, fearful, irritated, disgusted, sad, and happy) on a 0-10 (not at all to extremely). They were then asked their evaluation of the reporter, Leslie Stahl, in terms of their overall impressions of her, as well as how credible, appropriate, and likable she was on a seven-point scale. These items were then combined into an additive index (Cronbach's a = .873). A final measure, that of how aggressive Stahl was perceived to be, due to weak correlations with the other measures, was analysed separately.\nParticipants were then asked to evaluate Ronald Reagan's leadership traits in terms of his competence, which was based upon measures of how sincere, aggressive, strong, active, competent he appeared to be (Cronbach's a = .779); additional measures considered a scale of his warmth with questions regarding how intelligent, caring, trustworthy, agreeable, and warm (Cronbach's a = .928) he appeared during the news story. Responses regarding evaluation of both Leslie Stahl and Ronald Reagan ranged from \"Not at all\" to \"Extremely\" on a seven-point (0-6) scale. Finally, to evaluate whether participants noticed the treatment, we asked \"How believable did you find the video clip to be?\" on the same seven-point scale. Throughout the reported statistical tests an alpha level of >0.05 is designated as n/s.\nThe second study utilizes three edits that totalled just under six seconds (5.46/100s = 2.93+.83+1.7) with a five condition between-subjects design. The first condition presented unedited video as a control with participants seeing what the 1984 CBS news viewers saw. The second replication treatment removed all three observable audience responses of laughter completely, with no noise from the video during the edits leading to the treatment effect 5.46 seconds of the total video (344.83s).\nThe next three conditions involved the removal of laughter from the three specific humorous comments. The third treatment, taking place from 3:19:02 until 3:21:25 of the video, showed Reagan responding to a heckler with the comment \"I'll raise his taxes\" eliciting loud laughter followed by mixed cheering and applause. The fourth treatment involved the removal of less than a second of laughter from a small group of individuals and occurred from 3:26:29-3:27:21 of the video when a seated Reagan quipped \"I never get good reviews from (the Russian news agency) TASS\" after shaking his head. The final treatment condition saw Reagan use self-deprecatory humour to deflect an aggressive journalist's question, leading to brief laughter at 3:41:26-3:43:03 of the video.\nA power analysis using G*Power was carried out to determine sample size. Here, the traditional power estimation parameters for the least explained variable, the trait of competence, (1 -beta err probability = 80%; alpha error probability = .05; effect size of f = .136). Findings based upon the effect likely, given the means and standard deviations uncovered in experimental study one, suggests a sample size of 650 participants would be required.\nParticipants were recruited using a snowball sampling approach in which upper-division undergraduate students received course credit for taking part in and recruiting participants. To better reflect the general population, older participants were systematically recruited, leading to a more age diverse sample. A total of 1041 individuals entered the study that lasted from November 16, 2020 to November 11, 2021; of those 315 did not spend at least seven minutes (420 seconds) in the study and were removed as per the previous study parameters. An additional 60 participants were removed due to their not responding to the open-ended prompt and a further 15 for not answering any post-treatment questions, leaving a total of 651 participants in the study. All ethical considerations, including consenting of the participants were identical to that reported for study 1.\nOf those taking part, 61.4% identified as female, 83.3% identified as Caucasian (with 3.7% African-American, 0.5% Asian, 7.5% Hispanic, 2.6% Native American, and 2.3% other ethnicity); the average year of birth was 1982 old (range 1934-2005, SD = 16.3). The majority of participants identified themselves as identifying with the Democratic Party (38.9%), followed by Republican Party identifiers (33.3%), as independent (16.7%), Libertarian Party (3.9%), Green Party (1.4%) and other (5.6%). Random assignment of participants to the different treatments was balanced. We first replicated study 1 by having the unedited video control condition [n = 119] and the treatment condition with all laughter removed [n = 139]. The other three conditions considered the effect of removing individual laughter events, with the first removing laughter from Reagan's response to a heckler [n = 126], the second removing small group laughter [n = 131], and the third removing group laughter in Reagan's response to journalistic aggression [n = 136]. When tested for randomness in assignment to across the five treatment conditions, we found no statistical bias (p = ns in all cases) for sex, ethnicity, age, party identification, and political ideology (social, economic, overall conservative-liberal).\nAs was the case with the first experimental study, participants were asked basic demographic questions (age, sex, ethnicity), as well as questions about whether they were registered to vote, the political party they identify with and self-reported political ideology. Additionally, they were asked to state how familiar they were with President Ronald Reagan, especially as this more externally valid sample had a greater distribution of ages and experience with Reagan, potentially influencing response. The distribution of participants was therefore examined as a separate, exploratory, and hypothesis-generating model with this variable as a moderator.\nHowever, as the first experiment suggested differences in response to the video treatments, participants were asked to state their feelings both prior to and immediately after the presentation of the stimuli in terms of their emotions at that moment (anxious, proud, angry, reassured, fearful, irritated, disgusted, sad, and happy) on a 0-10 (not at all to extremely) scale. The evaluation of perceived charisma was based upon whether \"This leader...\" \"moves people toward a goal,\" \"has a vision,\" \"inspire dares to take risks,\" and \"elicits a feeling of involvement in me.\". The resulting scale showed strong reliability (Cronbach's a = .865).\nIn line with the first experimental study, participants were asked to evaluate the reporter, Leslie Stahl, based upon their overall impressions of her, as well as how credible, appropriate, and likable she appeared in this video (Cronbach's a = .919). Participants were also asked to evaluate Ronald Reagan's leadership traits in terms of his competence, based upon measures of how sincere, aggressive, strong, active, competent he appeared to be (Cronbach's a = .826). We also consider perceptions of his warmth with questions regarding how intelligent, caring, trustworthy, agreeable, and warm he appeared to be during the news story (Cronbach's a = .908). All these were measured on a seven-point (0-6) scale ranging from \"Not at all\" to \"Extremely\".",
"gender": "Female"
}
] |
PMC11023438
|
[
{
"age": 50,
"case_id": "PMC10830134_01",
"case_text": "A 50-year-old male, with no medical or surgical history, presented to the ER with a history of abdominal pain for two days. Pain started in the right lower area of the abdomen, and then became generalized all over the abdomen. Pain was constant, severe, and associated with anorexia, nausea, several episodes of vomiting, constipation, and abdominal distension. On examination, he was tachycardiac, with a distended abdomen, diffuse tenderness, and guarding all over.\nInvestigations showed leukocytosis (white blood cells (WBC): 12,000/microL). The CT scan of the abdomen and pelvis showed perforated appendicitis with an abscess and evidence of few free air pockets within free fluid in the abdomen and pelvis (Figures 1, 2).\nThe patient was immediately taken to the operating room for an exploratory laparotomy. A large amount of free purulent fluid was suctioned. The appendix was perforated at the tip and surrounded by a mass containing an abscess. The appendix was successfully removed, the abscess was drained, the abdomen was washed, and a drain was placed in the right lower abdomen. The patient was transferred to the surgical ward in stable condition.\nOn postoperative day two, he started to have right scrotal pain and swelling. On examination, he had mildly tender right hemiscrotal swelling with mild erythema. His WBC had significantly increased to 20,000/microL. The scrotal ultrasound (US) showed increased blood flow to the right testicle, with fluid collection around the right testicle (Figure 3).\nThe initial clinical impression was right epididymo-orchitis with reactive hydrocele. The patient was conservatively treated with IV antibiotics. His WBC continued to rise and reached 23,000/microL on postoperative day four. The pus culture, which was taken intraoperatively from the appendicular abscess, showed no growth. The patient tolerated a diet; his abdomen was soft and lax, the wound was clean, and the abdominal drain output was serous and minimal. The decision was taken to change the antibiotic to a wider-spectrum antibiotic.\nHis WBC improved and decreased to 11,700/microL on postoperative day seven, but he continued to complain of right scrotal swelling and pain. The scrotal US was repeated, and it showed loculated turbid fluid collection surrounding the right testicle with an internal thick hyperechoic septation. The findings were suggestive of a right-sided scrotal abscess (Figure 4).\nThe decision was taken to take the patient to the operating room for right scrotal exploration, and the patient agreed to surgery. Intraoperatively, it was found that pus had collected within the tunica vaginalis, which was multiloculated. About 50 ml of pus was drained, and debridement was done on the necrotic sloughs of the tunica vaginalis. The right testicle was viable, and no testicular abnormality was seen except for the attached superficial slough tissue, which was removed; plication was done on the remaining part of the tunica vaginalis; and a drain was placed in the right hemiscrotum. Pus was sent for culture and sensitivity.\nPostoperatively, the patient did well; his WBC had been normalized to 8,100 /microL, drain output was nil, the drain was removed on postoperative day two, and he was discharged home in good condition. The pus culture, which was taken intraoperatively from the scrotal abscess, showed no growth.",
"gender": "Male"
}
] |
PMC10830134
|
[
{
"age": 63,
"case_id": "PMC10656195_01",
"case_text": "A 63-year-old male with history of bicuspid aortic valve, ascending aortic aneurysm, chronic obstructive pulmonary disease, diabetes mellitus, hypertension, obesity, and previous tobacco abuse developed moderate aortic valve stenosis. Preoperative echocardiography revealed an aortic valve mean gradient of 22 mm Hg with mild aortic insufficiency, velocity of 3.1 m/sec, and an aortic valve area of 1.1 cm2. Computed tomography imaging demonstrated a 5.2 cm ascending aorta which had grown 5 mm over the previous 12 months. Preoperative coronary angiogram showed a 90% right coronary lesion.\nThe patient underwent uneventful aortic valve replacement with a 23 mm Edwards Inspiris valve, replacement of the ascending aorta with a 30 mm Gelweave graft, and a single bypass with a saphenous vein graft to the posterior descending artery. The patient was weaned off cardiopulmonary bypass with low-dose norepinephrine and epinephrine. The patient was extubated on postoperative day 0 but required low-dose norepinephrine for persistent vasoplegia.\nOn the morning of postoperative day 1, he went into cardiac arrest, requiring CPR and reintubation. Electrocardiogram demonstrated ST elevations in leads V1 and V2 (Figure 1), while transesophageal echocardiogram (TEE) revealed right ventricular and left ventricular inferolateral and apical wall hypokinesis (Supplement 1) with an estimated left ventricular ejection fraction (LVEF) of 30%. The patient had subsequent return of spontaneous circulation but continued to have multiple rhythm changes with intermittent loss of pulse. Given his continued hemodynamic instability and concerns for cardiac ischemia, the decision was made to initiate femoral-femoral VA-ECMO to facilitate left heart catheterization. Immediate repeat coronary angiogram showed a patent saphenous vein graft to the right coronary artery; however, all the native coronary vessels were severely and diffusely narrowed by spasms (Figures 2 and 3). Nitroglycerin injected directly into the left main coronary artery transiently resolved the vasospasm (Figure 4) with improvement in left ventricular function; however, these effects were transient; therefore, VA-ECMO was continued, and an Impella 3.5 was placed across the aortic valve to help wean vasopressor requirements.\nOn postoperative day 3, with full mechanical support and intravenous calcium channel blockers, repeat imaging was consistent with biventricular recovery (Supplement 2), so the patient was decannulated from ECMO. The patient was ultimately discharged home on postoperative day 17 in stable condition without further complications. On postoperative day 24, outpatient TTE revealed ventricular recovery with an LVEF of 55% with no aortic insufficiency, an aortic valve mean gradient of 13 mm Hg, a maximum gradient of 27.5 mm Hg, velocity of 2.62 m/sec, and an aortic valve area of 1.6 cm2. The ascending aorta above the sinotubular junction had a diameter of 3.2 cm.",
"gender": "Male"
}
] |
PMC10656195
|
[
{
"age": 14,
"case_id": "PMC11060835_01",
"case_text": "A 14-year-old girl was diagnosed with a massive tumor overlying the left pulmonary apex during a close examination of the chest trauma (Fig. 1A). Chest computed tomography revealed a 12-cm-sized chest wall tumor surrounding the second left rib, extending from the first to the fourth rib and abutting the subclavian artery (Figs. 1B and 1C). Microscopically, the tumor was reticulated with spindle-shaped or stellate tumor cells with eosinophilic cytoplasm accompanied by myxoid stroma. The pathological diagnosis was benign myxoid neurofibroma (Fig. 2A). As the tumor was benign and in a young patient, the surgical strategy was to minimize chest wall resection to a 1-2 cm tumor margin and preserve the first rib to preserve upper limb function as much as possible. The axillary incision approach was chosen because it provided a good view of the first rib and subclavian artery in contact with the tumor and preserved the latissimus dorsi and rhomboid muscles. The patient was placed in the right lateral decubitus position and a 20-cm axillary incision was made along the mammary line. The pectoralis minor muscle, which was extending compressively into the tumor, was dissected at the rib attachment site. With traction on the wound edge and the movement of the pectoralis major muscle and scapula, a panoramic view of the lateral aspect of the upper ribs to the first rib was obtained (Fig. 2B). A good anterior view of the sternal transition of the costal cartilage was obtained, and the anterior margins of the third and second ribs were sequentially dissected, while preserving the internal thoracic artery and vein. The tumor could be detached from the first rib while keeping the tumor and first rib in good view (Fig. 2C and Supplementary Video 1; The supplementary file is available online.). Next, the head of the rib and ligaments of the transverse costal joint were dissected up to the second rib under thoracoscopy with electrocautery to increase the mobility of the resected chest wall (Fig. 2D). The second and third ribs were then detached from the transverse process outside the bony thorax while moving the resected chest wall with increased mobility. Finally, the intercostal tissue under the dorsal first rib was dissected and chest wall resection was completed. Because the patient was in the growth period, chest wall reconstruction using a mesh was not performed. The operative time was 296 min, the volume of blood loss was 194 mL, and the postoperative course was uneventful. Pain numeric rating scale (NRS) values were recorded three times daily, postoperatively. The worst pain intensity since surgery was NRS value 7.0 on the first postoperative day. However, pain decreased quickly after removal of the chest tube, and the NRS value on postoperative day 7 was 0 to 2. The patient was discharged on postoperative day 10. Six months postoperatively, the patient was able to vertically elevate the affected upper extremity and play volleyball. The axillary incision was not visible from the front and no deformity of the breast was seen (Figs. 3A and 3B). A chest radiograph obtained 6 months after the operation revealed a well-expanded left upper lung (Fig. 3C). Sensory deficits associated with nerve injury were limited to sensory deficits in the axillary region of the area innervated by the intercostal brachial nerve. Written informed consent was obtained from the patient for publication of this case report and accompanying images.",
"gender": "Female"
}
] |
PMC11060835
|
[
{
"age": 56,
"case_id": "PMC10578368_01",
"case_text": "A 56-year-old woman with type 2 diabetes for more than 30 years and treated with insulin for three years was evaluated at the diabetes clinic for routine follow-up. She also suffered from psoriasis for the last 22 years, for which she was managed with methotrexate 20 mg weekly, local calcipotriol 50 mug/g one application daily, and betamethasone dipropionate 0.05% twice daily. Eight months earlier, methotrexate was permanently withdrawn because of liver injury. Concerning her diabetes, lispro was used according to preprandial glucose values amounting to a total daily dose of 8 IU. A total of 14 IU of glargine was administered to cover the basal insulin requirements. Her other medications were atorvastatin 20 mg daily, aspirin 80 mg daily, and metformin 850 mg three times daily.\nWe noticed a flare-up of the patient's psoriasis including involvement of her nails, skin, localized at elbows, gluteal, lumbosacral, and submammary after withdrawal of methotrexate due to disturbed liver function tests. These plaques developed 48 to 72 hours after injection both with insulin lispro and glargine. In addition, she developed new sharply delineated, erythematous, oval, and scaly plaques of various sizes at the insulin injection sites on the lower abdomen (Fig. 1) and both anterior proximal thighs (Fig. 2).\nBiological assessment revealed glycated hemoglobin A1c of 7.0%. Both prandial and basal insulin requirements remained stable the last three months preceding the visit. Lipid profile, kidney, and liver function tests were within laboratory normal limits. Screening of microvascular complications revealed a stable, nonproliferative diabetic retinopathy.\nWe diagnosed psoriasis-associated Koebner phenomenon due to insulin injections.",
"gender": "Female"
}
] |
PMC10578368
|
[
{
"age": 29,
"case_id": "PMC11377115_01",
"case_text": "A 29-year-old male patient with a temporary filling of the Mandibular Right Tooth #46 (Figure 1) was referred to the Conservative Department of Prof. Soedomo Dental Hospital, Yogyakarta, Indonesia, by a general dentist.\nClinical examination indicated a fistule on the buccal gingiva with a probing depth of 6 mm in the buccal area and signs, including spontaneous pain and a positive result on percussion. The #46 tooth has been previously filled, and the patient has a habit of chewing on the right side. Medical history had no influence. Additionally, no substantial family history was disclosed, and the extraoral findings were normal. A radiographic examination of the furcal region of 46 showed a radiolucent area and external resorption (Figure 2). Pulp necrosis, symptomatic apicalis periodontitis, and external resorption were found in Tooth #46.\nThe chosen procedure was surgical root canal therapy with endo-perio lesions.\nAnother treatment choice was considered for this patient. It was a nonsurgical root canal treatment for endo-perio lesions.\nThe patient provided his consent. During the first visit, the access cavity was prepared, and initial negotiation was done with a No. 15 stainless steel hand K-file (M-access; Dentsply Maillefer, Ballaigues, Switzerland) under strict rubber dam isolation (Figure 3). A #10 K-file was used to explore the root canals (Dentsply, Switzerland). A SX file was used to perform coronal flaring (ProTaper Gold, Dentsply, Switzerland). The working length was 19 mm for the mesiobuccal, mesiolingual, and distal root canals. Shaping and cleaning were done by using a rotary file (ProTaper Gold, Dentsply Maillefer, Ballaigues, Switzerland).\nSodium hypochlorite (NaOCl) was used as an irrigant solution during instrumentation, and K-file #25 was used for apical gauging. The tooth was irrigated with a solution of 2.5% NaOCl, 17% EDTA, and 2% chlorhexidine. Obturation was carried out by using epoxy resin (AH Plus, Dentsply), and periapical radiograph evaluation was performed (Figure 4).\nAfter 3 months of postroot canal treatment, the fistula reappeared in the buccal gingival area. Then, cone beam computed tomography (CBCT) was taken using CBCT (Vatech , Seoul, South Korea), and the images were reconstructed using Ez3D-I software. Periapical lesions that expand distally could still be observed on the sagittal view (Figure 5(a)). External resorption in the furcation area and bone loss at the one-third buccal cervical were revealed (Figures 5(b) and 5(c)). Then, the patient received scaling and root planning, as well as dental health education and probing depth assessment, with a measurement result of 6 mm.\nTwo weeks later, the control was carried out. Flap debridement surgery and Biodentine application in the ERR area were planned. After the surgical informed consent form was approved, the surgery was performed with the patient's agreement. Local anesthesia was performed.\nThen, a sulcular incision was produced on Teeth 47 and 45 with a No. 15c blade, a modified Widman flap was executed on Tooth 46, and a vertical incision was performed on Mesial Tooth 45. The interdental papilla area was left alone and deepitelized with a 15c blade to preserve the papilla (Figure 6). A Gracey curette (Osung, South Korea) and an ultrasonic scaler were used to debride and clean the furcation area of Tooth 46 after the full-thickness flap had been reflected (Figure 7).\nThe granulation tissue was cleaned and irrigated with a sterile saline solution. Subsequently, Biodentine (Septodont, United States) was placed on the resorption tooth's surface and allowed to set for roughly 10 min. Then, the roots were conditioned with EDTA gel and rinsed with saline (Figure 8).\nThe DFDBA bone graft (Batan, Indonesia) was inserted into the area of the bone defect, completely filling the furcation surface, and then coated with a collagen membrane (Collacure, USBIO , China) sewn together with 5.0 monophytic thread (Figure 9). Simple and sling sutures with 4.0 nylon thread were used to seal and stitch the flaps (Figure 10). In addition to giving the patient health instructions, a periodontal dressing (Coe-Pack, GC, Japan) was placed on the surgical area (Figure 11). A prescription for 500 mg each of the painkiller mefenamic acid and the antibiotic amoxicillin was provided to the patient, who was told to take the medication as directed for a week.\nAfter a week, the patient had no complaints, had completed dental health education, and had the sutures removed. After 1 month, the patient had no complaints, no soft tissue anomalies, and no percussion tenderness. The patient was clinically assessed, and a repeat radiographic examination was performed to assess changes. The examination revealed that the pocket depth had decreased from 6 to 2 mm. The restorative phase began 1 month following the operation. A polysiloxane base (GC, Japan) was used to record the impression. Then, temporization was performed. One week later, composite crowns were bonded to the tooth (Figure 12).\nAn inspection revealed that the probing depth was 2 mm during the control period of 3 months. CBCT was done during this period. The periapical and furcation areas showed indications of new bone formation, which was characterised by radiolucent areas that gradually shifted to radiopaque (Figures 13(a), 13(b), and 13(c)).\nAfter 6 months after the surgery, the patient had no complaints and was wearing a crown that was found to be well-suited at the time of the visit. The probing examination was 2 mm. CBCT on the sagittal view showed compacted bone in the periapical area which has a similar appearance to the surrounding normal bone trabecular (Figure 14(a)), while bone defect in the furcation area has remained as seen in the coronal and axial views (Figures 14(b) and 14(c)). Comparison of the condition of Tooth 46 and the periapical status before surgery, after surgery, and after a 6-month follow-up evaluated through CBCT imaging (Figure 15).",
"gender": "Male"
}
] |
PMC11377115
|
[
{
"age": 38,
"case_id": "PMC10783267_01",
"case_text": "A 38-year-old married female housewife by occupation presented with the chief complaint of reddish-raised, fluid-filled, and painful, nonpruritic lesions, along with swelling of the bilateral hand and feet. She started developing reddish-raised lesions over the dorsum of her right hand 3 days ago, which gradually spread to involve the bilateral dorsum of her hand and foot. A few similar lesions also appeared on her upper back and face within 2 days of the onset of hand lesions. She had a history of amoxicillin consumption for a sore throat. She also had a history of taking ayurvedic medication for abdominal pain and bloating on and off, which she took a few days after starting antibiotic medication, and that is when she started developing symptoms. There was no history of fever, cough, burning micturition, or insect bite. She did not provide a history of the application of topical herbal or cosmetic products. There is no history of similar illnesses in the past.\nOn admission, her general condition was fair [Glasgow Coma Scale (GCS) 13/15]. She was alert, conscious, cooperative, and well-oriented to time, place, and person. Her vital signs were stable and within normal limits except for low blood pressure (value: 90/60 mmHg). There was no pallor, icterus, lymphadenopathy, edema, dehydration, cyanosis, or clubbing. Her breathing sounds were normal with no added sounds. Her heart sounds S1/S2 were normal with no murmur. A soft tenderness over the left lumbar region was present with no organomegaly. Her higher mental functions, sensations, cranial nerves, and coordination were normal. The tone, power, and reflexes of her upper and lower limbs were normal. The rest of the systemic examination findings were regular. On cutaneous examination findings, there were multiple violaceous bullae over the erythematous base, the largest measuring ~3x4 cm and the smallest ~1x1 cm, with acral distribution mainly over the dorsum of bilateral hands and feet. A few papules and vesicles were scattered over the bilateral forearms, along with few erythematous plaques over the upper back. Her oral and genital mucosa were intact.\nInvestigations such as serology, urine culture and sensitivity (c/s), pus c/s, swab c/s, urine routine examination (RE), stool routine examination/microscopic examination, hematology, random blood sugar, renal function tests (RFTs), and liver function tests (LFTs) were performed. Hematology showed 13.3 g% hemoglobin with a packed cell volume of 38% and 311 000 platelet count. The total leukocyte count was 1140 cells/mul. The differential leukocyte count showed 80% neutrophils, 13% lymphocytes, 2% eosinophils, 5% monocytes, and nil basophils. The erythrocyte sedimentation rate was 90 with 2+ C-reactive protein. Urine RE showed trace albumin, 1-2 WBC (white blood cells), packed epithelial cells, and RBC (red blood cells) was nil. Urine c/s showed no growth. Serology was nonreactive. Pus c/s showed sterile pus. Swab c/s revealed Coagulase-negative Staphylococci sensitive to cloxacillin. RFTs showed 3.1 mmol/l urea, 45 mumol/l creatinine, 140 mEq/l sodium, 4 mEq/l potassium, 67 g/l protein, 36 g/l albumin, and total direct bilirubins of 7 and 1 mumol/l respectively. LFTs revealed that AST (aspartate aminotransferase), ALT (alanine aminotransferase), and ALP (alkaline phosphatase) were 13, 16, and 43 U/l, respectively. A diagnosis of BEM was made.\nShe was treated with ampicillin and cloxacillin, acyclovir and prednisolone. Daily dressing of the lesions was performed. Her lesions gradually started and improved, and she was clinically stable at the time of discharge. She was put on ampicillin and cloxacillin, acyclovir and mupirocin, and called up for follow-up after 2 weeks. The patient was completely well during her follow-up. She did not experience any side effects of the drugs, and the symptoms gradually disappeared.",
"gender": "Female"
}
] |
PMC10783267
|
[
{
"age": 66,
"case_id": "PMC10615584_01",
"case_text": "This paper reports the case of an edentulous 66-year-old male patient after written informed consent was obtained from the patient, who was referred to the Oral Medicine Department, Faculty of Dentistry, Hamadan University of Medical Sciences, with a complaint of growth on the palate with swallowing difficulties, in November 2022. The patient complained of a gradually growing swelling over the past three months, which had recently become ulcerated on the surface and interfered with using his upper denture. The lesion was tender, with no spontaneous bleeding or paresthesia.\nThe patient was under medical treatment with theophylline, loratadine, and furosemide because of chronic obstructive pulmonary disease and had a smoking history. No other systemic disease was reported. There was no history of trauma or previous infectious diseases such as hepatitis C or acquired immunodeficiency syndrome (AIDS). The patient also experienced noticeable weight loss, fatigue, nausea, and lethargy over the past two months.\nIn the extraoral examination, the nasolabial fold was slightly obliterated, and no lymphadenopathy was visible in the extraoral examinations.\nIntraoral examinations revealed a tumoral exophytic enlargement (sessile) of the lateral posterior right side of the palate with a bosselated surface on the posterior side of the lesion and a firm consistency, except for the middle part of the lesion (near the alveolar ridge), which had a rubbery consistency with a diameter of 3*4*5 cm and a slightly blue color. There were two crater-like ulcers measuring 1*1 cm, covered with a fibrin leukocyte membrane on the posterior aspect of the lesion (Figure 1).\nThe panoramic view revealed a radiolucent lesion with irregular borders that filled the right maxillary sinus, along with erosion and destruction of the pharyngeal wall of the sinus. In addition, to some degree, thinning and erosion could be seen in the lower part of the right sinus (Figure 2).\nCone-beam computed tomography (CBCT) revealed the invasion of the lesion into the maxillary sinus and nasal concha (Figure 3).\nConsidering the history and clinical manifestations, provisional diagnoses included mucoepidermoid carcinoma (MEC), pleomorphic adenoma (PMA), and acinic cell carcinoma (ACC).\nHe referred to a private clinic approximately one month ago. The incisional biopsy carried out for him there reported chronic ulcerative squamous mucosa with reactive squamous hyperplasia and obvious dense polymorphic lymphoblastic infiltration in the ulcer bed, which extended to the minor salivary glands.\nAn incisional biopsy under local anesthesia was carried out, and the sample was sent for routine histopathology examination, which showed neoplastic tissue with a lymphoproliferative nature with the following characteristics: a diffuse proliferation of medium-to-large pleomorphic lymphoma cells with regular nuclear membranes, some distinct nucleoli, unclear cells, and cytoplasmic borders, which were arranged in dense cell sheets with a fine vascularized and inflammatory background. Much mitotic and apoptotic activity was also observed, with no evidence of specific differentiation (Figure 4). These histopathological findings were compatible with a malignant diffuse-type lymphoproliferative disorder that suggested DLBCL. However, there was still a strong emphasis on additional immunohistochemical (IHC) tests to confirm the diagnosis and determine the exact immunotype of the neoplasm.\nIn the IHC profile, tumor cells were positive for cluster of differentiation 3 (CD3), CD7, CD8, and CD56 but negative for CD4, CD5, CD6, CD10, CD20, Cyclin-D1, and B-cell lymphoma 6 (BCL-6), and the proliferation rate was high with the nuclear protein Ki-67 (Ki - 67) > 60. Therefore, according to IHC findings, a final diagnosis of extranodal NK/TL, nasal type, was confirmed. Also, in situ hybridization was positive for EBV-encoded small RNAs.\nRoutine blood tests, along with hepatitis C-antibody (HCV-Ab), human immunodeficiency virus-antibody and antigen (HIV-Ab and Ag), and hepatitis B-antigen (HBs-Ag) to rule out AIDS and hepatitis infections, were performed. All the test results were within the normal range, and the results of the infectious tests were negative.\nThe patient was referred to the Department of Maxillofacial Surgery and Oncology.\nIf the patient's disease was diagnosed on the first visit and some time did not pass until his second visit and the final diagnosis, the patient would probably have faced fewer treatment challenges.\nAfter being referred to the oncology center, the patient was scheduled to receive 8 chemotherapy sessions according to the CHOP regimen (cyclophosphamide, doxorubicin, vincristine, and prednisone), but after receiving 6 sessions, chemotherapy was discontinued after evaluating the positron emission tomography (PET scan) results, which were satisfactory, due to the occurrence of perianal ulceration and some other complications like reduction of white blood count (WBC). During this period, he was followed up regularly and emphasized about careful oral hygiene. After the completion of the sixth session of chemotherapy, the size of the lesion had noticeably decreased. Then, after consulting the oncologist about the patient's condition, surgery was performed for complete excision of the lesion, and reconstruction of the defective area with prosthetic rehabilitation was performed later. To ensure the absence of any metastases or recurrence, a PET scan was prescribed again approximately 3 months after treatment, and the results were satisfactory.",
"gender": "Male"
}
] |
PMC10615584
|
[
{
"age": 39,
"case_id": "PMC10484767_01",
"case_text": "A 39-year-old Asian woman with anemia due to hypermenorrhea began to notice leg weakness seven days after receiving the second dose of the Pfizer-BioNTech COVID-19 (BNT162b2) mRNA vaccine. There was no obvious prior infection, and she had no history of insect bites or recent travel. One month after the onset, she developed numbness in her legs and muscle weakness in both hands. The patient visited an orthopedics department of a hospital, but her evaluation was terminated without follow-up.\nTwo months after the onset, she became unable to walk and was referred to a neurological clinic. Although peripheral neuropathy was suspected, she was followed up without treatment. Three months after the onset, she could no longer stand alone and was referred to our hospital. Her medications included dienogest for hypermenorrhea. Her family history was not significant. She did not have any allergies. Her diet was normal without alcohol abuse. She usually ate bread and meat with very little rice or fish in her diet.\nOn admission, the general medical condition of the patient was unremarkable. A neurological examination revealed limb weakness with distal lower extremity predominance and positive Lasegue sign, paresthesia and dysesthesia below the knees, general areflexia, and difficulty standing and walking. The cranial nerves were intact. Results of routine hematological and biochemical analyses, including those for the thyroid function, were normal except for the mild elevation of hemoglobin up to 15.5 g/dL (normal range: 12.1-14.5 g/dL). Comprehensive screening for serum ganglioside antibodies identified the presence of antibodies against anti-GM1 and anti-GM2 IgG but not anti-GM3, GD1a, GD1b, GD3, GT1b, GQ1b, or galactocerebroside. Serum antinuclear antibodies, perinuclear antineutrophil cytoplasmic antibody (ANCA), cytoplasmic ANCA, anti-SSA/SSB antibodies, anti-neurofascin 155 antibody, angiotensin-converting enzyme, human T-cell leukemia virus type 1, interleukin (IL)-2 receptor, IgG4, interferon-gamma release assays, cryoglobulin, anti-Borrelia antibody, vitamin B12, folate, human immunodeficiency virus antibody, rapid plasma regain test, and Treponema pallidum particle agglutination assay results were unremarkable. Serum anti-aquaporin-4 (AQP4) and anti-myelin oligodendrocyte glycoprotein (MOG) antibodies were negative using the in-house cell-based assay. An analysis of the cerebrospinal fluid (CSF) showed one mononuclear cell/mm3 (normal range: 0-5 cells/mm3), protein levels of 189 mg/dL (normal range: 10-40 mg/dL), myelin basic protein (MBP) 33 pg/mL (<103 pg/mL), and a negative oligoclonal band.\nBrain gadolinium-enhanced magnetic resonance imaging (MRI) showed an increased signal of fluid attenuated inversion recovery in the deep white matter without increased diffusion-weighted imaging and enhancement (Fig. 1A, B) and an enhanced mass in the left temporal bone (Fig. 1C). We performed a biopsy of the mass in the left temporal bone, which revealed plasmacytoma. Whole-body enhanced computed tomography showed no significant findings other than a left renal cyst and leiomyoma uteri. Since a serum free light chain analysis and protein electrophoresis of the serum and urine were negative, we diagnosed her with a solitary plasmacytoma.\nLumbar gadolinium-enhanced MRI revealed a swollen cauda equina with marked enhancement (Fig. 1D). Short tau inversion recovery sequence MRI showed an increased signal and hypertrophy (5.4 mm) in the lumbar nerve root (Fig. 1F, G). Cervico-thoracic MRI findings were unremarkable. Visual evoked potential (VEP) showed a slight delay in latency as right 112 msec (<=106 msec) and left 109 msec. An ophthalmologic examination did not reveal any visual impairment due to anterior segment abnormalities.\nTable 1 summarizes the results of the nerve conduction study (NCS) of the compound muscle action potential (CMAP), which revealed a 33.3% (<=50%) delay in the distal latency of the right median nerve. Abnormal temporal dispersion was observed in the right median nerve. A 32.3% (>30%) reduction in motor conduction velocity was observed in the right median nerve (Fig. 2). A total of 33.1% (>=30%) motor conduction block was observed in the right ulnar nerve. No CMAP was elicitable in the right tibial nerve. The right peroneal nerve was difficult to evaluate because its amplitude was very low. An NCS of the sensory nerve action potential (SNAP) showed a decrease in SNAP amplitude and conduction velocity in the right median and ulnar nerves. No SNAP was evoked in the right sural nerve.\nBased on the diagnostic criteria of CIDP, her symptoms suggested distal CIDP, a CIDP variant. No red flags for distal CIDP, including a family history, autonomic symptoms, pain, or IgM monoclonal gammopathy, were observed. The motor conduction velocity in the right median nerve was more than 30% below the lower limit of normal value, meeting the criteria of weakly supportive demyelination and the possibility of distal CIDP. Based on the possibility of distal CIDP and two supportive features of MRI and CSF, we finally diagnosed the patient with distal CIDP following COVID-19 vaccination.\nAfter the administration of intravenous methylprednisolone (IVMP) from admission days 2 to 4, the Lasegue sign disappeared. To obtain further improvement, intravenous immunoglobulin (IVIG) was administered, followed by oral prednisolone 20 mg/day on admission day 18. A second administration of IVMP was performed from admission days 34 to 36, and oral prednisolone was stopped on admission day 37. During the course of these treatments, the muscle weakness in the proximal lower legs gradually improved. Consistent with the improvement in clinical symptoms, MRI findings of the cauda equina were slightly reduced on admission day 44 (Fig. 1E). After four plasma exchanges between admission days 70 and 79, the patient was able to walk approximately 30 meters with a walker, and the protein levels in the CSF decreased to 135 mg/dL. She was transferred to the rehabilitation ward on admission day 111.",
"gender": "Female"
}
] |
PMC10484767
|
[
{
"age": 42,
"case_id": "PMC11388174_01",
"case_text": "A 42-year-old sexually active man with a well-controlled HIV infection treated with tenofovir-alafenamide/emtricitabine and dolutegravir presented with a fever of up to 39 degrees Celsius three days before. Two days prior to admission, he developed a severe sore throat to the point where he could not eat much, so he sought medical attention. He is an MSM (man who has sex with man) who engages in both receptive and insertive sexual practices and had multiple partners and high-risk sexual intercourse without condoms including oral sex. The last sexual intercourse was 10 days before symptoms occurred.\nOn examination, body temperature was 36.9 degrees Celsius and other vital signs were within the normal limit. His throat was injected, tonsils were not swollen. There was no lymphadenopathy on his neck. There was an ulcer on his uvula (Fig. A). On laboratory tests, white blood cells were elevated to 10,300/muL, and renal function, liver function, and electrolytes were all unremarkable. A rapid test of group A streptococci was negative. He was started with acyclovir 5 mg/kg IV every 8 h for suspicion of HSV infection, ceftriaxone 2 g IV every 24 h for suspicion of Neisseria gonorrhoeae, minocycline 100 mg IV every 12 h for suspicion of Chlamydia trachomatis. Within two days of starting treatment, his sore throat improved, and he was able to eat, therefore, we switched to oral medicine with amoxicillin/clavulanate, minocycline, and valacyclovir. The swab culture of pharynx turned out to be negative, and PCR tests of Neisseria gonorrhoeae, Chlamydia trachomatis, Mycoplasma genitalium, Mycoplasma hominis, Ureaplasma urealyticum, and Ureaplasma parvum were negative, the RPR (rapid plasma reagin) titer increased to 1:2 which had previously been negative. TPHA (treponema pallidum hemagglutination test) was also positive, and the titer was 1:1280. So, we added Benzylpenicillin 240 million units intramuscularly. His sore throat completely subsided (Fig. B) after Benzylpenicillin intramuscular shot without any recurrence.",
"gender": "Male"
}
] |
PMC11388174
|
[
{
"age": 22,
"case_id": "PMC10798049_01",
"case_text": "A 22-year-old primigravid mother had a routine and uneventful ANC follow-up. She has no significant medical history, such as a uterine operation or procedure. An ultrasound performed during the third trimester revealed a fundal anterior placenta, no obvious congenital anomalies, a cephalic presentation, and an estimated fetal weight of 3.2 kg. She presented with a gush of fluid per vaginum at 41+4/7 weeks of gestation. The pelvis was assessed, and it was clinically adequate. At the start of the induction, the cervix was 2 cm dilated, 50% effaced, soft, anterior, and station-2 (Bishop score of 7), and the liquid was clear.\nA low-oxytocin-dose protocol for direct induction was started, with one-to-one midwife monitoring of contractions. The oxytocin infusion rate was increased in 1 ml/min increments every 20 min after the starting rate of 1 ml/min. She was in established labor with oxytocin titrated to uterine activity, regular moderate contractions, and a 3-min pain-free period. During labor follow-up, tachysystole was not documented. There was a record of fetal bradycardia 3 hr after the oxytocin infusion commenced, yet there was still a uterine contraction with mild tenderness and a laterally palpable fetal part. The cervix was 70% effaced and 3 cm dilated; the position of the vertex was occipito anterior at the time, with minimal vaginal bleeding and a highly stationed vertex. The maternal vital signs were stable (blood pressure: 100/60, pulse rate: 96 bpm).\nUnder general anesthesia, a midline abdominal incision was made after an emergency laparotomy was chosen due to a possible uterine rupture. Overall, 1000 mL of hemoperitoneum, an intact bladder, and an intact anterior uterine wall were all found intraoperatively. A 3.5 kg male alive newborn with Apgar scores of 4, 6, and 8 at the 1st, 5th, and 10th minutes, respectively, was removed from the peritoneal cavity. The infant did not breathe actively, but his heart rate remained above 100 bpm. The bag and mask ventilation method was used twice. The decision on delivery time was 13 min. When the uterus was inspected, the posterior uterine wall on the midline portion ruptured vertically by 12 cm, and there was profuse bleeding but no major blood vessels were involved. The rupture did not extend to the broad ligament or the vagina (Figure 1).\nThe true conjugate was 11 cm, and no congenital uterine anomalies were found. The uterus was then repaired using Vicryl in two interrupted layers, and the hemostasis was secured. The surgery was followed by vaginal exploration to rule out any undetected vaginal extensions. The estimated total blood loss was 1400 mL. The mother received one unit of packed red blood cells intraoperatively, followed by another unit postoperatively. After being resuscitated, the newborn was taken to the neonatal intensive care unit (NICU). The newborn's HGB level was 16 g/dl. With an HGB of 8.5 g/dl, the mother was stable after surgery. The operating surgeon carefully explained the events, including the timing and mode of delivery.\nOnce provided with an implanon and once her male baby's overall status in the NICU had fully improved, the mother was discharged on day 5.",
"gender": "Male"
}
] |
PMC10798049
|
[
{
"age": 58,
"case_id": "PMC11250697_01",
"case_text": "A 58-year-old female, G3P2A1, with a history of hypertension, uterine leiomyoma, and breast cancer, presented with increasing constipation for 5 months. She had reached menopause 9 years before this visit and denied any other hormonal drug use except tamoxifen.\nNine years prior to this visit, she had menometrorrhagia and a suprapubic mass, approximated to a 16-week size uterus, was found. She was diagnosed with leiomyoma by ultrasonography and achieved menopause soon after with only symptomatic treatments.\nFour years before presentation, she found a mass in her left breast. A mammogram with ultrasound revealed a BI-RADS 5 spiculated hypoechoic nodule with hypervascularity and nonparallel orientation. A core needle biopsy confirmed the diagnosis of invasive ductal carcinoma. She underwent total mastectomy with sentinel lymph node biopsy, and her final diagnosis was a hormone-positive invasive ductal carcinoma of no special type Grade 2 and Stage 1, pT1N0M0. Adjuvant chemotherapy with doxorubicin and cyclophosphamide was given, followed by tamoxifen 20 mg per day. No cancer recurrence was detected.\nAt the gynecological clinic, she complained of increasing constipation for 5 months and denied other symptoms. A large painless abdominal mass was palpated during physical examination, approximated to an 18-week size uterus. Transabdominal ultrasound revealed 6.0 cm endometrial thickness and 8.0 cm submucosal mass at the posterior uterine wall. Endometrial biopsy yielded an unsatisfactory result with only blood clots and a few tiny fragments of atrophic endometrium. She underwent abdominal computed tomography, which demonstrated an enlarged uterus with a 3.8-cm-thick heterogeneous hypodense lesion in the uterine cavity and a well-defined heterogenous enhancing lesion in the left uterine wall (Figure 1). The provisional diagnosis was an unspecified endometrial mass with submucosal leiomyoma. After thorough counseling with the patient, we agreed on transabdominal hysterectomy with bilateral salpingo-oophorectomy and complete surgical staging due to the uncertain nature of the uterine mass.\nOn gross examination, the globular-shaped uterus contained a 15.0 x 6.5 x 4.8 cm mass in the endometrial cavity (Figure 2). This lesion had pale brown gelatinous to cystic cut surfaces. There was an 11-cm submucosal mass of likely leiomyoma beneath the endometrial lesion. Two smaller subserosal masses were identified with similar gross features to the submucosal lesion. The left ovary, left fallopian tube, omentum, and pelvic lymph nodes were grossly unremarkable. The right ovary and fallopian tube were not identified.\nMicroscopic examination of the endometrial polyp revealed dilated endometrial glands with attenuated epithelial cells (Figure 3). The stroma was denser than normal endometrial stroma and contained thick-walled blood vessels (Figure 4). The underlying submucosal and subserosal lesions were leiomyomas with prominent hyalinization. The left ovary was atrophic, and the left fallopian tube was unremarkable. No malignancy was detected in the omentum, peritoneal washing fluid, and pelvic lymph nodes.\nAfter the surgery, the patient recovered well. Her symptoms improved without any surgical complications. After a year of follow-up, her pelvic examination showed no sign of recurrence.",
"gender": "Female"
}
] |
PMC11250697
|
[
{
"age": 32,
"case_id": "PMC11227676_01",
"case_text": "A 32-year-old male presented to the emergency department with recurrent episodes of mild hemoptysis (volume of ~20-25 ml/episode) and intermittent low-grade fever for last 6 months. He had previous history of pulmonary tuberculosis one year back for which he had completed 6 months of antitubercular therapy (ATT). He had no other comorbidities. Vitals were stable at the time of presentation (Pulse rate - 76/min, blood pressure - 116/78 mm of Hg, respiratory rate - 16/min, oxygen saturation - 97% and normal general survey).\nSputum Gene-xpert was positive for Mycobacterium tuberculosis. He had low Hb level (~10.5 gm/dL). CTA (Figure 1) was done which revealed multiple contrast-filled outpouchings from branches of left pulmonary artery adjacent to fibrocavitary and fibro-bronchiectatic changes.\nThereafter, patient was shifted for pulmonary digital subtraction angiography (DSA). Informed consent was taken for the procedure. Using right common femoral venous access, left pulmonary angiogram (Figure 2A) was taken which showed three contrast-filled outpouchings from branches of left pulmonary artery. Superselective cannulation of each branch supplying the pseudoaneurysm was done using the Progreat microcatheter (Terumo medical corporation, New Jersey). The branch supplying each pseudoaneurysm was embolized using two 5 mm x 14 cm and one 4 mm x 14 cm Nester microcoils (Cook Medical, Bloomingtom, USA). Post-embolization, there was complete non-opacification of all pseudoaneurysms (Figure 2B). Hemoptysis resolved following the procedure. Patient was again started on multi-drug resistant ATT regimen.",
"gender": "Male"
}
] |
PMC11227676
|
[
{
"age": 45,
"case_id": "PMC10480021_01",
"case_text": "This is a 45-year-old man with decompensated liver cirrhosis due to chronic alcohol use, type 2 diabetes, and intravenous drug use. In the last 3 months, he had bacteremia of an unknown source associated with Lacticaseibacillus species.\nThe patient was allegedly well and a passenger in a car with his friend, when suddenly he became unresponsive. Approximately 10 minutes later, he was dropped off at the emergency department (ED). On arrival, he was unresponsive and pulseless in rhythm of pulseless electrical activity and undergoing active cardiopulmonary resuscitation (CPR). CPR continued, endotracheal intubation proceeded, and he achieved return of spontaneous circulation in 20 minutes.\nInitial evaluation showed a temperature 29.3 C (84.7 F), heart rate 75 (sinus rhythm), respiratory rate 24 breaths per minute, blood pressure 135/94 mmHg (while started on 5 microgram/minute of norepinephrine), and Glasgow Coma Scale 3. Examination showed bilateral crackles heard diffusely throughout both lungs, positive fluid wave and flank dullness suggesting ascites, and bilateral 3+ pitting edema below the thighs.\nOverall, labs (Table 1) showed profound electrolyte disturbance with metabolic acidemia (normal anion gap due to profound electrolyte disturbance, but notably elevated lactate). Liver function test derangements, cytopenias, and coagulopathy were likely attributed to both decompensated cirrhosis (MELD-Na score 36) and sepsis with disseminated intravascular coagulation.\nCT angiography chest abdomen pelvis (Figures 1 and 2) showed extensive airspace opacities bilaterally concerning for a multifocal inflammatory process such as pneumonia, hepatosplenomegaly, and ascites and the endotracheal tube in the right mainstem bronchus (tube later moved to appropriate position).\nED management included IV fluid bolus 1500 mL normal saline and antibiotic cefepime. Hyperkalemia was treated with calcium gluconate. Vasopressor norepinephrine was titrated to maintain MAP >= 65 mmHg. He was admitted to the intensive care unit (ICU) for further management.\nAt ICU transfer, antibiotic regimen was changed to meropenem and vancomycin. Given hypothermia, thrombocytopenia < 50 K/muL, coagulopathy, and relative hemodynamic instability, he did not undergo targeted temperature management.\nA search for sepsis source was pursued. Paracentesis did not suggest spontaneous bacterial peritonitis (white blood cell count 81 cells per mm3). Ascitic fluid culture, urine culture, serum fungal (1-3)-beta-D-glucan assay, and respiratory panel PCR (influenza A/B, RSV, and SARS-CoV-2) were negative. Respiratory sputum culture showed few Staphylococcus aureus. One of four bottles of blood cultures grew Gram-negative bacilli Serratia marcescens resistant to ampicillin, sulbactam, and cefazolin.\nAs hypotension continued, he was given albumin, total 175 g 25% albumin, and 25 g 5% albumin. For concerns of bleeding, he was transfused total 4 units of red blood cells, 1 unit of platelets, and 10 units of cryoprecipitate.\nAround 20 hours after presentation to ED, HLH was considered. Notably, the patient developed pancytopenia (white blood cell count was 1.1 K/muL). Further work-up was sent: triglycerides, ferritin, and s-IL2R/sCD25. Triglycerides were not elevated, but ferritin was at 2994 ng/mL. After thorough consideration of immunosuppression in the setting of Gram-negative bacteremia, a decision was made to start noncytotoxic (versus a cytotoxic agent-like etoposide); hydrocortisone 100 mg q8h was started around hour 21; the patient received 200 mg hydrocortisone in total.\nUnfortunately, hypotension persisted, even on hospital protocol's maximum doses of norepinephrine 30 microgram/minute and vasopressin 0.04 units/minute. Given ongoing concern of heart failure (brain natriuretic peptide > 5000 pg/mL), dobutamine was also started and titrated to 1.5 microgram/kg/min. Given guarded prognosis, the family changed the patient to \"do not resuscitate.\" 31 hours post-ED presentation, the patient went into asystole, did not receive CPR, and was pronounced expired. 48 hours postmortem, the sIL2-R/sCD25 level resulted elevated 7733.7 pg/mL (lab reference range 175.3-858.2 pg/mL). While the patient met the classic five criteria to diagnose HLH and could be considered for SHLHOS, given the rapid clinical course of sepsis with clear evidence of profound pathological immune activation and determination that cytotoxic immunosuppressive agents were of more risk than benefit, sepsis with acute end organ dysfunction was the most likely diagnosis.",
"gender": "Male"
}
] |
PMC10480021
|
[
{
"age": 25,
"case_id": "PMC11086931_01",
"case_text": "A 25-year-old aesthetician developed sudden blurring of vision and floaters in her right eye after an accidental laser injury. She was operating a SPECTRA (Q - switch) Nd:Yag cosmetic laser machine of 1,064-nm wavelength, having fluence:1.2J/cm2, spot size:8 for bleaching of skin. She was not wearing any protection for the eyes, but considering the current COVID scenario, she had kept a particular \"plastic sheet\" on the skin of the patient for the sake of aseptic precautions and also had worn a face shield. During adjusting the laser, the probe slipped over the plastic sheet and she heard a \"pop\" sound, felt a flash in her right eye followed by floaters and severe dimness of vision. She was diagnosed elsewhere as having vitreous hemorrhage and was treated conservatively with oral steroids. Three weeks later, she presented to us with complains of central scotoma in her right eye. Her best corrected visual acuity in right was counting fingers at 3 meters and left eye was 20/20. On examination her anterior segment was within normal limits in both eyes. Posterior Segment examination revealed full thickness macular hole (FTMH) and resolving vitreous hemorrhage in right eye [Figure 1]. Left eye fundus showed few retinal pigment epithelial changes in macula. Imaging including spectral domain optical coherence tomography (SD-OCT) identified an 800 mm FTMH with IS-OS junction disruption with cystic spaces at the edges of the hole in right eye [Figure 2]. The patient was advised vitrectomy surgery for the repair of her macular hole in her right eye.",
"gender": "Female"
}
] |
PMC11086931
|
[
{
"age": 43,
"case_id": "PMC11135076_01",
"case_text": "A 43-year-old male presented to our emergency department with sudden crushing chest pain persisting for the last 4 h, radiating to the jaw and right arm. He has no past medical history, is a non-smoker, and does not drink alcohol.\nUpon examination, a middle-aged male was found sitting in bed with severe chest pain. He was fully conscious, alert, and oriented to time, place, and person. Cardiovascular, respiratory, and abdominal examinations were unremarkable.\nHis vital signs were as follows: blood pressure 138/89 mmHg, respiratory rate 18 cycles/min, temperature 37.2 C, heart rate 87 beats/min, and oxygen saturation at 97%.\nAn emergency ECG revealed ST segment elevation in leads II, III, aVF, and reciprocal ST segment depression in lead aVL (Figure 1(a)). The \"Dead man sign\" was positive, as shown in (Figure 1(b)).\nImmediate action was taken following the activation of the emergency acute coronary syndrome protocol, with the patient receiving aspirin 300 mg, ticagrelor 180 mg, and morphine sulfate 2 mg intravenously. While awaiting transfer to the coronary catheter laboratory, echocardiography showed a normal ejection fraction, no regional wall motion anomalies, normal heart valves, and no pericardial effusion. His serum troponin I was significantly elevated at 5.6 (normal 0.0.04 ng/ml).\nEmergency percutaneous coronary intervention (PCI) was performed with a door-to-balloon time of 70 min, revealing total occlusion of the right coronary artery (RCA) with TIMI 0 blood flow (Figure 2(a)) and proximal mid-bifurcational occlusion of the left anterior descending (LAD) artery with TIMI 2 blood flow and normal left circumflex artery (Figure 2(b)). During angiography, the patient developed transient sinus bradycardia, which was managed successfully with the placement of drug-eluting stents. Specifically, Zotarolimus-Eluting Stents (Onyx, Medtronic) measuring 3.5 x 30 mm were placed in the RCA and LAD, restoring normal blood flow (Figure 3(a) and (b)), without the need for a temporary pacemaker.\nHe was subsequently transferred to the coronary care unit for strict management and follow-up. One hour post-angiography, his ECG revealed normal sinus rhythm without ischemic changes, indicating successful revascularization (Figure 4).\nHis medication regimen included aspirin 100 mg once daily, ticagrelor 90 mg twice daily, bisoprolol 5 mg once daily, lisinopril 5 mg once daily, and atorvastatin 80 mg once daily.\nDuring his 2-day admission, he remained pain-free and clinically stable. He was discharged home with instructions for monthly follow-up for 1 year. Subsequent assessments demonstrated normal echocardiography and ECG findings, indicating favorable cardiac recovery.",
"gender": "Male"
}
] |
PMC11135076
|
[
{
"age": 66,
"case_id": "PMC11412849_01",
"case_text": "A 66-year-old patient showed a 12-year history of gradually progressive chronic respiratory insufficiency, with no significant history of trauma or accidents. The patient was dependent on long-term oxygen therapy. She was restricted to her home and unable to make any physical effort.\nA CT scan revealed a large right diaphragmatic hernia with mixed contents including colonic, small bowel, hepatic and omental elements (Figure 1A). Given the size of the hernia, most surgeons refused to operate the patient and eventually, referred her to our centre.\nVolumetric analysis using 3D Slicer software showed a hernia sac volume of 2,229 cm3 against an abdominal volume of 3,654 cm3, resulting in a 38% ratio according to the Sabbagh method (Figure 1B). This ratio required preoperative preparation before reducing the hernia contents.\nThe hernia neck was estimated to be 7 cm in diameter, located at the centre of the diaphragm (Figure 1C).\nBilateral ultrasound-guided identification of the lateral abdominal wall muscles was performed, followed by BTA injections into each muscle at three sites along the upper axillary line (from top to bottom: subcostal, median, anterior superior iliac spine). A total of 16.5 units of BTA were injected per muscle, per site, amounting to 100 units for the entire abdominal wall.\nThe surgical procedure was scheduled 1 month after the injection. It involved a complete laparoscopic reduction of the hernia sac, diaphragmatic suturing with non-absorbable thread, and reinforcement with 3D Mesh in non-absorbable monofilament polyester with absorbable collagen film (Symbotex Composite 15 x 10 cm) secured with absorbable polyester copolymer tackers (AbsorbaTack ). Given the localization of the defect, it couldn't have been a congenital hernia. A Jackson-Pratt drain and a thoracic drain were placed (Supplementary Video S1).\nThe patient had an uncomplicated recovery, being discharged on the 12th day without any signs of compartment syndrome. In order to exclude this risk, intra-vesical pressure was monitored daily, as well as oxygen saturation. She suffered at the beginning of hypoventilation, treated by non - invasive ventilation. No recurrence was observed at the 24-month follow-up imaging, with excellent functional results and resolution of dyspnea (Figure 1D).\nThis video shows the various stages of repair of this giant diaphragmatic hernia and the key points of the operation.",
"gender": "Female"
}
] |
PMC11412849
|
[
{
"age": 24,
"case_id": "PMC10899487_01",
"case_text": "The proband, a 24-year-old man of South African descent, was the first child born to a healthy mother. There is no known parental consanguinity. Pregnancy was uneventful, and the infant was delivered by cesarean section due to failure to progress. The patient had two younger healthy siblings without any family history of neurologic symptomatology (Figure 1A). Birth weight was noted to be 2.9 kg, and no perinatal risk factors or postpartum complications were reported. His early developmental milestones were attained and deemed normal up until the age of 15 months, when an abrupt onset of neurological decline presented with ocular strabismus, head tilt, and nystagmoid eye jerks noted a few days following an ear infection. Thereafter, he went on to experience episodes of ataxia, confusion that would last between minutes and hours, and regression in his baseline motor and language skills. These episodes would be followed by a partial recovery that was incomplete and never to the neurological baseline state prior to the onset of illness. Early in the course, these episodes would vary in frequency, occurring once every 1-4 weeks. These events were generally, but not always, associated with infections and febrile illnesses. Assessment at the age of 2 years and 5 months disclosed developmental delay with a developmental age closer to that of a 1-year-old. By this age, the patient was crawling but had not achieved walking and had no spoken language. His language comprehension, however, remained advanced when compared to his expressive skills.\nThe clinical course was punctuated by episodes of neurological decompensation until 2.5 years of age. These decompensations were characterized by ophthalmoplegia (mostly vertical), ptosis, gait ataxia, lethargy, and developmental regression and incoordination (Figure 1B). He would have difficulty speaking and would be unable to participate in sporting activities of which he was previously capable. The clinical cessation of his episodes coincided with the empiric introduction of a mitochondrial cocktail of L-Carnitine 330 mg once daily, coenzyme q10 200 mg twice a day, B-100 complex once daily (100 mg of vitamins B1, B2, B3, B5 (pantothenic acid), and inositol, 10 mg of bioactive vitamin B6, 1,000 mcg of folic acid, 10 mg of choline, 500 mcg of bioactive vitamin B12, and 300 mcg of biotin in each tablet), and riboflavin 200 mg once daily, resulting in dramatic observed improvements in his neurodevelopmental status with residual ataxia and the stabilization of his neurological status. Aside from this, the patient received surgical correction for strabismus but continued to have gaze-evoked nystagmus. Hearing ability was subjectively normal, and he had never reported seizures, abnormal movements, or dystonic posturing. Kyphoscoliosis and longstanding reports of constipation were also noted, the latter possibly being related to gastrointestinal dysmotility.\nThroughout childhood, our index case continued to display clumsiness with particular concerns around balance and limb coordination. He was noted to have a staggering and stumbling gait, difficulties using utensils independently, and challenges with his language skills. He also experienced intermittent fatigue with a tendency to do poorly during intercurrent infections; however, he continued to perform satisfactorily with his academic work at school. Neuropsychological assessment at the age of 8 years documented his cognitive performance within a normal range. Throughout childhood and adolescence, he was diagnosed with generalized anxiety, which was managed by citalopram. At 24 years of age, the patient was admitted to the mental health unit after experiencing violent intrusive thoughts consistent with obsessive-compulsive disorder as well as delusions in the setting of psychosocial stressors. Beyond the teenage years, he was neurologically stable, and at the time of the study, he was majoring in accounting and attempting to develop life skills for independent living.\nOn examination at the age of 24 years, the patient was aware and engaging. His speech was of a slurred quality but was otherwise fluent. His responses to questions appeared mildly sluggish but with no apparent intellectual difficulties; a formal assessment was not considered necessary in view of his current abilities and cognitive functioning. His examination identified notable difficulties in initiating saccades, often with an overshot, while ocular pursuit movements were incomplete or broken up by intrusions. In primary gaze, he had square wave jerks and bilateral ptosis. Limitations in his extraocular muscle movements were observed particularly during supraduction and infraduction. Muscle tone was low in the upper extremities, and spasticity was noted in the lower extremities with intact strength and positive pyramidal signs. Gait examination showed difficulty in tandem gait with a tendency for toe walking in stressed gait maneuvers. On examination of the spine, kyphoscoliosis was evident. Sensory examination showed distal impairment of vibration sense, but pain sense, temperature sense, and joint position sense were preserved. Past pointing in finger-nose testing was not apparent, but there were slowed and rapid alternating movements. Supplementary Video S1 demonstrates the patient's physical findings.\nA provisional diagnosis of mitochondrial disorder was made initially based on ophthalmoplegia, recurrent episodes of regression, and the fluctuation of symptoms with intercurrent illness. Later, hereditaory progressive ataxias were also amongst the differential given the longstanding course of ophthalmoplegia and the predominance of cerebellar involvement.\nExtensive investigations were performed to uncover the possible underlying inborn error of metabolism, revealing an elevated CSF lactate at 3.0 mmol/L, while the rest of the metabolic testing came back unremarkable, including plasma lactate, ammonia, urine organic acids, amino acid profiles, CK, alpha-fetoprotein, vitamin E, uric acid, free and total acylcarnitine profile, homocysteine, 7-Dehydrocholesterol, cholesterol esterification analysis for Niemann-Picks C disease, glucocerebrosidase, galactosidase, beta-glucosidase, peroxisomal studies, skin biopsy, and fibroblast culture for the activity of pyruvate dehydrogenase. Imaging studies showed a minor delay in myelination on the initial MRI study (not accessible at the time of presentation to the tertiary care clinic), while a subsequent imaging study performed at the age of 13 years showed moderate atrophy of the superior vermis and diffuse prominence of cerebellar folia (Figure 1C). An MRI of the cervical spine demonstrated a relatively thin thoracic spinal cord. MRS detected a reduced NAA peak in the cerebellum. No evidence of peripheral neuropathy or myopathy was demonstrated on the NCS/EMG. A complete X-ray of the spine confirmed right lower thoracic and lumbar scoliosis of approximately 50 degrees centered at T11-12.\nAn extensive set of genetic investigations was conducted, including FMR1, NPC1/2, SPG 7 genes, multi-gene panels for spinocerebellar ataxia, and mitochondrial genome sequencing, all of which were inconclusive. Whole exome sequencing revealed a homozygous variant in the NAXE: c.733 A>C in exon 6 (p.Lys245Gln), which was inherited from both parents. This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 245 of the NAXE protein (p.Lys245Gln). This rare variant has an allele frequency of 2.48 E-5 in the gnomAD database. In silico analyses of the c.733 A>C variant using SIFT, Polyphen-2, Mutation Taster, and Panther predicted not tolerated, probably damaging, disease-causing prob.: 0.9999, and probably damaging, respectively. Further in-silico analysis was conducted by submitting the protein variant to ProtVar1 and Dynamut2 webtools for effects on Protein structure and stability. The genomic effects of c.733 A>C missense mutation disclosed a CADD phred-like score of 28.9 (probably deleterious as a CADD phred score above 20 is considered significant) while the effect on protein structure with the EVE (evolutionary model of variant effect) score is considered pathogenic with loss of catalytic site (p = 0.01) at p.Lys245Gln and loss of methylation at the same site (p = 0.02). The Dynamut analysis also predicted a destabilizing effect (DeltaDeltaG: -0.403 kcal/mol). These data are summarized in Table 1. Thus, there is strong evidence that the genomic variant has significant negative effects on protein structure. The variant was classified as a variant of unknown significance (VUS) in the databases, mainly based on the lack of evidence to determine the role of this variant in disease. There has been a report of a homozygous patient with the same NAXE variant, and another compound heterozygous NAXE patient was identified in a series of patients with Leigh syndrome. We classify the NAXE c.733A>C variant as ACMG 2-probably pathogenic.\nFollowing diagnosis, niacin 40 mg twice daily was added to his mitochondrial cocktail, with good tolerability and no adverse effect. Figure 2 presents the timeline of the clinical course.",
"gender": "Male"
}
] |
PMC10899487
|
[
{
"age": 50,
"case_id": "PMC11066190_01",
"case_text": "This 50-year-old male was diagnosed with myelodysplastic syndrome with excess blasts-2 (MDS-EB-2; IPSS-R high risk) in January 2019. After 2 weeks of treatment with all-trans retinoic acid and danazol, he received one cycle of bridging chemotherapy with azacytidine combined with CAG (cytarabine, aclacinomycin and G-CSF). The bone marrow blasts proportion decreased from 17% to 7.5%. The patient demonstrated sub-detectable levels of Epstein-Barr virus (EBV), cytomegalovirus (CMV), and hepatitis B virus (HBV) DNA. CMV IgG antibodies were present at 105.9 IU/ml. Serologically, the patient tested negative for HBsAg, HBeAg, and anti-HBe, while testing positive for anti-HBs and anti-HBc antibodies. On April 28, 2019, after pre-treatment with fludarabine (25 mg/m2/D on days -12 to -8), cytarabine (2 g/m2/D on days -12 to -8), busulfan (3.2 mg/kg/D on days -6 to -4), cyclophosphamide (1 g/m2/D on days -6 to -3), and anti-thymocyte globulin (5 mg/kg/D on days -3 to -2), the patient received HLA-matched peripheral blood stem cells from his sister (ABO mismatch A AB, HBsAg-). The donor's routine blood tests, liver function, and hepato-biliary ultrasound were all normal, hemolysis and thyroid function were not screened. He was given CsA, methotrexate, and mycophenolate mofetil for prevention of graft-versus-host disease (GvHD). The patient received a single dose of nucleated cells (6.0x108/kg) and CD34+ cells (4.25x106/kg). White blood cells engrafted at Day (D) 14, and platelets at D18. Short tandem repeats (STRs) analysis showed 99.86% chimerism. Upon discharge, the patient received oral CsA and methylprednisolone as well as prophylactic antibiotics. The patient developed CMV infection 3 months post-transplantation, which improved after treatment with ganciclovir. Eight months after transplantation, he developed chronic skin GvHD and lung infection (fungal + bacterial), which improved after anti-infection treatment combined with tacrolimus. The patient was gradually weaned off tacrolimus, CsA, and methylprednisolone during the follow-up period, and the original disease continued to be in remission.\nAt D619 post-transplantation, the patient's globulin (GLB) test showed an increase (53 g/L), while total bilirubin (TBil), alanine aminotransferase (ALT), and aspartate aminotransferase (AST) were all within the normal range. On D711, during routine follow-up, the patient was found to be positive for hepatitis B surface antigen (HBsAg), with HBV-DNA levels of 6.52x104 IU/ml and normal liver function. He was treated with the antiviral drug, entecavir (ETV). After 2 months of treatment (+776 days), HBV-DNA was reduced to 1.01x104 IU/ml, but serum ALT and AST rose to 335 U/L and 886 U/L, respectively, while TBil remained normal, and GLB and immunoglobulin G (IgG) levels were high at 75.4 g/L and 57.3 g/L, respectively. Tests for hepatitis A, C, and E, antinuclear antibodies, anti-dsDNA antibodies, and anti-neutrophil cytoplasmic antibodies were negative, and ceruloplasmin was normal. After 10 days of ETV and intravenous liver-protecting treatment, no significant improvement was observed, and the patient was treated with adefovir dipivoxil (ADV) and prednisone (PDN) at 0.5 mg/kg/D. After nearly two weeks of treatment with PDN, dual antiviral therapy (ETV+ADV) and intravenous liver-protecting drugs, liver function returned to normal, and HBV-DNA dropped below the detection limit. The patient continued the dual antiviral therapy and received a maintenance dose of PDN at the reduced dose of 0.25 mg/kg/D, and HBV-DNA remained below the detection limit.\nDuring routine follow-up, the patient's thyroid-stimulating hormone (TSH) levels were found to be >150 MICRO-IU/L, free triiodothyronine (FT3) was 0.37 pmol/L, and free thyroxine (FT4) was 1.5 pmol/L. Tests revealed HT and hypothyroidism with elevated antithyroid peroxidase antibody (TPOAb) levels at >1300 IU/mL, antithyroglobulin antibody (TgAb) levels of 403.4 IU/mL, and diffuse thyroid lesions. The patient received hormone replacement therapy (levothyroxine), and thyroid function returned to normal.\nAfter 859 days of follow-up, the patient's TBil levels rose (31.1 mmol/L), while HBsAg was negative, and HBV-DNA was <200 IU/ml. Ursodeoxycholic acid and ademetionine 1,4-butanedisulfonate were used as liver-protecting and jaundice-reducing therapy, but TBil continued to rise, reaching a peak of 118.5 mmol/L. Liver MRI showed iron deposition in the liver parenchyma and spleen, although the patient had received no more than 20 units of suspended red blood cells, the ferritin level was 600.1 ng/ml, and no iron removal therapy was initiated. A diagnosis of liver GvHD was considered, and PDN was increased to 0.5 mg/kg/D, combined with CsA; nevertheless, TBil did not decrease significantly. After 929 days of follow-up, anti-mitochondrial antibodies were negative, while anti-smooth muscle antibodies were positive. Liver biopsy via needle puncture showed moderate lobular and portal hepatitis with bridging fibrosis and mild hemosiderin deposition, with evidence of multinucleated and rosette-like liver cells. Furthermore, chronic inflammation of the bile ducts was observed, with significant plasma cell infiltration and some atrophy, but no loss of the bile duct epithelium. Autoimmune hepatitis (AIH) was considered based on the immunohistochemistry results showing HBsAg (-), CD138 (plasma cell+), CMV (-), D-PAS staining (no alpha-1-antitrypsin granules), iron staining (slight hemosiderin deposition in liver cells), and in situ hybridization staining for EBER (-). ADV, CsA, and ademetionine 1,4-butanedisulfonate were stopped, and PDN was increased to 1 mg/kg/D. TBil decreased slightly but did not completely return to normal. PDN was slowly tapered after two weeks and gradually reduced to 0.25 mg/kg/D for maintenance therapy.\nAt D981, the patient developed fatigue. TBil and IgG were 53.9 mmol/L and 53.2 g/L, respectively, while HGB decreased (54 g/L) and reticulocytes increased (288.9x109/L). The direct antiglobulin test (DAT) was positive, and acid hemolysis test was negative. There was no history of prior infection or suspected drug use. Warm antibody-type autoimmune hemolytic anemia (AIHA) was diagnosed, and A-type washed red blood cells were transfused, with PDN increased again to 1 mg/kg/D.\nThe patient was diagnosed with glucocorticoid-refractory MAS (See Figure 1 for diagnosis and treatment history). To better control the autoimmune abnormalities, rituximab (RTX) was administered after obtaining informed consent from the patient and his family. The patient's IgG, TBil, and HGB levels started improving, and PDN was gradually reduced. By D1019, the patient's IgG levels were 25.5 g/L, TBil was 22.6 mmol/L, HGB was 102 g/L, TSH was 5.548 micro-IU/L, FT3 was 3.06 pmol/L, FT4 was 20.9 pmol/L. PDN was then reduced to a maintenance dose (10 mg/D). At the time of the last follow-up (D 1067), the patient's IgG levels were 25.4 g/L, TBil was 15.7 mmol/L, HGB was 115 g/L, and T cell subsets and B cell antigens had returned to normal levels (see Figures 2A-D).",
"gender": "Male"
}
] |
PMC11066190
|
[
{
"age": 49,
"case_id": "PMC10884290_01",
"case_text": "The patient was a 49-year-old man. At the age of 38, he developed muscle spasms and muscle twitching in the extremities and abdomen. He visited a neurology clinic at the age of 40, at which time stiff-person syndrome was initially suspected. Although a thorough examination was performed, the cause was undetermined. At that visit, his serum creatine kinase (CK) levels were within normal limits (221 IU/L, reference value: 62-287 IU/L). At the age of 46, he complained of infertility and was examined by a urologist. He was found to have severe atrophy of the testes as well as azoospermia. Chromosome analysis revealed an abnormal karyotype 47, XXY and he was diagnosed with Klinefelter syndrome (Figure 1). His serum total testosterone level at this time was 295.3 ng/mL (reference value: 142.4-923.1 ng/mL), which was at the lower limit of normal. However, his luteinizing hormone level was 21.89 mIU/mL (reference value: 0.1-8.7 mIU/mL) and follicle-stimulating hormone level was 23.95 mIU/mL (reference value: <0.3-13.8 mIU/mL), which were both above the upper limit of normal. Thus, androgen replacement therapy was initiated to treat Klinefelter syndrome. At the age of 48, he developed postural instability and tremors in the upper limbs. He visited the neurology clinic again, at which time Parkinson's disease was suspected and a thorough examination was performed; however, there were no notable abnormalities other than an elevated serum CK level of 487 U/L. Shortly thereafter, his knees began to buckle more frequently, and he could no longer climb stairs without a handrail. The frequency of muscle spasms also increased and occurred daily. He visited our department for a detailed examination at age 48.\nAt the time of his visit to our department, physical and neurological examinations indicated gynecomastia, tongue atrophy, postural tremors in both upper extremities, proximal muscle weakness, and loss of tendon reflexes in the extremities. He complained of subjective muscle twitching, but no fasciculation was visible. During this initial visit, we noticed that he had a family history of SBMA: his maternal uncle was diagnosed with SBMA at age 47 and was treated with LHRH analogs (Figure 2).\nBlood tests revealed an elevated serum CK level of 610 IU/L (reference value: 59-248 IU/L), and total testosterone level of 6.45 ng/mL (reference value: 1.71-8.71 ng/mL). Nerve conduction studies showed a decreased amplitude of sensory nerve action potentials and needle electromyography showed a markedly increased amplitude of motor unit potentials. Electrocardiography showed Brugada-type ST-segment elevation. Genetic testing revealed expanded CAG repeats (n = 46) in the AR gene, and he was diagnosed as a coincidental case of SBMA and Klinefelter syndrome. Only one peak was detected in the polymerase chain reaction test using capillary electrophoresis, indicating that both alleles of the AR gene had the same expanded CAG repeats (Figure 3).\nShortly thereafter, androgen replacement therapy was discontinued and the LHRH agonist leuprorelin was started for the treatment of SBMA. Since that time, his symptoms have remained stable, his CK levels have trended downward, and his testosterone is now at a castrate level (Figure 4).",
"gender": "Male"
}
] |
PMC10884290
|
[
{
"age": 72,
"case_id": "PMC11133675_01",
"case_text": "A 72-year-old woman with a past medical history of essential thrombocytopenia presented with a single hyperkeratotic papule on her left lower leg. Biopsy revealed cSCC and she was treated with Mohs micrographic surgery and 5-fluorouracil. Subsequently, the patient developed three new hyperkeratotic lesions that were also treated with Mohs micrographic surgery after biopsies revealed cSCC. The patient noted that these surgeries caused her excessive fatigue and impacted her ability to carry out her day-to-day activities. Soon after, the patient noticed the development of new lesions on her bilateral upper and lower extremities, back, and upper chest (Figure 1A). The patient was referred to a tertiary referral center due to the challenge of treating her \"multifocal cSCC,\" where a review at the Cutaneous Oncology Tumor Board of the original three biopsies revealed findings consistent with HLP.\nThe patient was diagnosed with HLP and was initiated for treatment with clobetasol 0.05% ointment twice daily for 2 weeks, cephalexin of 500 mg orally twice daily for 10 days, photodynamic therapy (PDT) under heated occlusion, and a 6-week course of tazarotene 0.1% cream, resulting in complete resolution of all lesions (Figures 1B,C).",
"gender": "Female"
},
{
"age": 60,
"case_id": "PMC11133675_02",
"case_text": "A 60-year-old woman with a past medical history significant for basal cell carcinoma (BCC) and small bowel and endometrial adenocarcinomas presented to the clinic with a 12 cm hyperpigmented and erythematous plaque studded with hyperkeratotic papulonodules that extended from the right inguinal fold to the right anterior thigh in a blaschkoid distribution. Her right posterior leg also had a large linear plaque studded with hyperkeratotic papules (Figures 2A,B). Further discussion with the patient revealed that many biopsies had been performed over an 8-year period from 2008 to 2016, leading to an array of diagnoses including keratoacanthoma (KA), actinic keratosis, invasive SCC, clear cell carcinoma, and sebaceous carcinoma. The patient noted that her lower extremity surgeries had a protracted course of healing, and each surgery was painful, impacting her comfort. The case and associated biopsies were reviewed at the Cutaneous Oncology Tumor Board, and the patient was diagnosed with linear HLP.\nIt is important to note that despite the patient's medical history of BCC and adenocarcinomas, genetic studies did not reveal mutL homolog 1 or mutS homolog 2 mutations, and family history was not concerning for Lynch Syndrome.\nThe patient was treated with acitretin 20 mg daily, clobetasol 0.05% cream every morning, and tretinoin 0.1% cream every night, along with shave removal of a 2.3 cm lesion on the right posterior thigh and cryotherapy of several hyperkeratotic lesions (Figure 2C). The patient returned for a follow-up appointment 6 months later, exhibiting overall good improvement (Figure 2D).",
"gender": "Female"
},
{
"age": 68,
"case_id": "PMC11133675_03",
"case_text": "A 68-year-old woman presented with two 1 cm pink lesions on the right shin and right anterior thigh. The lesion on the right shin was biopsied, revealing KA. The patient was treated with Mohs micrographic surgery with secondary intention wound management and a prolonged healing course, limiting her ability to maintain her swimming regimen.\nApproximately 6 months after the initial presentation, the patient noted scattered pink scaly papules and plaques on her neck, back, and bilateral upper extremities, with a cluster of lesions on the right lower extremity around the previous Mohs site. Biopsy of these lesions on the right shin and the right anterior thigh once again showed KA. Due to the clinical picture of multifocal inflammatory lesions, the biopsies underwent internal review at the Cutaneous Oncology Tumor Board, where they were determined to be HLP.\nThe patient was treated with acitretin 10 mg three times weekly, and the frequency was increased to 10 mg daily 3 months later. In subsequent follow-up appointments, the patient reported complete clearance of the lesions. The patient chose to self-discontinue acitretin 7 months after the diagnosis of HLP and is currently following up with her primary dermatologist.",
"gender": "Female"
}
] |
PMC11133675
|
[
{
"age": 47,
"case_id": "PMC10546644_01",
"case_text": "A 47-year-old gentleman with a history of Rheumatic Heart Disease presented with complaints of shortness of breath (New York Heart Association -III/IV). He had undergone St Jude Medical valve (SJM) replacement 25 years ago for severe mitral valve rheumatic involvement. He also had a history of thrombotic occlusion of prosthetic valve twice in the past, for which thrombolysis was done. He was admitted twice last year with breathing difficulty symptoms (NYHA III/IV) and was found to have severe left ventricular systolic dysfunction, right ventricular dysfunction with moderate aortic stenosis and moderate to severe aortic regurgitation. He was managed conservatively with diuretics, digoxin, beta blocker, ACE inhibitor and oral anticoagulants. He was advised for aortic valve replacement. However, he was lost on follow-up.\nOn examination, the patient was conscious, afebrile, and anemic with no cervical or axillary lymphadenopathy. A midline sternotomy scar was present. Pulmonary examination revealed bilateral vesicular breath sounds with crepitations. Abdominal and neurological examinations were normal. Blood pressure was 85/61 mm Hg; pulse rate- 125/min, irregularly irregular; respiratory rate-22/min. Electrocardiogram showed right axis deviation, atrial flutter with variable block, left ventricular hypertrophy with strain pattern and ventricular ectopics.\n2D-Echocardiogram showed a normally functioning prosthetic mitral valve with normal movement. There was no paravalvular leak or mitral regurgitation. The aortic valve was thickened, calcified, and showed severe aortic stenosis with Aortic valve area by Velocity time integral-0.5 cm2-. Severe aortic regurgitation (AR Pt1/2 188, AR Jet Height/Left ventricular outflow diameter=12/22) was also noted. Left ventricular ejection fraction-20-25%; Right ventricular systolic pressure-Right atrial pressure+51; Tricuspid Annular Plane Systolic Excursion (TAPSE)-17. Compression ultrasonography of both lower limbs showed no evidence of deep venous thrombosis. The laboratory findings at admission showed hemoglobin of 8.4 gm/dl (reference range [RR]; 13.8-17.2 gm/dL); total leukocyte count of 5300 cell/mm3 (RR; 4500-11000 cells/mm3); platelets of 79x103 cells/mm3 (RR;150-450x103 cells/mm3); serum creatinine-1.4 mg/dL (RR;0.8-1.2 mg/dL); serum albumin-3.2 mg/dL (RR; 3.4-5.4 mg/dL); AST/ALT-87/147U/L (RR; 7-55/8-48 U/L); Procalcitonin: 1.2 ng/mL (RR; 0.1-0.49 ng/mL). Blood and urine cultures were sterile at the time of admission. He was managed with diuretics, beta-blockers, and ACE inhibitors and planned for aortic valve replacement. Due to economic constraints, aortic valve replacement was deferred by relatives. He initially responded with adequate diuresis. He became febrile during his hospital stay after 33 days of admission. Later, he developed cardiorespiratory arrest, from which he could not be revived.",
"gender": "Male"
}
] |
PMC10546644
|
[
{
"age": 79,
"case_id": "PMC10777760_01",
"case_text": "A 79-year-old man with a past medical history of idiopathic compensated cirrhosis, diabetes, metabolic syndrome, hypertension, dyslipidemia, and coronary artery disease presented to the emergency room with 2 days of jaundice and scleral icterus. The patient also noted darkening of his urine 2 weeks prior and intermittent clay-colored stools for 2 months. The patient had previously undergone extensive evaluation for a 4-year history of slow elevation of aspartate aminotransferase and alkaline phosphatase of unknown cause. During that time, his other symptoms included weight loss, intermittent dark discoloration of urine, intermittent clay-colored stools, abdominal and leg swelling, muscle cramping, tender gynecomastia, and intermittent pruritus. Magnetic resonance imaging performed 2 years earlier revealed cirrhotic liver morphology with confluent bands of enhancing fibrosis, periumbilical and upper abdominal venous collaterals and trace ascites. He was presumed to have cryptogenic cirrhosis with portal hypertension. Prior to the current presentation, his cirrhosis had been compensated with no evidence of jaundice, hepatic encephalopathy, ascites, or variceal bleeding.\nOf note, the patient's diabetes was poorly controlled with HbA1c 9.2% 5 months before presentation. He was also taking icosapent ethyl for hyperlipidemia due to a history of intolerance to multiple statins (atorvastatin, simvastatin, lovastatin), having previously developed severe myalgia and malaise, although no rhabdomyolysis had been documented. Other medications included aspirin 81 mg and carvedilol 3.125 mg for coronary artery disease and hypertension.\nOn presentation, the patient was hemodynamically stable, with heart rate 91, respiratory rate 18, blood pressure 166/62 mm Hg, and temperature 97.5 F. Body mass index (BMI) was 26.3 kg/m3. Physical examination showed scleral icterus, generalized jaundice, a distended non-tender abdomen, and bilateral pitting edema up to the knees. Initial laboratory studies were notable for marked direct hyperbilirubinemia with total bilirubin 27.9 and conjugated bilirubin 21.6. The elevation of transaminases was present with alanine aminotransferase 157 and aspartate aminotransferase 409. Calculated MELD-Na score was 30. Lipid panel showed total cholesterol 187, low-density lipoprotein (LDL) 148, high-density lipoprotein (HDL) 19, and triglycerides 108. Given laboratory pattern consistent with obstructive jaundice, we obtained a right upper quadrant ultrasound, which revealed cirrhotic liver morphology and non-specific gallbladder wall thickening. No biliary duct dilatation, cholelithiasis, or biliary sludge was noted. Sonographic Murphy's sign was negative. We investigated infectious, toxic, and autoimmune etiologies of cholestatic jaundice, including viral hepatitis, anti-mitochondrial antibody, acetaminophen, and ethyl glucuronide, which were all unremarkable.\nSubsequent abdominal computed tomography was performed to exclude intra-abdominal infection. This demonstrated liver cirrhosis with sequela of portal hypertension, small volume ascites, portal colopathy, and esophageal varices (Figure 1). No cause of biliary obstruction was identified.\nDuring hospitalization, direct hyperbilirubinemia continued to worsen with subsequent development of hepatic encephalopathy and somnolence on day 3. We initiated lactulose, rifaximin, and zinc, but there was minimal improvement. We pursued a transjugular liver biopsy given rapidly decompensating cirrhosis. Results demonstrated marked cholestasis with ballooning degeneration and patchy areas of globular accumulation. Mild mixed portal tract infiltrates with focal ductal proliferation were noted without ductopenia. Features of steatohepatitis with Mallory hyaline and sinusoidal fibrosis were also noted (Figure 2). These histological features favored a chronic, toxic metabolic injury. Given the patient's lack of exposure to common hepatotoxic medications, we performed an extensive review of current and past hepatotoxic substances. This uncovered self-initiated daily use of extended-release 2500 mg niacin for the past 15 years as an adjunct treatment for hyperlipidemia. No other cause of toxic metabolic injury was identified, including lack of alcohol and tobacco exposure. As patient continued to clinically decline, we attempted systemic corticosteroids, and consulted hepatology for possible liver transplant. The patient was considered a poor candidate for transplantation due to his advanced age and comorbidities. Despite the medical team's effort, the patient developed refractory hypotension and stupor. A family meeting was arranged, after which escalation of care was deemed inconsistent with the patient's wishes. The patient expired on day 16 of hospitalization.",
"gender": "Male"
}
] |
PMC10777760
|
[
{
"age": 42,
"case_id": "PMC10927220_01",
"case_text": "A 42-year-old female originally presented with a ruptured right middle cerebral artery (MCA) aneurysm treated with successful aneurysm clipping and subsequent cranioplasty [Figure 1]. She then developed significant left upper extremity (LUE) and left lower extremity (LLE) CPSP (8/10 pain level) that was not relieved with Neurontin or Cymbalta. Nine months after her original surgery, she underwent a thoracic laminectomy and implantation of a 5-column paddle lead SCS system with somatosensory evoked potential monitoring (i.e., this followed a prior successful thoracic SCS trial resulting in 90% LLE pain relief) [Figure 2a]. As the thoracic stimulator significantly relieved LLE pain, the patient later underwent a cervical laminectomy and implantation of a 5-column paddle lead SCS system to address her LUE pain [Figure 2b]. Although, three months later, the cervical SCS system had to be removed due to infection, it was reimplanted following infection resolution. With the combined SCS systems, the patient reported 80-90% pain relief (i.e., using BurstDR programming) [Figure 3].",
"gender": "Female"
},
{
"age": 75,
"case_id": "PMC10927220_02",
"case_text": "A 75-year-old female had an ischemic stroke involving the M1 segment of the right MCA. Following endovascular treatment, she was discharged to inpatient rehabilitation on aspirin and Plavix. One week later, she additionally sustained a left thalamic MCA stroke, resulting in weakness, an abnormal gait, aphasia, and a CPSP [Figure 4]. Two years later, she was evaluated for SCS placement to address persistent right-sided hemibody numbness and allodynia (10/10 pain level) despite the administration of Lyrica, Cymbalta, and Neurontin. Ten months following the initial consultation, she underwent a C1 laminectomy with implantation of a high cervical 5-column paddle lead SCS system (i.e., following a prior successful SCS trial) [Figure 5]. Nine months postoperatively, the right hemibody pain and function of the right upper and lower extremities had improved (i.e., using BurstDR programming) [Figure 6].",
"gender": "Female"
}
] |
PMC10927220
|
[
{
"age": 65,
"case_id": "PMC10847006_01",
"case_text": "A 65-year-old female presented with intermittent episodes characterized by a sensation of chest tightness and a perception of something attempting to traverse her chest. She could manage stairs without feeling breathless but occasionally sensed difficulty in food or liquid passage down her chest.\nThe patient had no significant symptoms or abnormalities in various body systems. She denied fevers, cough, shortness of breath, chest pain, nausea, vomiting, diarrhea, constipation, hematuria, nocturia, discharge, dysuria, back pain, neck pain, joint pain, muscle pain, rash, or pruritus. She also had no changes in vision or eye pain and was alert and oriented without any headaches. All systems reviewed were negative. The patient appeared to be in good health overall with no acute distress; normal eye, head, and neck exams; and no respiratory or neurological issues. \nOn performing a CT scan of the chest, a 5 cm complex cyst in a subcarinal area extending next to the heart, as shown in Figure 1, was observed. After consulting with the department of pulmonology, it was revealed to be a large symptomatic subcarinal BC, which required immediate resection. After evaluation with thoracic surgery, resection of the mediastinal mass with robotic surgery was recommended. \nThe surgery involved the removal of the cyst from the posterior mediastinum in the subcarinal position. The cyst was identified in the posterior mediastinum in the subcarinal position. The cyst was covered with a thick layer of inflammatory tissue. It ultimately appeared that the cyst was intra-pericardial as the inferior aspect of the cyst could not be determined. The esophagus and bronchus were clearly visualized and were maintained free from the field of dissection at all times. The dissection was made along the superior border of the inferior pulmonary vein. This helped in the identification of a plane between the pulmonary vein and the cyst. At this point, we realized that the cyst was not intra-pericardial. We then proceeded to mobilize the cyst free from the surrounding structures using the bipolar electrocautery at all times. Great care was taken to avoid damage to any of the surrounding structures. The cyst was then crossed to obtain traction to facilitate its dissection and definition of its borders. \nEventually, the cyst was ruptured. The fluid was completely aspirated. Some of the fluid was sent for culture. We then proceeded to remove the remaining portion of the cyst, which was removed in its entirety leaving no portion of the wall behind. We inspected for hemostasis, which was noted to be adequate. A 19 French Blake drain was then positioned posteriorly in the right chest with portions of it coursing through the surgical bed. The chest was irrigated with large volumes of antibiotic and saline solution and again inspected for hemostasis, which was noted to be adequate. Rib blocks were performed in the standard fashion using bupivacaine. No complications were noted.\nThe final report of the resected specimen from the department of pathology is as follows: gross: \"The specimen is labeled 'mediastinal cyst' and demonstrates a segment of pink-tan cystic structure measuring 2.4 x 1.6 x 0.9 cm. The external surface is inked black. The specimen is serially sectioned to reveal a cystic cut surface.\" microscopic: \"Negative for malignancy.\"",
"gender": "Female"
}
] |
PMC10847006
|
[
{
"age": 52,
"case_id": "PMC10601725_01",
"case_text": "The patient is a 52-year-old transman who had been receiving testosterone cypionate 50 mg/week IM intermittently for the last 2 years. Figure 1 displays a timeline summarizing the main clinical events. The patient initially presented with a self-palpated right breast mass in October 2020. Diagnostic bilateral breast imaging in February 2021 revealed a simple cyst in the right breast - at the site of the patient's complaint - and a 0.6 cm group of coarse heterogeneous calcifications in the left breast. The left breast calcifications were recommended for a core needle biopsy, which reported atypical ductal hyperplasia (ADH; Fig. 2). Subsequently, 7 months later, the patient underwent left breast excisional biopsy of the ADH. Pathology of the excisional biopsy was upgraded to invasive cancer - a single focus of a 4 mm invasive ductal carcinoma (grade 2, ER+, PR+, and HER2-), and ductal carcinoma in situ (DCIS; intermediate nuclear grade) were identified (Fig. 3).\nGiven the upgrade to invasive breast cancer and a positive superior margin, margin re-excision and sentinel lymph node biopsy (SLNB) were performed. Margin re-excision reported DCIS of intermediate nuclear grade, ADH, and flat epithelial atypia. Three sentinel lymph nodes were negative for carcinoma. His Oncotype Dx score was 14; therefore, chemotherapy was not recommended. He completed adjuvant radiation to the left breast in January 2022 and started tamoxifen shortly after.",
"gender": "Male"
},
{
"age": 13,
"case_id": "PMC10601725_02",
"case_text": "Of note, the patient had a strong family history of lung cancer (father diagnosed at 68 and maternal uncle diagnosed at 35) and breast cancer (sister diagnosed at 36). The patient underwent genetic testing using the Invitae Breast Cancer STAT Panel consisting of nine well-established breast cancer susceptibility genes - ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, STK11, and TP53 - and was negative. At the time of his invasive cancer diagnosis, the patient was premenopausal (estradiol 398 pg/mL), had been a smoker for over 20 years (up to three cigarettes a day), occasional alcohol drinker, and led a healthy lifestyle (exercised x5 a week). As for his reproductive risk factors, his age of menarche was between 12 and 13 years old and he had never been pregnant.\nThe patient provided written informed consent to take part in the study. The CARE Checklist has been completed by the authors for this case report, attached as online supplementary (for all online suppl. material, see https://doi.org/10.1159/000529859).",
"gender": "Female"
}
] |
PMC10601725
|
[
{
"age": 65,
"case_id": "PMC10853011_01",
"case_text": "A 65-year-old male with no significant medical history presented to the primary care physician (PCP) on 10/25/22, with the main concern for progressive breast sensitivity and enlargement for two months, associated with weight loss but the exact specifics of weight changes were not known to the patient. These symptoms were noted during the time the patient injured his right hip after a ground-level fall on 08/30/22 before he underwent right hip hemiarthroplasty on 09/02/22. He had no other medications at home including over-the-counter (OTC) supplements. He denied any changes in libido, morning erections, or shaving frequency. Other reviews of systems were negative including autoimmune conditions, liver or kidney stigmata, alcohol use, chronic opioid use, or any other drug use. Vitals signs were unremarkable. At the time of symptom onset, his calculated BMI was 18 kg/m2. Physical examination of the breast revealed the presence of sensitive bilateral crusty nipples with palpable nodules of about 4 cm with no discharge. The rest of the physical exam was normal, including testicular exam.\nUltrasound of breasts done on 11/16/22 showed bilateral benign-appearing masses in the subareolar region with no pathologic calcifications or architectural distortion consistent with bilateral gynecomastia, no specific size measure was reported on ultrasound. The mammogram was difficult to perform due to the patient's lean body habitus. Initial evaluation before the right hemiarthroplasty as shown in Table 1 revealed suppressed thyroid-stimulating hormone (TSH) levels and elevated free thyroxine (FT4). The patient was not placed on any therapy. After two months, further workup with his PCP again demonstrated suppressed TSH levels and high normal FT4. A thyroid function panel was ordered by PCP due to the patient's history of subclinical hyperthyroidism and to evaluate this as the underlying etiology of his gynecomastia. Lab results also showed elevated estradiol level, elevated SHBG, elevated total testosterone, normal free testosterone, normal human chorionic gonadotropin (hCG) beta-subunit, and normal prolactin level (Table 1).\nFollowing this, the patient was referred to our endocrinology department. The patient was seen by an Endocrinologist six months post-symptom onset and reported that his symptoms had resolved spontaneously. Physical exam including breasts and thyroid was normal. By this time his BMI had improved to 28, over the last six months.\nRepeated labs showed a persistent suppressed TSH but improved relative to the previous level, a normal FT4, and negative thyroid-stimulating immunoglobulin (TSI). Levels of total testosterone, SHBG, and estradiol reverted to normal. All initial and follow-up labs are shown in Table 1.\nAlthough TSH remained suppressed on follow-up labs, it improved compared to the previous value, along with the asymptomatic state of the patient and a negative TSI as mentioned; a diagnosis of transient hyperthyroidism was made. However, the radioactive uptake scan and thyroid ultrasound could not be completed due to patient transportation issues. As the patient was asymptomatic, no further treatment was needed. The patient reported difficulties in following up with different physician's appointments, as he lives alone and has transportation issues. He was instructed to follow up with his PCP for repeat thyroid labs in three months and to come back to the Endocrinology clinic if requested by PCP. Unfortunately, he was lost to follow-up.",
"gender": "Male"
}
] |
PMC10853011
|
[
{
"age": 67,
"case_id": "PMC11301645_01",
"case_text": "A 67-year-old male patient was admitted to our respiratory department on January 8, 2024, with the chief complaint of a \"recurrent cough with sputum for over six years, aggravated for more than one month\". The admission echocardiogram (Figure 1A) and electrocardiogram (Figure 2) showed no significant abnormalities in cardiac structure and function. High-sensitivity troponin I was measured at 0.012 ng/ml (normal range: 0-0.0535 ng/ml), and BNP was 187.1 pg/ml (normal range: 0-125 pg/ml). The patient had a history of chronic obstructive pulmonary disease for over six years, no history of allergies, and no other significant medical history.\nAfter admission, the patient received latamoxef for infection, theophylline for bronchodilation, and omeprazole for gastric acid suppression. After about a week of treatment, the patient's cough and sputum symptoms significantly improved, all indicators returned to normal, and no fever, chest tightness, wheezing, or any other discomfort remained. It was planned to discharge the patient on January 18. On January 8, the patient received intravenous latamoxef infusion (1.5 g, twice daily), and after each infusion he experienced palpitations and uneasiness, but the patient confirmed these symptoms were mild and tolerable. Therefore it did not raise concerns for the patient or the respiratory department physicians.\nHowever, on the afternoon of January 17 at 15:40, approximately 27 mins after the last dose of latamoxef infusion, the patient developed dyspnea, difficulty breathing, chills, sweating, and fever. The latamoxef infusion was immediately stopped, and methylprednisolone 40 mg was administered intravenously. However, the patient's consciousness deteriorated further, with delayed responses, cold extremities, decreased blood pressure, pulse oximetry saturation, and respiratory status. The respiratory department urgently contacted the ICU for endotracheal intubation and mechanical ventilation assistance. The patient was transferred to the ICU for monitoring and treatment.\nAfter being admitted to the ICU, the patient quickly developed purpura on both lower limbs, causing the whole body feeling cold and clammy. At this time, the patient's vital signs were as follows: temperature of 36 degrees Celsius, heart rate of 152 beats per minute, blood pressure of 75/46 mmHg, respiratory rate of 35 breaths per minute, and oxygen saturation of 96%. We immediately administered epinephrine to maintain blood pressure, along with milrinone for cardiac support, and used a ventilator to assist the patient's breathing. Bedside echocardiography indicated the patient's left ventricular ejection fraction (EF) was 30%-40%, with segmental dysfunction of the left ventricle and a rounded apex, suggesting the possibility of stress-induced cardiomyopathy (Figure 1B). Chest CT indicated bronchospasm without clear signs of infection (Figure 3). Emergency blood tests showed high-sensitivity troponin I at 3.24 ng/ml and BNP at 4850.2 pg/ml. The electrocardiogram showed extreme clockwise rotation, left atrial abnormality, abnormal Q waves in leads I and aVL, poor progression of R waves from leads V1 to V6, ST segment elevation of 0.05-0.15 mV in leads V3-V6, and T-wave changes (Figure 4). After a consultation with the cardiology team, emergency percutaneous coronary intervention (PCI) was recommended.\nEmergency coronary angiography revealed approximately 50% eccentric stenosis in the mid-segment of the left anterior descending coronary artery and approximately 50% eccentric stenosis in the mid-segment of the right coronary artery, with no significant abnormalities in other vessels (Figure 5). Following the coronary angiography procedure, the patient returned to the ICU for further treatment. Hemodynamic monitoring showed: cardiac output (CO) of 3.4 L/min, cardiac index (CI) of 1.9 L/min/m2, stroke volume (SV) of 27 ml, stroke volume index (SVI) of 16 ml/m2, systemic vascular resistance (SVR) of 1,250 dynes s/cm5, systemic vascular resistance index (SVRI) of 2,192 dynes s/cm5/m2, extravascular lung water (EVLW) of 435 ml, extravascular lung water index (EVLWI) of 6.6 ml/kg, global end-diastolic volume (GEDV) of 828 ml, and global end-diastolic volume index (GEDVI) of 469 ml/m2, consistent with features of cardiogenic shock.\nAlthough the patient's blood tests did not show a significant increase in eosinophils and blood IgE levels, the evidence for diagnosing allergic diseases seemed insufficient, which is why anti-allergy treatment was not initially administered. However, results from tests such as chest CT, head CT, blood cultures, abdominal ultrasound, and coronary angiography ruled out conditions like sepsis-induced septic myocarditis, acute myocardial infarction, or structural heart diseases. Considering the patient's medical history and presentation at the onset of symptoms, it is still plausible to consider coronary artery spasm due to a latamoxef allergy leading to Kounis syndrome, possibly compounded by stress-induced cardiomyopathy. Therefore, the patient was continuously given norepinephrine to maintain blood pressure, milrinone for cardiac support, and appropriate fluid replacement to optimize preload. Despite discontinuing the use of epinephrine, the patient's condition worsened, and the family decided to withdraw life-saving treatments. The patient passed away on January 19, 2024. Cause of death: cardiogenic shock.",
"gender": "Male"
}
] |
PMC11301645
|
[
{
"age": 31,
"case_id": "PMC10725136_01",
"case_text": "A 31-year-old man with no significant past medical history presented with right-sided testicular swelling. He underwent radical orchiectomy and pathology showed embryonic-type neuroectodermal tumor, which had arisen from a 6.1-cm teratoma (Figure 1). He subsequently underwent a retroperitoneal lymph node dissection, which was negative for malignancy.\nHe was monitored with surveillance blood tests, including alpha-fetoprotein (AFP) and beta-human chorionic gonadotropin (beta-hCG) and imaging. Both AFP and beta-HCG remained undetectable. About 15 months after initial diagnosis, surveillance imaging was concerning for disease progression with chest x-ray demonstrating a new lesion. A computed tomography (CT) thorax was performed for better characterization (Figure 2). This demonstrated a left upper lobe lung mass with mediastinal invasion and compression of the left main pulmonary artery and left upper lobe bronchus, with near complete occlusion. The CT abdomen did not demonstrate metastasis. The patient also experienced compressive symptoms from mediastinal mass including hoarseness, likely due to compression of recurrent laryngeal nerve, and shortness of breath on exertion.\nA fine-needle aspiration and core biopsy of the mass showed small round cell malignant neoplasm, consistent with the previously diagnosed ENET (Figure 3).\nHe started chemotherapy with cyclophosphamide and doxorubicin-based regimen alternating with vincristine, ifosfamide, and etoposide. He also received pegfilgrastim support. After 4 cycles of treatment, follow-up chest imaging showed presence of mass, but interval decrease in size (Figure 4). Patient had improvement in his compressive symptoms as well. He is planned for follow-up with urologist and cardiothoracic surgeon to discuss possible surgical options.",
"gender": "Male"
}
] |
PMC10725136
|
[
{
"age": 57,
"case_id": "PMC10927172_01",
"case_text": "A 57-year-old female presented with sudden-onset severe headache, photophobia, and drowsiness to the emergency department in a hospital located in Babylon, Iraq. The initial non-contrast computed tomography (CT) scan showed subarachnoid hemorrhage (SAH) in the basal cistern [Figure 1]. The patient was admitted to the neurology ward for observation and symptomatic management, after which her relatives approached our team for a second opinion. We advised the patient's family to conduct a CT angiogram (CTA); the patient's healthcare team informed the family that CTA would be harmful to the patient within two weeks of presentation and would not provide conclusive results. This statement contradicts the international guidelines, which recommend urgent treatment for suspected ruptured intracranial aneurysms, and indicates CTA as the investigation of choice for cases of SAH due to aneurysmal rupture. However, it is essential to note that those guidelines are not considered standard guidelines in the Iraqi health system and transfer.\nFollowing this, based on our request, the patient's family took the responsibility on themselves to transfer the patient, and a CTA was conducted in a nearby private facility. This should not be a usual instant where the family takes responsibility for taking steps in the management of a potentially life-threatening case such as SAH. In addition, more patient transfer in a nonambulance or hospital-supervised facility has its risks. Moreover, the report of the CTA showed that it was negative for any aneurysm and any other vascular malformation. This finding was a disastrous part of this case, as it will show in further investigations.\nThe patient and the family had two options: stay at home based on the imaging findings or travel a 140-mile trip from Babylon to Baghdad to reach our neurovascular center (Baghdad Neurosurgery Teaching Hospital) through a personal, non-equipped vehicle [Figure 1]. The family chose the latter option and arrived at our center. After an initial assessment of the patient and revision of the investigations, we decided to conduct a diagnostic catheter angiography, which surprisingly revealed not one but four aneurysms. Those aneurysms included aneurysms in the right posterior communicating artery (PComA), superior hypophyseal artery, intraorbital ophthalmic arteries, and left PComA [Figure 2].\nDue to the lack of medical insurance in Iraq and the high financial burden for endovascular treatment that can be applied in such cases of multiple aneurysms, the family decided that they could not afford such costly intervention. As a result, the only viable option left was to do open surgery. Hence, we opt to target the tandem right PComA aneurysm, the adjacent superior hypophyseal aneurysm, based on the location of SAH in the initial CT where we suspect the rupture has occurred on the right side [Figure 1].\nA right pterional approach was performed, and the right Sylvian fissure was retracted to expose and dissect the supraclinoid internal carotid artery; we started by clipping the right PComA aneurysm due to the presence of a daughter cyst, and there was an ipsilateral vasospasm of A1 and M1 portions of the anterior and middle cerebral arteries, respectively, on the angiography making it our initial target. However, after clipping, we were convinced that the PComA aneurysm was not the ruptured one. While trying to explore the adjacent right hypophyseal aneurysm, we encountered a huge intraoperative rupture from it that was managed promptly by applying a pilot clip followed by a dissection of the neck. Then, we secured the aneurysmal neck with a permanent clip. The rest of the surgery went uneventful, with no subsequent operative or postoperative complications.\nFor the remaining two aneurysms, we decided on a watchful follow-up as a next step, with serial follow-up imaging every three months. Both aneurysms were asymptomatic and stable in size and shape at 18 months of follow-up.",
"gender": "Female"
}
] |
PMC10927172
|
[
{
"age": 37,
"case_id": "PMC11137782_01",
"case_text": "A 37-year-old female patient presented with abdominal distension and abdominal mass for 2 months, no abdominal pain and hematuresis, was admitted to department of oncology in Chinese PLA General Hospital on 7 September 2022. Ultrasonography of abdomen on admission revealed a hypoechoic mass in the right kidney. Abdominal magnetic resonance imaging (MRI) revealed a space-occupying lesion in the right kidney with multiple lymph node metastases compressing the right renal vein and inferior vena cava (Figure 2A). A computed tomography scan (CT-SCAN) revealed multiple mediastinum lymph node metastasis (Figure 2B).\nTo confirm the diagnosis and identify metastatic sites in the whole body, whole body positron emission tomography-computed tomography (PET-CT) was performed, which showed a highly metabolic irregular mass in right kidney with heterogeneous density (120mm*108 mm, SUVmax:15.2) and the border demarcation between the masses and the liver were indistinct, PET-CT also indicated that several hypermetabolic lymph nodes, including left supraclavicular lymph nodes (SUVmax:10.2), bilateral subclavicular lymph node(SUVmax:10.2), mediastinum lymph nodes (SUVmax:9.2), hilar lymph nodes (SUVmax:9.2), retroperitoneal lymph nodes (SUVmax:10.3), pelvic lymph nodes (SUVmax:15.8), lymph nodes located around the lower esophagus and spine (SUVmax:9.2); the soft tissue density shadows was seen in the inferior vena cava and right renal vein, with increased metabolism (SUVmax:13.5) (Figure 1). Then, the patient underwent ultrasound-guided needle biopsy of tumor tissue in the right kidney, and the pathologic result showed small round blue cell tumors in the biopsy tissue, which was morphologically compatible with nephroblastoma, and the immunohistochemistry results showed positive expression of CK, WT1, BCL2, CD56, Vimentin, Syn, TLE-1 and SMA proteins, while Desmin, CD99, S100 and FLY-1 proteins were negative. The Ki-67 index was 70%, and PD-L1 (SP263) and Her-2 expressions were negative (Figure 3). Genetic test results showed TP53 mutation (exon5 c.524G>A p.R175H). Based on COG staging system, the patient was diagnosed at stage IV. After discussion by a MDT with doctors of urology surgery, oncology, radiation oncology and interventional radiography, a consensus of systemic therapy was reached and radiation therapy can be given for well controlled conditions. Thus, a therapeutic strategy of chemotherapy (nab-paclitaxel plus carboplatin) combined with anti-PD-1 antibody (sintilimab) and VEGF-targeted therapy (bevacizumab) was developed for the patient, considering the synergistic effect of chemotherapy, anti-angiogenesis and immunotherapy. After two cycles of treatment, the patient obtained partial response with the mass in the right kidney significantly reduced and supraclavicular lymph nodes, bilateral subclavicular lymph nodes and mediastinum lymph nodes were almost invisible (Figure 2C & D). Only grade 2 myelosuppression occurred during the first two cycles of treatment. From October 2022 to January 2023, the patients received four cycles of treatment, and the assessment was still partial response (Figure 2E & E). Due to the invasion of the right renal vein and inferior vena cava after four cycles of treatment, the patient was still not suitable for surgery after discussion by a multidisciplinary team. Unfortunately, the patient was infected with COVID-19 and the immunotherapy was discontinued in case of pneumonia. Thereafter, the patient received two cycles of nab-paclitaxel plus bevacizumab as maintenance treatment. Up to the last follow-up time (April 2023), the patient achieved a PFS of 6 months without disease progression.",
"gender": "Female"
}
] |
PMC11137782
|
[
{
"age": 34,
"case_id": "PMC10788212_01",
"case_text": "A 34-year-old male with a 3-year history of urinary pain and urgency, exacerbated before bedtime, presented at our hospital. He experienced 10-20 urination episodes daily, sometimes passing yellow-green lithotripsy foreign bodies. His urine contained gravel and yellow-green soft matter but no significant low back or abdominal pain.Abdominal CT imaging revealed bladder calculi (Fig. 1). Transurethral laser lithotripsy was performed the following day, after ruling out contraindications. Intraoperative findings showed a full bladder with small bubbles and trabecular compartments in the posterior wall. Post-surgery, a small yellow-green residue was noticed in the urinary catheter, and the patient had watery stools. Considering the symptoms, an intestinal fistula was suspected. No canal shadow was detected in the rectum, bladder, and prostate magnetic resonance plain scan. Barium meal and colonoscopy examinations showed no abnormalities. Cystography revealed leakage of linear contrast agent from the right posterior parietal wall, with the ascending colon involved. The colon was found to be communicating with the contrast agent. The bladder was full, without any filling defect(Fig. 2).The patient then underwent laparoscopic exploration, including gastrointestinal fistula resection, appendectomy, partial cystectomy, and urinary tract repair. During the procedure, the pelvic floor, cecum, and appendix were meticulously exposed(Fig. 3). The postoperative diagnosis revealed: 1. Appendiceal vesical fistula 2. Bladder diverticulum. Post-operatively, urine was successfully evacuated, and no abdominal distension, pain, or difficulty in defecation was experienced on the first postoperative day.\nThe pathological findings revealed inflammatory lesions consistent with chronic appendicitis. The appendix displayed a smooth surface, a fecalith-filled lumen, and no perforation (Fig. 3).",
"gender": "Male"
}
] |
PMC10788212
|
[
{
"age": 14,
"case_id": "PMC11300043_01",
"case_text": "On October 19, 2021, a 14-year-old boy presented to a local hospital in India with complaints of intermittent fever and abdominal distension with left upper quadrant dragging sensation in the last month. The complete blood count was hemoglobin (Hb) 10.0 g/dL, white blood cell (WBC) count 430,000/muL, and platelet (Plt) count 120,000/muL. The peripheral blood (PB) smear differential cell count exhibited neutrophils and band cells at 38%, lymphocytes at 8%, monocytes at 2%, eosinophils at 4%, basophils at 2%, myelocytes at 20%, metamyelocytes at 20%, promyelocytes at 2%, and blasts at 4%.\nA bone marrow (BM) aspiration (Oct 23, 2021) showed a hypercellular marrow with a heavily increased myeloid-to-erythroid ratio, an impressive myeloid shift to the left, with slightly increased basophils of 3% and blasts of 7%. This prompted a diagnosis of CML which was confirmed by cytogenetics applying the fluorescence in situ hybridization (FISH) technique demonstrating translocation t(9;22)(q34;q11.2):the Philadelphia chromosome:in 98% of the interphase cells. The child was started on hydroxyurea (50 mg/kg), allopurinol (300 mg/sqm), and imatinib (300 mg/sqm) and was referred to Tata Memorial Hospital in Mumbai.\nThe family took about a week to reach the referral hospital, and 4 days prior to presentation in the referral hospital, the boy developed a continuous, painful penile erection, and in addition, he complained of decreased vision on his left eye for the last 2-3 days. A full blood count at the referral hospital showed Hb 9.0 g/dL, WBC 180,000/muL, and Plts 810,000/muL. The PB smear differential count showed neutrophils at 62%, lymphocytes at 4%, monocytes at 7%, eosinophils at 8%, basophils at 8%, myelocytes at 4%, metamyelocytes at 6%, and blasts at 1%. Karyotyping (FISH techniques) of interphase cells from PB confirmed the BCR::ABL1 gene fusion in 98% of cells, and a molecular analysis by reverse transcription-polymerase chain reaction (RT-PCR) detected the BCR::ABL1 (p210) transcript. The BM analysis confirmed the morphological findings from the referring hospital with the exception that only 1% of blasts were detected. In an immunophenotypic (FACS) analysis, no abnormal blasts were identified. A molecular analysis on tyrosine kinase domain mutations detected no variant BCR::ABL1.\nTreatment was initiated with hydration paralleled with cytarabine (100 mg/m2) x 4 days, and hydroxyurea and imatinib were continued. This prompted a reduction of the WBC to 57,000/muL by Day 5, and therefore, the leukostasis syndrome measures were stopped while hydroxyurea and imatinib were continued. By Day 10, the WBC had dropped to 12,000/muL and hydroxyurea was tapered while imatinib was continued.\nApproaches to treat the priapism comprised wide bore needle aspiration which did not result in penile detumescence. Therefore, on Day 2 of admission to the referral hospital (7 days from the onset of priapism), a distal shunt surgery was performed with a Bennett shunt. Ophthalmologic inspection confirmed left eye painless loss of vision. Findings concluded a vitreous hemorrhage. During the course of treatment, the boy developed secondary glaucoma which was controlled on topical antiglaucoma measures.\nResults of the follow-up examinations at defined time points as indicated are listed in Table 1. Cytogenetic remission was confirmed in the PB at Month 8 and major molecular response (MMR) (MR3 = <0.1% BCR::ABL1 transcript ratio) at Month 11. With a good adherence to imatinib treatment, the child is doing well. However, the left eye has no vision and there is a total loss of penile erectile function.",
"gender": "Male"
}
] |
PMC11300043
|
[
{
"age": 30,
"case_id": "PMC10663086_01",
"case_text": "A 30-year-old Caucasian female with a past medical history of exercise induced asthma, polycystic ovarian syndrome, obesity, migraines, hypermobility, irritable bowel syndrome, depression, anxiety, and attention deficit hyperactivity disorder was admitted to an outside hospital with blistering skin lesions covering 30%-40% of her body for 12 days after receipt of a COVID-19 messenger ribonucleic acid (mRNA)-1273 vaccine. She reported allergies to topiramate (respiratory distress), cephalosporins (gastrointestinal upset), and benzalkonium chloride (rash). Her home medications included ibuprofen as needed, modafinil, aripiprazole, buspirone, oral cholecalciferol, citalopram, cyanocobalamin, ferrous sulfate, hydroxyzine, linaclotide, mono-linyah, and triamcinolone ointment. She had been on all medications a minimum of 10 weeks prior to presentation.\nThe patient and her husband both received the mRNA-1273 vaccine on the same day. That night, she noticed swelling in her fingers that prompted her to take ibuprofen, which she had taken as needed prior to that day. Two days later, she noticed a cluster of skin lesions around the injection site on her left arm. These symptoms prompted her to visit her primary care provider, who prescribed prednisone, cetirizine, and hydroxyzine. By Day 12 after injection, her rash continued to spread and she was seen at an outside dermatology clinic. Presumed diagnosis at the dermatology clinic was erythema multiforme (EM) versus Stevens-Johnson syndrome (SJS) due to classic targetoid lesion appearance of her rash (Figure 1). Biopsy showed \"interface dermatitis with dyskeratotic epidermis, intact stratum corneum, and focal re-epithelialization\" consistent with EM. That same day, she was sent to the emergency department again for admission. On admission, her rash was described as \"confluent diffuse erythematous targetoid rash\" on the face and chest with bullae present in the axillae and back. She was also noted to have some skin sloughing on the back, scattered lesions on her abdomen and legs, and desquamating oral lesions with crusting around her eyes and injection of the conjunctive (Figure 1). During this admission, she tested negative for COVID-19 and was treated with methylprednisolone 125 mcg every 6 hr planned for 5 days. After she failed to improve, she was given IV flebogamma 5%. The patient reported the use of benzalkonium chloride spray on her back at some time during her admission that led to worsening of the skin on her back with more blistering and sloughing. As she continued to worsen, our hospital was contacted for admission to the burn unit for care.\nTransfer occurred on Day 16 after vaccination. Dermatology recommended hydroxyzine 25 mg nightly, cetirizine 10 mg twice daily, and a dexamethasone 0.1 mg/mL rinse for mouth lesions with an antiseptic diluted chlorohexidine rinse. Over the course of her admission to our hospital, total body surface area (TBSA) coverage was estimated at 30%-40%, suggesting progression to toxic epidermal necrolysis (TEN). Psychiatry was also consulted for management of the patient's psychiatric medications and her modafinil and aripiprazole were stopped on suspicion of being a cause of her TEN. Psychiatry restarted her on buspirone and citalopram. The patient was discharged home on Day 21. Of note, our patient reported a colonoscopy with prep (polyethylene glycol (PEG) 3350) that occurred after her TEN reaction without incident.",
"gender": "Female"
}
] |
PMC10663086
|
[
{
"age": 43,
"case_id": "PMC10578331_01",
"case_text": "A 43-year-old, diabetic man of white European descent with 2.5 years of fluctuating yet overall progressive behavioral and cognitive change was evaluated at the University of Kansas Memory Clinic. In spring, 2019 he presented to a hospital emergency department following a near-drowning event. The next day he phoned friends with no apparent purpose, sounded confused, and was returned to that hospital where he was diagnosed with diabetic ketoacidosis and told a head CT revealed remote \"ministrokes.\" He moved in with his mother and took leave from his job, improved over the next several months, and that autumn returned to independent living and his job.\nOver the next year he uncharacteristically did not initiate family contact. In October 2020, friends told his mother he was acting strange. At the local hospital, he was again diagnosed with diabetic ketoacidosis, and contributions from alcohol and possibly recreational drug use (urine toxicology was positive for amphetamines) were considered. His mother assumed his diabetes management and eliminated alcohol and recreational drug access. He initially improved, but not to baseline, and then subsequently manifested progressive behavioral and cognitive decline. He ceased to socialize and developed profound apathy, abulia, and amotivation; his mother reported \"when he is awake, he just stares straight ahead.\" His memory declined. He crashed his car and lost his driving privileges. He developed intermittent bladder and bowel incontinence.\nPast medical history included insulin-dependent diabetes since the first half of his third decade and hypertension. Medications included insulin, blood pressure medications, atorvastatin, daily aspirin, thiamine, and escitalopram. He was born at 29 weeks; a twin sibling died several months after birth. Mother and sister were in good health, and his father died from esophageal cancer at age 62. There was no family history of neurodegenerative disease. He graduated high school, where he excelled in athletics. He worked in construction and operated construction equipment. Throughout adulthood, he consumed alcohol but was not diagnosed with alcoholism. He was not known to seek or consume recreational drugs.\nTwo brain MRIs showed stable signal abnormalities in the right putamen and thalamus, which were felt to represent remote infarcts or possibly sequelae of a Wernicke's encephalopathy event (Fig. 1). An EEG was unremarkable. Cerebrospinal fluid revealed a very minor protein elevation.\nAt his initial Memory Care Clinic evaluation (October 2021), the AD8 was pan-positive except for the repetitive questioning item, as the patient never initiated conversation. He no longer shopped, cooked, or managed his medications. General neurologic exam showed reduced hand intrinsic muscle bulk, hypoactive upper extremity reflexes, hyperactive lower extremity reflexes, and suspected extension plantar responses. There were occasional non-purposeful movements of the right upper extremity. He had a normal gait, walked tandem, and the Romberg sign was absent.\nHis Mini-Mental State Exam score was 18 of 30. He had difficulty encoding information, was rapidly amnestic on verbal and visual recall testing, and did not improve with cueing. He scored 6/7 on a seven-point clock drawing scale as digit placement was uneven. He named 3 animals over one minute. He calculated one dollar contained 25 nickels and showed persistent ideomotor apraxia. Anomia was not present. He spoke only in response to direct questions.\nHe was diagnosed with a frontal lobe syndrome of unclear etiology. Cervical MRI ruled out structural-induced myelopathy (Fig. 2) and revealed neither cervical cord nor nerve root compression. The axial images showed subtle bilateral corticospinal tract hyperintensities, greater on the right, which were not felt by the radiologist to represent pathologic signal changes.\nOver the next year his mother managed his diabetes. There was no alcohol or recreational drug use, and no focal or stepwise changes. Independent function continued to progressively decline. By October 2022 he rarely left his bed, wore a diaper due to continuous bowel and bladder incontinence, could no longer bathe himself, and occasionally gagged when eating. Cranial nerves were intact. There was again profound atrophy of the intrinsic hand muscles but no obvious fasciculations. Deep tendon reflexes were pervasively suppressed despite bilateral Babinskis. He walked with a slightly widened base and subtle athetoid hand movements. His Mini-Mental State Exam score declined to 14, but otherwise cognitive exam performance was comparable to the previous year. Comprehension was again intact, but he did not initiate conversation. When asked to describe the Western Aphasia Battery picnic picture, he stated \"a guy reading a book, a house, kids are playing, I don't know.\"\nNerve conduction study (NCS)-electromyography (EMG) testing revealed severe sensorimotor axonal neuropathy, felt to partially, at least, represent a consequence of longstanding diabetes. There were diffuse, multilevel active denervation changes with fasciculations in lumbar and cervical myotomes and chronic reinnervation changes in lumbar myotomes (Table 1) that suggested motor neuron disease. C9orf72 genotyping by Invitae did not reveal repeat expansion. The Invitae FTD/ALS/Alzheimer's disease panel noted a heterozygous FUS G559A transition that causes a glycine to serine substitution at amino acid 187 and is reported as a VUS.\nThe gene panel report cited results from three algorithms developed to assess functional impact: PolyPhen-2, SIFT, and Align GVGD. PolyPhen-2 returned a result of \"not available\"; the SIFT prediction was \"tolerated\" (the probability value was 0.06, with probabilities of < 0.05 predicted to be deleterious); and the Align GVD prediction was \"Class C0,\" which presumes a functional consequence is unlikely. We performed an additional analysis using SNAP2, which predicted the variant as \"neutral\" (score =-24, predicted accuracy 61%).\nThe patient's adult relatives declined genetic testing. Following his final neurologic assessment, the patient developed progressive weakness and his ambulation declined, he fell and sustained a humeral fracture, and he exhibited slowly worsening uremia. He was transitioned to hospice care. He died at home 5.5 months after his genetic testing. The cause of death was attributed to his chronic conditions. An autopsy was not requested and, therefore, not performed.",
"gender": "Male"
}
] |
PMC10578331
|
[
{
"age": 54,
"case_id": "PMC10849867_01",
"case_text": "A 54-year-old obese patient (body mass index, 31.1 kg/m2) with a five-day history of fever and dyspnea was admitted to our hospital. He had a medical history of hypertension, hyperuricemia, and bronchial asthma. He reported no history of alcohol consumption or smoking. Upon admission, the physical examination results, including chest auscultation and epigastric pain, were unremarkable. His body temperature was 38.3C, blood pressure 127/100 mmHg, and oxygen saturation 77% on room air. The patient tested positive for SARS-CoV-2 RNA. Laboratory tests upon admission revealed elevated levels of aspartate aminotransferase (154 U/L), alanine aminotransferase (94 U/L), amylase (1,083 U/L), lipase (543 U/L), creatinine (1.27 mg/dL), and C-reactive protein (17.7 mg/dL). Plasma triglyceride and calcium levels were normal. Computed tomography (CT) revealed bilateral ground-glass opacities and consolidation in both lungs (Figure 1A) and a normal gall bladder and biliary tract, with an unremarkable pancreas (Figure 1B).\nThe patient was intubated and admitted to the intensive care unit for mechanical ventilation. He was administered high-dose corticosteroids, remdesivir, baricitinib, and unfractionated heparin. He also received aggressive fluid administration and empiric antibiotics for the possibility of AP and bacterial pneumonia. Nutritional support was initiated through a nasojejunal tube. On day 6, an abdominal ultrasound revealed fluid accumulation around the pancreas, supporting the diagnosis of AP. Gallstones were not observed. Additionally, the patient developed acute kidney failure and required hemodialysis (Figure 2). In contrast, circulatory dynamics were preserved without catecholamines.\nThereafter, the respiratory and renal impairments gradually improved. Amylase levels also decreased after admission. The patient was weaned from hemodialysis on day 32 and received ventilation on day 39 (Figure 2). However, the high-grade fever persisted, and abdominal CT demonstrated a heterogenous collection showing liquid and non-liquid components with a well-defined wall around the pancreas (Figure 3), leading to the diagnosis of WON. Although the radiological findings were unremarkable upon admission, he was assumed to have necrotizing pancreatitis. No other causes of AP, including alcohol consumption, gallstones, other viral infections, hypertriglyceridemia, or hypercalcemia, were identified. Antifungal therapy for candidemia due to catheter-related bloodstream infections did not improve the fever. Therefore, the patient was diagnosed with infected WON following COVID-19-associated AP. On day 60, the patient underwent endoscopic ultrasound-guided transgastric drainage using a lumen-apposing metal stent, which improved his fever. However, the encapsulated collection did not improve significantly (Figure 4A). Therefore, a direct endoscopic necrosectomy was also performed (12 sessions).\nAfter endoscopic necrosectomy, the encapsulated collection was markedly improved. Bilateral ground-glass opacities and consolidation in the lung field were also improved, and oxygen therapy was no longer necessary. On day 150, the patient was discharged to his home. A follow-up CT showed that the encapsulation collection remained improved (Figure 4B). The patient had no symptoms at six months of follow-up.",
"gender": "Male"
}
] |
PMC10849867
|
[
{
"age": 37,
"case_id": "PMC10562906_01",
"case_text": "A 37-year-old man had a history of arterial hypertension, a mild form of COVID-19, and recently treated testicular carcinoma (stage T2N0M0S1)-orchiectomy was performed followed by chemotherapy (bleomycin-cisplatin-etoposide). Prior to initiation of oncological treatment, chest computed tomography (CT) was performed and no pathomorphological changes were detected. Fifteen days after the third chemotherapy cycle, the patient was admitted to the hospital due to respiratory insufficiency and right-sided hydropneumothorax that required thoracic drainage. Chest CT revealed bilateral subpleural consolidates with ground glass opacities (shown in Fig. 1, Fig. 2A). Pleural effusion was eosinophilic (15%) exudate, and microbiological analyses were sterile. In laboratory tests, eosinophilia (0.5 x 109/L) and elevated angiotensin-converting enzyme (ACE 828 U/L) were detected; other markers were within normal limits. BILI was suspected and methylprednisolone (1 mg/kg) was initiated along with oxygen and supportive therapy, resulting in transient clinical improvement, and partial radiological regression. Glucocorticoid therapy was gradually tapering and the patient was released from the hospital. Due to severe and progressive dyspnea, the patient was admitted again and transferred to our hospital. Pulmonary embolism was excluded, radiologically there was partial regression of ground-glass infiltrates with the progression of consolidates and traction bronchiectasis. Due to severe respiratory insufficiency and poor general health condition, the patient could not perform lung function tests or bronchoscopy, and cytological sputum analysis was unremarkable. Pulse glucocorticoid therapy with antibiotics (levofloxacin), oxygen therapy, thromboprophylaxis, and pulmonary rehabilitation were induced, but with a poor clinical and radiological response. Due to the radiologic progression and clinical worsening of the patient we decided to induce nintedanib in the daily dose of 300 mg and to gradually discontinue glucocorticoid therapy. After six months of nintedanib monotherapy, there was a clinical improvement, and oxygen therapy was reduced (the patient is using it only during exercise with a significantly lower exercise desaturation-in a 6-min walk test prior to nintedanib desaturation of 31% compared with 18% with nintedanib), with good radiological regression of ground-glass opacities (shown in Fig. 1, Fig. 2B). Lung function tests revealed restrictive patterns (FVC 43%, 2.25 L, FEV1 43%, 1,83L, FEV1/FVC 0.81, TLC 43.5%, 3.07 L). Diffusion capacity for carbon monoxide (DLCO) is reduced (restrictive type), however, after additional two months of therapy, there was an improvement in the value of DLCO (from 37 to 49%). The patient is still on nintedanib therapy.",
"gender": "Male"
}
] |
PMC10562906
|
[
{
"age": null,
"case_id": "PMC10513053_01",
"case_text": "From 2020 to 2022, four children with pneumonia diagnosed as oral obligate anaerobic bacteria were admitted to the PICU of our hospital.\nThree of the four children were male and 1 female. Their mean age was 10.3 years (age range from 8 to 13 years). All patients had different underlying diseases (Down syndrome (n = 1), cerebral palsy (n = 2), hypophrenia (n = 1), severe malnutrition (n = 4), nasal tube feeding (n = 3)) (Table 1). All four children had poor oral hygiene, more tartar, and different degrees of dental caries.\nClinical symptoms included fever (n = 4), cough (n = 4), shortness of breath (n = 2), haemoptysis (n = 1), and respiratory failure (n = 1). Only one child required mechanical ventilation during hospitalization, and three others required only low-flow oxygen support. Finally, the four children were improved and discharged (Table 2). All patients had computed tomography scans showing pleural effusion (n = 4) and lung abscess (n = 4) (Figure 1). One of the children underwent lung necrosis tissue resection, and massive leukocyte infiltration was seen in the removed lung histopathological sections (Figure 2).\nIn terms of etiology detection, all the children with sputum bacterial culture and blood culture did not detect bacteria. Three children underwent thoracentesis during hospitalization and sent pleural effusion samples for NGS to identify the pathogen. Another child underwent fiberoptic bronchoscopic alveolar lavage and sent this child's alveolar lavage fluid for NGS. NGS tests in 4 children showed that Porphyromonas (n = 4), Parvimonas micra (n = 3), Fusobacterium (n = 2), Streptococcus (n = 2), Pyramidobacter piscolens (n = 1), Peptostreptococcus stomatis (n = 1), Filifactor alocis (n = 1), Prevotella oris (n = 1), Tannerella forsythia (n = 1), Bacteroides heparinolyticus (n = 1), Solobacterium moorei (n = 1), Dialister pneumosintes (n = 1), and Catonella morbi (n = 1) (Table 3).",
"gender": "Female"
}
] |
PMC10513053
|
[
{
"age": 19,
"case_id": "PMC10846346_01",
"case_text": "A 19-year-old male with a known history of cystic fibrosis presented to our emergency room (ER) in a post-ictal state. The patient had a week-long history of abdominal pain, distention, vomiting, and constipation. Despite seeking medical advice twice in another hospital's ER and receiving stool softeners and analgesics, his symptoms persisted. Upon presentation to our ER, the patient experienced a tonic-clonic convulsion, followed by confusion, tachycardia, hypotension, cachexia, and abdominal distension with an empty rectum per rectal examination. Arterial blood gases revealed respiratory acidosis and laboratory tests showed severe hyponatremia (sodium levels: 121 mmol/L; normal range: 136-145 mmol/L). Other parameters on presentation included a white blood cell count (WBC) of 7.2 K/u, a hemoglobin (HGB) level of 11.8 g/dL, and an albumin level of 33.2 g/L. \nThe patient was promptly resuscitated, intubated in the intensive care unit (ICU), and underwent hyponatremia management. At this stage, the surgical team was involved in the evaluation. After stabilization, computer tomography (CT) of the head and abdomen was done, which revealed a colo-colonic intussusception reaching the rectum with subsequent dilatation of small bowel and minimal pelvic abdominal free fluid (Figure 1)\nThe patient was admitted to the ICU and received resuscitation, monitoring, correction of acidosis, and decompression. Subsequently, the patient underwent exploratory surgery in the operative room (OR), revealing intestinal malrotation. The cecum was located in the left upper quadrant, accompanied by ilio-colic intussusception. The ileum extended to the mid-rectum, exhibiting diffuse small bowel dilation. Attempts were made to manually reduce the intussusception, resulting in partial success. Consequently, a decision was made to perform a resection of the distal ileum up to the upper rectum. Despite using a gastrointestinal anastomosis (GIA) stapler on the upper rectum, a portion of the ileum remained in the distal rectum, necessitating the creation of an ileostomy (Figure 2).\nPost-operatively, the histopathology report showed a prolapsing bowel inside of the large bowel along with feces, which exhibited semi-complete luminal obstruction. The bowel wall displayed edema, hemorrhage, and necrotic areas, with no discernible masses or solid regions. Following surgery, the patient remained intubated and sedated in the ICU to monitor pulmonary function due to his cystic fibrosis and to control hyponatremia and any newly developed convulsion. The patient's recovery in the hospital was uneventful, and he was discharged on day seven in good condition after successfully tolerating oral intake and a functional stoma. However, three days after discharge, the patient returned to the ER due to a high-output stoma, dehydration, and electrolyte imbalances leading to hyponatremia. Consequently, the patient was readmitted for rehydration, electrolyte correction, close monitoring of fluid intake and output, and management of stoma output using loperamide. The dose of pancreatic enzymes was increased, and a dietitian was consulted to address chronic constipation, underweight concerns, and nutritional needs specific to cystic fibrosis, including sodium replacement. After a few days, the stoma output was successfully controlled, and the patient was discharged with plans for close follow-up. Subsequent follow-up appointments indicated the patient's positive progress, including increased oral intake, weight gain, and adherence to medications and instructions. The patient expressed a desire to undergo stoma reversal after completing three months post-operation.",
"gender": "Male"
}
] |
PMC10846346
|
[
{
"age": 53,
"case_id": "PMC11246149_01",
"case_text": "Several single cases or case series have reported urinary involvement in SOD1-ALS patients, most commonly associated with detrusor hyperactivity, urgency, or urinary incontinence. To the best of our knowledge, urodynamic studies have been rarely reported, pointing out a neurogenic bladder with an overactive detrusor type or uninhibited bladder, along with atonic bladder (Kawata et al., 1997; Shimizu et al., 2000; Hayashi et al., 2016). The first report came from Kawata et al. (1997) describing a Japanese familial case of juvenile-onset SOD1-ALS with the G94S mutation, which showed a long disease duration and the development of various extra-motor symptoms, including urinary urgency. Hineno et al. (2012) described a large family with 10 SOD1-ALS patients carrying the L107V mutation, many of whom developed urinary symptoms described as an overactive bladder as well as urinary retention, with high variability in age at onset and survival. Other cases and case series of SOD1-ALS patients, both familial and sporadic, have been reported in Japan, Spain, and France (Shimizu et al., 2000; Gamez et al., 2006; Nakamura et al., 2014; Sakamoto et al., 2014; Hayashi et al., 2016; Taieb et al., 2017), with further details available in Additional Table 3. Battistini et al. (2005) described the case of a 53-years-old Tuscan patient with familial SOD1-ALS due to the G42S mutation, characterized by an aggressive phenotype and a short disease course, during which he developed urinary disturbances along with sexual dysfunction and cognitive and behavioral symptoms such as disinhibition, visual hallucination, and confusion. However, with the exception of rare cases, the vast majority of the cases described had a disease duration above average, and none of them presented a SOD1 mutation known to be associated with a rapid progression, suggesting that urinary involvement might occur mainly later in the disease course.\nCommonly, incontinence and urinary retention are not considered a classic manifestation in patients with ALS, being often attributed to the use of muscle relaxants and anticholinergic medications or the patient's motor impairments (Swinnen and Robberecht, 2014). However, bladder symptoms are present in the ALS population, reaching up to 25% after diagnosis (Samara et al., 2021). Then, urodynamic studies have shown that these symptoms are caused by a combination of an overactive detrusor muscle and a non-relaxing sphincter (Arlandis et al., 2017), as described in SOD1-ALS patients. Interestingly, the histopathological findings confirm the involvement of Onuf's nucleus in patients with ALS with different clinical syndromes, more frequently in cases with pyramidal tract involvement (Bergmann et al., 1995), while in SOD1-ALS cases the classic phenotype was more represented.\nSo far, few cases of movement disorders in SOD1-ALS patients have been reported in the literature (Andersen et al., 1996; Lopate et al., 2010; Yasser et al., 2010; Kacem et al., 2012; Ioannides et al., 2016). In an extensive cohort study by Andersen et al. (1996), which included 36 SOD1-ALS patients with a biallelic D91A variant, two subjects showed mild dysmetria in the arms along with UMN and LMN signs. However, no further clinical information was provided (Andersen et al., 1996). Subsequently, rare cases of cerebellar ataxia associated with SOD1 mutations have been reported in the literature (Lopate et al., 2010; Yasser et al., 2010), indicating that FALS associated with SOD1 mutations may have cerebellar features. It is also interesting to note that in the same study, six relatives of the D91A families were affected by Parkinson's disease (PD) but only four PD relatives underwent genetic screening, showing a heterozygous (n = 2) or homozygous wild-type allele (n = 2) (Andersen et al., 1996). Kacem et al. (2012) also reported a patient with a family history of autosomal dominant ALS, who developed early onset levodopa-responsive parkinsonism associated with an intronic mutation (Intron IV, c.358 - 304C > G*) in the SOD1 gene without involvement of motor neurons.\nThese findings could be even more impactful considering that oxidative stress reactions contribute to PD pathogenesis, and superoxide dismutases like SOD1 can potentially play a role in PD pathogenesis by detoxifying superoxide radicals (Farin et al., 2001). This had been confirmed by a subsequent case-control study that assessed potential associations of gene polymorphisms in SOD1, SOD2 (encoding Manganese-SOD), and SOD3 (encoding extracellular-SOD) with PD susceptibility (Liu et al., 2019). The results of this study indicated that individuals carrying the AG or GG genotype had a much higher risk of PD compared to those with the corresponding AA genotypes, and carriers of the G allele had a higher risk than carriers of the A allele at the single nucleotide polymorphism (rs2070424 A/G) in SOD1, which enhances genetic susceptibility to PD (Liu et al., 2019). Looking at the general ALS population, extrapyramidal features have been also reported (Gilbert et al., 2010), although they are not frequent and can be overshadowed by muscle impairment. ALS associated with PD, also known as ALS-PD complex, is very rare and is characterized by simultaneous or subsequent motor and extramotor involvement (Gilbert et al., 2010). Mild extrapyramidal features have been reported more frequently in ALS patients (5%-15%) (Manno et al., 2013) with some studies also highlighting substantia nigra and striatum degeneration at autopsy (Urso et al., 2022). For what concerns the genetic forms of ALS, an overlap between Parkinsonian features and ALS has been observed more frequently within the spectrum of ALS due to C9ORF72 expansion, combined with dementia (Origone et al., 2013), cerebellar abnormalities, autonomic dysfunction, and Huntington's disease (Hensman Moss et al., 2014) or TARDBP mutation (Chio et al., 2011). Of course, the incidence of parkinsonism in SOD1-ALS patients is lower compared to patients with TARDBP mutations. The clinical manifestations of TARDBP mutations range from complex ALS phenotypes to ALS-FTD (Arai et al., 2006), both of which can be associated with Parkinsonian features (Tiloca et al., 2022). This may be related to the recent observation of decreased parkin protein in TDP-43 proteinopathies (Polymenidou et al., 2011; Lagier-Tourenne et al., 2012). Furthermore, the possible molecular interaction between alpha-synuclein, a key protein involved in PD pathology, and SOD1 have been evaluated through multiple studies, in both hSOD1G93A transgenic mice and patient brain tissue, finding their mutual aggregational properties, supporting the hypothesis that alpha-synuclein in ALS may play a significant role in the pathogenesis of ALS (Takei et al., 2013; Helferich et al., 2015). In particular, a protein-fragment complementation approach has revealed that alpha-synuclein and SOD1 physically interact in living cells, human erythrocytes, and mouse brain tissue (Helferich et al., 2015). Additionally, disease-related mutations in alpha-synuclein (A30P, A53T) and SOD1 (G86R, G94A) have altered the binding of alpha-synuclein to SOD1, leading to alpha-synuclein-induced acceleration of SOD1 oligomerization independent of SOD1 activity (Helferich et al., 2015).\nInterestingly, Lopate et al. (2010) described a case of choreodystonia associated with an I114T mutation in the SOD1 gene. The choreic and dystonic movements were widespread, persistent, and appeared at the age of 69 years, and were not associated with a sensory trick. Specifically, chorea initially appeared in the upper limbs and then spread extensively. No information regarding pharmacological treatment for involuntary movements was reported by the authors (Lopate et al., 2010). Ioannides et al. (2016) further described a novel SOD1 mutation, G142R, causing motor neuron disease with prominent premorbid cramps and spasms. Interestingly, one of the patients had a long history of dystonic spasms in the lower limbs worsened by exercise, without any sensory tricks, leading to the onset of ALS (Ioannides et al., 2016).\nIn SOD1-ALS patients, ten cases of vocal cord palsy have been described, with various SOD1 mutations associated and high variability in age at onset (Tan et al., 2004; Fukae et al., 2005; Salameh et al., 2009; Hermann et al., 2011; Origone et al., 2012; Capece et al., 2021; Yogakanthi et al., 2021; Additional Table 4). Six of these patients presented with a bulbar phenotype at the onset of the disease. When specified, in four patients bilateral vocal cord palsy was present, while in three cases the paralysis was unilateral. In all reported cases, with the exception of the patient with the homozygotic D91A mutation, the time from onset to death or tracheostomy was very short (range 11-20 months), which aligns with the worse prognosis observed in bulbar onset cases and may suggest the role of vocal cord involvement as a prognostic factor. Facial-onset sensory and motor neuropathy (FOSMN) is a syndrome commonly characterized by paraesthesia and numbness in the region of trigeminal innervation followed by bulbar symptoms, muscle weakness, atrophy, fasciculations and sensory involvement in other limbs, with a long continuously progressive disease course. Dalla Bella et al. (2014) described an Italian sporadic patient with bulbar impairment, sensitive onset, and subsequent bulbar involvement (compatible with the diagnosis of FOSMN), whose genetic testing revealed a D91A substitution in the SOD1 gene.\nConcerning the SOD1-ALS population, literature reports indicate three patients with prominent blood pressure regulation disorders, as reported in Additional Table 5. The Japanese patient described by Kawata et al. (1997) experienced blood pressure fluctuations with hypertensive spikes and nocturnal drops, along with sensory and urinary dysfunctions. Shimizu et al. (2000) described another young sporadic SOD1-ALS patient carrying the V119L mutation who suffered from orthostatic hypotension, nocturnal hypotension, and atonic bladder. Hayashi et al. (2016) reported another familial SOD1-ALS patient with orthostatic hypotension. Interestingly, the latter two patients also reported having ophthalmoplegia (Shimizu et al., 2000; Hayashi et al., 2016). All the described patients also exhibited urinary symptoms, suggesting that the poor blood pressure control observed in these SOD1-ALS patients may be indicative of a broader dysautonomic impairment, as recognized in transgenic mice carrying an SOD1 (G93A) mutation (Kandinov et al., 2011).\nAutonomic abnormalities are not rare in the general ALS population, with mainly urinary and intestinal problems (McCombe et al., 2017). Other autonomic alterations have been reported, such as abnormal heart rate variability (Merico and Cavinato, 2011), and sudomotor dysfunction (Beck et al., 2002; Piccione et al., 2015). Autonomic dysfunctions are weighted differently by the determination method, being more detectable with the application of fine quantitative measures (Weise et al., 2022), limiting the comparison between different studies and cohorts.",
"gender": "Male"
}
] |
PMC11246149
|
[
{
"age": 45,
"case_id": "PMC11346690_01",
"case_text": "Informed consent was obtained for the publishing of the image/case described in this report. We used this concept clinically, in a 45-year-old male patient who had a coronary bypass artery graft via a median sternotomy wound with harvesting of bilateral internal mammary arteries but unfortunately, the wound dehisced leaving a 20 cm x 6 cm defect down to the ribs. This was briefly described in the senior author's article in 2016, but in this article, this perspective is expanded upon, emphasizing the 'vascular aquifer'. Doppler examination assessment revealed optimal signals of the Internal Mammary Artery Perforators (IMAPs) bilaterally despite the absence of the bilateral internal mammary arteries. \nPeri-operatively, only the left 1mm 2nd IMA perforator was identified in the supra-muscular plane. The Lateral Thoracic Artery Perforator (LTAP) signal was located on doppler studies and then identified intra-operatively. When a microvascular clamp was used to occlude the LTA perforator in its supra-fascial plane, doppler studies still detected a strong signal in the 2nd IMA perforator. An Acland's test on the 2nd IMA perforator as it entered the subcutaneous fat showed a flow pattern from deep to superficial from the stem of the 2nd IMAP itself. \nBased on this, a left-sided 2nd IMAP flap was raised, in the supra-fascial plane along the axis of the 2nd IMAP and the LTAP, as a propeller flap and pivoted through 80 degrees before insetting into the pre-sternal defect. The post-operative period was uneventful, and the flap survived completely with no evidence of venous congestion. Follow-up at six months showed a completely healed wound with good color and contour match (Figure 1).",
"gender": "Male"
}
] |
PMC11346690
|
[
{
"age": 28,
"case_id": "PMC10734303_01",
"case_text": "A 28-year-old female patient experienced intermittent dizziness at 18 weeks of gestation, and an electrocardiogram revealed atrial standstill and junctional escape rhythm (Figure 1A). Cardiac magnetic resonance imaging (CMRI) could not be performed owing to the patient's claustrophobia. The patient showed an indication for pacemaker implantation, with an expected high ventricular pacing ratio.\nThe final decision was to perform zLBBP. An ex vivo 3D cardiac model was used preoperatively to simulate the procedure. First, we introduced a navigation catheter (Biosense-Webster) in the model to create a 3D electroanatomical map of the superior vena cava (SVC), right atrium (RA), and right ventricle (RV). Then, we simulated the process of zLBBP implantation and sheath removal in the model. The intraoperative procedure, combined with the simulation, is described in the following. The SVC, RA, and RV maps were created in the CARTO3 system using a PentaRay catheter (Biosense-Webster, USA), and His potential was labeled (Figure 1B). Voltage mapping revealed the RA and coronary sinus orifice to be low-voltage zones; furthermore, all RA regions could not be recaptured at 5.0 V/0.5 ms output, which confirmed atrial standstill.\nWe punctured the subclavian vein and inserted a guidewire into the vein, then connected alligator clips to the CARTO3 system to verify that the guidewire was inserted into the vein. Then, a C315HIS sheath (Medtronic, USA), the most commonly used sheath for left bundle branch pacing (LBBP) implantation, was chosen as the supporting sheath, as the three-dimensional configuration of its tip was very favorable for vertical affixation to the ventricular septum, thus facilitating the screwing of the leads into the myocardium. With the support of the sheath, a 3,830 lead (Medtronic, USA) was delivered into the RV and the lead trajectory was continuously tracked in the CARTO3 system. The lead helix was advanced just outside the sheath and highlighted by connecting alligator clips for visualization in the system by configuring a biopolar catheter in the \"catheter setup\" menu and placing the pinned ends of two alligator-clip cables connected to the lead in the corresponding pin box locations. Then, the lead tip was positioned 1.5 cm anterior to the labeled His at the line between the HIS and the RV apex in the system (Figure 1C). On ICE visualization, the C315HIS sheath was oriented so that its tip was perpendicular to the septum (Figure 1D), and the lead tip was gradually screwed into the septum. During gradual screwing, the QRS waveform of the lead tip pacing changed gradually from a \"W-shape\" to an \"M-shape\" in V1 leads, and the QRS duration changed from 145 ms in RV septal pacing to 110 ms in LBBP (Figure 1E-G). The left bundle branch (LBB) potential was also recorded (Figure 1C), and the pacing stimulus to LV activation time was 75 ms (Figure 1G). The depth of insertion of the lead tip in the septum was 9 mm, as measured by ICE (Figure 1H). The lead pacing thresholds, sensing, and impedance were all normal.\nThe length from the puncture point to the beginning of the 3,830 lead connector was assessed and marked (Figure 2A). Then, the C315 sheath was removed and the length from the puncture point to the lead marked point was measured again; it remained unchanged at 30 cm (Figure 2B), ensuring no withdrawal of the deployed lead tip at the LBB. The 3,830 lead was advanced an additional 2.5 cm (27.5 cm from the puncture point to the marked point), with the lead slacked to prevent dislocation (Figure 2C). On ICE visualization, it was further confirmed that the lead position was acceptable, with an appropriate length in the RA without falling into the inferior vena cava. The lead was connected to the IS-1 port of a generator (X3SR01; Medtronic, USA). The procedure took 1 h and 50 min.",
"gender": "Female"
}
] |
PMC10734303
|
[
{
"age": 35,
"case_id": "PMC11200113_01",
"case_text": "The patient was a 35-year-old woman suffering from limb weakness for 2 months. A physical exam revealed that both upper and lower limbs had grade III muscle strength. An MR scan showed an occupation in the right foramen magnum area, with the medulla compressed by the tumor mass (Figure 2).",
"gender": "Female"
},
{
"age": 55,
"case_id": "PMC11200113_02",
"case_text": "The patient was a 55-year-old man suffering from intermittent headaches for more than 6 months. There was no neurological deficit found during physical examination. An MR scan showed a tumor was on the right side of the foramen magnum with homogeneous enhancement (Figure 3).",
"gender": "Male"
},
{
"age": 69,
"case_id": "PMC11200113_03",
"case_text": "The patient was a 69-year-old woman suffering from dizziness accompanied by intermittent headaches for over 5 months. A physical exam revealed limitations in the fine motor skills of both upper limbs. An MR scan showed homogeneous enhancement of a tumor mass located on the ventral side of the medulla (Figure 4).",
"gender": "Female"
},
{
"age": 34,
"case_id": "PMC11200113_04",
"case_text": "The patient was a 34-year-old man. A routine examination found a mass in the left brainstem for 2 weeks. A physical exam revealed that both the left upper and lower limbs had grade III muscle strength. An MR scan showed no obvious enhancement, and the T2 sequence presented a relative high density (Figure 5).",
"gender": "Male"
}
] |
PMC11200113
|
[
{
"age": 70,
"case_id": "PMC10800167_01",
"case_text": "A 70-year-old patient with a medical history of diabetes mellitus received the Pfizer/BioNTech COVID-19 vaccine (BNT162b2) twice. Five days after the second vaccination, the patient presented with headache, and MRI T1- and T2-weighted imaging demonstrated abnormal signal intensity in the superior sagittal sinus (SSS), left transverse sinus, and left sigmoid sinus (Fig. 1A-1F). MRA revealed no abnormal vascular shunts (Fig. 1G-1I). The initial laboratory investigations, including the levels of platelets (25.9 x 104/muL), protein C activity, protein S activity, antiplatelet factor IV antibody, serum anti-proteinase 3 antineutrophil cytoplasmic antibody, myeloperoxidase-antineutrophil cytoplasmic antibodies, and cardiolipin Immunoglobulin G (IgG) were within normal limits, except for D-dimer (7.7 mug/mL). The patient was diagnosed with CVST in the SSS, left transverse sinus, and left sigmoid sinus and was hospitalized. The patient's symptoms improved with anticoagulant therapy. Thus, the patient was discharged after 3 weeks of hospitalization. MRI was performed six months after the onset of CVST, suggesting residual thrombi in the SSS and transverse-sigmoid sinus. Subsequently, the patient became asymptomatic.\nEight months after the patient's second COVID-19 vaccination, the patient visited the previous physician again because of recurrent headache. MRI revealed a residual thrombus in the left transverse sigmoid sinus (Fig. 2A-2D) and DAVF in the left transverse sigmoid sinus, which had not been observed at the time of CVST onset (Fig. 2E and 2F). DSA revealed a DAVF in the left transverse sigmoid sinus, which was fed by the right and left occipital arteries (OAs) (Fig. 3A and 3B, black arrowhead; Fig. 3C and 3D, black arrow), left middle meningeal artery (MMA) (Fig. 3B, white arrowhead), and left ascending pharyngeal artery (Fig. 3B, large black arrow). The left sigmoid sinus was occluded (Fig. 3E, large white arrow), and blood flow drained into the cortical vein (Fig. 3F, large black arrowhead). The DAVF was diagnosed as Borden type II and Cognard type 2a + b. DSA revealed that the left MMA was partially shunted into the cortical vein, forming a convexity DAVF (Fig. 3B, white arrow). However, we decided to follow this convexity DAVF and consider whether to treat this convexity DAVF after a follow-up angiography, since there was a possibility that some of these arteries were not feeders but just arteries on the surface of the brain.\nFirst, transarterial embolization (TAE) was performed for DAVF. The DAVF in the left transverse-sigmoid sinus was treated. Endovascular occlusion of the right OA was performed with N-butyl cyanoacrylate (NBCA), left OA, and left MMA using Onyx18. Two months later, follow-up angiography showed two convexity DAVFs whose feeders were posterior convexity branches of the left MMA and whose drainers were cortical veins of parietal lobe. So, we decided to perform a second endovascular occlusion of the convexity DAVF. Two posterior convexity branches of the left MMA were embolized using several coils and NBCA. Complete occlusion was achieved (Fig. 3G and 3H), and TAE-related complications did not occur. His symptoms improved, and he was discharged with a modified Rankin Scale score of 0.",
"gender": "Male"
}
] |
PMC10800167
|
[
{
"age": 44,
"case_id": "PMC11259471_01",
"case_text": "This is a 44-year-old female with a past medical history of epilepsy and asthma who presented for evaluation of breakthrough seizures. Prior to admission, the patient's anti-epileptic regimen consisted of topiramate and valproic acid. She has been diagnosed with epilepsy since childhood and has been on valproic acid for approximately 30 years and topiramate for 27 years. Her last seizure activity was several years prior to our encounter. Other medications include duloxetine 30 mg BID, which the patient takes for anxiety and ibuprofen as needed for back pain.\nDespite long-term stability, she experienced a 5-10-min episode of convulsions, hand twisting, and frothing at the mouth, followed by 15 min of unresponsiveness witnessed by her daughter. Emergency Medical Services (EMS) administered 10 mg of versed and transported her to the Emergency Room (ER).\nUpon arrival in the ER, she was found to be in a post-ictal state. Her blood glucose (BG) was found to be 61 mg/dL (70-122), dextrose 50% (D50) was administered and Levetiracetam was added to the antiepileptic regimen. One hour after administration of D50, the patient was witnessed to have an additional tonic clonic seizure activity and her BG was found to be 51, she received an additional dose of D50 and was started on dextrose 5% (D5) continuous infusion; endocrinology and neurology were consulted. The hypoglycemic panel was ordered, results of which were unremarkable as reported in Table 1. While on D5, the patient had multiple hypoglycemic seizures requiring D50, Lacosamide was also added to the regimen. The patient underwent further testing including an adrenal challenge test, growth hormone deficiency work-up and a video continuous electroencephalogram which were all unremarkable. The antiepileptics levels were also within normal limits.\nThe patient's episode was further complicated by the fact that initial non-contrast Computed tomography (CT) imaging did not reveal any acute conditions. This makes the case particularly challenging, as both seizures and hypoglycemia persisted despite multiple treatments, and no clear underlying cause could be established even after extensive testing.\nA carnitine level was then ordered and revealed a deficiency of free and total carnitine.\nThe patient's valproic acid was discontinued and she was started on l-carnitine supplementation. The patient's glucose gradually normalized and the D5 infusion was eventually discontinued. The patient remained seizure free and was discharged from the hospital.",
"gender": "Female"
}
] |
PMC11259471
|
[
{
"age": 71,
"case_id": "PMC10775704_01",
"case_text": "This patient was female, 71 years old, diagnosed with chronic myeloid leukemia for over 20 years, receiving long-term treatment of dasatinib. On December 20, 2022, she was diagnosed with diffuse large B-cell lymphoma. On December 30, she received a ZR2 (Ibrutinib+Lenalidomide+Rituximab) regimen for treatment. On December 31, the patient developed a fever with a maximum temperature of 39.7 C. On January 2, 2023, she tested nucleic acid positive for SARS-CoV-2 on a nasopharyngeal swab, and a chest CT showed pneumonia. Her blood routine showed white blood cells were 1.15x10^9/L, neutrophils 0.74x10^9/L, hemoglobin 84g/L, and platelets 61x10^9/L. The patient experienced dyspnea, with the lowest arterial oxygen pressure (PaO2) at 65.1mmHg. Oxygen was administered at 10L/min, and methylprednisolone 40mg qd was added. On January 7, chest CT showed progression of bilateral lung inflammation. IL-6 was 193.69pg/mL, and CRP was 20.4mg/L. The patient was diagnosed with severe COVID-19 infection, and 320mg of tocilizumab was given immediately on January 7. On January 8, the patient's body temperature decreased to normal, and the chest tightness and dyspnea improved. CRP also decreased. The serum IL-6 initially increased, peaking at 688.27pg/mL, then gradually decreasing. On January 13, her chest CT showed absorption of inflammation. On January 19, the patient met the discharge criteria and was discharged.",
"gender": "Female"
},
{
"age": 67,
"case_id": "PMC10775704_02",
"case_text": "This patient was female and 67 years old. She was diagnosed with multiple myeloma. On November 25, 2022, she received BCMA-CAR-T therapy. On December 30, the patient developed a fever with a maximum temperature of 39.5 C. On January 6, 2023, she tested nucleic acid positive for SARS-CoV-2 on a nasopharyngeal swab, and her chest CT showed bilateral lung inflammation. Blood routine showed the white blood cells were 5.2x10^9/L, neutrophils 4.28x10^9/L, hemoglobin 105g/L, and platelets 176x10^9/L. The patient experienced significant chest tightness, with the lowest oxygen saturation at 86%. Oxygen was administered at 15L/min, and dexamethasone 10mg qd was added. On January 10, a chest CT showed that lung inflammation had progressed. The serum IL-6 level was 287.74pg/mL, and CRP was 34.71mg/L then. The patient was diagnosed with severe COVID-19 infection. The patient received dexamethasone at 10mg Q12h and nirmatrelvir/ritonavir 3# Q12h on January 10, 400mg tocilizumab was administrated on the same day. On January 11, the patient's body temperature rapidly decreased, and chest tightness and dyspnea improved. On January 12, the auscultation of her lungs revealed coarse and moist rales, and the patient was considered to have a progression of infection. Then, tocilizumab was administered again with one dose of 400mg. Subsequently, CRP and IL-6 decreased progressively. On January 17, the chest CT showed absorption of lung infections compared to previous scans. On January 24, the patient had chest tightness and dyspnea again, with oxygen saturation dropping to 70-80%. The SARS-CoV-2 nucleic acid was tested again and was still positive. The chest CT showed progression of bilateral lung inflammation. Sputum culture revealed the presence of moderate amounts of white candida, suggesting secondary pulmonary fungal infection. On January 30, the patient developed significant chest tightness and dyspnea. Her family refused further treatments and left the hospital on January 31.",
"gender": "Female"
},
{
"age": 53,
"case_id": "PMC10775704_03",
"case_text": "This patient was female, 53 years old. She was diagnosed with acute myeloid leukemia. The most recent chemotherapy was administered on November 9, 2022, with FLAG regimen (Fludarabine 50mg/m2 on days 1-5, Cytarabine 2.0/m2 on days 1-5, G-CSF 150ug q12h on days 0-5). On January 13, 2023, the patient developed a fever with a maximum temperature of 40 C, and SARS-CoV-2 on nasopharyngeal swab nucleic acid tested positive. Chest CT showed bilateral lung inflammation. Blood routine revealed the white blood cells were 1.22x10^9/L, neutrophils 0.69x10^9/L, hemoglobin 43g/L, and platelets 82x10^9/L. Dexamethasone 10mg Q12h and nirmatrelvir/ritonavir 3# Q12h were added on January 13. On January 17, the patient's oxygen saturation dropped to 88%, and oxygen was administered at 9L/min. By that time, she was diagnosed with severe COVID-19 infection. Tocilizumab treatment was initiated on the same day with a dose of 480mg. Within 24 hours, the patient's body temperature decreased, and respiratory distress and hypoxemia improved significantly. C-reactive protein decreased progressively. The chest CT on January 20 and January 26 showed absorption of inflammatory lesions in both lungs. On January 20, the SARS-CoV-2 nucleic acid test was negative. On February 6, the patient met the discharge criteria and was discharged.",
"gender": "Female"
},
{
"age": 68,
"case_id": "PMC10775704_04",
"case_text": "This patient was female and 68 years old. She was diagnosed with acute myeloid leukemia. On December 9, 2022, the patient received chemotherapy with decitabine 20mg/m2 d1-5 plus IA 3+7 regimen, followed by HLA mismatched donor stem cell transplantation (micro-transplant). On December 30, the patient developed a fever with a maximum temperature of 39.4 C. On January 4, 2023, the patient tested positive for SARS-CoV-2 on a nasopharyngeal swab, and nirmatrelvir/ritonavir 3# Q12h was administered. On January 12, Her chest CT showed bilateral lung inflammation. On January 17, the serum IL-6 level was 133.48pg/mL, CRP was 143.72mg/L, and the blood routing showed the white blood cells were 0.3x10^9/L, neutrophils 0.03x10^9/L, hemoglobin 46g/L, and platelets 41x10^9/L. She was diagnosed with severe COVID-19 pneumonia. 400mg of tocilizumab was administrated to her immediately. On January 18, the patient's body temperature quickly returned to normal, and CRP decreased. The serum IL-6 levels gradually increased to 362.85pg/mL and then decreased. The chest CT on January 18 showed reduced bilateral lung inflammation. On January 30, the patient met the discharge criteria and was discharged.",
"gender": "Female"
},
{
"age": 32,
"case_id": "PMC10775704_05",
"case_text": "This patient is male, 32 years old. He was diagnosed with myelodysplastic syndrome (IPSS-R: high-risk). The patient's last chemotherapy was administered on November 6, 2022, with azacitidine 75mg/m2 d1-7 plus IA 3+7 regimen. On February 2, 2023, the patient developed a fever with a maximum temperature of 40 C and tested positive for SARS-CoV-2 on a nasopharyngeal swab, and nirmatrelvir/ritonavir 3# Q12h was given. After that, the patient experienced shortness of breath. Blood gas analysis showed a partial pressure of oxygen (PaO2) of 57.3mmHg. Oxygen was administered at 15L/min, and methylprednisolone was added at 40mg every 8 hours. On February 13, the blood routine showed white blood cells were 17.82x10^9/L, neutrophils 4.28x10^9/L, hemoglobin 48g/L, and platelets 15x10^9/L, the serum IL-6 level was 56.38pg/mL, CRP was 172.78mg/L. His chest CT revealed bilateral multiple infiltrates. He was then diagnosed with severe COVID-19 infection. Tocilizumab was treated at 480mg at once. On February 14, the patient's body temperature decreased to 38 C, and CRP decreased. The serum IL-6 levels sharply increased to 2778.07pg/mL and then decreased. The chest CT on February 17 showed a lung reduction. However, due to disease progression to acute leukemia, upon the request of the patient's family, the patient was transferred to a local hospital for further treatment on March 14, 2023.",
"gender": "Male"
}
] |
PMC10775704
|
[
{
"age": 54,
"case_id": "PMC10556649_01",
"case_text": "A 54 years-old right-handed man was admitted to the Department of Neurology of The Second Hospital of Lanzhou University in September 2021 with a sudden onset of lower limb weakness. Four days before admission, the patient felt weakness in both lower limbs, more severe in the left leg, and was unable to walk. Two days later, the weakness in the right lower limb worsened, and he was unable to stand. He also presented with back pain, urinary retention, and constipation. The patient was a non-smoker with a medical history of scoliosis, hypotension, and AS, all of which were untreated. On examination, the subject's blood pressure was 75/50 mmHg. At that time, his weight was 40 kg, and his spine was deformed and curved. The neurological examination revealed that his speech, cognition, and cranial nerve function were normal. He had full strength bilaterally in all muscle groups in his upper limbs, with bilaterally brisk reflexes and normal muscle tone. Conversely, in his lower limbs, his muscle tone was significantly decreased, with tendon hyporeflexia. In both lower limbs, he had a flaccid tone with a Medical Research Council (MRC) grade 1/5 strength in the left leg and an MRC grade 2/5 strength in the right leg. He had dissociated sensory loss, and his superficial sensation was lost, with relative sparing of deep sensation below the level of the Th6 dermatome. Bilateral Babinski signs were present. The modified Rankin scale (MRS) score was 4/5.\nLaboratory tests showed: C-reactive protein (CRP) 55.54 mg/L (normal range <6 mg/L), erythrocyte sedimentation rate (ESR) 23 mm/h (normal range <20 mm/h), immunoglobulin A (IgA) 4.5 g/L (normal range <4 g/L), D-dimer 1.13 mg/mL (normal range <0.5 mg/mL), gamma-glutamyl transpeptidase (gamma-GT) 268 u/L (normal range 10-60 u/L), alkaline phosphatase (ALP) 205 u/L (normal range 45-125 u/L), triglycerides (TG) 4.44 mmol/L, lipoprotein (a) [Lp(a)] 482 mg/L (normal range <400 mg/L), creatine kinase (CK) 365 u/L (normal range 50-310 u/L); HLA-B27 was positive. Homocysteine (HCY), hemoglobin A1c (HbA1c), antiphospholipid antibodies, thyroid function, and routine anticoagulant blood tests were normal. Electromyography (EMG) showed multiple sensory and motor nerve damages. A color Doppler ultrasound showed a thrombus in the intermuscular vein of the left lower limb.\nAn MRI of the whole spine was undertaken. On the sagittal T2, there was an abnormal intramedullary signal intensity from T2 to T5, with central cord swelling. Diffusion-weighted imaging (DWI) with an apparent diffusion coefficient showed restricted diffusion, which can be seen in patients with acute ischemia (Figures 1A-C). A spinal angiogram was recommended but declined by the patient.\nDue to his AS, the patient had spinal deformities, ligament ossification, and spinal space occlusion (Figure 2A), which made lumbar puncture technically challenging. CT of the sacroiliac joint showed that he had bilateral sacroiliitis and calcification of the anterior and posterior longitudinal ligaments (Figure 1D). A chest CT showed abnormalities of the thoracic vertebrae and an old fracture of the ribs. Experienced anesthesiologists performed multiple lumbar puncture attempts in the left lateral position at different levels (L2_3 and L3_4), with both midline and paramedian approaches, but these failed. After five failed attempts, the Taylor approach was successfully used for lumbar punctures. After local anesthetic infiltration, a spinal needle was inserted 1 cm medial and 1 cm caudal to the posterior superior iliac spine, which was located immediately in front of the skin depression. On the first attempt, a needle was inserted toward the medial side of the head toward the L5_S1 space to obtain clear cerebrospinal fluid. Cerebrospinal fluid analysis showed a normal cell count (3 m/L) and an elevated protein level (0.72 g/L). The patient was negative for serum anti-aquaporin4 antibody (AQP4), oligoclonal band (OB), and glial fibrillary acidic protein (GFAP).\nAn MRI was performed to differentiate between possible inflammation and infarction. The MRI demonstrated restricted diffusion from T2 to T5. Combined with a severe acute deficit within hours, the subject was diagnosed with SCI.\nWe treated the patient with low molecular weight heparin (LMWH) for 1 month at the therapeutic dose, atorvastatin calcium (20 mg daily), and 160 mg intravenous methylprednisolone for 5 days, to reduce spinal cord edema. Non-steroidal anti-inflammatory drugs (NSAIDs) were prescribed for the symptomatic treatment of AS. After 2 weeks, a thoracic spine MRI showed a slightly decreased signal (Figures 2B-D). One month later, a reexamination of the lower vascular ultrasound showed unobstructed blood flow and resolution of venous thrombosis. After 8 weeks, the patient could walk with a medical walker. His MRS score was 3/5. A total of 6 months after the onset of his symptoms, he was able to walk independently and live without assistance. The treatment timeline is shown in Figure 3.",
"gender": "Male"
}
] |
PMC10556649
|
[
{
"age": 73,
"case_id": "PMC10730457_01",
"case_text": "A 73-year-old Japanese woman visited a local clinic in 2015 with productive cough. She had no history of smoking or dust exposure and no relevant family history. She had no notable physical findings suspicious of TAFRO syndrome, including anasarca. High-resolution computed tomography (HRCT) of the chest revealed reticular opacities in the right middle lobe and right axillary and mediastinal lymphadenopathies (Figure 1A) and no hepatosplenomegaly. The patient underwent right axillary lymph node biopsy and bronchoscopic lung biopsies of right S5, though no specific pathological findings were reported. She subsequently had dyspnoea on exertion and presented to our hospital in 2021. Her HRCT of the chest revealed worsening of the reticular opacities and new consolidations in the right middle lobe (Figure 1B). Blood tests revealed elevated C-reactive protein (1.78 mg/dL) and IL-6 (22.2 pg/mL) (Table 1). The patient tested negative for autoimmune antibodies, and her serum IgG4 level was low (134 mg/dL) (Table 1). The bronchoalveolar lavage fluid obtained from right S4 showed lymphoid (not atypical lymphocyte)-dominant (Table 1), and however, lung biopsy specimens were pathologically nonspecific. She underwent in July 2021 pathological examination of surgical lung biopsy (partial excision of the right middle lobe and mediastinal hilar lymph node via video-assisted thoracic surgery) revealed plasma cells with multiple lymphoid follicles, with prominent germinal centres in the lymph node (Figure 2). The lung tissue showed diffuse infiltration of lymphocytes or plasma cells and lymphoid follicles with germinal centres located around lymphatic routes, which were consistent with chest HRCT findings, diagnostic for Castleman's disease, then she was diagnosed with iMCD. She was also diagnosed with AIN associated with iMCD, because of neutropenia (1203/muL; Table 1) with no specific findings in her bone marrow biopsy specimen and positive for serum anti-neutrophil antibodies. Prednisolone treatment was effective for her respiratory symptoms, chest image findings (Figure 1C), and peripheral blood neutrophil count (Figure 1).",
"gender": "Female"
}
] |
PMC10730457
|
[
{
"age": 18,
"case_id": "PMC11319060_01",
"case_text": "An 18-year-old male patient initially presented to our clinic at the age of 11 with recurring complaints of itchiness and excessive tearing, along with a history of corneal ulcer in the left eye. During the first visit in 2015, papillae were identified on the superior tarsal conjunctiva of both eyes. The patient was diagnosed with vernal conjunctivitis and received topical and oral treatments, including gatifloxacin eye drops, prednisolone acetate eye drops, fusidic acid eye ointment, and a combination of oral antihistamines and steroids. However, 6 months later, the patient reported experiencing the same symptoms, and papillae and ropey discharge were observed in both eyes. Despite receiving extensive management for vernal conjunctivitis, it can be concluded that episodes occur approximately twice a year, or every 6 months.\nIn the second year, 6 months after the second episode, the patient once again complained of itching, watery discharge, and a sensation of foreign body presence in both eyes. Additionally, the patient reported blurred vision and sensitivity to light, particularly in the left eye. Upon examination, it was found that the vision in the left eye had decreased from 1.0 to 0.7. The ophthalmological evaluation revealed the presence of giant papillae (GP) in both eyes, leading to the formation of a shield ulcer in the left eye (Figure 1). Due to the corneal cicatrix formation and decreased vision, it was recommended for the patient to undergo papillary excision and receive a triamcinolone injection. Following the procedure, the symptoms did not recur for 10 months. However, in the third year, the patient experienced a worsening of symptoms with the presence of large cobblestones during the examination (Figure 2). Ropy discharge was prominent, and there was a minor defect on the cornea. Considering the significant cobblestones on the superior eyelids, the decision was made to perform papillectomy, steroid injection in the intratarsal area, and amnion membrane transplantation. The patient's condition remained well-controlled for a year using an antihistamine (Patanol) and artificial tears. After a year, there was a recurrence of symptoms with gradual enlargement of papillae (Figure 3), leading to chronic irritation despite topical antihistamine and steroid. Additionally, the patient exhibited giant cobblestones causing pseudoptosis (Figures 4 and 5), along with an increase in astigmatism in the refractive measurements. In response, a combined papillectomy and autologous conjunctival membrane graft were performed. The results of pathological examination found tissue with nonspecific chronic inflammation with prominent eosinophil.\nFollowing the surgical intervention, the clinical monitoring revealed a relatively smooth upper tarsal conjunctiva throughout the 2-year follow-up period (Figure 5). This resulted in a reduction of mechanical ptosis, the corneal surface in both eyes maintained a relatively clear condition, and GP had not reoccurred. Subsequently, the patient's symptoms were effectively managed through the use of topical medications.\nThe surgical procedure employed in this case was a modified version of the technique described by Nishiwaki-Dantas et al.. The patient underwent general anesthesia for the surgery. To expose the GP, the superior eyelid was everted and secured with sutures. A full-thickness horizontal incision was made approximately 5 mm above the superior border of the tarsus, just posterior to the lid margin, through the conjunctiva. Complete resection of the GP was performed using scissors and a surgical blade. The remaining conjunctival tissue on the tarsus plate was carefully scraped off until a relatively smooth surface was achieved, taking care to avoid the palpebral margin, meibomian glands, and eyelash follicles. Hemostasis was achieved by applying a surgical sponge soaked in diluted topical vasoconstrictor and using bipolar cautery to control bleeding from the tarsal conjunctiva. For the autologous conjunctival membrane graft, subconjunctival injection of bupivacaine was administered to separate the layers between the bulbar conjunctiva. The graft, measuring approximately 5 x 15 mm, was bluntly dissected 5 mm from the limbus and securely attached to the denuded area on the upper tarsus using interrupted sutures of 8-0 polyglactin. Subsequently, a subconjunctival injection of dibekacin (40 mg/mL) and dexamethasone was given, followed by placement of a bandage soft contact lens (Figures 6 and 7).\nPostoperatively, the patient was prescribed topical 1% prednisolone acetate and levofloxacin to be administered every 4 h. Bandage soft contact lenses were worn for a minimum of 7 days to aid in the healing process (Figures 8 and 9).",
"gender": "Male"
}
] |
PMC11319060
|
[
{
"age": 24,
"case_id": "PMC10762347_01",
"case_text": "The patient is a 24-year-old right-hand dominant Hispanic female that initially presented to an urgent care office in October 2021 with a right small finger mass on the ulnar aspect of the proximal interphalangeal joint that had been present for several months prior to presentation. She had no pertinent medical or surgical history and a family history positive for renal cell carcinoma and diabetes on her maternal side of the family. She reported the mass would grow and reduce in size, especially during her pregnancy, when at times, she states it would grow to the size of an olive. Her pain worsened after pregnancy, with her newborn child grasping the finger frequently. The urgent care provider attempted aspiration of the mass, which was unsuccessful, and it was diagnosed as a likely ganglion cyst. The patient saw another local hand surgeon sometime after her urgent care visit, with apparent plans to remove the mass that was never executed. In March 2022, the patient presented to the treating hand surgeon with complaints of increasing pain and an open wound with bleeding from the original site of the mass starting one month prior. Plain radiographs (Fig. 1) demonstrated a soft tissue mass on the ulnar aspect of the small finger near the PIP joint, with some possible small punctate calcifications seen within. The patient underwent a surgical excisional biopsy of the mass on 3/15/22. The surgical pathology was reviewed by two independent pathologists, which was consistent with low-grade leiomyosarcoma of the finger. The immunohistochemical staining and histological slides are seen in Fig. 2. The patient underwent a PET/CT scan in early April 2022 (Fig. 3), demonstrating a suspicious lymph node in the right axilla. However, the treating oncologist thought it was benign and likely reactive. This is a clinical and pathologic assessment consistent with AJCC stage 1 A disease. The right small finger mass was also appreciated on the PET/CT scan. A general surgeon was also consulted for a second opinion and felt the lymph node to be benign and reactive.\nGiven the above clinical and imaging findings, in early May 2022, the patient was discussed at the tumor board of the treating hospital, and it was agreed that she would likely get the most benefit from a ray amputation. Routine laboratory studies around this time were unremarkable for any infectious or inflammatory workup. The same day, the patient presented to the treating surgeon's office with a new complaint of another mass, which was more distal on the small finger than the original mass. The exam and radiographs seemed consistent with what was likely another focus of leiomyosarcoma. On 6/15/22, the patient underwent successful right-hand minor finger ray amputation for her primary leiomyosarcoma. The small finger ray was amputated to the level of the mid-metacarpal shaft. The small finger digital nerves also underwent targeted muscle reinnervation. The wound was closed with primary wound closure (Fig. 4). The surgical margins assessed by a pathologist were clear for any tumor, with the biopsy results again consistent with low-grade leiomyosarcoma. The patient was followed by her medical oncologist and the hand surgery team as an outpatient over the next several months. Her disease was stable, with the right axillary node showing no sign of change on repeat chest CT scans. The patient's right hand showed no evidence of recurrence or residual tumor clinically or on an MRI of the right hand obtained on 10/11/22. The patient continues progressing well postoperatively and initiated hand therapy approximately three weeks postoperatively. Most recent occupational therapy clinic notes indicated the full function of the right-hand digits 1-4, flexion 0.5 cm from the distal palmar crease, and comparable grip strength to the contralateral hand. She has no pain or other masses. Postoperatively she commented on a prominent and ropy scar, for which she also underwent aggressive therapy and massage (Figs. 5-6). Continued oncologic surveillance and repeat MRI of the right hand showed no local or systemic disease recurrence at nine months postoperatively (Figs. 7-8).",
"gender": "Female"
}
] |
PMC10762347
|
[
{
"age": 79,
"case_id": "PMC11129854_01",
"case_text": "The patient was a white, 79-year-old male. He was admitted via emergency because of pain at rest in the left lower limb, which had worsened approximately 10 days previously. Physical examination found the patient in good general health, with good color and hydration and peripheral perfusion preserved. There was necrosis of the fifth toe of the left foot, with no signs of inflammation. The patient had a personal history of systemic arterial hypertension and peripheral arterial occlusive disease and was a long-term smoker. Initially, laboratory tests and imaging exams were ordered and the patient was admitted. Once admitted, a 60 mg dose of enoxaparin was administered by injection with a 0.6 mL syringe, in addition to analgesia with a 100 mg ampoule of Tramadol and a 1g ampoule of Dipyrone, both injectable, and the left lower limb was warmed. Laboratory tests showed sodium at 136 mmol/L, with no other abnormalities. Doppler ultrasound of the left-side arteries revealed monophasic flow in the common femoral artery, with occlusion of a proximal and medial segment of the femoral artery. The popliteal artery had monophasic flow; the tibial and fibular arteries had monophasic flow, with occlusion of a distal segment of the posterior tibial. The patient remained in hospital for 13 days in a standard ward for clinical treatment and general care. While in hospital, physiotherapy was administered for the peripheral vascular dysfunctions and for the respiratory disorder without systemic complications. On the seventh day in hospital, aortography and arteriography of the left lower limb were ordered, showing the abdominal aorta with normal morphology and flow and diffuse parietal irregularities.\nOn the 13th day, the patient's left lower limb had not improved, despite the clinical treatment. The necrosis persisted and there was now discrete yellow secretion, with no hyperemia or local heat, and pulses were not palpable. In order to assess the possibility of transfer to a specialist service in a nearby town, computed angiotomography was ordered on the 13th day. Axial angiotomography slices were acquired of the abdomen after intravenous injection of contrast medium, on which the only remarkable findings were the arterial phase showing opacification of the abdominal aorta and duplication of its inferior portion. The anterior portion had a caliber of 2.6 cm and bifurcated into the external iliac arteries. The posterior portion had a caliber of 2.2 cm, giving rise to the inferior mesenteric artery, which was partially thrombosed and bifurcated into the internal iliac arteries (Figures 1 and 2). The internal iliac arteries were partially thrombosed, more notably on the right, and their distal branches were partially perfused by collaterals from the ipsilateral external iliac arteries. The posterior intercostal arteries originated directly from the thoracic aorta segment. No anomalies of other sites were observed on tomography. A decision was taken to transfer the patient to the specialist service the same day and he was prescribed fasting from 6pm onwards. He was followed-up by a care team in the nearby town.",
"gender": "Male"
}
] |
PMC11129854
|
[
{
"age": 25,
"case_id": "PMC10721368_01",
"case_text": "A 25-year-old previously healthy woman in the 27th week of gestation of her first pregnancy was rushed to our emergency department with the chief complaint of sudden-onset left chest pain, dizziness, and dyspnea without trauma. Physical examination revealed decreased breath sounds on the left side, dull percussion notes, and decreased vocal tactile fremitus but no evidence of cyanosis. Obstetric ultrasound revealed a single live intrauterine fetus. Computed tomography angiography (CTA) showed left pleural effusion that caused complete hemithorax opacification and an aneurysmal PAVM with a feeding branch of the upper right pulmonary artery and a dilated draining vein ( Fig. 1 ). Systolic blood pressure decreased to 70 mm Hg despite continuous intravenous infusion. Initial laboratory test results revealed normal platelets, a normal coagulation panel, and hemoglobin of 7.8 g/dL. Thoracentesis revealed blood collection in the left chest, and the patient was diagnosed with hemothorax with persistent bleeding. After multidisciplinary discussions with anesthesiologists and obstetricians, we decided to treat the primary cause first and extend the gestational age to the extent possible. We decided to perform emergency video-assisted thoracic surgery (VATS) because the patient's condition was considered life-threatening. After removal of the retained thrombus and blood inside the pleural space, measuring ~3,000 mL, a ruptured PAVM was identified in the upper lobe of the left lung ( Fig. 2 ). Wedge resection was performed using an endostapler ( Fig. 3 ). No other obvious lesions were found in the lung parenchyma or thoracic wall. As a result, the bleeding was successfully stopped, and the patient's vital signs recovered. Red blood cells (800 mL) and fresh-frozen plasma (800 mL) were transfused during the surgery. Histological examination of the resected lung specimen confirmed a diagnosis of PAVM ( Fig. 4 ). The postoperative clinical course was uncomplicated, and the patient was discharged on the sixth postoperative day. At the time of publication, the patient had vaginally delivered a live baby. She and the baby are currently healthy.",
"gender": "Female"
}
] |
PMC10721368
|
[
{
"age": 50,
"case_id": "PMC10546669_01",
"case_text": "A 50-year-old postmenopausal woman presented with complaints of recent vaginal bleeding and something coming out of the vagina. There was no previous history of vaginal bleeding and discharge. A gynecological examination revealed prolapsed uterus with an ulcer in the posterior lip of the cervix, which bled on touch. The lower abdomen ultrasonography showed the presence of an ill-defined hyperechoic polypoidal lesion within the uterine cavity. She underwent a vaginal hysterectomy for a prolapsed uterus. On gross examination, the endometrium was irregular, and the cavity was filled with a yellowish friable material, a polypoid growth, and yellow-colored stones (Figure 1). The myometrium was grossly unremarkable.\nMicroscopically, the endometrium showed sheets of lipid-containing histiocytic cells and chronic inflammatory cells. Few well-preserved endometrial glands and multinucleated giant cells were noted, but well-defined granulomas were absent (Figures 2A, and 2B).\nThe cervix and myometrium were uninvolved. The diagnosis of xanthogranulomatous endometritis (XGE) in this case was made based on the presence of numerous foamy histiocytes together with other chronic inflammatory cells.",
"gender": "Female"
}
] |
PMC10546669
|
[
{
"age": 9,
"case_id": "PMC10940339_01",
"case_text": "A previously healthy 9-year-old boy presented with a palpable mass on his penis, which was only the size of a soybean when first discovered one year ago. Subsequently, the mass extended along the dorsal aspect of the entire penis, and another mass was palpable on the left inguinal area six months later. He did not experience any penile pain or urinary obstruction, and no family history of a genetic nerve sheath tumor was reported. Physical examination revealed no cafe-au-lait spots. A soft subcutaneous mass with moderate mobility, about 5.0 cm in length, was palpable at the base and dorsum of the penis. A similar 2.0 cm nodule appeared in the left inguinal region, without tenderness, but was hardly movable. Blood and urine tests were all within normal range.\nPenile ultrasonography suggested a hypoechoic mass extending from the base to the dorsal side of the penis and measured 5.2 x 1.1 x 3.5 cm. The mass showed a clear boundary distinguishing it from the penile corpus cavernosum, with internal linear echogenic septa, slightly enhanced posterior echogenicity, and very limited vascularity inside. A well-defined homogeneous hypoechoic mass without notable septa was found in the left groin area ( Figure 1 ). Both masses presented with low-to-intermediated signal intensity in further evaluation with pelvic computed tomography (CT). No definite enhancement was displayed on postcontrast images ( Figure 2 ).\nGiven the size of the tumor and its increasing trend, a surgical removal was planned. Resection of both masses was performed under general anesthesia. The penile mass was between deep and superficial fasciae, with intact capsule and clear margins, which made it easy to separate the mass from adjacent tissue. Beneath the left inguinal ligament, a similar mass was detected on the outer side of the femoral artery. Both lesions were spindle-shaped with yellowish surface and were completely resected with minimal intraoperative bleeding. Intraoperative frozen section pathological examination indicated a benign neural-origin tumor. Thus, no extended excision was performed. The appearance of the penis was not notably impacted postoperatively ( Figure 3 ).\nHematoxylin-eosin (H&E) staining ( Figures 4A, B ) showed that fibrous tissue divided the tumor into multiple nodules. A typical pattern of mixed Antoni A and Antoni B areas was demonstrated. The predominant distribution was Antoni A areas, characterized by spindle-shaped cells with palisading nuclei arranged in a fascicular or crisscross pattern. Immunohistochemistry staining demonstrated diffuse expression of S-100 ( Figure 4C ), mainly in Antoni A areas and primarily concentrated in the nucleus ( Figure 4D ). Both the penile and inguinal masses were diagnosed as plexiform schwannomas. There was no evidence of tumor recurrence or metastasis after 6 months of follow-up. The patient urinated well and the erectile function of penis was normal.",
"gender": "Male"
}
] |
PMC10940339
|
[
{
"age": 4,
"case_id": "PMC11327395_01",
"case_text": "Functional mapping was performed in seven of nine patients with 5 patients demonstrating overlap of epileptogenic foci with eloquent cortex as determined by functional mapping or based on classical anatomy (Table 2; Table 3). Of the two not mapped, Case 2 was only 4 years old and Case 1 had surgery with the expectation of new visual deficits, making mapping superfluous. Specifically, visual responses were identified in Case 3 and 8, while reading disruption was identified in patient 7. Intracranial EEG indicated that the seizure focus included occipital cortex in seven patients, temporal cortex in eight patients, and parietal cortex in two patients. Only patients 3 and 5 had seizure onsets confined to a single lobe.\nThree patients presented with preoperative neurologic deficits. Case 2 presented with receptive/expressive aphasia which was noted to be relatively improved post-operatively. However, the patient developed a new right homonymous hemianopsia post-operatively. Case 6 presented with general visual field deficits preoperatively which remained stable following surgery. Case 7 presented with auditory deficits and an inability to perform confrontational naming of which both resolved following surgery. Four patients presented without preoperative neurologic deficits but subsequently developed a new postoperative neurologic deficit. Cases 1, 2, and 9 all developed new postoperative right visual field defects with cases 1 and 9 additionally developing new deficits in reading ability and transient expressive aphasia, respectively. Case 8, as with case 1, developed a new deficit in reading ability. Finally, Case 3 and 7, both of which were found to have a MCD following post-operative pathology, developed a right homonymous superior quadrantopia following surgery.",
"gender": "Unknown"
}
] |
PMC11327395
|
[
{
"age": null,
"case_id": "PMC10895682_01",
"case_text": "When our team met her, Ms. G was a single woman in her early forties, a well-educated scientist working in a provincial public service position. She had been away on a work trip when, three days into the trip, she experienced a sudden onset of gastrointestinal symptoms late one night. As she described to us, she realized something was \"very wrong\" when what seemed like typical nausea and vomiting was suddenly accompanied by a rapid and progressive loss of sensation and motor control in her right leg.\nThe day of the stroke, I had felt off. Off, in the sense that I felt like maybe I was getting sick, that something was coming... I felt so rundown that I declined going out with [my colleagues] and I thought I would just have a quiet night. I continued to not feel terribly well throughout the course of the night and I ended up going to bed a little bit early, around 10:00. Then, I woke up at 11:00, with an intense need to vomit... Then, around 2:00, I started to realize that something was very, very wrong, because I had lost feeling in my right leg. It started as a tingle and then it progressed into full paralysis of my right leg... I was starting to suspect I was having a stroke, I ended up calling 911. I told the ambulance attendant that I couldn't move my right leg and we went to the hospital. That's where the story gets really bad. The nurses that I was assigned did not believe me when I told them that I had lost feeling in my right leg. They thought that I was lying to them and were refusing care to me. (Ms. G)\nOur team met Ms. G less than one year from her stroke and she was doing well, all things considered. She had access to rehabilitation, she was supported with workplace accommodations, she was managing mood and cognitive symptoms with multidisciplinary supports.\nThe Y-Stroke Needs study aims to understand the challenges facing young stroke survivors, from the onset of symptoms, through acute care and the rehabilitation process, to long-term survivorship (UHN REB #17-6092; all study participants provided written informed consent). Ms. G participated in the qualitative arm of the project, sharing with us her narrative of the experiences she had as she moved through the post-stroke pathways within the Canadian healthcare system. Even for as much as her outcomes were positive, overall, the experience of accessing stroke care had been marked by distress.\nAt one point in time, I was so desperate for water, and I knew that the water fountain was directly next to my bay, I decided to try and walk there. Forgetting, of course, that my right leg was paralyzed. As soon as I tried to stand up, I hit the ground. That's when one of the nurses told me outright that I was lying, that she had seen me move my leg and since I had put myself onto the ground, I could get myself back up. So, I tried to do that, and I ended up falling backwards and dislocating my thumb. Which she then accused me of lying about. She told me my thumb was just double-jointed and that it could move back. I was in the ER of [the general hospital] from 4:00 in the morning until noon. At noon, I was transferred out to the designated stroke hospital in [that city's] system. (Ms. G)\nDespite symptoms typical of public education campaigns and infographics on stroke (e.g. sudden onset of unilateral weakness), her symptoms were minimized, unrecognized, and mischaracterized, putting Ms. G well beyond the optimal window for acute stroke identification and initial management. The challenges and issues prompted by her experience are not simply related to a misdiagnosis through the inevitabilities of human error or the subtleties and evolution of clinical signs and symptoms.\nMs. G had articulated and displayed physical signs and symptoms of stroke: these were interpreted by healthcare providers through a lens that could not make sense of these as stroke symptoms, because of her intersecting social identities. A younger, single, white woman, her exam findings were read as anxiety at best and manipulation at worst:a throwback to categorizations of hysteria that continue to impact the uptake of women's embodied experiences in the healthcare system. The enduring legacy of hysteria as a label for women's health concerns highlights the persistent gender biases within the healthcare system. Relegating symptoms to historic stereotypes risks overlooking legitimate health issues, perpetuating a cycle of disbelief that can impact the quality and timeliness of care. Acknowledging this historical context is crucial for dismantling stereotypes and ensuring a more equitable and compassionate approach to women's health, rooted in evidence-based medicine and a genuine understanding of diverse experiences.\nI literally told the EMT who picked me up, and this is a quote, \"it's like my brain is sending signals that my foot isn't responding to\". And I don't know how that information didn't get to the nurses who were responsible for my care. It seems to me that was pretty self-explanatory what it meant. But I think the one thing, people really need to understand the signs of stroke in younger women. My nurses, I know I told you this, but they not only didn't believe me:they accused me of lying about my symptoms. And that, to me, is unconscionable. (Ms. G)\nLike Ms. G, women who present with stroke are more likely to have their symptoms go unrecognized; variations exist in the timeframe at which women receive standardized and evidence-based care and the type of care offered compared to men, including being less likely to be seen by a stroke specialist or receive diagnostic testing. The interplay between gender and adherence to guidelines is also rapidly evolving: in 2018, two-thirds of heart and stroke clinical research was reported to be based on symptoms in men; 28% of women received ECG within 10-min period in contrast to 38% of men; clot-dissolving therapy (within the recommended 30-min period) was offered to 32% of women in contrast to 59% of men. More recently though, we see significant geographic differences and a multiplicity of factors underlying in gender inequity in the detection of stroke as well as increasing sex-based parity within time trends in endovascular therapy. Gender bias-based \"knowledge gaps\" are variable in how they translate to clinical disparities in prevention, diagnosis, post-stroke care and secondary outcome within the dynamic relationships between age, gender, ethnoracial identity, language and nationality.\nSocial ecological models of disparities relating to access to stroke care and functional outcomes from stroke are particularly demonstrative of the ways that gender, ethnoracial minoritization and class/socioeconomic status are mutually constitutive of increased barriers and worsened outcomes. Epidemiological data relating to inequity and health disparities in stroke are well-documented, but understanding underlying causes has been more lacking, often due to the complex and multi-level nature of the phenomena: intra- and interpersonal factors including implicit bias and stereotype threat; institutional and organizational factors such as the number of care transitions that take place in stroke pathways; multidirectional neighborhood and community factors that influence predisposing factors in addition to accessibility of care, referral pathways, and functional supports; and larger policies and practices that can embed structural forms of racism amongst other discriminatory practices in health settings.\nI had to wait until the ER doctor came to see me, which was, to the best of my recollection, was about 9:00 a.m. The ER doctor did a quick reactivity test on my foot, realized that there was absolutely no reaction and immediately sent me for a CT scan. That's when they found the two bleeds. He also attempted to push my thumb back into place, without anaesthetic, which caused me to scream very loudly. It was quite dislocated. So, I certainly hadn't made up that injury. To this day, I still don't have full functionality back in my thumb. (Ms. G)\nWhile the interpersonal factors that Ms. G cogently described are notable within this particular case, we also have to consider how larger systems and structures facilitate (or alternatively can correct) implicit biases. It is inadequate to attend only to individual-level factors in understanding what hinders timely and accurate diagnosis and treatment. Her younger age and a combination of typical as well as \"atypical\" symptoms decreased attention to stroke as a possibility. Young people have higher occurrence of less typical stroke symptoms and greater heterogeneity in stroke etiology; this is especially true for women. But rather than consider that age and gender might lead to the presence of less typical stroke symptoms, in this case the intersection (particularly with gender) contributed to the characterization that Ms. G was not straightforward or was mistaken in her depiction of these symptoms. This reflects how \"typical\" symptoms have been determined based on older (usually male) bodied experiences, which get set as the unmarked norm; it also reflects what Maya Dusenbery has termed the \"trust gap\" that operates in healthcare settings. The \"trust gap\" refers to a tendency to treat particular group members as less credible in their testimony or interpretation of their own experiences, contributing to a dismissal or minimization of symptoms, under-treatment, and misdiagnosis.\nThe \"trust gap\" is lockstep with knowledge gaps and can be understood as contributing to what has been termed epistemic injustice:a form of injustice in which particular group members are regarded as less credible or knowledgeable about their own situation due to their social position qua group member. Epistemic injustice exacerbates negative psychosocial impacts of medical experiences, affecting a person's sense of self, their ability to trust their own judgments, and their recovery process, while further contributing to asymmetries of knowledge/power within medical contexts.\nOnce I was transferred to the designated stroke hospital, my care improved significantly... I was [also] in rehab for about a month... My stay [in rehab] was great, everyone there was fantastic... At the point when I was discharged, I was walking with a cane. Then, about a week after I was discharged, I was able to stop using the cane completely. At this point in time, my leg is completely recovered. I still have a little bit of the frozen arm thing happening. I can almost get my arm up, but not quite yet. But, it's improved quite a lot. The only other major effect that I'm feeling is a bit of short-term memory loss...\nI'd say, there needs to be more understanding, awareness and recognition of what stroke looks like in younger people. They let me sit in the ER department for five hours, without doing any sort of neurological assessment. Had I had a clot-based stroke, my outcome would be very different right now. I'm extremely lucky that it was a hemorrhagic stroke. (Ms. G)\nImportantly, Ms. G also occupied social positions of privilege:white, fluent in the language, higher socioeconomic group, employed:and so she was also able to advocate for herself once out of the emergency area. Her experience of being misdiagnosed and experiencing the trust gap about her symptoms was certainly distressing but was not repeated in numerous other health contexts she interfaced with. It did not stop her from accessing further rehabilitation services. Care transitions are an identified area where stroke survivors from historically disadvantaged groups are likely to face challenges. Ms. G's social identities contributed to misdiagnosis, but they became assets as she transitioned out of the initial healthcare setting, reflecting the dynamic nature of intersectionality.",
"gender": "Female"
}
] |
PMC10895682
|
[
{
"age": 26,
"case_id": "PMC11253903_01",
"case_text": "A 26-year-old male was found collapsed on an air-filling machine while working after an electrical shock. The autopsy was conducted the next day. On external examination, the corpse was of a young adult male, average built, 161 cm in length. At autopsy, there was multi-visceral congestion without any internal hemorrhage. Internal organs were unremarkable except for the heart (weight 380 g, mean reference range 327 g), with a soft greyish-white nodule on the left ventricle anterolateral aspect measuring 1.5cm X 1.2cm and was 4 cm above the apex (Figure 1). Externally, the cystic swelling was fixed and extended into the left myocardial ventricle wall. The remaining heart examination, on sectioning, was unremarkable.\nMicroscopic examination using H&E staining of the paraffin sections showed a cyst overlying the myocardial surface (Figure 2A, 2B). The presence of a tortuous linear lamellate structure showing hyalinized amorphous eosinophilic wall and tiny brood capsules on one side of its surface was depicted. The cyst was formed and walled off by a thick fibrous capsule, thus confirming the diagnosis of a cardiac hydatid cyst. Histological findings of the ventricles and coronary arteries were unremarkable.",
"gender": "Male"
}
] |
PMC11253903
|
[
{
"age": 77,
"case_id": "PMC11233435_01",
"case_text": "A 77-year-old postmenopausal woman (para 2) presented to our hospital with a 2-month history of vaginal bleeding. Notably, she had a past history of tuberculosis, which was successfully treated with regular anti-tuberculosis therapy. Additionally, she was diagnosed with hypertension, coronary heart disease, and hypothyroidism over 10 years ago and is currently maintaining a stable condition with regular medication. A comprehensive physical examination revealed no abnormalities, and thorough dermatological, mucosal, and ocular inspections failed to detect any signs of primary melanoma. However, a significant finding was a 5 cm x 4 cm cauliflower-shaped dark brown lesion with a blood clot adhering to the surface of the cervix. Furthermore, a black nodule approximately 1 cm in diameter was observed at the 7 o'clock position on the posterior vaginal wall, located 2 cm from the fornix. Scattered melanin deposits were also visible on the lateral wall of the vagina. Gynecological examination suggested bilateral parametrial tissue invasion, although it did not extend to the lateral pelvic wall. A cervical biopsy revealed a round-cell tumor exhibiting solid growth and abnormal mitotic activity. The tumor cells were round-shaped and atypical, with conspicuous nucleoli indicative of malignant melanoma. Immunohistochemical results strongly suggest a diagnosis of malignant melanoma, based on positivity for HMB45, Melan-A, and S-100 and negativity for epithelial markers including P-CK, EMA, P16, P63, CK5/6, and P40. Vim positivity indicates a possible mesenchymal origin, while a high Ki67 positive rate (80%) suggests a tumor with high proliferative activity and potential for metastasis ( Figure 1 ). However, a comprehensive evaluation, including clinical, histopathological, and radiological data, is necessary for a final diagnosis.\nThe pelvic CT scan indicates a relatively enlarged cervix with inhomogeneous enhancement. ( Figure 2 ). Positron-emission tomography-computed tomography (PET-CT) also revealed increased fluorine-18-deoxyglucose intake lesions in the cervix without lymph node enlargement or any metastasis involving the skin or other mucosal sites ( Figure 3 ). The patient was clinically diagnosed as stage IIB according to the International Federation of Gynecology and Obstetrics (FIGO 2018) classification system.\nResearch indicates that dacarbazine demonstrates significant therapeutic effects in 15% to 20% of patients with mucosal melanoma. The combination of temozolomide and cisplatin chemotherapy has been shown to prolong relapse-free survival. Additionally, the combination of dacarbazine, cisplatin, and vinca alkaloids has an effective rate of up to 32%. Based on the chemotherapy experience with mucosal melanoma, the recommended primary chemotherapy regimen for cervical melanoma involves monotherapy or combination therapy, primarily using dacarbazine or its oral analog, temozolomide. The patient first received two cycles of neoadjuvant chemotherapy: dimethyl triazemo imidazole, carboxamide 200 mg d1 to d5, and cisplatin 30 mg d1 to d3 for two cycles. After two cycles of chemotherapy, the patient was assessed for no significant reduction in the cervical lesion. The treatment regimen was then switched to pabrolizumab 200 mg for three cycles. After previous treatment, the patient's cervical lesion shrank ( Figure 4 ). The total diameter of the target lesion decreased by approximately 28%, and the patient achieved SD according to the RECIST guideline (version 1.1). After evaluation by the surgical professor, it was pointed out that the patient had a chance for surgery. Therefore, a radical hysterectomy and a bilateral salpingo-oophorectomy were performed. The size of the tumor was 5 cm x 4 cm ( Figure 5 ). The postoperative results revealed a highly cellular neoplasm that was composed of a round-shaped atypical tumor with a conspicuous nucleolus. The immunohistochemical staining of Melan-A, HMB-45, and s-100, S-100 was positive. The NARS, BRAF, and KIT mutations were negative. The tumor invaded the middle 1/3 of the cervical mesenchyme, and the vaginal surgical margin of the specimen was positive. The tumor did not extend to the cervical-uterine junction, surgical resection margins of the pelvic sidewall, parametrial tissues, lymph nodes, or adnexa. After the operation, she underwent intravenous administration of 200 mg of pembrolizumab, administered every 3 weeks for 18 courses. This patient was assessed after the end of treatment and achieved clinical complete remission ( Figure 6 ). She was reviewed every 3 months after treatment, and to this day, no signs of tumor recurrence have been detected. Throughout the time of treatment and follow-up, this patient developed immune-related dermatitis, which improved with the administration of hormonal therapy. This patient has survived for 49 months since the initial treatment and is now generally living a good life.",
"gender": "Female"
}
] |
PMC11233435
|
[
{
"age": 6,
"case_id": "PMC11216340_01",
"case_text": "A previously healthy six-year-old girl, without relevant family or consanguinity history, presented with a 24-month history of hyporexia, increase in abdominal circumference, and recurrent emesis; in the last two months with thoracic pain and progressive decrease in functional class. She was found with hepatomegaly approximately 6 cm below the costal margin. An initial echocardiogram revealed severe dilation of the suprahepatic veins and inferior cava vein, with severe biatrial dilation, diastolic dysfunction with a restrictive pattern, and indirect signs of pulmonary hypertension. RCM was suspected and management with diuretics, carvedilol, and enalapril was begun, with improvement in functional class.\nStudies were requested to clarify the etiology of RCM, cardiac magnetic resonance reported left ventricular hypertrabeculation with a non-compaction region/compaction region ratio of 4:1, systolic dysfunction, significant hypertrabeculation of the ventricular cavity, dilation of the right ventricle with deterioration of systolic function (Figure 1). In addition, a 24-hour Holter ECG described right and left atrial changes and repolarization disorder in precordial leads. Due to the foregoing, the patient was discussed in a cardiology meeting, considering the coexistence of restrictive cardiomyopathy and hypertrabeculation.\nAnti-failure medical management was started and there was improvement in the New York Heart Association (NYHA) functional classification from III to II. However, after a few months, the patient evidenced clinical deterioration, requiring hospitalization in the intensive care unit for refractory heart failure, and a cardiac tamponade diagnosis was made requiring a pericardial window, support by extracorporeal mechanical oxygenation and subsequent massive cerebral hemorrhage leading to her death.\nWritten informed consent was obtained from the minor's legal guardian/next of kin, to publish any potentially identifiable images or data in this article. The ethics committee approved the conduct of the study.\nBecause of the diagnosis of early-onset RCM, the medical genetics team was consulted. Physical examination was unremarkable, and there was no family history of cardiomyopathies or sudden cardiac death. After a careful review of the case, whole exome sequencing (WES) was performed.\nA novel heterozygous missense variant in the FLNC gene (NM_001458.5) was identified: c.7559C>A, p.Thr2520Asn and confirmed by Sanger sequencing. This substitution converts the threonine codon at position 2520 into asparagine, located in the ROD2 domain in which there is clustering of variants associated mainly with hypertrophic cardiomyopathy. This variant has not been reported in population databases or current medical literature and is classified as likely pathogenic.\nOther gene variants identified in this case were: a heterozygous frameshift variant in the AGK gene (NM_018238.4): c.675delG, p.Trp225CysfsTer6, classified as pathogenic according to ACMG guidelines; and a heterozygous missense variant in the PKP2 gene (NM_004572.4): c.1163G>A, p.Arg388Gln, classified as a variant of uncertain significance (VUS).",
"gender": "Female"
},
{
"age": 34,
"case_id": "PMC11216340_02",
"case_text": "No other gene variants were identified in this case. The patient's mother (34 years old), father (38 years old), and paternal grandparents (55 and 62 years old) consented to genetic testing, finding that the father was a carrier for both the FLNC and AGK variants (Figure 2). He has a normal echocardiogram and is currently being evaluated by the cardiology team.",
"gender": "Male"
}
] |
PMC11216340
|
[
{
"age": 49,
"case_id": "PMC10624022_01",
"case_text": "A 49-year-old female presented to an outside hospital with generalized weakness, abdominal pain, and back pain. She noted the onset of weakness 1 month prior to her presentation and abdominal fullness for a year. Physical exam was notable for marked splenomegaly. On admission, her hemoglobin was 9 (11.6-15.0 g/dL), platelet count was 40 x 109/L (157-371 x 109/L), and white blood cell (WBC) count was 45 (3.4-9.6 x 109/L) with 17% blasts. Bone marrow core biopsy was 100% cellular with marked myeloid predominance and 30% to 40% blasts. Chromosome analysis identified 2 related abnormal clones. One contained a complex 4-way rearrangement between the long arm of chromosomes 1, 11, 9, and 22, generating a BCR-ABL rearrangement and a deletion in the long arm of chromosome 14. The second abnormal clone contained a translocation between the short arm of chromosomes 7 and 12. Fluorescence in situ hybridization (FISH) also confirmed the BCR-ABL1 gene rearrangement in 62% of cells. Next-generation sequencing was negative for ASXL1, DNMT3A, FLT3, IDH1, IDH2, NPM1, RUNX1, TET2, TP53, and Wt1. The bone marrow biopsy and cytogenetic studies suggested either de novo BCR-ABL positive acute myeloid leukemia (AML) or chronic myeloid leukemia with blast crisis (CML-BC). It was felt that the overall picture was more suggestive of CML-BC given the marked splenomegaly and 1-year history of abdominal fullness.\nShe was treated with induction chemotherapy with cytarabine plus daunorubicin (7 + 3) and subsequently started on dasatinib 140 mg twice daily. Follow-up bone marrow biopsy confirmed complete morphologic remission. Chromosomal analysis showed a normal female karyotype, and FISH was negative for BCR-ABL translocation, indicative of complete cytogenetic remission. She was referred to our institution for an allogeneic hematopoietic stem cell transplant (SCT) and underwent a matched related donor SCT. She received myeloablative conditioning with fludarabine and busulfan.\nShe had a stable course until day +81 when she was noted to have a new leukocytosis with increased blast count. Upon admission to the hospital, laboratory tests were notable for hemoglobin of 11.7 (11.6-15.0 g/dL), platelet count of 20 (157-371 x 109/L), WBC of 39 (3.4-9.6 x 109/L) with 10% peripheral blasts, prothrombin time (PT) 18 (9.4-12.5 seconds), internationalized normal ratio (INR) 1.6 (0.9-1.1), activated partial thromboplastin time (aPTT) 26 (25-37 seconds), fibrinogen 456 (200-393 mg/dL), and negative soluble fibrin monomers. On hospital day 2, she developed a fever of 38.4 C and hypotension, concerning for sepsis. Blood cultures showed no growth. Computed tomography (CT) scan of the abdomen and pelvis showed evidence of colitis. Stool testing was positive for Clostridioides difficile. Peripheral blast count rapidly increased from 10% on admission to 41% on day 4 of hospitalization. Bone marrow aspirate and core biopsy performed on hospital day 3 revealed nearly 100% cellular marrow with absent erythroids and megakaryocytes, 85% to 90% blasts, consistent with relapse of CML-BC (Figure 1). Fluorescence in situ hybridization analysis of peripheral blood confirmed BCR-ABL1 fusion in 54% of nuclei.\nThroughout hospitalization, patient was found to have a worsening coagulopathy. Complete blood count (CBC) revealed worsening anemia and thrombocytopenia with hemoglobin of 6.4 (11.6-15.0 g/dL), hematocrit of 19.2 (35.5%-44.9%), and platelet count of 9 (157-371 x 109/L). Internationalized normal ratio increased rapidly from 1.6 on admission to 4.1 on hospital day 2, corresponding with an increase in peripheral blast count (Figure 2). Prothrombin time was markedly elevated to 52.7 seconds, which mostly corrected when mixed 50:50 with normal pulled plasma, consistent with factor deficiency or presence of a weak inhibitor. Factor VII (FVII) activity was found to be markedly decreased at 3% (65%-180%). Factor II activity was 55% (Ref: 75%-145%), Factor X activity was 57% (Ref: 70%-150%), and Factor V activity was 77% (Ref: 70%-165%). Oral vitamin K 5 mg was administered without any improvement in INR or factor levels. Patient was noted to have a decreased level of responsiveness, prompting transfer to intensive care unit. A CT scan of the head ruled out intracranial hemorrhage. There was no further evidence of bleeding at that time. On hospital day 5, she was started on chemotherapy regimen for relapsed disease with cladribine 5 mg/m2 IV on days 1 to 5, cytarabine 20 mg subcutaneous twice daily on days 1 to 10, and venetoclax for 21 days. With cancer directed therapy, she showed clinical improvement and was transferred back to the hematology ward after 2 days. Upon regaining consciousness, she was able to communicate and expressed concerns for vision loss. A dilated fundus exam showed severe bilateral retinal hemorrhages. The coagulopathy rapidly improved after initiation of chemotherapy and correlated with decline in peripheral blast count (Figure 2). Ultimately FVII activity improved to 63% (Ref: 65%-180%) 2 weeks after initiation of chemotherapy. At time of hospital discharge, patient reported improvement of her blurry vision.\nTwo months later, a bone marrow aspirate and biopsy showed persistent disease with 70% blasts. At this time, FVII activity decreased again to 14%, and INR was 2.2. She was started on decitabine and venetoclax for refractory disease. FVII level activity remained low at 15% 10 days following initiation of decitabine and venetoclax; however, patient did not experience any bleeding during this time. She achieved a remission after 1 cycle of therapy. Owing to poor functional status, she was deemed not to be a candidate for a second allogeneic hematopoietic stem cell transplantation.",
"gender": "Female"
}
] |
PMC10624022
|
[
{
"age": 8,
"case_id": "PMC10800511_01",
"case_text": "All cases evaluated were male German shepherd dogs, except one male Belgian Malinois with ages ranging from 2.5 to 9.8 years old at the time of diagnosis (mean 5.5 SD 1.8) (Table 1). Six were castrated and 4 were intact (Table 1). The ages of 8 patients who received ECSWT and RT (treatment group) ranged from 2.5 to 6.3 years old (mean 5.0 SD 1.2) (Table 1). Two patients who did not receive ECSWT or RT were 5 and 9.8 years old at the time of diagnosis (mean 7.4 SD 2.4) (Table 1).\nNo specific activities or events were identified by the owners/handlers that led to the unusual gait.\nThree of the 8 patients in the treatment group had MRI to confirm the diagnosis of fibrotic myopathy of gracilis or semimembranosus. One patient had MSK US to confirm the diagnosis of fibrotic myopathy. The rest of the patients were diagnosed based on palpation of fibrotic bands and pathognomonic gait. One of the two patients who did not receive ECSWT or RT (non-treatment group) was diagnosed with fibrotic myopathy before his retirement per the handler 2 years prior to presentation. No referral record could be obtained (the previous clinic was closed and bought by another practice that did not keep his complete medical record) to verify the diagnosis. The diagnosis of fibrotic myopathy was confirmed by a board-certified surgeon at the AMC (2 years after his retirement and 4 years after diagnosis, through palpation and pathognomonic gait).\nAll 8 patients of the treatment group received ECSWT. Six of the patients had the recommended 3 treatments spaced 2 weeks apart and 2 had just one treatment. All 8 patients also received customized therapeutic exercises and manual therapies (Table 2). Other therapeutic rehabilitation therapies administered to the dogs are outlined in Table 2.\nFor the 2 patients in the non-treatment group, no objective outcomes were available because they did not return for follow-up with reference to the fibrotic myopathy diagnosis or treatment.\nRegarding the treatment outcomes, 2 out of the 8 patients were noted to have a softer muscle belly of the affected muscles after treatment with ECSWT. Others did not have noticeable change.\nStifle range of motion (ROM) improved or stayed within the normal range in 5 patients within 7 months from the initial measurements. One dog had decreased stifle extension within 7 months (Table 3). The other 2 patients did not have objective ROM measurements during initial evaluation or follow-up. One dog in the treatment group maintained improved stifle extension 18 months after the initial measurement (Table 3).\nThree out of the 4 patients who were measured had improved or maintained thigh girth within 4.5 months from the initial measurements. Out of those 3, one had regressed slightly at the 19-month recheck. The other patient initially declined in the thigh girth, and then improved (Table 3).\nThree dogs had improved subjective lameness evaluation (less kyphotic stance, or decreased lameness grade from II/IV to I/IV, or less pronounced pathognomonic gait). The other 5 dogs did not have specified gait/lameness change (Table 3).\nOn average, dogs who received ECSWT and RT were able to work full-time for an additional 32.1 months after the diagnosis of fibrotic myopathy (range 6-82; SD 23.6) (Table 3). Dog #8 was not included in this calculation because he is still actively working at full capacity (13 months since time of diagnosis).\nOn average, dogs who did not receive ECSWT or RT were able to work full-time for an additional 12.5 months (range 1-24; SD 11.5).\nOne of the 2 dogs in the non-treatment group was able to work full-time for 24 months with limitations (could not jump in and out of a car or climb stairs). The other dog retired soon after the diagnosis (within 1 month) because he was not able to jump into the patrol vehicle and this disqualified him from being able to work.\nNo activity limitation was reported for patients who received ECSWT and RT, except that one handler limited jumping due to concern for making the contralateral leg worse. Working duties of the dogs included explosive detection, patrol, and guiding for the blind.\nThe follow-up for this retrospective study was completed by either phone call or email, 9 months to 7 years after the last treatment. For the non-treatment group, follow-up for one was 2.5 years and the other 10 months after the last evaluation.\nStudy patients had other comorbidities listed in the medical record including intervertebral disk disease, osteoarthritis, hip pain, iliopsoas pain, tail pain, and hemangiosarcoma. Since we could not obtain the official deposition record, we could not confirm the exact reason for each dog's retirement.",
"gender": "Male"
}
] |
PMC10800511
|
[
{
"age": 57,
"case_id": "PMC10761405_01",
"case_text": "A 57-year-old woman visited community hospital due to experiencing chest tightness and chest pain for over a year. A chest computed tomography (CT) scan revealed aneurysmal dilation of the pulmonary artery. She had a history of tuberculosis over 20 years ago but stated that she had been successfully treated and cured. During the examination, the patient's blood pressure was measured at 110/70 mmHg, and her pulse rate was recorded at 73 beats per minute. She has a height of 155 cm and a weight of 45 kg. The computed tomography angiography (CTA) scan of the pulmonary arteries revealed significant aneurysmal dilation of the main pulmonary artery and the bifurcation lumen (about 5.6 cm at the wider part), which was considered to be a pulmonary aneurysm; the walls of the main pulmonary artery and its branches appeared smooth and continuous, with no apparent filling defect within the lumen (Figures 1A,B). The electrocardiogram (ECG) displayed a normal sinus rhythm. The echocardiogram reveals no abnormalities in the valves, and there are no abnormal in vivo or in vitro shunts present. Additionally, there is aneurysmal dilatation of the pulmonary arteries (Supplementary Figure S1). Right heart catheterization revealed a pulmonary artery pressure of 21/11/14 mmHg. Coronary angiography suggests no abnormality. Relevant preoperative routine blood tests are shown in Supplementary Table S1, which were mainly positive for Mycobacterium tuberculosis CD4+ T cells. We recommended surgical treatment of the pulmonary aneurysm. Intraoperatively, it was noted that the main pulmonary artery exhibited significant dilatation from 2 cm above its origin to the bifurcation of the right and left pulmonary arteries, with a maximum diameter of approximately 5.5 cm, and no palpable thrill was detected at the root, and there was a slight dilation observed in the left and right pulmonary arteries (Figure 1C). Cardiopulmonary bypass was initiated, and a sequential blockade of the superior vena cava and inferior vena cava, as well as the right and left pulmonary arteries, was implemented. After the aortic occlusion, cardiac arrest is induced by the infusion of a specialized cardiac arrest solution, effectively ceasing the heart's activity. Intraoperative probes reveal that the pulmonary arteries have thin walls without any signs of dissection or thrombosis. The pulmonary valve annulus is not dilated, and there is no significant regurgitation observed. The aneurysm of the main pulmonary artery was dissected longitudinally and replaced using an artificial blood vessel (24 mm in diameter), which was anastomosed to the proximal and distal ends of the main pulmonary artery, respectively, and the patient's own dilated portion of the pulmonary artery wall was partially excised. The artificial blood vessel was re-sutured and wrapped (Figure 1F). Postoperatively, the patient was returned to the intensive care unit. The patient was transferred to a regular ward on the second day after the surgery and was discharged smoothly one week postoperatively. The diseased vessel was excised and sent for routine pathological examination. Pathological findings showed thinning of the pulmonary artery wall with no other significant abnormalities (Supplementary Figure S2). Postoperative follow-up pulmonary artery CTA showed that the diameter of the main pulmonary artery returned to normal (Figures 1D,E). Anticoagulation with warfarin for 6 months. The patient came for a follow-up visit at the outpatient clinic 2 months later, reporting satisfactory recovery and no specific complaints of discomfort.",
"gender": "Female"
}
] |
PMC10761405
|
[
{
"age": 75,
"case_id": "PMC10481802_01",
"case_text": "A 75-year-old man with a history of hypertension, atrial fibrillation on apixaban, stage III chronic kidney disease, peripheral vascular disease, and prior Group B Streptococcal infective endocarditis with prior bioprosthetic valve replacement was admitted to the hospital with recurrent endocarditis and Group B Streptococcus bacteremia. His hospital course was further complicated by right-sided empyema requiring the placement of a chest tube. On hospital day 13, a stroke code was called for unresponsiveness with the last known well 20 min before stroke code activation. On evaluation, the patient was obtunded with forced left gaze deviation concerning for possible nonconvulsive status epilepticus (NCSE). He was intubated for airway protection and treated acutely with intravenous lorazepam and levetiracetam for possible NCSE. Noncontrast computerized tomography (CT) of the head revealed air within the right greater than left hemispheric cortical vessels with loss of sulcation, suggestive of ischemia due to cerebral air embolism (CAE) [Figure 1a]. CT angiography (CTA) of the head showed absent opacification of the distal cortical vessels in the right anterior cerebral artery and middle cerebral artery territories [Figure 1b]. The distal end of the patient's peripherally inserted central catheter (PICC) line, previously placed for antibiotic administration, was in the appropriate position on the scout CTA imaging [Figure 1c]. The patient was then transferred to the neurosciences intensive care unit for further care, placed in the Trendelenburg position, and continued on 100% fraction of inspired oxygen (FiO2) through mechanical ventilation. The PICC line was preemptively removed.\nSubsequent CT head at 24 hours (h) after the last known well-showed near-complete resolution of the air emboli after continued treatment with 100% FiO2, though there was the evident loss of sulcation in the right hemisphere [Figure 1d]. Magnetic resonance imaging (MRI) of the brain obtained 5.75 h from the last known well showed areas of subtle cortical diffusion restriction, but there was no evidence of definitive infarction [Figures 2a and b]. Electroencephalogram revealed mild-to-moderate generalized slowing and right hemispheric slowing with attenuation of faster frequencies; no seizures were noted. Repeat MRI obtained 4 days after the stroke code activation (hospital day 17) demonstrated cortical diffusion restriction in a gyriform pattern throughout multiple vascular territories without associated cerebral edema [Figures 2c and d]. On hospital day 18, the patient's neurological examination was notable for improved wakefulness, ability to follow commands, right gaze preference, left homonymous hemianopsia, left upper motor neuron facial droop, and left hemiplegia. His hospital course was further complicated by ventilator-associated pneumonia and prolonged intubation requiring placement of a tracheostomy and a percutaneous gastrostomy tube. He was ultimately discharged to a long-term acute care hospital on hospital day 89.\nRetrograde movement of air into the cortical veins resulting in venous infarction was the hypothesized mechanism of this patient's CAE. Although the PICC line was noted to be ipsilateral to the more affected hemisphere, this was confirmed to be in the correct position on CTA scout imaging during the patient's emergent evaluation and, thus, was not felt to be the source of air entry into the venous circulation [Figure 1c]. Beyond chest tube placement and removal, no surgical interventions had occurred before the CAE. A transthoracic echocardiogram was negative for a patent foramen ovale to suggest paradoxical air embolism through the arterial circulation as a possible mechanism. As such, the etiology of CAE in this patient remains cryptogenic.\nCAE is a rare cause of acute ischemic stroke that is becoming increasingly well-described in the literature. The cause of CAE is often iatrogenic and typically occurs during medical procedures or in association with medical devices, such as intravascular catheters. The presentation of CAE includes reduced or altered level of consciousness, focal neurological deficits, increased muscle tone, and/or seizures. Noncontrast CT of the head can reveal the presence of air in the sulci if obtained early. However, even in the absence of air on the CT head, a high degree of clinical suspicion is required for diagnosis, as intracerebral air is rapidly absorbed through arterioles; existing literature suggests that CAE can cause injury through two possible mechanisms: (1) local obstruction of blood flow by air emboli resulting in ischemic infarction or (2) or direct endothelial injury with resultant blood-brain barrier breakdown and in situ thrombus formation leading to ischemic infarction. With respect to imaging characteristics, multiple areas of restricted diffusion along the cortical gray matter in a gyriform pattern involving both cerebral hemispheres with significant cerebral edema are common MRI findings associated with CAE (venous more than arterial).\nAs there are no trials evaluating the treatment of CAE, management strategies are based on case reports and case series. Initial management of CAE involves identification and removal of potential sources of air entry, positioning the patient using the Durant's maneuver (left lateral decubitus and Trendelenburg position), high-flow oxygenation, and, if available, use of hyperbaric oxygen therapy. Although air embolism carries a high mortality rate of 21%, a recent retrospective study assessing CAE suggests that functional outcomes may vary, and patients tend to improve over time. Larger cohort studies are needed to assess functional outcomes, morbidity and mortality, and the effectiveness of interventions in patients with CAE.\nA unique feature of our case is the radiographic presentation of delayed cerebral ischemia with cerebral edema on MRI associated with CAE. Based on available radiographic data, the cerebral edema and ischemia appear to have developed sometime between the 5.75 h MRI and the 24 h CT head, though the size of the edema appears to have continued to increase between the 24 h imaging and the MRI completed 4 days later. The MRI findings of cortical diffusion restriction with cerebral edema that is out of proportion to the infarct burden suggest that the air emboli were likely in the venous circulation. The mechanism and severity of injury associated with CAE can vary, with ischemia typically emerging early.\nTo the best of our knowledge, delayed cerebral ischemia secondary to CAE has not yet been described. This has important implications for patient care, as affected patients may require more intensive neurocritical care and closer neuromonitoring than initially anticipated to optimize treatment after CAE. Although the cause of this patient's air emboli remains cryptogenic at this time, this case highlights that CAE can cause delayed ischemia that may not be appreciated on initial brain imaging.\nThe authors certify that they have obtained all appropriate patient consent.",
"gender": "Male"
}
] |
PMC10481802
|
[
{
"age": 72,
"case_id": "PMC10545457_01",
"case_text": "A 72-year-old man with ischemic heart disease and insignificant surgical history was admitted to Loghman Hakim Hospital due to progressive dysphagia to solid foods. His dysphagia started about three months ago. He had complaint of cervical stiffness with more intensity in the mornings and severe cervical pain. On physical examination, no stiffness or limitation in mobility was significant. His neurological examinations were also normal. Because of progressive dysphagia to solid foods, he underwent endoscopy. No abnormality was observed on endoscopy (Figure 1).\nDysphagia was evident in barium swallow test. Figure 2 illustrates the fluoroscopy.\nCervical X-ray and computed tomography (CT) scan were performed. A huge ossification in anterior longitudinal ligament was in C2 to C4 level where a compressed esophagus was observed. No ossification in posterior longitudinal ligament was observed (Figures 3 and 4).\nBecause of ischemic heart disease with high risk to surgery in cardiology consult, the patient was not candidate for osteophyte removal. Thus, conservative treatments and physiotherapy were considered for him. Nonsteroidal anti-inflammatory drugs (NSAID) and physiology were prescribed for him. He was followed up for 24 months until his symptoms remitted subjectively. In the follow-ups, his dysphagia was remitted.",
"gender": "Male"
}
] |
PMC10545457
|
[
{
"age": 24,
"case_id": "PMC11249449_01",
"case_text": "A 24-year-old Japanese woman visited our outpatient clinic with a 2-year history of an asymptomatic subcutaneous nodule on the abdomen. One week prior to her visit, the nodule developed a traumatic blister due to bruising (Fig. 1). The tumor was marginally, incompletely resected in a private surgery 3 months before her visit, and a pathologist histologically diagnosed it as epidermoid angiosarcoma. On her initial visit, a physical examination revealed only a surgical scar. In addition, there were no signs of local recurrence and distant metastasis of the tumor, using positron emission tomography-computed tomography and MRI. The specimen from the primary tumor revealed a predominantly necrotic lesion, with scattered active lesions composed of a massive proliferation of atypical clear, balloon-like cells (Fig. 2). Immunohistochemical staining showed that these balloon-like cells were positive for Wilms' tumor 1 (WT1) (Fig. 3a), CD99 (Fig. 3b), vimentin, BCL2, and p53 and negative for AE1/AE3, CK20, CD3, CD5, CD10, CD20, CD68, CD163, CD79a, TdT, MPO, TTF1, SALL4, CD31, CD34, D2-40, melan A, EMA, desmin, S-100, a-SMA, MyoD1, chromogranin A, synaptophysin, HHF35, and NKX3.1. No translocations of EWSR1 or FKHR were detected by fluorescence in situ hybridization. The assessment of genomic alterations using FoundationOne CDx detected the CIC-DUX4 fusion gene.\nBased on these findings, our diagnosis was CIC-DUX4 rearranged sarcoma presenting in the skin. The patient was treated with vincristine (2 mg/body on day 1), doxorubicin (37.5 mg/kg on days 1 and 2), cyclophosphamide (1,200 mg/kg on day 1), ifosfamide (1,800 mg/kg on days 15-19), and etoposide (100 mg/kg on days 15-19) in the neoadjuvant setting for 3 cycles, followed by vincristine, doxorubicin, cyclophosphamide, ifosfamide, and etoposide or VC-IE therapy for 4 cycles before undergoing radical resection. There was no recurrence 14 months after the completion of intensive therapy. The CARE Checklist has been completed by the authors for this case report, attached as online supplementary material (for all online suppl. material, see https://doi.org/10.1159/000539501).",
"gender": "Female"
}
] |
PMC11249449
|
[
{
"age": 54,
"case_id": "PMC11149435_01",
"case_text": "A 54-year-old female with a past medical history of hypertension, chronic obstructive pulmonary disease, asthma, ovarian and cervical cancer, heart murmur, and recent shingles infection presented to the emergency department with a severe bilateral rash over the scalp, face, and neck. One week prior to presentation, the patient arrived at the emergency department for evaluation of a blistering rash that presented in a dermatomal distribution on the left side of her face, chills, blurry vision in the left eye, and generalized paresthesia. At that time, the patient was diagnosed with shingles with overlying cellulitis, and promptly received treatment with valacyclovir and cefalexin. Fortunately, she did not require admission and was discharged from the emergency department. Following completion of the medication course, the patient returned with a diffuse rash on the scalp, face, ears, and neck. On examination, ill-defined eczematous lesions with crusting, minimal scaling, and some erosions were noted on the scalp, face, bilateral ears, neck, and the inframammary folds (Figure 1). The patient additionally exhibited watery discharge from bilateral eyes, accompanied by mild periorbital edema. Her antinuclear antibody, rheumatoid factor, and C-reactive protein were within normal limits. The erythrocyte sedimentation rate showed a slight elevation at 37 mm/h (normal range: 0-29 mm/h). HIV testing was negative. In addition, a wound culture was obtained, which tested positive for methicillin-resistant Staphylococcus aureus.\nThe differential diagnosis included dermatitis herpetiformis, eczema exacerbation with superimposed infection, and allergic contact dermatitis. The clinical and laboratory findings were most consistent with eczema exacerbation with superimposed bacterial infection. Comprehensive treatment was given, including a 7-day course of intravenous vancomycin for the bacterial infection, ciprofloxacin eye drops for ocular symptoms, topical hydrocortisone for the eczematous rash, and betamethasone lotion for scalp management. Furthermore, gabapentin was administered to alleviate the discomfort and pain associated with the rash. Overall, this approach of intravenous, topical, and oral medications yielded remarkable improvement, successfully ameliorating the rash, and alleviating the patient's distressing symptoms.",
"gender": "Female"
}
] |
PMC11149435
|
[
{
"age": 50,
"case_id": "PMC10506086_01",
"case_text": "A 50-year-old male with AIDS (CD4 12 cells/muL [4%]; HIV RNA 99,300 copies/mL), who had recently moved from Indiana to southern California, having been off ART for four years, presented to our emergency room with dyspnea, palpitations, and chest tightness. His past medical history was notable for polysubstance use disorder (methamphetamines, fentanyl injection drug use, tobacco), bipolar disorder, prior endocarditis, and houselessness.\nHis presentation was notable for supraventricular tachycardia with heart rates in the 250s requiring emergent cardioversion. After cardioversion, he was febrile (39.2C), slightly hypertensive (143/88 mmHg), tachycardic (heart rate 118), and tachypneic (respiratory rate 22), with normal oxygen saturation 99% on ambient air. Physical exam revealed oropharyngeal thrush, bilateral axillary and inguinal lymphadenopathy, and a non-focal neurological exam. Abnormal laboratory studies were notable for hemoglobin 8.6 gm/dL (13.7 - 17.5), sodium 125 mmol/L (136-145), bicarbonate 18 mmol/L (22-29), blood urea nitrogen 28 mg/dL (6-20), aspartate transferase 79 U/L (0-40), albumin 2.7 g/dL (3.5-5.2). A rapid COVID-19 / influenza nasopharyngeal PCR test was negative. Serum cryptococcal antigen was negative.\nChest x-ray showed extensive opacity of the right lung. He was started on broad-spectrum antimicrobials (vancomycin and piperacillin-tazobactam) in addition to fluconazole 200 mg daily for oral candidiasis. A computed tomography (CT) scan of the chest, abdomen, and pelvis two days later revealed miliary disease in the lungs (Fig. 1), a right upper lobe cavitary lesion, as well as multiple hypoattenuating lesions in the spleen. Blood cultures grew Streptococcus perioris and 1,3-beta-D-glucan was positive at > 500 pg/mL (normal <60). The fluconazole dose was increased to 400 mg daily given the imaging findings were likely indicative of disseminated fungal disease, and antimicrobials were narrowed to ceftriaxone 2g daily. He defervesced within four days of admission. Serial AFB sputum cultures and MTB PCRs were negative for M. tuberculosis. Eight days into admission, the sputum cultures grew Coccidioides immitis, and the patient was started on liposomal amphotericin B 5 mg/kg for disseminated coccidioidomycosis, in addition to ART with bictegravir / emtricitabine / tenofovir alafenamide plus doravirine. Coccidioides serology testing (IgM and IgG) was negative at this time, which was thought to be consistent with early infection.\nOn hospital day 13, the patient began having high-grade fevers and altered mental status, prompting further investigational studies to rule out nosocomial complications, persistent or worsening infection (including repeat blood and fungal blood cultures), additional opportunistic infections, as well as consideration of paradoxical IRIS related to his currently treated disseminated coccidioidomycosis. CSF analysis and MRI brain and spine were normal. Serum CMV PCR was 64 copies/mL with no evidence of CMV retinitis on the ophthalmologic exam. Serum HHV8 PCR was elevated at 23,400 copies/mL. Repeat serum cryptococcal antigen was negative. Admission blood cultures eventually grew Coccidoides immitis 17 days into admission, consistent with a high burden of disease and prompting further consideration of a diagnosis of paradoxical IRIS. We initiated dual antifungal therapy with the addition of fluconazole 800 mg daily. However, he continued to have fevers for an additional ten days, prompting initiation of methylprednisolone 30 mg/day for presumed paradoxical IRIS, which was further supported by a rise in CD4 to 46 cells/muL (13%) and decline in HIV VL to 316 copies/mL two weeks after ART initiation.\nFollowing the initiation of corticosteroids, the patient remained afebrile for six days, with one additional fever prompting a modification of the steroid taper (Fig. 2). His mental status improved ten days after starting steroids, and he was continued on a steroid taper for a total of 28 days. The patient was successfully discharged on hospital day 38, afebrile, with normal mentation. He was continued on fluconazole 800 mg daily for the remainder of his prednisone taper, in addition to ART and atovaquone for Pneumocystis jiroveci prophylaxis. We decreased the fluconazole dose to 400 mg PO daily after the patient completed his steroid taper (45 days after initiation of antifungal therapy) and plan to continue it indefinitely pending his clinical course. Of note, Coccidioides IgM was positive four weeks after diagnosis at hospital discharge, but IgG and complement fixation (CF) titer were negative. IgG and CF titer remained negative three months after diagnosis. The CF titer was 1:32 eight months after diagnosis.\nThe patient has been intermittently followed at our HIV primary care clinic for 1.5 years since hospital discharge and has been mostly adherent to ART and fluconazole. His most recent CD4 was 232 (13%) cells/muL and HIV VL 158 copies/mL.",
"gender": "Male"
}
] |
PMC10506086
|
[
{
"age": 20,
"case_id": "PMC11294937_01",
"case_text": "A 20-year-old man with a previously unremarkable medical history presented to the outpatient clinic with epigastric pain and 10 kg weight loss over the past 6 months. He also reported early satiety during meals, nausea without vomiting, and looser stools for a couple of months. The patient was an active smoker and had regular alcohol consumption, but denied illegal substance use. He worked as a logistic assistant in the shipping industry. He did not recently use NSAIDs or any maintenance medical treatment. Familial history included colorectal cancer (paternal grandfather, at the age of 60) and a perianal fistula (father). Vital parameters were normal, and physical examination showed no abdominal abnormalities. No pathological lymph nodes were palpable.\nInitial laboratory testing showed no anemia. White blood cell count was within normal range and there was mild thrombocytosis (394,000 10E3/muL). The serum electrolytes were within normal limits, except for mild hypomagnesemia (0.61 mmol/L, 0.70-1.05 mmol/L). There was mild elevation of aspartate aminotransferase (AST) (84 U/L; reference <37 U/L) and alanine aminotransferase (ALT) (92 U/L; reference <40 U/L) with no alterations in other liver function tests. IgE titer was remarkably elevated (758 kU/L; reference 0-100 kU/L). Fecal calprotectin was slightly elevated (130.9 mg/kg, reference <50 mg/kg).\nA few months earlier, the patient had already undergone an EGD for his complaints at a different center. This revealed a bumpy and erosive appearance of the gastric mucosa and bulboduodenal ulcerations with stenosing effect, causing gastric outlet subobstruction. The biopsies showed chronic active, HP-negative gastritis and bulbitis, in the absence of PPI intake. There were no signs of malignancy, and no granulomas were observed. Pantoprazole 40 mg BID was started.\nControl EGD after presentation at our center showed similar macroscopic findings despite PPI treatment: diffuse gastritis with gastric outlet stenosis due to large ulcers at the transition between pylorus and bulbus, which could only be passed with a nasogastric endoscope (diameter 5.4 millimeter) (Figure 1). Repeated extensive biopsy sampling confirmed persistent acute bulbitis and HP-negative, chronic active gastritis. Periodic acid-Schiff staining gave no arguments for Whipple's disease.\nAn abdominal computed tomography (CT), followed by additional investigations including ileocolonoscopy with ileal and colonic biopsies and a magnetic resonance (MR) enterography, did not show other locations of intestinal inflammation. An additional video capsule endoscopy to screen for more distal small bowel inflammation could not be performed because the capsule could not be advanced beyond the pyloric stenosis despite endoscopic maneuvers.\nScreening for Zollinger-Ellison (ZE) syndrome showed a mildly elevated serum gastrin level (339 ng/L) on PPI and 68Ga-DOTA-1-NaI3-octreotide (DOTANOC) positron emission tomography (PET)-CT showed no elevated somatostatin receptor expression. Endoscopic ultrasound (EUS) of the pancreas and MR enterography showed no arguments for a primary neuro-endocrine tumor. There were no histopathological arguments for autoimmune gastritis, and anti-intrinsic factor antibodies and anti-parietal cell antibodies were negative. Intestinal tuberculosis was excluded by a negative interferon-gamma release assay (i.e., QuantiFERON-TB) and normal X-ray of the thorax. Serum calcium and serum angiotensin-converting enzyme (ACE) levels were within normal limits, which made sarcoidosis less likely.\nAfter this profound work-up, the patient was referred to the IBD unit of our hospital for further investigation. In order to establish a diagnosis, a repeated EGD with biopsies showed erosions in the stomach with the known stenosis of the pylorus, a large ulcer at the transition from the pylorus to the bulbus and multiple punched-out ulcerations in the duodenum. The gastric biopsies now showed a few small non-caseating granulomas, suggestive of Crohn's disease (CD), since other causes of granulomatous gastritis (GG), i.e., sarcoidosis, malignancy, and infectious diseases such as tuberculosis or Whipple's disease, had already been thoroughly ruled out (Figure 1). In addition, because of persistent ulcerative gastritis with stenosis, despite high doses of PPI, immunoglobulin G4 (IgG4) staining was performed to rule out IgG4-related disease, and the number of IgG4-positive plasmocytes was found to be significantly elevated on both gastric and duodenal biopsies. In the corpus of the stomach, the number of IgG4-positive plasma cells was highest, with more than 50 IgG4-positive plasma cells per high power field (HPF) and an IgG4/IgG ratio above 40%. An elevated IgG4 was seen in serum (194 mg/dL, reference values 8-140 mg/dL). Based on these clinical, serological, radiological, and histopathological findings, the presumptive diagnosis of an overlap of gastroduodenal CD and IgG4 disease was performed, as granulomas are unlikely in IgG4-related disease. Initially, systemic steroids were refused by the patient. Budesonide (9 milligram/day) was started without any effect on the complaints. Consequentially, a methylprednisolone 32 mg/day tapering course was started, and because of the suspected upper gastrointestinal (UGI) CD, anti-tumor-necrosis factor alpha (anti-TNFalpha) treatment with adalimumab was initiated early in the disease course. This approach led to rapid symptomatic improvement.\nA control EGD (performed when the patient was still under CS) confirmed a clear endoscopic response with resolution of large ulcerations but still persistent diffuse gastroduodenitis with erosions. Because of the positive IgG4 staining, after a review of the literature, it was decided to switch adalimumab to infliximab in combination with azathioprine. After induction with Infliximab, EGD now showed an increased response, with only some residual erythema in the antrum and now a normal pyloric opening that could be passed with a gastric endoscope (diameter 9.9 millimeter). No abnormalities were visualized in the duodenal bulbus. However, active chronic inflammation with increased IgG4-positive plasma cells (>100 IgG4-positive plasma cells/HPF) remained present in the duodenal biopsies. Gastric biopsies showed inactive chronic gastritis with up to 14 IgG4-positive plasma cells/HPF. Control EGD 6 months after induction showed no macroscopic abnormalities, with only mild chronic and inactive antritis in the biopsies without granulomas (Picture 1). IgG4-plasmocyte count was also normalized (only 7/HPF in the duodenum and 2/HPF in the gastric biopsies).",
"gender": "Male"
}
] |
PMC11294937
|
[
{
"age": null,
"case_id": "PMC11033680_01",
"case_text": "A patient was treated with subdermal hypderdilute (1:3) CaHA-CMC in the jawline and midface with a cannula and presented 6 weeks posttreatment with bilateral noninflammatory nodules in the jowls that were not present prior to treatment and appeared around 48 h after the initial treatment, as visualized in her pre- and posttreatment photographs (Figure 2A, B). The patient could easily palpate the nodules, which were visible at rest, and they were approximated to be 0.4 to 0.5 mL in volume (Figure 2C). No edema, pain, redness, or heat accompanied the nodules. While not painful, the nodules negatively affected the aesthetics of the patient and accentuated her jowling. The patient opted for reversal of the nodules when presented with \"wait and watch\" or treatment options. Thus, 6 weeks after CaHA-CMC treatment, the patient was treated with FMV, was treated a second time with FMV 9 weeks after CaHA-CMC treatment, and reported resolution at 10 weeks post-CaHA-CMC treatment (Figure 3).\nDispersion alone has been shown to reduce the size of CaHA nodules by up to 30%, although it was hypothesized that the rapid neocollagenesis and tissue integration may inhibit complete resolution in stubborn nodules. Ablative technologies have also shown efficacy in mechanically disrupting nodules. We sought to draw from both the dispersion and FMV mechanisms of action.\nThus, this protocol deployed began by applying warm compress to the nodules with a heating pad for 5 min. Next, 0.9 mL of solution (0.7 mL saline, 0.2 mL lidocaine) was injected directly into the nodules with a needle, effectively creating an in situ dilution for the CaHA particles to disperse into. A mechanized microneedle (Dr Pen Ultima M8, Dr Pen, Phoenix, AZ) equipped with a sterile 36-pin cartridge was then applied directly over and around the nodules in 3 continuous rolling directions for 5 min per nodule at the highest speed setting (around 15,000 RPM) and at a depth of 1.0 mm.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC11033680_02",
"case_text": "Immediately after the first session of microneedling, the nodules were reduced by approximately 30%. Two and 7 days after the initial treatment, the nodules were reduced by approximately 50% and 70%, respectively (Figure 4A). A second session following the same protocol was carried out 3 weeks later with 80% resolution immediately after the second round of FMV and near full resolution 1 week later (Figure 4B). The patient has not had any recurrent nodules after the second nodule reversal treatment and did not report any complications related to the reversal protocol and only reported mild erythema persisting for around 2 h post-FMV. The 2-month delay between reversal protocols was due to the patient living out of state.",
"gender": "Unknown"
}
] |
PMC11033680
|
[
{
"age": 59,
"case_id": "PMC10835448_01",
"case_text": "A 59-year-old male patient weighing 64.7 kg, residing in Pune, Maharashtra, India and working as a teacher, sought the consultation of an Ayurvedic physician on September 2, 2021. The Ayurvedic examination of the patient revealed symptoms such as Parshuka Asthi Shool (pain in ribs), Dourbalya (fatigue), Hrulasa (nausea), Arasdnyata (ageusia), Malabaddhata (constipation), Chinta (mental stress), Bharkshya (weight loss of 8.5 kg in 3 months), Urodaha (burning sensation in the chest) and Udardaha (burning sensation in the abdomen). After the onset of symptoms in December 2020, the patient sought medical attention and received chemotherapy and steroid therapy from the oncophysician. The oncophysician advised a bone marrow transplant as a potential treatment option. However, the patient made a personal decision to pursue Ayurvedic treatment instead of proceeding with the recommended bone marrow transplant.\nFrom an Ayurvedic perspective, the patient's body constitution was determined to be Pittaj-vata; with Madhyam sattva (medium psychic state); The Agni (digestive power) was assessed as Manda (weak); Nadi (pulse) (indicated a vatapittaj (vitiation in vata-pitta) state and the tongue appeared coated (sama). The gastrointestinal tract (Koshtha) was determined to be krura (hard); The urine was observed to be as pale yellow, passed 5 to 7 times per day without any burning sensation. Factors contributing to the patient's condition involved imbalances in doshas Vata and Pitta, disturbances in the body tissues (Dhatu), including Rasa (Plasma), Rakta (blood), Meda (fat), Asthi (bone), Majja (bone marrow).The excretory products (mala) involved were mutra (urine) due to kidney failure and purish (stool) due to constipation; the patient exhibited a state of mental distress (mana vishanna). According to Ayurvedic diagnosis, the patient's condition was Asthimajjagat Vata.\nNo significant medical history\nIn July 2021, the patient was diagnosed with COVID-19 pneumonia, confirmed by a high-resolution computed tomography (HRCT) scan with a severity score of 6. Additionally, the patient had a history of hemorrhoids that were surgically treated in 2020.\nThe patient's daily regimen starts with arising at 6:30 a.m., followed by partaking in activities like morning stroll and shower. Between 8 a.m. and 8:30 a.m., the patient has breakfast options like Paratha, Shira or Upita accompanied by a serving of milk.The patient used to travel a daily distance of 50 km for school teaching activities. Lunch, which was typically consumed between 1 p.m. and 2 p.m., consisted of vegetarian dishes such as chapati, vegetable curry and salads. The patient used to include non-vegetarian meals in his diet three times a week. In the evening, he would have tea and snacks. Dinner was consumed at 8:30 p.m. and a light walk was taken before retiring to bed at 10:30 p.m.\nConsidering the pathophysiology and prognosis of the disease, following treatment plan was devised: Deepana (enhancing digestive fire), Pachana (improving digestion) and Snehana (oleation therapy). The prescribed majorly used medications included Panchtikta Ghruta Guggul, Hirak Rasayana, Kukutandatwak Bhasma, Yograj Rasayana, Panchatikta Kshira Basti (medicated milk enema) and Mustadi Yapana Basti (medicated enema).",
"gender": "Male"
}
] |
PMC10835448
|
[
{
"age": 63,
"case_id": "PMC10768626_01",
"case_text": "A 63 years old male presents to the emergency department with the chief complaint of left upper limb pain for 3 days which started with the sudden onset history of numbness of the left fingers which progressed into severe pain ascending to the left shoulder and left side of the neck. The pain was severe and radiating to the left side of the chest, shoulder and the back accompanied with headache episodes. The pain was sharp in nature and worsened by lying flat but improved by walking around. The pain was so severe that he could not sleep well for 3 days and it was not relieved by painkillers.\nThe patient denied history of difficulty in breathing, chest tightness, awareness of heart beat, headache, coughing, blurry vision, lower limb swelling but reported history of heartburns episodes which has been controlled by medication. The past medical history was unremarkable and the patient denied history of any recent trauma. On family and social history, the patient is a mason by occupation and has been attending indoor gyms for exercise including weight lifting 1 month prior to onset of the symptoms. On physical examination there was muscle tenderness on left side of chest and left arm with reduced reflexes in the lower limbs. On admission, the patient had the following vitals; blood pressure of 187/117 mmHg, temperature-36.8 C, pulse rate-133 bpm, respiratory rate 28 bpm, SPO2-97%. Neither diclofenac, pethidine, tramadol, meloxicam, morphine, pregabalin nor their combination was able to relieve the pain.\nSeveral investigations were done to rule out some differentials including myocardial infarction and adhesive capsulitis. On laboratory tests, full blood picture and serial troponins were within normal range except for D-dimer which was slightly elevated with significantly elevated HbA1C of 13%. On electrolytes, both potassium and sodium were within the normal range except for calcium which was slightly low. Among the imaging, serial ECG tests showed mild ST elevation in lead V2 and V3. Both chest, left shoulder and cervical spine X-rays were normal.\nThe patient was admitted and initiated empirically on peptic ulcers and myocardial infarction (MI) treatment with no improvement of the pain symptoms. The treatment of MI was stopped later on after the CT Coronary Angiogram showed normal findings. Moreover, anti-hypertensive and anti-hyperglycemic drugs were initiated and closely monitored.\nGiven the refractory pain experience which was not relieved by medications and 2 days' post admission development of some episodes of twitching on the left hand few minutes after holding an object like when reading a book, local examination of the left upper limb was repeated on the sixth day of admission and it was found with elicited tenderness radiating to the left side of the neck, chest and back when compressing the middle finger only and the C7 dermatome areas. The diagnosis of inflammatory C7 cervical radiculopathy was made. Cervical spine MRI revealed normal findings. The patient was initiated on prednisolone tabs, 60 mg per oral once a day for 7 days. The symptoms improved significantly the next day with improved night sleep and stable vitals. The patient was discharged home with the appointment after 2 weeks for follow-up and was counseled on proper diabetic and hypertensive management.",
"gender": "Male"
}
] |
PMC10768626
|
[
{
"age": 17,
"case_id": "PMC10829856_01",
"case_text": "A 17-year-old female patient presented to the Emergency Department (ED) with bloody stools and was found to have a critical hemoglobin of 3.1 g/dL. She reported a long history of chronic intermittent blood in her stools, and had previously undergone a negative work-up, including a negative colonoscopy, esophagogastroduodenoscopy (EGD), and Meckel's scan at the age of three. The patient reported having worsening abdominal pain, vomiting, and multiple daily episodes of loose, bloody stools, along with a weight loss of 20 lbs. in the six months prior to her ED presentation. Her medications included a proton pump inhibitor and H2-blocker, which were started about one month before presentation, and a selective serotonin receptor inhibitor, which had been started about one week earlier. She was admitted to the hospital and received multiple packed red blood cell transfusions, which improved her hemoglobin to 7.3 g/dL, as well as iron dextran infusion. An abdominal X-ray showed moderate stool burden. The EGD and colonoscopy revealed gastritis and increased vascular markings in the sigmoid colon. A cutaneous lesion with bluish discoloration was found on the right buttock, raising concerns for a possible hemangioma. A Computed Tomography (CT) angiography of the abdomen and pelvis with delayed imaging was completed and showed no obvious abnormalities. The patient was then discharged home.\nMultiple outpatient complete blood count tests were conducted, indicating an initial normalization of hemoglobin levels. Following this, she underwent a capsule endoscopy study and magnetic resonance imaging (MRI) of the abdomen and pelvis. However, these investigations did not identify a definitive source of bleeding, but raised concerns about the presence of hemangiomas in the right-sided and sigmoid colon. About four months later, the patient was readmitted to the hospital after she was found to have hemoglobin of 4.7 g/dL. A diagnostic laparotomy was performed, confirming the presence of a sigmoid hemangioma, as verified by histopathological examination (Figure 1). She subsequently underwent an elective, robotically assisted low anterior resection with splenic flexure mobilization, which was completed without complications.",
"gender": "Female"
}
] |
PMC10829856
|
[
{
"age": 49,
"case_id": "PMC10601834_01",
"case_text": "A 49-year-old patient consulted a local doctor due to pain in her right breast. She had previously undergone preoperative chemotherapy (paclitaxel and trastuzumab), a partial mastectomy, fat valve revision, conservative breast irradiation, postoperative chemotherapy (epirubicin and cyclophosphamide), and treatment with tamoxifen citrate at 33 years old for right breast cancer.\nUpon examination at our hospital, we palpated a hard, poorly mobile, painful mass in the right C region. Positron emission tomography scanning showed significant accumulation of a 4.9-cm mass in the right CD region and an enlarged left axillary lymph node. A biopsy of the left axillary lymph node was performed, and a diagnosis of invasive ductal carcinoma was made. The diagnosis was T4aN3cM1, stage IV (nuclear grade 3, ER <1%, PgR <1%, HER2 score 2, Ki67 80%, MSI negative, PD-L1/SP142 positive, BRCA2 mutation positive 6415del).\nA treatment regimen of atezolizumab (840 mg/body, days 1 and 15) and Nab-PTX (100 mg/m2, days 1, 8, and 15) every 4 weeks was prescribed. After a total of 6 courses, the right primary tumor was enlarged (24-35 mm) and the bilateral axillary lymph nodes were reduced. A right mastectomy was performed and histopathology showed recurrent breast cancer (pT4a, 2.5 cm, NG3, ly3, v1, grade 1b). Postoperative complications included delayed wound healing that required 4 months of chemotherapy withdrawal.\nComputed tomography showed an enlarged left axillary lymph node, so a seventh course of Nab-PTX and atezolizumab treatment was started (Table 1). Nineteen months after the start of this round of Nab-PTX and atezolizumab treatment, the patient reported vision loss in her left eye and visited an ophthalmologist. Her visual acuity was 0.03 on the right and 0.05 on the left. Optical coherence tomography (OCT) confirmed bilateral edema in the macula (Fig. 1a, b). Based on the above, the patient was diagnosed with bilateral CME and she received an injection of triamcinolone in her Tenon sac. There was a lack of improvement in the patient's CME with this injection. Therefore, in collaboration with our hospital and ophthalmologist, treatment with Nab-PTX and atezolizumab were ceased 20 months after the start of chemotherapy. Two months later, the patient's visual symptoms had improved (right 0.06; left 0.08), as did the bilateral CME as observed on OCT (Fig. 1c, d). She was then scheduled to begin treatment with olaparib (600 mg per day).",
"gender": "Female"
}
] |
PMC10601834
|
[
{
"age": 52,
"case_id": "PMC10876679_01",
"case_text": "Case 1: A 52-year-old female patient with history of asthma, hypertension, dyslipidemia and fibromyalgia presented for severe dyspnea and respiratory failure. On physical examination: blood pressure was 150/80 mmHg, heart rate 90 beats/min, temperature 37.5 C and arterial oxygen saturation 94% on 10L/min of oxygen by facemask. She had bilateral wheezing and tachypnea. Her blood tests upon admission showed leucopenia (WBC = 2.39 x 10^9 per L), thrombocytopenia (platelets = 136 x 10^9 per L) and elevated CRP (28.8 mg/dL). Her electrolytes, creatinine and liver function tests were within normal limits. HIV serology and autoimmune workup (including P-ANCA, C-ANCA, ANA, rheumatoid factor and anti-CCP antibodies) were done due to recurrent asthma exacerbation and were negative. She was diagnosed with influenza pneumonia with superimposed bacterial infection and asthma exacerbation and was started on Oseltamivir, Levofloxacin, Albuterol/Ipravent and intravenous methylpredisolone. Her stay was complicated by severe dyspnea with respiratory failure requiring transfer to the intensive care unit (ICU).\nCT chest showed bilateral lung consolidations in the posterior segments of the lower lobes associated with nodular and tree in bud infiltrates. Aspergillosis was suspected and bronchoscopy was done showing ulceration of the trachea with pseudomembrane and diffuse inflammation (Fig. 1, Fig. 2). Biopsy was taken showing branching septated hyphae compatible with Aspergillus hyphae (Fig. 3). She was treated empirically with Voriconazole, and the treatment was continued after diagnosis confirmation by biopsy. However due to limited improvement, Anidulafungin was added to Voriconazole to continue double fungal coverage for 3 weeks. The patient improved with resolution of symptoms and thrombocytopenia and normalization of inflammatory markers and was discharged on oral Voriconazole for 6 additional months.",
"gender": "Female"
},
{
"age": 41,
"case_id": "PMC10876679_02",
"case_text": "Case 2: A 41-year-old male patient presented to the emergency department for dyspnea of 5 days duration associated with fever, productive cough, desaturation and diarrhea. No past medical or surgical history was reported. Patient was a heavy smoker (>80 pack-year). On physical examination: blood pressure was 140/70 mmHg, heart rate 124 beats/min, temperature 36.7 C and arterial oxygen saturation 75% on 10L/min of oxygen by facemask. The patient was in severe respiratory distress with bilateral decrease in breath sounds and bilateral wheezing. Abdominal breathing was noted. Intubation was done urgently for mixed hypercapnic and hypoxic respiratory failure and the patient was admitted to the ICU.\nHis blood tests upon admission showed leukocytosis (WBC = 27 x 10^9 per L) with elevated procalcitonin (0.665 ng/ml) and CRP (27.3 mg/dL). Other labs including HIV serology were normal. Chest x-ray showed bilateral lung infiltrates compatible with viral pneumonia. Chest CT scan showed diffuse bilateral patchy and tree in bud infiltrates (Fig. 4). Urgent bronchoscopy was done and bronchoalveolar lavage (BAL) cultures were taken. Patient was started on Oseltamivir and broad-spectrum antibiotics (Levofloxacin, Ceftriaxone and Vancomycin) for coverage of superimposed bacterial infection on top of suspected influenza pneumonia (influenza polymerase chain reaction (PCR) was not done). Intravenous methylprednisolone was needed in the setting of severe COPD exacerbation with bronchospasm.\nBAL and sputum culture showed Aspergillus infection and Voriconazole was started. Patient developed severe septic shock refractory to increasing norepinephrine dose. Severe mixed respiratory and metabolic acidosis refractory to bicarbonates administration and increasing minute ventilation was noted on arterial blood gases. Chest x-ray showed bilateral opacities with normal cardiac ultrasound and increasing oxygen requirement compatible with acute respiratory distress syndrome (ARDS). Patient passed away due to persistent hypoxia despite maximal ventilatory support.",
"gender": "Male"
},
{
"age": 67,
"case_id": "PMC10876679_03",
"case_text": "Case 3: A 67-year-old male patient previously healthy presented to the clinic for recurrent dyspnea on minimal exertion, desaturation and productive cough 1 week post severe COVID-19 pneumonia being treated with oral prednisone for fibrotic lung changes post COVID-19 pneumonia. On physical examination: blood pressure was 120/70 mmHg, heart rate 75 beats/min, temperature 36.2 C and arterial oxygen saturation 87% on room air. CT chest showed a tree in bud opacity with a 22 mm cavitary mass like consolidation in the right upper lobe suspicious of tuberculosis or fungal infection. Tuberculin skin test and acid-fast bacilli smear were negative. Bronchoscopy was done in outpatient setting and BAL showed Aspergillus infection which was treated successfully with Voriconazole. CT chest repeated after 3 and 5 months confirmed clearance of the infection with shrinkage of the cavitary mass. Bronchoscopy was repeated after the second CT chest and confirmed clearance of Aspergillus infection.",
"gender": "Male"
},
{
"age": 80,
"case_id": "PMC10876679_04",
"case_text": "Case 4: An 80-year-old male patient with history of heart failure with preserved ejection fraction and limited activity (ambulate with assistance) presented to the clinic with severe dyspnea and desaturation 3 weeks post COVID-19 pneumonia. On physical examination: blood pressure was 130/70 mmHg, heart rate 88 beats/min, temperature 37.3 C and arterial oxygen saturation 86% on room air. CT chest showed large cavity in the right upper lobe (Fig. 5). BAL showed Aspergillus infection and positive galactomannan level. He was treated successfully with voriconazole and was discharged home but was lost to follow up.",
"gender": "Male"
}
] |
PMC10876679
|
[
{
"age": 40,
"case_id": "PMC10481988_01",
"case_text": "A 40-year-old woman was referred with a constantly and rapidly growing right upper eyelid lesion for 1 year. She had undergone an incisional biopsy in another clinic before referral and the histopathological evaluation of the lesion revealed PTCL-NOS. It was learned that she was living in a rural area of Somali and had not been previously treated for the eyelid lesion. At presentation, on external examination, a giant hemorrhagic tumor spreading from the periocular region to the nose, cheek, and forehead region was observed [Figure 1a]. Her medical and ocular history was unremarkable otherwise. Histopathologic assessment of a bone marrow trephine biopsy showed no evidence of lymphomatous infiltration. Systemic lymph nodes were not palpable, and there was no swelling of the liver or spleen. Computed tomography of the orbit revealed a heterogeneous soft-tissue mass with irregular borders in the left hemifacial region, starting from the frontal region, invading the left orbital fossa, and extending to the maxilla [Figure 1b]. Positron emission tomography revealed pathological F-18 fluorodeoxyglucose (FDG) uptake in the left frontal region, diffuse cutaneous and many lymphatic regions on both sides of the diaphragm, and increased F-18 FDG uptake in the soft-tissue mass. Following three cycles of CHOEP (cyclophosphamide, doxorubicin, vincristine, etoposide, and prednisone) chemotherapy, the mass regressed significantly. Widespread yellow-brown crusts and purulent discharge between the crusts were observed in the area where the tumor regressed [Figure 2a]. At this point, it was decided to perform exploratory surgery. First, a swab culture was sent from the purulent discharge for microbiological examination. Then, the crusts were cleaned, and the underlying fibrotic tissues were excised and sent for histopathological evaluation. The eyelid margin with eyelashes was observed in a very small area laterally [Figure 2b]. Surgical dissection was continued from that area, and the upper and lower lid margins were separated from each other [Figure 2c]. The ocular surface was healthy and the fornices were normal. The wound was dressed with antibiotic ointment-soaked gauze and left for secondary intention healing. On slit-lamp examination, superficial corneal vascularization of the inferior cornea was observed in the left eye and no intraocular involvement with lymphoma was detected in either eye on fundus examination. Histopathological examination was negative for tumor and the pus culture grew Pseudomonas aeruginosa. Intravenous ceftazidime-imipenem treatment was started. Since the patient was maintained on systemic chemotherapy and had neutropenic periods, the eyelids were followed up closely for secondary intention healing. On postoperative week 8, cicatricial ectropion caused by secondary wound healing of the lower eyelid became more pronounced and caused lagophthalmos [Figure 3a]. At this stage, the patient underwent orbital magnetic resonance imaging and it was found that the tumor in the orbit had completely disappeared. Lower lid cicatricial ectropion repair with a skin graft from the retroauricular region was performed. The lower lid position was satisfactory on postoperative month 2 [Figure 3b]. The prognosis was satisfactory without recurrence 6 months after the initial examination. The patient later died due to disseminated disease.",
"gender": "Female"
}
] |
PMC10481988
|
[
{
"age": 47,
"case_id": "PMC10916495_01",
"case_text": "The reported patient is a 47-year-old woman who came to the hospital's emergency department complaining of shortness of breath. Her shortness of breath began 2 months ago at the intensity level of modified medical research council (mMRC) I and escalated to mMRC II 2 week before her visit, and it was not accompanied by cough and sputum. In the physical examination, her blood pressure was 120/80 mmHg, pulse rate was 88 beats/min, respiratory rate was 18 min, body temperature was 36.8 C, and oxygen saturation was 96%. Auscultation of the lungs was clear. She did not mention the history of other diseases or smoking. In the family history, her parents were not related, and she also mentioned the history of the same respiratory symptoms in her siblings. Out of 2 brothers and one sister, 2 of her brothers were diagnosed with PAM in their forties. One exhibited respiratory symptoms and radiologic findings, while the other only showed radiographic evidence. Her mother had no respiratory symptoms or radiologic findings, but her father died young in a car accident, and no lung evaluation was done on him. The patient was admitted for additional medical examination. Laboratory tests were normal, including calcium and phosphorus serum concentration, liver and parathyroid function, and arterial blood gas (ABG) measurement. Additionally, the tuberculin skin test was normal. High-resolution computed tomography (HRCT) showed multiple bilateral diffuse ground-glass opacities, interlobar fissure calcification, and subpleural linear calcifications with greater intensity in the lower regions of the lungs. Also, blurred borders of the heart and diaphragm were evident (Figure 1).\nAlso, there were no pathologic findings in the patient's echocardiography. Based on the appearance of HRCT and mild clinical symptoms, the patient was diagnosed with PAM. She was treated with Dexamethasone ampule 4 mg stat, Fluticasone inhaler 250 mg 2 puff twice a day, and other conservative treatments. After spending 2 days in the hospital, her respiratory symptoms improved to some extent, and she was allowed to go home with a prescription for Fluticasone inhaler, 250 mg, 2 puffs, twice a day. She also received instructions to follow a low phosphate diet and was informed about the disease and its possible complications. She was advised to visit the pulmonology clinic every 3 months for follow-up and to seek medical attention immediately in case of severe complications. Her 2 daughters also underwent chest radiography screening for early diagnosis of PAM, but the results were normal.",
"gender": "Female"
}
] |
PMC10916495
|
[
{
"age": 56,
"case_id": "PMC11183279_01",
"case_text": "At the beginning of 2021, a 56-year-old Chinese woman who complained of recurrent vaginal bleeding for one week visited our hospital. The patient had previously undergone thymectomy due to myasthenia gravis combined with type B2 thymoma, and she had no history of diabetes, AIDS, tuberculosis, etc. Gynecological examination of the patient at the time of treatment revealed that the 5 * 5 cm cauliflower-like mass on the anterior lip of the cervix involved the vault and easily bled when touched. A gynecologic ultrasound revealed that the cervix was enlarged with solid tumor formation. The outpatient department was highly suspicious of a cervical malignant tumor, so further colposcopy (Figure 1A) and tissue biopsy were performed. Colposcopy revealed that the cervical surface showed cauliflower-like changes, involving the upper 1/3 of the posterior vaginal wall, the upper 1/3 of the left vaginal wall, the front segment of the right vaginal wall, and the front 1/2 of the vaginal wall. No obvious white epithelium was observed, and the iodine test was negative. The microscope showed that a large number of macrophages (tissue cells) aggregated, and concentric and refractive small bodies, called MG bodies, were seen between tissue cells. They can be seen inside or outside the cytoplasm of macrophages (tissue cells) and are characteristic for diagnosing soft spot disease. Immunohistochemical staining for CD68 and CD163 was used to identify tissue cells, while D-PAS and PAS were used to visualize MG bodies. The discovery of Escherichia coli in bacterial culture can aid in the diagnosis of soft spot disease. Antibiotics be combined with surgical hysterectomy based on the results of drug sensitivity tests. Due to religious beliefs, the patient refused uterine removal, so she was given 0.2 g intravenous amikacin once a day according to the drug sensitivity test. After one month of treatment, the vaginal bleeding of the patient stopped, the colposcopy mass was smaller than before, and the focus was limited to the cervical surface in the second month (Figure 1B). At the end of 2022, after the patient was infected with COVID-19 and had mild COVID-19 pneumonia, vaginal bleeding occurred again. Pelvic magnetic resonance imaging (MRI) revealed a large cervical space occupying the protrusion into the vagina; this space was thought to be a result of malacoplakia, although cervical malignancies were not excluded (Figure 2). After communicating with the patient, the patient asked to keep their uterus, and after signing the informed consent form, cervical lesion resection + vaginal wall lesion resection was performed. Microscopy revealed a diffuse inflammatory lesion with a large number of tissue cell clusters (Figure 3A, 100X). In the background of tissue cells, there were varying numbers of plasma cells and lymphocytes, and there may have been bleeding and a small amount of neutrophils (Figure 3B, 100X). Characteristic soft spot bodies (Michaelis Gutmann bodies, MG bodies) were also observed inside and outside the tissue cells. Soft spot bodies were round or oval in shape, with clear boundaries, refractive, alkaline homogeneous shapes, or ring-like structures resembling \"owl's eyes\" (Figure 3C, 400X). MG bodies are formed by incomplete degradation of bacterial calcification. Immunohistochemistry revealed CD68- and CD163-positive tissue cells (Figures 3D, E, 200X), while PAS staining revealed purplish red soft macular bodies (Figure 3F, 400X). After surgery, the method of antibiotic administration was changed, and tobramycin/dexamethasone eye ointment + 0.2 g amikacin were mixed with local vaginal lavage. More than one year after surgery, the disease is well controlled, and there has been no recurrence.",
"gender": "Female"
}
] |
PMC11183279
|
[
{
"age": 7,
"case_id": "PMC10471426_01",
"case_text": "A 7-year-old boy, weighing 21 kg, was referred to our outpatient clinic for a permanent soft swelling on the right lateral region of the neck, with no history of trauma, previous surgery, or other significant signs and symptoms ( Fig. 1 ). The mass was noticed by the parents about 4 years before the consult; however, no investigation was performed in agreement with the pediatrician. The swelling was 4 x 3 cm in size, located beneath the anterior margin of the right sternocleidomastoid muscle. It was soft and compressible, and painless with no bruit or pulsation. It became more evident under straining and was triggered by the Valsalva maneuver. \n Neck US showed, at rest, right internal jugular axial 16 x 11 mm ectasia increasing to 22 x 27 mm during the Valsalva maneuver ( Fig. 2 ). The vein was detectable along its entire course, patent with regular blood flow and no thrombosis. It presented normal endoluminal valves. The contralateral internal jugular vein was normal in size and course. No other neck abnormalities were detected. Neck-thorax contrast CT scan confirmed a fusiform dilatation of the right internal jugular vein (about 22 x 17 mm at rest; Fig. 2 ), without endoluminal filling defects compatible with thrombus along its entire course. Moreover, it showed a symmetry of the subclavian veins and no arterial tortuosity or other cardiovascular anomalies. \nDue to the lack of symptoms, we decided to treat the patients conservatively. At 5 years of follow-up, the patient is still asymptomatic, with no evidence of complications or thrombosis.",
"gender": "Male"
}
] |
PMC10471426
|
[
{
"age": 73,
"case_id": "PMC11245978_01",
"case_text": "A 73-year-old afebrile man first presented to our hospital with exertional dyspnea for the past 3 months. He had no relevant medical history, including respiratory, allergic, or skin diseases. On examination, his vital signs and physical findings were unremarkable. Chest radiography and computed tomography revealed left-sided pleural effusion (Fig. 1). Table 1 shows the findings of blood tests and pleural-effusion characteristics at the time of the initial examination. The peripheral blood eosinophil count was increased, and nonspecific immunoglobulin E (IgE) levels were elevated; however, the C-reactive protein level was not elevated. The pleural effusion was exudative with a predominance of eosinophils and lymphocytes. No pathogens or malignant cells were detected in the pleural fluid. For the next 4 months, the pleural effusion continued to increase, requiring drainage of approximately 1 L of fluid every 2 weeks. Multiple pleural-fluid tests were performed during the course of the disease; however, no findings other than exudative EPE were observed. Since the cause of the EPE was unknown, no systemic treatment including steroids, antimicrobials, or antiparasitic drugs was administered.\nThoracoscopy performed to determine the cause of effusion revealed a multifocal pleural effusion consisting of septa and thickened mural pleura in the left thoracic cavity (Fig. 2). Therefore, intrapleural lavage and curettage were performed, with no complications or worsening of the patient's condition. Gram staining of pleural specimens and pleural fluid revealed gram-positive cocci; therefore, the patient was treated with vancomycin (750 mg every 12 h) intravenously from postoperative day 1, which was 4 months after the initial visit. After initiating the antimicrobial therapy, the peripheral blood eosinophil count reduced to the normal range (Fig. 3). The collected pleural specimen and effusion were cultured on sheep blood agar [Try/Soy Blood Agar (Sheep) No.2, Kyokuto Pharmaceutical Industrial, Tokyo, Japan]. The cultured colonies were identified as Staphylococcus epidermidis using the automated identification ID/AST MicroScan WalkAway Microbiology System (DxM 1096; Beckman Coulter, Sacramento, CA, USA) with gram-positive panel (Pos Combo 16; Beckman Coulter). Based on the drug sensitivity for the detected Staphylococcus epidermidis, after 1 week of vancomycin treatment, the antimicrobial agents were switched to oral minocycline (100 mg every 12 h). After completion of the antimicrobial therapy for a total of 2 months, no increase in the peripheral blood eosinophil count or recurrence of pleural effusion was observed (Fig. 4). No systemic treatment other than antimicrobials was administered after the patient's initial visit.",
"gender": "Male"
}
] |
PMC11245978
|
[
{
"age": 44,
"case_id": "PMC11002323_01",
"case_text": "In April 2023, a 44-year-old woman experienced abdominal pain for 9 days and complained of worsening of her symptoms over 3 days. She had initially presented with similar abdominal pain a year prior; however, the patient was afraid to seek timely medical attention due to the COVID-19 pandemic. The patient had no relevant medical history except for one uneventful caesarean section delivery, and there was no family history of uterine fibroids. The gynecological examination showed that the patient had a 16-week- uterus, and fullness was felt in the bilateral adnexal region.\nUpon admission, transvaginal ultrasound revealed a large pelvic mass ~15 x 12 x 10 cm in size, suggesting the presence of large uterine fibroids; moreover, there was no obvious uterine echo, the boundary was not clear, and the shape was regular. There were no significant changes in the bilateral ovaries (Fig. 1A). A computed tomography (CT) scan of the whole abdomen revealed a large soft tissue mass in the lower abdomen and pelvic cavity 100 x 170 mm in size with uneven density, strip calcification foci and flake low-density shadows that were connected to the uterus below (Fig. 1B). Pelvic magnetic resonance imaging (MRI) revealed a large pelvic mass with a size of 178 x 94 mm, which was considered to have originated from the uterus. There was a high possibility of myoma with malignant sarcomatous degeneration. A cystic lesion in the right adnexal area with a size of 22 x 18 mm was found (Fig. 1C). Tumor markers levels (AFP, CEA, CA199, CA125, CA153, and ferritin) were not elevated in the patient before surgery.\nAfter counselling, the patient first underwent total abdominal hysterectomy and bilateral salpingectomy with preservation of both ovaries to prevent the effects of estrogen loss. During the operation, the uterus was as large as it was at 6 months of gestation and was covered with wadded cotton, additionally the surface was uneven, and the boundary was irregular. The bladder was dense and attached to the lower anterior wall of the uterus, the left tubal root was thickened and sausage-shaped, with a size of ~15 x 6 cm; the right tubal root was also thickened, with a size of ~3 x 4 cm. A mass resembling a cluster of grapes was found in both fallopian tubes. A purple-blue cystic mass with a diameter of ~4 cm was found in the right ovary with a smooth surface. A cord-like mass was found around the left ovary extending into the suspended ligament of the left ovary, and the cord-like mass was palpable in the thickened suspended ligament of the ovary on both sides. The mass ran along the blood vessels, and the blood vessels were obviously dilated.\nIntraoperative frozen sections were reviewed, and a diagnosis of intravascular leiomyoma (IVL) was given. During macroscopic pathologic examination, the cut surface of the uterus showed ill-defined intramural nodules in the tumor (Fig. 2A). Bilateral oophorectomy and pelvic mass resection were performed intraoperatively after the patient's family was informed of the disease. No abnormalities were found on chest CT or echocardiography after the operation. The patient achieved a favor postsurgical recovery and was discharged after 7 days of hospitalization.\nUnder the microscope, the interwall tubercles of the uterus were observed to be composed of normal smooth muscle cells. These cells were benign, and showed no atypia or mitotic activity. The absence of morphologic features of malignancy was also noted. The tumor that was found in the irregular space of the uterine wall also invaded the lumen of the uterine vein. Foci of neoplastic leiomyomatous tissue sometimes entirely filled the lumens of the preexisting veins. Smooth muscle tissue could also be observed in the fallopian tubes and ovarian veins (Fig. 2B).\nOn immunohistochemistry, the tumor cells exhibited strong staining for calponin and smooth muscle actin (Figure 3A, B). CD31 and factor VIII-related antigen staining highlighted the endothelial cells of the blood vessels surrounding the foci of the leiomyoma that was intravascularly growing (Figure 3C, D). D2-40 and CD10 staining were negative. In other foci, the lesions were histologically identical to the intrauterine nodules. Immunohistochemical evaluation revealed that the area of the tumor that had developed intravascularly was positive for estrogen receptor and progesterone receptor (Figure 3E, F).",
"gender": "Female"
}
] |
PMC11002323
|
[
{
"age": 5,
"case_id": "PMC10981369_01",
"case_text": "We present the case of a 5-year-old female patient residing in Addis Ababa, Ethiopia, diagnosed with Potocki-Lupski syndrome (PTLS). The diagnosis was made by molecular genetic test which showed duplication in the 17p11.2 region.\nShe was born to non-consanguineous parents presented with delay in developmental mile stones and dimorphic facial features since birth. She has also history of myoclonic type of seizure since the age of four years.\nDuring Physical examination, she displayed unique facial characteristics, including a triangular face, a broad forehead, dental malocclusion, micrognathia and bilateral enlargement of the tonsils. Additionally, hypotonic extremities were observed. (Figure 1)\nHearing and vision showed no clinically apparent deficit. Genetic testing revealed duplication of 17p11.2 region. Following diagnosis, she received treatment with a single antiepileptic medication, effectively controlling her seizures. Additionally, she commenced physiotherapy and speech therapy to address her developmental needs. The parents received counseling and genetic guidance as part of the comprehensive management plan.",
"gender": "Female"
}
] |
PMC10981369
|
[
{
"age": 6,
"case_id": "PMC11180752_01",
"case_text": "The clinical course of our case is shown in Figure 1 . A 6-year-old female patient, weighing 13 kg, presented with a fever of 38.6 C in November 2014. The initial examination revealed no palpable liver or spleen enlargement. The relevant examination results showed EBV-DNA positive and mild anemia. After accepting antiviral drugs (foscarnet sodium and sodium chloride, 40mg/Kg/d, d1-d14), steroid (dexamethasone, 10mg/M2, 7.5mg/m2, according to the HLH-2004 protocol) and gamma globulin (human immunoglobulin (pH4) for intravenous injection, 5g/d, 1/10d). Subsequently, the patient's condition improved. However, in February 2015, she experienced a recurrence of fever, now with splenomegaly and moderate anemia, and a new finding of thrombocytopenia with platelet counts oscillating between 60 and 70 x 109/L. Despite persistent EBV-DNA positivity and normal bone marrow cell morphology, a definitive diagnosis remained elusive. After receiving steroid treatment the spleen shrunk and the results of blood routine test returned to normal. When the fever recurred in December 2015, the physical examination still showed splenomegaly (located at the sub-umbilical level), and the blood routine test showed a moderate anemia (60~80g/L) and a thrombocytopenia (30~70 x 109/L), with continuously positive EBV-DNA. The bone marrow cell morphology was still normal. Ferritin, triglycerides and fibrinogen were all within the normal range. Considering the possibility of hemophagocytic syndrome, the patient's condition improved after receiving two doses of etoposide and 8-day dexamethasone and cyclosporin A treatments (according to HLH2004). In November 2017, the patient exhibited similar clinical signs. The gene mutation analysis report showed mutations in UNC13D-exon26 and UNC13D-exon12 genes, with the specific mutation sites of c.1055 + 1G > A and c.2448-13G>A. After receiving intravenous Xiyanping (a traditional Chinese medicine against viruses), the patient's fever resolved, and her condition stabilized.\nThe patient was admitted to our hospital in October 2018 due to the recurrent symptoms and sign mentioned above. Moderate anemia, abdominal distention, and massive splenomegaly, [Line 1 (The intersection of left midclavicular line and left costal margin to splenic lower margin): 12cm; Line 2 (The intersection of left midclavicular line and left costal margin to splenic distal point): 13cm; Line 3(The right splenic margin exceeds the Midumbilical line): +5cm], were found in her physical examination. Auxiliary examination results were as follows: blood routine test showed white blood cell count (WBC): 3.4 x 109/L, neutrophil count (NE): 0.68 x 109/L, hemoglobin concentration (Hb): 68g/L, platelet count (Plt): 55 x 109/L, Biochemical indicators: Lactate dehydrogenase (LDH) concentration: 305U/L, albumin concentration: 32.8g/L, triglyceride concentration: 1.93mmol/L. Ferritin concentration: 1440ng/mL. Fibrinogen content (Fib):1.93 g/L, Virus series examination showed EBV-DNA level of 5.01 x 104 IU/mL, Soluble CD25 > 44000 U/ml, NK cell activity of 7.45%, and MUNC13-4 (UNC13D) expression report suggested it was lower than that in normal control, which was shown in Figure 2 and Table 1 . A bone marrow biopsy revealed significantly active hyperplasia of nucleated cells, occasional hemophagocytic events, and immature abnormal hematopoietic elements, indicative of mixed anemia. According to the HLH-2004 diagnostic criteria, the patient was diagnosed with primary hemophygocytic lymphohistiocytosis. She received HLH-2004 chemotherapy in the hospital, but Initial treatment yielded unsatisfactory results. Subsequently, L-DEP regimen was used for salvage treatment (pegaspargase, dexamethasone, etoposide). The standard salvage therapy for HLH is doxorubicin liposome (DOX) 25mg/M2 d1, etoposide (VP-16) 150mg d1, dexamethasone (DEX) 8mg/d d1-d5, pegaspargase (peg-asp) 1800U/m2 d3. The patient was a child with low body weight and was treated with a reduced dose of L-DEP regimen: DOX 20mg d1, VP-16 100mg d1, DEX 5mg/d d1-d5, peg-asp 1000U/m2 d3. After two weeks of treatment, according to the evaluation criteria proposed by Marsh et al. The evaluation results showed partial remission. The patient then commenced a continuous treatment regimen of dexamethasone, etoposide, and cyclosporine A. During this period, the patient had recurrences for many times, and various rescue therapies were tried (such as L-DEP and DEP regimen), as well as discussions and considerations of HSCT. Unfortunately, the family members hesitated for a year about whether to accept HSCT.\nThe patient was admitted with a primary symptom of fever persisting for three days, accompanied by seizures manifesting as involuntary twitching of the left upper limb. An allogeneic HSCT was scheduled for February 2019. Physical examination showed moderate splenomegaly [Line 1 (The intersection of left midclavicular line and left costal margin to splenic lower margin): 8.5 cm; Line 2 (The intersection of left midclavicular line and left costal margin to splenic distal point): 9 cm; Line 3(The right splenic margin exceeds the Midumbilical line): -2 cm]. The blood routine test showed pancytopenia. Lumbar puncture also was performed, but the routine, biochemical and morphological examination of cerebrospinal fluid was negative. Virus series examination showed EBV-DNA level fluctuated between 1 x 103 IU/mL and 8.47 x 105 IU/mL. The NK cell activity was 17.57%, and the NK-CD107a level was 3.87%, indicating degranulation defect; the CTL-CD107a (MFI) level was 1.8, also indicating degranulation defect. The SCD25 level reached 102,700 U/ml. The hemophagocytic cells with abnormal cells were easily found in bone marrow slides, and the G test and GM test were all negative. Abdominal ultrasound showed slight enhancement of intrahepatic echoes, thickening of gallbladder wall, and splenomegaly. Brain MR showed white matter damage, as depicted in Figure 3 . Cardiac ultrasound revealed mild insufficiency of the mitral and tricuspid valves. During the treatment process, the patient received ceftriaxone sodium and tazobactam for controlling bacterial infection as well as ganciclovir for inhibiting the replication of EB virus, followed by DEP chemotherapy (DOX 20mg d1, VP-16 100mg d1, DEX 40mg/d d1-d5). Post-treatment assessments showed a reduction in spleen size and improvements in blood test results; yet the high body temperature still persisted. At present, according to FHL treatment guideline, the patient is deemed a suitable candidate for transplant.\nIn December 2019, the patient with familial hemophagocytic lymphohistiocytosis (FHL) persisting for over five years was unable to secure a compatible donor from the Chinese bone marrow bank. Consequently, the family requested HLA6/10 Haploidentical Allogeneic HSCT from brother to sister. The donor's results of hereditary gene test were negative. The patient was treated with myeloablative conditioning (MAC) regimen including busulfan (0.8mg/Kg 4/d -8d~5d), fludarabine (25mg/M2 1/d -8d~4d), cyclophosphamide (15mg/Kg 1/d -8d~4d) and etoposide (0.07g/M2 1/d, -4d). Initially, etoposide was not used due to the excessive accumulation of etoposide (3.3g/m2) in previous treatment. The conditioning began on day -8, but on day -5, the patient still had moderate fever and progressive splenomegaly with occasional seizure, which might be related to the release of inflammatory factors (IL-6: 9.44 pg/ml IL-10: 85.74 pg/ml IFN-gamma: 28.67 pg/ml) caused by FHL ( Table 2 ). Considering this situation, the conditioning regimen was adjusted to add methylprednisolone 200mg (1/d, -5d~ -3d) to control hemophagocytic syndrome. On day -4, the patient still had fever and splenomegaly without significant improvement, 0.07g etoposide and 2.5mg BID ruxolitinib (-4d ~-2d) was added to conditioning regimen to clear inflammatory factors produced by hemophagocytic cells. After removing hemophagocytic cells with busulfan and cyclophosphamide, some cytokines (IL-5 IL-6 IL-1beta IL-8) that promote inflammatory responses were released in blood, so plasma exchange was added on day -2 to reduce these cytokine levels. After plasma exchange, the patient's consciousness, symptoms, body temperature and spleen size (Line 1: 6cm; Line2: 7cm, Line 3: -1cm) were improved, and no neurological symptoms occurred. Eventually donor peripheral blood stem cells (PBSC) were reinfused: NC 93.92x108/kg, MNC 33.80x108/kg, and CD34 12.48 x106/kg. Given the high risk of EBV infection (6.02 x 104 IU/mL) before transplant, the slow speed of immune reconstitution, high recurrent EBV infection rate, and increased incidence of post-transplant lympho-proliferation-related disease (PTLD), post-transplant cyclophosphamide (PT-Cy) was given on +3d and +4d. On the other hand, the patient experienced reactive disease before a salvage transplant which was high probability of relapse. To improve patient survival, transplant strategies need to be optimized. Existing literature reported higher doses of CD34 positive cells can improve poor engraftment (PGF), but may also increase the risk of GVHD. Timothy et al. showed that higher CD34 cell doses (>7.5x106/kg) were associated with better 5-year OS and improved engraftment, but with an increased risk of chronic GVHD. Besides, Shiratori et al. suggested that low-dose ATG (2mg/kg) could reduce severe acute and chronic GVHD after myeloablative conditioning in adults. ATG given pre-transplant has a long half-life, and it lasts until about 1 month after transplantation. From these literatures, we can infer that there is also a certain concentration of ATG within 1 month after transplantation. Prior to transplantation, this patient had relapsed FHL due to recurrent EBV infection. Stable and rapid functional recovery of NK cells after transplantation is the key to reduce recurrence. Thus, the strategy of increasing donor NK cell infusion is expected to reduce FHL recurrence without increasing GVHD. In this patient's transplantation, we selected high MNC infusion volume, applied PT-Cy and low dose ATG to remove T cells, and retained the number of NK cells, in order to achieve this transplantation strategy optimization, which was also confirmed by literature. A retrospective study shows: ATG+PT-Cy developed the quicker reconstitution in some NK cell subtype which may help with avoiding relapse in haploidentical transplant.\nThe patient was a child with a low body weight and was given a low-dose ATG regimen because the spleen that did not shrink to normal would withhold a portion of the implanted cells during cell transfusion. Hence, 17mg ATG (1mg/kg) was given on +5d to reduce acute GVHD, while the recovery of NK cells was not affected. On the +24th day after transplant (1st stem cell infusion), the bone marrow aspiration showed abnormal nuclear morphology and phagocytosis signs of erythroid hematopoietic components; meanwhile, chimerism analysis on day +26 showed that the T cell chimerism was full donor chimerism (98.2%), and the granulocyte (92%) and B cell (90%) were mixed chimerism. While on the +28d after transplant (1st stem cell infusion), the blood routine test showed WBC 0.7x109/L, NE 0.3x109/L, Hb 77g/L, and Plt 36x109/L (after platelet and red blood cells infusion); which suggested that PGF may be present despite the shrunk spleen size (Line 1: 2cm; Line2: 3cm, Line 3: None). Thus, preserved donor PBSC were reinfused again and without conditioning regimen for just a cell boost given: NC 18.494x108/kg, MNC 4.82x108/kg, and CD34 2.12 x106/kg on the 28th day after transplant (1st stem cell infusion); In addition, hetrombopag olamine were also used to promote platelet production. The granulocyte engraftment was at 29th days after transplant, and the platelet engraftment at +48 days after transplant, and it took about 110 days for the platelets return to normal. Chimerism analysis was performed on day +50: T cell chimerism was full donor chimerism (99.8%), granulocytes (99.75%) and B cells (98.21%) were full chimerism (all above were calculated on the first day of cell infusion). The patient's temperature remained normal, and the spleen size reduced to 3cm sub-costally by day +50. EBV status converted to negative within a week post-transplant. All of these symptoms suggested that the patient's FHL had been well controlled. After the condition was stabilized, the patient was discharged from the hospital and was followed up regularly at the outpatient department.\nHemophagocytic Lymphohistiocytosis (HLH) is a rare disorder characterized by excessive immune activation and uncontrolled inflammation. In China, the total incidence of HLH was reported to be approximately 1.04% in 2019. HLH can be divided into primary HLH and secondary HLH. Primary HLH, including FHL and immune deficiency syndrome-associated HLH, is an autosomal recessive genetic disease that mostly occurs in infants. The genes mutations known as related to primary HLH include PRF1, UNC13D, STXI11, STXBP2, LY-ST, RAB27A, ADTB3A, SH2D1A, XIAP, BIRC4, ITK, CD27 and MAGT1. Viral infections, especially EB virus, are the most common infection in patients with HLH. A retrospective study has highlighted that primary HLH patients with central nervous system involvement tend to have a worse prognosis. The 3-year overall survival of patients with central nervous system involvement is significantly lower than that of patients without central nervous system involvement. Early recognition and prompt treatment are crucial for improving outcomes in HLH cases.\nDue to the lack of specific clinical manifestations of HLH, misdiagnosis is easily caused. The severity of its clinical manifestations is related to the degree of immune cell activation and cytokine levels. The HLH-2004 diagnostic criteria, updated by the International Society of Histology and Cell Biology in 2004, are the benchmark for diagnosing HLH. According to these criteria, a diagnosis can be confirmed if any of the following two criteria are met: (1) molecular genetic test results are consistent with HLH-related pathogenic gene mutations, such as PRF1, UNC13D, STXI11, STXBP2, etc.; (2) at least five of the following eight indicators are met simultaneously: (1) persistent body temperature >38.5 C for more than 7 days; (2) splenomegaly; (3) significant bilineage or trilineage cytopenia in peripheral blood: hemoglobin <100 g/L in infants <4 weeks of age, or <90 g/L in other cases; platelet count <100x109/L; neutrophil count <1.0x109/L not caused by bone marrow hypoplasia; (4) Increased triglyceride (TG) and/or decreased fibrinogen: TG >3 mmol/L or more than 3 standard deviations above the age group, fibrinogen <1.5 g/L or less than 3 standard deviations above the age group; (5) Hemophagocytosis was observed in the bone marrow, spleen, liver or lymph nodes; (6) Reduced or absent NK cell activity; (7) Increased ferritin level: ferritin >=500 ng/mL; (8) Increased sCD25 (soluble IL-2 receptor).\nEB virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) is a common subtype of HLH in Asian countries. In EBV-HLH patients, infected T cells overproduce inflammatory cytokines, leading to macrophage activation. The present case involves a pediatric patient who developed familial HLH (FLH) as a result of recurrent EBV infections, with the added complexity of central nervous system involvement. After a challenging course, the child ultimately underwent successful salvage transplant.\nA study has shown that 40%-70% of pediatric HLH patients show central nervous system involvement. HLH with central nervous system involvement is often characterized by nonspecific neurological symptoms and signs, such as seizures, mental status changes, pseudo-meningitis, and focal neurological signs. In the case presented, the patient experienced transient seizures, highlighting the clinical challenge posed by CNS-HLH. Currently, there is an absence of definitive diagnostic criteria for CNS-HLH, making its assessment reliant on a combination of neurological signs/symptoms, neuroimaging abnormalities, and cerebrospinal fluid (CSF). The preferred modality is MRI of the brain. MRI imaging features are highly nonspecific and variable, such as multiple white matter lesions (66%), cerebellar encephalitis (19%), and brainstem dominant disease (15%). In pediatric patients, common radiological signs include periventricular white matter hyper-intensity and generalized brain atrophy. Moreover, a significant number of individuals with CNS-HLH present with CSF abnormalities. These can manifest as increased cellularity, pleocytosis, elevated protein concentration, and the presence of hemophagocytosis.\nEarly diagnosis and identification of risk factors is crucial in managing secondary hemophagocytic lymphohistiocytosis (sHLH). In a retrospective study of 162 patients with sHLH, a minimal parameter set was found which consisting of 2 major criteria (hemophagocytosis and splenomegaly) and 3 minor criteria (cytopenia, increased ferritin, and increased triglycerides/low fibrinogen). HLH was most likely when a patient either had 2 major positive criteria, 1 major and 2 minor positive criteria, or 3 minor positive criteria. In a study of Saralee et al., central nervous system involvement and low baseline platelet count are independent predictors of early death in children with HLH. Meanwhile, Zhou et al. showed that if albumin <25 g/L, APTT >65s, LDH >1000 U/L, or age <28 months at diagnosis were independent risk factors for poor early prognosis in children with HLH. These findings emphasize the importance of early detection and risk assessment in managing sHLH.\nOnce diagnosed with HLH, it is imperative to initiate systemic treatment with immunosuppressants or anti-inflammatory drugs promptly, alongside targeted therapies for associated infections, pancytopenia, and coagulation dysfunction, to halt disease progression. Allogeneic HSCT is considered the only curative therapy. The International Association of Tissue Cells found in numerous clinical studies that the 5-year survival rate of FHL patients receiving HSCT was 50%, while all children who did not receive HSCT died. For FHL, those patients as the candidates for HSCT will have the greatest chance of being cured. A retrospective study on pediatric HLH showed that the patients based on the time interval from diagnosis to transplant were divided into a short-time interval group and a long-time interval group, and the 3-year OS rates of the two groups were 83.3% and 66.7%, respectively. Even if there is active disease at the time of transplant, HSCT is an important treatment for CNS-HLH. And patients with FLH may also benefit from immediate HSCT. Therefore, we inferred that the prognosis of early transplant following partial response yields a better prognosis than delayed transplant following complete remission in children with hemophagocytic syndrome. At the same time, Greental et al. showed that 5-year EFS rates were higher with MAC regimen for transplant from either HLA matched or alternative donors, so the patient used MAC as conditioning regimen. Certainly controlling hemophagy was also a vital factor for achieving long-term survival. This case is a HLA6/10 Haploidentical Allogeneic HSCT from brother to sister with MAC regimen. Before transplant, factors such as disease activity and splenomegaly can affect the engraftment of donor cells. If hemophagy is not controlled, poor retraction of the spleen often results in PGF, as exemplified in this case. However, there is no standard conditioning regimen before transplant. Studies have shown that plasma exchange can control the release of cytokines related to HLH, and is critical means before transplant in patients who fail to respond to traditional treatment. Additionally, etoposide and busulfan also play a crucial role in removing hemophagocytic cells. Etoposide was not included in the original conditioning regimen for this patient, while the hemophagy was not controlled, so we had to introduce etoposide and plasma exchange into conditioning regimen to control the hemophagy. Therefore, we believe that the future optimization of FHL conditioning regimen should pay attention to retaining etoposide and adding plasma exchange at an appropriate time, which can enhance the control of the disease, but does not affect the effects of other drugs. In this case, despite an increased CD34+ cell dose, this patient required a subsequent infusion to achieve stable engraftment. Inadequate disease control at the time of salvage HSCT is a significant contributor to engraftment failure. Prioritizing this aspect can diminish the risk of PGF.\nOverall, this study reports a case of FHL caused by UNC13D mutation treated with allogeneic HSCT, providing valuable clinical experience in salvage therapy of FHL. Given that HSCT is currently the ultimate curative treatment for FHL, and in order to make HLH patients get a bright prognosis, more optimized conditioning regimens, higher engraftment rate, and better control of inflammatory cytokine storm occurring during transplant are still the important directions in the future.",
"gender": "Female"
}
] |
PMC11180752
|
[
{
"age": 8,
"case_id": "PMC11324540_01",
"case_text": "A 8-year-10-month-old girl was admitted from the Emergency Department with a primary complaint of intermittent fever reaching up to 40 C for 3 days on July 1, 2022 (D1). She was previously diagnosed with COVID-19 on June 8th, 2022. This time, she also had a minor cough with sputum, sore throat, a single episode of vomiting, and loose stools. Her dietary consumption has also been reduced. In the ED, she presented with a fever up to 39 C and her hemogram demonstrated white blood cell count (WBC) 9,900/ul, with differential counts of neutrophils (76.4%), lymphocytes (10.4%), monocytes (7.4%), eosinophils (3.1%), and basophils (2.7%). Additionally, her blood biochemistry testing revealed high hsCRP (6.52 mg/L), and elevated PCT (1.27 ng/mL).\nAfter hospitalization, her condition worsened with the persistence of fever and the development of chest pain, and rapidly progressive into to cardiogenic shock, as indicated by hypotension and elevated cardiac enzyme levels, particularly Troponin-I (1.11 ng/mL). She was diagnosed with MIS-C based on the presence of fever, elevated CRP and PCT, cardiac and gastrointestinal involvement. In response to her deteriorating condition, she was transferred to the Pediatric Intensive Care Unit where she underwent treatment with IVIG totaling 51 grams (2 g/kg/dose) and dopamine continuous infusion.\nFollowing this intervention, the patient's condition gradually stabilized, and she was transferred to the general ward on July 12th, 2022 (Day 12). Throughout her hospitalization, we closely monitored various inflammatory markers, including D-dimer, ferritin, and hsCRP, which exhibited a gradual decrease. Meanwhile, the level of inflammatory cytokines (IL-6, IL-1beta, IL-6R, IL-10, TNF-alpha) and miRNAs were measured later using ELISA assay and quantitative PCR, respectively. Importantly, she did not experience any further episodes of fever. Considering her stable condition and improving inflammatory markers, the decision was made to discharge the patient, with plans for outpatient follow-up care.",
"gender": "Female"
}
] |
PMC11324540
|
[
{
"age": 18,
"case_id": "PMC11035871_01",
"case_text": "Pgaz K'Nyau Peoples (a Karen ethnic subgroup) traditionally practice rotational farming, a type of shifting cultivation with 6-12 year fallows that support agrobiodiversity and dietary diversity. Forest conservation policies and market integration pressures are driving conversions toward monoculture, agrochemicals and market reliance. Simultaneously, highland infrastructure projects (e.g., roads, electricity) are increasing market access and altering local diets, resulting in Pgaz K'Nyau food environment transitions.\nDietary diversity from different food environment types was assessed in San Din Daeng village, Chiang Mai province, Thailand. Emic local classifications of types of food environments were discussed in focus groups (n = 6 women). Focus group participants classified food sources under the following types of food environments: (i) Cultivated: monoculture animal feed corn fields (indirect dietary pathway via income generation reinvested in market food purchases), (ii) Wild: forests (though forests are sites of animal husbandry, participants considered forests mostly 'wild'), (iii) Wild-Cultivated: home gardens, swiddens, agricultural streams, and rice paddies (rice paddies were included due to the presence of aquatic wild foods), (iv) Informal Market: fresh markets, kiosks, street vendors, informal shops and restaurants, and (v) Formal Market: supermarkets (e.g., Tesco Lotus, Big C and Macro) and convenience stores (e.g., 7-11) located in Chom Thong town.\nThe Gallup Poll's Thailand-adapted Diet Quality Questionnaire (DQ-Q) was administered to one adult woman (>18 years old) per household (n = 31; 94% of households) in late rainy season (late September - October, 2023). Sources of food items consumed the previous day were also recorded (e.g., Cultivated: monoculture non-swidden crop field; Wild-Cultivated: home garden, swidden, rice paddy, agricultural pond or stream; Wild: forest or forest stream; Informal Market: fresh market, village kiosk, informal shop, informal restaurant, street vendor; and Formal Market: convenience store or supermarket) (see Supplementary Information for survey questions).\nThe average Dietary Diversity Score was 5.4 (ranging from 3 to 9) with 68% of respondents exceeding the Women's Minimum Dietary Diversity Score of 5 (21 out of 31 women). Wild-cultivated environments were the most frequented type of food environments with respondents reporting daily visits on average (compared to 4 times per week for informal markets, once a month for wild environments, and less than once a month for cultivated and formal market environments).\nMore food items were consumed from wild-cultivated environments than any other type of food environment (37% or 88 out of 240 food items reported in the DQ-Q; see Figure 2). Wild-cultivated food environments were the main source of micronutrient-rich food groups (vitamin A-rich fruits and vegetables, dark green leafy vegetables, other vegetables and other fruit) consumed the previous day. The majority of vitamin-A rich fruits and vegetables were obtained from home garden and swidden wild-cultivated environments (91%, or 8 out of 11 food items with an additional 2 shared food items). Wild-cultivated environments provided 65% of dark green leafy vegetables (10 out of 17 reported food items, and 1 shared food item), 68% of other fruits (15 out of 28 food items with an additional 4 shared items), and 39% of other vegetables (21 out of 67 food items with an additional 5 shared items) (see Supplementary Table S1 in Supplementary Information). Animal-sourced foods, such as meat, fish and eggs, were predominately obtained from informal markets. Carbohydrate staples, such as rice, were mostly acquired from wild-cultivated swiddens and rice paddies (31 out of 37 reported grain food items, or 84%).\nDespite rapid social-ecological change, San Din Daeng residents continue to rely heavily on natural food environments and particularly wild-cultivated environments. The formal market environment that has dominated food environment research is only marginal in this semi-subsistence setting (none of the food items reported in the DQ-Q were acquired from formal markets). The case of the Pgaz K'Nyau food environment of San Din Daeng village demonstrates that the previously overlooked wild-cultivated food environment can contribute substantially to local diets.",
"gender": "Female"
}
] |
PMC11035871
|
[
{
"age": 46,
"case_id": "PMC10629323_01",
"case_text": "A 46-year-old Ghanaian woman who had been hypertensive for 4 years but non-compliant with treatment presented to our hospital with right-sided weakness. She noticed the weakness upon waking up from sleep in the morning. She could not move her right upper and lower limbs making it difficult for her to get out of bed. She could, however, move her left extremities without any difficulty. There was no slurred speech, dysphagia, headache, seizures, loss of consciousness or loss of sensation. There was also no bladder or bowel dysfunction. Again, she denied diarrhoea, vomiting, heat intolerance or excessive sweating. There was no history of laxative or diuretic use prior to the onset of the right-sided weakness. She neither engaged in any strenuous physical activity nor took high carbohydrate diet before going to bed the previous night. She did not have a past or family history of stroke or any other form of muscle weakness. Her husband took her to a health centre where her blood pressure was found to be 172/130 mmHg. She was given nifedipine 30 mg stat by oral route and subsequently referred to our hospital (Methodist Hospital, Wenchi, Ghana) for further management.\nOn physical examination, she was afebrile with a temperature of 36.7 C, anicteric, not pale and not in respiratory distress. She had a regular pulse of 94 beats per minute and repeat blood pressure was 165/120 mmHg. She was alert, awake and oriented in time, place and person. She had supple neck and negative Kernig's sign. On neurological assessment, muscle power was 3/5 and 2/5 in the right upper and lower limbs, respectively. Tone and deep tendon reflexes were reduced with flexor plantar response. She had intact sensation and normal cranial nerve examination findings.\nLaboratory investigations showed normal full blood count, renal and liver biochemistries, lipid profile, fasting blood sugar (5.8 mmol/L) and negative HIV status. Based on the clinical findings, acute stroke was suspected. However, plain computed tomography (CT) scan of the brain was normal. Subsequent contrast-enhanced CT scan of the brain also did not reveal any space-occupying lesion. Magnetic resonance imaging of the brain was not done because she could not afford, and it is also not readily available in the part of our country where she was hospitalized. Further laboratory workup demonstrated reduced serum potassium level of 2.6 mmol/L. Other relevant electrolytes, thyroid stimulating hormone, plasma aldosterone concentration and plasma renin activity were all normal as shown in Table 1. Resting electrocardiogram (Figure 1) showed normal sinus rhythm with widespread ST segment and T wave changes with prolonged QT interval (corrected QT interval of 500 ms). Genetic testing for channelopathies was not done due to its unavailability in our country.\nFollowing intravenous administration of 60 mEq of potassium chloride, the right-sided weakness completely resolved after 48 hours with serum potassium level rising to 3.5 mmol/L. Oral supplementation with potassium chloride 600 mg three times daily was given afterwards. Her blood pressure was controlled with nifedipine 30 mg daily and lisinopril 10 mg daily. Electrocardiographic changes returned to normal. Based on the clinical findings as well as the rapid and complete resolution of the right-sided weakness after correction of the hypokalaemia, a diagnosis of hypokalaemic paralysis was made. At follow-up 1 month and 4 months after discharge, her serum potassium was 4.3 mmol/L and 4.6 mmol/L, respectively, with no recurrence of muscle weakness.",
"gender": "Female"
}
] |
PMC10629323
|
[
{
"age": 74,
"case_id": "PMC10515550_01",
"case_text": "The patient is a 74-year-old male with a notable history of insulin-dependent diabetes mellitus, renal cell carcinoma with nephrectomy, and ESKD on maintenance PD who presented to a large metropolitan medical center hospital admitted with COVID-19 infection confirmed by nasal swab PCR ( 2021 Cepheid Gene Xpert SARS-CoV-2/Flu/RSV). Chest X-ray imaging demonstrated multilobar infiltrates. The patient was transferred to the intensive care unit within 12 hours of presentation with escalation of oxygen requirement to 60 liters per minute by nasal canula to maintain oxygen saturations greater than 89%. Chemistries were also notable for worsening hyperglycemia, anion gap metabolic acidosis, and elevated b-hydroxybutyrate, consistent with diabetic ketoacidosis. Patient was started on ceftriaxone and azithromycin for empiric coverage of community-acquired pneumonia, and dexamethasone for COVID-19 pneumonia. The suitability of remdesivir treatment for the patient's concomitant severe COVID-19 infection with specific regard to safety and monitoring was considered by the critical care, renal, and pharmacy teams. The concomitant metabolic derangements in this patient further heightened the medical team's concern for patient safety. After a discussion of the benefits versus risks of remdesivir with the patient, he agreed to proceed with remdesivir treatment, given the severity of his COVID-19 infection. The critical care, renal, and pharmacy teams opted to monitor daily renal clearance and liver function while dosing remdesivir daily for 5 days total. Remdesivir would be discontinued if liver enzymes increased to greater than 5 times the upper limit of normal. The patient continued to receive daily PD and treatment for diabetic ketoacidosis with intravenous insulin and normal saline hydration.\nPatient was started on dexamethasone, remdesivir, and consented to receive an experimental research drug (ACTIV-3: Therapeutics for Inpatients With COVID-19 [TICO]) while receiving daily PD. Peritoneal culture and cell counts were obtained through PD effluent sampling on day 1 in the intensive care unit and were unrevealing for bacterial peritonitis. Patient was a rapid/fast transporter on prior outpatient PD equilibration testing. After an initial trial of lower dwell volume to ensure tolerance, exchanges were increased to 6 cycles of 2 liters from 5 cycles (home regimen) to improve metabolic clearance, with a weekly kt/v of 2.2 (Fadem PD kt/V calculator) excluding residual renal function (minimal urine output). Dialysate dextrose concentration was initially 1.5% in context of diabetic ketoacidosis, subsequently adjusted daily to achieve and maintain euvolemia. The patient's respiratory status improved to achieve SpO2 of 95% on 8 liters nasal canula by the fifth dose of remdesivir (Table 1). His metabolic derangements also normalized with resolution of his metabolic acidosis and normalization of his anion gap (Table 2). While there was a trending rise in liver function tests, this was insignificant and remained within the normal range. In addition, there was no clinical evidence for acute liver dysfunction. The patient was transferred out of the intensive care on day 6 to a step-down unit where he continued to improve in respiratory status and correction of metabolic derangements.",
"gender": "Male"
}
] |
PMC10515550
|
[
{
"age": 72,
"case_id": "PMC10814121_01",
"case_text": "We present a clinical case of a 72 years-old, non-smoking, immune-competent normoponderal patient, who suffered over 40 years from persistent, extensive hidradenitis suppurativa on the buttocks and perianal region. He was treated for over 40 years with oral antibiotics and retinoids, local topical antibiotics, steroids, and a multitude of antiseptics without success. He had periods of remission and exacerbation. During the dermatological consultation, we found an active area of HS in stage Hurley III on the buttocks and perianal region and two verrucous semi-consistent, skin-colored tumors on the right buttock, having a base diameter of 2.5 and 3 cm, presenting spontaneous bleeding (Figure 1). These tumors developed relatively quickly in approximately 3 months. The patient is suffering from several chronic diseases, like chronic obstructive pulmonary disease, essential hypertonia, arthrosis, and osteoporosis, which were under medical control and are not related to HS. He is not suffering from diabetes. His family medical history was unremarkable. The results of routine laboratory testing like hematology and biochemistry were within the normal limits. The treatment decision was the surgical removal of the tumors. The histopathological examination of the two excised tumors confirmed the verrucous type of squamous cell carcinoma (Figure 2). Based on the clinical and histological examination, the patient was transferred to an oncology service for further examination and treatment options. Unfortunately, due to the advanced stage of the carcinoma, the evolution was fatal for the patient.",
"gender": "Male"
}
] |
PMC10814121
|
[
{
"age": 2,
"case_id": "PMC11110497_01",
"case_text": "A mother presented to our orthopedic Out patient department with her 2-year 6-month-old boy complaining of extra growth of fingers on both hands. The toddler is otherwise healthy. No other abnormalities were detected elsewhere in the body at birth and thereafter. He is the middle child and has a younger sister and elder sister who is medically free with no history of polydactyly. He is of Asian descent and there is no family history of similar deformities or any genetic disorders. On examination, a postaxial extra digit was noted in bilateral hands (Figure 1). It was noted to be a rudimentary digit with a soft tissue Skin Bridge. The function of the digit was intact with active flexion and extension, and hand grip ability. There were no skin creases noted at the affected site at the Metacarpophalangeal joint region.\nWritten and informed consent was obtained from the mother of the minor patient for anonymized patient information to be published in this article.\nX-rays of the bilateral hand revealed postaxial polydactyly without bony involvement (Figure 2).\nPreoperative evaluation revealed no other underlying conditions and the boy was considered healthy with no other abnormalities and malformation detected. The child was operated under general anesthesia. An elliptical incision was made. Dissection was done, and the vessels supplying the extra digit were ligated and excision of the pedunculated postaxial digit was performed. There was no nerve identified that supplied the extra digit. The wound was closed using 4-0 nylon Ethicon (Figure 3).\nImmediate postoperative follow-up and review at the orthopedic ward were uneventful. The patient was admitted for 2 days following surgery for observation of any complications at the surgical site. Wound care was provided at the ward.\nThe patient was advised to follow up on postoperative day 7 for wound evaluation. On follow-up examination, the surgical site wound was noted to be healthy and healed with no other complications (Figure 4). The child's range of motion of the hand and function was intact as it was preoperatively. He did not have any pain or tenderness at the surgical site. The suture was removed on postoperative day 10 and the patient was advised to resume normal activity of the hands. Follow-up after a period of 1 month showed no adverse events. The functional outcome was noted to be good.",
"gender": "Male"
}
] |
PMC11110497
|
[
{
"age": 78,
"case_id": "PMC10801068_01",
"case_text": "In a 78-year-old man with a body mass index of 21.6 kg/m2 and 10-year history of coronary artery disease after acute anterior wall myocardial infarction, direct coronary artery revascularization was performed with implantation of 2 DES stents in the proximal left anterior descending artery. Left ventricle systolic function was preserved with left ventricular ejection fraction 60% after intervention. Since the myocardial infarction there was evidence of long-standing persistent atrial fibrillation, CHA2DS2Vasc score 3, being treated with apixaban 5 mg twice daily. Owing to slow ventricular response during atrial fibrillation and significant asystolic pauses up to 6 seconds, a single-chamber right ventricle (RV) pacemaker was indicated.\nA Micra TPS was implanted as part of the IDE clinical trial, without any complications, on December 19, 2014. At implant RV pacing threshold was 1.2 V / 0.24 ms, R-wave sensing amplitude 17.4 mV, and impedance 640 Omega. Two weeks after implantation clinical improvement was reached, with diminishing of dyspnea and fatigue. During subsequent follow-ups over the years there was evidence of a gradual increase in pacing thresholds up to 2.5 V / 0.24 ms. Total percentage of RV pacing reached 63.2%. During the last examination in pacemaker clinic estimated pacemaker end of life was minimum 2 and maximum 6 months. Immediate exchange of the TPS was indicated. Because of moderate anemia related to prolonged treatment with non-vitamin K antagonist oral anticoagulants (apixaban 5 mg twice a day), mechanical left atrium appendage closure was considered as an optional additive treatment. There was a patient request to retrieve the old LP device.\nThe index retrieval procedure and new Micra TPS implantation were done on March 29, 2022, 2657 days after first TPS implantation.\nAfter right femoral venous puncture, a standard 23F Micra sheath was introduced. Before insertion of the delivery catheter for the Micra TPS, we cut the tether and also removed the original device from the package. Through the central lumen of the delivery catheter a single snare-loop 7 mm catheter (Amplatz Goose Neck; ev3 Inc, Plymouth, MN) was inserted (Figure 1A). Under fluoroscopy with the guidance of intracardiac echocardiography (ICE), after several attempts we successfully snared the proximal insertion knob (Figure 1B and 1C) and tightly connected the distal hub of the delivery catheter to the old Micra body. With slight force, the operator was able to place the cover cap of the delivery catheter near to the LP RV wall insertion (Figure 1D-1F). Up to this point the operator did not apply any strong force. When the distal edge (visible under fluoroscopy) was in contact with the endocardium, the operator applied counter-traction force. Under fluoroscopy we could control slow movements of all insertion tines, changing their geometry, and then pulled out all insertion tines inside the delivery cup. When the tines were covered by the cup, the old Micra TPS was freed from the RV wall and successfully removed from the patient's body (Figure 2A-2D). Immediate reimplantation of a new Micra TPS through the same Micra 23F sheath into the RV apicoseptal area was achieved, with excellent pacing parameters: RV sensing 12.8 mV, impedance 690 Omega, threshold 0.25 V / 0.24 ms (Figure 2E and 2F). Total procedure time was 45 minutes; total fluoroscopy time was 5 minutes. There were no significant signs of tissue on preprocedure ICE recording and on the retracted device itself (Figure 3A-3C). The patient was discharged the next day and during follow-ups the stable pacing parameters were confirmed.",
"gender": "Male"
}
] |
PMC10801068
|
[
{
"age": 44,
"case_id": "PMC10660447_01",
"case_text": "A 44-year-old woman with a history of type 2 diabetes mellitus was admitted to the hospital with dysuria, fevers, and abdominal pain. She was found to have a white blood cell count of 91x109 cells/L with a differential notable for 70% blasts, 11% lymphocytes, 7% neutrophils and 7% monocytes. Her hemoglobin was 8.9 g/dL and the platelet count was 45x109 cells/L. Urinalysis revealed pyuria with urine culture subsequently growing extended spectrum beta lactamase (ESBL) Klebsiella pneumoniae. Pyelonephritis was diagnosed and she was treated with 7 days of levofloxacin with resolution of her symptoms and fevers.\nWith her elevated peripheral blasts, leukemia was suspected. Bone marrow biopsy was performed and demonstrated a hypercellular bone marrow with 85% blasts, consistent with a diagnosis of AML with monocytic features. Induction chemotherapy with cytarabine/idarubicin (7+3) was initiated.\nOn day 6 of induction, the patient developed neutropenic fever reaching 38.7 C and, a day later, multiple tender erythematous papules and plaques with some scattered pustules on the anterior chest (Figure 1A).\nOver the next 2 days, the rash spread centrifugally to the upper abdomen, bilateral upper limbs, neck, scalp, and ears (Figure 1B). The patient was started on cefepime for empiric treatment of neutropenic fever. Blood and urine cultures were subsequently negative and no potential source of infection was ultimately identified. Biopsy of the rash from the anterior chest was performed, revealing neutrophilic infiltration of the dermis with upper dermis edema and scattered reactive fibroblasts. Fungal and bacterial stains and cultures were negative. A presumptive diagnosis of SS was made and the patient was started on prednisone with prompt improvement of symptoms, including decreased erythema and tenderness of the rash and resolution of fevers (Figure 2). She was discharged two weeks after rash onset following count recovery to complete a 5-week steroid taper. Follow up 2 weeks into her steroid taper demonstrated near complete resolution of the rash. No recurrence of the condition was reported at an 8-month follow-up visit.",
"gender": "Female"
}
] |
PMC10660447
|
[
{
"age": 51,
"case_id": "PMC11259486_01",
"case_text": "A 51-year-old African-American male presented to the primary care clinic with chest pain following multiple emergency department (ED) visits. His medical history is significant for hypertension, hyperlipidemia, type 2 diabetes mellitus, and obesity, for which he had undergone sleeve gastrectomy. Early CAD was evident on his maternal side of the family. The patient did not have established atherosclerotic cardiovascular disease (ASCVD); however, his risk score was elevated at 21.9%.\nThe patient reported experiencing intermittent, non-exertional substernal chest pain radiating to his left upper extremity and neck. The pain varied between sharp and dull qualities and was reproducible on examination. Leaning forward and manipulating his left shoulder exacerbated the pain. He also reported experiencing shortness of breath, pleuritic chest pain, clamminess, and a globus sensation. Eighteen days following the onset of symptoms, the patient visited ED. His vital signs were within normal limits at the time of presentation. An electrocardiogram (EKG) revealed Q waves in the inferior leads with no ST-T wave changes (Fig. 1); however, prior EKGs were not available for comparison. Serial troponins were not elevated. A chest CT angiogram (CTA) ruled out pulmonary embolism and aortic dissection/aneurysm; however, it revealed moderate to severe calcified atherosclerotic plaques in the coronary arteries. The patient responded well to nonsteroidal anti-inflammatory drugs (NSAIDs) and oral steroids, which were continued upon discharge. The following week, the patient visited the ED three more times with the same complaints and was admitted for observation and cardiological evaluation. He underwent a Regadenoson stress test and Technetium 99m single- photon emission computed tomography (SPECT), which revealed no abnormalities. Interestingly, in addition to responding to NSAIDs, the patient also responded to nitroglycerin during his ED visits. The timeline of events is provided in Fig. 2.\nAfter experiencing symptoms for 34 days, the patient sought care at a primary care clinic. Based on the ED visits, the symptoms were thought to be of a musculoskeletal origin, likely due to costochondritis, and muscle relaxants and NSAIDs were recommended. However, given his elevated ASCVD score, aforementioned CT results, and the continued suspicion of an underlying cardiovascular process, the patient was upgraded from a moderate to a high-intensity statin and was referred to an outpatient cardiology clinic. Following further evaluation, his coronary artery calcium score was elevated to 1925. Thus, he underwent an invasive coronary angiography 105 days after symptom onset, which revealed a 100% occlusion in the right coronary artery, 50-60% stenosis in the proximal left anterior descending artery, 70-80% occlusion in the proximal left circumflex artery, and 60-70% stenosis in the obtuse marginal artery. The patient was optimized on medical therapy, and on day 112, the patient underwent a coronary artery bypass graft (CABG) procedure, which resolved his cardiac-originating chest pain. However, the pain associated with costochondritis persisted and continued to improve with NSAIDs.",
"gender": "Male"
}
] |
PMC11259486
|
[
{
"age": 71,
"case_id": "PMC11324272_01",
"case_text": "The patient was a 71-year-old Asian Japanese man with a history of hypertension. He had no psycho-socioeconomic history nor a family history of hereditary breast or ovarian cancer-related or Lynch syndrome-related cancer. In October 2019, he visited the urology department with the chief complaint of urinary retention and was referred to our department for further examination due to a relatively high prostate-specific antigen (PSA) level of 141 ng/mL. Pelvic MRI revealed an irregularly-shaped neoplastic lesion centered on the prostate gland and extending into the bladder, seminal vesicles, perineum, and anorectal muscles, which showed low signal intensity on T2-weighted imaging and high signal intensity on diffusion-weighted imaging. No significant pelvic lymphadenopathy was observed. A prostate needle biopsy revealed adenocarcinoma with a Gleason score of 5 + 5 = 10 (Fig. 1). Bone scintigraphy and computed tomography (CT) revealed bone metastasis without visceral metastasis (Fig. 2a). Based on the LATITUDE high-risk criteria, abiraterone acetate combined with degarelix was introduced, and intensity-modulated radiation therapy (55 Gy/20 fr) was administered. At 4 months after the initial treatment, the patient's PSA level decreased to 0.144 ng/mL, and both the primary and metastatic tumors shrank (Fig. 2b). At 18 months after the initial treatment, his PSA level increased to 2.869 ng/mL, and docetaxel (30 mg/m2 every 2 weeks) was administered. The liquid CDx Cancer Genome Filing cancer gene panel test showed the presence of a BRCA2 mutation with an MSI-high status (Table 1). After six courses of docetaxel, olaparib was introduced; however, CT showed enlargement of the prostate at 2 months after the initiation of olaparib (600 mg/day) treatment, and his PSA level increased to 15.69 ng/mL. Subsequently, pembrolizumab (200 mg every 3 weeks for 3 cycles, and then 400 mg every 6 weeks for 3 cycles) was administered to the patient. His PSA level decreased, and CT showed that the LNs had decreased in size (Fig. 2c, d, 3, 4). We monitored his laboratory data, including PSA levels, every month and also performed CT every 3 months. His PSA level continued to fall to less than 0.025 ng/mL, and no recurrence was observed at 9 months after the initiation of pembrolizumab treatment. The CARE Checklist has been completed by the authors for this case report, attached as online supplementary file (for all online suppl. material, see https://doi.org/10.1159/000540419).",
"gender": "Male"
}
] |
PMC11324272
|
[
{
"age": 57,
"case_id": "PMC10859126_01",
"case_text": "We present the case of a 57-year-old female with HIV/AIDS not taking her HIV medications and polysubstance use, specifically crack cocaine and alcohol, who presented to the emergency department (ED) complaining of shortness of breath, cough and yellow sputum for a few months, along with epigastric pain and non-radiating chest pain which worsened with cough. The patient had prior hospitalizations for similar symptoms but left against medical advice multiple times. On review of systems, the patient acknowledged night sweats, weight loss, generalized weakness, pleuritic chest pain, dyspnea on exertion, dysphagia, and odynophagia.\nInitial vital signs were blood pressure of 118/78 mmHg, heart rate of 64 bpm, temperature of 97.2oF, and oxygen saturation of 98% on room air. The physical exam was positive for oral thrush and epigastric tenderness. The chest x-ray showed right lung opacities, which were interpreted as \"most likely early multifocal pneumonia.\" CT chest without contrast reported \"interval development of branching opacities (tree-in-bud) and pleural-based areas of consolidation in the right upper and lower lobe suggestive of pneumonia superimposed on chronic interstitial changes\" (Figure 1). Emphysematous changes and diffuse bronchiectasis were also seen.\nLaboratories were remarkable for normocytic anemia with hemoglobin of 8.9 g/dL, CD4 count of 8 cells/microL, acid-fast bacilli (AFBs) and polymerase chain reaction (PCR) for Mycobacterium tuberculosis were negative, serum 1,3-beta-D-glucan (Fungitell) was normal, influenza A was positive and procalcitonin was elevated. No leucocytosis or fever was recorded. \nThe patient was started on treatment for influenza with superimposed bacterial pneumonia and was being empirically treated for Candida esophagitis with fluconazole. Since there was no improvement in her dysphagia after several days of empiric treatment, esophagogastroduodenoscopy (EGD) was performed, which showed esophageal ulcers and an ulcerated lesion, both biopsied (Figure 2). Biopsy showed: \"scant cellular debris, unable to characterize due to limited size of the sample. No viral cytopathic effect is present in the submitted material. Single minute fragment of fibrous tissue with acute and chronic inflammatory aggregates, consistent with ulcer bed.\" Additionally, the fundoscopic eye exam did not show evidence of cytomegalovirus (CMV), and the endoscopic biopsy was negative for CMV, but the sample size was very small and a repeat endoscopy was needed. \nRespiratory symptoms improved and antibiotics were completed for seven days, and then bictegravir, emtricitabine, and tenofovir alafenamide (B/F/TAF) was started in the patient. Soon after initiation of B/F/TAF, the patient started having multiple episodes of hypoglycemia, for which dextrose 5% in water (D5W) had to be started. Initially, hypoglycemia was attributed to starvation as the patient was not eating due to dysphagia, but due to the severity of the episodes (capillary blood glucose (CBG) <20) further explanation was needed. A urinalysis was taken and showed 150 mg/dL of glucose, despite the patient never being hyperglycemic, so Fanconi syndrome was suspected. Fanconi syndrome was confirmed by a paradoxically high urinary phosphorus level in a patient with hypophosphatemia: fractional excretion of phosphate was 67% (below 20% is considered normal). B/F/TAF was immediately discontinued. \nThe patient persisted with severe dysphagia and was unable to tolerate oral feedings; therefore, in a joint decision with her, the decision to place a percutaneous gastrostomy (PEG) tube was made, and enteral feeding was started as per nutritional recommendations with hopes of weaning off D5W.\nA few days later, the patient developed melena; therefore, enteral feedings were stopped, pantoprazole was started, and D5W was switched to dextrose 10% in water (D10W). Hemoglobin decreased the same day from 8.5 g/dL to 5.7 g/dL, and the patient required multiple blood transfusions. EGD was repeated urgently, hemostatic spray was applied to esophageal ulcers and a duodenal ulcer Forrest IIa (Figure 3). That same night, partial parenteral nutrition (PPN) was started. \nBy the next morning, the patient had received approximately 300 g of dextrose between the combination of D10W and PPN and presented severe refeeding syndrome with severe hypophosphatemia, hypokalemia, and hypomagnesemia. She was transferred to the intensive care unit (ICU) for central line placement and aggressive repletion of these electrolytes. Subsequently, she had an increase in her oxygen requirements, from two liters nasal cannula to 15 liters non-rebreather mask. Chest x-ray then showed bilateral patchy opacities consistent with pulmonary edema (Figure 4), which could be attributed to the severe refeeding syndrome. Despite further measures, the patient continued to decompensate and died a few days later.",
"gender": "Female"
}
] |
PMC10859126
|
[
{
"age": 42,
"case_id": "PMC10875210_01",
"case_text": "A 42-year-old male, initially diagnosed with subclinical hypothyroidism while being assessed for male infertility in 2019, was put on a daily 100 mcg levothyroxine regimen. This treatment was effective, maintaining a euthyroid state. The patient also had hypertension, peptic ulcer disease, and gout, which were treated with amlodipine, esomeprazole, and allopurinol, respectively. The patient, a non-smoker and non-drinker, worked at a military installation and had a family history of hypothyroidism.\nIn 2022, after two years of stable thyroid function on levothyroxine, the patient presented to our facility with symptoms indicative of HT, such as palpitations and weight loss, despite the medication being halved to 50 mcg. Levothyroxine was discontinued when a thyroid function test showed undetectable thyroid-stimulating hormone (TSH) levels. The patient's clinical exam revealed tachycardia, a body mass index (BMI) of 34.4, and a diffuse nontender goiter, but no eye or skin abnormalities.\nSubsequent investigations confirmed the suspicion of GD. Laboratory results showed a TSH level of <0.01 mIU/L, with elevated free T4 at 24.4 pmol/L (Table 1). A positive anti-TSH receptor antibody and thyroid peroxidase antibody were present. Hematologic and biochemical parameters, including WBC, hemoglobin, platelets, and liver and kidney function tests, remained within normal ranges (Table 2).\nThe TC-99 thyroid scintigraphy reveals a notable diffuse homogeneous uptake of the thyroid gland accompanied by a decrease in background activity, consistent with GD (Figure 1). \nGiven the underlying autoimmunity and the potential for fluctuation between two spectra, the patient could pursue a definitive treatment, including radioactive iodine or thyroidectomy. However, the patient expressed a preference for initiating anti-thyroidal medication. The patient was administered suppressive medication consisting of a daily oral dose of 20 mg of carbimazole and propranolol. A follow-up conducted three months later revealed that restoring thyroid function to normal levels improved the patient's clinical condition.",
"gender": "Male"
}
] |
PMC10875210
|
[
{
"age": 48,
"case_id": "PMC10862989_01",
"case_text": "We describe the case of a 48-year-old woman with a history of iron deficiency anemia, referred to the nephrology department for hypertension and edema. She presented signs of nephrotic syndrome (proteinuria of 6.5 g/24h with hypoalbuminemia and hyperlipidemia) and nephritic syndrome (hypertension, microhematuria, and mild deterioration of renal function with creatinine of 1.59 mg/dL and eGFR according to CKD-EPI of 38 mL/min/1.73m2). She had no purpuric skin lesions. The immunological study showed a monoclonal IgM-lambda peak in serum (0.58 g/dL) and in urine, elevated IgM in serum (1,110 mg/dL) and low C3c levels (55 mg/dL, normal range 75 - 144 mg/dL) with C4 in the lower limit (10.8 mg/dL, normal range 10 - 40 mg/dL); autoimmunity studies, serology for hepatitis B and C, and HIV viruses and serum cryoglobulins were negative. \nRenal biopsy showed 15 enlarged glomeruli with nodular pattern, with massive eosinophilic deposits in capillaries, positive for PAS technique and negative for Masson and Jones staining. The areas without deposits showed increased cellularity and mesangial matrix, with polymorphonuclear leukocytes and monocytes, and focal images of double contours (Figure 1). Immunofluorescence (IF) showed fine and coarse granular deposits in capillaries and mesangium, with IgM (+++), IgA (+), C3 (++), C1q (+), kappa (+), and lambda (+++). Electron microscopy (EM) showed fibrillar material with microtubular foci in the intracapillary and subendothelial region, compatible with cryoglobulin deposits (Figure 2). The anatomopathological diagnosis was CGN. \nGiven these results, treatment with steroids 1 mg/kg/day was started to stop the immunological activity at the renal level, and the patient was referred to the hematology department for further evaluation. A body scan showed moderate pericardial effusion, no organomegaly, and no adenopathic involvement suggesting a lymphoproliferative process. \nThe BM aspirate showed a scanty lump and normal cellularity, with heterogeneous megakaryocytes, normal in number. The granulocytic series was correctly represented in all stages, without maturation arrest or significant dysplasia. The erythroid series was slightly decreased, without significant morphological alterations, with slightly increased lymphocytes (16%) without atypia, and without alterations in plasma cells or in the phagocytic mononuclear system. The BM biopsy showed a slight increase of lymphoplasmacytoid cells of interstitial distribution, in a percentage of less than 10%, with a slight restriction of lambda light chains by immunohistochemistry. In cell culture, all metaphases analyzed by GTG bands showed 46 chromosomes with normal female formula XX and no structural alterations. In the molecular biology of BM, lymphoid B clonality was detected in the CDR1 region of the IgH gene, and the pLeu265Pro mutation of the MYD88 gene was also detected, establishing the diagnosis of WD. \nWith the diagnosis of WD and given the aggressiveness of the disease manifestations at the renal level, it was decided to revaccinate against SARS-CoV-2 (the third dose of the vaccine due to the absence of humoral immune response after the two previous doses) and to initiate treatment with 2 cycles of bendamustine and later 4 cycles of bendamustine-rituximab. The evolution was remarkably satisfactory, with normalization of renal function and disappearance of nephrotic and nephritic syndrome (Table 1).",
"gender": "Female"
}
] |
PMC10862989
|
[
{
"age": 90,
"case_id": "PMC11021067_01",
"case_text": "A 90-year-old gentleman was referred to hospice care by the community Tissue Viability team within an English Healthcare Trust. The Tissue Viability team is responsible for managing complex, non-healing wounds, including those that are fungating. The gentleman's lesion is depicted in Figure 1 and demonstrates a fungating, ulcerated lesion predominantly of the left scalp with nuchal extension. Having significant past sun overexposure without protection, this gentleman had a vast history of 17 skin cancers, some of which had warranted plastic surgery such as ear reconstruction and nasal flaps. Following a diagnosis of MCC by Tru-Cut biopsy two years prior, the patient was given two options: Surgery with curative intent or palliative radiotherapy. Initially, surgery was elected, after which the patient received wide local excision and skull flap reconstruction. Histology revealed 35 mm MCC with a deep margin of 1 mm and a peripheral margin clear by over 5 mm, with evidence of lymphovascular invasion. In the present relapse of this disease, the patient is under palliative care.\nThe main symptom this gentleman had vis-a-vis his scalp lesion, now within a palliative setting, was 'indescribable' pain. This pain was particularly noticeable when the wound dressing was changed, a daily event that caused him severe trait anxiety. The episodic pain was depicted by him as nauseating, burning, and with radiation to the forehead; the oxycodone he was taking did not alleviate these symptoms whatsoever (and this oxycodone was reverted back to morphine following improvement in his renal function). This clinical picture had elements of nociceptive pain but also tension headache with the pathognomonic forehead radiation and associated anxiety. In addition, the patient also complained of leaking exudate from the wound dressing, which disrupted his daily activities and may have contributed to the pain.\nGiven the severe trait anxiety and tension-sounding headache, it was decided to prescribe anticipatory lorazepam; this was administered orally 30 min before wound dressing changes. Two days after the advent of this prescription, the patient reported less anxiety, absence of pain radiation to the forehead, and nausea relief.\nRegarding the patient's exudative leakage, the following wound dressing regime was masterminded by a specialist palliative care nurse. Table 1 summarises the methods with the intended purpose.\nFollowing the implementation of this wound dressing regime, which is depicted in Figure 2, the patient reported minimal exudative leakage. It is thought that the decreased exudate stagnation may have also contributed to the pain relief in this gentleman.\nIt would be prudent to mention this gentleman's other concerns, including how his social, psychological, and spiritual well-being was looked after at this hospice. From a broad, non-specific perspective, this hospice was adapted to provide personable care: It had its hairdresser, rooms that opened onto patios, well-being rooms, a multi-faith centre, and were often frequented by a cat (which many patients reported as therapeutic). Notwithstanding such amenities, it was important to examine this gentleman's well-being. His appearance was unwaveringly well-kempt, and he did not exhibit any stigmata of disease when his dressing was on; his engagement and rapport in our interchanges were positive and undistracted, although sometimes affected by hearing deficit. His tone, volume, and fluency of speech were good and noticeably improved following improvements in the quality of his care. It is vital to note that this gentleman's perception was affected by nocturnal pseudo-hallucinations, but these disappeared after stopping the oxycodone. The patient described how being in the hospice eased the burden off his shoulders in terms of wound care, and he described the staff as 'very reassuring and well-prepared.' He was accompanied by a relative at most times, who provided turf for social interaction and indubitably improved this gentleman's psychological well-being. While no metric for patient-reported outcomes measures (PROMs) was utilised per se, we would subjectively assess this patient's well-being to have been on a positive trajectory, although we are aware that this migratory wound might pose a significant challenge in this patient's future care.",
"gender": "Male"
}
] |
PMC11021067
|
[
{
"age": 67,
"case_id": "PMC10467160_01",
"case_text": "A 67-year-old woman was referred to the Dermatology clinic in November 2021 with a 1-month history of three progressing painful ulcers on the abdomen. Past medical history was significant for seronegative arthritis, hypertension, hypothyroidism, bipolar disorder, cerebrovascular accident as well as celiac disease associated with dermatitis herpetiformis that was in remission. The patient was taking leflunomide, levothyroxine, valsartan, amlodipine, hydromorphone, lorazepam, quetiapine and vitamin D.\nThe patient reported that the ulcerations first developed after a mild trauma. Skin examination showed three round fibrinous ulcers (0.5-0.8 cm) involving the right lower abdomen. She was started on clobetasol 0.05% cream daily. Skin biopsies for pathology and tissue cultures were obtained. The histopathology was nonspecific and showed no signs of vasculitis, neoplasm, viral inclusions or any findings suggestive of pyoderma gangrenosum. Tissue cultures were negative for atypical mycobacteria and subcutaneous mycosis. Bacterial tissue culture showed Staphylococcus epidermidis that was treated with a 10-day course of oral cefadroxil 500 mg with minimal improvement. Topical steroid was discontinued and switched to fusidic acid ointment with foam dressings.\nBy March 2022, the three initial ulcers had healed. However the patient developed approximately 10 new round ulcerations (0.5-1 cm) involving the inframammary folds and abdomen. Subsequently, new ulcerations appeared in the left groin and some abdominal ulcers increased in size despite the use of fusidic acid ointment and hydrocolloid dressings (Figure 1). Given that the histopathology was nonspecific and that the ulcerations showed a geometrical configuration, a factitious etiology was considered.\nIn August 2022, new ulcers developed on the buttocks whereas some ulcerations on the abdomen healed. An extensive workup was performed which included a complete blood count, complements C3 and C4, immunoglobulins (IgG, IgM, IgA), antineutrophil cytoplasmic antibodies, antiphospholipid antibodies, serum protein electrophoresis as well as lymphocyte count that were all within normal limits. Erythrocyte sedimentation rate was slightly elevated (29) in the setting of seronegative arthritis. C-reactive protein value was normal (6,9). A second biopsy was performed on the edge of an abdominal ulceration which showed lymphohistiocytic inflammation with few neutrophils, spongiosis of the epidermis, acanthosis and Gram-positive cocci in the corneal layer.\nThe patient was referred to the ulcer clinic for a second opinion in September 2022. The ulcers on the left abdomen, left thigh and buttocks were still present (Figure 2). At this point in time, leflunomide was suspected as a potential culprit which was taken by the patient since 2008. It was stopped in April 2019 given that the arthritis was in remission and was subsequently resumed at a dose of 20 mg per os daily in August 2019 for arthritis reactivation. Leflunomide was stopped in September 2022 with the treating rheumatologist and local wound care was continued. At follow-up in December 2022, the ulcers on the abdomen and the buttocks were almost healed (Figure 3) and the ones on the left thigh were completely reepithelialized. We concluded that the patient's ulcerations were induced by leflunomide.",
"gender": "Female"
}
] |
PMC10467160
|
[
{
"age": 60,
"case_id": "PMC10834148_01",
"case_text": "A 60-year-old male developed a collar button abscess affecting his right third webspace with the abscess and associated cellulitis involving the dorsal soft tissue extensively. While he was diabetic, he did not recall any penetrating trauma. He underwent multiple surgical debridements from both volar and dorsal approaches. The volar wound was closed primarily; however, the dorsal approach for debridement resulted in a soft tissue defect over the dorsum of the proximal phalanx of the ring finger exposing the extensor tendon. The defect measured approximately 1.5 cm x 3 cm and could not be closed primarily (Figure 1).\nIn planning for flap coverage of this defect, the options considered were a reverse cross-finger flap from the adjacent middle finger, a first dorsal metacarpal artery flap, a dorsal metacarpal artery perforator flap, as well as the bilobed flap described below. A reverse cross-finger flap would have required a second surgery for division of the flap as well as skin grafting over the transposed adipofascial flap. A first dorsal metacarpal artery flap was also considered; however, with the pivot point being at the proximal first webspace, it was uncertain if the flap would cover the most distal end of the defect and would have required skin grafting of the donor site defect. Lastly, while a dorsal metacarpal artery perforator flap was considered, it was uncertain if prior surgical debridement would have compromised the perforator. Hence, a bilobed flap was chosen to achieve closure of this wound owing to its simplicity, lack of a need for skin grafting of any donor site, and the single-staged nature of the flap. The primary lobe of the flap was designed over the dorsum of the right middle finger proximal phalanx. This was of a similar size to the defect and at approximately a 30 angle. The secondary lobe was designed over the radial half of the dorsum of the proximal portion of the proximal phalanx of the right index finger (Figure 2). The secondary lobe was slightly narrower than the primary lobe and at a 60 angle from the defect. The flap was raised using a combination of sharp dissection and electrocautery under tourniquet control with care to leave the paratenon over the extensor tendons of the index and middle fingers. The tourniquet was released to confirm adequate perfusion of the flap. The flap was then transposed and sutured with fine non-absorbable sutures. The skin flaps were undermined to permit the primary closure of the secondary defects.\nThe patient was permitted to commence active range of motion exercises immediately. The flap healed uneventfully. At two months postoperatively, the patient resumed manual labor. The flap healed well and the patient was able to make a full fist and fully extend all fingers (Figure 3).",
"gender": "Male"
}
] |
PMC10834148
|
[
{
"age": 11,
"case_id": "PMC10800587_01",
"case_text": "An 11-year-old boy was admitted to our emergency department with severe acute back pain after being struck in a car accident while wearing a seat belt. The patient had no neurological, motor, or sensory abnormalities and was admitted to the hospital with a diagnosis of flexion-distraction injury at the L1-2 and L2-3 levels with compression of Fx L2-5 in x-ray and 3-Dismension computed tomography (CT) (Fig. 1). The hematoma was located in the deep subcutaneous layer of the lower back at the T12-L4 level. Magnetic resonance imaging (MRI) revealed stripping of the supraspinatus ligament around the L2 spinous process, a finding that necessitates surgical intervention to address ligamentous injuries and stabilize the spine (Fig. 2). Intraoperative findings were significant, including rupture of the L1-2 interspinous and supraspinous ligaments and L2-3 interspinous and yellow ligaments (Fig. 3). The surgical team proceeded with urgent posterior fusion employing pedicle screw fixation at the L1-2-3 levels, supplemented with an allograft bone graft to promote spinal fusion and stability. The patient underwent an urgent posterior fusion with a pedicle screw at L1-2-3 and bone allograft (Fig. 4).\nThe patient mentioned minimally invasive treatment as a consideration. However, owing to the patient's adolescent age, concerns regarding repeated radiation exposure through C-arm X-rays steered the decision to perform open surgery. This decision aimed to mitigate any potential adverse effects of radiation exposure on the patient's immature skeletal system. Postoperatively, patient recovery was closely monitored. Three days after surgery, ambulation was initiated with the support of a thoracic-lumbar-sacral orthosis (TLSO). This support was discontinued three months postoperatively, indicating satisfactory spinal healing and stability. At the initial visit, the patient reported abdominal pain, which prompted a comprehensive abdominal and pelvic CT scan; however, the scan results revealed no abnormalities. Further postoperative follow-up examinations confirmed no abnormalities in the internal organs, indicating a positive surgical outcome and recovery trajectory in the young patient.",
"gender": "Male"
}
] |
PMC10800587
|
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