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{
"age": 22,
"case_id": "PMC8287412_01",
"case_text": "A 22-year-old female is not known to have chronic medical illnesses. Presented to the emergency department with epigastric pain and vomiting for a couple of days with no similar presentation before. Thoroughly investigated by gastroenterologist and labeled as dyspepsia after gastroscopy. Found to have persistently high platelet count ranging between 600 and 900 x 10%uL level for 4 years duration. Referral to hematology service was done for further investigation.\nPatient had thrombocytosis since 2015, had no history of thrombosis or bleeding, and no history of significant weight loss. She has no risk factors for Coronary Vascular Disease. Has positive family history of myeloproliferative disease in her aunt who was diagnosed recently to have high-risk ET with positive CALR gene mutation.\nOn examination, the patient looks well, not pale, jaundiced, or cyanosed. Blood pressure was 113/53 mm Hg, temperature was 36.6 C, pulse was 85 beats per minute, respiratory rate was 19 per minute, and oxygen saturation was 100% on room air. There was no lymphadenopathy. Respiratory system and cardiovascular system examination was unremarkable. Abdominal examination was negative for any masses or organomegaly. Grossly intact neurological examination was carried out. In lower limbs, there is no edema or evidence of deep veins thrombosis clinically.\nInitial investigations showed hemoglobin of 12.7 g/L, white blood cell (WBC) of 6.08 x 10/uL, platelets of 680 x 10%uL with normal mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). Reticulocytes count was 1.39%. Liver panel and renal panel were within normal, lactate dehydrogenase (LDH) was 163 U/L, aspartate aminotransferase (AST) was 15.2 U/L, total bilirubin was 6 umol/L, and direct bilirubin was 2 umol/L. Partial thromboplastin time (PTT) was 31.9 and international normalized ratio (INR) was 1.13. Ferritin was 20.8, iron was 10 which is the borderline level, as per our reference range, and total iron binding capacity (TIBC) was 66. Peripheral Blood Film showed normochromic normocytic red blood cells picture with normal weight blood cells count and morphology, platelets were increased in distribution, and no blast or abnormal cell was seen. Ultrasound abdomen showed no organomegaly, spleen measures were 9.5 cm, and liver measures were 12.6 cm, otherwise unremarkable scan.\nBone marrow examination showed increased megakaryocytes with no increased in blast cells or dysmorphic cell and no fibrosis (Figure 1). Flow cytometry showed normal study with no signaling that indicated the presence of any active hematological malignancy. Cytogenetic study for BCR/ABL gene mutation showed negative test for any mutation, and no mutation was detected in JAK2 gene, Exon 12 and 14, as well as CALR and MPL genes. Extended cytogenetic and molecular study showed TET2 (c.3813C>T) mutational burden 45%. Other genes such as ASXL1, CBL, DNMT3A, EZH2, IDH1, RUNX1, SF3B1, SRSF, TP53, UAF1, and ZRSR2 were not mutated.\nHence, the patient was labeled as very low-risk triple negative:TET2 positive:ET and she was advised to increase fluid intake, her iron deficiency was treated, and to maintain on prophylaxis, aspirin 81 mg was given per oral once daily. Since then, she is on follow-up with hematologist for any progress in her condition. She had no further admissions for any reason since then.",
"gender": "Female"
}
] |
PMC8287412
|
[
{
"age": 83,
"case_id": "PMC6369501_01",
"case_text": "A 83-year-old woman presented with a visual acuity of light perception in the left eye for four years. The patient underwent detailed ophthalmological examinations including slit-lamp biomicroscopy, intraocular pressure measurement (applanation tonometry), dilated fundus examination (+90 D), and B-scan ocular ultrasonography. On initial examination, visual acuity was 0.2 (Snellen equivalent) in the right eye and light perception was in the left eye. Slit-lamp biomicroscopy revealed left hard brown cataract and right pseudophakia. Specular microscopy was within acceptable limits (cell density >2000 cells/mm2, hexagonality >50%) in the left eye. Intraocular pressure measurements were normal bilaterally. Right fundus examination showed macular atrophic changes. However, dense cataract did not allow a detailed fundoscopic evaluation in the left eye. B-scan ocular ultrasonography revealed no retinal detachment or intraocular mass.\nPhaco surgery was performed under retrobulbar anesthesia due to poor patient compliance. A 2.75 mm superior clear corneal incision was created, and anterior lens capsule was stained with trypan blue dye. Central part of the anterior lens capsule was punctured with a cystotome following OVD injection into the anterior chamber (AC). A continuous curvilinear capsulorhexis was created. Two corneal side port incisions were made using a 20-gauge blade two clock hours away from the superior corneal incision. After hydrodissection, central vertical groove was formed, and nucleus was cracked into two halves (Figures 1(a) and 1(g)). Using the phaco needle, core nucleus (which is the rock-hard part of the lens) of the two halves was hollowed sideward in the capsular bag (using low vacuum (linear increment with an upper limit of 80 mmHg) and power (linear increment with an upper limit of 80% torsional amplitude) settings) (Figures 1(b) and 1(h)). A dispersive OVD was injected into the AC to protect corneal endothelium. The nuclear halves were removed from the capsular bag using the phaco tip, and each half was pushed to one side on the iris plane with assistance of OVD (Figures 1(c) and 1(i)). Capsular bag was inflated with OVD, and a foldable IOL was implanted (Figures 1(d) and 1(j)). Thus, posterior capsule moved backwards and got fully secured. Then, nuclear halves were chopped into small pieces and removed as far as possible from the corneal endothelium, which is also protected by dispersive viscoelastic (Figures 1(e), 1(f), 1(k), and 1(l)). After nucleus removal, the remaining cortical material and OVD were aspirated with bimanual irrigation/aspiration (I/A). Corneal incisions were hydrated, and intraocular antibiotic injection was performed.\n Video 1 demonstrates the steps of the phaco surgery.\nAt first day postoperatively, biomicroscopic examination revealed normal findings except grade 2 corneal edema in the left eye. At 1-week control visit, corrected visual acuity was 0.7 (Snellen equivalent), cornea was clear, and minimal macular atrophic changes were present in her left eye. Postoperative control specular microscopy was planned at 1-month visit, whereas the patient was out of follow-up.",
"gender": "Female"
}
] |
PMC6369501
|
[
{
"age": 68,
"case_id": "PMC8728800_01",
"case_text": "Ectopic adrenal gland tissue is induced by small fragments of the adrenal cortex originating from the ectoderm during the course of invasion into the central vein during adrenal gland development, and was first reported by Morgani in 1740. According to the embryological process of this tissue, it is mainly observed in the spermatogenic cord region and the retroperitoneum, but it is rarely observed in the ovary, broad ligament, testis, stomach, and liver. The incidence rates according to the location of the ectopic adrenal gland tissue reported in other papers are presented as follows: celiac axis area (32%), broad ligament (23%), kidney (0.1%-6%), and adnexa of the testis (7.5%). This tissue is mainly observed in male children with a probability of approximately 50%, and it is rarely observed in adults, especially in women, because it becomes atrophied by the normal function of the adrenal glands in adulthood. It is usually asymptomatic, and most cases are diagnosed incidentally as a result of groin surgical exploration in children and other surgical treatments for other purposes in adults. Furthermore, an ectopic adrenal gland tissue tends to be observed more on the right side than on the left, and it is rare on both sides. We report a rare case of ectopic adrenal gland tissue observed in the left ovary of a 68-year-old female.",
"gender": "Female"
},
{
"age": 68,
"case_id": "PMC8728800_02",
"case_text": "Patient information: a 68-year-old multiparous (gravida 2, para 2) woman presented with a bearing down sensation due to uterine prolapse grade III that lasted for 5 years. At the time the patient was first diagnosed with uterine prolapse, she had a follow-up observation at a local hospital after a pessary was inserted, but she visited this hospital for surgical treatment. Past medical history of hypertension was reported. She was taking medications due to hypertension, and her blood pressure was well controlled.\nClinical findings: as a result of physical examination, there was no palpable mass in the lower abdomen area, and there was no tenderness at all. As a result of gynecology examination, there were no specific findings other than grade III uterine prolapse.\nDiagnostic assessment: a transvaginal sonographic evaluation revealed a 0.69 cm intramural-type uterine myoma, and no other lesions were observed on both adnexa.\nTherapeutic intervention: the symptoms of the patient s uterine prolapse were causing discomfort in her daily life. As she was post-menopausal, her ovaries were no longer producing female hormones. For these reasons, the patient agreed to a prophylactic bilateral salpingo-oophorectomy during hysterectomy. Although no ovarian lesions were present, neither of the ovaries were functional and there was a risk that lesions such as ovarian malignant masses may develop later. Therefore, the patient underwent laparoscopic hysterectomy with prophylactic bilateral salpingo-oophorectomy as well as anterior and posterior repairs. The surgically removed uterus, bilateral ovaries, and fallopian tubes were sent to the pathology department for histological analysis.\nOn section, the cut surface showed intramural leiomyoma and both adnexa were unremarkable, grossly. Microscopic examination revealed 0.3x0.2x0.2 cm sized ectopic adrenal tissue in the left ovary. The tissue consisted of pale cells with spongy-appearing cytoplasm and polygonal cells with acidophilic granular cytoplasm, which is reminiscent of zona fasciculata and zona reticularis of the adrenal cortex (Figure 1A, Figure 1B). The ectopic tissue was reactive for inhibin-A and Melan-A, which favored the diagnosis of ectopic adrenal tissue (Figure 1C, Figure 1D). The final pathological diagnosis was leiomyoma and ectopic adrenal tissue on the left ovary. She was discharged on the seventh day after the surgery.\nFollow-up and outcome of interventions: the patient presented with no complications six months after surgery.\nInformed consent: the patient consented to the publication of a case report containing her clinical data; because her case was rare, and she wanted to be helpful in the treatment of such a case in the future.",
"gender": "Female"
}
] |
PMC8728800
|
[
{
"age": 60,
"case_id": "PMC5985244_01",
"case_text": "Our patient was a 60-year-old woman with a previous medical history of primary hyperparathyroidism. She was studied in another hospital, where three years before she had hypercalcemia detected in routine laboratory and underwent a left parathyroidectomy (one gland). Histopathological examination of the gland showed \"benign parathyroid tissue\".\nIn a routine control by her family doctor, hypercalcemia with persistent hyperparathyroidism was detected and she was referred to our hospital two years after surgery. She complained of bone disease (osteoporosis), hypertension, constipation, and neuropsychiatric symptoms (irritability and depression). She had no family history of hypercalcemia or metabolic diseases. Physical examination did not reveal any palpable neck masses.\nLaboratory data showed increased serum concentrations of parathyroid hormone (PTH; 301 pg/mL [normal range, 15-65 pg/mL]) and calcium (2,8 mmol/L [normal range, 2.09-2.42 mmol/L]), phosphorous 0.88 mmol/L (normal range, 0.87-1.45 mmol/L), albumin 5.12 g/dL (normal range, 3.5-5.0 g/dL), magnesium 0.9 mmol/L (normal range, 0.6-1.1 mmol/L). Serum levels of 25-hydroxyvitamin D, creatinine and urea were within normal range.\nA neck ultrasonography had been performed, which revealed a thyroid nodule on right lobe with 22 mm and an enlarged nodule (35 mm) on the posterior face of the left thyroid lobe.\nThe computed tomography (CT) scan of the neck revealed a heterogeneous mass with approximately 5 cm in diameter, located posterior to the left inferior pole of thyroid gland and extending to the mediastinum - adenoma versus PTC. A 99mSestamibi-CT scan confirmed increased uptake in the topography of left inferior PT, corresponding to CT scan findings. Therefore, the patient was referred for formal cervical exploration with parathyroidectomy. At surgery, the inferior left PT was a polycystic gland of about 5 cm, adherent to the posterior face of left thyroid and close to the esophagus. The gland was easily dissected from esophagus and en bloc removal of the gland with the left thyroid lobe and all involved tissue was performed. The left recurrent nerve was free of disease. There was no gross involvement of regional lymph nodes. A decrease of serum levels of intact PTH of 81% was observed 10 min after removal of the PT (final value of 53 pg/mL). Both superior and inferior right PT had normal size and shape and were preserved.\nPathological examination of the PT revealed, on gross inspection, a hard mass measuring 6.5 x 4 x 2.5 cm and weighting 26 g. The cut surface was mostly occupied by a heterogeneous whitish nodule, with hemorrhagic and cystic areas. Microscopically, the PT was occupied by a partially encapsulated nodular tumor, with trabecular and pseudo follicular solid pattern. It was composed of uniform cells which variated in size and shape, and areas of thick fibrous bands. It had a low mitotic index (less than 2 mitoses per 10 high-power fields). There was partial capsular invasion with extension to the thyroid and cervical soft tissues. There were also some images that suggested neural and vascular invasion. Based on these findings the diagnosis was a PTC. Free margins (less than 1 mm) were found.\nPostoperatively, the patient did well, without complication. In the first day after the surgery, PTH and serum calcium had returned to normal levels, 40 pg/mL and 2.28 mmol/L, respectively. She was discharged home uneventful at the 7th postoperative day.\nAt 12-month follow-up, the patient is asymptomatic with normal serum calcium.",
"gender": "Female"
}
] |
PMC5985244
|
[
{
"age": 0,
"case_id": "PMC7652926_01",
"case_text": "As detailed above, the amino acid sequence of ACE-2 is a determining factor of the host species range affected by SARS-CoV-2. During the search for an animal model of COVID-19, bioinformatic predictions and previous studies with SARS-CoV-1 indicated that non-human primates, ferrets, hamsters, and domestic cats were possible animal candidates to be explored. Accordingly, experimental SARS-CoV-2 infection and clinical sign development have been successfully accomplished in non-human primates, ferrets, and golden Syrian hamsters (Mesocricetus auratus). Experimental infection was also successful in cats, but the animals developed no clinical signs. In dogs, the intranasal inoculation of SARS-CoV-2 in 3-month-old beagles resulted in only two out of four experimentally infected animals developing neutralizing antibodies and no detectable viral RNA in organ tissues of one euthanized animal 4 days postinfection. Viral RNA was sporadically detected in the feces of these dogs a few days postinfection. This same study shows that experimental infection of SARS-CoV-2 was not successful in pigs, ducks, and chickens. Taken together, these results raise the possibility that companion animals, particularly cats and hamsters, may get infected with SARS-CoV-2 outside experimental laboratory conditions. As previously shown in a review on cell, tissue, and animal models for SARS-CoV-2 infection, non-human primates may be used for human clinical tests, while primary cell culture, primary tissue explants, and organoids may be applied for other human and animal approaches.\nWith millions of people detected with SARS-CoV-2 worldwide, reports of companion animals possibly infected with the virus started to emerge. These animals were frequently owned by individuals with confirmed or suspected SARS-CoV-2 infection, raising concerns that an anthropozoonotic transmission occurred. Therefore, our aim is to review reported cases of animals naturally infected with SARS-CoV-2, particularly companion pets, shedding light on the role of these animals in the epidemiology of COVID-19.\nMembers of the Coronaviridae family have a positive-sense single-stranded RNA genome varying from 26 to 32 kilobases, the largest viral RNA genomes ever described. CoVs are enveloped viruses and identified in several species of birds and mammals, including humans. The Coronaviridae family is composed of two subfamilies (Letovirinae and Orthocoronavirinae) and four genera (Alphacoronavirus, Betacoronavirus, Gammacoronavirus, and Deltacoronavirus) found in the subfamily Orthocoronavirinae. The organization and expression of their genome are very similar, with 15 to 16 non-structural proteins (nsp1 to nsp16, with nsp1 being absent in Gammacoronavirus), codified by ORF1ab at the 5' end, and four to six structural proteins, hemagglutinin-esterase (HE, found in some betacoronaviruses) spike (S), envelope (E), membrane (M), and nucleoprotein (N), which are codified by ORFs at the 3' end of the genome.\nIn humans, CoVs primarily cause infections of the upper respiratory and gastrointestinal tracts, with clinical manifestations ranging from asymptomatic to severe or lethal. Seven CoV strains are able to infect humans: HCoV-NL63, HCoV-229E (Alphacoronavirus), HCoV-OC43, HCoV-HKU1, SARS-CoV-1, MERS-CoV, and more recently, SARS-CoV-2 (all these in the Betacoronavirus genus). HCoV-NL63, HCoV-229E, HCoV-OC43, and HCoV-HKU1 are distributed globally, with seasonal and geographic variations. These are low-pathogenic CoVs associated with a variety of mild upper respiratory tract infections, occasionally affecting the lower respiratory tract, leading to pneumonia, bronchiolitis, or both. Nonetheless, in the last two decades, highly pathogenic, zoonotic CoVs emerged. These are SARS-CoV-1, which emerged in China in 2002; MERS-CoV, which was first detected in Saudi Arabia in 2012; and SARS-CoV-2 identified in China in 2019. These CoVs are highly pathogenic and may cause lethal disease, with variable mortality rates of about 10% for SARS-CoV-1, 34% for MERS-CoV, and from 1 to 7% for SARS-CoV-2. The epidemic of SARS-CoV-1 affected 26 countries, and more than 8,000 cases were reported, while MERS-CoV was identified in 27 countries, with more than 80% of the 2,494 cases reported in Saudi Arabia. Currently, SARS-CoV-1 is not detected in any region of the world, and MERS-CoV cases are sporadically reported in Saudi Arabia. SARS-CoV-2, on the other hand, is currently at epidemic peaks in many regions, with exponential growth of case numbers and fatalities globally.\nCoronaviridae species affecting host species other than humans have been reported, causing respiratory, gastrointestinal, liver, kidney, or neurological diseases in a variety of domestic and wild animals, with no human infection by these coronaviruses ever reported. Among companion animals, canine coronavirus (CCoV) and feline coronavirus (FCoV) belong to the species Alphacoronavirus 1 with two serotypes (I and II), each occurring as either a low-virulence biotype that causes mild to silent enteric infectious and high-virulence, pantropic biotypes in dogs (a CCoV-IIa lineage) and cats (feline infectious peritonitis virus). In addition, a betacoronavirus named canine respiratory coronavirus has been associated with respiratory disease in dogs.\nAmong large animals, calves and adult cattle are susceptible to enteric and respiratory disease after infection by bovine coronavirus (a Betacoronavirus), while another betacoronavirus, equine coronavirus, has been associated with enteric disease in horses. Avian coronavirus (a Gammacoronavirus) has chickens as a natural host, infecting the trachea, lungs, kidneys, reproductive tract, and intestines in broilers, layers, and breeders with a wide range of serotypes. Moreover, swine acute diarrhea syndrome coronavirus (SADS-CoV), first reported in 2017, together with porcine epidemic diarrhea virus (PEDV) and transmissible gastroenteritis virus (TGEV) are alphacoronaviruses that cause highly lethal enteric disease in pigs. Porcine deltacoronavirus (PDCoV) and the betacoronavirus porcine hemagglutinating encephalomyelitis virus (PHEV) also use pigs as hosts.\nTo understand how certain domestic animal species may be infected with SARS-CoV-2, it is crucial to investigate the underlying reason for the ability of the virus to enter host cells and establish infection. Current knowledge of the SARS-CoV-2 pathogenesis indicates that such event is made possible by the interaction between SARS-CoV-2 and the host ACE-2 protein, which acts as a receptor for viral adherence and membrane fusion. Supplementary Data and Table 1 show a multiple protein sequence alignment of ACE-2 of human, main domestic, and laboratory animal species and cross-species identity of the 22 amino acids of ACE-2 that physically interact with SARS-CoV-2, respectively. Among putative pet animals, golden Syrian hamsters, cats, and rabbits diverge in only 3 of the 22 amino acids of ACE-2 responsible for the interaction with SARS-CoV-2, while dogs diverge in five amino acids (Supplementary Data and Table 1). However, the whole-protein sequence of ACE-2 of golden Syrian hamsters showed higher sequence similarity and phylogenetic relatedness to human ACE-2 than the rabbit and cat ACE-2 (Supplementary Figure 1). Whether at the whole-protein level or at the 22 interaction-defining amino acids, this sequence may be determinant of a successful infection, along with the expression of ACE-2 protein in different tissues and yet to be unraveled alternative receptors of SARS-CoV-2 in host cells. The link between structural properties of ACE-2 orthologs to SARS-CoV-2 spike protein has been already investigated. In this study, non-conservative mutations in several ACE-2 amino acid residues have been associated with interrupted key polar and charged viral spike protein contacts, which may decrease the susceptibility to SARS-CoV-2 infection across different animal species. In addition, structural analysis of amino acid residues has suggested that changes in amino acid positions 30 and 83 may affect structural interaction of ACE-2 and SARS-CoV-2 RBD, differentiating non-susceptible from susceptible species.",
"gender": "Unknown"
},
{
"age": 17,
"case_id": "PMC7652926_02",
"case_text": "The first report of SARS-CoV-2 infection in dogs occurred in Hong Kong, China, by the Hong Kong Agriculture, Fisheries, and Conservation Department (AFCD) (Table 2). A 17-year-old male Pomeranian with several comorbidities was asymptomatic and quarantined on February 26, 2020, after its owner was diagnosed with COVID-19. On March 18, an asymptomatic 2.5-year-old male German shepherd dog tested positive for SARS-CoV-2 by RT-qPCR in nasal and oral swabs; the two dogs had detectable antibodies against SARS-CoV-2. In addition, viral sequences were identical to the virus identified in the respective owner cases, suggesting human-to-animal transmission. On June 1, in the Netherlands, neutralizing antibodies against SARS-CoV-2 were detected in an 8-year-old American bulldog with breathing distress, with a COVID-19-positive owner. The animal was euthanized due to clinical worsening. In New York State, Richmond County, USA, two dogs tested positive to anti-SARS-CoV-2 antibodies. One dog showed signs of respiratory illness and severe lethargy associated with hemolytic anemia. The other dog was asymptomatic. The owner of the two dogs tested positive for COVID-19. Both dogs are recovering. In May 2020, a 7-year-old male German Shepherd tested positive for SARS-CoV-2 by RT-qPCR, after 6 weeks with breathing distress. On July 11, 2020, the animal died with a diagnosis of lymphoma, which may have been a confounding cause for the respiratory signs.\nAlso, in Hong Kong, nasal and oral swab and fecal samples from a clinically healthy cat tested positive for SARS-CoV-2 by RT-qPCR. The owner had been hospitalized with COVID-19. Until April 15, 2020, the Hong Kong Agriculture, Fisheries, and Conservation Department tested 17 cats from guardians positive for COVID-19, and only the cat mentioned above was positive. In mid-March 2020, in Belgium, viral RNA from SARS-CoV-2 was detected in samples of vomit and feces of a cat with diarrhea, vomiting, and dyspnea, using RT-qPCR. Despite the animal's guardian being infected with COVID-19, it was not possible to establish the level of identity between the genomic sequences of SARS-CoV-2 present in the cat and human. This cat showed clinical improvement 9 days after the onset of symptoms.",
"gender": "Male"
},
{
"age": 5,
"case_id": "PMC7652926_03",
"case_text": "On April 22, the OIE, the Centers for Disease Control and Prevention (CDC), and the United States Department of Agriculture (USDA) reported that two cats from the New York I State in the USA, both presenting sneezing and nasal discharge, tested positive for SARS-CoV-2 by RT-qPCR. One cat is a 5-year-old Devon Rex, from Orange County, and the owner was positive for COVID-19. The clinical signs in the cat appeared after the owner showed COVID-19-compatible symptoms. Another cat in the same household remained asymptomatic but was not tested for the presence of the virus. The second positive 4-year-old cat was from Long Island (Nassau County) with outdoor access. The animal has presented respiratory signs and lethargy and tested positive to SARS-CoV-2 RNA by quantitative RT-PCR. Three of five households have shown clinical signs related to COVID-19 but were not tested, and the cat is presumed to have been infected by someone at home or by a virus carrier. The latest laboratory tests on the two cats have shown that they are clearing the infection and will likely have full recovery.",
"gender": "Unknown"
},
{
"age": 9,
"case_id": "PMC7652926_04",
"case_text": "On March 18, a case of a Belgian cat with a breathing problem, vomiting, and diarrhea was reported, with SARS-CoV-2 detected by RT-qPCR in vomit and feces samples. On April 17, a 9-year-old female cat of European breed from France was tested positive to SARS-CoV-2 RNA by RT-qPCR on a rectal swab. The animal showed clinical signs, such as anorexia, vomiting, and cough, 17 days after its owner has tested positive to COVID-19. Antibodies against SARS-CoV-2 have been detected in two serum samples taken 10 days separately. In addition, sequence analysis of cat SARS-CoV-2 has shown that it belongs to the phylogenetic clade A2a, similar to the French human SARS-CoV-2. In June, one cat from Minnesota and another one from Illinois, USA, tested positive for SAR-CoV-2, confirmed by USDA's National Veterinary Services Laboratories.\nIt is not surprising that cats develop clinical signs; SARS-CoV-2 penetrates the cell by binding to the ACE-2 receptor, and the ACE-2 receptor in cats has high homology with the human receptor, as shown above. The coronavirus that caused the SARS epidemic (SARS-CoV-1) in 2003 also uses the ACE-2 receptor to enter cells. Cats are susceptible to experimental infection with the SARS-CoV-1 and also became naturally infected during the SARS epidemic in 2003. Recently, cats were experimentally inoculated intranasally with high doses of SARS-CoV-2. The animals showed no clinical signs, developed neutralizing antibodies, and eliminated viral RNA in the feces. At necropsy, infectious virus was found in the nasal turbinates, soft palate, tonsils, trachea, and lungs. Experimentally infected cats transmitted the disease by air particles to susceptible cats. Moreover, an experimental study has shown that SARS-CoV-2 was transmitted by virus-inoculated cats to cats with no previous infection, after cohoused contact. After 24 days of inoculation, all the cats showed IgG antibody titers ranging from 5,120 to 20,480. Since no clinical signs were reported in this study, the authors speculate that cats may be a silent intermediate host of SARS-CoV-2.\nExperimental infection with SARS-CoV-2 is also possible in hamsters, ferrets, rhesus macaques (Macaca mulatta), cynomolgus monkeys (Macaca fascicularis), and African green monkeys (Chlorocebus sabaeus). Callithrix jacchus monkeys have been resistant to SARS-CoV-2 experimental infection, when compared with M. fascicularis and M. mulatta. Experimental studies with rhesus macaques have shown mild disease as frequently observed in human cases and suggest that primary SARS-CoV-2 infection protects against reinfection throughout early recovery days.\nIn hamsters and ferrets, transmission occurred to other susceptible animals by air. To date, there are no reports of natural cases of SARS-CoV-2 infection in hamsters or ferrets. The Hong Kong Agriculture, Fisheries, and Conservation Department tested two hamsters from guardians positive for SARS-CoV-2, and both were negative. Under experimental conditions, Syrian hamsters (M. auratus) have been successfully infected by SARS-CoV-2, and transmission between cohoused animals was observed by direct or indirect contact with blood, feces, saliva, and tears.",
"gender": "Female"
},
{
"age": 4,
"case_id": "PMC7652926_05",
"case_text": "On April 4, 2020, the US Department of Agriculture (USDA) announced that samples from a 4-year-old female Malayan tiger at the Bronx Zoo in New York City tested positive for SARS-CoV-2 by RT-qPCR. The swab samples were collected and tested after two Malayan tigers, three Siberian tigers, and three African lions showed respiratory signs for a week. On April 17, the OIE confirmed that one of the African lions tested positive for SARS-CoV-2 by RT-qPCR. Later on, all these animals and one asymptomatic Siberian tiger tested positive for SARS-CoV-2 by RT-qPCR of stool samples. The five positive tigers live separately in the same enclosure. The three lions live in an enclosure in another zoo area, and they occasionally interacted. The Bronx Zoo also has one Malayan tiger and two Siberian tigers living in a distant enclosure. These three tigers showed no clinical signs. SARS-CoV-2 was identified and characterized in a Malayan tiger. The seven symptomatic animals have improved and are expected to fully recover. In addition, SARS-CoV-2 characterization has shown distinct viral sources for tigers and lions, with similarities between tiger and zookeeper viruses suggesting human-animal transmission, but no identified viral source was found for the infection in lions.\nOn April 26, 2020, the Dutch Ministry of Agriculture, Nature, and Food Quality communicated SARS-CoV-2 outbreak in two mink (Neovison vison) farms, after respiratory disease and increased mortality. Infection by SARS-CoV-2 has been reported in minks on a farm with 13,000 minks. Additional infections were identified on a second farm with 7,500 adult minks. Three minks with gastrointestinal and respiratory signs were euthanized. Samples of manure, air, and dust collected from the vicinity of the farm are being tested for the presence of the virus. Cats from the farms will also be tested. At least one worker tested positive for SARS-CoV-2 in both farms. It is not surprising that minks are susceptible because they are from the same family (Mustelidae) as ferrets (Mustela putorius furo), and ferrets can be experimentally infected with SARS-CoV-2 and transmit the disease to other ferrets by direct or indirect contact. The infection in minks appears to be a case of human-to-animal infection, once viral sequences of two farms were related to human being sequences, but in separate introductions. In addition, since March 2020, rabbit farms near infected visons have been investigated by the Dutch Ministry of Agriculture, Nature, and Food Quality due to possible susceptibility to SARS-CoV-2.\nExperimental transmission study has shown that pigs (Sus scrofa) and chickens (Gallus gallus) were not susceptible to SARS-CoV-2, since none of the animals seroconverted and all samples were negative for viral RNA after intranasal inoculation. On the other hand, fruit bats (Rousettus aegyptiacus) have presented virus replication detected by RT-PCR, in situ hybridization (ISH), and immunohistochemistry (IHC) associated with mild rhinitis.",
"gender": "Female"
}
] |
PMC7652926
|
[
{
"age": 46,
"case_id": "PMC3085326_01",
"case_text": "A 46-year-old man with HIV and a history of cutaneous Kaposi's sarcoma presented with left eyelid droop and left-sided facial numbness five days after restarting antiretroviral therapy following a long hiatus. He was diagnosed with HIV 21 years prior and had a nadir CD4 cell count of 107. His CD4 cell count when he restarted his antiretroviral regimen was 159 cells/mm3, viral load 511,000 c/mL. He had been intermittently compliant with antiretroviral therapy in the past and since resumption of therapy. In 2005, he had a recurrence of Kaposi's sarcoma and received five cycles of paclitaxel with clinical remission by 2006. Physical examination was otherwise unremarkable at the time and magnetic resonance imaging (MRI) of the brain was read as having no significant abnormalities. His symptoms initially were stable, but in the subsequent two months, they worsened, with hypoesthesia and paresthesia over all three branches of the trigeminal nerve on the left, severe headaches, ataxia, dysarthria, and dysphagia. He also began to experience fatigue, weight loss, and night sweats. A repeat MRI revealed enhancing leptomeningeal masses with associated mass effect involving the trigeminal nerve, middle cerebellar peduncle, pons, and upper spinal cord. Review of his prior MRI showed a suggestion of enhancement of the left trigeminal nerve intradurally. \nA lumbar puncture revealed elevated protein (205 g/dL), slightly depressed glucose (45 g/dL), with 106 leukocytes (32% lymphocytes, 26% monocytes, and 42% unclassified cells), and no erythrocytes. Cerebral spinal fluid (CSF) cytology was notable for atypical appearing cells, which were suspicious for, but not sufficient for a primary diagnosis of malignancy (see Figure 2(a)). CSF flow cytometry demonstrated no clonal B- or T-cell populations, and IGH gene rearrangement was not detected by PCR. CSF PCR for EBV was negative.\nA bone marrow biopsy was unremarkable and core needle biopsy of a modestly enlarged retroperitoneal lymph node showed no evidence of lymphoproliferative disease. There was no evidence of pleural, peritoneal, or pericardial effusions on computed tomography and ultrasound studies. A positron emission tomography with computed tomography (PET/CT) was then performed and demonstrated increased uptake at the known cerebellopontine lesion, as well as in the posterior inferior wall and papillary muscle of the left ventricle of the heart (Figure 1). An endomyocardial biopsy of the left ventricle was performed via left heart catheterization. Pathology revealed large atypical discohesive cells infiltrating the myocardium. Immunostains of the atypical lymphoid cells were strongly KSHV+ (Figure 2), MUM1/IRF4+, CD79a rare+, CD20-. In situ hybridization for Epstein-Barr virus (EBV) using a probe for EBER showed no staining. Comparison with the CSF specimens showed that these atypical cells were morphologically similar to the suspicious cells in the CSF (Figure 2(a)).\nA preliminary diagnosis of large B-cell lymphoma was made based on morphologic appearance, and the patient was initiated on treatment with R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) along with intrathecal methotrexate, cytarabine, and hydrocortisone for the leptomeningeal disease. He was observed on telemetry for one week without cardiac ectopy and was discharged home. One day following discharge, he had syncope and was found to be in ventricular tachycardia with preserved blood pressure, for which he was treated with lidocaine and amiodarone with successful conversion to sinus rhythm. CD20 staining on his pathology returned negative and so treatment with cycle 2 was changed to EPOCH (etoposide, prednisone, vincristine, cyclophosphamide, and doxorubicin) without rituximab. High-dose systemic methotrexate was included to treat the CNS disease. Six weeks into treatment, restaging PET CT imaging showed no persistent FDG-avid disease of the heart, and MRI showing significant resolution of his intracranial tumor. Spinal fluid examination demonstrated no persistent circulating disease in the CSF. Clinically, his headaches, dysarthria, and dysphagia improved, but he still had numbness of his left face along the V1 and V2 distribution of the trigeminal nerve along with an upper motor facial nerve palsy on the left. Some residual gait ataxia was notable on examination.",
"gender": "Male"
}
] |
PMC3085326
|
[
{
"age": 14,
"case_id": "PMC5437796_01",
"case_text": "A 14-year-old boy presented with neck pain, progressive neck tilt, and spastic quadriparesis of 1 year duration. He had difficulty in swallowing and was bed ridden for 4 months. Examination revealed low hairline, torticollis, and severe spasticity with grade 3/5 power. The modified Japanese Orthopaedic Association score was 9/17 and breath hold time was 8 s.\nDynamic X-ray of cervical spine revealed AAD, absent spinous process of axis, and fused lower cervical spine. Computed tomography (CT) with three-dimensional reconstruction done showed occipitalization of atlas. Posterior arch of axis and transverse foramen were absent, C3 body was split into halves (butterfly vertebrae), and the posterior elements of C3 were not connected to the bifid body (floating). They were connected to the C4 facet alone. C4-C6 vertebral bodies were fused. C1-C2 joints were oblique [Figure 1]. CT angiography revealed anomalous course of vertebral artery. VAs were skirting along lateral surface of C2 body and turned posteromedially just short of superior facets of C2.\nThe patient was put on Crutchfield's tong traction starting with 7%-8% of body weight increased over a period of 24 h. Lateral cervical radiographs showed distraction with partial reduction. The patient was operated through midline posterior incision. Inferior surface of C1 arch traced and dissected to identify C1-C2 joints. Bilateral C2 root ganglia were transected to obtain a panoramic view of the C1-C2 joints. The anomalous VA was addressed appropriately, by dissecting and safeguarding it. C1-C2 joints were opened and drilled comprehensively to make them flat in sagittal and coronal plane. Spacers were inserted with bony chips taken from rib graft. C1 screws were inserted into lateral masses and C2 screws were directly inserted into C2 body just below C2 facets. Further manipulation of C1-C2 joints were manipulated using rod holder and loosely fastened rod to realign facets. The arteries were protected while drilling the C1-C2 joints and inserting the screws.\nPostoperatively, the patient improved neurologically with immediate relief from spasticity. Immediate postoperative scan revealed good reduction of the dislocation and was discharged after a week [Figure 2]. In the 2nd postoperative week, the patient came back with high-grade fever and tachypnea. Although his improved neurological status was maintained, the chest X-ray showed right lower lung showing pneumatic patch [Figure 3]. Repeat CT scan was obtained showing no construct failure. Unfortunately, the patient succumbed to Type 1 respiratory failure.",
"gender": "Male"
}
] |
PMC5437796
|
[
{
"age": 43,
"case_id": "PMC4267161_01",
"case_text": "B. L., a 43-year-old Caucasian female, was referred in 2007 to our service for thrombocytosis (1,000 x 109/L), discovered during a routine blood checkup. The patient was asymptomatic and there was no personal or familial history of thrombosis or hemorrhage. The full blood counts also revealed a mild leukocytosis (12 x 109/L), with a normal differential count, except for mild basophilia (0.24 x 109/L). The hemoglobin and the hematocrit were within normal range (140 g/L and 42%, resp.). The physical examination revealed no pathologic modifications. A bone marrow biopsy was also performed, revealing megakaryocyte hyperplasia. Thus, the diagnosis of ET was established. In 2008 the detection of the JAK2 V617F mutation became available in our institution, and a mutant allele burden around 25% was found in the patient. The patient was given initially acetylsalicylic acid (ASA) 150 mg/day. However, because the platelets continued to increase to values of around 1,500 x 109/L, the patient was subsequently started on anagrelide, 2 mg/day. Thereafter, the platelets dropped to normal values, with the patient remaining asymptomatic.",
"gender": "Female"
},
{
"age": 72,
"case_id": "PMC4267161_02",
"case_text": "Four years later, the father of the patient, P. T., a 72-year-old man, was referred to our service for thrombocytosis (1,100 x 109/L), discovered during a routine blood checkup. The blood counts and the peripheral smear revealed no other modifications. The physical examination was normal. The JAK2 V617F mutation tested negative at diagnosis, but other causes of thrombocytosis were ruled out. Thus, the diagnosis of ET was established. The patient was given 150 mg ASA and 1 g hydroxyurea/day. The platelets dropped to near normal values, with the patient remaining asymptomatic. Later, the diagnosis of MPL exon 10 and CALR exon 9 mutations became available in our institution. The patient lacked the CALR mutations, but he was found to harbor the MPL W515L mutation.\nWe genotyped in both patients also the rs10974944 SNP, which tags the JAK2 46/1 haplotype. Both of them were homozygous for the \"nonrisk\" C allele of the rs10974944 SNP. Thus, none of them carried the JAK2 46/1 haplotype.\nAll the genotyping procedures were performed on DNA obtained from peripheral blood, using a commercially available kit (Quick-gDNA MiniPrep Kit, ZymoResearch, Irvine, CA, USA). The JAK2 V617F and MPL mutations were genotyped by tetraprimer PCR and multiplex PCR assays, as previously described. The rs10974944 SNP, tagging the JAK2 46/1 haplotype, was genotyped by a PCR-RFLP assay, as we described previously. In order to analyze the common mutations within the exon 9 of the CALR gene (type 1 and type 2 mutations), which account for almost 90% of all CALR mutations, we developed a simplex PCR assay. We analyzed the sequence of CALR gene and developed primers encompassing the two common mutations, using the online program Primer3 v.0.4.0. The primers chosen have the following sequences: forward 5'-GCAGCAGAGAAACAAATGAAGG-3' and reverse 5'-CTTCCTCCTTGTCCTCCTCA-3'. The reactions were set up in 20 muL volumes, with the following composition: 10 muL 2xPCR MasterMix (Fermentas MBI, Vilnius, Lithuania), 10 pmoles of each Fw and Rev primers, 1 muL of 2 mg/mL BSA solution (Fermentas MBI, Vilnius, Lithuania), and 50 ng of genomic DNA. The amplifications were run in Applied Biosystems 2720 and Eppendorf Mastercycler thermal cyclers (Applied Biosystems, USA and Eppendorf, Germany), under the following conditions: initial denaturation at 95 C for 10 min, followed by 35 cycles, each comprising denaturation at 95 C for 40 s, annealing at 55 C for 45 s, and extension at 72 C for 40 s, followed by a final extension at 72 C for 5 min. The amplicons were resolved in a 4% MetaPhor agarose gel (Lonza, Rockland, USA), stained with RedSafe (Chembio, UK). In order to validate our PCR assay, we randomly selected 24 samples and sequenced them bidirectionally, using the same primers as described above. There was a 100% concordance between the results obtained by sequencing and those obtained by the PCR assay.\nThe study was carried out according to the guidelines of the Declaration of Helsinki and informed consent was obtained from both patients.\nWe also performed a routine clinical and hematological examination on Ms. B. L.'s two daughters and on Mr. P. T.'s sister, but there were no pathological aspects that would suggest the presence of MPN. In order to search for a possible latent MPN, we also genotyped JAK2 V617F, CALR, and MPL mutations in these three relatives of the patients, but none of them harbored any of these mutations.\nDuring follow-up, both patients had a favorable evolution, and to date none of them had any of the ET-associated complications (thrombosis or progression to myelofibrosis).",
"gender": "Male"
}
] |
PMC4267161
|
[
{
"age": 48,
"case_id": "PMC5422736_01",
"case_text": "A 48-year-old woman was brought to our emergency department because of confusion and incoherent speech. A striking abdominal distention was noted. The patient was not known to have any underlying medical or psychological illnesses and previously had not had any symptoms or complaints. On physical examination, she was alert but disoriented, with no focal neurological deficit. Results of the cardiopulmonary examination were normal. Shifting dullness was elicited on abdominal examination, but the abdomen was soft and nontender. Results of the initial laboratory parameters revealed anemia with hemoglobin of 8.4 g/dL (normocytic/normochromic anemia), white blood cell count 10.3 x 103/muL with left shift, and platelet count 181 x 103/muL. She had renal dysfunction with a serum creatinine level of 3.5 mg/dL. Liver chemistry revealed an albumin level of 2 g/dL, total protein 8.8 g/dL, total bilirubin 1.7 mg/dL, and aspartate aminotransferase 71 IU/mL; otherwise, she had normal liver enzymes. The ammonia level was 28 mol/L. The patient was positive for HIV-1 RNA, but <20 copies/mL were detected, with a CD4 count of 335 cells/mm3, and she had negative viral hepatitis markers. Computed tomography and magnetic resonance imaging of the head showed multiple, bilateral, acute lacunar infarcts with a distribution suggesting an embolic origin. The echocardiography showed no abnormalities, and normal results from the cerebrospinal fluid examination ruled out acute bacterial meningitis. To investigate the abdominal distension, computed tomography and ultrasound imaging of the abdomen were performed, which showed hepatomegaly with mild surface nodularity, massive ascites, and normal spleen size. Abdominal paracentesis was performed, and the fluid analysis results were as follows: white blood cell count 443 cells/mm3, absolute neutrophil count 389 cells/mm3, lactic dehydrogenase 221 IU/L, glucose 72 mg/dL, amylase 45 IU/L, albumin 1.7 g/dL, serum ascites albumin gradient (SAAG) 0.1, protein 6.8 g/dL, and adenosine deaminase activity level 15.8 IU/L (normal = 7.6). Ascitic bacterial and mycobacterial cultures were negative.\nBecause of the anemia, kidney failure, and albumin protein dissociation, serum protein electrophoresis was performed, which showed an M spike in the beta1-globulin region (see Table 1 for detailed analysis). Serum immunoglobulin levels were as follows: IgM 20 mg/dL, IgG 4.3 mg/dL, IgE 27 kU/L, and IgA 6,033 mg/dL. Protein electrophoresis of the ascitic fluid showed an M spike in the beta-globulin region (Fig. 1). Serum, urine and peritoneal fluid immunofixation showed IgA lambda monoclonal proteins, which confirmed peritoneal infiltration of myelomatous cells. Bone marrow biopsy presented diffuse infiltration by well-differentiated plasma cells, which comprised 49-52% of the nucleated hematopoietic cells. Results of flow cytometry showed lambda light chain restriction consistent with MM. The serum beta2-microglobulin level was 12.5 mg/L, and the skeletal survey was negative, indicating stage III MM according to both the Durie-Salmon staging system and the International Staging System. The patient was discharged to a nursing home and planned to receive follow-up care in the hematology clinic to begin treatment with bortezomib and dexamethasone.",
"gender": "Female"
}
] |
PMC5422736
|
[
{
"age": 27,
"case_id": "PMC3616049_01",
"case_text": "A 27 year-old African-American male was brought in by his family for altered mental status and possible seizure activity. The family stated that the patient had been complaining of a headache for one to two months. The family noted some mild behavioral and cognitive changes that had progressed over the last month. The week prior to presentation to our facility, the patient had an episode of slurred speech, facial droop, drooling, and seizure-like activity in the left upper extremity. The patient was taken to outlying emergency department (ED) but on arrival to the outside facility his symptoms had resolved. He was evaluated with basic labs and a non-contrasted computed tomography (CT) of the brain. He was discharged from the outside ED with a prescription for naprosyn and doxycycline. Over the next week, he had further behavior changes and became very lethargic. The family brought the patient to our facility for further evaluation at this time. The patient had no known past medical history and no prior surgeries. Current medications included naprosyn and doxycycline that he had received one week prior, no other home medications. Social history was significant for alcohol misuse for 10 years, tobacco use of 1 pack per day for 10 years and occasional marijuana use. The patient had just recently moved back to Tennessee to seek help from his family in quitting alcohol, after living in Texas and working as a bank teller for 7 years. No known travel outside of the country and no known contact with persons with communicable diseases. On physical exam he was well developed, well nourished, profoundly encephalopathic and diaphoretic. Temperature was 103 F, heart rate 87 beats/min, blood pressure 154/84 mmHg, respiratory rate 16 /min, and oxygen saturation 99% RA. His cardiovascular, pulmonary, and abdominal exams where unremarkable, skin was notable for significant diaphoresis without rash. He was unable to follow commands for a full neurologic exam but was confused and combative, moved all extremities spontaneously and with equal strength, and did exhibit significant photophobia or nuchal rigidity.\nInitial laboratory data revealed leukocytosis of 11.7 th/mm3 with 92% neutrophils otherwise hemoglobin, hematocrit, and complete metabolic panel where within normal limits. Cerebral spinal fluid evaluation revealed WBC count of 302/mm3 with 98% lymphocytes, glucose 14 mg/dl, protein 144 mg/dl, and was clear in character. Chest x-ray and non-contrast CT of head where without significant pathology. After blood cultures had been obtained and initial CSF studies sent, the patient was place in the neurologic intensive care unit and started on broad spectrum antibiotics with vancomycin and piperacillin/tazobactam. Over the next twelve hours the patient was closely monitored and supportive care was continued as initial results began to return. Gram staining of CSF and blood was negative for bacteria and HIV, RPR, Cryptococcal antigen, HSV PCR where negative. The patient showed minimal mental status improvement within the first 24 hours and an MRI of the brain and Neurologic consult where obtained. MRI with and without contrast revealed right basilar meningeal enhancement with an acute right basil ganglia infarction (Figures 1,2). Given the characteristic finding of the CSF and MRI a PPD was placed and Infectious disease was consulted. PPD was read as negative at 48 hours by nursing staff and re-read as positive at 72 hours by an infectious disease physician. Initial direct smears of two separate samples of CSF where negative for acid fast bacilli, and PCR of the CSF was negative for TB on two different occasions. CT of the chest was obtained to look for possible source of infection and revealed right upper lobe nodules with central cavitations (Figures 3,4). Biopsy of the lung was performed and pathology revealed necrotizing granulomatous inflammation with acid fast bacilli (Figures 5,6). Initial concentrated direct smears for acid fast bacilli from the lung biopsy where negative, but Mycobacterium tuberculosis was isolated and identified by DNA probe with High Performance Liquid Chromatography at 32 days.\nTreatment should be initiated on the basis of strong clinical suspicion. As mentioned previously it may take several repeated studies before obtaining positive proof of tuberculous infection and delay in treatment often leads to irreversible deficits or death. Recommended treatment is for 9-12 months and is divided into two phases. The intensive phase is four drug therapy with isoniazid (INH), rifampin (RIF), pyrazinamine (PZA), and either ethambutol (EMB) or streptomycin (STM) for two months followed by a continuation phase of INH and RIF for 7-10 months depending on clinical response and sensitivity of the specimen.\nOnce empiric TB coverage was started the patient showed significant clinical response with improvement of his mental status, but at the time of discharge still had prominent personality, memory, and functional impairment.",
"gender": "Male"
}
] |
PMC3616049
|
[
{
"age": 32,
"case_id": "PMC4231314_01",
"case_text": "This 32-year-old-man was admitted to the emergency department because of S1 left acute sciatica. An emergency CT-scan showed a highly probable appearance of herniated disc in L5-S1 level (A). The patient was operated without finding disc herniation, but an aspect of anterior and posterior epidural abscess compressing the dural sheath at L5-S1. Medullary MRI showed after the up and the down extention of disease process (B). Histological examination of samples found a B lymphoblastic leukemia (C). The patient died 3 weeks after because of systemic infection. After review of literature, it was never been described that the sciatic pain can be a mode of revelation of B acute lymphoblastic leukemia. Only two cases reported this mode of revelation but for lymphoma requiring a surgical intervention -as our case- firstly to relieve the patient by a radicular decompression and secondly for histological diagnosis.",
"gender": "Unknown"
}
] |
PMC4231314
|
[
{
"age": 41,
"case_id": "PMC4821335_01",
"case_text": "A 41 year old lady presented with dry cough and progressive breathlessness for a year. She was evaluated in another centre with a CT thorax and VATS biopsy 3 months into illness. This showed fibrosing interstitial pneumonia (the slides reviewed in our centre was reported as organizing pneumonia). Post biopsy, she developed a left sided loculated pneumothorax, and this remained even after intercostal drainage. She was treated with oral corticosteroids. After a brief period of stability, her symptoms continued to progress. Azathioprine was added on for another 3 months with no response and hence stopped. She was then briefly initiated on Pirfenidone, which was stopped due to intolerance. When she presented to us, she was only on oral steroids. In the mean time, she developed a spontaneous pneumothorax on right side which completely resolved with intercostal tube drainage. There was no history suggestive of a connective tissue disorder. Her co-morbidities were type 2 diabetes mellitus, hypothyroidism and primary infertility. On examination, she was not clubbed. She had reduced air entry in the left infraclavicular region and bilateral diffuse crackles and squeaks. Her room air saturation was 95% but she quickly desaturated to 82% on exertion. Her ABG revealed chronic type 2 respiratory failure with hypoxia. Her CT scan (Fig. 1) revealed loculated pneumothorax in left upper zone, pleural and subpleural parenchymal fibrosis with upper lobe predominance. The fibrotic changes have significantly worsened compare to previous CT picture.\nThe differentials considered were idiopathic pulmonary fibrosis, idiopathic pleuroparenchymal fibroelastosis and chronic hypersensitivity pneumonitis. Absence of response to steroids and absence of triggering factors dissuaded a diganosis of chronic hypersensitivity pneumonitis. She was started on the maximum tolerable dose of Pirfenidone(400 mg thrice a day) and the oral steroids were gradually tapered. She underwent pulmonary rehabilitation. She was also initiated on nocturnal Non-invasive Ventilation (NIV) at IPAP (Inspiratory Positive Airway Pressure) of 15 cm of H2O and EPAP (Expiratory Positive Airway Pressure) of 6 cm of H2O and long term oxygen therapy was initiated at 1 L/min. She re-presented with increasing shortness of breath, cough with purulent expectoration and pleuritic right sided chest pain. A CTPA was done to rule out a pulmonary embolism and revealed new areas of bilateral ground glass opacities. She was initiated on intravenous antibiotics. After an improvement for few days, she deteriorated with reduced sensorium secondary to worsening type 2 respiratory failure. Her supports on the NIV were increased. She succumbed to her illness in the next couple of days.\nAn autopsy was performed. The pleura appeared fibrotic and adherent to the underlying lungs. The right and left lungs were contracted and weighed 250 g and 335 g, respectively. Serial sectioning revealed areas of consolidation and fibrosis. On histopathological examination (Fig. 2), there was marked pleural fibrosis and elastosis with involvement of the underlying lung parenchyma. There was interstitial fibrosis and elastosis with some of the alveoli displaying type 2 pneumocyte hyperplasia. Overall, the features were in keeping with pleuroparenchymal fibroelastosis. As there were no precipitating factors, we concluded her to have had Idiopathic Pleuroparenchymal Fibroelastosis (IPPFE).\nThe various differentials considered were discussed with the patient and her husband. A few uncoventional treatments were given with good intentions (Pirfenidone for possible idiopathic pulmonary fibrosis and NIV for type 2 respiratory failure in the presence of a loculated pneumothorax), and these were discussed with the family prior to initiation.",
"gender": "Female"
}
] |
PMC4821335
|
[
{
"age": 29,
"case_id": "PMC4643352_01",
"case_text": "A 29-year old male chronic smoker (10 pack years) with a negative vasculitis screen presented with a three-week history of poor healing of a right third toe ulcer. An arterial duplex ultrasound and CT Angiogram (Fig. 1) found that the anterior tibial artery (ATA), which was the target angiosome vessel, was occluded. Segments of the plantar artery were also occluded. The angiographic images of the distal posterior tibial artery (PTA) (Fig. 2) were suggestive of underlying Buerger's disease.\nThe patient underwent a tibial angioplasty. An attempt to reopen the ATA antegradely resulted in the guidewire traversing subintimally in the mid ATA and was unable to re-enter the true lumen distally. Retrograde attempt with fluoroscopy was technically difficult as the visible target dorsalis pedis artery (DPA) was too small. An ultrasound guided approach could not find a sufficient patent lumen. In view of poor imaging quality from both techniques but with a potential target distal DPA, a decision was made for an open approach.\nAs the patient had preoperatively undergone a popliteal nerve block, the skin overlying the DPA was cut longitudinally for 3 cm (Fig. 2b). The artery was identified but not dissected out and looped as traditionally performed. The surrounding tissue around the vessel provides a stable platform for direct puncture. Using the transpedal/micropuncture 4 Fr needle kit (Angiodynamics Inc., NY) the DPA was punctured and back bleeding was obtained. A V18 (0.018\") (Boston Scientific, MA, USA) wire (Fig. 2c) was used to traverse the occluded point of the distal ATA supported with a 2.6 Fr angled CXI (Cook, Bloomington, USA) catheter. The wire was retrieved via an antegradely passed Berenstein 2 catheter (Angiodynamics Inc., NY) at the proximal ATA (transluminally). Subsequently an antegradely passed CXI catheter was passed just proximal to the puncture point of the DPA and the V18 wire was retrieved. The puncture point was closed with a 7/0 prolene stitch. A PT2 0.014\" (Boston Scientific, MA, USA) wire was passed antegradely and passed beyond the puncture point and into the tarsal branch of the DPA. A 0.014\" 2 mm x 80 mm Nanocross (EV3, Covidien, Plymouth, USA) balloon angioplasty was performed across the puncture followed by 0.014\" 2.5/3.0 mm tapered balloon (EV3, Covidien, Plymouth, USA) to the ATA (Fig. 3). Check angiogram revealed good run off to the DPA and the metatarsal artery and a palpable DPA was present. He underwent a third toe ray amputation with good bleeding from the raw edges of the wound. Patient was subsequently placed on double antiplatelet therapy, a statin and was advised to stop smoking. During his routine follow up in the clinic (8 weeks post angioplasty) the wound had healed and he still had a palpable DPA.",
"gender": "Male"
},
{
"age": 62,
"case_id": "PMC4643352_02",
"case_text": "A 62-year old female with end stage renal failure on haemodialysis, diabetes, hypertension and hyperlipidaemia, presented with a 3-week history of left fourth toe wet gangrene. Duplex imaging and on table angiogram (Fig. 4) revealed PTA and ATA occlusions but ATA reconstituted distally by the peroneal artery (main run off). Plantar arch was also incomplete. Vein mapping showed no suitable conduit for bypass.\nAn antegrade angioplasty of the ATA was attempted with multiple wires and supporting catheters and balloons, which proved unsuccessful. The vessel wall was moderately calcified and an attempt at retrograde percutaneous technique using an ultrasound also failed. As the patient was already under regional anaesthesia (popliteal nerve block), DPA was exposed by surgical cutdown and directly punctured with a 4F micropuncture set (Angiodynamics Inc., NY). A 2.6 Fr angled CXI (Cook, Bloomington, USA) crossing catheter over a V18 (Boston Scientific, USA) wire was used to guide the wire transluminally towards the proximal ATA, where it was snared with 4 Fr Berenstein 2 (Angiodynamics Inc., NY) catheter. The angled 2.6 Fr CXI (Cook, Bloomington USA) catheter was then inserted antegrade up to the retrograde puncture point at which point the v18 wire was exchanged with an antegrade PT2 (0.014\" Boston Scientific) guidewire to traverse into the DPA. The puncture point was closed with 7/0 prolene stitch (Ethicon, USA). Post dilatation with a 0.014\" balloon angioplasty showed significant recoil (>50%) at the DPA. A Maris deep (Medtronic MN, USA) nitinol self-expanding stent 3 mm x 80 mm was deployed across the ATA to proximal DPA. However the distal DPA still showed significant stenosis with poor outflow therefore a 3mm x 28 mm Xience Prime (Abbott, Santa Clara, USA) drug eluting stent was deployed across the distal DPA (covering the puncture point). Subsequent angiogram showed rapid outflow to the digital vessels (Fig. 5). The third, fourth and fifth toes were amputated, which showed brisk back-bleeding.\nOne month post intervention the wound showed poor healing and a surveillance duplex scan showed the ATA and DPA stents were thrombosed. Patient underwent a successful antegrade passage of guidewire across the blocked stent and into the metatarsal artery. On angiogram it was discovered the proximal ATA stenosis was the cause of early occlusion and this was treated with a proximal stent. The wound had healed completely at two months follow-up.",
"gender": "Female"
},
{
"age": 64,
"case_id": "PMC4643352_03",
"case_text": "A 64-year old male with diabetes and hypertension was admitted with a 3-weeks history of left heel gangrene. He had absent popliteal and pedal pulses. Duplex imaging revealed multi-level peripheral artery disease with left superficial femoral, tibioperoneal trunk (TPT) stenosis and PTA occlusion. He underwent an antegrade femoral angiogram and successful balloon angioplasty of his SFA, popliteal and TPT. However, the guide wire was not able to re-enter the true lumen of the distal PTA, despite using a supporting catheter and a multitude of wires (Fig. 6a and b). As the PTA vessel was calcified, attempt via retrograde ultrasound guided puncture was unsuccessful due to a poor ultrasonic window. Fluoroscopic guided puncture was also attempted but failed. The PTA was dissected out and punctured under direct vision with a micopuncture set (4 Fr Angiodynamics Inc., NY). A V18 (0.018\" Boston Scientific, MA, USA) wire on a supporting catheter was used and the wire stayed intraluminally and was retrieved at the distal end of the proximal PTA with an antegradely passed 4F Berenstein Catheter (Angiodynamics Inc., NY). After crossing the distal puncture site with a lower profile wire, balloon angioplasty of the whole length of the PTA was performed. There was good flow into the medial plantar artery on completion (Fig. 6c and d). The heel looked well perfused by the PTA and it was debrided. The patient was started on dual antiplatelet and the wound healed completely 10 weeks after revascularization.\nThe open surgical cutdown wounds in all three cases healed without any complications.",
"gender": "Male"
}
] |
PMC4643352
|
[
{
"age": null,
"case_id": "PMC8668381_01",
"case_text": "A term female neonate, weighing 2.63 kg, was delivered in our hospital and was diagnosed with EA/TOF at birth. The antenatal investigations were normal. It appeared as a routine EA/TOF case. She was stabilized, investigated, and underwent primary repair of the EA/TOF on day 3. An extrapleural approach through a right-sided thoracotomy was used. Following ligation of the TOF, the two esophageal ends were mobilized and anastomosed end-to-end with interrupted sutures. Abnormal large arterial vessels were seen coursing across the surgical fields; however, this abnormal anatomy did not interfere with the surgery.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC8668381_02",
"case_text": "The patient developed bilious aspirates on day 8. We did an upper gastrointestinal (GI) contrast series that suggested a duodenal obstruction. In the same series, a communication between the right lung lower lobe and esophagus was identified at T8-T9 level ( Fig. 1A ). The patient underwent an exploratory laparotomy on day 9. Intraoperatively, she was found to have DA/AP and intestinal malrotation. She subsequently underwent a Ladd's procedure and a gastrojejunostomy to bypass the duodenal obstruction. A typical duodenoduodenostomy could not be performed as the two atretic ends of the duodenum were far apart. A repeat contrast swallow performed 5 days later confirmed the patency of the esophageal and gastrojejunal anastomosis but also identified a second communication from the esophagus into the right lower lobe at T5-T6 level ( Fig. 1B ). This created a diagnostic dilemma in the form of a recurrent TOF.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC8668381_03",
"case_text": "The postoperative course in the neonatal unit was also difficult, the infant did not tolerate nasogastric feeds secondary to severe gastroesophageal reflux, and therefore she was given nasojejunal feeds instead. She was initially ventilator dependent and on high flow oxygen in the latter period. The child also underwent esophagoscopy and bronchoscopy during the 5th and 7th week of life. The bronchoscopy findings were normal demonstrating no recurrent TOF, but the esophagoscopy showed an opening, discharging purulent material corresponding to the second communication from the esophagus into the right lower lobe at T5-T6 level ( Fig. 1B and C ) and a patent esophageal anastomosis. Subsequently computed tomography (CT) thorax confirmed two separate communications between the esophagus and right lung tissue, with an accompanying anomalous blood supply ( Fig. 1D ).",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC8668381_04",
"case_text": "At exploratory thoracotomy at 4 months of age, a three-lobed right lung was seen; however, the lower lobe was enlarged and connected in two separate locations to the esophagus. The right lower lobe was separated from the esophagus, by ligating and dividing these two fistulous connections, which bore more resemblance to bronchial type tissue, followed by a partial lobectomy ( Fig. 2A ). A postoperative upper GI contrast series identified a patent esophageal anastomosis, no leakage, and no fistulous connections ( Fig. 2B ). The child required postoperative ventilation for 12 days. The chest drain was inserted intraoperatively. It was removed on 20th postoperative day as there was chest infection with suspicion of collection. She was also given a prolonged course of antibiotics according to culture and sensitivity reports of chest drain fluid and stopped after removal of chest drain. The child was discharged on postoperative day 41 with full oral feeds at 5 months of age. She is currently feeding well and gaining weight as per the last follow-up that was done at 6 months postoperatively.",
"gender": "Female"
}
] |
PMC8668381
|
[
{
"age": 23,
"case_id": "PMC10046697_01",
"case_text": "A 23-year-old female initially presented with a 2-month history of severe frontal sinus headaches and upward gaze diplopia. She had no other significant medical issues and denied nasal symptoms. An outside magnetic resonance imaging scan of her brain was obtained that showed a left ethmoid mass measuring 2.4 x 2.3 x 2.5 cm extending into the left frontal sinus. A computed tomography sinus was then done in the office that revealed an expansile mass destroying the left lamina papyracea and fiberoptic laryngoscopy demonstrated a mass in the posterior nasopharynx adjacent to the left orbit and posterior to the left middle turbinate (Figure 1).\nShe was taken emergently to the operating room for functional endoscopic sinus surgery (ESS) under COVID restrictions and the frontal ethmoid mucocele was completely decompressed. A culture of the left frontal sinus was taken and did not show any fungal organisms. The patient then performed daily nasal saline irrigations and presented to postoperative appointments with mild orbital pain that decreased in intensity with each subsequent visit. Monthly nasal endoscopies consistently revealed an open, wide area at the site of the decompressed mucocele for three consecutive months. Three weeks later, she called the surgeon (N.L.S.) one Saturday night complaining of sudden onset, sharp pain that felt like she had a \"knife in her left eye.\" She was treated conservatively over the weekend with nasal irrigations and a nasal corticosteroid spray. A video endoscopy in the office revealed a sharp object penetrating the left orbital tissue (Figure 2). Attempted removal under video endoscopy failed and was painful as the spicule was impacted into the periorbital tissue that was now unprotected because the bony lamina papyracea had been resorbed by pressure from the mucocele. The object was finally irrigated under general anesthesia in the operating room. Spicule fragments were cultured and sent to pathology. Both reports were consistent with Aspergillus fumigatus. The patient's \"knife-like\" pain was relieved after the procedure, but orbital pressure persisted until the fungal infection was brought under control.",
"gender": "Female"
}
] |
PMC10046697
|
[
{
"age": 32,
"case_id": "PMC6884723_01",
"case_text": "A 32-year-old man with no antecedent comorbidities presented to the emergency department of a tertiary hospital in South Western Nigeria with an acute onset high-grade intermittent fever with chills and rigors, headache, myalgia, abdominal pain, and vomiting. There was no reported diarrhea or yellowness of the eyes. Prior to presentation, he had used oral anti-malaria medications, oral ciprofloxacin and antipyretics with no improvement. He worked as an agricultural research fellow and routinely spent a fair amount of time at work outdoors in farms and fields. Physical examination showed an acutely ill looking febrile patient with a temperature of 38.9 C, blood pressure of 120/70mmHg, a pulse of 92 beats per minute, and a respiratory rate of 24 cycles per minute. The rest of his physical examination was normal. His initial laboratory evaluation showed a leukocyte count of 7,090/mul of which 84.7% were neutrophils, a hemoglobin of 14.5g/dl, and platelet count of 89,000/mul. Activated Partial Thromboplastin Time (APTT) and prothrombin time were prolonged by 15.2 and 5.3 seconds, respectively. A slightly elevated INR of 1.35, but a markedly elevated D-dimer of 224.6mug/ml (ref 0-0.5mug/ml) were observed. The renal biochemical parameters were normal except for creatinine of 1.5mg/dl. Apart from an AST of 223 IU/l and an ALT of 70IU/l, all other liver function tests were normal. Urinalysis revealed microscopic hematuria. Other investigations are detailed in Table 1. Intravenous ciprofloxacin, metronidazole, and parenteral artesunate were commenced.\nOn subsequent review, the temperature was 39.2 C, pulse was 102 beats per minute, and there was tenderness on the right iliac fossa and suprapubic areas. Ciprofloxacin was changed to ceftriaxone, and parenteral metoclopramide was added to control the vomiting which had persisted since admission. On the fourth day of admission, he complained of rhinorrhea. Further physical examination revealed a mildly inflamed pharynx with no significant regional lymph node enlargement. Pulse was 82 beats per minute, blood pressure 110/70mmHg, respiratory rate of 32 cycles per minute, and reduced breath sounds in the middle and lower zones. Chest X-ray showed perihilar patchy opacities worse on the right with few patchy opacities on the right upper and lower zones. With concern for a sub-optimally treated community-acquired pneumonia, azithromycin was added for atypical pathogens. The following day, the temperature was noticed to be 40.5 C despite regular antibiotics. Pulse was 100 per minute, blood pressure was 130-170/60-100mmHg. The respiratory rate was 62 cycles per minute, and SpO2 was 79-81% while breathing ambient air. Percussion notes were dull on the right lower zone, and breath sounds were vesicular with a mix of coarse crackles and rhonchi on the right lower zone.\nA repeat laboratory evaluation showed worsening microscopic hematuria, thrombocytopenia, and a leukocytosis of 11,720/mul. Blood film for malaria parasite detection was repeatedly negative. Supplemental intranasal oxygen at 4L per minute was administered. Loratadine and amlodipine were added, and the patient was transferred to the Intensive Care Unit (ICU) for respiratory support. In the ICU, the dyspnea improved with oxygen therapy by face mask. SpO2 on oxygen therapy ranged between 93% and 97%. Respiratory rate was 26 cycles per minute, pulse was 88 beats per minute, and blood pressure was 135/76mmHg. However, he continued to have high-grade fever, tachypnea and developed diarrhea with dark-colored stools over the next 3 days while in the ICU. On the 10th day of admission, a positive result for viral hemorrhagic fever screening using real-time RNA polymerase chain reaction panel detecting the dengue virus was obtained. Supportive management was continued. After 16 days of conservative management, the patient had an uneventful recovery and was discharged home from the hospital. He was established to have a normal blood pressure with no medication after a year of follow up.",
"gender": "Male"
}
] |
PMC6884723
|
[
{
"age": 47,
"case_id": "PMC3921775_01",
"case_text": "A 47-year-old man presented with dysuria. Digital rectal examination revealed a nodule in the left lobe of the prostate. The prostate-specific antigen (PSA) level was 65.5 ng/mL. Transrectal biopsy of the prostate revealed adenocarcinoma. A computed tomography (CT) scan, magnetic resonance imaging, and bone scan showed no metastasis. After two months of neoadjuvant hormonal therapy (leuproreline and bicalutamide), retropubic radical prostatectomy and obturator lymph node dissection were performed. The pathological finding was a moderately differentiated adenocarcinoma (Gleason score 3 + 4 = 7) (Fig. 1A). The surgical margins and obturator lymph nodes were negative.\nHe was young and was a high-risk patient for recurrence; hence, postoperative adjuvant hormonal therapy (leuproreline and bicalutamide) was started immediately. Three years later, hormonal therapy was changed to monotherapy (bicalutamide). Monotherapy was discontinued because the PSA level was maintained below 0.04 ng/mL for eight years. Two years after the discontinuation, the PSA level increased gradually to 0.73 ng/ml. A CT scan showed no metastasis. He was diagnosed with biochemical recurrence and refused to receive salvage radiotherapy. Complete androgen blockade (leuproreline and bicalutamide) was restarted, and an intensive follow-up was performed every 1 to 1.5 months. Twenty-one months after the biochemical recurrence, the PSA level increased to 10.4 ng/mL and a CT scan showed left inguinal lymphadenopathy (Fig. 2A). The maximum size of the lymph nodes was 2 cm in diameter. To determine whether the lymphadenopathy was caused by metastatic prostate cancer, one of the swollen inguinal lymph nodes was obtained by open biopsy. Pathological findings revealed metastatic prostate cancer (Fig. 1B). The patient was then treated with estramustine phosphate sodium and dexamethasone for 1 year. The size of the lymph node decreased to 8 mm in diameter, and no other metastatic lesions were found (Fig. 2B). The PSA level decreased to 0.2 ng/mL.",
"gender": "Male"
}
] |
PMC3921775
|
[
{
"age": 0,
"case_id": "PMC5827702_01",
"case_text": "Growing up, father and son had relatively little to do with one another. Nine siblings were formidable competition, and the eldest - a girl - was already twenty years old when Heisaku came along, by which time fatherhood for Takataro may have lost much of its charm. To make matters worse, under Japan's ie (household) system, the first son mattered by far the most in terms of family name and inheritance. Heisaku's existence was, at least in this social sense, neither here nor there. His eldest brother's name - : Soei - meant religious glory or honour. Heisaku - - meant 'normal crop'.\nOther than Kosawa's early wish to become Prime Minister, which he attributed to the influence of his father's politics, there is little evidence that Takataro attended to or shaped the young boy directly in any meaningful way. Kosawa later recalled Takataro reserving most of his attention instead for the third son of the family, Saburo, who appears to have suffered with behavioural problems. Kosawa resolved to become a psychiatrist one day partly so that he could better understand people like Saburo - how they came to be the way they were, and what might be done about it.\nTakataro's influence on Kosawa was largely indirect, but formidable nonetheless. He plainly scared his son, who found him overbearing, unpredictable, stubborn and fundamentally selfish (Kosawa, yume bunseki). He recalled his father once complaining to him about the cost of Heisaku's lengthy hospital treatment for a detached retina while in his mid-20s. Despite this being a serious condition, and doubtless a frightening experience, the only fatherly comments that stayed with Kosawa were that one family member shouldn't be allowed (financially) to destroy the rest. Even as Takataro lay dying, there was no let up. Kosawa was by this point a fully qualified medical doctor, pursuing a specialism at one of the country's most prestigious universities. His father simply asked him how long he intended to keep messing around 'at school' (Kosawa, Satogaeri no ki). Kosawa, for his part, tried to bring what he could of his medical know-how to prolonging his father's life. He was unsuccessful, and may even have blamed himself for his father's early death in 1931.\nTwo things now happened. First, Kosawa started to identify himself with Prince Ajase, who in a famous Buddhist legend set during the lifetime of the historical Buddha imprisons and then kills his father, King Bimbisara. By the summer of 1931, Kosawa had published a mixed psychoanalytic and religious theory of guilt based on this legend, including in it his parable of the smashed plate. Second, Kosawa left Japan in late 1931 to seek out Sigmund Freud. He wrote to his brother Ichiro - the fourth son, who having inherited the family's money agreed to help finance Kosawa's trip - that his aim was to get Freud's approval for his new 'Ajase Complex' idea and then return to lay his completed thesis at their father's grave (Kosawa,).",
"gender": "Female"
},
{
"age": 10,
"case_id": "PMC5827702_02",
"case_text": "In Kosawa's parable, the child's mother appears by contrast as a saintly figure: capable of great patience and gentleness but also possessing a spiritual gift of sorts, able to see into the depths of the child, meet him there, and nurture a 'truly religious state of mind'. Kosawa's own mother, Kon, was a rather more complex figure, and in any case as was common for a family of the Kosawas' standing, the young Heisaku was mostly looked after as a child not by his mother but by a local girl serving as his nanny. 'Ichi' was around ten years old when she began looking after Heisaku, and as one might expect from someone of that age was not entirely committed to the idea of responsible childcare. Missing her friends, she once tied Heisaku to a tree so that he couldn't wander off while she went out to play. Much later in life, Kosawa's thoughts used to return frequently to that moment - a sign, thought one of his students, that his idealization of the maternal possessed deep roots not in satisfaction but in longing and loss (Takeda,). 1 \nKosawa was by no means out of the ordinary here. He grew up in a society many of whose men rhapsodized rather than really knew their mothers (Napier,), and who sought to fix the womanly and the maternal as comforting social, emotional and even spiritual categories. She was, nevertheless, a strong presence in his life, ensuring that 'home' offered a reassuring resonance and embrace for Heisaku - powerful enough to surface years later in his free associations. He remembered her joy when he used to return home from boarding at his Higher School in Sendai, in the north of Japan. Mother would make amazake - a sweet rice drink - to welcome him back. She would smile at him as he licked his cup - 'like a baby', he wrote, 'just moving onto solid food'. Heisaku remembered too the vivid sensation of being in the bath with her (Kosawa, yume bunseki).\nKosawa's early relationships with his father and mother seem to have shaped his attitudes towards both Buddhism and mental health, and to have inspired his interest in seeing the two placed together in a single, salvific system - albeit with Buddhism and psychoanalysis still retaining separate goals and languages and institutions of their own. Helping to set this emerging conversation in train was a Buddhist monk of the Jodo Shinshu (Shin) sect by the name of Chikazumi Jokan. Kosawa met Chikazumi while he was at Higher School in northern Japan, encountering via him a highly devotional, emotional form of Buddhism in which intra-familial relationships were understood as furnishing the individual with transpersonal salvific opportunity. Chikazumi came to this realization while lying in bed one day, critically ill, and hearing his father by his bedside quietly wishing his son's troubles upon himself. It became a moment of conversion: an encounter with compassion so strong and pure that all at once it broke him out of the small, citadel mentality of a young university intellectual, showing him instead a truer, more vital vision of himself - as weak, vulnerable and loved (Iwata,).\nThe proximate source of this love and compassion was his father. Their ultimate source, for human beings, was the quasi-monotheistic figure of the cosmic Buddha 'Amida' - the Buddha of Infinite Light. The thirteenth-century founder of Shin Buddhism, a man by the name of Shinran, had insisted that the limits of human nature and the boundless compassion of Amida were such that a person needed only to recite a short prayer - Namu-Amida-Butsu: 'Hail to Amida Buddha' - in order to be saved. This wasn't some magical formula. Rather, it was an honest and profoundly generative recognition of weakness, such that the very term 'weakness' lost its typical, negative connotations.\nThe voice with which I call Amida Buddha\nIs the voice with which Amida Buddha calls to me.\nShinran went as far as to say that this prayer could only be truly spoken by Amida Buddha himself, working at the deepest level of a person's subjectivity. As Kai Wariko, a modern Shin poet, put it:For Chikazumi, and soon for Kosawa, the full force of his home life coming into play alongside a new-found devotionalism, modern Japanese family relationships were the means by which Amida's mercy broke into mundane, linear time, and into mundane, human lives (Iwata,).\nTo twenty-first century ears, much of this must already sound like psychotherapy of a sort (Ross,). But for Kosawa, the connection only really came when he encountered the writings of Sigmund Freud while at university. He found in Freud a modern-day Shinran: someone who understood human frailty, and appeared to be on a quest to tease out and treat them, bringing all the tools of modern science to the task.\nA few months spent in Vienna, with Freud and his circle, failed to change Kosawa's mind about Freud and the purpose of psychoanalysis, although he did write home to his brother to say that he was a little disappointed with the general level of psychoanalytic practice in Vienna - and was looking forward to getting home to start his own clinic in Tokyo (Harding,). 2 This he accomplished in 1933, seeing hundreds of clients from all walks of life over the next few years - students, farmers, civil servants, company employees, even a sushi chef, a politician, and a Buddhist monk. From his client records, and from the testimony of those still alive who were treated by Kosawa, we get a sense of the therapeutic fruits of Kosawa's inner religion-psy dialogue across his early life.\n Kosawa's impeccably neutral consulting room - Buddhist conversation with interested clients would instead be held next door, once the session had ended.\nPerhaps most revealing are the records of what Kosawa called 'psychoanalysis by mail'. This involved asking clients who couldn't make it for face-to-face sessions in Tokyo to send him, at regular intervals, two documents. The first was a covering letter, addressed to Kosawa. The second was a written record of a period of solo free association - all that had flashed through their heads when they obeyed the standard psychoanalytic command to allow their thoughts and feelings to go where they will. The first document told Kosawa about the client's own self-understanding. The second was the really interesting one: it revealed something of what lurked in the client's unconscious. As therapy went on, Kosawa would hope to see material move from this second document into the first: unconscious elements making their way into conscious awareness.\nCovering up the ears symbolizes castration, which in turn suggests your desire to become a girl as a means of securing affection from your father. What's more, your recollection and sharing of that memory now may well be a sign of homosexual feelings towards me ...\nOne client confided in Kosawa that he recalled being embarrassed, as a child, when his parents forced him to wear a girl's rubber swimming cap at the seaside. Kosawa responded that he hadn't been embarrassed at all: he had liked it. \nPerhaps the client spilled his morning tea as he read this. Maybe he glanced nervously over the top of the letter at his father sitting across the table. Whatever happened, this was part analysis, part carefully calibrated attempt to nudge a client who was beginning to over-intellectualize the process of therapy into precisely the kind of gentle, helpless humiliation that Kosawa believed Shinran and Freud were agreed was central to the success of religious practice and psychotherapy alike. One day, a client of Kosawa's reported to him a vivid experience of being momentarily outside of himself, or at least not quite 'in' himself in the usual way. Kosawa was overjoyed. That, he said, is the real aim of psychoanalysis. Without it, psychoanalysis as a technique can never survive (Harding,).\nAwareness in the West of the Shin Buddhist sect to which Kosawa belonged has generally been low, despite its considerable size and power in Japan. 3 Buddhism, and especially Japanese Buddhism, has tended to be associated more with Zen. One of the reasons put forward for this is that in Zen, mid-twentieth-century Westerners found a combination they felt Christianity failed any longer to provide: vivid experience, real inner change, minimal theological baggage. Shin Buddhism's emphasis on faith and fundamental human inadequacy, by contrast, was too close for comfort to Protestant, particularly Calvinist Christianity. Why travel thousands of miles to a brand new culture - whether literally or in one's reading - only to find the very thing you were trying to escape?\nAnd yet for all the past and on-going interest in how Zen and psychoanalysis might work together, pioneered in the late 1950s and early 1960s by Erich Fromm and Japan's famous Buddhist evangelist D.T. Suzuki (Fromm, Suzuki, & De Martino,), Shin Buddhism and psychotherapy - as Kosawa's experience shows - possess promising commonalities. So it is all the more interesting to see that just five years after Fromm and Suzuki's work was published, Protestant Christianity and psychotherapy were entering into dialogue via a radio and television studio conversation between the German-American theologian Paul Tillich and Carl Rogers - the latter once having spent time in training for the Christian ministry.\n Carl Rogers in conversation with Paul Tillich, filmed for television in 1965.\nWe may identify four key themes arising in and from Kosawa's inner religion-psy dialogue and the more literal 'dialogue' between Tillich and Rogers: a concern with the damaging social and psychological impact of modernity; a conviction that a profound experience of acceptance lies at the heart of the remedy; a sense that, almost by definition, this cannot be effected by the individual acting alone for his or her own benefit; and a danger - pointed out by critics - that such a remedy, especially where it takes hybrid religion-psy form, risks fostering subjectivities more suited to the totalitarian societies of the recent past in Europe and Japan than their postwar counterparts. It is worth briefly addressing each of these themes in turn.\nKosawa Heisaku was a great critic both of what he saw as pathological individualism in early 1930s Japan and the false community and comfort offered by Marxism and by Japan's 'new religions', the latter striking Kosawa as shallow and manipulative. Kosawa was hardly alone in these concerns: commentators from the novelist Natsume Soseki through to journalists and philosophers like Watsuji Tetsuro worried about Japan's social and cultural fabric coming apart under the pressure of successive waves of Western fads and fashions from the late nineteenth century onwards. In the United States, both Paul Tillich and Carl Rogers worried, as Terry Cooper has shown (Cooper,), in similar ways. Tillich wrote about 'estrangement': from the ground of our being (a phrase Tillich used frequently for what other theologians called God), from others, and from ourselves. Rogers coined the term 'incongruence': the result of steadily concealing parts of ourselves from others as we grow up, in the hope of making ourselves more acceptable, the end-point of which is the partial concealment of ourselves from ourselves (Cooper,, pp. 17-21).\nIn all three schemes - Kosawa, Tillich, Rogers - we find that acceptance plays a crucial role in countering all this. Not 'acceptance' in the everyday sense for which 'tolerance' may be the more accurate term, but rather the kind of acceptance that relies on deep knowledge of the person who is being accepted, along with that person's willingness and ability to, as it were, accept the acceptance. One of the reasons why Kosawa chose a little boy, as opposed to an adult, for his parable may be that a little boy, or girl, might still be at the stage where they have not lost their natural ability to accept acceptance. What Rogers called 'conditions of worth', all too clearly communicated in the father's outburst in the parable, have not yet become completely entrenched.\nBut here is an important point of complication: where does this acceptance come from? For Rogers, the human realm is the source. For Tillich, the human realm - including family and therapist - mediates an acceptance that comes from somewhere well beyond us. Though there are obvious perils in seeking to compare Kosawa's with Tillich's cosmologies, the two share something important in common here. They are convinced that anxiety or other forms of distress stem, in part at least, from our very nature, which in turn is a 'given' of existence rather than something we are capable of shaping. Because of this there is always need of what Tillich called grace and what Kosawa understood as the working of Amida's compassion: some salvific force from without, operating in and through the human.\nThis places important limits on religion-psy dialogue, in at least two ways. First, though in entirely secular counselling settings one could talk of moments of 'grace' (where something powerful and unintended arises), and on that basis much fruitful conversation can happen between the religion and psy spheres, Tillich's and Kosawa's cosmologies nevertheless understand the human as something else, or more. So for all their usefulness as bridging concepts between the religious and the psy, ideas like 'grace' should not have distinct meanings folded into them as though such things do not matter. Second, in Kosawa's and Tillich's cosmologies human limitations extend to our ability to formulate any adequate concepts - suggesting an even more fundamental hermeneutic problem for religion-psy dialogue (Hirota,). 4 \nCritics of particular instances of religion-psy dialogue have been quick to offer related cautions. We need some way of distinguishing in meditation, argues one, between psychological insights (about us, in the past and present) and spiritual insights (relating to the 'divine', for wont of a more appropriately inter-religious term, and our place in it, or relationship with it). We need to avoid religion-psy 'dialogue' devolving into the former simply serving the latter - as a provider of high-sounding, inspirational alternative terminologies for what is basically psychology, effectively masking a slide into agnosticism. 5 Still others wonder how forms of Buddhism and Christianity that resist the idea of ultimate reality having a personal dimension can meaningfully talk about 'acceptance'. Surely acceptance is a process with a person at either end (Cooper,; Harding,).\nLastly, there is a concern about what kinds of people some forms of religion-psy dialogue helps to create. Kosawa, in his own day, was accused of literally 'drinking' his clients: thriving on their tales of distress and even playing the saviour to some extent - unable, despite his theorizing to the contrary, to imagine himself rather than Amida Buddha as the source of a person's felt acceptance. An American critic, though not especially well informed about Japan, offered the provocative criticism that whereas psychoanalysis in the United States sought to free the individual from the fetters of society, people like Kosawa actively sought to tighten them. If one stands back and seeks to read, at a purely social level, Kosawa's therapy, then reliant as it was on encouraging an individual to really experience their frailty, inadequacy, and deep need of others it might indeed fit such concerns. Read, however, at a religious or philosophical level, there might seem to have rather more going on: on this reading, everyone is heir to the very same constitutional weaknesses, so there can - or at least should - be no tyranny of 'strong' over 'weak'. In practice, of course, there was the serious risk of a religious reading glossing, even enabling, the harmful effects described in a social reading. Kosawa was criticized on precisely these grounds by some of his young psychoanalytic trainees.\nFor Kosawa Heisaku, the fruits of religion-psy dialogue emerged in two simple questions: what is insight, and what does it cost? Good questions, which seem likely to remain with us for some time yet. And there is much to welcome, from this point of view, in the increasing interaction between the religion and psy professions, institutions, ideas and practices - even orientations within individuals. Finding ways to hold such interaction to account, by understanding its sources, claims, motivations and possible implications, is an important task, in which a range of academic and non-academic specialisms have roles to play. This article has sought to sketch out a social-historical and transcultural approach, as just one of many potential angles on this complex modern and contemporary phenomenon.",
"gender": "Male"
}
] |
PMC5827702
|
[
{
"age": 82,
"case_id": "PMC4382053_01",
"case_text": "An 82 years old patient was admitted to the emergency department complaining since 15 days of fatigue, dizziness and lipothymia. He had a history of hypertension and diabetes; and had undergone a coronary bypass in 2005. His physical examination showed a blood pressure at 160/50mmHg, a heart rate at 26cycles/min, and he was afebrile. On admission the ECG showed a third degree atrioventricular bloc with a regular rhythm at 26 cycles/min, P wave was absent, QRS complex was not wide (<0.10ms) and the T wave was not \"tente like\", tall, peaked and symmetric, it was negative in the inferior territory and the ST segment was underlined in the laterobasal derivations. The laboratory findings included a serum potassium level of 6.9mEq/l (normal 3.6-5.5), sodium 132mEq/l (normal 135-140), creatinine 30mg/l (6-14) and urea nitrogen 0.82g/l (0.17-0.43), MDRD clearance was at 20ml/min (normal > 80). The arterial blood gas analysis revealed a pH of 7.32, pO2=115mmHg, and pCO2=34mmHg. The patient was treated immediately with furosemide, bicarbonate serum, calcium gluconate, glucose solution, and insulin, after three hours, the ECG showed normal sinus rhythm with visible P waves, a heart rate at 60cycles/min and a shortening of the QT interval in comparison with the first ECG. Blood potassium at this moment was at 5.60mEq/l. Hyperkalemia is known to cause a depression of the conduction velocity and excitability of the pacemaker cells and conduction tissues, resulting generaly in an advanced atrioventricular bloc with wide QRS complex. In this case the QRS remained normal.",
"gender": "Male"
}
] |
PMC4382053
|
[
{
"age": 8,
"case_id": "PMC7165356_01",
"case_text": "The patient, an 8-month-old female, was born to a nonconsanguineous couple from a healthy 37-year-old mother of Native American descent and a healthy 30-year-old father of German and Irish descent. Family history is notable for an older sibling with cleft palate, paternal uncle with autism, paternal second cousin with congenital heart defect, and distant paternal great-great uncle with Down syndrome and webbed/fused 4th and 5th digits of one hand. A normal pregnancy was noted until the second trimester when an omphalocele was detected on ultrasound. A subsequent ultrasound revealed possible syndactyly of the hands. The patient was born at 39 weeks by vaginal delivery with induction. The birth weight was 3.552 kg (75th percentile), birth length was 50 cm (68th percentile), and birth head circumference was 34.5 cm (70th percentile). Apgar scores were 9 at both one minute and five minutes.\nMultiple congenital anomalies noted at birth included an omphalocele that measured 4 cm at base and 3.5 cm across with intestines present in the sac, but no liver. The patient had a normocephalic head with sparse wispy hair, a small nose with hypoplastic alae, a prominent columella, small-appearing palpebral fissures, a small cornea, microphthalmia, a wide anterior fontanelle, and retrognathia (Figure 1). Syndactyly of digits 4 and 5 and webbing of digits 3 and 4 of the right (Figure 2) and left hands were present. Cardiac echocardiogram on the day of birth showed the presence of a mild patent ductus arteriosus, mild patent foramen ovale, and a normal aorta. Feeding difficulties were exacerbated by the presence of the omphalocele; surgical correction was performed on day 2 of life.\nAn ophthalmologic assessment at 4 months of age was notable for deep anterior chambers, bilateral nasolacrimal duct obstruction, microphthalmia, small 8 mm corneas, a blonde fundus, and moderate hyperopia in both eyes.\nAt her last examination at 8 months of age, the patient continues to have poor feeding with self-limiting volumes but has improved weight gain. The patient is at the 9th percentile for weight and 12th percentile for length. Cognitive and motor developments are delayed.\nSequencing of the GJA1 gene (transcript number: NM_000165.3) from patient genomic DNA revealed a heterozygous missense mutation in the GJA1 gene: c.65G>A (p.G22E). Deletion/duplication analysis of the GJA1 gene using the aCGH test was negative.",
"gender": "Female"
}
] |
PMC7165356
|
[
{
"age": 20,
"case_id": "PMC4031092_01",
"case_text": "Exostoses are the most frequent benign bone tumors. They account from 10 to 15% of both benign and malignant bone tumors. Osteochondroma may be present as a solitary lesion or in exostoses multiple hereditary form. Usually, they are asymptomatic. However, they may cause various complications such as arterial pseudo-anevrysm. This pseudo anevrysm is most often located on the popliteal artery. Pseudo-anevrysm results from an arterial injury due to exostose. Its mechanism development is still unknown because it is usually asymptomatic. Our case involved a 20 year-old boy with multiple hereditary exostoses. A large pseudo-anevrysm was observed and broken during surgery. Then, He was admitted for care in our Hospital. Although arterial pseudo-anevrysms rarely develop, we must always pay attention to patients who present multiple exostoses.",
"gender": "Male"
},
{
"age": 22,
"case_id": "PMC4031092_02",
"case_text": "A 22-year old man with hereditary multiple exostoses was scheduled for a surgical excision of distal right femur osteochondroma. The preoperative evaluation was unremarkable, distal pulses were presents and the leg was well perfused. Knee X-rays showed bilateral distal femoral exostosis (Figure 1)\nDuring intervention a massive bleeding occurred, and for hemostasis, the surgeon was forced to lie the popliteal artery. Three hours later, the patient was admitted to our emergency department with a relative ischemia of the right lower limb, with normal vital signs. On physical examination, sensation was present but reduced to the foot, the popliteal and distal pulses were absents. Laboratory tests were normal except for haemoglobin; it was at 9 g/dl. An arteriography was performed and clearly showed a popliteal artery occlusion opposite the incision (Figure 2). The patient underwent surgery. The popliteal artery was exposed through a medial supra-geniculate and infrageniculate approach. The artery was found ligated near the prior surgical site. The popliteal artery wall was repaired by veinous graft after vascular clamps were applied (Figure 3). The postoperative course was uneventful and the patient regained his normal activity. There was no sign of malignant transformation on histopathological examination of bone",
"gender": "Male"
}
] |
PMC4031092
|
[
{
"age": 34,
"case_id": "PMC4612613_01",
"case_text": "A 34-year-old right-handed female with a history of pseudotumor cerebri presented to our clinic with several months of headaches, vertigo, and diminished hearing on the left with gait imbalance. Pre-operative MRI demonstrated 3 cmx2.5x3.3 cm homogenously contrast enhancing mass in the cerebellar-pontine angle with extension medial to the seventh/eighth nerve complex and slight extension into the internal auditory canal (Fig. 3a). MR venography demonstrated patent transverse/sigmoid sinuses bilaterally. The patient underwent an uneventful left-sided extended retrosigmoid craniotomy with lumbar drain placement and intra-operative neuro-monitoring. Postoperatively the patient was discharged home postoperative day 3 neurologically intact with post-resection imaging that demonstrated complete resection (Fig. 3b). Final pathology was WHO grade I meningioma.",
"gender": "Female"
}
] |
PMC4612613
|
[
{
"age": 11,
"case_id": "PMC7182763_01",
"case_text": "An 11-year-old boy presented with cough persisted for about 3 months. He had recurrent bronchitis many times previously and without relevant surgical history. His cough was worse at night and post-exercise. Physical checkup revealed decreased breath sounds on the left lung. Laboratory results showed elevated inflammatory biomarkers. Imaging study included a computed tomography examination of the chest.",
"gender": "Male"
}
] |
PMC7182763
|
[
{
"age": 44,
"case_id": "PMC4559873_01",
"case_text": "In August 2008, a 44-year-old female had undergone surgery for resection of a malignant melanoma in the right lower leg and a right inguinal metastatic lymph node (Fig. 1), followed by chemotherapy with doxorubicin, adriamycin, vincristine, and interferon beta (DAV-feron). In March 2012, computed tomography (CT) revealed brain and lung metastases, so the patient began radiation therapy to treat these lesions.\nIn September 2012, the patient was admitted to our hospital for back pain. Abdominal CT and magnetic resonance imaging detected new multiple hepatic metastases of melanoma. A transcatheter arterial infusion of cisplatin was administered, and transcatheter arterial embolization (TAE) was performed. In October 2012, she began treatment with vemurafenib, based on the finding of a positive BRAF V600E mutation in the resected primary site of the skin, which was analyzed by direct sequencing analysis using DNA from the paraffin-embedded primary cutaneous melanoma. She tolerated the treatment remarkably well, and the size of the multiple hepatic and lung metastases decreased, while the size of the brain metastases did not. In addition, the serum concentration of 5-S-cysteinyldopa (5-S-CD), a biological marker of melanoma progression, was also decreased from 40.1 ng/mL to 5.2 ng/mL.\nIn December 2012, she suddenly developed severe abdominal pain. Abdominal CT revealed ruptured hepatic metastases accompanied by massive intra-peritoneal hemorrhage. A retrospective and sequential analysis of the CT images suggested that a part of the liver metastases had enlarged rapidly and then ruptured with intratumoral hemorrhage during vemurafenib treatment (Fig. 2). An emergency TAE was performed by selective occlusion of the right hepatic artery using gelatin sponge particles. The postoperative course was uneventful for several days. However, on the 26th postoperative day, she developed hemorrhagic shock and died of renewed intra-abdominal bleeding.\nAn autopsy examination revealed hemoperitoneum due to rupture of the liver metastases. Metastases were also discovered in the brain and lungs as well as in the kidneys, adrenal gland, and lymph nodes, although these had not been detected on imaging while she was alive. There was also massive bloody ascites (1700 mL). The background liver was completely normal, whereas exposed necrotic tissue and intratumoral hemorrhage were observed at the site of tumor rupture (Fig. 3). We concluded that the cause of death was hemorrhagic shock from ruptured hepatic metastases of malignant melanoma. Finally, for improved understanding of the mechanism of refractory metastasis, we conducted an immunohistochemical analysis of the signal transduction molecules, phosphorylated extracellular signal-regulated kinase (p-ERK), and phosphorylated Akt (p-Akt), as well as the melanocyte marker Melan-A and Ki-67 in tumor cells of the primary malignant melanoma obtained from the right lower leg and in hepatic and lymph node metastases obtained on autopsy (Fig. 4). Our findings showed that hepatic and lymph node metastases were positive for p-ERK and negative for p-AKT, even though the primary tumor was negative for both.",
"gender": "Female"
}
] |
PMC4559873
|
[
{
"age": 8,
"case_id": "PMC9815528_01",
"case_text": "The patient is an eight-year-old male born to non-consanguineous parents of Arab origin. He has three healthy siblings, and his pregnancy and delivery were normal. In January 2014, at the age of 5 months he presented to the Emergency Department of our hospital with acrofacial ulceronecrotic plaques which appeared initially at the age of 1 month over the cheeks and nose with subsequent development of similar lesions over the hands and feet. The parents reported exacerbations upon exposure to cold temperatures. At his arrival, he was hemodynamically stable and alert with no fever.\nPhysical examination on admission showed erythematous violaceous indurated plaques with central necrotic ulceration located over the tip of the nose, bilateral cheeks and ear helices. Similar lesions were seen on the knees and extensor surfaces of the arms (Figures 1A-C). There were no cardiopulmonary, gastrointestinal, genitourinary or ophthalmological abnormalities.\nThe patient was admitted for further investigation and treatment. During his hospitalization he showed signs of poor feeding, weight loss and failure to thrive. A nasogastric tube was inserted that facilitated his feeding, improving his weight. Despite topical wound care and systemic antibiotics including cephalosporins and vancomycin, systemic corticosteroids and antifungals, no improvement was observed, with new lesions appearing on the right hand and right elbow after exposure to cold. In addition, the patient developed unexplained febrile episodes with concurrent deterioration of the ulcers. Extensive laboratory workup was performed, as follows: skin and blood cultures showed no evidence of microbial growth (bacteria, mycobacteria and fungi). Cutaneous leishmaniasis was also excluded by smear and polymerase chain reaction. Blood work showed normal kidney and liver function tests moderate leukocytosis and thrombocytosis, normal hemoglobin level and no marked elevation of C-reactive protein or erythrocyte sedimentation rate. Anti-nuclear antibodies, rheumatoid factor, anti-Ro, anti-La, immunoglobulins, cryoglobulins and cryofibrinogens, C3, C4, C-ANCA and P-ANCA were all within normal limit. A biochemical assay for prolidase deficiency was negative, chest x-ray, abdominal ultrasound, were normal. Serology for human immunodeficiency virus was negative as well.\nTwo skin biopsies were performed, demonstrating epidermal necrosis, mild parakeratosis, mild focal vacuolar degeneration and apoptosis of basal cell keratinocytes., mononuclear lymphohistiocytic infiltrate surrounding blood vessels, eccrine glands and hair follicles together with fat necrosis and hyalinization suggestive of lipodystrophy. No thickening of the basement membrane was observed (Figures 2A,B).\nGiven the history of transient sterile pyrexias with pernio-like skin lesions, ulcerations and lipodystrophy, a disorder of type I interferonopathy was suspected. Trio exome sequencing obtained from peripheral blood of the patient and his parents was negative for mutations in genes responsible for different type-1 interferonopathies that were included in our differential diagnosis. Mutations in candidate genes which may explain the phenotype of our patient were not identified as well.",
"gender": "Male"
},
{
"age": 7,
"case_id": "PMC9815528_02",
"case_text": "Following prolonged admission and inconclusive investigations, the patient's diagnosis remained unclear. Severe scarring and deformity became noticeable with time. The patient was eventually transferred to a hospital in his hometown to continue follow up and rehabilitation. He returned for follow-up for the first time after his discharge in November 2021, 7 years later at the age of 8-years-old. Then, physical examination showed numerous dyspigmented atrophic scars on the face and ulcers covered with crusts and thick yellow scales on the extremities. Saddle nose, muscle wasting, lipodystrophy and joint contractures were noted. Sadly, on his recent follow up in our clinic in November 2022 he presented a similar but more strikingly debilitating picture (Figures 3A-C). There was no involvement of the trunk or the genital area. During winter months the patient continues to suffer from febrile episodes with worsening of his skin lesions.",
"gender": "Male"
}
] |
PMC9815528
|
[
{
"age": 59,
"case_id": "PMC4119434_01",
"case_text": "A 59-year-old man with a history of chronic ankylosing spondylitis for many years, developed neck pain and left cervico-brachial neuralgia following a road traffic accident sustained one week before. Plain radiographs of cervical spine were initially misinterpreted. On examination, he had severe neck pain on mobilization without any neurological deficits. Delayed cervical computed tomography scan showed ossification of the anterior longitudinal ligament, calcification of the intervertebral discs and complete vertebral fusion (so called bamboo spine) with transversal fracture at C5-C6 disc level (so called carrot-stick fracture) causing a luxation of the cervical spine with significant compromise in canal space (A and B). A transcranial spinal traction was performed followed by anterior decompression and stabilization via an anterolateral cervical approach. The outcome was favourable. Transverse fractures of the spine are rare in patients with ankylosing spondylitis and diagnosis should be considered following even minor trauma. These atypical unstable fractures occur because of the loss of flexibility and fragility of the osteoporotic spine. Early diagnosis for possible intervention is important because of the high mortality rate.",
"gender": "Male"
}
] |
PMC4119434
|
[
{
"age": 31,
"case_id": "PMC6594286_01",
"case_text": "In our three patients:(I) a 31-year-old man, (II) a 67-year-old woman, and (III) a 40-year-old man:the mechanism of injury consisted of an ankle sprain. In patient I, the sprain occurred during a soccer match and in patients II and III it occurred while walking in the sidewalk. They went to the outpatient clinic complaining of lateral pain at the hindfoot for 24, 18, and 16 months, respectively. Previous treatments elsewhere were based only on anti-inflammatory drugs, ice, and rest. On a physical exam, there were pain and swelling over the course of the PT. In patients I and II, there were no clinical signs of ankle instability or varus of the hindfoot. In patient III, a bilateral cavovarus deformity was observed. No restriction of the range of motion of the subtalar joint was observed in any of them. Radiographic images were normal. In all MRI images, there were irreparable tears of the PB tendon and anatomical conditions were noted in patients I and II, such as low-lying muscle belly of the PB tendon and a peroneus quartus tendon, respectively. Initially, we conducted a conservative treatment for six months with physiotherapy, rest, analgesics, and ankle stabilizer to restrict inversion-eversion movements, but it was proved unsuccessful.\nThe illustrative case (patient II) was presented for the demonstration of the surgical technique (Figures 2-9). The surgery was performed with the patient placed in an oblique lateral decubitus under regional anesthesia with a nonsterile thigh tourniquet on a radiolucent operating table. The STA was harvested through a medial longitudinal incision of 3 cm at the region of the proximal lower leg with the hip externally rotated to provide a frontal view of the knee. The graft was prepared by resection of the muscle belly; then its two stumps were tubularized with a 1-0 Vicryl whip stitch. We kept the STA in its full length to ensure that the entire defect was filled after the resection of the unhealthy PB tendon (Figure 2).\nA lateral curved incision over the course of the PT was performed along the posterior border of the lateral malleolus, from 3 to 4 cm proximal to the tip of the fibula extending to the fifth metatarsal base (Figure 3). During dissection, care was taken to avoid damage to the sural nerve branches inferior to the lateral malleolus. The peroneal tendon sheath and the superior peroneal retinaculum (SPR) were opened, and PB and peroneal longus (PL) tendons were exposed. Dissection was performed proximally and extended distally to isolate the compromised portion of the tendon (Figure 4). The PB was assessed, and the nonviable portion was resected. The distal stump was debrided and totally removed to prevent local pain due to a bulky suture of the STA to the remaining distal stump, under a thin skin. The STA was sutured to the proximal stump of the native PB tendon using a Pulvertaft suture with a 1-0 Vicryl (Figure 5). The suture was performed 3 cm above the tip of the lateral malleolus to prevent the volume effect of increased pressure within the retromalleolar groove. This distance was based on previous studies which recommend to place peroneal brevis tendon tenodesis to the peroneus longus to avoid pain due to the entrapment of the suture. The distal fixation of the STA was carried out through a bone tunnel at the fifth metatarsal base to provide a bone-to-tendon fixation. Since we kept the full length of the STA, there was an adequate distal stump length remaining to fix it distally (Figure 6). The bone tunnel was drilled with a 3.2 mm drill (Figure 7) perpendicular to the long axis of the fifth metatarsal, from plantar to dorsal. The distal stump was pulled from plantar to dorsal through the tunnel and sutured back to itself with a 1-0 Vicryl (Figure 8). Alternatively, it can be fixed with a biotenodesis screw or an anchor. During the suture, the foot is positioned in neutral inversion/eversion and dorsiflexion/plantarflexion, and the tendon graft was tensioned at 50% of the maximum excursion of the PB muscle belly. The length of the reconstruction was determined at this point. The deep tissues, SPR, and skin were closed in layers. The closure of the SPR was made carefully to prevent PT subluxation. Finally, a sterile dressing and a short leg cast were applied.\nPatients remain non-weight-bearing for two weeks with the cast. At 2 weeks, sutures are removed and they are placed in a walking boot (WB) with full weight-bearing as tolerated. At this period, physical therapy is initiated focusing in the dorsiflexion/plantarflexion range of motion to prevent adhesions in the tendon graft. Inversion-eversion movements are prohibited to prevent stretching of the healing tendon graft and the subsequent development of an elongated tendon with the loss of strength. Patients are instructed to always maintain the WB except for hygiene purposes and dorsiflexion/plantarflexion exercises. The patient who underwent the calcaneal osteotomy followed the same postoperative protocol as the others. At 8 weeks postoperatively, the WB is removed and the patient is transitioned into an ankle-stabilizing orthosis. A physical therapy program is oriented to start inversion-eversion movements and to progressively restore proprioception and strengthening. The ankle-stabilizing orthosis is used progressively less accordingly to the patient rehabilitation.",
"gender": "Female"
}
] |
PMC6594286
|
[
{
"age": 67,
"case_id": "PMC6159251_01",
"case_text": "A 67-year-old male initially underwent contrast-enhanced multidetector CT of the abdomen in Sept 2014 at another hospital, which showed an incidental 4.2 x 3.9 cm mass in the upper abdomen. This was interpreted as a head of pancreas mass causing portal vein compression. The patient was asymptomatic; physical and laboratory examinations were all unremarkable.\nThe patient was lost to follow-up and did not receive any further investigation or treatment. Although still asymptomatic, he re-presented 12 months later for a repeat MDCT, which showed that the mass had increased in size to 4.8 x 5.0 cm. Cavernous transformation of the portal vein was also observed. The patient underwent exploratory laparotomy, which showed a tumour at the upper border of the pancreas and duodenum compressing the portal vein. A 1-cm lesion in the subcapsular aspect of segment II of the liver was also seen. The presumed pancreatic tumour was deemed unresectable and multiple biopsies were taken. The liver lesion was resected and the histology of both samples showed spindle cell tumour. The patient also underwent a positron emission tomography-CT, which showed the lesion to be hypermetabolic with SUVmax of 7.3. No metastatic disease was identified.\nThe patient was then referred to the hepatobiliary team in Queen Mary Hospital in Hong Kong for further assessment. The patient remained asymptomatic clinically with normal laboratory results including liver biochemistry (bilirubin 4 mumol l-1, alkaline phosphatase 54 U l-1, alanine aminotransferase 29 U l-1 and aspartate aminotransferase 23 U l-1). A repeat MDCT 2 months later showed that the lesion had a soft tissue density on non-contrast scans. The mass now measured 5.3 x 5.9 x 6.4 cm, extending from the superior mesenteric vein/splenic vein confluence to the porta hepatis. It exhibited heterogeneous enhancement with feeding vessels seen on the arterial phase, both within and around the mass. On the portal venous phase, numerous collaterals were seen surrounding the mass with a sharp interface between the mass and opacified portion of the main portal vein at the porta hepatis giving the appearance of a \"beak\" (Figure 1). The pancreatic duct was mildly dilated and measures 3 mm. The biliary tree was not dilated. There was splenomegaly measuring 13.5 cm craniocaudally. No gastroesophageal varices or ascites was appreciated. Based on these MDCT and histological findings, a preoperative diagnosis of primary leiomyosarcoma of the main portal vein was made.\nThe patient underwent Whipple's procedure and portal vein reconstruction using cadaveric graft. Intraoperative findings confirmed the tumour arising from inside the portal vein and confined to the lumen with no macroscopic evidence of disease spread. Histological examination of the tumour showed spindle cells with enlarged, pleomorphic, hyperchromatic nuclei and abundant eosinophilic cytoplasm. Patchy coagulative necrosis was also seen. Mitotic figures were at 8 per 50 high power fields, and atypical mitotic figures were found. There was focal infiltration into adjacent pancreatic parenchyma. Immunohistochemical stains showed the tumour was positive for actin, h-caldesmon and desmin but negative for myogenin, c-kit and S100 protein. The final histological diagnosis was of a primary LMS of the portal vein (Figure 2). The patient made an uneventful recovery and no adjuvant radiotherapy or chemotherapy was given. He was followed up for 4 months in our institute with no complications.",
"gender": "Male"
}
] |
PMC6159251
|
[
{
"age": 43,
"case_id": "PMC10183579_01",
"case_text": "A 43-year-old man was admitted to the intensive care unit in our hospital due to multiple open traumas caused by a traffic accident. The patient had a history of hypertension. At admission, the patient presented a constant body temperature of 36.5 C. Physical examination showed no obvious abnormality in the heart, lungs, or abdomen. He suffered multiple lacerations and fractures of the right acetabulum and inferior ramus of the pubis, accompanied by pelvic extraperitoneal hematoma. On the first day of hospitalization, he underwent surgery for multiple injuries. Based on empirical therapy, cefuroxime (1.5 g, every 8 h) was administrated for infection prevention, and anti-infective therapy with cefoperazone-sulbactam (3 g, every 8 h) and levofloxacin (500 mg, daily) was conducted for common bacteria and traumatic wet lung. On day 2, the patient developed a fever (38.4 C), with an increase of procalcitonin (PCT; 31.47 ng/ml) and lactic acid (8.58 mmol/L) after the operation. The antibiotic treatment was changed to meropenem (1.0 g, every 8 h) plus teicoplanin (0.4 g daily). On day 14, P. aeruginosa was positive in the bacterial culture of wound tissues ( Figure 1A ) and was identified as a multiple-resistant strain with antibiotic susceptibility testing (AST; Kirby-Bauer method), thus amikacin (0.4 g/day) was added to the anti-infective regimen. Despite antimicrobial therapies, a P. aeruginosa-positive blood culture was still identified as bloodstream infection on day 16; the dose of amikacin was therefore adjusted. On day 21, the patient underwent thigh amputation, surgical debridement, and drainage due to recurrent vascular rupture and aggravated cyanosis. Five days later, due to the less effective anti-infective therapy, P. aeruginosa-positive blood culture along with fever still existed; therefore, the patient received moxifloxacin to replace the teicoplanin and amikacin. Despite this management, fevers continued, and infection was still under suspicion. Ceftazidime-avibactam (2.5 g/day) was then administrated to replace the meropenem. The culture was P. aeruginosa negative for the 26th-day blood sample but still positive for wound tissues.\nDue to the uncontrolled infection, other pathogens were suspected. On day 26, tiny, nonhemolytic, and transparent colonies grew on the Columbia blood agar plate of four blood sample cultures ( Figure 1B ), possibly representing M. hominis. Gram staining of the blood smear showed no bacteria. A subculture of blood and wound tissue samples on mycoplasma medium presents as fried-egg-type colonies after 5 days of incubation ( Figure 1C ). Colonies were then identified to be M. hominis by the matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) and further confirmed by 16S rRNA sequencing (primers: 27F, AGAGTTTGATCMTGGCTCAG; 1492R, GGTTACCTTGTTACGACTT) and phylogenetic tree analysis ( Figure 2 ; GenBank Accession No. OQ642125 for a strain isolated from a wound tissue sample and OQ642126 for a strain isolated from a blood sample). On day 31, therapy with polymyxin B in a dose of 5 x 105 U/day was initiated instead of ceftazidime-avibactam due to its shortage. In addition to the initial isolates of M hominis, two subsequent cultures obtained in the following week were also positive. The AST with a commercial kit (broth dilution method, Zhongaisheng, Hebei, China) showed that M. hominis was susceptible to doxycycline, minocycline, and josamycin but resistant to azithromycin, clarithromycin, norfloxacin, ciprofloxacin, roxithromycin, sparfloxacin, spectinomycin, and levofloxacin ( Figure 1D ). Based on the results of AST, minocycline (100 mg, twice/day), meropenem plus teicoplanin were started instead of moxifloxacin on the 33rd day of hospitalization. On the 37th hospital day, the hematology data and PCT level returned to normal, and infection was controlled. After starting minocycline-based therapy for 6 days, repeated cultures from the blood were M. hominis negative. Details regarding the diagnosis and treatment are shown in Figure 3 .",
"gender": "Male"
}
] |
PMC10183579
|
[
{
"age": 36,
"case_id": "PMC7395541_01",
"case_text": "A 36-year-old otherwise healthy male presented to an outside hospital with blurred vision for few days and acute onset of aggressive behavior and agitation. While in the emergency department, he deteriorated rapidly to a Glasgow Coma Scale of 8 requiring intubation. A head computed tomography (CT) revealed a large, bifrontal extra-axial mass of the anterior skull base, measuring 52 mm x 37 mm. The lesion also involved the ethmoid cells and frontal sinuses as well as the right orbit. It was infiltrating the dura. Extended peritumoral brain edema with significant mass effect was also noted [Figure 1]. The patient was emergently transferred to our hospital. On arrival, he had fixed mid-dilated pupils, with minimal flexion movement to pain and intact corneal and gag reflexes. Laboratory tests were within normal limits. He was treated with intravenous push of high- dose dexamethasone (20 mg) and mannitol (70 g) and was immediately transferred to the operating room for a bifrontal decompressive craniectomy and tumor debulking.\nAt surgery, the tumor was found to be very vascular. On opening the dura, the brain was swollen and of firm consistency with no pulsations. A debulking operation was performed along with bifrontal decompressive craniectomy. An intracranial pressure (ICP) monitor was inserted to the parenchyma. The ICP levels were <25 mmHg on average during the postoperative course, the patient was in Glasgow Come Scale 3, with no brain stem reflexes. Postoperative head CT demonstrated persistent, bilateral, massive edema, the patient's condition remained critical and he passed away 1 week later.\nHistological examination for hematoxylin and eosin stain showed a tumor comprised small to medium size cells, some of them with clear cytoplasm. Rhabdoid cells were not noted. The tumor shows areas of necrosis and high levels of mitotic and apoptotic activity [Figure 2a and b]. The stain for INI1 was negative (loss of expression) [Figure 2c]. Immunohistochemical stains were diffusely and strong positive for epithelial membrane antigen (EMA) [Figure 2d] and P63, partially positive for smooth muscle antigen (SMA) [Figure 2e], glial fibrillary acidic protein (GFAP) [Figure 2f], B-cell lymphoma 2, and vimentin (VIM), focally positive for pan-KER and KER 8, and negative for OLIG2, S100, desmin, synaptophysin, NEU-N, and chromogranin. The proliferative index Ki-67 was 25-30%. The initial diagnosis was ATRT. Later, the possibility of SMARCB1-deficient sinonasal carcinoma was added as a differential diagnosis.",
"gender": "Male"
}
] |
PMC7395541
|
[
{
"age": 42,
"case_id": "PMC3558351_01",
"case_text": "A 42-year-old man was hospitalized with sudden-onset weakness in both lower extremities. The patient had been treated with isoniazid 300 mg, rifampin 450 mg, and ethambutol 800 mg daily for pulmonary tuberculosis during the past two months. He had no history of exposure to antituberculosis antibiotics before beginning therapy. His compliance to antibiotics was excellent after the treatment for pulmonary tuberculosis and he denied the interruption on these regimens. He reported no constitutional symptoms, history of hyperthyroidism or paralysis.\nA physical examination indicated that the muscle strength of the lower extremities was 2/5 of normal. The rest of the physical examination was unremarkable. A chest radiograph revealed reticular opacities on the bilateral upper lung fields, consistent with pulmonary tuberculosis. His laboratory data included hemoglobin 13.0 mg/dL, leukocyte count 9900/muL, and platelet count 290,000/muL. His biochemical data for serum and urine on admission are shown in Table 1. Profound hypokalemia, hypophosphatemia, and hypouricemia were present. Serum pH, bicarbonate level and anion gap indicated hyperchloremic metabolic acidosis with normal anion gap. The urinary anion gap was positive (10.2 mEq/L), suggesting the presence of renal tubular acidosis. Urinalysis showed normoglycemic glucosuria, beta2-microglobulinuria, pH 5.5, 2.5 g/day proteinuria and microscopic hematuria. The fractional excretion of potassium was 29.3% (normal range, 4%-16%); the calculated ratio of the maximal tubular transport of phosphate reabsorption to the glomerular filtration rate (TmP/GFR) was 0.24 mg/dL (normal range, 2.3-4.3 mg/dL); and the fractional excretion of uric acid was 77.4% (normal range, 6%-20%). Generalized hyperaminoaciduria was detected with liquid chromatography-tandem mass spectrometry. These findings suggest generalized proximal tubular dysfunction with wasting of bicarbonate, glucose, protein, potassium, phosphate, and uric acid.\nAdditional blood tests were performed to determine other possible causes of the patient's hypokalemia. His plasma renin activity and serum level of aldosterone were 21.6 ng/mL/h and 30.5 ng/dL, respectively. His thyroid-stimulating hormone and free thyroxine levels were within the normal ranges. Serum and urinary protein immunoelectrophoresis showed no evidence of monoclonal gammopathy, and immunological surveys of autoantibodies were negative. The patient's reticulocyte count, serum lactate dehydrogenase, and liver enzymes levels were within the normal ranges.\nAn ultrasonographic examination showed a normal-sized kidney, with slightly increased echogenicity in the bilateral renal parenchyma. A renal biopsy showed extensive mononuclear cell infiltrates, including epithelioid histiocytes and eosinophils, mild interstitial fibrosis, and tubular atrophy (Figure 1A and B). Ziehl-Neelsen staining for acid-fast bacilli and PCR detection of Mycobacterium tuberculosis in the renal biopsy specimen were negative. Focal granular deposits of immunoglobulin A (IgA) and complement 3 (C3) were demonstrated in the tubules (Figure 1C and D). The same immunofluorescent positivity was also shown in glomerular mesangium, and electron microscopy showed electron-dense deposits in the subendothelial and mesangial spaces (Figure 1E and F). These findings were consistent with IgA nephropathy accompanied by focal immune deposits along the tubules. Half the epithelial foot processes were effaced, and there were no pathological findings in the mitochondria.\nPotassium chloride supplementation was given to treat the patient's hypokalemic paralysis. His muscle strength increased one day after potassium chloride supplementation. We substituted rifampin with levofloxacin, but his other antituberculosis antibiotics remained the same. Supplementation with potassium chloride and sodium bicarbonate was continued, and the patient was discharged on hospital day 14. The biochemical markers associated with Fanconi syndrome were significantly resolved, and he experienced no paralytic symptoms after discharge. His proteinuria and microscopic hematuria was also improved, and we discontinued supplementation with potassium chloride and sodium bicarbonate at the three-month follow-up. The patient's renal function and proximal tubular function remained stable at the last follow-up.",
"gender": "Male"
}
] |
PMC3558351
|
[
{
"age": 53,
"case_id": "PMC5377292_01",
"case_text": "A 53-year-old man presented with a one year history of postprandial abdominal discomfort. Past medical history was positive for diabetes mellitus treated with linagliptin. His body mass index was 27.4 kg/m2. The physical examination was unremarkable. His serum CEA and CA19-9 levels were within normal limits. Total colonoscopy showed a 14 mm sessile polyp in the sigmoid colon and polypectomy was performed. Pathological evaluation showed a well-differentiated adenocarcinoma invading more than 1000 mum in the submucosa with both vertical and horizontal resection margins positive.\nLaparoscopic sigmoid resection was planned and a contrast enhanced computed tomography scan was obtained preoperatively which showed the small bowel and colon on the right and left sides of the abdominal cavity, respectively. The ileocolic artery (ICA) and the inferior mesenteric artery (IMA) originated from a common channel which branched directly from the abdominal aorta (Fig. 1, Fig. 2). Laparoscopic sigmoid resection with a D2 dissection was performed using typical trocar placement (Fig. 3). Non-rotation of the intestine was confirmed at surgery. The ascending colon was free from the retroperitoneum but the descending colon was attached to the retroperitoneum and the sigmoid colon and rectum seemed anatomically normal. The IMA was divided after exposure of the common arterial channel and its branches, the ICA and the IMA. There were no technical difficulties due to intestinal malrotation. The patient did well postoperatively and was discharged on seventh postoperative day.",
"gender": "Male"
}
] |
PMC5377292
|
[
{
"age": 29,
"case_id": "PMC7566195_01",
"case_text": "A 29-year-old female was referred to our hospital with the suspicion of mucinous cystic neoplasm of the liver. The patient had no previous medical history including drug history, family history, and psychosocial history. The tumor was located at the segment III in the form of compressing the root of the Glissonean pedicle of segment III (Fig. 1). In addition, the computed tomography and magnetic resonance imaging revealed the potential risk of malignancy, therefore we decided to perform laparoscopic left hepatecomy instead of left lateral sectionectomy. Hepatic functional reserve was normal with indocyanine green (ICG) retention rate at 15 min of 5.9% and the Child-Pugh grade A (score 5).\nThe patient was placed in the supine position with the operator between the legs and the assistant and scopist at the left side. Four trocars technique was introduced at the umbilical portion for the camera and the both subcostal areas for the operator and assistant (Fig. 2). Firstly the left lateral lobe was mobilized with transection of the Falciform ligament and left triangular ligament. After cutting off the Arantius's ligament, the left extrahepatic Glissonean pedicle was encircled. Secondly the liver dissection line was marked on the ischemic demarcation line after clamping the left Glissonean pedicle. Intermittent Pringle's maneuver was applied for inflow control using a tourniquet system at the right subcostal area (Fig. 2). The liver parenchyma was dissected using the Cavitron Ultrasonic Surgical Aspirator (CUSA) and Ultrasonic shears (Ligasure).\nThe overview of our novel modified hanging maneuver is represented in Fig. 3. For this hanging technique, the upper edge of the hanging tape was placed on the lateral side of the LHV, and fixed with the Falciform ligament using clips (Fig. 4a). The hanging tape was positioned along the left side of the middle hepatic vein, and the lower edge of the hanging tape was extracted along the tourniquet for the Pringle's maneuver (Fig. 4b). This hanging technique does not require assistance by an assistant for hanging the tape up. Moreover, the hanging tape can be controlled extraperitoneally. During the liver parenchyma dissection, the hanging tape was pulled out not only to control the bleeding from the outflow, but also to expose a better surgical field. In addition, the hanging tape was used as a guide toward the root of the LHV.\nFinally the left Glissonean pedicle and LHV were divided with the stapler, and the specimen was extracted through the Pfannenstiel incision. The total operative time was 280 min, including the Pringle's maneuver for 45 min, and the estimated blood loss was 35 mL.\nThe patient was discharged on postoperative day 7 without any complications. The final pathological examination of the liver specimen was diagnosed as mucinous cystic neoplasm of the liver without malignancy.",
"gender": "Female"
}
] |
PMC7566195
|
[
{
"age": 0,
"case_id": "PMC4809441_01",
"case_text": "A purplish reticulated vascular network, phlebectasia, and telangiectasia were observed at birth of a female of 39+3 gestational weeks, suggesting a diagnosis of CMTC. The lesions were located on the entire back, most of the buttocks, right half of the front of the trunk (with a clear demarcation from the unchanged skin right in the midline), right thigh, and left knee (Fig 1). The lesion was made more distinct when the baby was crying, during vigorous activity, and when cold. Additionally, the hyperpigmented patches, which were considered Mongolian spots, partly intermingled with the lesions of CMTC, were located on the right upper back, the mid-spine, and the lumbosacral region (Fig 2). Extremities were symmetrical, with no atrophy or hypertrophy of soft tissue. The infant showed normal mental and physical development. Her parents were not consanguineous. The first child of the family is a healthy boy, who was 20 months old at the time of writing.\nRegularly monitored laboratory, hematologic, biochemical analysis and chromosomal microarray detection were unremarkable. Histopathologic examination on the right side of the thigh found numerous dilated capillaries and venules in the dermis (Fig 3).\nGiven the constellation of clinical findings, PPV type V or phacomatosis cesiomarmorata was diagnosed. There are few cases reported in the literature of this kind of PPV.",
"gender": "Female"
},
{
"age": 0,
"case_id": "PMC4809441_02",
"case_text": "In a follow-up examination when the infant was 2 months old, her mother reported that the child's legs trembled occasionally with no obvious cause. However, magnetic resonance imaging of the brain was unremarkable. The skin changes of CMTC had almost disappeared, while the Mongolian spots were persistent (Fig 4).",
"gender": "Female"
}
] |
PMC4809441
|
[
{
"age": 59,
"case_id": "PMC6938193_01",
"case_text": "A 59-year-old lady presented with a large full-thickness MH in her left eye. The minimum size of the MH was 553 microm, and the basal diameter was 1100 microm (Figure 4A). Her initial visual acuity was 20/100. Pars plana vitrectomy with hemicircular ILM peeling with nasally hinged flap (the technique used for group A) was performed, and the MH was closed 1 week postoperatively. One month after surgery, visual acuity improved to 20/50. An area of hyperreflective tissue on the inner retinal surface and nasal to fovea was seen on OCT, which corresponded to the location of the inverted ILM flap (Figure 4B). At 3 months, visual acuity improved to 20/40 with improvement in EZ irregularities. Besides outer retinal regeneration, some degree of inner retinal dimpling at the temporal side was observed at 3 months after surgery (Figure 4C). After 6 months of follow up, visual acuity improved to 20/30.",
"gender": "Female"
},
{
"age": 65,
"case_id": "PMC6938193_02",
"case_text": "A 65-year-old man presented with a large full-thickness MH with a minimal diameter of 744 microm and basal diameter of 1337 microm (Figure 5A). The initial visual acuity was 20/400. Pars plana vitrectomy with circular ILM peeling and superior inverted flap (the technique used for group C) was performed. The MH was closed 1 week after surgery. Visual acuity improved to 20/200 at 1 month postoperatively. OCT showed closed MH with two hyporeflective spaces, created by the inverted flap (Figure 5B). At 3 months after surgery, these spaces were filled with regenerated tissue with improved foveal contour (Figure 5C). Visual acuity was 20/63. Six months after surgery, visual acuity improved to 20/40, and a small defect in the ellipsoid zone with atrophic inner retinal changes was seen on OCT. Although the peeling was circular and involved both the temporal and nasal sides of fovea, inner retinal dimpling was most prominent at the temporal side (Figure 5D).",
"gender": "Male"
}
] |
PMC6938193
|
[
{
"age": 12,
"case_id": "PMC9873479_01",
"case_text": "A 12-year-old boy was a belted backseat passenger in a high-speed frontal car collision, a multitrauma with injury to abdomen with intestine involvement requiring surgery, a Chance fracture of L3, and AOD. The patient was neurologically intact with severe neck pain apart from his other injuries. The initial CT showed no fractures in the cervical spine, but hematoma posterior to the clivus, BDI 10 mm, CCI 5.5 mm, and subluxation C0-C1 suggesting a ligamentous injury of the CCJ ( Fig. 2 ). MRI revealed rupture of the tectorial membrane, and rupture and elongation of the alar ligaments ( Fig. 2 ). The patient was operated with temporary C0-C2 fixation via muscle-preserving approach and navigation ( Fig. 3 ). The implants were removed at 10 months, and after that MRI confirmed normal appearance of the soft tissues of the CCJ. Follow-up was at 3 and 11 months after implant removal. The patient was free of symptoms, had no neck pain, and is fully active. To assess stability and motion, CT in rotation, flexion-extension radiographs, and MRI were obtained. CT showed normal CCI and BDI, and 44 degrees of C1-C2 rotation (22 degrees dexter, 22 degrees sinister) at follow-up at 3 months. At 11-month follow-up, CT in rotation showed 39 degrees of C1-C2 rotation (21 degrees dexter, 18 degrees sinister). MRI showed good visualization of alar ligaments, assessed as radiologically intact, and the tectorial membrane was at normal position. Flexion-extension radiographs showed no excess C0-C1 movement.",
"gender": "Male"
},
{
"age": 7,
"case_id": "PMC9873479_02",
"case_text": "A 7-year-old girl was hit by a car as she got off a bus. Apart from AOD she sustained a head concussion, an undisplaced acetabular fracture, and a liver contusion. She was initially a little lethargic, but awake and neurologically intact. CT revealed increase in BDI and CCI, an asymmetrical widening of the neurocentral synostosis of C2, displacement of the tip of the odontoid, and a retroclival hematoma. MRI showed a rupture of the tectorial membrane. A temporary C0-C2 fixation was performed with implant removal after 4 months. A long-term follow-up, including MRI in rotation, was made after 8 years. At this time the patient had no cervical symptoms and had a clinically normal range of cervical motion. An MRI of C1-C2 showed that the alar ligaments and tectorial membrane were normal and rotation MRI of the CCJ showed 30 degrees of motion in C1-C2 segment (9 degrees dexter, 21 degrees sinister), shown in Fig. 4 . \nSurgical technique : Navigated C0-C2 muscle-preserving fixation. \nThe main goal is to achieve a temporary rigid fixation from the occiput to the C2-vertebra without major injury of the C2 muscles.\nThe following six steps are made during the procedure: 1st step: To access the deep muscles of the neck with midline approach. 2nd step: To make space for C0 plates and screws with partial muscle removal. 3rd step: Make space for attachment of navigation reference on C2 spinal process without injury of muscles. 4th step: C2 pedicle screws placement using navigated probe or drill. 5th step: Tunneling of the rods under the muscles. 6th and final step: Attachment of C0 plates.\n1st step : A midline posterior skin incision is made from the occiput to the C3 spinal process to provide access from the occipital protuberancia all the way to the C3 vertebra. Then, splitting of the nuche ligament is performed from occiput to C3 spinal process. Once the nuche ligament is split, one can easily dissect the connective tissue between nuche and the C2 spinal process without injury of the superficial muscles of the neck. The muscles are then moved laterally as shown in Supplementary Fig. S1 (online only). \n2nd step : Access to the occipital protuberancia is made by exposing the midline portion of occiput and approximately 1.5 to 2 cm laterally. This means removal of the insertion of the rectus capitis posterior minor muscle and partial removal of semispinalis capitis muscle. The goal is to make enough space for occipital plates and rods as shown in Supplementary Fig. S2 (online only); then, one continues dissection deep toward the C1 arch and the posterior tubercle of atlas to remove the origin of rectus capitis posterior minor muscle approximately 1 cm laterally from midline. Once C1 arch is exposed, one can easily access the space between C1 arch and the C2 spinal process and exposure of the epidural membrane C1-C2 as shown in Supplementary Fig. S2 , (online only). \n3rd step : Attachment of navigation reference to C2 is made by access of the interspinal space of C2-C3 and free cranial margin of C2. A midline dissection of C2-C3 will make space for the navigation reference which is attached to C2 spinal process as shown in Supplementary Fig. S3 (online only). \n4th step : O-arm scan is now performed with reference on C2 spinal process. Correct entry point of C2 pedicles are now located by using navigation and exposing the bony entry point on C2 with sharp neural dissector. Navigated pedicle probe is helpful due to the small pedicles of pediatric C2 pedicles. Screws are then placed without too much injury of muscle tissue and attachments. The rectus capitis major, obliquus inferior, and the cervicis spinalis muscles are attached to the C2 spinal process, in some cases they can be split without too much injury of the muscle. \n5th step : Rod placement is made by first making a tunnel under the rectus capitis posterior major muscle and the obliquus capitis inferior muscle. This is done by a sharp neural dissector from the screws in following the lamina of C2 in direction of C1 midline. This needs to be done with care, shown in Supplementary Fig. S4 (online only) by the blue rubber bands. Once rods are measured they can be inserted in craniocaudal direction under the muscles and attached to C2 screws. \n6th step : Final step is adding the occipital plate to the rods and fixations of plates in midline of the occiput as shown in Supplementary Fig. S4 (online only).",
"gender": "Female"
}
] |
PMC9873479
|
[
{
"age": 11,
"case_id": "PMC7074520_01",
"case_text": "An 11-year-old castrated male domestic shorthair cat was presented to the emergency service of the University of Missouri Veterinary Health Center (MU-VHC) for anorexia, lethargy and an apparent seizure in May 2019. Approximately 1 week prior to presentation, the cat had a suspected altercation with an unidentified animal. The owners cleaned a puncture wound to the neck and applied antibiotic ointment; the cat seemed relatively normal until 3 days prior to presentation.\nHyporexia prompted a visit to the primary care veterinarian, where there were no abnormalities on examination other than a temperature of 104oF (40oC). Point-of-care retroviral tests were negative, hematocrit was 40% and no parasites were identified on peripheral blood smear examination. The cat was discharged with pradofloxacin but re-presented the following day for complete anorexia and worsened lethargy. Fever was unchanged and mild icterus was now identified. A complete blood count (CBC) demonstrated a hematocrit of 31% with mild neutropenia (2.11 x 103/mul; reference interval [RI] 2.5-12.5 x 103/mul) and platelet aggregates; no parasites were identified. Subcutaneous crystalloid fluids were administered, but the cat was not hospitalized. The following morning, the cat experienced what the owners described as a seizure, prompting the emergency visit to MU-VHC. The cat, which had survived cytauxzoonosis 7 years prior, lived on several wooded acres adjacent to Mark Twain National Forest in Cherryville, MO, USA, and was treated regularly with a combination product containing fipronil, etofenprox and (S)-methoprene (Frontline Tritak; Merial).\nOn presentation at MU-VHC, the cat's temperature was 104oF (40oC), pulse 180 beats per min, respiratory rate 24 breaths per min and was judged to be 6% dehydrated. There were no obvious wounds. Mucus membranes were pale and mildly icteric. Complete neurologic examination findings were not recorded, but the cat was reported to be dull and lethargic. Abnormalities on plasma chemistry profile included hyperglycemia (179 mg/dl; RI 80-155 mg/dl), hyponatremia (140 mEq/l; RI 148-154 mEq/l), hypochloremia (108 mEq/l; RI 112-123 mEq/l), hypokalemia (3.0 mEq/l; RI 3.1-4.6 mEq/l), hypocalcemia (8.4 mg/dl; RI 8.6-10.4 mg/dl) and hyperbilirubinemia (2.6 mg/dl; RI 0.1-0.2 mg/dl). Abnormalities on CBC included marked thrombocytopenia with few platelet clumps identified (10 x 103/mul; RI 166-466 x 103/mul), neutropenia (1.82 x 103/mul; RI 2.2.7-9.82 x 103/mul) and moderate numbers of intraerythrocytic signet ring-shaped inclusions compatible with C felis (Figure 1). Hematocrit was again 31%.\nBased on a suspected diagnosis of cytauxzoonosis and the associated costs for treatment, the owners opted against specific therapy and took the cat home. After their cat experienced several additional seizures later that same day, they arranged for an at-home euthanasia. Based on our discussions about the unique nature of repeat cytauxzoonosis, the owners requested that the veterinarian performing euthanasia harvest a small sample of liver and spleen to be shipped in formalin to the MU Veterinary Medical Diagnostic Laboratory for confirmation of the suspected diagnosis.\nOn hematoxylin and eosin stain of prepared tissues, portal tracts were infiltrated by small numbers of lymphocytes, macrophages and plasma cells. Marked lymphoid depletion of the splenic white pulp was noted. Mild extramedullary hematopoiesis was identified in the parenchyma of both the spleen and liver. Although modest in numbers, schizont structures typical of the protozoan C felis were recognized in hepatic arterioles and sinusoids, as well as in splenic sinusoids (Figures 2 and 3). Formalin-fixed paraffin-embedded tissues (from this case and a non-infected cat as a negative control) were sent to North Carolina State University for the molecular detection of C felis. Slides were heated to remove paraffin and total DNA was extracted. Partial C felis cytochrome oxidase C1, 18S rRNA and mitochondrial large ribosomal subunit-4 genes were amplified from the infected cat but not the control (see supplementary material for methodologic detail).\nIn May of 2012, the same cat had been hospitalized at MU-VHC for treatment of acute cytauxzoonosis. Diagnosis was based on a typical presentation, including acute onset of anorexia and lethargy, high fever, pancytopenia, hyperbilirubinemia, hyperglycemia, panhypoproteinemia and multiple electrolyte abnormalities, as well as cytologic identification of numerous typical red blood cell (RBC) piroplasms. Engorged ticks were found on the cat at the time of diagnosis. Treatment included atovaquone and azithromycin, as well as intensive in-hospital supportive care, including multiple blood transfusions, thoracocentesis to relieve pleural effusion, and placement of an esophagostomy tube to facilitate feeding and medication administration. Despite a complicated clinical course, the cat was discharged after 9 days. It recovered completely, and a single CBC performed 2 weeks after hospital discharge failed to identify any parasites.",
"gender": "Male"
}
] |
PMC7074520
|
[
{
"age": 54,
"case_id": "PMC5591568_01",
"case_text": "A 54-year old athletic male was a helmeted cyclist on a street race bicycle, when he fell over the handlebars and struck his head directly on cemented ground, sustaining a hyperflexion injury to his neck. He was able to get up at the accident scene and pushed his bicycle to the closest meeting point. Due to severe neck pain, he asked a friend to call an ambulance. He was initially brought to a local hospital in the Rocky Mountain region, where a CT of the head and cervical spine was obtained. The patient was placed in a C-collar and transported by ambulance to our level 1 trauma center for definitive management of his cervical spine fracture. Upon arrival, the patient was awake and alert with a GCS of 15. He stated to have felt some tingling sensation in his right hand after the accident, which apparently subsided by the time of his presentation to our hospital. His clinical exam demonstrated full symmetric motor strength (M5/5) in all four extremities, a normal rectal tone and bulbocavernosus reflex, and minimal hypoesthesia in the small finger on the right hand, related to the C8 dermatome. The review of his CT scan from the outside facility revealed a complex multi-level fracture-dislocation of the cervical spine from C6 to T1, with rotational instability (AO/OTA classification 51-C2.1). The injury pattern included a C7/T1 fracture-dislocation (Fig. 1a) with a left-side locked/perched facet at C6/C7 (Fig. 1b,c), a right side facet fracture-dislocation at C7/T1 (Fig. 1d), and a \"saving\" traumatic laminotomy at C6 and C7 on right side (Fig. 1e,f). A CT-angiogram was obtained which demonstrated a grade 1 intimal tear to the left vertebral artery at the C6 level. In light of the highly unstable fracture pattern, we decided to apply a Halo fixator for temporary external fixation. The Halo application was performed under local anesthesia without any closed reduction attempts, in order to mitigate the risk of an iatrogenic compression of the spinal cord. The patient was kept awake throughout and reported no change in symptoms. Thereafter, an MRI of the cervical spine was obtained for advanced imaging and preoperative planning. The MRI demonstrated a complete disruption of the annulus fibrosus of the C7/T1 intervertebral disc, a disruption of the anterior longitudinal ligament (ALL) and posterior longitudinal ligament (PLL) at the same level, and a complete extrusion of the C7/T1 disc into the spinal canal, positioned behind the C7 vertebral body (Fig. 1g,h). The interspinous ligament was disrupted at C6/C7, and there was mild spinal canal stenosis at C6/C7 without signs of cord compression or contusion. \nThe posterior perched facet requiring posterior approach and open reduction to restore anatomic sagittal alignment of the spine;\nThe extruded disc at C7/T1 requiring a C7 corpectomy and decompression through an anterior approach;\nThe sequence of surgery being dictated by the intraspinal disc which requires (1) anterior decompression, followed by (2) posterior fracture reduction, and ultimately (3) an anterior completion fusion after posterior reduction and instrumentation.\nA surgical plan was designed based on the following considerations: \nAs part of the preoperative shared decision-making process for surgery, the patient understood the detailed plan and the risks of intra- and postoperative complications. He agreed to proceed with surgery and provided a written informed consent. We took him to the operating room the next day for the 3-stage procedure under continuous neurophysiological monitoring. In supine position, the cervical spine was exposed from C6-T1 through a standard left side anterior Smith-Robinson approach. The dislocation at C7/T1 was visualized and the intervertebral disc at this level was obliterated, as expected from the preoperative MRI findings. A C7 corpectomy was performed which allowed decompression of the spinal canal by removal of the extruded intervertebral disc. The anterior wound was then closed temporarily. Under strict log-roll precautions, using the Halo ring for axial traction, the patient was carefully moved into prone position, for the 2nd stage of the procedure. We then performed a standard posterior approach from C4-T2. A completion laminectomy was performed through the laminar fractures at C6 and C7, for posterior spinal canal decompression. The perched facet at C6/C7 on the left and the facet fracture-dislocation at C7/T1 on the right were anatomically reduced, and a left side C6/C7 facetectomy was performed, which resulted in adequate rotational and sagittal alignment of the cervical spine. Spinal fixation was performed by posterior instrumentation with placement of lateral mass screws at C4, C5, C6, and pedicle screws at T1 and T2. The posterior wound was closed, and the patient was log-rolled back into supine position for the 3rd stage of the procedure. The previous anterior cervical wound was re-opened. The exposed dura was visualized through the preceding C7 corpectomy, and a 2-level anterior fusion from C6-T1 was performed with a PEEK cage filled with autograft bone from the resected C7 vertebra, and placement of a 2-level anterior locking plate (Fig. 2). The anterior wound was then closed, the Halo was removed, and the patient was transitioned into a cervical collar. He tolerated the procedure well and was extubated in the operating room. His neurological exam was normal and the hypoesthesia in the right C8 dermatoma resolved postoperatively (Fig. 3). The grade 1 vertebral artery intimal injury was managed conservatively with 325 mg acetylsalicylic acid (Aspirin) for three months. The patient was mobilized with physical therapy and discharged home on the 2nd postoperative day. He remained in a cervical collar for 6 weeks and was allowed to remove the collar for showering only during that period of time. The patient resumed full activity at three months. He was back riding his bicycle at 7 months, and by 10 months after surgery he had returned to competitive street bicycle racing in the 100 mile \"Elephant Rock Century Ride\" in Castle Rock, Colorado (Fig. 4). The patient remained asymptomatic and continued his work as a financial consultant as well as unrestricted physical activity and exercises, including regular participation in competitive bicycle races, at follow up 7 years after the accident.",
"gender": "Male"
}
] |
PMC5591568
|
[
{
"age": 32,
"case_id": "PMC4898005_01",
"case_text": "A 32-year-old male presented with new-onset slurred speech of three weeks' duration. The patient had a known case of Wilson's disease on znc therapy (50 mg TDS). The ceruloplasmin level was very low, at 4 mg/dl. No features of jaundice or cirrhosis were seen to suggest marked hepatic involvement. No evidence of significant abnormalities were seen on liver function tests. No features of tremors, dystonia, or dysphagia were seen. No prior CT or MRI studies were available for comparison.\nAn MRI study revealed marked T2 and FLAIR hyperintense lesions involving bilateral thalami, midbrain, and pons (Figure 1A, Figure 1B, Figure 1C, Fig 1D, Fig 1E). The lesions were hypointense on T1-weighted sequence and showed no evidence of restricted diffusion or postcontrast enhancement. Minimal involvement of the lentiform nuclei was seen. No significant involvement of the caudate nuclei, cerebellar white matter, centrum semiovale, or subcortical white matter was seen.",
"gender": "Male"
}
] |
PMC4898005
|
[
{
"age": 54,
"case_id": "PMC4821337_01",
"case_text": "A 54 year old female with a history of celiac disease was on treatment with proton pump inhibitors (PPI) for her new onset of reflux symptoms. Upper gastrointestinal endoscopy was unremarkable. Esophageal manometry and motility studies revealed a hypertensive lower esophageal sphincter with mild esophageal dysmotility, suggestive of achalasia. PPIs were continued on a twice daily basis. She also received endoscopic injections of botulinum toxin in the lower esophageal sphincter (LES) with partial and transient relief of symptoms. Six months following the onset of her reflux symptoms, she developed slowly progressive shortness of breath and cough. A chest radiograph showed bilateral interstitial thickening. A high-resolution computed tomography (CT) of the chest revealed a bilateral prominent interstitial reticular pattern predominantly in the lower lobes and subpleural regions with mild honeycombing (Fig. 1), consistent with IPF. Pulmonary function tests (PFTs) showed an FVC of 61%, FEV1 of 64% and FEV1/FVC of 106% suggestive of a restrictive pattern. Total lung capacity and vital capacity were diminished, the residual volume to total lung capacity ratio was elevated at 122% and the diffusion capacity for carbon monoxide was diminished at 39%. Video assisted thoracoscopic lung biopsy showed chronic active interstitial pneumonitis and fibrosis with maximal changes beneath the pleura. Histopathology demonstrated a usual interstitial pneumonia (UIP) pattern, corresponding to the clinical diagnosis of IPF (Fig. 2). PPIs were continued and she also followed the lifestyle changes advised for GER. She was placed on a trial of N-acetyl cysteine without obvious benefit.\nOver the next year, while stable symptomatically, PFTs showed a gradual decline in lung volumes, forced vital capacity and diffusion capacity. In the next few months, she developed progressive worsening shortness of breath. A repeat CT of the chest demonstrated bilaterally increasing interstitial fibrosis and traction bronchiectasis (Fig. 3). Since she also had progressive reflux symptoms despite medical treatment, she underwent a laparoscopic Heller's myotomy (LHM) with Dor fundoplication. In the next three months her reflux symptoms worsened, and she deteriorated with severe shortness of breath and hypoxia, requiring continuous nasal oxygen. A double contrast barium swallow revealed no evidence of a leak and persistent dilatation at the region of fundoplication (Fig. 4). Gastric emptying studies showed no delay. Repeat imaging revealed severe extensive honey combing and air trapping with superimposed ground glassing (Fig. 5). Her respiratory status continued to decline and she died of respiratory failure.",
"gender": "Female"
}
] |
PMC4821337
|
[
{
"age": 50,
"case_id": "PMC3785351_01",
"case_text": "We describe the case of a 50-year-old white male with small bowel Crohn's disease initially admitted with nausea and abdominal distention secondary to a small bowel obstruction. The patient has a 30 year history of Crohn's disease involving the jejunum and terminal ileum with multiple proximal small bowel strictures. He has had an appendectomy and back surgery in the past but was never treated surgically for his Crohn's disease. He was on maintenance therapy with Azulfidine and Azathioprine. The patient was started on Infliximab in November 2005 after multiple admissions for small bowel obstruction. The patient was changed to Adalimumab in May 2007 for patient convenience and difficulty related to obtaining regular intravenous access. He denied any recent antibiotic use.\nComputerized tomography scanning on admission demonstrated a small bowel obstruction with thickened and edematous small bowel in the right lower quadrant 8-10 cm from the ileocecal valve with a small amount of ascites and no evidence of abscess. A nasogastric tube was placed for decompression and the patient was placed on solumedrol 20 mg intravenous (iv) every eight hours along with aggressive iv hydration and pain management with hydromorphone. The patient initially improved on hospital day number one. On the morning of hospital day number 2, the patient was reported to be febrile to 39.4 oC and tachycardic. The patient was complaining of increased pain and on exam had significantly increased tenderness with absent bowel sounds. At that time, the blood culture drawn on admission was reported as growing Escherichia coli, Enterococcus fecalis and Klebsiella oxytoca. The patient was started on intravenous antibiotics (ampicillin/sulbactam and gentamicin) and taken for an emergent laparotomy. He was found to have a perforation with a free abdominal abscess and a partial small bowel obstruction of the jejunum. The patient underwent a small bowel resection with jejunojejunal anastamosis and a right hemicolectomy with ileocolonic anastamosis and ileostomy. The pathology revealed a T4N1 poorly differentiated adenocarcinoma of the jejunum. The patient did well clinically post-op however a routine blood culture drawn for fever on post-op day number one grew Clostridium difficile. The patient denied significant diarrhea. Subsequent stool studies sent for Clostridium difficile toxins A/B were negative. At that time, the patient had received four days of antibiotics. The patient was maintained on pipercillin-tazobactam. All other follow-op blood cultures were unremarkable. The patient received a total of 21 days of intravenous antibiotics (6 days of ampicillin/sulbactam and gentamicin followed by 15 days of pipercillin-tazobactam). The remainder of his post-op course was unremarkable and he made a full recovery.",
"gender": "Male"
}
] |
PMC3785351
|
[
{
"age": 70,
"case_id": "PMC4899547_01",
"case_text": "In September of 2012, a 70-year-old female presented with erythema and induration in the left arm that she presumed was caused by a recent mosquito bite. The patient's past medical history revealed left-sided breast cancer that was treated with mastectomy and lymph-node dissection, chemotherapy, and radiation therapy six years earlier. The new presenting lesion appeared on the ipsilateral side as her left mastectomy. The patient's initial assessment was thought to be cellulitis of the left arm, and she was treated with multiple courses of antibiotic therapy for two months with no significant improvement. An incision and drainage at that point did not demonstrate any purulent drainage. Approximately one month later, multiple blue satellite lesions developed within the area of erythema and induration. The mass also advanced in size at a rapid rate, to 20 centimeters in circumferential length extending from the proximal arm down to the elbow. The enlarging plaque of coalescing purple papules appeared necrotic, with multiple small satellite lesions that had erupted within the plaque (Fig. 1).\nAfter biopsy of the lesion, histology results confirmed an angiosarcoma. The patient was consequently treated with multiple doses of chemotherapy. Since the diagnosis and treatment of the left-arm angiosarcoma, both the size of the mass and metabolic activity on CT/PET imaging showed significant improvement without evidence of metastatic disease.\nMagnetic resonance imaging (MRI) performed after the initial incision and drainage revealed marked edema-like signal with decreased signal on the T1-weighted sequence and increased signal on the T2-weighted images involving the subcutaneous soft tissues of the arm, without muscle or osseous involvement (Fig. 2).\nA subsequent PET/CT scan after the biopsy confirmed an angiosarcoma for staging purposes that demonstrated marked hypermetabolism. It was associated with severe subcutaneous edema confined to the left arm without evidence of adenopathy or distant metastasis (Fig. 3).",
"gender": "Female"
}
] |
PMC4899547
|
[
{
"age": 70,
"case_id": "PMC5838830_01",
"case_text": "A 70-year-old male presented with bilateral upper thigh pain of 20 years duration that progressed over the last 3 years. Although neurologically intact, the MRI documented an L1/conus medullaris intradural, nonenhancing, thin-walled, cystic lesion resulting in significant cauda equina compression. He underwent an L1-L2 laminectomy with intradural resection of two lesions that were adherent to the conus. Following careful resection/dissection, he remained neurologically intact, and was still asymptomatic 1 year later [Figures 1 and 2]. Pathologically, the lesions proved to be NECs typified by simple ciliated columnar epithelium [Figure 3].",
"gender": "Male"
}
] |
PMC5838830
|
[
{
"age": 46,
"case_id": "PMC9353025_01",
"case_text": "Mr. A was a 46-year-old single, male.\nChronic pain in the left maxillary and right mandibular molar regions (according to him, due to gingival recession caused by periodontal treatment), occlusal discomfort (specific teeth unidentified), extracted teeth, teeth sticking to the lips, occlusal instability, difficulty in opening the mouth, eating, and speaking.\nNone.\nHe began visiting a nearby dental clinic in 2018. On May 7, 2019, he was referred to the clinic of periodontics at the Tokyo Medical and Dental University dental hospital by the nearby dentist due to problems with oral hygiene instructions owing to complaints such as \"gingival damage due to tooth brushing\" and many other complaints (e.g., occlusal instability, difficulty eating, difficulty speaking). At the clinic, he mentioned that his teeth were sensitive to cold water and did not understand the explanation of the lack of identifiable causes requiring treatment. Thereafter, he had repeated unscheduled visits and phone consultations with the clinic to present with complaints such as \"I feel some teeth are missing,\" \"I can no longer chew with the left teeth.\" In July, periodontal scaling was initiated. However, his complaints increased and worsened (e.g., \"gingival recession,\" a tingling sensation and numbness,\" and \"the lower teeth are damaged by the upper teeth\"). He began visiting the clinic approximately once or twice a week. During 3 months after August, he lost 20 kgs due to \"hip pain\" and \"difficulty walking.\" From October, he was unable to work and took leave. The Department of Psychiatry, to which he was recommended by his younger sister, suspected he had somatic symptom disorder after excluding psychotic disorders, depression, and bipolar disorder. However, the psychiatric treatment was discontinued because he remained highly dissatisfied with the dental treatment.\nOn November 26, 2019, he visited our clinic (Department of Psychosomatic Dentistry) for the first time. However, the examination did not reveal any findings correlated with his complaints (Figure 1). Mr. A was diagnosed with AO, regarding that his pain was limited around his teeth (however, moving beyond nerve distribution), not provoked by jaw movement and failed to respond to every conventional dental treatment. However, based on the previous treatment process and his attitude, underlying developmental disorders were suspected. Hence, effects of amitriptyline and so on were not anticipated. He was referred to the outpatient department of SK, who is familiar with the treatment of developmental disorders in the Department of Anesthesiology, The University of Tokyo Hospital; at this point, the patient declined the referral.\nHowever, given his continued complaint calls and letters regarding \"incidents at the periodontics clinic\" to the chief of periodontics clinic, our dental hospital director issued a treatment refusal document and send it to the patient in April. In response to our letter, the patient made repeated visits and phone consultations with our department, asking \"What should I do with my teeth?\" Therefore, he was advised to seek treatment at the University of Tokyo Hospital. Despite reluctance, on March 6, he eventually agreed to the referral. He was referred to Dr. SK a psychiatrist at the Department of Anesthesiology and Pain Relief Center, on April 24, 2020 (day 0). The timeline for this patient is shown in Figure 2. During the examination, he was suspicious of the treatment in the primary referral hospital and made unsolicited complaints without listening to the advice of Dr. SK. A structured interview, the Mini-International Neuropsychiatric Interview, was conducted to differentiate comorbid psychiatric disorders. He did not have a major depressive episode with hypochondriac delusions or other melancholy-type features, a manic episode, or psychotic disorder. He displayed gender-atypical gestures and abnormal eye contact and ritualized patterns of verbal or non-verbal behavior (his speech was excessively formal and polite). He was overly particular about Dr. SK's wording and frequently corrected his expressions. He had highly restricted and fixated interests in gingival pain and was hyperreactive to sensory input. Hence, he was diagnosed with ASD according to the diagnostic criteria of the DSM-5. He was highly educated and employed in a highly structured, professional occupation, and did not have severe impairment in social functioning due to ASD prior to the onset of AO.\nBased on hyperactivity and impulsivity symptoms observed (fidgeting with hands and squirms in seat, blurting out answers, interrupts others), the long version of the Conners' Adult ADHD Rating Scale (CAARS-S) and the observer-rated (CAARS-O) questionnaire were administered to examine the suspected comorbidity of ADHD. Mr A's percentiles of the subscale of the CAARS-S were: E. DSM-IV Inattentive Symptoms, 90; F. DSM-IV Hyperactive-Impulsive Symptoms, 98; G. DSM-IV ADHD Symptoms Total, 96; H. ADHD Index, 88. According to ADHD symptoms in the CAARS, Mr. A's ADHD symptoms were at the clinical level of psychiatry (Table 1). In addition, according to the CAARS-O completed by his younger sister, the percentile of the subscale D. Problems with Self Concept was 99, indicating low self-esteem related to ADHD symptoms. His developmental and life history was obtained and evaluated with the CAARS using the Diagnostic Interview for Adult ADHD. The results indicated inattention: poor listening to others since childhood; avoiding tasks requiring sustained mental effort, poor logical thinking; easily distracted by ambient noise; forgetful in daily activities. Accordingly, he was diagnosed with ADHD, predominantly inattentive type in the DSM-5 (day 26).\nDuring each examination, the pain numerical rating scale (NRS), the Hospital Anxiety and Depression Scale (HADS), and Pain Catastrophizing Scale (PCS) were administered. Subjective pain intensity was assessed using the numerical rating scale (NRS). Regarding the changes in NRS scores, the minimum clinically important difference is called MCID, decreases of-2 points (or-33.0%) or more in NRS is considered to be substantial or optimal. The average pain NRS score of Mr. A was high (7 points).\nSymptoms of anxiety and depression were assessed using the Hospital Anxiety and Depression Scale (HADS). Based on previous studies, the MCID of HADS is set at 1.5. Mr. A's HADS results revealed clinical anxiety and depression symptoms (HADS-A, 15 points; HADS-D, 12 points).\nCatastrophic thinking related to pain was evaluated using the Pain Catastrophizing Scale (PCS). It has been reported that strong catastrophizing thoughts leads to increased pain and disability possibility, resulting in chronic pain. The MCID of PCS can be improved by 38-44%. Mr. A's PCS results (PCS score 30 points) indicated clinically catastrophic thinking. Changes in pain NRS, HADS, and PCS during treatment course are shown in Figure 2.\nMr. A exhibited strong anger and suspicion at the periodontist who performed scaling. Dr. SK identified the uncontrollable temper outbursts and aggression as ASD irritability and prescribed risperidone (1 mg/day) (day 39). In addition, atomoxetine was initiated at 10 mg to treat severe anxiety and fear due to hyperarousal of ADHD that may contribute to irritability. At the subsequent examination (day 69), the patient responded to medication and stated that \"pain was reduced.\" Temper outbursts and frequent suspicions and complaints of scaling in the primary referral hospital were reduced and Mr A was more polite and considerate. To prevent discontinuation of medication due to side effects, atomoxetine was carefully increased to 20 mg.\nDuring the examination 2 weeks later (day 83), he was calmer, and his facial expression was less grim, and the amount complaints regarding the symptoms he faced had reduced. Therefore, atomoxetine was increased to 30 mg. During the examination 2 weeks later (day 97) he did not mention anger or suspicion of previous treatments except one mention of oral discomfort. He requested consultation on more practical topics such as the preparation of the document for sickness and injury allowance. Therefore, atomoxetine was increased to 40 mg. During the examination 2 weeks later (day 110), pain and numbness were almost resolved. He stated, \"Lately, I have been very stable mentally.\" Additionally, he wanted to discuss with his boss when he would return to work, so the doctor created a medical certificate permitting him to return to work. Thereafter, atomoxetine was increased by 10 mg at ~2-week intervals, leading to reduced pain and numbness and improved mental health status. He returned to work after the administration of the maximum dose of atomoxetine (120 mg/day) (day 226) with no side effects indicating discontinuation. He stated, \"I am able to set up my work better than before because of the medication I have been taking.\" Re-administration of the CAARS-S at day 324 showed the following percentiles for the subscale of the CAARS-S and improved ADHD symptoms: E. DSM-IV Inattentive Symptoms, 60; F. DSM-IV Hyperactive Impulsive Symptoms, 21; G. DSM-IV ADHD Symptoms Total, 36; and H. ADHD Index, 26 (Table 1). Pain NRS (4 points) improved by 3 points, HADS-A (7 points) improved by 8 points, HADS-D (8 points) improved by 4 points, and PCS (16 points) improved by 14 points (46.7%) from the first visit. Clinically significant improvement was observed exceeding MCID on all scales. Thereafter, he continued to visit the clinic once a month to receive medication. Regardless of the presence of mild pain, he continued his work and achieved social integration. He stated that \"the pain has improved, and I am now able to do my hobby of reading, which I had to interrupt because of the pain.\"",
"gender": "Male"
}
] |
PMC9353025
|
[
{
"age": 76,
"case_id": "PMC3362849_01",
"case_text": "A 76-year-old Caucasian female was referred to our department due to a 6-month history of constant aching pain over her left hip region. Imaging features were very typical of a primary bone tumor and thus, as tentative diagnosis chondrosarcoma was made by the reporting radiologist (Figure 1). Subsequently performed tumor staging revealed the tumor as being a primary with an otherwise clear bone scan, CT chest, and abdomen. There was no evidence of metastatic disease. However, imaging of the kidneys suggested possible renal cell carcinoma involving the right kidney.\nBiopsy specimen of the proximal left femur revealed a biphasic tumor composed of a cartilaginous component with abrupt transition into a noncartilaginous malignant mesenchymal component (Figure 2). The diagnosis of a dedifferentiated chondrosarcoma was made. The dedifferentiated part was consistent with an osteosarcoma.\nThe patient underwent limb salvage surgery, performed according to standardized local protocol by surgeons specialized in oncologic surgery, followed by endoprosthetic replacement. Wide surgical margins were achieved. Although the patient was reasonably fit, adjuvant chemotherapy was not given due to the patient's age.\nDuring the further course of treatment, the suspicious condition in the right kidney, that had already been present during initial tumor staging prior to limb salvage surgery, was diagnosed as clear-cell renal cell carcinoma (Figure 2) and immediately subjected to nephrectomy. There was no evidence of metastatic disease. After more than 5 years of followup the patient is still free of disease.",
"gender": "Female"
},
{
"age": 67,
"case_id": "PMC3362849_02",
"case_text": "Besides the current complaints described above, the patient underwent hysterectomy and cholecystectomy years ago. She could not remember the reason and there is no documentation discussing why those operations were performed. However, her medical family history (Figure 3) revealed that her youngest brother started suffering from invasive medium- to-low differentiated urothelial carcinoma (Figure 4) of the bladder when he was 67-year-old. He died at age 69 of a fibroblastic osteosarcoma (Figure 4) located in his left femur. Their mother presented with renal cell carcinoma as well when she was 65-year-old (specimen not available).\nTo assess the hypothesized diagnosis of LFS, DNA was isolated from blood samples of the female index patient, and we analyzed the tumor suppressor gene p53 using semiquantitative, multiplex ligation-dependent probe amplification (MLPA, MRC-Holland) to rule out alterations of the TP53 gene. Moreover, the entire coding (exons 2-11) region and flanking intron regions of TP53 were sequenced. Since both MLPA and sequenciation did not reveal pathologic changes of the TP53 gene, the GAG-banding pattern derived from cell division was analyzed as well. However, chromosomal aberrations were not detected in the cytogenetic analysis neither for structural or numerical reasons. Taking into account all the results obtained, the diagnosis of LFS could not be confirmed, but there is still uncertainty regarding a definitive diagnosis in terms of a possible new genetic syndrome.",
"gender": "Female"
}
] |
PMC3362849
|
[
{
"age": 70,
"case_id": "PMC6292857_01",
"case_text": "The AED for which most of studies and interactions with DOACs have been reported is phenytoin, which bears relevant clinical interactions with dabigatran, rivaroxaban, and apixaban. In 2017, Chang et al. found that in a large cohort of 91.330 patients suffering from non-valvular AF and treated with dabigatran, rivaroxaban or apixaban, there was a higher risk of major bleeding when the patients were taking phenytoin (N-7158) for concomitant epilepsy, as compared with patients not assuming this drug with an adjusted incidence rate difference (99% CI) per 1,000 person-years of 52.31 (32.18-72.44; p < 0.01). However, this study bears the strong limitations of a Health Insurance database system analysis (including the lack of detailed clinical/radiological information on the single patients). In the same year, Hager et al. described the occurrence of a left atrial thrombus in a 70-years-old patient whit a clinical history of hypertension, persistent AF, heterozygous factor V Leiden, recurrent deep venous thrombosis (DVT), and a pulmonary embolus, in co-treatment with atenolol, betahistine, diltiazem, valsartan, phenytoin 300 mg orally QD, and dabigatran etexilate 150 mg BID.",
"gender": "Unknown"
},
{
"age": 45,
"case_id": "PMC6292857_02",
"case_text": "Phenytoin can affect both the absorption and metabolism of dabigatran, suggesting that could have led to a decreased anticoagulant effect and the development of atrial thrombus. Clinical relevance of this drug interaction has not been well described; anyway, the co-administration should be avoided. In 2016, Wiggins et al. had hypothesized the same type of interaction. They showed undetectable serum levels of dabigatran in a 45-years-old Afro-American male patient with AF treated also with phenytoin indicating that this drug could have a significant influence on dabigatran's metabolism and that this patient was at high risk for stroke.",
"gender": "Male"
},
{
"age": 48,
"case_id": "PMC6292857_03",
"case_text": "Similarly, Becerra et al. observed, in the first case documenting laboratory interaction between rivaroxaban and phenytoin, that DOAC levels were considerably low in a 48-years-old woman with cerebral vein thrombosis receiving also phenytoin, a combined CYP3A4 and P- glycoprotein inducer, which might reduce rivaroxaban levels.",
"gender": "Female"
},
{
"age": 77,
"case_id": "PMC6292857_04",
"case_text": "Phenobarbital may bear relevant interactions, too. In 2014, Chin et al. evaluated median dose- corrected steady-state plasma dabigatran concentration (60 lg/L; range 9-279) in 52 patients (38-94 years). The dose-corrected concentration in a patient with co-administration of phenobarbital and dabigatran etixilate 110 mg BID was found 3 standard deviations below the cohort mean (concentration of 9 lg/L; dabigatran = 0.04l g/L per mg/day, z-score of the log-transformed dabigatran = -3.25). Authors hypothesized that this could occur via P-gp induction. In 2018, King et al. reported the case of a 77-years-old patient on low-dose phenobarbital treatment for essential tremor, who was diagnosed with AF and, after dabigatran (150 mg BID) failure, she was switched to apixaban 5 mg BID.\nIn the following year, she suffered from two distinct episodes of cardioembolic stroke, and apixaban serum levels were lower (89 ng/mL approximately 11 h post-dose) than the expected therapeutic concentration. Furthermore, after phenobarbital discontinuation, the DOAC concentration rose to normal levels (361 ng/mL; unknown time post-dose) confirming a direct effect.",
"gender": "Female"
},
{
"age": 53,
"case_id": "PMC6292857_05",
"case_text": "Carbamazepine may affect the anticoagulant efficacy of dabigatran and rivaroxaban. In 2016, Laureano et al. described 2 patients, a 53-years-old man with epilepsy and AF (CHADS2 score of 2) and a 66-years-old woman with bipolar disorder, previous pulmonary embolism, and right leg deep vein thrombosis, receiving carbamazepine and dabigatran 150 mg BID. In both patients, dabigatran serum concentrations were reduced (steady state 24 ng/mL and 20 ng/mL, respectively), effect probably due to induction of P-gp by carbamazepine. In 2017, Stollberger and Finsterer, described the case of a 55-years-old Caucasian male, suffering from recurrent venous thrombosis in treatment with rivaroxaban (10 mg BID) and carbamazepine (900 mg/die) for structural epilepsy with complex partial seizures and secondary generalization. He was hospitalized because of increasing pain and swelling of his right leg starting spontaneously. Sonography showed a thrombosis of the right popliteal and femoral vein and analysis of drug concentrations showed a serum-carbamazepine level in the therapeutic range while anti-Xa activity was low (< 20 ng/ml). Independently, in 2018, Burden et al. reported the case of a 71-years-old woman with clinical history of pulmonary embolism, subjected to the same therapy as the previous case. Presented to the Emergency department with acute onset shortness of breath, chest pain and palpitations, computed tomographic pulmonary angiography (CTPA) revealed multiple bilateral pulmonary emboli. Carbamazepine was hypothesized to be responsible of the DOAC inefficacy as the anti Xa activity was reduced in both cases.",
"gender": "Female"
},
{
"age": 53,
"case_id": "PMC6292857_06",
"case_text": "Finally, Risselada et al. reported in 2013, only in Dutch language, a case of a 53-years-old man who underwent a partial knee arthroplasty and 4 days before developing a pulmonary embolism, whose symptoms started 1 day after he was switched from prophylactic dalteparin 5000 IE QD to rivaroxaban 10 mg one a day. Being the patient also in therapy with carbamazepine 600 mg BID for epilepsy, the authors of the case report hypothesized that pulmonary embolism was caused by a decrease in serum rivaroxaban levels due to the enzymatic induction of CYP3A4 by carbamazepine.",
"gender": "Male"
},
{
"age": 88,
"case_id": "PMC6292857_07",
"case_text": "Rivaroxaban efficacy may also be affected by valproate and oxcarbazepine. In 2014, Stollberger and Finsterer described the case of an 88-years-old female patient, taking valproate and rivaroxaban 15 mg/die together, and whose anti-Xa activity was higher than expected. Indeed, coagulation tests after 28 h rivaroxaban-intake showed INR 2.26, PT 35%, aPTT 38.3 s and anti-Factor Xa-activity 2.00 U/m.",
"gender": "Female"
},
{
"age": 68,
"case_id": "PMC6292857_08",
"case_text": "Even after the DOAC withdrawal, it took several days before coagulation was normalized, despite the short half-life of rivaroxaban (5-9 h). The authors themselves acknowledged a potential key role of the patient's poor renal function and low body-mass-index (eGFR 34-42 ml/min/1.73 m2 and BMI = 19.95), but they could not exclude a drug interaction between rivaroxaban and valproate. The potential role of oxcarbazepine as a rivaroxaban inhibitor was suggested by Serra et al., which described the case of a 68 years old man, suffering from permanent AF who had been put on rivaroxaban treatment, before undergoing external electrical cardioversion. He eventually did not undergo cardioversion because he developed a left atrial thrombosis despite DOAC treatment. The authors supposed that the thrombotic event was due to the interaction between rivaroxaban and oxcarbazepine, which the patient was taking for epilepsy, and which, as a strong CYP3A4 inducer, could have reduced rivaroxaban efficacy.",
"gender": "Male"
}
] |
PMC6292857
|
[
{
"age": 81,
"case_id": "PMC4719911_01",
"case_text": "An 81-year old presented to our clinic with a chief complaint of \"my bladder is hanging out of my anus.\" His pertinent past medical history began with urinary retention leading to a transurethral resection of prostate for benign prostatic hypertrophy. He subsequently developed anterior urethral stricture disease which required multiple endoscopic procedures, including urethral dilations, direct visualization internal urethrotomy, and transurethral resection of urethral stricture and bladder neck contracture. Eventually, he began to void per rectum and was diagnosed with a large recto-urethral fistula. He was referred to a tertiary center and underwent diverting colostomy and ileal conduit. At the time of diversion, the bladder and rectum were left in situ due to a 'hostile pelvis.' After surgery, he developed rectal prolapse and underwent a Thiersch procedure. Unfortunately, the pelvic organ prolapse worsened and he was advised that no further operative options were available. He and his wife began to manage the prolapse of his bladder and rectum by manual reduction, packing the rectum with Kerlix gauze, and applying dressings and tape to his buttock. He sought out further surgical opinions and presented to our center for management of this extremely complex and rare scenario. After meeting with a team of urologic, plastic, and colorectal surgeons, he elected for repair.\nUsing a transanal approach, the posterior bladder wall was seen adjoined to the anterior rectal wall, consistent with a recto-urethral fistula. The anterior rectal wall was dissected from the posterior bladder wall, preserving all rectal tissue. The posterior bladder was then dissected laterally into the perivesical space. Bladder was mobilized off the peritoneal lining and the posterolateral pedicles were controlled with the LigaSure device. The anterior bladder was then dissected off the pubic symphysis using the transanal approach with slight vertical extension to gain access and exposure of urethra and Foley. Resection of residual prostate with closure of the urethra was performed.\nAfter cystoprostatectomy, completion proctectomy was judged to be impractical due to the presence of parastomal hernias of the anterior abdominal wall. Bilateral gracilis muscle flaps were harvested from medial thighs and transposed into the pelvic defect. Left gracilis muscle was wrapped around the rectum and sutured to ischium in order to restore some muscular support to the sphincter. The right gracilis myocutaneous flap was used to fill dead space within the pelvis, bridging the gap between the anterior rectal margin and anal verge. Postoperatively, he developed venous congestion of the myocutaneous flap which was treated with medical leaches and eventually necessitated a return to the operating room 7 days post-op. After debridement of skin and subcutaneous tissue, the anterior margin of rectum was inset to muscle and anal verge in place of the skin paddle. By 4 weeks after surgery, thigh donor sites healed well and anterior rectum and anal verge were re-epithelialized. No evident prolapse of viscera was seen or palpated with digital rectal exam. Patient (and spouse) quality-of-life are now much improved, more than 6 months after surgery (Fig. 1).",
"gender": "Male"
}
] |
PMC4719911
|
[
{
"age": 48,
"case_id": "PMC8683450_01",
"case_text": "Sister Mary-Joseph nodule (NSMJ) is an umbilical skin metastasis that manifests as a firm, ulcerated and painful mass. Rare in intra-abdominal cancers of digestive or gynecological origin, associated with the poor prognosis, with a survival time average of two months without treatment, and poses a therapeutic problem because it has long been considered an outdated stage of the disease and requires palliative treatment. Here, we report the observation of a 48-year-old man who referred to our training for surgical management of an umbilical budding that changed character by becoming aggressive, he has received a surgical treatment that carries the umbilical mass, the sigmoid, and resection of bladder flange with end-to-end anastomosis of the colon, and suture of the slice of the bladder section, the histological assessment revealed the NSMJ originated from sigmoid adenocarcinoma. Through a review of recent literature, we will discuss the usefulness of aggressive surgery associated with adjuvant chemotherapy to treat this disease, we also specify its epidemiological, diagnostic, and therapeutic aspects.",
"gender": "Male"
},
{
"age": 48,
"case_id": "PMC8683450_02",
"case_text": "A 48-year-old man from Moroccan East presented to the outpatient department with a six-month history of an umbilical mass, generalized body weakness, and abdominal pain. He was operated on (one year and six months ago) appendicular peritonitis with a suppurated appendix in the local hospital of Taourirt. He also was on oral anti-diabetic medication (metformin 1000 mg 1cp3*/day) for two months at the time of presentation.\nClinical findings: on admission, we found on physical examination, an ulcero-budding mass (Figure 1), which appeared ten months after the treatment of peritonitis is which manifested in the beginning as a hard mass of 3 cm without inflammatory signs insight and which changed character after three months becoming fixed to the deep planes and measuring six cm, with inflammatory signs. Examination of the other systems was unremarkable, the patient had no Bowel obstruction, or rectal syndrome, drug history or family history of tumor, or any symptoms suggestive of colic manifestations.\nDiagnostic assessment: laboratory parameters were normal, two computed tomography were performed out at six months intervals, the first at the beginning of the symptomatology objectified the presence of a urachal cyst, while the second revealed the existence of an infiltrating process of the sea urchin. A skin biopsy was performed, returning in favor of the granulation tissue. An abdominal-pelvic computed tomography (Figure 2) was performed, objectifying the presence of: a urachal-cyst that manifested like an oblong structure, extending from the umbilicus to the dome of the urinary bladder measuring 68 * 18 mm. Two incisional-hernias, with mixed intestinal and mesenteric content: the first, median, measuring 61 mm, and the seconds, right lateral with a collar measuring 32 mm.\nTherapeutic intervention: the patient was hospitalized, diagnosis and management were discussed with the patient. He benefited from an exploratory laparotomy under general anesthesia. We found that it infiltrated the sigmoid colon (it was perforated), the umbilical wall, and the bladder. This finding justified the resection of the umbilical mass, segmental resection of the sigmoid, resection of bladder flange with end-to-end anastomosis of the colon, and suture of the slice of the bladder section.\nThe histological assessments (Figure 3, Figure 4, Figure 5) of the resectioned parts retained the diagnosis of NSMJ with: for the bladder: no tumor proliferation, chronic inflammatory reshaping of the bladder mucosa; for segmental colectomy of the sigmoid: a well-differentiated and infiltrating adenocarcinoma of 2 * 2.5 * 4 cm, exceeding the sub-serous with a perforated wall, the limits of peripheral surgical resection are healthy (>4 cm), absence of vascular emboli or peri-nerve infiltration, lymph node curage 13 N-/13 N, tumor classified Pt4N0Mx; for the umbilical resection: skin localization of a well-differentiated adenocarcinoma. The tumor was located 6 mm from the deep resection boundary 4 mm from the nearest lateral resection boundary. Other lateral resection limits are healthy (more than 1 cm from it).\nFollow-up and outcomes: postoperative follow-up was simple. During a staff of a multidisciplinary consultation meeting, the size of the tumor, the negativity of the extension assessments indicate adjuvant chemotherapy based on XELOX (oxaliplatin and capecitabine) for six months. The patient is regularly followed in our training (we opted for clinical, biological, and radiological monitoring by three months after a decline of 18 months, no recurrence detected).\nPatient perspective: during the time he was hospitalized and after the treatment, the patient was delighted with the care she received and was optimistic about the outcome of her condition.\nInformed consent: the patient was informed about the case report, why her case was peculiar and the author's interest in publishing her case. She willingly gave informed consent to allow the authors to use her photos for this case report.\nPatient's consent: informed consent was obtained from the patient for us to use the pictures.",
"gender": "Male"
}
] |
PMC8683450
|
[
{
"age": 64,
"case_id": "PMC6510510_01",
"case_text": "The patient was a 64-year-old, virologically stable HIV-positive male enrolled at the Grady Health System Infectious Disease Program (IDP) at the Ponce de Leon Center, a multidisciplinary HIV clinic in Atlanta, Georgia, USA. The patient was diagnosed with HIV in 2005, 12 years prior to this report. At the time of this study, the patient was on the anti-retroviral (ART) regimen of Prestiza , Norvir and Epivir . The patient's viral load remained undetectable throughout the intervention period, and his CD4 count ranged from 369 cells/mm3 to 313 cells/mm3. Aside from HIV, the patient's medical history was significant for controlled hypertension, controlled Diabetes Mellitus, and a history of fungal sinusitis, which requires him to be on long-term antibiotics. The patient had stable food and housing, and lived alone in an apartment. He reported positive social support from a sibling and 2 close friends, however reported periods of loneliness and depression. He was followed by a mental health counselor at the Ponce Center for intermittent depression and psychological support.\nThe patient was referred to PT for chronic pain secondary to a 15-year history of bilateral lower extremity distal sensory polyneuropathy, as well as 5-year history of chronic lower back pain. The patient had a lumbar spine MRI on the same week as the initial evaluation, which revealed L3/L4 disc bulge without spinal canal narrowing, L3/L4 left neural foraminal narrowing, and multilevel mild degenerative joint disease.\nThe patient signed an informed consent form to voluntarily be the subject of this case report after guided ethical information was provided. The CARE checklist was closely adhered to in the writing of this case report. The patient expressed readiness to decrease opioid use, and understood that the goal of the intervention was to both decrease pain and wean opioids.\nThe patient received all medical care - including PT - at the Ponce Center, which is the largest, most comprehensive ambulatory outpatient HIV/AIDS facilities in the nation with an enrollment nearly 6,000 individuals, all with a history of AIDS. Nearly 90% of enrolled patients pertain to ethnic or racial minority groups, 42% are uninsured, and 64% are below 100% of Federal Poverty Level. The clinic is located an identified HIV cluster in Atlanta, and more than 70% of HIV-positive individuals residing in Atlanta live within two miles of the clinic. Physical therapy has been available on a weekly basis at the IDP since 2014. The physical therapy treatment room has an adjustable treatment table, blood pressure monitor, pulse oximeter, and PT equipment such as varying levels of resistive exercise band, therapeutic tape, and pre-fabricated orthoses.\nThe patient's PT goals were as follows: 1) to be able to perform functional activities such as walking and housecleaning for >30 minutes without needing to rest; 2) to be able to stand long enough to cook himself nutritional meals; 3) to sleep through the night (>= 7 hours) without awakening from pain; 4) To gain independent pain management skills for home.",
"gender": "Male"
}
] |
PMC6510510
|
[
{
"age": 69,
"case_id": "PMC3884727_01",
"case_text": "A 69-year-old woman was hospitalized in India for subarachnoid hemorrhage in January 2013. Her hospitalization was complicated by unsuccessful coil embolization and subsequent hydrocephalus. A ventriculoperitoneal shunt was inserted, and she was transferred to an acute care hospital in Pittsburgh, Pennsylvania, USA, for further management in February 2013. She underwent reinsertion of the shunt and was discharged to a long-term care facility (LTCF 1). She was readmitted to the same hospital because of fever in March 2013.\nA urine culture collected at the time of readmission grew carbapenem-resistant K. pneumoniae and extended-spectrum beta-lactamase-producing E. coli. Although production of KPC-type beta-lactamase was initially suspected in K. pneumoniae, the unusually high level of resistance to amikacin (MIC >32 mug/mL) and gentamicin (MIC >8 mug/mL) increased concern for presence of an NDM-1 producer, which is frequently highly resistant to aminoglycosides because of production of 16S rRNA methyltransferase. A modified Hodge test showed a positive result for carbapenemase production, and a metallo-beta-lactamase Etest (bioMerieux, Marcy l'Etoile, France) showed a positive result for metallo-beta-lactamase production.\nPCR and sequencing identified NDM-1 and OXA-232, a 5-aa variant of OXA-48 recently reported in K. pneumoniae isolates from India. Presence of the gene for 16S rRNA methyltransferase (armA) was also confirmed by PCR and sequencing and accounted for the high-level aminoglycoside resistance. The isolate belonged to sequence type (ST) 14, as determined by multilocus sequence typing, and has been reported to be common among NDM-1-producing K. pneumoniae in Europe.\nThe patient was discharged to LTCF 1 but was readmitted because of recurrent fever. A urine culture collected at this admission grew carbapenem-resistant K. pneumoniae and carbapenem-resistant E. coli. This E. coli isolate belonged to ST95 and was positive for the NDM-1 gene but negative for the OXA-48 group and armA genes. The original extended-spectrum beta-lactamase-producing E. coli isolate belonged to ST3865, which is distinct from ST95. Therefore, it is likely that the patient was already colonized by NDM-1-producing E. coli ST95 at the time of the first admission, but this colonization was not detected in a clinical culture at that time. All K. pneumoniae and E. coli isolates remained susceptible to fosfomycin and colistin.\nThe patient did not receive any antimicrobial drug therapy specific for these isolates because she was deemed to be only colonized with them in the urine. Enhanced contact precautions were also implemented at the time of PCR confirmation of the NDM-1 gene. These precautions included all components of contact precautions (handwashing, gowns, gloves, disinfected/dedicated equipment), and dedicated personnel monitored compliance with these measures around the clock.\nThe patient was eventually discharged to another long-term care facility (LTCF 2) in April 2013. A point surveillance testing for NDM-1-producing Enterobacteriaceae by using rectal swab specimens was conducted for all inpatients at the acute-care hospital and for all residents of the unit at LTCF 2. Testing did not identify any other patients colonized with NDM-1-producing Enterobacteriaceae.\nIn transformation and conjugation experiments, transformants carrying the OXA-232 gene were obtained from K. pneumoniae, but those carrying the NDM-1 gene could not be obtained by either method, suggesting that the 2 genes were not located on the same plasmid. For E. coli, transformants and transconjugants carrying the NDM-1 gene were obtained, which indicated that this gene was located on a self-conjugative plasmid.\nDetection of NDM-1- or OXA-48-group-producing Enterobacteriaceae, in particular K. pneumoniae, poses a diagnostic challenge in regions to which KPC-producing K. pneumoniae is endemic. In our case, recognition of resistance to multiple aminoglycosides by an automated instrument, which was confirmed to be high level by the disk diffusion method (i.e., no inhibition zone), prompted early detection and implementation of appropriate infection prevention measures. Production of 16S rRNA methyltransferase by KPC-producing K. pneumoniae is extremely rare, and no cases have been identified in the United States. Therefore, we propose that high-level resistance to amikacin and gentamicin can serve as a clue for suspecting potential NDM-1-producing isolates in clinical diagnostic laboratories.\nConversely, Enterobacteriaceae producing OXA-48-group carbapenemase, including variants such as OXA-232, do not have characteristic susceptibility patterns and may easily not be recognized in areas with a high background prevalence of KPC-producing organisms. Therefore, organisms producing OXA-48 or their variants might have already spread in the United States.",
"gender": "Female"
}
] |
PMC3884727
|
[
{
"age": 59,
"case_id": "PMC5851018_01",
"case_text": "On May 2016, a 59-year-old Bulgarian male referred from the office of cardiologist to our hospital complaining of worsening shortness of breath, weight gain of 6 pounds, leg swelling, and low blood pressures (BP) down to 80/60 mmHg for a few weeks. Medical history was significant for hypertension, coronary artery disease, diabetes, atrial fibrillation, polycystic kidney disease, and a recent tamponade diagnosed 4 months prior to this hospitalization. Dizziness was his initial complaint in March. A large serosanguinous pericardial effusion was drained at that time with inconclusive fluid analysis including a negative culture and cytology. His medications included amlodipine, lisinopril, and atorvastatin. He used to work as a truck driver. After 45 packs per year smoking history, he quit in 2015. Positive findings on exam were a BP of 85/60 mmHg, mild respiratory distress on room air, increased jugular vein pressure, muffled irregular heart sounds, and pitting edema of the shins. Echocardiography showed normal left ventricular ejection fraction of 59% and a moderate sized posterior pericardial effusion with borderline signs of tamponade. The echo also revealed a fibrinous material and stranding suggestive of adhesions in the collection (Figure 1). Attempt to drain the pericardial effusion with subxiphoid pericardial window was terminated due to fusion of pericardium to the anterior surface of right ventricle. Partial pericardiectomy was then attempted through median sternotomy with frozen section, which revealed a neoplastic process. Hence, a subtotal pericardiectomy was performed. There were adhesions of the pericardium to the right ventricular wall and diaphragmatic surface and nodularity on pericardium. Repeat echocardiogram showed no further effusion. Pericardium and epicardium tissue slides revealed predominantly solid sheets of high-grade epithelioid to spindle cells with focal areas of vasoformation. Tumor cells predominantly epithelioid show prominent atypia with abundant amophilic to eosinophilic cytoplasm, large vesicular nucleoli, and prominent nucleoli with atypical mitotic figures. On immunostaining, tumor cells were positive for CD31, CD34, WT1, vimentin, keratins AE1/AE3, and focal CK7 and negative for CK20, PSA, PSAP, AFP, TTF1, CDX2, BerEp4, calretinin, podoplanin D2, CD45, and S100 (Figures 2-2). These findings led to the diagnosis of epithelioid angiosarcoma of the pericardium. Chest computed tomography scan showed nodular opacifications within both lungs with concern for metastasis. His condition stabilized with Lasix and oxygen. He was then referred to the university hospital for a second opinion regarding his management. Cardiac MRI showed extensive vascular malignant mass in the pericardium encircling and infiltrating the right heart chambers. He received paclitaxel weekly for 6 doses with palliative intents. Later he developed malignant pleural effusions and intracranial metastatic lesions. He was admitted again in our hospital for weakness and encephalopathy. Patient preferred comfort care. Hence, he passed away 9 months after his initial presentation.",
"gender": "Male"
}
] |
PMC5851018
|
[
{
"age": 32,
"case_id": "PMC4314886_01",
"case_text": "A 32-year-old man presented with a linear skin lesion of segmental distribution over his left arm, shoulder and upper back. The epidermal nevus was not of the common hyperkeratotic pigmented type, but resembled a linear organoid nevus by its softer texture and light color. However, the patient refused additional biopsy and further workup to determine histologic subtype of the nevus. The lesion had been present since birth and was asymptomatic until approximately 1 year ago, when a slowly enlarging ulcer appeared on the upper arm. The ulcer was biopsied and histological investigation revealed basal cell carcinoma (BCC) with deep invasion into the dermis [Figure 1]. The patient was offered appropriate therapy by an oncologist, but he sought the second opinion and was referred to the Dermatology Department. On clinical examination, it was noted that besides the large crusted ulcer of confirmed BCC on the arm [Figure 2], there were several other loci of evolving tumors on the patient's back [Figures 3 and 4]. Dermoscopy revealed diagnostic features of a BCC. The patient declared no other problems with his health and was advised to follow treatment recommendation of the consultant oncologist.",
"gender": "Male"
}
] |
PMC4314886
|
[
{
"age": 30,
"case_id": "PMC4376922_01",
"case_text": "We examined a 30-year-old male with a sudden, painless visual loss in his right eye that lasted for 3 h. Nine years ago, he had been treated with scatter laser photocoagulation for an ischemic type of upper branch retinal vein occlusion (BRVO) in the left eye. At that time, he was diagnosed with homocysteinemia with the homozygous C677T mutation in the methylenetetrahydrofolate reductase gene. After a detailed systemic workup, he was put on warfarin sodium. On examination, his best-corrected visual acuity (BCVA) was hand motions in the right eye and 20/30 in the left eye. A slit-lamp examination was unremarkable in each eye. The intraocular pressure was 15 mm Hg in both eyes. Dilated fundoscopy revealed tortuous and dilated retinal veins with 360 scattered retinal hemorrhages as well as a clearly demarcated pale retina in the distribution of the upper temporal artery in the right eye and scattered laser spots with macular retinal pigment epithelium changes in the left eye (fig. 1). Our fundus autofluorescent image clearly depicted the extent of the infarcted area (fig. 2a), and fluorescein angiography demonstrated that the peripheral retina was well perfused in the right eye (fig. 2b). Optic coherence tomography (OCT) showed the presence of subretinal fluid and the ganglion cell layer infarct in the right eye (fig. 2c). The diagnosis was simultaneous CRVO and upper BRAO in the right eye. After a prompt digital ocular massage and a 20% mannitol infusion, an anterior chamber paracentesis was immediately performed. However, no visual improvement was noted following the procedure. Two weeks later, a dexamethasone intravitreal implant (Ozurdex, Allergan Inc., Irvine, Calif., USA) was injected into the right vitreous cavity to at least alleviate the CRVO-related concomitant macular edema, as the patient still had a visual acuity of hand motions in the right eye. Visual acuity gradually improved in the following weeks with a remarkable decrease in the central macular thickness, and no postoperative injection-related complication was observed. Six months after the operation, the retinal anatomy appeared to be dramatically improving (fig. 3a, b), and his BCVA was found to be 20/25. His visual field defect contracted with time in the right eye (fig. 4a, b).",
"gender": "Male"
}
] |
PMC4376922
|
[
{
"age": 39,
"case_id": "PMC9858885_01",
"case_text": "This patient is a 39-year-old African American male with a past medical history of tobacco and cannabinoid use, fentanyl abuse, and asthma who presented to the emergency department with an abrupt onset of shortness of breath and palpitations. The patient's symptoms began the evening prior. The patient was experiencing chest pain on the left side, which is accompanied by neck pain. The chest pain and dyspnea (shortness of breath) appeared to be worse when the patient was walking upstairs. It is not specified whether the pain is radiating or not. His last fentanyl use was one month prior. At the time of admission, he had been in a rehabilitation facility for one month.\nHe denied fever, chills, recent weight loss, change in vision, nausea, vomiting, headache, diarrhea, recent sick contacts, or previous episodes of his presenting symptoms.\nThe physical examination revealed an afebrile patient, with a blood pressure of 131/85 mmHg, tachycardic (110 bpm), and tachypneic (22 breaths/minute), with an oxygen saturation of 100% on room air. Findings included shortness of breath with lung fields clear to auscultation bilaterally and hand tremors on outstretched extremities bilaterally. The remaining physical examination results were unremarkable.\nSignificant initial laboratory results include the following: cross-linked dimeric degradation product (D-dimer), N-terminal pro-B-type natriuretic peptide (NT-proBNP), high sensitive cardiac troponin I, and creatine kinase-myocardial band (CK-MB) (Table 1). An elevated D-dimer prompted chest computed tomography pulmonary angiogram (CTPA) (Figure 1), which revealed no signs of pulmonary embolism, patchy ground glass opacities within the lingula and left lower lobe, mild dependent changes with subsegmental atelectasis within the bilateral lower lobes, and mildly enlarged main pulmonary artery, suggestive of underlying pulmonary artery hypertension, with an upright X-ray showing signs of cardiomegaly (Figure 2). Electrocardiography (ECG) revealed sinus tachycardia and left ventricular hypertrophy (LVH) (Figure 3). A two-dimensional (2D) echocardiogram showed an ejection fraction (EF) of 36%, with diffuse mild dilation of the atria and ventricles and trace mitral and tricuspid regurgitation (Video 1).\nOn the second day of admission, the patient was placed in droplet isolation according to hospital policy due to COVID-19. It is important to note that the initial rapid at-home SARS-CoV-2 test was positive, but on hospital reassessment using PCR testing, the patient was found to be negative. Together with the lack of overt symptoms on physical examination, we suspect that this was likely a false-positive result. While SARS-CoV-2 has been associated with dilated cardiomyopathy in rare cases, we did not believe that there was sufficient evidence in this patient to include it as a likely differential diagnosis. His free T4 was 6.58 ug/dL and total T3 was 459.37 ng/dL, with a suppressed thyroid-stimulating hormone (TSH), indicating a hyperthyroid state. A thyroid ultrasound indicated an enlarged and relative hypervascular thyroid. However, due to the prior CTPA use of iodine, the radioactive iodine uptake study could not be completed. Nuclear medicine myocardial perfusion single-photon emission computed tomography (SPECT) at rest and stress indicated no evidence of a fixed defect or stress-induced ischemia (Figure 4).\nThe third day of admission resulted in serology studies, with thyroid-stimulating immunoglobulin of 127 IU/L, thyroglobulin antibody < 1.0 IU/mL, thyroid peroxidase antibody of 281 IU/mLco, and thyroid-stimulating hormone receptor antibody of 39.60 IU/L, indicating Grave's disease. The treatments provided were as follows: methimazole dosing titrated to 20 mg tablet, orally, twice daily; metoprolol 50 mg tablet, orally, daily; and Entresto 1 tablet (49/51 mg), orally, twice daily. A summary of the patient's notable laboratory values throughout the hospital stay is provided in Table 1.\nThe patient significantly improved. Six weeks later, he was clinically and biochemically euthyroid. His heart failure medication was discontinued, A repeat echocardiogram showed normal left ventricular (LV) and right ventricular (RV) systolic function with an ejection fraction of 56%.",
"gender": "Male"
}
] |
PMC9858885
|
[
{
"age": 35,
"case_id": "PMC7666633_01",
"case_text": "A 35-year-old white female presented to the emergency room for severe midsternal chest pain and left shoulder pain that started the previous day. She had a recent vaginal delivery at home approximately ten weeks before this presentation and had ongoing intravenous drug use. Since the birth at home, she had lower abdominal pain but failed to seek medical attention. She also reported two to four weeks of generalized malaise, fever, and chills. She was febrile at the emergency room, with tachycardia of 105 beats per minute, normal blood pressure, and oxygen saturation >90% on room air. Based on her clinical history and physical examination findings such as tachycardia and severe lower abdominal tenderness, acute pulmonary embolism was a concern. She underwent a computed tomography (CT) scan of the chest, abdomen, and pelvis for further evaluation. Imaging revealed multiple small pulmonary emboli and findings concerning septic arthritis of the pubic symphysis and edema of the left clavicle. Based on her clinical presentation and risk factors, IE was suspected. Therefore, she was transferred to our hospital for further management.\nOn arrival at our facility, the patient had a fever of 38.8ocelsius, tachycardia of 125 beats per minute, blood pressure of129/79 mmHg, and oxygen saturation of 93% on room air. Labs revealed leukocytosis of 19,000/mL with neutrophil predominance and normal renal and hepatic functions. Labs were significant for hypoalbuminemia and elevated inflammatory markers, including ESR (Erythrocyte sedimentation rate) of 100 mm/Hr and CRP (C-reactive protein) of 27 mg/dL. Her urine drug screen was positive for amphetamines and opiates, and she admitted to the daily use of heroin and methamphetamine. On physical examination, she was alert and oriented but appeared to be in painful distress, expressing significant abdominal and left shoulder pain. Lungs were clear on auscultation, whereas on the cardiac exam, a diastolic murmur in the pulmonary area was heard. She had severe suprapubic area tenderness on palpation. The left shoulder limited range of motion with no spine tenderness was appreciated on musculoskeletal examination. Left antecubital and buttock areas showed the presence of multiple needle marks with no signs of infection. A portable chest X-ray disclosed diffuse lung opacities suspicious of septic emboli (Figure 1). Empirically intravenous (IV) vancomycin and ceftriaxone were initiated for suspected IE treatment. The transthoracic echocardiogram (TTE) demonstrated an extensive mobile 3.7 x 0.5 cm vegetation on the pulmonary valve with moderate to severe pulmonic regurgitation (Figure 2). The patient refused a transesophageal echocardiogram (TEE) despite multiple requests. The cardiothoracic surgery team review of the TTE was negative for any left-sided IE stigmata.\nMagnetic resonance imaging (MRI) of the left shoulder revealed acromioclavicular joint septic arthritis and abnormal marrow edema in the distal clavicle concerning for osteomyelitis (Figure 3). A subcentimeter abscess in the region of subacromial bursa was also seen (Figure 3). Pelvis MRI showed peripherally enhancing fluid collection from pubic symphysis compatible with septic arthritis and erosion in the left pubic body without confluent marrow replacement to indicate osteomyelitis and bilateral hip joint effusions (Figure 4). Blood cultures returned positive for MRSA within 12 hours, and they remained positive from the first day of hospitalization until day 7. The mean inhibitory concentration of vancomycin for MRSA was 1. The positive blood cultures resulted in the de-escalation of antibiotics to vancomycin alone.\nThe patient underwent irrigation and debridement of the pelvic abscess and left shoulder joint. The cultures from the fluid aspiration of the left acromioclavicular joint and pubic symphysis grew MRSA confirming septic arthritis. On the 13th day of hospitalization, she underwent bioprosthetic pulmonic valve replacement and pulmonary artery reconstruction with autologous pericardial patch placement. Intraoperative echocardiogram did not reveal any left-sided IE stigmata. The special stain for fungal organisms was negative. Cultures from the valve were not sent due to positive blood and tissue cultures from the joint aspirations. Histopathology of the pulmonic valve vegetation revealed a partially necrotic cardiac valve with septic vegetations, numerous Gram-positive cocci in clusters, and pairs. After one week following cardiac valve surgery, she had dental extraction of the remaining upper teeth to optimize dental hygiene. After valve replacement, she was started on warfarin with an international normalized ratio goal of 2-3.\nDue to the history of active ongoing intravenous drug abuse, outpatient parenteral antibiotics were deferred. Instead, the patient received intravenous antibiotics, inpatient, until completion of her antibiotic course. She completed the IE treatment with six weeks of vancomycin. Inpatient pharmacy managed the vancomycin dosing based on the trough levels. Vancomycin dosing was three times a day, and the average dose ranged from 750 mg to 1250 mg over six weeks. Her mean vancomycin trough levels ranged from 15 mcg/mL to 18 mcg/mL. Upon completing antibiotic therapy, the ESR had decreased to 32 mm/Hr and CRP decreased to 1.32 mg/dL. Before being discharged home, she underwent an evaluation by psychiatry for suboxone treatment. She was discharged home in a stable condition. Unfortunately, she was lost to the outpatient clinic follow-up and repeat imaging to ensure that the infection resolution could not be obtained.",
"gender": "Female"
}
] |
PMC7666633
|
[
{
"age": 27,
"case_id": "PMC6864125_01",
"case_text": "A 27-year-old female with no significant past medical history and no previous surgeries presented to the emergency department with one day of abdominal pain. The pain was initially located in the periumbilical region but migrated to the right lower quadrant with associated nausea and vomiting. On examination, she was afebrile with focal tenderness in the right lower quadrant and voluntary guarding. Labs were notable for a white blood cell count of 18.8. CT of the abdomen and pelvis performed showed acute, simple appendicitis. The patient received intravenous piperacillin-tazobactam. She was then taken to the operating room for a laparoscopic appendectomy. Three trocars were used. The appendix was inflamed primarily at its base but there was no evidence of perforation. The mesoappendix was divided using a LigaSure device (Covidien, Mansfield, MA). The base of the appendix was divided using an endo-GIA purple 45 mm load (Covidien, Mansfield, MA). There were no free or malformed staples seen after the stapler was fired. The patient had an uneventful postoperative course and was discharged the following day.\nEight days later, the patient presented to the emergency department with six hours of severe epigastric abdominal pain. The pain was worse than when she had appendicitis and had spread more diffusely since onset. She was mildly tachycardic but otherwise hemodynamically normal. However, she was peritoneal on exam. Labs were unremarkable. CT of the abdomen and pelvis showed a large amount of free air, some air tracking along the staple line, and small bowel mesenteric edema. She was taken to the operating room for an exploratory laparotomy. Upon entry, there was murky fluid and a clearly necrotic small bowel segment. Closer examination revealed a single loose malformed staple that had hooked onto the small bowel mesentery, causing a volvulus (Fig. 1, Fig. 2). The staple was removed and the bowel was detorsed 360 degrees counterclockwise, but was not viable and was resected using purple GIA cartridges. The bowel was run in its entirety -there was no evidence of small bowel perforation and the appendectomy staple line was intact. A stapled side to side anastomosis was created using a purple GIA cartridge with a blue transverse anastomosis (TA) stapler load to close the common channel. The mesenteric defect was closed using 3-0 vicryl sutures. A nasogastric tube was left postoperatively and removed on the second postoperative day. The postoperative course was uneventful and the patient was discharged on postoperative day four after gradual diet advancement. The patient has subsequently been seen in clinic on postoperative day 11 and has been doing well. This complication was reported to the surgical device company.",
"gender": "Female"
}
] |
PMC6864125
|
[
{
"age": 1,
"case_id": "PMC6396587_01",
"case_text": "A 1-year-old female child born to nonconsanguineous parents was admitted with delayed milestones and one episode of seizures. There was no history of birth asphyxia. Pregnancy and delivery were uneventful. The head circumference was normal. There was delay in speech and language development. Abdominal ultrasound was normal. Magnetic resonance imaging (MRI) brain was advised and sent to MRI department for the same. Axial T2-weighted images at the level of mid-brain shows median cleft, which is seen separating the cerebellar hemispheres and communicating with fourth ventricle, producing the typical bat wing (open umbrella) (solid arrow) appearance [Figure 1a].\nMRI revealed enlargement of posterior fossa with absence of cerebellar vermis [Figure 1c] and elongated bilateral superior cerebellar peduncle giving molar tooth appearance [Figure 1b]. There was mild colpocephaly seen. Joubert syndrome was hence diagnosed.",
"gender": "Female"
}
] |
PMC6396587
|
[
{
"age": 66,
"case_id": "PMC9287348_01",
"case_text": "We present a 66-year-old patient with a medical past history relevant for hypertension, type 2 diabetes mellitus, dyslipidemia, sleep apnea, and obesity. He was diagnosed with Parkinson's disease at age 51, being the initial symptom tremor involving his left upper extremity. Initially, he was treated with levodopa and dopaminergic agonists (pramipexole) with a good clinical response. After five years, he developed motor fluctuations, and generalized dyskinesias. Other complications of therapy included binge eating and hallucinations related to the use of dopamine agonists. Mild cognitive impairment was also observed. At this moment, he received adaily equivalent levodopa dose of 1600 mg. Besides, he also suffered mental depression and anxiety requiring specific treatment with duloxetine and clonazepam.\nThe progressive clinical worsening due to motor complications and side effects of medications, led us to consider the use of intestinal levodopa intraduodenal infusion.\nThe patient scored III at the Hoen&Yahr scale in the \"on\" period and IV in the \"off\" period. He had mild cognitive impairment scoring on Montreal Cognitive Assessment (MoCA) 23/30 at hospital admission. Initial UPDRS III scored 55. Blood tests before the procedure did not disclose any significant abnormalities.\nThe nasojejunal test improved postural stability, motor fluctuations, and gait. PEG placement was performed two days after. It took one attempt without success to perform the procedure because of great solid content in the stomach, requiring fasting for more than 24 h, and the use of laxatives. The next day, the operation for PEG catheter placement took place without complications; he received antibiotic prophylaxis with meropenem and linezolid, an anesthetic plan with desflurane, fentanyl, and rocuronium, and postoperative pain management with methadone.\nOn the first postoperative day, the patient developed mild abdominal pain surrounding the PEG incision area. Initially, he presented diminished hydro-air noises with no inflammatory or peritoneal irritation signs. An abdominal X-ray showed a fecal mass; he received intestinal enemas with an improvement in symptoms. Three days later, the patient developed an acute right-sided abdominal pain that required analgesia with methadone and tramadol. Blood examinations showed severe inflammatory response and elevation of liver enzymes. An abdominal CT was indicated. It showed acute cholecystitis signs with inflammatory changes in adjacent fat and the transverse colon. Thus, an urgent cholecystectomy was performed; areas of gallbladder necrosis were observed in the absence of gallstones.\nThe patient restarted levodopa infusion the next morning. Ten days after admission, cholecystitis symptoms resolved, motor fluctuations improved; dyskinesias and psychiatric symptoms disappeared; l gait and stability improved leading to a partially recovered independence for daily living activities.",
"gender": "Male"
}
] |
PMC9287348
|
[
{
"age": 36,
"case_id": "PMC4525444_01",
"case_text": "A Hindu male aged 36 years, an auto driver by profession was addicted to alcohol since last 20 years was admitted in the hospital (Indoor of Psychiatry, Mental Health Institute, SCB Medical College, Cuttack, Odisha, India) with complaints of confusion in daily routine activities, irritability, aphasia, ataxia, urinating in the bed most of the time at night, unsteady gait, memory impairment (immediate and recent), forgetfulness, and difficulty in the initiation of sleep and loss of appetite. On examination, there is dysfunction in the Lever function test ( AST, ALT, GGT, Alkaline phosphatase with fatty changes in the liver). After improvement in the physical conditions, thiamine injection was administered in the doses of 200 mg/day around 1 month. After that, in order to assess the neurocognitive functioning of the patient, PGI-BBD was tried. However, due to the presence of aphasia, visuo-motor incoordination, unsteady gait, the patient did not cooperate for the test.\nHe was treated for 1 year with donepezil, thiamine, and benzodiazepines with follow-up in every month at the OPD. Neuropsychological evaluation was done after 1 year by the administration of PGI-BBD.\nThe findings of PGI-BBD are as follows: Impairment in recent and remote memory, immediate recall, delayed recall, attention and concentration, visual retention, recognition, retention for similar and dissimilar pairs. Impairment in memory scale indicates the involvement of temporal lobe, impaired performance IQ revealed the involvement of frontal lobe, which suggests the patient has difficulty in abstract reasoning and practical ability. Dysfunction in NBT suggested difficulty in visual acuity and depth perception. Visuo-motor in coordination and organicity were confirmed from Bender Gestalt Test. VAIS was not administered because of persistent motor aphasia of the patient, while there was no indication of sensory aphasia. Even after the adequate treatment of the patient, the improvement in the neurocognitive function was very slow. Computed tomoth graph y (CT) scan findings revealed lesion in the frontotemporal region.",
"gender": "Male"
},
{
"age": 40,
"case_id": "PMC4525444_02",
"case_text": "A Hindu male, aged 40 years, an industrial worker in a steel plant, belongs to a tribal community of the state, where alcohol (Handia) was regularly consumed by almost all adult males and females in the evening time after returning from the work as their sociocultural customs. The person after returning from the work started consuming alcohol from his adolescent age, at the age of 16, before admitted to a tertiary care hospital (Mental Health Institute, SCB Medical College, Cuttack, Odisha, India). He had complaints of confusion in daily routine activities in social and occupational sphere (the confusion is such an extent that at times he was unable to reach at home in the evening after returning from the plant work). He had ataxic gait, diminished vision, forgetfulness, confabulation, neuropathic pain all over the body, agitated, episodic seizure once. For all the above symptoms, he was admitted in the hospital. On investigation, there was liver dysfunction ( ALT, GGT, Serum alkaline phosphatase, and fatty changes in the liver), neuropathic pain in all four limbs. The neuropsychological assessment was tried after the improvement of his physical conditions (around 1 month). However, the patient did not cooperate at that time. After 2 months of discharge, neuropsychological assessment was done. PGI-BBD findings revealed impairment in memory, verbal and performance intelligence quotient, disturbances in visual acuity and depth perception, as well as disturbances in visuo-motor coordination, which indicates there may be the involvement of all the four lobes of the brain. On ophthalmological investigation, there was dysfunction of refractive error. However, there was no optic atrophy or cranial nerve palsy as examined by the ophthalmologist. CT scan findings are suggestive of cortical atrophy.",
"gender": "Female"
},
{
"age": 55,
"case_id": "PMC4525444_03",
"case_text": "A Hindu male, aged 55 years, educated up to third standard belonging to lower socioeconomic status, who was working as a mechanic in a motor garage. He was addicted to alcohol from his adolescence age of 13 years. He was abdicated to beer (Local name-Aska 40), Whisky-40% of alcohol, and Rum-45% of alcohol and was taking very often with his friends. In the initial years of addiction, the frequency of consuming alcohol was 3-4 times/week. However, after 5 years his frequency had been increased to almost every day. He was admitted in the hospital with complaints of grandiose ideas, aggressive behavior, paranoid ideas, confusion, and ataxia. On examination, he had liver dysfunction ( ALT, AST, ALK. Phos. and GGT). On CT scan, a hypodense lesion was seen in the left temporal lobe which was a small infarct and diffuse hypodensity in bilateral periventricular area suggesting ischemic changes was found, whereas lateral and third ventricle was normal. After improvement of his physical conditions, he was discharged from the hospital and reported after 2 months. After 2 months, there were complaints of forgetfulness in his daily routine and occupational activities, persistent paranoid ideas, and minor mistakes in his occupational work. There was no ataxia, but diminished vision was there which is because of refractive error, but not due to optic nerve atrophy (as examined by the ophthalmologist).\nTo assess the neurocognitive status, PGI-BBD was administered. The findings were as follows:\nThere were dysfunctions in the immediate, recent, remote memory, and recognition, whereas minimal impairment in attention and concentration, retention for dissimilar pairs, and visual retention. In verbal intelligence scale, there were minimal impairment in information, digit span, and arithmetic. Slight deviation in dysfunction rating score on NBT suggested the disturbances in visual acuity and depth perception. Organicity and disturbances in visuo-motor coordination were confirmed by Bender Gestalt test.",
"gender": "Male"
},
{
"age": 48,
"case_id": "PMC4525444_04",
"case_text": "A Hindu male, aged 48 years, educated up to graduation, worked as a store keeper in Indian Army, was addicted to alcohol from his age 33. He was taking around 180-200 ml alcohol (Rum: Containing 45% of alcohol). Being the store keeper in the army, he had easily accessible to alcohol and was consumed very often almost every day at evening time. He was admitted in the drug de addiction center with complaints of global confusion, gait disturbance (ataxia), forgetfulness in daily activities, doing minor mistakes in daily routine activities, highly irritable, and restless. On examination, there was liver dysfunction ( ALT, AST, ALK. Phos. and GGT and there was a fatty change in the liver). There was no abnormality detected on CT scan.\nAfter treatment in the drug de addiction center, he was discharged. After 2 months to assess the Neurocognitive functions, PGI-BBD was administered and results are as follows:\nThere were great deviations in delayed recall, attention and concentration retention for dissimilar pairs, whereas little deviations in remote memory, mental balance, immediate recall, visual retention, and recognition. However, there was no impairment in recent memory. His intelligence was found to be decreased from the previous level. The results in NBT also revealed the disturbances in visual acuity and depth perception. No abnormality was detected in CT scan findings.",
"gender": "Male"
}
] |
PMC4525444
|
[
{
"age": 10,
"case_id": "PMC6041995_01",
"case_text": "A 10-year-old Caucasian girl with history of vesicoureteral reflux grade 3 bilaterally, was transferred from an outside hospital with abdominal pain. The patient was complaining of right upper quadrant (RUQ) abdominal pain 5 days prior to admission with worsening into the evening. The pain continued despite Tylenol and Motrin. It was described as achy, 7/10 in intensity, and was in the RUQ without radiation. There were no aggravating factors, and the pain had no association with food intake. She felt better when she was resting. She had an episode of diarrhea on the same day of pain onset and one episode of nonbilious/non-bloody vomiting 2 days prior to admission. Associated symptoms included a fever with a temperature of 100.4 F from 4 days prior to admission; she was responsive to treatment with Tylenol and Motrin. She developed a rash on the same day of fever onset. The rash first appeared on her neck and later spread to her face, upper, and lower extremities. The rash was not itchy or painful.\nHer mother took her to urgent care 4 days prior to admission. She was sent home with reassurance and with a diagnosis of viral illness. She had poor appetite and decreased oral intake for 5 days before the admission. Her mother was concerned that she was still having abdominal pain, poor appetite, and rash. She took the patient to her pediatrician; who performed a rapid streptococcal antigen test (negative), and streptococcal throat culture was sent and was subsequently negative. She was provisionally diagnosed with scarlet fever and was started on amoxicillin therapy. Of note, there were no known sick contacts at home or school. She completed 2 days of amoxicillin, did not show any improvement, and so her mother took her to an outside hospital.\nVitals at the outside hospital were temperature 37.4 C, heart rate 149/minute, blood pressure 106/57 mm Hg, respiratory rate 22/minute, and SpO2 96% on room air. Complete blood count showed white blood cells 12.2 k/mm3 (with 70% neutrophils, 14% lymphocytes, and 9% monocytes), hemoglobin 13.3 g/dL, hematocrit 38.9%, platelets 439,000/mm3, serum sodium 138 mmol/L, potassium 3.5 mmol/L, chloride 102 mmol/L, carbon dioxide 27 mmol/L, blood urea nitrogen 6 mg/dL, creatinine 0.45 mg/dL, serum glucose 106 mg/dL, calcium 10 mg/dL, total protein 7.2 g/dL, and albumin 3.7 g/dL. Alkaline phosphatase was high at 402 U/L, aspartate aminotransferase (AST) 37 U/L, alanine aminotransferase (ALT) was high at 111 U/L, Total bilirubin was high with total 2.2 mg/dL, and direct bilirubin was not available. Lipase was mildly elevated at 284 U/L. Urinalysis with microscopy showed specific gravity 1.014, bilirubin 1+, ketones +, urobilinogen 1, glucose -, nitrite -, LE trace, red blood cells 3 to 10/high-power field (HPF), white blood cells 3 to 10/HPF, and epithelial cells 6 to 30/HPF.\nAbdominal ultrasound showed a prominent gallbladder that was distended measuring up to 4.6 cm in short axis. No gallstones, gallbladder wall thickening, or pericholecystic fluid were noted. She received intravenous (IV) famotidine 10 mg, normal saline bolus at 20 cc/kg once, IV Zofran 4 mg, and was transferred to our tertiary care emergency department for further management.\nIn our emergency department, vitals were temperature 36.9 C, heart rate 96/minute, respiratory rate 22/minute, blood pressure 101/68 mm Hg. Abdominal X-ray showed moderate retained stool on the right and left colon with a nonobstructive bowel gas pattern. C-reactive protein was mildly elevated at 16.39 mg/L, erythrocyte sedimentation rate was mildly high at 36 mm/h, and direct bilirubin was 1.3 mg/dL.\nAbdominal ultrasound (Figure 1) was repeated, which showed distention of the gallbladder measuring 4.3 cm in maximum transverse dimension that was stable when compared with the earlier study. Gallbladder wall hyperemia was noted on Doppler, and gallbladder wall thickness was at the upper limits of normal measuring 3 mm without evidence of biliary stone. There was mild pericholecystic fluid. A small amount of free fluid in the right lower quadrant was noted. The appendix was not visualized.\nShe was started on maintenance IV fluids and was sent to 23 hours observation unit.\nIn the observation unit, the patient was hemodynamically stable and remained afebrile. She was noted to have an erythematous macular rash all over the body (Figure 2). She had conjunctival injection in both eyes with clear discharge. Symmetric tonsillar enlargement with mild erythema (2+) was noted. There were no tonsillar exudates. She had tenderness over the RUQ with a positive Murphy's sign on admission. There were no organomegaly or palpable masses. The rest of the examination was normal. She was kept NPO (nil per os) initially, started on IV ceftriaxone, and was continued on IV fluids\nLaboratory tests were repeated on the day of discharge and showed the following: lipase 310 U/L, bilirubin 0.9 mg/dL, AST 44 U/L, ALT 89 U/L, C-reactive protein 9 mg/L, and erythrocyte sedimentation rate 27 mm/h.\nInfectious Diseases consultation recommended evaluating for possible infectious causes of acalculous cholecystitis. Cytomegalovirus immunoglobulin Ig G and IgM (negative), anti-streptolysin O titer (negative), hepatitis panel (negative), infectious mononucleosis screen (negative), EBV serology panel (negative). Parvovirus B19 IgM was negative. Respiratory virus polymerase chain reaction panel was negative. Liver enzymes were retested, with the results AST 53 U/L and ALT 98 U/L. Diet was advanced slowly and the patient tolerated well without vomiting, diarrhea, or return of abdominal pain. Infectious Diseases consultation also recommended Mycoplasma IgG and IgM antibody testing. Mycoplasma pneumoniae IgM was positive. M pneumoniae IgG was negative. The patient was discharged home with oral azithromycin therapy. She followed-up in gastroenterology clinic a few weeks after discharge, where she was completely asymptomatic. ALT, AST, bilirubin, and lipase were repeated and were within normal limits. Her repeat ultrasound was normal with no signs of cholecystitis.",
"gender": "Female"
}
] |
PMC6041995
|
[
{
"age": 16,
"case_id": "PMC3350101_01",
"case_text": "A 16-year-old Moroccan male presented with a four-month history of LUTS and micturition pain. The digital rectal examination revealed a large, soft, fluctuant mass arising from the prostate. TRUS revealed a cystic mass measuring 5 x 4 x 3.5 cm arising from the prostate and no left kidney was seen. On MRI, a tube-like structure meandering along the rear wall of the bladder was recognized as the lower portion of the left ureter. The mass showed low T1- and high T2-weighted signal intensity compatible with a cyst in the left seminal vesicle area (Figures 1 and 2). Enhanced CT revealed left renal agenesis and a retroperitoneal cystic lesion. The urine culture showed that E. coli was sensitive to all antibiotics tested and Q max at uroflow was greater than 15 mL/second. As surgery is very demanding and features many complications, we decided to manage this disease conservatively with alpha-blockers and antibiotics. After 6-month followup, the patient did not report any complain and the uroflow test was similar to a normal urination.",
"gender": "Male"
}
] |
PMC3350101
|
[
{
"age": 23,
"case_id": "PMC10242137_01",
"case_text": "A premature male was born at 28 weeks and five days gestation with a birth weight of 1,200 grams due to preterm labor. This was a dichorionic-diamniotic twin pregnancy. The co-twin was selectively terminated at an outside hospital at 21 weeks' gestation for multiple congenital anomalies secondary to amniotic band syndrome. The mother, a 23-year-old Hispanic with no reported history of serious disease tested positive for SARS-CoV-2 by polymerase chain reaction (PCR) tests 13 days before delivery and upon admission to the hospital. The mother was asymptomatic at presentation and reported no previous symptoms of COVID-19. She received antenatal steroids 29 days prior to delivery after she presented to the hospital with suspected rupture of membranes. Placental pathology of the co-twin showed acute chorioamnionitis with areas of fibrin deposition characteristic of intra-amniotic infection of an unidentified source.\nAPGAR scores were 6 at 1 min and 9 at 5 min of life and initial resuscitation included positive pressure ventilation for one minute, followed by continuous positive airway pressure (CPAP) of 5cmH2O. The infant was admitted to the neonatal intensive care unit (NICU) on CPAP and FiO2 0.21. Chest x-ray showed mild diffuse hazy granular opacities consistent with respiratory distress syndrome (Figure 1A). A nasopharyngeal SARS-CoV-2 PCR at 24 h postnatal age was positive and remained positive until day of life (DOL) 26. Inflammatory markers showed elevation of C-reactive protein (CRP) to 3 mg/dl (normal is <1 mg/dl) and interleukin-6 (IL-6) to 36.2 pg/ml (10x normal), which normalized by DOL 7. Serum antibodies (IgG, IgM) for SARS CoV-2 were undetectable on DOL 4, but present on DOL 19.\nOn DOL 5, increasing oxygen requirement (FiO2 0.5) prompted treatment with dexamethasone (0.1 mg/kg every 12 h for 3 days, 0.05 mg/kg every 12 h for 2 days) and remdesivir (5 mg/kg loading dose, followed by 2.5 mg/kg/dose daily for 4 days). Chest x-ray at this point showed diffuse bilateral hazy opacities with increased perihilar markings (Figure 1B). Echocardiography was normal. By DOL 10, progressive respiratory failure required intubation, mechanical ventilation and FiO2 1.00. Chest x-ray now showed bilateral interstitial infiltrates (Figure 1C). Due to deteriorating respiratory status, the dexamethasone dose was increased to 0.1 mg/kg every 6 h for 2 days with subsequent tapering. Anakinra (a synthetic IL-1 receptor antagonist) was started on DOL 11 at 1 mg/kg/dose every 12 h. FiO2 requirements improved to 0.6, whereupon dexamethasone and anakinra were discontinued by DOL 30.\nOn DOL 25, antibiotics were started for ventilator-associated pneumonia, presumedly due to respiratory cultures positive for Klebsiella pneumoniae and methicillin-resistant Staphylococcus aureus. On DOL 40, another course of dexamethasone was started at a dose of 0.15 mg/kg/day for 10 days, with some improvement in oxygen requirement, which worsened with dexamethasone taper. His FiO2 requirements increased further to 0.80-1.00, and a tracheostomy was performed on DOL 104. The infant continued to have severe respiratory failure requiring mechanical ventilation and high oxygen requirements despite multiple courses of empiric antibiotic treatment for presumed pneumonia. Echoencephalography was normal on DOL 5, 7, 14, 40, and 124. At 5 months of age, the infant's respiratory status progressively deteriorated and ventilatory support was withdrawn because of the extremely poor prognosis, and the infant soon expired.\nLung pathology showed severe bronchopneumonia. To investigate the plausible role of hyperinflammation in the etiology of the severe progressive respiratory failure and potential systemic effects in this infant, we performed additional stains in the lung and heart for proteins potentially involved in macrophage and platelet activation and neutrophil extracellular trap formation indicative of SARS CoV-2 hyperinflammation. We found, specifically, increased low-density lipoprotein receptor (LDLR) and phospo-NF-kB-p65 expression in lung macrophages and cardiomyocytes, increased osteopontin (OPN) and intracellular adhesion molecule 1 (ICAM-1) in blood vessels in the lung and heart (Figure 2), and increased citrullinated histone H3 (citH3) in the lung and blood vessels in the heart (Figure 2), indicating hyperinflammation with formation of NETs.",
"gender": "Male"
}
] |
PMC10242137
|
[
{
"age": 0,
"case_id": "PMC8822334_01",
"case_text": "A 4-month-old male entire indoor-only domestic shorthair cat was referred to the Royal (Dick) School of Veterinary Studies' Neurology Service for acute onset of right thoracic monoparesis following a fall from a chair. Clinical signs progressed rapidly and within 18 h the cat was unable to walk, with right hemiplegia, left hemiparesis and right Horner's syndrome. At this stage the patient was referred. On presentation the cat was quiet, alert and responsive; vitals were within normal limits; and a large, firm bladder was evident on abdominal palpation. Neurological examination revealed anisocoria with a miotic right pupil, cervical hyperaesthesia, right hemiplegia, left hemiparesis, thoracic limb hypotonia, pelvic limb hypertonia, right thoracic limb areflexia, absent deep pain in the right thoracic limb below the elbow and pelvic limb hyperreflexia. Neurolocalisation was to the C6-T2 spinal segments, with lateralisation to the right. Differential diagnoses were trauma, vascular event and infectious/inflammatory disease (feline infectious peritonitis/toxoplasmosis).\nAn emergency CT scan (64-row multi-slice CT scanner; Somatom Definition AS) of the head and spine was performed shortly after admission; no structural abnormalities were identified to explain the clinical signs. Serum biochemistry and haematology identified no significant findings. An echocardiogram revealed trivial tricuspid regurgitation, no left atrial enlargement, no thrombus formation and good contractility. Activated partial thromboplastin time (APTT) and prothrombin time (PT) were within their respective reference intervals (RIs), and serum fibrinogen concentration was not increased: APTT 13.4 s (RI 10-20 s); PT 10.2 s (RI 5-12 s); and fibrinogen 3.2 g/l (RI 2-4 g/l). Testing for serum feline leukaemia virus antigen and feline immunodeficiency virus antibody was negative (SNAP FIV/FeLV Combo Test; IDEXX). Serum IgG and IgM antibody titre testing for Toxoplasma gondii was negative (<50 [Biobest Laboratories, Edinburgh]). Serum analysis for feline coronavirus antibody titre by immunofluorescence assay (<10) and alpha1-acid glycoprotein by radial immunodiffusion assay (0.5 g/l; RI 0.124-0.878 g/l) were both negative (Biobest Laboratories). Analysis of the cerebrospinal fluid (CSF) showed a total cell count of 39.6/microl (RI <5/microl) and a total protein concentration of 1.28 g/l (RI <0.45 g/l). Cytology of the CSF fluid revealed increased red blood cells (RBCs) and scattered platelets. The nucleated cells were approximately 8/1000 RBCs and they comprised 30% non-degenerate neutrophils, 46% small and a few medium lymphocytes, 23% large mononuclear cells (monocytes and macrophages) and 1% eosinophils. One macrophage showed erythrophagocytosis; otherwise, cell morphology was unremarkable. No aetiological agents were seen. These findings were consistent with either local haemorrhage or blood contamination.\nBased on history, neurological examination and investigations, a presumptive diagnosis of spinal cord trauma was made. Daily physiotherapy was initiated included passive range of motion (PROM) exercises. The patient was managed symptomatically with buprenorphine (20 mug/kg IV q8h), dexamethasone (0.1 mg/kg IV q24h, increased to 0.2 mg/kg on result of negative T gondii), clindamycin (25 mg/kg PO q8h, withdrawn on result of negative toxoplasma), ranitidine (2 mg/kg IV q12h) and prazocin (250 mug/kg PO q8h) to aid frequent bladder expressions. Lactulose and enemas containing sodium citrate (450 mg) and sodium alkylsulfoacetate (45 mg [Micralax; RPH Pharmaceuticals]) were used to manage faecal retention. Seven days after the initial trauma the patient failed to show significant signs of improvement and appeared to have persistent cervical hyperaesthesia, despite analgesia and physiotherapy. Pre- and post-contrast MRI (3Philips Intera 1.5-T Pulsar System; Philips Medical Systems) study of the cervical and thoracic spine and brain was performed. All visible intervertebral discs showed normal T2 fluid intensity (Figure 1a). At C6-C7 the intervertebral disc was protruding into the mid-ventral vertebral canal, causing thinning of the subarachnoid space circumferentially and mild dorsal cord deviation (Figure 1b,c). Extending from C5-C6 to cranial C7, the spinal cord contained a large area of T1, T2 and T2* hyperintensity, with only the left dorsolateral aspect of the cord unaffected. In the same area, there was marked contrast enhancement of the right lateral aspect of the spinal cord (Figure 1d). MRI findings were therefore consistent with a C6-C7 acute non-compressive nucleus pulposus extrusion with secondary C5-C7 spinal cord chronic haemorrhage. The contrast enhancement was considered to be most likely due to vascular damage, inflammation secondary to the trauma and chronic haemorrhage. CSF analysis was repeated 7 days post-trauma and was consistent with normal CSF: total cell count 0 (RI <5/microl) and total protein concentration 0.35 g/l (RI <0.45 g/l), suggesting resolution of the previously suspected subarachnoid haemorrhage.\nFollowing MRI, a splint was applied to the right thoracic limb to prevent knuckling and abrasion of the dorsal paw, and to assist ambulation. By 10 days post-trauma the anisocoria, cervical hyperaesthesia, left-sided paresis and postural deficits, pelvic limb hypertonus, and faecal and urinary retention had resolved. The kitten was able to run, jump and climb. However, the distal right thoracic limb was still paralysed, and over the preceding 10 days progressive contracture of the right carpus developed. PROM exercises elicited pain on extension of the carpus and flexion of the elbow, preventing the physiotherapy from being performed effectively. Splints were trialled, but they also elicited discomfort. Radiographs of the thoracic limbs were taken. No soft tissue abnormalities were detected. An 18 lateral deviation of the right carpus was evident, causing narrowing of the radiocarpal joint space affecting primarily the intermedioradial carpal bone. This was consistent with suspected contracture of the triceps and flexor muscles of the carpus and digits.\nThe contracture resulted in the development of a non-weightbearing carpal hyperflexion (Figure 2). Amputation of the limb or a therapeutic trial with BTX were discussed; the owners elected for the latter. Under general anaesthesia, 90 units of BTX type A (BTX-A [Botox Cosmetic; Allergan]) were injected into the flexor muscles of carpus and digits, and 10 units into the triceps. The dose was similar to what has previously been shown to be safe in cats in an experimental study. The aim of the treatment was to alleviate discomfort and reduce the muscle spasticity, allowing the use of a brace and physiotherapy to be performed. The patient was monitored in hospital for 48 h after the treatment; there were no adverse clinical reactions. The cat was discharged with a splint to aid ambulation; the owners were instructed to change the splint daily and perform daily physiotherapy.\nAt a re-check 8 days post-BTX-A treatment the owners perceived the cat to be pain-free and ambulating well with support from the splint. The owners were managing well with the daily splint changes and rehabilitation exercises, although they reported that the cat resented the removal of the tape that kept the splint in place. Examination showed erythema where the tape was applied. The tape was replaced with a custom-made brace made with a spoon splint and Velcro straps. Repeat neurological examination showed that in the right thoracic limb postural reactions were still absent, sensation was decreased but now present at the second and fifth digit, and the muscle contractions had resolved but muscle tone was decreased. The postural reactions and tone in the other limbs were now normal. Mild hyperaesthesia of the cervical, epaxial and shoulder muscles was present, but there was a greatly improved level of comfort on manipulation of neck, right shoulder, elbow and carpus vs before BTX-A treatment. The owners reported that the cat was very active; we suspected that the neck and shoulder muscles were subjected to an increased load secondary to the reduced tone and function of the injected muscles of the right thoracic limb.\nThe cat continued to make a clinical improvement. At 6 months post-BTX-A treatment, sensation was present but still decreased on the distal right thoracic limb. The right triceps brachii muscle was atrophied and a mild increase in muscle tone had returned. However, normal mobility was not impeded and the cat was pain free and able to place its right thoracic paw in a normal position when ambulating, only requiring support from the splint after prolonged periods of exercise (see the video in the supplementary material). The residual clinical signs did not appear to be affecting its quality of life.",
"gender": "Male"
}
] |
PMC8822334
|
[
{
"age": 0,
"case_id": "PMC10203705_01",
"case_text": "This 8-month-old female infant was admitted to the hospital with a severe lung infection, presenting with a recurrent cough and shortness of breath. Additionally, the infant demonstrated a significant difficulty in feeding and had a body length and weight below the 3rd percentile for her age, indicating developmental retardation. Her parents reported poor performance in motor function and a significant neurodevelopmental delay, with acute critical illness, malnutrition, and thin subcutaneous fat. The infant's head circumference measured 39 cm and she had a square skull with a large anterior fontanel measuring 3 x 3 cm. Her visual and hearing evaluations were normal. The infant also exhibited high levels of muscle tension and a rupture and scab on the top of the head. Two lower incisors had erupted, and the pharynx was red with hoarseness in her voice. Respiratory movements were symmetrical in both lungs with rough breath sounds, significant wet rales heard bilaterally, and occasional wheezing sounds. The apex beat was located in the lower left, and there was a sense of lift in the precordial area, with an enlarged heart boundary and increasing heart rate, though the heart sound was dull, and a level II-III systolic murmur was recorded. The abdomen was soft with a medium-textured liver located 6 cm below the subcostal margin and 4-5 cm below the xiphoid process, and a non-palpable spleen. The first and second toes on the left foot were dry and black, with clear boundaries between them and surrounding healthy tissue. The muscle strength was reduced to grade 3 in the upper limbs and grade 2 in the lower limbs, indicating global muscle weakness. She was unable to sit independently and failed to handle grasp building blocks by 12 months of age. Moreover, she failed to produce pronunciation clearly. A Gesell evaluation conducted at 12 months revealed a significant delay in gross and fine motor development. No pathological or meningeal irritation signs were present. The parents reported no positive family history of cardiac attack or cardiovascular disease and declined genetic sequencing analysis and third-generation in vitro fertilization in the next pregnancy. The mother's first pregnancy was terminated at 28 weeks due to awareness of fetal tetralogy of Fallot.\nThe results of a blood gas analysis indicated the presence of metabolic acidosis, with a pH of 7.278, a BE of -11.8 mmol/L, and an level of 13.3 mmol/L. The results of blood biochemical tests showed elevated levels of B-type natriuretic peptide (1526.27 pg/mL, normal range <146 pg/mL). No significant findings were identified in the results of hepatic and renal function tests. Elevated levels of blood ammonia (108 umol/L) were noted. An electrocardiogram (ECG) revealed abnormal signals in the right atrium and suspected right ventricular hypertrophy, as well as sinus tachycardia and ST segment changes (depression in lead I, II, III, aVF, and V3-V6 of 0.1-0.5 mV and an increase in aVR and V1 of 0.1-0.2 mV), as illustrated in Figure 1A. Heart failure and cardiac malformation were suspected, leading to the immediate performance of an echocardiogram. The echocardiogram identified a severe type of CHD, type I truncus arteriosus, with ventricular septal defect (VSD) and patent foramen ovale (PFO) (Figure 1B). The aorta was found to be in the right position, with mild semilunar valve regurgitation. The neurological system was assessed through cranial computed tomography (CT) scanning, which showed the presence of bilateral apical, occipital, and temporal subdural effusions; slightly wider bilateral lateral ventricles and annular cisterns; and bilateral cerebral hemispheric parenchyma atrophy (Figure 1C). Chest CT scanning also identified the presence of pulmonary infection and enlargement of the left atrium and left ventricle, while CT scanning did not show any abnormalities in the kidneys.\nIn the analysis of the proband, a novel homozygous mutation in the TMEM260 gene was identified. The c.1336_1339DEL homozygous variant was found to result in a frameshift mutation in the amino acid sequence (p.L447Vfs*9). The parents of the proband were found to be carriers of the variant by WES analysis and did not exhibit any clinical manifestations (Figure 2A). No other cardiovascular-related variants were identified in the proband or her parents. The frequency of this mutation in the general population is not recorded in any database (Figure 2B). The identified frameshift mutation resulted in the deletion of a few bases (TCTC) from positions 1336 to 1339 in the TMEM260 gene. This led to a change in amino acid 447 from leucine to valine and the creation of a stop codon after the ninth amino acid, causing a structural deletion in the TMEM260 protein and resulting in the loss of gene function (Figure 2C). According to MutationTaster analysis, the variant was determined to be a disease-causing mutation with a probability value of 1.00. The frameshift deletion caused a complete disruption in the structure of the TMEM260 protein, particularly in the transmembranous part, which impaired its normal molecular function. As the structure and function of the TMEM260 protein are not well understood, the discovery of this pathogenic site is of great significance for advancing the understanding of this protein. A summary of all reported variants of TMEM260 is presented in Figure 2D and Table 1.\nThe infant was diagnosed with a severe and complex CHD of type I persistent truncus arteriosus, VSD, and a right aortic arch. The infant also displayed critical neurodevelopmental delay and neurological dysfunction. Despite undergoing a multi-phase surgical correction and receiving treatment with anti-infection measures, myocardial protection, inotropic agents, and mechanical ventilation, the patient suffered several cardiac arrests during hospitalization in the cardiac care unit. These were managed with prompt cardiopulmonary resuscitation.\nPost-surgery, the patient developed severe antibiotic-resistant infections, including carbapenem-resistant Acinetobacter baumannii and Elizabethkingia meningitidis, and was treated with tigacycline, polymyxin, and sulperazon.\nDuring follow-up, the patient presented with recurrent heart failure and pulmonary infections. Echocardiography showed dilation of the aorta, a small shunt through the interventricular septum, slightly accelerated forward blood flow through the artificial pulmonary valve with slightly strong ultrasound signals, moderate tricuspid regurgitation, and a slightly reduced left ventricular contractile function. The patient also experienced regression in motor performance, and a follow-up cranial CT scan revealed aggressive progression of cerebral atrophy (Figure 1D).",
"gender": "Female"
}
] |
PMC10203705
|
[
{
"age": 12,
"case_id": "PMC3184518_01",
"case_text": "A 62/12-year-old boy was referred to our endocrine clinic for marked short stature. Following an uncomplicated pregnancy, the patient was born at term by Caesarean section because of breech presentation (Table 1). His anthropometric measurements at birth and at admission are given in Table 2. The patient was the first child of healthy first-cousin parents. His motor and mental development were normal. Physical examination findings were compatible with 3M syndrome and are presented in Table 1 and in Figures 1A and 2A. \n Complete blood count and biochemical analysis were unremarkable. Thyroid function tests were in the normal range. The patient was negative for anti-endomysial antibodies (EMA) IgA. He had a normal response to growth hormone (GH) stimulation test with clonidine (peak GH level was 19.6 ng/mL). Physiological GH profile during sleep was within normal limits (mean GH: 7.6 ng/mL). Insulin-like growth factor-1 (IGF-1) \ngeneration test for excluding GH insensitivity syndrome (GHIS) was normal (Table 3). Due to phenotypic findings in this boy and his sister (Case 2), the family was referred for genetic counseling. Radiographic bone survey showed slender long bones with diaphyseal constriction and flared metaphyses, slender ribs, thick cortex of the tibia and femur, tall lumbar vertebrae, a small pelvis, short femoral neck and short iliac wings ([tif:Figure 3. Lateral radiography of the vertebrae showing tall vertebral bodies with reduced anterior-posterior diameters (Patient 1)|9-3.tif]Figures 3[/tif] and [tif:Figure 4. Radiography of the upper and lower extremities showing slender long bones (Patient 1)|9-4.tif]4[/tif]). Abdominal ultrasonographic examination was normal. \nPatient 2\nThis patient was the younger sister of Patient 1. She was born at term after an uncomplicated pregnancy and Caesarean section because of breech presentation (Table1). Her birth weight and length are given in Table 2. Her developmental milestones were achieved within normal time frames. Anthropometric measurements at age 411/12 years are given in Table 2. The findings in her physical examination were very similar to those of her brother (Figure 1B). Results of complete blood count and biochemical analysis were unremarkable. Thyroid function tests were in the normal range. EMA IgA was negative. The patient had a normal response to GH stimulation test with clonidine (peak GH level was 40 ng/mL). GHIS was excluded with IGF-1 generation test (Table 3). Skeletal survey showed slender long bones with diaphyseal constriction and flared metaphyses, slender ribs, tall lumbar vertebrae, small pelvis and short iliac wings (Figure 5). Abdominal ultrasonographic examination was normal. The phenotypic findings in these sibs in combination with skeletal radiography and consanguinity in the family led us to a diagnosis of 3M syndrome. Unfortunately the parents refused molecular genetic analysis. \nFamily 2 (Patients 3 and 4)\nPatient 3",
"gender": "Male"
},
{
"age": 12,
"case_id": "PMC3184518_02",
"case_text": "This 1011/12 -year-old boy was referred to our clinic for severe short stature. He was the first child of first-cousin parents. He was born small for gestational age (Table 1). His developmental milestones were achieved within normal limits. He had incomplete response to GH stimulation as well as to exogenous GH therapy given for two years in another pediatric endocrinology department and the treatment had been stopped. His physical and skeletal findings were not compatible with GH deficiency. The skeletal dysplasia was not considered at genetic evaluation at age 9 and GH therapy was recommended. GHIS was excluded with IGF-1 generation test (Table 3). The patient's anthropometric and physical examination findings are given in Table 1 and in Figures 1C, 2B and 6. His biochemical and hormonal results were within normal limits. Skeletal survey of the patient showed slender long bones with diaphyseal constriction and flared metaphyses, slender ribs, thick cortex in the tibia and femur, short femoral neck, tall lumbar vertebrae, small pelvis and short iliac wings (Figure 7). \nPatient 4",
"gender": "Male"
},
{
"age": 12,
"case_id": "PMC3184518_03",
"case_text": "This boy was the younger brother of Patient 3 (Figure 1D). At admission, the patient was 74/12 years old. He suffered from short stature, as his brother. His weight and length at birth and at admission are given in Tables 1 and 2. His developmental milestones were achieved within normal limits. The boy had testicles small for his age. He had a normal response to GH stimulation test with clonidine (peak GH level was 18.2 ng/mL). GHIS was excluded with IGF-1 generation test (Table 3). Skeletal survey showed slender long bones with diaphyseal constriction and flared metaphyses, slender ribs, hypoplasia of the 12th ribs, tall lumbar vertebrae, short femoral neck, a small pelvis, and short iliac wings (Figure 8). Abdominal ultrasonography was normal. The diagnosis of 3M syndrome was established. Genetic analysis could not be performed because the family moved to a different city.",
"gender": "Male"
}
] |
PMC3184518
|
[
{
"age": 68,
"case_id": "PMC3234154_01",
"case_text": "A 68-year-old female, with end-stage renal disease secondary to diabetic nephropathy had been receiving hemodialysis for 4 years. Her past medical history comprised: peripheral arterial disease with resultant bilateral above the knee amputation and iliac artery endovascular stenting; essential hypertension; lifelong tobacco consumption. She had no candidate vessels for venous catheter placement, other than small caliber femoral veins.\nA decision was made to insert two smaller, more flexible 10 French catheters into bilateral femoral veins to allow better venous reception and more secure tunneling. This takes into account our experience with the use of larger, less supple catheters and the acute angles involved with typically tunneling upwards through the lower abdominal fascia. The patient was keen to continue dialysis and accepted the enhanced risk (two tunnels) of bilateral lower limb venous thrombosis and bacteremia. We present this interesting image Figure 1 (abdominal X-ray), demonstrating bilateral cuffed tunneled femoral dialysis access; concurrent vascular ectopic calcification and the presence of a left iliac stent. We understand this to be, the first medical image in the world literature of bilateral cuffed femoral dialysis catheters in situ - an unlikely clinical situation.",
"gender": "Female"
}
] |
PMC3234154
|
[
{
"age": 69,
"case_id": "PMC2883827_01",
"case_text": "A 69-year-old man underwent successful laparoscopic inguinal hernia (TAPP) repair for a right indirect inguinal hernia. Apart from complaining of mild chronic right iliac fossa discomfort, persisting for some time after the repair, the patient made an uneventful recovery from his primary procedure. He presented to the Emergency Department 18 months later with signs and symptoms suggestive of acute appendicitis. He was prepared for the theatre and consented for diagnostic laparoscopy and appendicectomy. Following administration of antibiotics, an emergency diagnostic laparoscopy was performed and digitally recorded utilising the Karl Stortz AIDA II Video-endoscope System.\nDuring diagnostic laparoscopy the greater omentum was found to be attached to the anterior abdominal wall, along a line corresponding to the peritoneal closure from the TAPP repair [Figure 1]. The omentum was carefully divided with bipolar diathermy taking care not to expose the underlying mesh. The omental adhesiolysis in the right iliac fossa revealed a small amount of free fluid and a turgid appendix overlying and adherent to the peritonealised Mesh from the previous right laparoscopic inguinal herniorraphy [Figures 2 and 3]. The turgid appendix was carefully dissected off the peritonealised Mesh using sharp and blunt dissection; again taking care not to expose the underlying Mesh. An uncomplicated laparoscopic appendicectomy was performed, and a local washout with normal saline completed the procedure. As no Mesh was found to be exposed during the procedure the decision was made to leave the Mesh in situ and a short course of antibiotics prescribed postoperatively. The patient made an uneventful recovery, and was discharged home the following day without subsequent complication. Histology revealed severe acute suppurative appendicitis with early microscopic mucosal ulceration and perforation.",
"gender": "Male"
}
] |
PMC2883827
|
[
{
"age": 12,
"case_id": "PMC3195389_01",
"case_text": "A 12-year-old male presented with complaints of poor urinary stream and a swelling on the ventral aspect of penile urethra (Figure 1). Swelling was a soft cystic, fluctuant, and compressible, and it collapsed completely on manual pressure with urine coming out per urethra. Urine analysis, routine blood counts and blood urea, and serum creatinine were normal. Ultrasonography showed both kidneys normal in size and shape and with normal urinary bladder. Micturating urethrogram was done, and it showed the presence of a wide-mouthed diverticulum in distal penile urethra and the proximal lip of diverticulum forming an acute angle with normal caliber proximal urethra and normal urinary bladder without any vesicoureteric reflux (Figure 2). Patient was managed by open procedure. The diverticulum was opened by incision on the ventral aspect of penile shaft, and its distal lip was widened by abutting a triangular flap taken from one half of the diverticular wall, and the double breasting of urethral suture line was also done using the other half of diverticular wall after scraping its mucosa. Postoperative recovery was uneventful.\nA six-month-male child presented with poor urinary stream and a cystic swelling at the penoscrotal junction (Figure 3). On investigations, USG abdomen revealed normal both kidneys as well as urinary bladder. Micturating urethrogram showed anterior urethral diverticulum in midpenile urethra. The patient was managed by open diverticulectomy along with the double breasting of urethral suture line. In the postoperative period, the patient had normal urination without any swelling in the penile urethra and is on regular followup.",
"gender": "Male"
}
] |
PMC3195389
|
[
{
"age": 60,
"case_id": "PMC9403065_01",
"case_text": "On 16 January 2017, a 60-year-old man was diagnosed with cT2N3M1b IVB stage NSCLC. The results of positron emission tomography (PET) showed that the patient had tumor metastasis in the right cervical lymph node, in addition to primary lesion in the upper lobe of the right lung. Thus, the right lymph node was removed surgically for pathologic diagnosis. Next-generation sequencing (NGS) analysis revealed the presence of echinoderm microtubule-associated protein-like 4 (EML4)-ALK fusion. The patient subsequently received crizotinib as first-line treatment for 11 months and alectinib as second-line treatment for 24 months.\nDue to the development of drug resistance, after onset of severe backache, oligoprogression involving third to fifth lumbar vertebrae was found by computed tomography (CT) and validated with magnetic resonance imaging (MRI). Therefore, the patient received stereotactic body radiotherapy (SBRT) with the dose of 30 Gy/5f for the lumbar lesion from 10 January 2020 to 16 January 2020. Pain relief of the patient was persistently observed after SBRT. Follow-up MRI on March 2, 2020, showed that the soft tissue of metastasis lesions around the lumbar spine reduced significantly, while CT showed that the primary lung lesion was slightly enlarged ( Figure 1 ).\nA 23-valent pneumococcal polysaccharide vaccine (PCV) (Pneumovax, MSD) was given 3 months later after radiotherapy, on 6 April 2020, as a precautionary measure to prevent pneumonia. Strikingly, a routine CT on 21 April 2020 showed a significant enlargement of the primary focus after the injection of PCV ( Figure 1 ). In order to avoid further possible progress, resection was conducted on 28 April 2020. Impressively, an abscopal complete response (CR) of primary lesion in the right lung was pathologically confirmed after the resection. Hematoxylin-eosin (HE) and immunohistochemistry (IHC) staining showed that the primary lung lesion was mainly composed of map-like necrosis ( Figure 2A ), while there was a small amount of ALK-positive tumor cells that remained in the lumbar bone marrow of metastasis lesion ( Figure 2B ). Pathologically, multifocal granulomas were formed in the primary pulmonary lesion, with thin-walled capillaries and proliferative fibroblasts on the edge of the tumor bed and peripherally infiltrating immune cells around the central necrosis ( Figure 2A ). There were multinucleated giant cells accumulating and a reactive proliferating vasculum in the tumor bed. In addition, early tertiary lymphoid structures (TLSs) were formed in the primary lesion ( Figure 2A ). Tissue scan by imaging mass cytometry (Fluidigm company) showed primary lesion infiltrated by tumor-infiltrating lymphocytes (TILs), which include CD4+/CD8+ memory T cells, CD68+ tissue macrophage cells, and CD16+ natural killer (NK) cells ( Figures 3A-C ). These results indicated that the primary lesion experienced a robust immune response. After radiotherapy, the patient kept taking the second-generation ALK TKI regularly (alectinib tablets, 600 mg twice a day). To date, the patient is in healthy status and the progression-free survival of the patient has been sustained for more than 26 months after the abscopal response.",
"gender": "Male"
}
] |
PMC9403065
|
[
{
"age": 54,
"case_id": "PMC8457354_01",
"case_text": "A 54-year-old man was admitted with a 2-month history of pain and weakness in both shoulders. The patient was an office worker with no past medical history except for well-controlled hypertension and diabetes for 10 years. Two months prior, he complained of sudden onset of pain in both shoulders and developed the weakness of both shoulder girdles 2 days later. The weakness in the left shoulder girdle progressed, and weakness in the left wrist and finger extensors newly developed over the next 4 weeks. There were no preceding trauma, immunization, or fever, but he reported weight loss (7 kg) over the 1 month before pain onset. The patient had never regularly exercised other than walking for glycemic control. The symptoms did not change for the next 1 month before admitting to our hospital. A neurological examination showed paresis of shoulder abduction [right: medical research council grade (MRC) 4/5, left: MRC 3/5], elbow flexion (right: MRC 4/5, left: MRC 3/5), elbow extension (right: MRC 4/5, left: MRC 3/5), wrist flexion (right: MRC 4/5, left: MRC 4/5), wrist extension (right: MRC 4/5, left: MRC 2/5), and extension of fingers (right: MRC 4/5, left: MRC 2/5). The muscle power of bilateral finger flexion and lower limbs was normal. A hypesthesia area was identified in the lateral sides of bilateral shoulders and arms, and deep tendon reflexes were reduced in the upper limbs. Atrophy of both shoulder girdles was observed (Figure 1). A complete blood cell count and routine biochemical analysis were normal except for fasting glucose (151 mg/dl) and HbA1c (7.3%). Other serological tests for human immunodeficiency virus, hepatitis B, C, and E, syphilis, and autoimmune diseases including angiotensin-converting enzyme, anti-nuclear antibody, double-stranded DNA, anti-Ro, anti-La, and anti-neutrophil cytoplasmic antibody were negative. An initial nerve conduction study (NCS), performed 2 months after symptom onset, showed a decrease of compound muscle action potential amplitude in the left musculocutaneous nerve (Figure 2A, recording of the biceps brachii muscle) and axillary nerve (Figure 2B, recording of the deltoid muscle) and a significant asymmetry of sensory nerve action potentials of the left lateral antebrachial cutaneous nerve (2.0 muV) compared to the right side (5.0 muV). NCS findings of the bilateral median, ulnar, peroneal, tibial, and sural nerves were normal. Needle electromyography (EMG) showed various degrees of denervation potentials in bilateral infraspinatus, supraspinatus, left deltoid, left triceps, left extensor digitorum, and left flexor carpi radialis muscles. There was reduced recruitment of motor unit in bilateral serratus anterior and right deltoid muscles. The results of initial electrophysiological studies suggested the involvement of bilateral upper and middle trunks (C5-C7) of the brachial plexus, particularly a more severe involvement of the left brachial plexus. Ultrasound with a 18-6-MHz linear transducer was performed on the same day as NCS/EMG and showed no swelling in the brachial plexus, median, radial, ulnar nerves. Magnetic resonance imaging of the brachial plexus was carried out 3 days after NCS/EMG, showing mild swelling without enhancement at the cord level of the left brachial plexus. Based on the clinical history of the acute intense pain of shoulders and weakness of upper limbs with preceding weight loss, considering the involvement of bilateral upper and middle branches of brachial plexus in the electrophysiological studies and having excluded other causes by imaging and serological studies, a diagnosis of diabetic NA was made. Oral steroid (1 mg/kg) was administered 9 weeks after symptom onset and tapered over 4 weeks. Bilateral shoulder pain and weakness, except for weakness of the left wrist and finger extensors, improved. In the follow-up study of the left axillary (Figure 2C) and musculocutaneous (Figure 2D) nerves 4 weeks after the initial study, the amplitude of compound muscle action potential was improved. However, on the conduction study of the left radial nerve that was not included in the initial study, we detected a conduction block between the spiral groove and the elbow (Figure 2E, recording of the extensor indicis muscle). The nerve action potentials of bilateral superficial radial sensory nerves were symmetric. A 4-week follow-up ultrasound revealed constriction of the left posterior interosseous fascicle within the left radial nerve at 1.5 cm proximal to the lateral epicondyle (Figures 3A-D). Surgical exploration for nerve constriction was considered but refused by the patient. Therefore, low-dose oral steroids and a rehabilitation program were continued for another 2 months. A 5-month follow-up NCS revealed a persistent conduction block of the left radial nerve (Figure 2F). The weakness of the left wrist and finger extensors was unchanged (MRC 2/5), but other remaining upper limb muscles were normal, except for the left shoulder abduction (MRC 4/5), left elbow flexion (MRC 4/5), and extension (MRC 4/5). Surgical exploration was performed 6 months after symptom onset and confirmed fascicular constriction at the area identified by ultrasound, for which interfascicular neurolysis was performed (Figures 3E,F). During the 16-month follow-up, the weakness in the wrist and finger extensors did not improve (MRC 2/5). We considered a tendon transfer to improve hand function a year after neurolysis, but the patient did not want secondary surgery.",
"gender": "Male"
}
] |
PMC8457354
|
[
{
"age": 8,
"case_id": "PMC5965336_01",
"case_text": "The patient chosen was an 8-year-old boy involved in a road traffic accident. Figure 1a-c illustrates scar tissue on the right thigh and peri-patellar areas 18 months after a severe de-gloving injury. The patient did receive acute local treatment (debridement and split thickness graft [SSG]) but following partial loss of the graft, most of the wound had healed by secondary intention. Despite the application of pressure garments, the resultant area demonstrated hypertrophic scarring with some areas being painful and extending beyond the site of injury consistent with keloid scaring. The child had a history of repeated episodes of purulent discharge from crypts within the scar tissue and reports of local hospital admission for drainage of crypt abscesses and antibiotic therapy. The patient presented to our clinic with open, unstable areas within the scar that were contaminated with swab-proven staphylococcus aureus, sensitive to co-amoxiclav. The rationale for the application of Integra in this case was to remove unstable scar and crypts that were causing ongoing issues, minimise further donor site morbidity, improve cosmesis and provide a reconstruction with superior elasticity to accommodate growth.\nThe first surgical goal was to create a clean surgical field in preparation for Integra application. Visible crypts were excised and open areas debrided, removing potential foci of contamination/infection (Figure 2a, b). Once the area was clean, and bacterial swab negative, the remaining unstable, unaesthetic scar would be excised and resurfaced with a two-stage, standard, Integra application. This would be done as an outpatient with regular review.\nDespite our careful planning to decrease the risk of Integra loss, one factor not bargained for was the weather! Gaza had the warmest summer on record for 80 years with temperatures topping 45 C during the day. Manufacturer instructions state that the dermal regeneration template must be kept between 2 C and 30 C. During this period in Gaza, electricity was rationed with households receiving a supply of 4 hours per day. Fortunately, our pharmacy had air-conditioning with a 24 hours back-up generator supply. Although this allowed us to store the product, the ambient temperature during transfer of the product and application would have been well above the recommended storage temperature. For this reason, the surgical plan was changed to cleaning up the boy's open areas within the scar tissue at one mission and two months later, on the following mission, a second surgeon (first author), would attempt application of the dermal regeneration matrix.",
"gender": "Male"
}
] |
PMC5965336
|
[
{
"age": 12,
"case_id": "PMC9137965_01",
"case_text": "By March 2022, several countries, including Saudi Arabia, have simplified COVID-19 rules by relaxing some safe management measures such as social distancing and mask wearing. However, the Saudi ministry of health kept the condition of three vaccine doses. This decision is part of a public health strategy that continues to monitor virus variants, mainly Omicron and its sublineages BA.1 and BA.2. WHO's Technical Advisory Group requests countries to continue to be vigilant because of potential significant rise in the number of infections. Although these variants might resist neutralizing antibodies in the blood, the vaccine allows preventing severe illness and death. Unlike several countries, Saudi Arabia was spared from the lack of oxygen generators, the most important medical equipment for hospitalized patients. The main concern is, however, regulations regarding vaccination. The vaccine was made mandatory for individuals over 12 years old. The open question is the need for vaccine for children aged from 5 to 11 years. Therefore, managers need to simulate the effect of vaccination and make predictions of the virus spread. This work tries to provide them with an efficient tool that captures the specificity of the Saudi case.",
"gender": "Unknown"
}
] |
PMC9137965
|
[
{
"age": 73,
"case_id": "PMC9125062_01",
"case_text": "A 73-year-old man presented with chest pain while playing golf. His medical history was significant for prostate cancer treated with radical prostatectomy 7 years ago, hypertension, and hyperlipidemia. Initial workup revealed isolated anemia with a hemoglobin of 7.4 g/dL. Myocardial infarction was ruled out and his angina was attributed to cardiac demand ischemia in the setting of anemia. His other blood counts including white blood cells and platelets were normal. Anemia workup revealed normal iron studies but revealed significant reticulocytopenia with a reticulocyte of 0.07% (normal values 0.5%-2.5%).\nA thorough and detailed medication history failed to implicate any attributable medications. Nutritional causes of anemia such as iron, vitamin B12, folate, and copper deficiencies were ruled out. Infectious etiologies for common infections such as HIV, hepatitis, and Epstein-Barr virus (EBV) were negative. Parvovirus B-19, which is known to have a strong association with PRCA, was also checked for by polymerase chain reaction (PCR) and was negative. Hemolysis workup was insignificant as lactate dehydrogenase, haptoglobin, and indirect bilirubin were all within normal ranges. Coombs test was also negative. Hemoccult testing negative for any potential gastrointestinal bleeding. Autoimmune workup including an anti-nuclear antibody screen was also unremarkable.\nThis led us to undergo a bone marrow biopsy. Pathological review showed less than 1% erythroblasts with a mildly hypocellular bone marrow with no signs of dysplasia or neoplastic changes (Picture 1-4). Fluorescent in situ hybridization (FISH) and PCR-gene rearrangement for malignant etiologies were negative. Computerized tomography of the chest was performed to evaluate for any evidence of a thymoma and was negative. Ultimately, an extended cytogenetic testing of the bone marrow revealed DNMT3A mutation.",
"gender": "Male"
}
] |
PMC9125062
|
[
{
"age": 15,
"case_id": "PMC3752856_01",
"case_text": "A 15-year-old male known to have the CAH salt-wasting type diagnosed earlier in childhood. He presented with synchronous and progressive enlargement of bilateral testicular masses during substitutive medical therapy.\nOn examination, he had normal stature (body mass index: 21.2 kg/m2). Genital examination demonstrated firm painless 8 cm mass involving the right testis and 10 cm mass involving the left testis.\nSemen analyses revealed azoospermia. Serum hormonal screening showed high 17-OH progesterone; 24.1 nmol/L (1.5-6.4 nmol/L).\nSerum tumor markers were low; alpha-fetoprotein was 1 ng/mL (0-44 ng/mL); beta-human chorionic gonadotrophin was <12 IU/L (<5 IU/L).\nTesticular ultrasound examination confirmed the presence of bilateral hyperechogenic hypervascularized lesion; right: 8.6 cm x 3.5 cm; left: 8.4 cm x 5.5 cm [Figure 1]. These features although non-specific, raised the possibility of a testicular neoplasm.\nConsidering the possibility of malignant testicular neoplasms, a surgical intervention was scheduled.\nAt surgery, bilateral large firm, lobulated masses were replacing the testicular tissue. The patient underwent bilateral testicular incisional biopsies and the specimens were sent to our department for intra-operative consultation.\nMacroscopically, both specimens (2.5 cm from the right testis and 1.8 cm from the left testis) appeared light brown with lobular rubbery cut surface. Frozen sections from each were examined. Microscopic examination showed a complete replacement of the normal testicular tissue by sheets and nests of large round and polygonal cells with defined cell borders, abundant eosinophilic cytoplasm and round central nuclei. Nests of cells were separated by dense fibrous tissue [Figure 2]. The morphological features were of \"LCT-like\" lesion! Nevertheless, Reinke crystals were not seen. At this point, the differential diagnosis was either LCT or mass-forming TART.\nThe clinical picture of CAH and the bilaterality of the lesions were more compatible with the TART. However, rapid enlargement and the destruction of the testicular parenchyma implying irreversible damage together with worrisome atypical ultrasound features were in keeping with LCT. Two known TART characteristic features if present could strengthen its probability: Hilar location and evidence of response to suppressive therapy. In our case, the lesions occupied the entire testis without definitive hilar location. In addition, no suppressive therapy was tried; the patient was on substitutive therapy when operated.\nBeing indistinguishable from TART on H and E sections, LCT was difficult to exclude. The pathologic frozen section diagnosis was of benign neoplasm.\nA decision of bilateral orchiectomy was made and the specimen was sent to our department for permanent examination.\nMacroscopically, the lesions were bilateral involving almost the entire testes separated into lobules with prominent fibrous bands [Figure 3].\nMicroscopically, no normal testicular tissue was identified. The lesions were composed of sheets, nests and cords of polygonal cells with abundant eosinophilic cytoplasm. Few of these cells contained lipochrome pigments, but Reinke's crystals were absent. There was mild nuclear pleomorphism without mitotic activity. Some lymphoid aggregates were seen [Figure 4]. Immunohistochemical analyses were performed [Figure 4]. The polygonal cells showed positivity to four markers known to be shared between LCT and TART namely inhibin alpha, melan A, vimentin, and calretinin. However, the cells showed a distinguishing immuno-profile of TART: Intense and widespread staining for CD56, patchy yet strong staining for synaptophysin and non-reactivity to CD10.\nThese immunohistochemical features with the absence of Reinke crystals leaded to the final diagnosis of TART and implied a better prognosis.",
"gender": "Male"
}
] |
PMC3752856
|
[
{
"age": 0,
"case_id": "PMC10311010_01",
"case_text": "A 20-month-old girl presented to our pulmonology department with chief complaints of cough for 1 month and fever for 2 weeks. She had a temperature of 38.0 C for 2 weeks. After experiencing cough for 3 weeks, she was taken to a local hospital. The patient's guardian denied any evidence of foreign body-associated choking or inhalation. Routine blood tests showed a white blood cell (WBC) count of 22.68 x 109/L, neutrophil ratio of 69.2%, and C-reactive protein level of 75.88 mg/L. Chest plane CT showed consolidation of most of the left lung with insufficiency and a small amount of pleural effusion (Figure 1). Consequently, the patient received sodium cefotaxime for 5 days for the treatment of lung infection. Nonetheless, her symptoms did not diminish. Therefore, she was transferred to our hospital for further evaluation and treatment. Our treatment team works at a tertiary children's hospital, which is also a national regional medical center. Our department is also a training base for respiratory specialists, with more than 2,000 cases of children's flexible bronchoscopy performed every year.\nWhen the patient was admitted to the hospital, she was in poor spirits and had shortness of breath and diminished breath sounds in her left lung. Her infection-related markers were significantly elevated. We treated her with intravenous antibiotics and performed an x-ray of her lung, which revealed opacification in the left lung indicative of pneumonia and left atelectasis (Figure 2A). Based on examination and imaging, she underwent flexible bronchoscopy and broncho-alveolar lavage. During the bronchial examination, an abnormal reflective object was found in the left main bronchus, which was removed using a foreign body retrieval basket (Boston Scientific Corporation M00513200), revealing a nutshell fragment (Figures 2B,C). Additional granulation tissue was observed around the original foreign body, with swollen mucosa that easily bled when touched. A large purulent discharge was released after removing the foreign body from the left main bronchus, and more granulation tissue formation around the original foreign body was observed. The broncho-alveolar lavage fluid (BALF) samples were assessed using metagenomic next-generation sequencing, which revealed 695 sequence reads associated with Streptococcus pneumoniae. Her BALF culture and blood culture results were negative. Mycoplasma Pneumoniae immunoglobulin M and immunoglobulin G and nucleic acid tests were negative.\nEnhanced CT for the lung on the seventh day of hospitalization showed infectious lesions in the left lung with consolidation, atelectasis, and multiple cystic changes in the lower lobe of the left lung, suggesting necrotizing pneumonia (Figure 3). She was treated with intravenous antibiotics of vancomycin (Day1-Day6) in combination with cefoperazone sulbactam sodium (Day1-Day14) and piperacillin tazobactam sodium (Day15-Day27) as anti-infective therapy.\nHer temperature dropped to normal on the fourth day of hospitalization, but fever recurred between days 12 and 17 (peaking at 38.5 C) post-admission. No fever was observed from day 18 onward. She had less difficulty breathing and coughed less frequently. On her 18th day of hospitalization, a second flexible bronchoscopy was performed. Compared to the previous examination, there was a reduction in her left lumen secretions and the proliferative granulation tissue was clearly absorbed she was discharged on the 27th day of hospitalization and continued oral antibiotics for 2 weeks after discharge. A repeat CT performed after 2 weeks of discharge showed improvement in infectious changes in the left lung with pulmonary consolidation, atelectasis, bronchiectasis of the left lung, and cystic changes (Figure 4). She had no cough, fever, or any other clinical manifestations. We will continue to follow-up the patient for monitoring of cough, body temperature, dyspnea, exercise intolerance, chest CT changes, permissible lung function, and growth and development. The follow-up period will be further adjusted to ensure lung imaging recovery, lung function, and growth and development.",
"gender": "Female"
}
] |
PMC10311010
|
[
{
"age": 14,
"case_id": "PMC10267872_01",
"case_text": "The patient was a 14-year-old female Chinese semi-professional tennis athlete. She first developed mild right shoulder pain after a forehand tennis stroke with left trunk rotation in practice which disappeared after two days of resting. The second injury occurred five days later with the same mechanism of injury and resulted in 8/10 pain with immediate loss of upper extremity function. An x-ray and Magnetic Resonance Images (MRI) of the patient's shoulder were ordered by her primary care physician. The imagines ruled out epiphyseal plate, ligamentous, or labral damage, but showed a supraspinatus muscle strain. The patient self-referred to our team for TH due to the limited access to local sports-medicine resources. Oral consent was obtained from her guardian. During TH history taking, the patient complained of weakness with shoulder flexion, abduction, and external rotation (ER), as well as kinesiophobia. These combined physical and psychological limitations negatively impacted the patient's activities of daily living (ADL) and tennis. (Details in Table 1).\nAfter collecting patient history, the clinicians conducted a 30-minute virtual training session with the patient's guardian to teach hand placements, resistance strength, force angle for manual muscle testing (MMT), and special tests. For range of motion (ROM) measurements, the clinicians screenshot the patient's shoulder active ROM (AROM), then measured the angles through a smartphone 2-Dimensional application (Angle Meter 360) after the assessment (Figure 1). For strength tests, modified MMT (partner-assisted MMT) was used. Instead of having the tester grade on a 0 to 5 scale, the patient reported a percentage of effort by answering the question: \"Compared to your uninvolved side, how many percent were you able to resist on the last repetition?\" Special tests cluster (Painful Arc, Drop-arm test, Infraspinatus test, and Hawkins-Kennedy) were performed by the guardian and showed positive signs. (Detailed testing results can be found in Table 1).",
"gender": "Female"
}
] |
PMC10267872
|
[
{
"age": 0,
"case_id": "PMC3245497_01",
"case_text": "A 3-day-old female newborn was transferred to our hospital due to suspected neonatal sepsis and presence of a small omphalocele. She was born at term by spontaneous vaginal delivery. We learned that she had undergone transient tachypnea as well as upper gastrointestinal bleeding and hypotension after birth. On admission, physical examination revealed mild tachypnea, an omphalocele, and multiple erythematous skin lesions. Her skin lesions were located on the back, shoulders, the lateral surfaces of the arms, and on the anterior medial side of the right thigh. Laboratory investigations, including complete blood count, serum calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), blood urea nitrogen, creatinine, electrolytes, blood sugar, aspartate transaminase, alanine transaminase, acid-base values, and C-reactive protein levels as well as urinalysis were all normal. Antibiotic therapy was initiated because infection could not be ruled out and terminated after three days when blood cultures were reported to be sterile. The patient's tachypnea resolved on oxygen therapy within 24 hours and the omphalocele was corrected surgically on the fifth day of admission. On the first week of admission, the skin lesions transformed into red-purple, firm and painful subcutaneous nodules (Figure 1). These findings were consistent with the early lesions of fat necrosis of the newborn, and a skin biopsy was performed. Pathological examination of the biopsy material obtained from the lesion border revealed a small number of lymphocytes and focal inflammatory areas consisting of histiocytes (Figure 2a). Additionally, there were radial eosinophilic crystals in the fat cells (Figure 2b). Based on these findings, the patient was diagnosed as ScFN. Spontaneous improvement was observed in the lesions during the first two weeks following the diagnosis. The baby's parents were informed about the risk of hypercalcemia and its signs and symptoms. The patient was discharged on the 15th day of admission. Vitamin-D prophylaxis was not initiated. The lesions progressively disappeared over the following four weeks without any complication. Serum Ca and P levels were monitored twice per month after discharge. Serum Ca, P, ALP, and parathyroid hormone (PTH) levels during admission and follow-up were all within normal ranges and are given in Table 1. A slight increase was noted in serum Ca levels during the follow-up period. The patient was breast-fed throughout the follow-up period.",
"gender": "Female"
}
] |
PMC3245497
|
[
{
"age": 15,
"case_id": "PMC4322405_01",
"case_text": "A 15-year-old girl weighing 32 kg presented to us with effort intolerance and significant central cyanosis. Her oxygen saturations were 78%. There was pulmonary oligemia and normal-sized heart on the chest X-ray. Electrocardiogram showed sinus rhythm, right axis deviation, and RV hypertrophy. Her echocardiogram showed a 11-mm anterior muscular VSD shunting right to left, with severe valvar pulmonic stenosis (PS). On cardiac catheterization, the RV systolic pressures were 40 mmHg more than aortic pressures. The pulmonary artery (PA) pressures were normal and the valvar gradient across the pulmonary valve was 120 mmHg. Right ventriculogram showed thickened and doming pulmonary valve; infundibulum showed dynamic systolic infundibular clamping, but opened well in diastole [Figure 1 and Video 1]. Left ventriculogram revealed a moderate sized mid muscular VSD.\nAfter ensuring adequate intravascular volume status as shown by right atrial mean pressures of 12 mmHg, an initial BPV with 20-mm Tyshak II balloon (Numed Inc, Hopkinton, NY) resulted in excessive pulmonary flows, mild pulmonary hypertension, reduction of RV systolic pressures to 20 mmHg below the systemic pressures, and normalization of oxygen saturations to 100%. The subvalvar gradient was 60 mmHg and infundibulum opened well in diastole. The VSD was closed with a 14-12 Amplatzer Duct Occluder (StJude Medical, St Paul, MN) from the right ventricle after establishing an arteriovenous circuit [Figure 2 and Video 2]. After release, the RV pressure increased transiently due to dynamic infundibular hyper-contractility and the retention skirt of the device partially protruded into the left ventricle [Figure 3 and Video 3]. The device was snared out from the left ventricle before embolization. The device was replaced with an 18-mm muscular VSD occluder (HeartR, Lifetech Scientific, Shenzhen, PRC) [Figure 4 and Video 4]. Even though device appeared tilted towards the left ventricle on left ventriculogram, right ventriculogram showed correct device orientation [Figure 5 and Video 5]. On the following day, few ventricular ectopics were noted on routine examination and echocardiogram showed embolization of the device to the left ventricular outflow tract (LVOT). The large size of the device did not permit movement of the device beyond the aortic annulus. A snare catheter advanced into the LVOT to retrieve the device. There was transient heart block needing temporary RV pacing [Figure 6 and Video 6]. The device was subsequently snared into the abdominal aorta, but the screw end was facing superiorly. The profile of the device could be made smaller if the device could be slenderized by re-screwing the delivery cable to the device. It is important to slenderize the device to its smallest profile so that it could be removed through the smallest feasible arterial sheath. Through a 6 French left brachial artery access, a 6 French multipurpose guiding catheter was advanced into the abdominal aorta. This catheter allowed passage of a delivery cable of Amplatzer duct occluder I device. The large device was slenderized by re-screwing this cable [Figure 7 and Video 7]. The non-screw end of the left ventricular retention skirt of the device was snared with a small 5-mm Amplatz GooseNeck Snare (ev3 Inc, Plymouth, MN) and the device successfully withdrawn through a 9F femoral arterial sheath. She developed progressive hypotension in the intensive care unit in the subsequent few hours, which warranted initiation of inotropic support with dopamine, dobutamine, and adrenaline. Intravenous fluids were not given despite hypotension due to the concern of excessive pulmonary blood flows through the VSD. The hypotension progressively worsened inspite of escalating inotropes; there was progressive severe hypoxia due to right to left shunt across the VSD despite ventilation with 100% oxygen, metabolic acidosis, and progressive anemia. While examining for causes of low hemoglobin levels of 6 g/dl, a large right iliac retroperitoneal hematoma was recognized. The dangerous combination of inotrope-induced hypercontractile RV infundibulum, severe intravascular volume depletion, and poor oxygen carrying capacity due to anemia triggered a severe \"hypercyanotic spell\". This was recognized on echocardiogram by under-filled hypercontractile ventricles and collapsed inferior vena cava. Blood transfusion, intensive hydration, infusions of phenylephrine, and complete withdrawal of other sympathomimetics aided immediate recovery within few minutes. The retroperitoneal contained bleed was managed conservatively. One month later, transjugular device closure of the VSD was done with a 20-mm muscular VSD device (HeartR, Lifetech Scientific, Shenzhen, PRC) after establishing arterio-venous circuit. During the previous attempts of device delivery through femoral access, the alignment of the device was never proper in relation to the plane of the ventricular septum. Inspite of a better alignment of the sheath with the septum through the jugular route compared with the previous femoral attempts, the device developed cobra deformity and slipped repeatedly into the RV. The VSD device was reintroduced and the tip of left ventricular disk was protruded out and the delivery sheath placed in the ascending aorta. The tip of the left ventricular retention skirt was caught with a 5-mm Gooseneck Snare (ev3 Inc, Plymouth, MN) passed from femoral arterial access. This maneuver allowed holding the RV end of the device with the screw to the cable and left ventricular end of the device with the snare. This stabilization of the device from both ends permitted successful deployment [Figure 8 and Video 8]. At her last follow-up after 14 months, she is asymptomatic with no residual VSD and infundibular gradient of 20 mmHg.",
"gender": "Female"
}
] |
PMC4322405
|
[
{
"age": 36,
"case_id": "PMC2738533_01",
"case_text": "In September 1998, a 36-year-old male soldier in the French Foreign Legion with hemoptysis was sent back to France from Djibouti. He expectorated bloody sputum after running and on a few other occasions. His medical history was not unusual. When the patient was hospitalized, 2 weeks after the initial symptoms, he began to experience progressive fatigue. He did not experience fever, weight loss, night sweats, anorexia, cough, dyspnea, or chest pain, and did not produce sputum.\nResults of the clinical examination were normal. The Mantoux test, performed with 10 IU of purified tuberculin (Aventis-Pasteur-MSD, Lyon, France), yielded a maximum transverse diameter of induration of 15 mm. Laboratory values were normal (Table). The chest X-ray showed a triangular consolidation of the left upper lobe with blurred limits and small cavitary lesions. No other contiguous mediastinohilar anomalies were visible. A computed tomographic scan confirmed the cavitary syndrome: three excavated nodular images showed radiating spicules within a micronodular infiltrate. Bronchoscopy showed a moderate inflammation of airway mucosa, especially in the left upper lobe. Biopsy specimens exhibited nonspecific inflammation.\nA bronchial washing smear from the left upper lobe was positive for acid-fast bacilli. Serologic tests for HIV-1 and HIV-2 were negative. No evidence of disease was found elsewhere; the patient did not experience bone pain. Results of neurologic and ophthalmologic examinations were normal; no lymphadenopathy or hepatosplenomegaly were found and the genitalia were normal. Auscultation revealed no pericardial fremitus; no ascitic fluid was detected. The urinary sediment contained <1,000 red blood cells/L and <5,000 leukocytes/L. Antituberculosis chemotherapy was begun with four drugs: rifampicin, isoniazid, ethambutol, and pyrazinamide. Cultures revealed a strain identified as M. tuberculosis subsp. canetti that was susceptible to all primary antituberculous drugs. Therefore, rifampicin and isoniazid were continued for 3 more months for a total treatment period of 6 months. The patient's response to treatment was favorable, and he remained asymptomatic.",
"gender": "Male"
},
{
"age": 55,
"case_id": "PMC2738533_02",
"case_text": "A 55-year-old male soldier in the French Foreign Legion, who returned from Djibouti, was hospitalized in September 1999 after his chest x-ray showed abnormal findings. He was a nurse and had been occasionally in charge at the Djibouti Hospital for 2 years. His medical history was unremarkable. Eight months before he returned to France, he experienced asthenia, anorexia, and a weight loss of 3 kg. The symptoms resolved spontaneously after 2 months, and he had been asymptomatic since then. He had no history of cough, sputum production, hemoptysis, dyspnea, fever, or night sweats.\nResults of a clinical examination and of laboratory studies were normal (Table), except for hypereosinophilia. Serologic tests for schistosomiasis, hydatidosis, distomiasis, amebiasis, toxocariasis, and trichinosis were negative, and parasites were not found in stool samples. Thoracic radiographs performed when he came back from Djibouti showed parenchymal consolidation of the right upper lobe with small cavities. Sputum was not produced. A gastric aspirate smear was negative for acid-fast bacilli, and a bronchial aspiration smear was positive for acid-fast bacilli. HIV serology was negative, and no other site of the infection was found. Drug therapy was initiated with rifampicin, isoniazid, ethambutol, and pyrazinamide for 2 months. Cultures of bronchial aspirates were positive within 14 days; later, cultures of two gastric aspirates were positive for acid-fast bacilli. An M. tuberculosis subsp. canetti isolate was identified, which was susceptible to all primary antituberculous drugs. The treatment was then extended for 4 months with rifampicin and isoniazid. The patient's response to treatment was favorable.\nThe following methods were used to identify the etiologic agent. First, the samples were decontaminated with N-acetyl-L-cysteine/NaOH. Acid-fast bacilli were detected by auramine staining, the positive smears also were stained with Ziehl-Nielsen stain. The samples were then seeded onto Lowenstein-Jensen and Coletsos slants and also into a liquid system, the BBL Mycobacterial Growth Indicator Tube (MGIT, BD Diagnostic Systems, Sparks, MD).\nThe mycobacteria were identified by using a specific DNA probe (Gen-Probe, Gen-Probe Incorporated, San Diego, CA) and by performing the usual biochemical tests (nitrate reduction, 68 C catalase resistance, niacin production).\nThe Pasteur Institute of Paris used two methods for typing: restriction fragment length polymorphism (RFLP) analysis and spoligotyping. In RFLP analysis, after digestion of the M. tuberculosis strain's genomic DNA with PvuII restriction enzyme and agarose gel migration, the DNA was transferred on a membrane, according to the Southern method, and then hybridized with an insertion sequence IS6110 probe. In the spoligotyping method, after DNA direct repeat amplification, the labeled polymerase chain reaction product was used as a probe to hybridize with 43 synthetic spacer oligonucleotides (DNA sequences derived from the direct repeat [DR] region of M. tuberculosis, H37Rv and M. bovis BCG P3), which were attached to a carrier membrane. The sensitivity to antituberculous drugs was determined by the indirect proportion method.\nMGIT results were positive for the two cultures in 9 and 12 days, respectively. On Lowenstein-Jensen slants, the cultures were positive in 12 and 14 days, respectively. The white, smooth, and glossy colonies were characteristic of M. tuberculosis subsp. canetti (Figure 1). The two strains had the same phenotypic and genotypic pattern; 68 C catalase was negative, and they reduced nitrate, as do other M. tuberculosis species, but they did not produce niacin. The DNA probe, Gen-Probe, confirmed that these strains belonged to the M. tuberculosis complex.\nThese strains contained two copies of IS6110. Spoligotyping showed that they shared only 2 of the 43 oligonucleotides reproducing the spacer DNA sequences of M. tuberculosis, H37Rv and M. bovis BCG P3. This profile is characteristic of M. tuberculosis subsp. canetti (Figure 2).",
"gender": "Male"
}
] |
PMC2738533
|
[
{
"age": null,
"case_id": "PMC7332718_01",
"case_text": "All patients included in this review (Table 1 (Tab. 1)) had suffered ocular trauma with globe rupture, iris disinsertion, and traumatic cataract (Figure 1 (Fig. 1)). Mean age was 54.5 years (min. 45, max. 63), with three men and one woman included in this case series. There were no known previous ophthalmological problems. Visual acuity in the preoperative period was hand motion or less in all patients.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC7332718_02",
"case_text": "25-gauge pars plana vitrectomy was done in all patients. Patient 2 also had phacoemulsification done for partial spontaneous cataract resorption. In all cases, a previously measured and cut CustomFlex ArtificialIris prosthesis (Human Optics) and an Akreos IOL (Bausch&Lomb) was folded and dialed into place in the ciliary sulcus, through the superior 3.75 mm limbal-based corneal wound. The IOL was sutured to the mesh on the posterior face of the artificial iris with 10-0 polypropylene sutures, first anteriorly to posteriorly and then posteriorly to anteriorly through the IOL eyelets (Figure 2 (Fig. 2), Figure 3 (Fig. 3)). \nThe Akreos IOL-ArtificialIris complex was fixed and centered to que sclera, using two equidistant 7-0 CV-8 Gore-Tex sutures. The sutures were trimmed, rotated, and buried, only covered by conjunctiva.\nThe corneal wound was then closed using a 10-0 nylon suture,,,.",
"gender": "Unknown"
}
] |
PMC7332718
|
[
{
"age": 16,
"case_id": "PMC4664626_01",
"case_text": "Sixteen-year-old male patient from Burkina Faso presented to emergency department of Al-Noor Specialist Hospital, which is a Joint Commission International (JCI) accredited, tertiary care hospital in the Holy city of Makkah, Saudi Arabia. The patient presented with a history of fever; and recurrent convulsions, followed by a decreased level of consciousness.\nA week before the presentation the patient had nasal polypectomy and sinus surgery in a private hospital. Two days post-surgery the patient developed headache with high-grade fever that did not respond to antibiotics. Headache became progressively worse and the patient started experiencing episodes of fits and loss of consciousness.\nAssessment of vital signs on presentation revealed a temperature of 37 C, pulse of 112 beats per minute, and blood pressure of 121/97 mmHg. The physical examination revealed no meningeal signs, pupils were normal and reactive, and there was normal muscles tone. Glasgow Coma Scale was 6 (E1 M4 V1), so the patient was intubated and mechanical ventilation was initiated.\nLaboratory testing revealed a leukocyte count of 10,380 cells per cubic millimeter, with 76.5% polymorphonuclear cells. ESR was 42 mm/h and CRP 7.97 mg/dl. The comprehensive metabolic panel; including liver-function tests, was within normal limits (Table 1). Analysis of the cerebrospinal fluid revealed an elevated protein level of 120 mg/dl (reference range, 15-45), low glucose concentration of 38 mg/dl (reference range of 40-70 mg/dl). Gram stain of CSF showed no bacteria, but white blood cells were increased at 4200 white cells/mul; 90% polymorphonuclear cells.\nComputed tomography (CT) of the head showed dilatation of supra and infratentorial ventricular system with hydrocephalic changes. CT scan also suggested possible fungal sinusitis of ethmoid, sphenoid, and maxillary sinuses. Other findings were not remarkable and showed normal attenuation of cerebral cortex and white matter, no intra or extra-axial hemorrhage and normal posterior fossa structures (Figure 1). CT of the chest showed left lower lobe consolidation with right upper lobe linear atelectasis and mild ground glass density patches. Mediastinal vascular structures were normal with no lymph node enlargement, no pleural effusion, and normal chest wall.\nThe patient was started on intravenous vancomycin, ceftriaxone, acyclovir, metronidazole, clindamycin, and glucocorticoids.\nRoutine bacterial cultures of the blood and cerebrospinal fluid were negative, and microscopic examination of CSF revealed acute inflammatory cells (neutrophil leucocytes) and few admixed histocytes with conclusion of pyogenic meningitis.\nOn hospital day 3 the patient had signs of brain stem death in the form of dilated fixed unreactive pupils, loss of corneal and conjunctival reflexes and loss of gag reflexes. Brain death was confirmed twice clinically by neurology department with an interval of 24 h. Electroencephalography (EEG) was advised as proof of brain stem death by electrophysiological studies.\nOn hospital day 4, the patient showed abrupt elevation of blood glucose, urea, creatinine, and liver enzymes. EEG was done using brain death standard technique for 30 min and revealed severe cerebral dysfunction. Patient was continued on mechanical ventilation, but his blood pressure started to decrease. The patient immediately received Alpha/Beta agonists in an attempt to maintain his blood pressure at acceptable levels.\nOn hospital day 5, the microbiology laboratory reported a filamentous fungus growth in the CSF specimen, which was initially negative for bacteria. This positive CSF specimen was collected on the first day of admission. The filamentous fungus was later identified as Aspergillus species and the culture was sent to a reference mycology laboratory for species identification. Liposomal Amphotericin B and voriconazole were started on the same day, but patient continued to deteriorate. The patient died on hospital day 7 due to sudden cardiac arrest associated with severe meningioencephalitis, renal impairment, and septic shock.\nThe CSF specimen was cultured in BACTEC FX blood culture bottles and incubated using BACTEC FX system. Three days after initial incubation, a positive culture signal was noted and fungal ball was noted inside the culture bottle. The fungal ball was directly inoculated onto blood, chocolate and Sabouraud's dextrose agar plates and incubated at 30 C. Filamentous fungal growth was obtained within 48 h and identification attempts were made by means of macroscopic and microscopic examination of the culture. Parallel CSF culture was performed according to standard procedure and all results were negative.\nThe CSF filamentous fungus isolate was identified as Aspergillus species by microscopic examination showing characteristic Aspergillus fruiting heads. For species determination Sabouraud's dextrose agar plate was sent to the Microbiology Research Laboratory, Department of Microbiology, College of Medicine, Umm Al-Qura University.\nWashed fungal mycelium was used to isolate genomic DNA. A library for ITS metagenomics DNA sequencing was prepared using the Illumina Metagenomics Protocol and sequenced in Illumina MiSeq using version-2 500 cycles Nano kit. Species identification was determined using the Pairwise Sequence Alignment tool, (ISHAM ITS database http://its.mycologylab.org/). Sequence similarity equal to or greater than 97% was used as cutoff for species identification. Alignment of assembled ITS sequences showed high degree of similarity (above 99.7%) to A. terreus ITS reference sequences.",
"gender": "Male"
}
] |
PMC4664626
|
[
{
"age": 61,
"case_id": "PMC6554484_01",
"case_text": "A 61-year-old woman visited the Hino Municipal Hospital complaining of palpitation, which disappeared soon after her visit. Incidentally, on an X-ray examination, a lung nodule on the right side was pointed out to her, although there were not any related symptoms. A contrast-enhanced chest CT scan revealed a solitary and well-circumscribed nodule (36 x 37 x 40 mm in diameter) in the peripheral region of the right lower lobe (Fig. 1A). While a solid part of the tumor was homogeneously enhanced, the tumor included an irregular-shaped low-density area (19 mm in maximum diameter) that was free from contrast-enhancement (Fig. 1B). Lymph node enlargement or pleural effusion was absent. Her medical record showed that a small lung nodule was previously recognized on a CT scan in our hospital when she was 54 years old (Fig. 1C). A further CT scan had been scheduled, but she missed her follow-up. The initial CT scan when her was 54 years old showed a small nodule (7.5 x 7.9 x 8.7 mm in diameter) in the right lower lobe (Fig. 1C, an arrow mark), which corresponded with the grown tumor in the present study. The tumor doubling time was estimated to be 374 days. She had never smoked and was taking medicines for hypertension.\nThe patient was suspected of having a stage IB primary lung cancer after an evaluation of her whole body via contrast-enhanced CT and magnetic response imaging scans. A fluorodeoxyglucose (FDG)-positron emission tomography (PET) scan revealed a high maximum standardized uptake value (SUVmax) of 5.2 on the solid part of the lung nodule while a portion of intratumoral radiolucency did not show significant FDG uptake (Fig. 1D). Following this, a diagnostic CT-guided transcutaneous core needle biopsy was scheduled. The biopsy specimen obtained from the solid part of the tumor was composed of two major pathological patterns, a solid proliferation of round cells and papillary growth of type II pneumocyte-like cuboidal cells overlying a core comprised of round cells (Fig. 2A and B). Sclerotic and hemorrhagic patterns were also evident in minor regions (Fig. 2C and D). All of the four characteristic components necessary for a diagnosis of PSP were pathologically proven in a biopsy specimen.\nSince the tumor doubling time was relatively short in this case, she received a right lower lobectomy and a lymphadenectomy at the Federation of National Public Service Personnel Mutual Aid Associations, Tachikawa Hospital. An examination of the gross features of the fixed lung revealed an encapsulated tumor (30 x 35 x 35 mm in size) underneath the visceral pleura in the right lower lobe accompanying a cavitary space filled with bloody content (Fig. 3A and B). The cavity formation was pathologically attributed to a gross hematoma but not to the hemorrhagic cyst nor to tumor necrosis. The microscopic examination of a solid part of the resected tumor confirmed a diagnosis of PSP, predominantly showing a papillary growth pattern with a portion of solid and sclerotic patterns (Fig. 3C). Immune-staining was positive for cytokeratin 7 (Fig. 3D), thyroid transcription factor-1 (TTF-1) (Fig. 3E), and napsin A (Fig. 3F) on the papillary-growing type II pneumocyte-like cuboidal cells whereas solid-growing round cells were positive only for TTF-1 (Fig. 3E). Together, the immune staining patterns were consistent with those related to PSP. Lymph node metastasis was pathologically absent in the surgical specimens.",
"gender": "Female"
}
] |
PMC6554484
|
[
{
"age": 53,
"case_id": "PMC9241052_01",
"case_text": "A 53-year-old male with a clinical history of nephrolithiasis came to the outside hospital emergency room (ER) with severe pain in the low back, right hip, and thigh, intermittent fever with chills and night sweats, minimally productive intermittent cough spells with whitish phlegm, exertional dyspnea, generalized fatigue for three weeks along with weight loss of 20 pounds in one month. Six days prior, he was seen at the ER for back pain radiating to the right leg for the last two weeks, and x-rays of the right knee and hip with pelvis were within normal limits. He was discharged home with oral prednisone 40 mg daily for five days and as needed diazepam. He was a farmworker, had quit smoking a month back with 30 pack-years of smoking, and was negative for substance and alcohol abuse. He was sexually active with his girlfriend and resided in a trailer. Clinical examination revealed stable vital signs, lack of sensation over the right anterolateral thigh with no point tenderness, painful hip movements with limited motion, and difficulty walking. Labs revealed leukocytosis, thrombocytosis, hypoalbuminemia, and elevated inflammatory markers (Table 1). He received intravenous (IV) ketorolac 30 milligrams (mg) followed by hydromorphone 0.5 mg 1 dose IV, ondansetron 4 mg IV, and oral diazepam 2 mg. Contrasted computed tomography (CT) of the chest, abdomen, and pelvis revealed right upper lobe (RUL) heterogeneous enhancing mass and scattered bilateral nodules < 6 millimeters (Fig. 1), right iliac diffuse permeative appearance, extensive complex septated acute collections within the right iliopsoas region, deep right gluteal region and the right paraspinal musculature from the L4 - S2 levels. Magnetic resonance imaging (MRI) of the pelvis and lumbar spine with and without contrast revealed a large multilobulated cystic mass centered around the right iliac bone with extension medially into portions of the iliopsoas muscle, laterally into the adjacent gluteal musculature, and posterosuperiorly into the posterior paraspinal musculature (Fig. 2). He was admitted and initiated on pain control, IV fluids, and evaluated by the oncology and orthopedics team, who recommended a biopsy or transfer to a tertiary center. On day two, he was febrile at 39.2 Celsius (C) and ordered blood cultures returned negative, whereas procalcitonin and lactic acid were elevated (Table 1). Empirical IV ceftriaxone and azithromycin were started for suspected right upper lobe pneumonia, and his lactic acid improved. Over the next three days, antibiotics were continued, and on day six, he was transferred to our institution for suspected primary bone malignancy with metastasis.\nOn arrival, clinical examination revealed fever (39 C), mild improvement of the right hip movements, and poor oral hygiene. Labs revealed leukocytosis, thrombocytosis, and two sets of blood cultures returned negative (Table 2). IV antibiotics were changed to vancomycin and piperacillin-tazobactam. He then underwent an interventional radiology-guided biopsy of the right ilium and aspiration of 20 mL purulent fluid from the right gluteal mass as recommended by the orthopedic oncology team. He remained intermittently febrile over the next two days, which gradually subsided with his right hip pain improvement. The bone biopsy revealed extensive acute and chronic inflammation with focal granulomatous change and no malignancy. The aspirated purulent fluid showed extensive necroinflammation, bacterial colonies most consistent with Actinomyces (Fig. 3) and no malignant cells. Right pelvic fluid histopath revealed the Splendore-Hoeppli phenomenon (sulfur granules and associated inflammation) (Fig. 4). The infectious disease (ID) team recommended continuing the piperacillin-tazobactam and stopping the vancomycin. Inflammatory markers were still elevated, whereas Quantiferon Gold Tuberculosis testing and serology for human immunodeficiency virus were negative (Table 2). A repeat contrasted CT scan of the chest, abdomen, and pelvis confirmed the prior pulmonary findings, whereas, in the pelvis, there was an interval increase in the size of the complex cystic mass indicative of abscess formation. He then underwent irrigation and debridement of the right hemipelvis and an open right ilium biopsy. Right ilium biopsy returned positive for acute and chronic osteomyelitis and negative for cancer. The right pelvic mass biopsy revealed fibrovascular tissue with acute and chronic inflammation, necrosis, hemorrhage, fibrosis, and negative for malignancy. Intraoperative tissue bacterial, mycobacterial and fungal cultures were negative. The pulmonary team performed the bronchoscopy and obtained an RUL protective specimen brush culture sample, bronchioalveolar lavage (BAL) for analysis, culture, and endemic fungal workup. Endobronchial ultrasound (EBUS) guided fine-needle aspiration on enlarged lymph nodes (stations 11 L,7, and 4 R) returned negative for infection and malignancy. BAL fluid analysis did not suggest any infection; however, the cultures returned positive for A. odontolyticus (Table 2). A. odontolyticus was sensitive to penicillin and resistant to clindamycin. Piperacillin-tazobactam was changed to ceftriaxone 2 g (gm) daily.\nAn oral dental surgeon evaluated his bad oral hygiene (Fig. 4). A transthoracic echocardiogram displayed an ejection fraction of 60% with normal cardiac valves and normal left and right ventricular systolic function. An X-ray Panorex revealed several missing teeth, multilevel caries, significant maxillary and mandibular lamina propria resorption, periapical lucency involving the remaining right maxillary molar, and possible retention cyst/opacification of the left maxillary sinus. He was recommended outpatient follow-up in three weeks to fix his bad teeth. A repeat MRI pelvis with contrast revealed a marked interval decrease in size of the complex multiloculated abscess involving the right retroperitoneum, gluteal muscles, and right paraspinal muscles, abnormal marrow signal, and osseous erosion of the right ilium. He was discharged home on IV ceftriaxone 2 gm daily to complete six weeks of antimicrobial therapy. Four weeks later, he followed up at the ID clinic with a decline in inflammatory markers (Table 2), and he was transitioned to oral amoxicillin 875 mg thrice a day for the next 12 months. Repeat CT chest with contrast at eight weeks post-discharge revealed resolving right upper lobe consolidation with residual linear opacities. A repeat MRI pelvis with and without contrast 12 weeks after discharge revealed markedly improved osteitis of the right innominate bone, surrounding soft tissue infection, and minimal persistent marrow changes within the right iliac bone. At the ninth-month ID clinic follow-up, he had his teeth fixed, recovered weight loss, and resumed daily activities. He completed 12 months of oral amoxicillin with complete recovery. (Fig. 5).",
"gender": "Male"
}
] |
PMC9241052
|
[
{
"age": 7,
"case_id": "PMC5437802_01",
"case_text": "A 7-year-old boy with a history of autism presented to a peripheral hospital complaining of headache and neck pain followed by visual disturbance. The ophthalmic examination documented a bilateral loss of visual acuity (2/10), fixed bilateral mydriasis and a Grade IV bilateral papilledema. The noncontrast-enhanced computed tomography (CT) scan of the head was unremarkable. The patient was transferred to the pediatric ward of our hospital with a provisional diagnosis of pseudotumor cerebri.\nThe patient underwent a magnetic resonance imaging (MRI) scan of the brain with Gadolinium which showed signs in keeping with longstanding raised ICP, including bilateral kinking of the optic nerves within the orbit, enlargement of subarachnoid spaces, flattening of the posterior sclera, and the empty sella sign [Figure 1b]. The same investigation documented a single, 16 mm, oval, T1 and T2 isointense, contrast-enhancing lesion arising in the right mastoid region, and narrowing the transverse-sigmoid sinus junction [Figure 2b].\nA cerebral angiography digital subtraction angiography documented the compression of the right transverse-sigmoid junction distal to the vein of Labbe, within a picture of mild right side dominance of the venous sinuses circulation in the posterior fossa [Figure 2a]. A diagnosis of raised ICP related to impaired cerebrospinal fluid (CSF) absorption was supposed, considering the intracranial venous hypertension due to the lesion compressing the sinus. We decided to proceed with the surgical removal of the lesion.\nThe tumor was approached through a right retrosigmoid incision. Intraoperatively, an osteolytic lesion was found on the asterion with a moderately bleeding core underneath, extending in the right mastoid. The lesion did not involve the dura and was indenting and stretching the right transverse sinus. We also considered the possibility to measure intraoperatively the hydrostatic pressure in the transverse sinus proximally to the lesion, but the potential risks related to a maneuver involving a puncture of the sinus outweighed the benefits. However, noticeably the previous proximal turgid sinus collapsed after the tumor excision.\nThe removal was macroscopically complete, with immediate evidence of sinus decompression. The histological examination was in keeping with a diagnosis of osteoblastoma [Figure 3].\nOn the postoperative time, a right mastoiditis occurred, which was successfully treated.\nThe postoperative course was characterized by a prompt resolution of a headache and a progressive improvement of the visual acuity over the following weeks. Indeed, a 4-week follow-up ophthalmic exam documented a visual acuity of 7/10 in the right eye and 4/10 in the left, associated with a complete resolution of the papilledema and some degree of residual left optic atrophy.\nA follow-up MRI after 4 months showed the normalization of the diameter of the right transverse-sigmoid junction [Figure 1a], and a significant regression of the signs of increased ICP [Figure 1c].",
"gender": "Male"
}
] |
PMC5437802
|
[
{
"age": null,
"case_id": "PMC5219627_01",
"case_text": "The patient was born by repeat Cesarean section at 37 weeks and 2 days, weighing 2960 g. There were no complications during the pregnancy or labor. Apgars were 7 and 9 at 1 and 5 minutes respectively. On day of life 1, the patient began having apneic episodes, which required intubation. By 12 days of life she continued experiencing episodes of apnea and hypercapnia and was diagnosed as having PHOX2B expansion of polyalanine repeats 20/27. Patient underwent tracheostomy at 13 weeks of life. In addition, she was diagnosed with Hirschsprungs disease and underwent a Soave pull through at 15 days of life as well as gastrostomy placement. After discharge from the NICU at 4 months of age, the patient was readmitted at 5 months of age for episodes of hypersomnolence followed by seizure-like episodes. Those episodes involved choking, desaturation to 80%, as well as staring off with arms and legs outstretched. The patient was found to have Enterococcus UTI and MDR Serratia macescens and Stenotrophomon tracheitis, both of which were treated with a 10 day course of levofloxacin. Six days into admission, the patient continued experiencing multiple episodes of hypersomnolence and she had another seizure-like episode with eye deviation to the left. Patient was on an EEG at that time and was found to have no epileptiform activity. It was discovered that the patient was consistently hypoglycemic with blood glucose as low as 30 mg/dl. Patient was started on continuous feeds and D10 1/4 NS at 5 cc/hr. In addition, patient was given diazoxide 10mg/kg times two doses for concern of hyperinsulinemia. While receiving diazoxide, the patient experienced another episode of hypoglycemia of 41 mg/dl, which was noted after holding feeds for only 10 minutes. At that time, diazoxide was discontinued. On abdominal US, the pancreas was found to be normal, and insulin levels, drawn during hypoglycemic episodes while on diazoxide and after its discontinuation, were found to be within normal limits at 0.6 uIU/ml and <0.5 uIU/ml. Patient was discharged home on continuous feeds with q6h glucose checks and glucagon to be used as needed. At home the hypoglycemia symptoms have been well controlled with continues feeds; however, if the feeds are interrupted for more than 15 minutes the serum glucose level decreases to less 30 mg/dl.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC5219627_02",
"case_text": "Several authors have reported cases of hypoglycemia in patients with known CCHS (Table 1). One case report noted a patient who was found to have episodes of hypoglycemia at 6 weeks of life. In addition, that patient was found to have hyperinsulinemia as a root cause of the hypoglycemia. At the time of their publication, there had only been one other report of hyperinsulinemia associated with CCHS. In that case report, a patient with severe CCHS was found to have hyperinsulinemia, which was controlled with diazoxide. Since the case report put forth by Hennewig et al., two subsequent publications have reported cases of hypoglycemia associated with hyperinsulinemia. In one case series, three patient presentations with first time seizures with associated hypoglycemia were noted. In one case, the patient's insulin level was normal. In one final case report put forward by Marics et al., another case of hyperinsulinemia was reported. However, that time the patient was noted to have hypoglycemia in routine screening at 14 days of life and avoided any seizure activity due to sustained hypoglycemia. Also of note, none of the previous case presentations reported associated Hirschsprungs disease.",
"gender": "Unknown"
}
] |
PMC5219627
|
[
{
"age": 58,
"case_id": "PMC3864171_01",
"case_text": "A 58-year-old Asian female patient was admitted due to neck pain, which occurred occasionally over the previous 2 years, with increasing severity in recent weeks. Moreover, the patient was experiencing difficulty swallowing. During physical examination, a significant mass could not be palpated in the upper left part of the neck, despite sensitivity during palpation. Atrophy and left deviation of the left half of the tongue was observed. Results of complete blood count and biochemical tests were within normal limits. In the neck MRI, a mildly hyperintense lesion was found, located superior to the carotid bifurcation between the left internal carotid artery (ICA) and external carotid artery (ECA) by T2-weighted images. This lesion was hypointense on T1-weighted images. Significant enhancement was present on post-contrast T1-weighted images. Moreover, there was atrophy in the left half of the tongue (Figure 1). The neck mass displaced the left ICA anteriorly and medially (Figure 2).\nThe operation was performed with left lateral cervical access. The cranial nerves were identified by isolating the upper neck arteries and veins. A mass lesion was found. The hypoglossal nerve was extending towards and entering the expanding mass. This lesion, derived from the hypoglossal nerve, was excised. Results of examination of the other cranial nerves were normal in the early postoperative period. Following histopathological evaluation, the lesion was diagnosed as paraganglioma (Figure 3). Six month postoperative follow up, left sided-tongue atrophy persisted, but the patient did not have difficulty in swallowing.",
"gender": "Female"
}
] |
PMC3864171
|
[
{
"age": 69,
"case_id": "PMC9503891_01",
"case_text": "A 69-year-old man with a history of heart failure and hypertension presented to the hospital with pulseless electrical activity cardiac arrest while undergoing a routine root canal dental procedure. The patient had a past medical history of congestive heart failure with reduced ejection fraction, hypertension, diabetes mellitus type 2, and hyperlipidemia. In addition, he had a past surgical history of intracardiac defibrillator along with no significant social history. He had no known drug allergies and takes losartan, carvedilol, furosemide, and atorvastatin on a daily basis. He was undergoing a root canal procedure at an outpatient dental office under local anesthesia. During the procedure, he was found to be unresponsive, which prompted the office to call emergency medical services. Subsequently, he was found to be in pulseless electrical activity, and cardiopulmonary resuscitation was initiated. He was resuscitated, and return of spontaneous circulation was achieved upon arrival to the emergency department. His total downtime was 25 minutes.\nElectrocardiogram showed sinus tachycardia with right bundle branch block (Figure 1). Computed tomography (CT) of the head demonstrated extensive free air within the maxillary bone, facial tissues, and neck veins, and a thoracic CT showed large amounts of air within the RV and portal venous system (Figures 2, 3, 4, 5). Echocardiogram revealed a left ventricular ejection fraction of 20% to 25%, with right ventricular dilation and reduced function. There were artifacts due to the presence of air in the RV. Initial blood work revealed a leukocyte count of 8,400 cells/muL, hemoglobin of 13.1 g/dL, and a platelet count of 78,000 cells/muL. Moreover, sodium level was 140 mmol/L, potassium 3.6/ mmol/L, magnesium 2.2/ mmol/L, and creatinine 1.23 mg/dL. Patient's troponin at point of arrival was 0.017 ng/mL (reference range 0.000-0.039) and N-terminal pro-brain natriuretic peptide was 107 pg/mL.\nThe patient was admitted to the ICU, and supportive care was initiated along with targeted temperature management and VAE-specific interventions, including left lateral decubitus head-down positioning, and high-FiO2 mechanical ventilation. Although VAE significantly improved, he did not have meaningful neurologic recovery and the decision was made to withdraw care.",
"gender": "Male"
}
] |
PMC9503891
|
[
{
"age": 28,
"case_id": "PMC2698061_01",
"case_text": "The patient was a 28-year-old woman who was admitted to hospital because of a hepatic mass found incidentally on screening sonography. She had no previous surgical and medical problems. A physical examination and the laboratory findings on admission revealed no abnormalities. The serum alpha-fetoprotein level was 1.2 ng/mL and the carcinoembryonic antigen level was 1.3 ng/mL. Test for the hepatitis-B antigen was negative and the test for hepatitis-B antibodies was positive.\nCT of the abdomen showed a mass in the segment 6 measuring approximately 4.0x3.8-cm with a capsular retraction. The hepatic helical CT scan during the hepatic arterial phase showed a heterogeneously enhancing mass with a lobulated margin. A central scar was shown as a stellate hypoattenuation. The hepatic helical CT scan during the portal phase showed an isodense mass with a hypodense central scar (Fig. 1A). These findings were compatible with the focal nodular hyperplasia except for a central scar extension to the hepatic capsule causing a retraction. The T1-weighted axial MR image of the liver demonstrated a slightly hypointense mass demarcated by a thin hypointense rim with a central hypointense scar. The T2-weighted axial MR image showed a slightly hyperintense mass with a hypointense central scar. The contrast-enhanced T1-weighted axial MR image revealed a marked enhancement of the tumor with a nonenhancing central scar (Fig. 1B).\nSegment 6 of the liver was resected. The gross specimen showed a nodular configuration with a dense fibrotic central scar. On the cut surface, a central dense fibrotic scar with radiating fibrous septa dividing the lesion into smaller nodules was noted (Fig. 1C). The central scar extended to the surface, and the surface of the liver parenchyma adjacent to the mass was retracted. The capsular retraction of the liver surface was attributed to the collagenous scar. The resected specimen showed a depressed thickened stellate scar, slightly eccentrically positioned, with tapering fibrous septa, which radiated through the mass, dividing it into multiple lobules. The patient took an uneventful postoperative course and was discharged.",
"gender": "Female"
}
] |
PMC2698061
|
[
{
"age": 4,
"case_id": "PMC7534522_01",
"case_text": "A four-year-old female patient was admitted to our outpatient clinic due to short stature. She was born to non-consanguineous parents via elective cesarean section at 38 wk of gestation following an uncomplicated pregnancy, with a birth weight of 3,390 g. In early infancy, she suffered from feeding difficulties, hypotonia, gastrointestinal reflux, and failure to thrive with no history of hypoglycemia. A gastrostomy tube was required for feeding. At 10 mo of age, a molecular test was performed due to developmental delay and dysmorphic facial features such as epicanthal folds, a short nose with a flat-depressed nasal bridge and anteverted nares, and posteriorly rotated low-set ears with large lobes. A whole exome sequence analysis was performed at the Center for Human Genetics (Centrum Menselijke Erfelijkheid, CME) at the Gasthuisberg campus of UZ Leuven in Belgium. A heterozygous mutation, c.34G> A (p.Gly12Ser), in exon 2 of the HRAS gene was revealed, which is the most common mutation responsible for CS. A definitive diagnosis of CS was hence achieved.\nAt first evaluation at 4.2 yr of age, the patient's height was 88.7 cm (-3.49 SD) and her weight was 12.38 kg (-2.29 SD). The mid-parental height was 164 cm, corresponding to 0.15 SD (her mother's height was 159 cm, and her father was 182 cm). On physical examination, characteristic phenotypic features of CS were noted: coarse face, prominent forehead, epicanthal folds, down-slanting palpebral fissures, curly hair, broad and short nose, posteriorly rotated ears with thickened lobes and helices, full cheeks, high arched palate, full lips with large mouth, short neck, as well as dark, loose and soft skinned hands and feet with wrinkling-hypoplastic nails. A gastrostomy scar was noticed. Laboratory tests showed normal hemogram and biochemical parameters, including liver and kidney function, blood glucose, thyroid function, tissue transglutaminase autoantibody Ig A, and serum total Ig A level. Her urine analysis was normal. GH stimulation tests with L-dopa and glucagon revealed low basal GH levels and reduced GH response (peak GH of 1.51 ng/ml and 0.95 ng/ml, respectively) with low IGF1 levels (11.3 ng/ml, -2.39 SD). Her bone age was 2 yr and 6 mo. Magnetic resonance imaging of the cranium and hypophysis was normal. These findings were compatible with GH deficiency. Long term risks and benefits of medical treatment were discussed with the parents, and initiation of medical treatment was decided upon.",
"gender": "Female"
},
{
"age": 58,
"case_id": "PMC7534522_02",
"case_text": "rhGH treatment was initiated at 0.2 mg/kg/wk, which was the standard dose at the age of 4.2 yr. The patient responded with significantly improved linear growth, growing 9.5 cm/yr in the first year of treatment. She continued to grow at 6.8 cm/yr, 6 cm/yr, and 7 cm/yr in the next three years, respectively. In the fifth year of the treatment, her growth velocity slowed down to 5.52 cm/yr, and rhGH treatment was increased to 0.23 mg/kg/wk at the age of 9.58 yr. Bone age was 8 yr and 10 mo. Onset of left breast development was realized at 9.58 yr old with no signs of pubarche (Table 1).\nThe patient was followed-up every three months of treatment for evaluation of growth velocity, response to the treatment, and side effects. Her bone age progression was evaluated annually. Her IGF-1 levels were maintained in the normal range for the age, gender, and pubertal stage. No pathological laboratory results were obtained. Due to concerns of potential cardiac and neoplastic effects of CS, regular monitoring with electrocardiogram, echocardiography, and abdominal and pelvic ultrasonography was done. The plasma concentrations of metanephrine and normetanephrine were assessed every 3-6 mo. No pathological ultrasonographic findings were observed. The repeated echocardiogram was normal with no evidence of hypertrophic cardiomyopathy. At the age of 9.5 yr, mild tricuspid and mitral regurgitation with normal cardiac function were documented (Table 1).\nOver five years of rhGH treatment, no adverse effects have been observed. While total height gain was 36.3 cm; total change in height SD (DeltaHSD) was +1.86 at the end of the five-year treatment course, with significantly increased linear growth of +1.02 DeltaHSD during the first year of rhGH therapy, and +0.31 DeltaHSD, +0.09 DeltaHSD, +0.45 DeltaHSD, and -0.01 DeltaHSD in the next four years, respectively. Her current height has reached above the 3rd percentile. In growth monitoring, height and weight of the patient are plotted on charts for both CS and healthy national children (Figs. 1 and 2). She is still on daily rhGH injections. She has attended kindergarten and primary school and receives moderate grades.\nInformed consent was obtained from all individuals included in this case presentation.",
"gender": "Female"
}
] |
PMC7534522
|
[
{
"age": 71,
"case_id": "PMC3420684_01",
"case_text": "A 71-year-old African American woman presented with a one-week history of lower extremity and facial swelling, nausea, vomiting, and diarrhea. On admission, she was noted to have hypotension (systolic blood pressure 70 mmHg), acute renal failure (blood urea nitrogen 51 mg/dL and serum creatinine 4.99 mg/dL), and hypoalbuminemia (albumin 3 mg/dL). She required fluid and vasopressor resuscitation. Empiric treatment with broad-spectrum antibiotics was started. By hospital day 14, she developed anasarca, 60 pound weight gain, and required additional vasopressor support and continuous veno-venous hemodialysis (CVVH). Evaluations revealed negative or normal blood and urine cultures, quantitative immunoglobulins; serum protein electrophoresis and immunofixation studies, antinuclear antibody, antineutrophil cytoplasmic antibody, anti-double-stranded DNA levels; erythrocyte sedimentation rate. Urine sodium was less than 25 mmol/L, and urine creatinine was 205 mg/dL. She demonstrated adequate response to cosyntropin. Transthoracic echocardiography and right heart catheterization revealed normal left ventricular ejection fraction, normal pulmonary artery wedge pressure, and no pulmonary hypertension. Computed tomography (CT) revealed left inguinal and retroperitoneal lymphadenopathy (largest node measuring 2.2 cm). Positron emission tomography showed hypermetabolic activity of left pelvic lymph nodes.\n Histopathology from core-needle biopsy of the left inguinal lymphadenopathy showed an abnormal infiltrate of relatively cohesive clusters of large pleomorphic cells with morphologic features summarized in Figure 1. Limited flow cytometric analysis was performed and demonstrated the presence of an abnormal population of large T cells with slightly dimmed expression of surface CD3 and CD2 in comparison to the normal small T lymphocytes. These cells showed bright expression of CD45, CD4, CD5 with no expression of CD7, CD8, CD19, CD20, CD10, kappa or lambda surface light chain. DNA analysis by DRAQ5 showed a relatively high tumor-specific S-phase fraction (12.7%).\n Immunohistochemical studies showed strong membranous and perinuclear \"Golgi\" expression of CD30 in nearly all neoplastic cells, which were also ALK (-), CD4 (+), CD8 (-), UCHL1 (+), CD43 (+), EMA (-), TdT (-), cytokeratin AE1/AE3 (-), and S-100 (-). There was frequent labeling of nuclei by Ki-67 (in some areas >90%). The overall findings were consistent with ALK-negative anaplastic large cell lymphoma (ALK-ALCL). Bone marrow evaluation was not performed due to rapidly declining performance status.\nShe was treated with methylprednisolone 90 mg intravenous twice-daily beginning on day 17. Over the next 10 days, she had spontaneous diuresis, resolution of hypotension, and normalization of renal function, and CVVH was discontinued. On hospital day 24, she received cycle one of cyclophosphamide, vincristine, doxorubicin, and prednisone (CHOP). She was discharged home on day 29.\nThe patient competed six cycles of CHOP chemotherapy and attained a complete response by CT imaging. Five weeks after completion of chemotherapy, she developed blurry vision. She was found to have central nervous system (CNS) relapse of ALCL with involvement of the cerebrospinal fluid. Despite intrathecal and intravenous methotrexate therapy for one month, she had progressive disease and died two months after CNS relapse. SCLS never recurred after her initial presentation.",
"gender": "Female"
}
] |
PMC3420684
|
[
{
"age": 43,
"case_id": "PMC7229345_01",
"case_text": "The mother is 43 years old and the father is 49 years old, both healthy non consanguineous parents who live in a village. No known teratogenic exposure during pregnancy. They have eight healthy children, six boys and two girls except our case who is the last child for the family. The child is 6 years old medically free, product of normal spontaneous vaginal delivery at full term without any intensive care unit admission. No reports available for his status during delivery and no ultrasound report. According to the mother his weight at delivery was 1.9 kg.\nFirst time seen in our clinic at 23 months of age where he was referred to our genetic department in the hospital. They found that he has SNP (single nucleotide polymorphism) positive duplication in chromosome y or x. Same mutation was found in the father. The child started to sit at 9 months and walk at 18 months. The parents still didn't enroll him in any school in the village. Upon examination, no dysmorphic features where noted aside from bilateral absent upper limbs from the shoulder (Fig. 1). He has a right limb leg length discrepancy of 2 cm with pelvic tilt with a positive Adams forward bending test with right rib hump. Normal distal neurovascular examination. He has about 90 degrees of flexion and 20-30 degree of extension and lateral bending upon range of motion examination for the back. Abdominal Ultrasound done in our hospital showed no abnormalities. Right thoracolumbar curve of 45 degrees was identified in imaging without any other vertebral or cord abnormalities in MRI (Fig. 2). Bone mineral density exam was normal. The family was counseled about the child's condition and the options for treatment. They agreed for growing rod method. In March 2019 he underwent VEPTR application.\nOur aim was to keep it as the definitive fixation with periodic lengthening, as well as to preserve spine range of motion as much as possible to maintain his independence in daily living activities by the use of his lower limbs. Rib to ilium VEPTR applied from the 5th and 6th rib to iliac bone with cradle and ala hook and multiple anchor connections. Reduction of 18 degrees was achieved for the thoracolumbar curve (Fig. 3).\nPost-surgical intervention the child was seen in the clinic. Maintaining preoperative range of motion for the spine and able to use his lower limbs for feeding, drawing and combing his hair (Figs. 4 and 5). Patient followed up for 1 years and will be followed up until the skeletal maturity.",
"gender": "Female"
}
] |
PMC7229345
|
[
{
"age": 41,
"case_id": "PMC5161787_01",
"case_text": "Two men, aged 22 and 41 years old, presented to the same emergency department within 2 weeks of each other, with decompensating schizophrenia and bipolar disorder refractory to multiple psychopharmacologic interventions (olanzapine, aripiprazole, and fluphenazine). Symptoms included paranoia and grandiose delusions. Both patients were clozapine-naive; neither patient had any history of structural heart defects at the time of admission to the hospital. The patients were thus started on clozapine. Dosages of 300 and 200 mg/day were administered on the 22-year-old and 41-year-old patient, respectively. Paranoia and delusions were observed to be well controlled following clozapine initiation. Both patients continued to be monitored in the psychiatry department following admission to the hospital.\nBetween the 9th and 13th day of clozapine treatment, both patients started developing cardiac dysfunction as infectious gastroenteritis was propagating throughout the entire hospital population. Initially, the clinical presentation of these psychiatric patients was similar to that of the general medicine ward patients. Both had the abrupt onset of constitutional symptoms, including fever, myalgias, arthralgias, and fulminant, voluminous, explosive diarrhea.",
"gender": "Unknown"
},
{
"age": 22,
"case_id": "PMC5161787_02",
"case_text": "However, these two patients rapidly worsened and were thus transferred to the medical intensive care unit. Elevated white blood cells (WBCs) levels with a left shift were observed in both patients. The 22-year-old patient acquired a respiratory tract infection while the other did not. Clozapine was stopped in both patients as cardiovascular complications occurred. Both patients showed progression to heart failure with extreme decline in ejection fraction and shock, prompting diagnoses of myocarditis requiring ventricular assist devices.",
"gender": "Unknown"
},
{
"age": 22,
"case_id": "PMC5161787_03",
"case_text": "Polymerase chain reaction (PCR) tests for the presence of viral nucleic acids were negative in both patients. Cardiac biopsy in the 22-year-old patient showed lymphocyte infiltration of the myocardium (Fig. 1). Cardiac biopsy in the 41-year-old patient showed eosinophilic infiltration of the myocardium (Fig. 2). No echocardiogram was performed. The younger patient expired 2 weeks following clozapine termination, while the other stabilized and was eventually discharged.",
"gender": "Unknown"
}
] |
PMC5161787
|
[
{
"age": 57,
"case_id": "PMC3992216_01",
"case_text": "A 57-year-old white male had type 2 diabetes complicated by macular edema, cataracts, distal symmetrical polyneuropathy, autonomic neuropathy, hypertension, and ischemic heart disease for at least 17 years. Nine years after diagnosis, because of poor glycemic control (partially due to an inability to tolerate metformin), he was started on twice daily premixed 70/30 insulin aspart in combination with a sulfonylurea, which was later replaced by the DPP4 inhibitor (sitagliptin). Prior to commencing insulin therapy, he weighed 210 lbs (BMI 29 Kg/m2) and with insulin his weight increased to 247 lbs (BMI 34 Kg/m2).\nAfter an initial assessment, sitagliptin was replaced by the more powerful liraglutide, which was given subcutaneously and slowly increased from 0.6 to 1.8 mg per day. He was also started on canagliflozin 100 mg daily for 1 week, after which the canagliflozin was increased to 300 mg daily. His total insulin dose, which was initially 0.6 units per Kg, was initially decreased to 0.4 units/Kg, and after 2 weeks was changed to 0.2 units/Kg twice daily in divided doses. Four weeks after starting the combination of canagliflozin and liraglutide, he was able to discontinue insulin.\nWith maximization of liraglutide and canagliflozin therapy over the following 3 months, his HbA1c, in spite of the removal of exogenous insulin, dropped from 7.0% to 6.8%, and he had reductions in body (weight from 247 to 218 lbs), BMI (from 34 to 29.5 Kg/m2), waist circumference (from 47 to 44 1/2 inches), and neck circumference (from 19 1/2 to 18 1/4 inches).",
"gender": "Male"
}
] |
PMC3992216
|
[
{
"age": 0,
"case_id": "PMC5917864_01",
"case_text": "Forty-five day old male infant, presented with features of congestive cardiac failure. Echocardiography showed critical coarctation of the aorta (peak gradient across aortic arch 35 mmHg with pandiastolic spilling), severe left ventricular dysfunction (LVEF-25-30%), fossa ovalis ASD (5mm) with left to right shunt, mild TR with peak gradient of 70mmHg, normal connecting pulmonary veins and confluent and dilated pulmonary arteries. There was a bicuspid aortic valve and mild aortic stenosis (peak/mean gradient across aortic valve=23/15 mmHg). The child underwent balloon dilatation of coarctation of aorta successfully.\nPost balloon dilatation of coarctation, catheterization data and echocardiography showed high right ventricular pressure despite the absence of significant gradient across the aortic valve and aortic arch (table 1), with improvement in left ventricular ejection fraction (LVEF 45%).\nEchocardiography was reviewed again in detail and showed confluent and dilated central pulmonary arteries and stenosis of the lower branch of the right pulmonary artery (gradient 40mmHg with pandiastolic spilling - figure 1a,1b).\nIsolated branch pulmonary artery stenosis in isolation might not be responsible for severe PAH but was definitely contributing to high pulmonary artery pressures. The causes of persistence of PAH after relief of LVOTO could be a combination of pulmonary venous hypertension and branch pulmonary artery stenosis. As the child was clinically stable, he was discharged on a once on daily dose of diuretic (frusemide). Follow up after three months showed severe aortic valve stenosis and restenosis of a dilated coarctation segment. The child underwent balloon dilatation of the aortic valve, the coarctation and the lower branch of right pulmonary artery, with success. Post procedure echocardiography showed normalization of RV pressure (TR gradient 25 mmHg) with laminar flow in the right pulmonary artery branch (figure 2a,b). The child has been well since.",
"gender": "Male"
},
{
"age": 0,
"case_id": "PMC5917864_02",
"case_text": "Fifteen days old male neonate, birth weight of 2.8 Kg, was brought to emergency with severe respiratory distress and features of congestive cardiac failure. Echocardiography showed critical aortic stenosis, left ventricular hypertrophy, severe left ventricular dysfunction (EF 15%), and severe PAH (TR gradient 80 mmHg). The left ventricle was apex forming but the mitral valve annulus had a Z score of minus 2.34 (absolute value 8 mm).\nBalloon dilatation of the aortic valve was done successfully. Post balloon dilatation echocardiography showed no significant gradient across the aortic valve (mean gradient 10mmHg), mild aortic regurgitation, normal LV systolic function (EF 58%), but persistence of PAH (TR gradient 75 mmHg). The baby was clinically stable and was discharged with regular cardiology follow up. In view of persistence of PAH, cardiac catheterization was done 6 months post balloon dilatation and this showed high LV end-diastolic pressure (LVEDP 18-20mmHg), high pulmonary capillary wedge pressure with no transmitral gradient (table 2).",
"gender": "Male"
},
{
"age": 4,
"case_id": "PMC5917864_03",
"case_text": "The child was started on oral diuretics and a pulmonary vasodilator (sildenafil). He is now 4 years old but failing to thrive (weight 15 kg, minus 2-3 standard deviation). On echocardiography, the right ventricle is dilated and apex forming, mitral annulus 13 mm (Z score minus 1.5) along with persistence of severe PAH and LV diastolic dysfunction.",
"gender": "Male"
},
{
"age": 1,
"case_id": "PMC5917864_04",
"case_text": "A one year old female child, weighing 6 kg, was brought to emergency with wheezing and respiratory distress. There was a history of multiple such episodes in the past. The child had undergone balloon dilatation of coarctation of the aorta in the neonatal period in another hospital and was on a pulmonary vasodilator (sildenafil) in view of persistence of PAH. After stabilization, echocardiography evaluation at our centre revealed a well opened dilated coarctation segment (gradient 12 mmHg, no diastolic spilling), tiny patent ductus arteriosus (PDA) with left to right shunt, normal left ventricular function and dimensions, dilated right atrium and ventricle, mild TR (gradient 73 mmHg), and turbulent flow in right and left pulmonary veins suggestive of stenosis. On continuous wave Doppler interrogation, there was continuous pattern with a mean gradient of 6 mmHg. CT pulmonary angiography was done to define the pulmonary veins. There was severe, long segment stenosis of the left lower pulmonary vein with hypoplasia, along with severe stenosis of the right upper pulmonary vein (figure 3a, b). Pulmonary veins stenosis was the factor responsible for persistence of PAH.\nThis stenosis of the pulmonary veins may be missed at the time of initial evaluation due to high LVEDP and venous hypertension with critical coarctation of aorta. The family was given the option of cardiac catheterization with high risk balloon dilatation/stenting of the pulmonary veins. The parents opted for medical management.",
"gender": "Female"
},
{
"age": 0,
"case_id": "PMC5917864_05",
"case_text": "A 25 day old male baby born at full term gestation, with uneventful antenatal and perinatal period, birth weight of 3.1 kg, was brought to emergency with complaints of poor feeding and respiratory distress for one week. Chest radiograph showed cardiomegaly. Echocardiography revealed bicuspid aortic valve, critical aortic stenosis, small PDA (right to left shunt) and severe left ventricular dysfunction (LVEF 20%). The baby underwent balloon dilatation of the aortic valve successfully. Two days post balloon dilatation, repeat echocardiography while still on oxygen showed a mean gradient across the aortic valve of 18 mmHg, trivial aortic regurgitation, no flow across the PDA and mild tricuspid regurgitation (gradient 28 mmHg) with a left ventricular ejection fraction of 50%.\nAfter 3 months, he was readmitted with features of congestive cardiac failure. Echocardiography showed a well opened aortic valve (mean gradient 20 mmHg), trivial aortic regurgitation, normal mitral valve, normal flow in the pulmonary veins and normal LV function. There was right ventricular dysfunction with severe PAH (TR peak gradient 86 mmHg). CT pulmonary angiography was done to profile pulmonary vein anatomy and to rule out any lung malformation contributing to PAH. The child was stabilized with diuretics and oxygen. Repeat echocardiography showed a TR gradient of 50 mmHg (on oxygen by nasal prongs 5 l /minute).\nCardiac catheterization was done for hemodynamic assessment. Hemodynamic data (taken on oxygen) is given in table 3. The data showed moderate pulmonary arterial hypertension, normal left ventricular filling pressure (5 mmHg) and no significant gradient across the aortic valve. The baby was stabilized on a pulmonary vasodilator (sildenafil) and oral diuretics (frusemide and aldactone). He was discharged in a clinically stable condition.\nAfter two months the child returned with acute deterioration. Echocardiography showed severe pulmonary arterial hypertension with severe RV dysfunction. Despite all resuscitative measures, child could not be revived.",
"gender": "Male"
}
] |
PMC5917864
|
[
{
"age": 28,
"case_id": "PMC4891467_01",
"case_text": "We report the case of a 28 year old man who sustained a rotary injury to his wrist. Eight months later at an outside institution, he underwent an ulnar shortening osteotomy. One year later, due to continuing symptoms, a second surgery was performed, with hardware removal and distal right ulna resection. He presented to our institution 16 months later with constant, worsening pain in his right upper extremity which increased with activity, despite treatment. Physical examination showed limited range-of-motion of flexion and extension in the right wrist, decreased range of supination at the elbow, decreased right grip strength, and instability of the distal ulnar stump. Initial radiographs demonstrated distal ulnar resection (Figure 1). The patient next underwent placement of a Scheker prosthesis (Aptis Medical) at the DRUJ. A post-operative image is shown in Figure 2.",
"gender": "Male"
}
] |
PMC4891467
|
[
{
"age": 33,
"case_id": "PMC5340088_01",
"case_text": "A 33-year-old female patient of Latvian descent reported with a history of decreased bilateral visual acuity. Initially the patient's history was unremarkable, but during her second visit she acknowledged that for spiritual purposes she had been observing the sun with the naked eye regularly for many minutes over the past 8 years. Her uncorrected distance visual acuity (UCVA) was 0,9 in both eyes. A color fundus image disclosed a small round whitish discoloration in the fovea of both eyes (Figure 1 (Fig. 1)). A discrete discontinuity in the inner and outer segment junction (IS/OS), cone outer segment layer (COST), and retinal pigment epithelium layer (RPE) in the fovea of both eyes was noted on SD-OCT along with a streak of increased reflectivity in the choroid and sclera corresponding in size and location to the whitish discoloration on the color fundus image probably caused by focal RPE atrophy (Figure 2 (Fig. 2)). No changes were found on short-wavelength fundus autofluorescence (SW-FAF) (Figure 3 (Fig. 3)). However, on near-infrared fundus autofluorescence (NIA) small spots of hypoautofluorescence in both maculae corresponding in location to the white discoloration in the color fundus image and the IS/OS to RPE layer retinal layer disruption on SD-OCT were found (Figure 4 (Fig. 4)). The hypoautofluorescent spots were also similar in size to the white discoloration in the color fundus image. The anterior segment examination was normal in both eyes. Based on these results we diagnosed the patient with solar retinopathy and advised her to discontinue looking at the sun with the naked eye.",
"gender": "Female"
}
] |
PMC5340088
|
[
{
"age": 23,
"case_id": "PMC6438861_01",
"case_text": "A 23-year-old woman was admitted to the Neuroradiology Division to participate in an experimental fMRI study as part of the \"normal\" control group. Inclusion criteria were the following: (1) no past or current mental illness assessed using the Mini-International Neuropsychiatric Interview (MINI) Plus: in particular, no major depression, dysthymia, mania or disinhibition based on DSM-V criteria; (2) no family history of mental illness or psychiatric hospitalization; (3) no history of head injury with loss of consciousness; (4) a Mini Mental State Examination (MMSE) ( ) score of >=27; (5) no current pharmacological treatment, substance abuse or dependence that could substantially affect cognitive functioning.\nAt the pre-scan evaluation, the young woman was alert, conscious and oriented in time and space. Production and comprehension of language were preserved. The neurological examination was negative. The psychological interview for inclusion in the normal control group highlighted normal mental status and psychological adjustment, intellectual and problem-solving ability, processing speed and executive functioning.\nThe young woman1 had a normal postnatal developmental history and complete functional independence of long-living. She has reached the main milestones of young adulthood. Moreover, she denied any functional or social dysfunction in everyday life.\nNeuroimaging data was acquired using a 3T Philips Ingenia scanner. Structural images were collected using T1-weighted (TR = 8.1 ms, TI = 900 ms, TE = 3.7 ms, voxel size = 1 x 1 x 1 mm3) and axial T2-weighted FSE (TR = 3200 ms, TE = 100 ms, FOV = 432 x 432 mm, section thickness = 4 mm, acceleration factor = 2) sequences. The MRI showed no alterations of the brain parenchyma in the supra and infratentorial sites. Ventricles and sulci were of normal size and aligned. However, unexpected appreciable agenesis of the splenium of the corpus callosum was found ( Figure 1) with no alterations in the brain parenchyma signal in the supra and infratentorial sites.\nIn view of such neuroimaging findings, YW was referred to the Neuroradiology Division in order to undergo a thorough neuropsychological evaluation ( ). The neurologist conducted a standardized interview with the patient on her health history before formalizing the diagnostic question to the neuropsychologist. The format of the health history is structured in order to organize patient information by following a written report for other health professionals. Subsequently, the neuropsychologist carried out a psychological anamnesis: it has the purpose of investigating aspects that serve to provide useful indications for the more possible precise psychological diagnosis. The complete interview is divided into the following topics: demographic data and marital status; physiological anamnesis; recent, near and remote anamnesis; functional anamnesis; psychological and psychopathological anamnesis; family history.\nThe Brief Psychiatric Rating Scale 4.0 (BPRS 4.0) was used to measure neuropsychiatric symptomatology ( ). Specific scales were employed to assess behavioral mood changes: the Apathy Evaluation Scale-Clinician version (AES-C) ( ); the Hamilton Depression Rating Scale (HDR-S) ( ); the Young Mania Rating Scale (YMRS) ( ). The Self-Regulation Skills Interview (SRSI) ( , ), a clinical tool developed to measure higher levels of self-awareness and self-regulation skills that imply insight, motivation and compensation was also administered ( ).\nThe Toronto Alexithymia Scale (TAS-20) ( ) is one of the most widely used tools for measuring alexithymia. Alexithymia refers to individuals who are unable to identify and describe their emotions or have a tendency to minimize their emotional experience and to focus their attention externally. Items are rated on a 5-point Likert scale. The TAS-20 uses cut-off scoring: <=51 = non-alexithymia, >=61 = alexithymia.\nThe Difficulties in Emotion Regulation Scale (DERS) ( ) was administered to assess multiple aspects of emotion dysregulation. DERS is a 36-item, self-report questionnaire comprising six subscales developed to detect multiple aspects of emotion dysregulation: (1) Non-acceptance of emotional responses (Non-acceptance); (2) Difficulties engaging in goal directed behavior (Goals); (3) Impulse control difficulties (Impulse); (4) Lack of emotional awareness (Awareness); (5) Limited access to emotion regulation strategies (Strategies); (6) Lack of emotional clarity (Clarity) ( ). Recently, provided equations to calculate age- and gender-adjusted T-scores, so that clinicians would easily interpret the resultant T-transformed DERS scores, which have a mean of 50 and standard deviation of 10. DERS scores between 65 and 70 T should indicate the presence of difficulties in emotion regulation, whereas scores higher than 70 T indicate important problems in emotion regulation. DERS reported high alpha coefficients ranging from 0.80 to 0.89 for the different scales. Exploratory factor analysis was used to provide data on the factor structure of the DERS and identify the underlying dimensions of emotion regulation as assessed by this tool. We obtained T-transformed DERS scores. As mentioned before, DERS scores between 65 and 70 T indicate the presence of problems in emotion regulation and scores higher than 70 T indicate significant problems in emotion regulation.\nIntelligence was assessed using the Wechsler Adult Intelligence Scale - IV edition (WAIS-IV) ( ). The pre-morbid intelligence quotient was estimated using the Brief Intelligence Test (TIB) ( ; ) that is the Italian version of Nelson's National Adult Reading Test ( ). Cognitive abilities were analyzed through a comprehensive battery of tests to measure ( ): attention through Attentional Matrices ( ); executive functions by means of Trial Making Test parts A, B ( ); memory through Wechsler Memory Scale -Subtests 4 and 7 ( ); language oral production by means of verbal fluency ( ). The absence of unilateral visual-attentional neglect was assessed by menas of the Bells Test ( ). Dysexecutive syndrome was assessed using ecological neuropsychological tasks created to simulate daily life situations: the Behavioral Assessment of the Dysexecutive Syndrome test battery (BADS) ( ). Theory of Mind visual stories (ToM1 and ToM2) were used to test perspective-taking skills ( ), while the Reading the Mind in the Eyes task (RME) was used to measure social cognition and emotion recognition abilities ( ). Metacognition was assessed with the metacognitive version of the Wisconsin Card Sorting Test (m-WCST) ( ).",
"gender": "Female"
}
] |
PMC6438861
|
[
{
"age": 14,
"case_id": "PMC4795147_01",
"case_text": "A 14-year-old female patient reported to our department with complaint of swelling in the gums of the upper and lower right hand side quadrants of the mouth since a year. The patient first noticed the swelling 4 years before in the upper right side of the mouth - gradually and slowly increasing swelling.\nThe patient had delayed tooth eruption of the upper and lower right premolar teeth associated with gingival swelling. She underwent excisional surgery for the same 2 years before at a private dental clinic. Postsurgery within 6 months, the patient again noticed the swelling which gradually increased in size. The patient gave history of rapid increase in size since the preceding 6 months and spread toward the teeth of the left hand side of the mouth. Swelling was painless, but the patient complained that it interfered with chewing.\nThere was no history of epilepsy or major illness. She was undergoing treatment for anemia with iron supplement. Developmental milestones and other systems of the child were normal. Family and menstrual history was noncontributary. The patient has unilateral mastication habit with left side since childhood. The right hand used for brushing.\nGeneral physical evaluation was done. The patient had normal physical appearance and psychomotor skills. Normal bone development seen on the chest and extremity radiographs. The patient showed slight facial asymmetry with fullness of the right upper lip. The lips were competent [Figure 1].\nGingival enlargement was more predominant on the right hand side of the mouth, but mild involvement was present extending to the incisors as well as the lingual aspect of the left mandibular molar region [Figures 2 and 3]. Only the maxillary left posterior teeth were completely uninvolved. Both facial and palatal/lingual aspects were involved in the maxillary and mandibular right hand side quadrants covering almost the entire clinical crown. There was diffuse involvement of marginal, papillary, and attached gingiva. The swelling was irregular, largely pale pink, and firm devoid of stippling along with softened reddish pink areas toward the occlusal surface associated with calculus deposits.\nBleeding on probing was present with 14-16 regions. Several teeth were clinically submerged including the maxillary canines (13, 23) and mandibular left canine (33) and both the mandibular second premolars (35, 45). Even, the maxillary and mandibular second molar of the right hand side (17, 47) were clinically submerged. Deep pseudopockets along with attachment loss of up to 13-15 mm were present with 14, 15, 16, and 46 which showed Grade II mobility. Grade I mobility was present with 11, 12, 21, 22, 31, 32, 41-44.\nOrthopantomogram (OPG) and three dimensional cone beam computed tomography evaluation was done. The radiographs revealed that the submerged teeth had bony impaction except for the maxillary and mandibular right second molars which appeared to be still erupting. Severe bone loss was present with 14, 15, and 16 teeth [Figure 4]. In this region, there was evidence of increased spacing and further bone loss compared to an OPG taken 3 years prior and the current radiograph. In addition, generalized crestal bone loss was present except with the left maxillary posterior teeth.\nBlood investigations revealed the normal blood profile and hormonal levels. Hemoglobin level was low 10.3 mg%.\nAfter obtaining written consent, thorough scaling, root planing, and curettage were done and anti-microbial rinse chlorhexidine gluconate 0.2% prescribed and in addition used for irrigation of the pockets. This regime was repeated weekly for 3 weeks as it was difficult for the patient to maintain adequate plaque control. An incisional biopsy was done and 8 mm x 10 mm tissue specimen was sent for histopathological evaluation.\nPostphase I appearance of the tissues showed overall superficial reduction in inflammation. Following this phase, electrosurgical gingivectomy was performed. First, the maxillary surgery was performed. After administering nerve block anesthesia to the patient, the area of tissue to be excised was demarcated with a probe. The electrosurgical unit (megasurg - high frequency radiosurgery unit) was set up and the passive electrode - the patient plate tied to the patient's calf. The needle electrode (active electrode) at 8 MHz was used to outline the external bevel incision. The tissues were further undermined with a bar electrode and removed in bulk. The bar electrode was then used to plane the tissues and achieve a favorable tissue contour. Following excision, thorough irrigation of the site was done. In some sites, additional curettage was done along and closure of the area with sutures. The operative procedures for Maxilla are shown in Figure 5. Periodontal dressing was placed, and the patient was prescribed anti-biotic and analgesic medication.\nThe mandibular surgery was performed 2 weeks later similarly [Figure 6]. Postoperative healing a week later was satisfactory. The case was followed-up for 8 weeks postoperatively, and then every 3 months for 2 years. Favorable healing of the sites were seen postoperatively at 1 week, 1 month, and 3 months intervals. The mobility of teeth had significantly decreased from Grade II mobility to physiologic by 3 months postoperatively. The patient was able to maintain good oral hygiene. The patient has visited for recall follow-up since the past 2 years with minimal evidence of recurrence [Figure 7].\nEvaluation was performed using routine H and E staining as well as polarized microscopy with specific connective tissue staining to verify the nature of the fibrosis. Abundant collagen with hyalinization of the collagen fibers was seen. Congested blood vessels with mixed inflammatory infiltrate focally transgressing the overlying epithelium were observed. There was no evidence of dysplasia or malignancy [Figure 8].",
"gender": "Female"
}
] |
PMC4795147
|
[
{
"age": 72,
"case_id": "PMC8168694_01",
"case_text": "A 72-year-old female presented with sciatica and neurogenic claudication. The lumbar MRI demonstrated significant L4-L5 central/bilateral neuroforaminal stenosis with Grade 1 spondylolisthesis [Figure 1a]. She underwent a L4-5 laminectomy with fusion. No DT occurred during the operation. On postoperative day 2, she reported nausea, emesis, and fatigue, but was neurologically intact. However, on postoperative day 3, after an unwitnessed fall, she became disoriented and development left eye ptosis. A brain CT demonstrated a large left temporal ICH and a large left cerebellar hemorrhage with accompanying obstructive hydrocephalus [Figure 1b]. She underwent a suboccipital craniectomy for cerebellar clot evacuation, a left-sided decompressive hemicraniectomy for temporal clot evacuation, and eventual ventriculoperitoneal shunt placement. The postoperative lumbar MRI never showed a CSF leak. At 4-month follow-up, the patient was awake, alert, and following commands symmetrically, but remains aphasic.",
"gender": "Female"
},
{
"age": 61,
"case_id": "PMC8168694_02",
"case_text": "A 61-year-old female presented with recurrent bilateral leg pain 1 year following an initial L3-5 laminectomy. The lumbar MRI now showed new right L3-4 foraminal stenosis with Grade I spondylolisthesis at the L4-L5 level [Figure 2a]. She underwent a secondary L4-5 decompression/posterior fusion. An intraoperative DT was observed, which was repaired with a braided nylon suture, muscle patch graft, and hydrogel dural sealant, followed by placement of lumbar subarachnoid drain. Postoperatively, the patient awakened with a new left hemiparesis. A postoperative brain CT demonstrated a 17 cc right frontal ICH [Figure 2b], which was managed conservatively. Nine months later, the patient exhibited a residual left-sided hemiparesis and left facial droop with mild dysarthria which were improving.",
"gender": "Female"
}
] |
PMC8168694
|
[
{
"age": 54,
"case_id": "PMC7656049_01",
"case_text": "A 54-year-old man presented with a history of a left frontal cutaneous cell carcinoma. The patient had surgical removal of the tumor followed by radiation therapy in 2000. He had no metastasis at that time. He was then lost to follow-up for more than a decade. He presented with a painful and ulcerated extensive left frontal cutaneous lesion which occasionally bled. The progressive growth of the lesion was neglected by the patient for years. Because of a rapid progression in the past 3 months, he consulted. No other symptoms were reported. Physical examination showed a 12 x 15 x 14 cm left frontal cauliflower-like mass with a necrotic center and peripheral subcutaneous induration with erythema [Figure 1]. There was no neurological impairment. CT scan showed destruction of the left frontal skull [Figure 2a]. MRI revealed extensive frontal dural induration with a cystic invasion of the left frontal lobe [Figure 2b and c]. The patient underwent surgical removal of the tumor. The invaded skin, bone, and dura were excised with a safety margin of 1 cm [Figure 3a]. The tumor that invaded the cortex was then removed. Fascia lata muscle was used for dural reconstruction and cement for frontal bone reconstruction. Cutaneous reconstruction was performed using a scalp graft and free thigh flap transfer [Figure 3b and c]. Pathological examination revealed invasive SCC with negative margins. Three months after surgery, the grafts had completely healed [Figure 3d]. Local radiation therapy was then performed. Clinical follow-up showed no evidence of recurrence 2 years after surgery.",
"gender": "Male"
}
] |
PMC7656049
|
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