OpenMed/multicare-articles huggingface dataset:
CASE REPORT Anomalies Associated With Congenitally Corrected Transposition of Great Arteries: Expect the Unexpected
Authors: Valay Parikh, Masood A Shariff, Faisal B Saiful, Syed Bilal Rizvi, Nikhil Goyal, Kourosh T Asgarian, Joseph T McGinn Jr, Thomas Snyder, Vijay A Singh
Journal: Eplasty (2013)

Objective:
Congenitally corrected transposition of great arteries (CCTGA) is characterized by atrioventricular and ventriculoarterial discordance. Characterizations of these anomalies are important because they may influence surgical approach and management.
Methods:
We present a case of newly diagnosed CCTGA at the age of 50. He presented with sudden onset of shortness of breath for the first time and was diagnosed with CCTGA. Echocardiogram, magnetic resonance imaging, and cardiac catheterization were utilized to elucidate the pathology.
Results:
Intraoperatively, patient's CCTGA and ventricularization of the right ventricle were confirmed. The severe systemic atrioventricular valve regurgitation was replaced with a bioprosthetic valve (Medtronic Mosaic No. 29) with placement of epicardial ventricular leads for possible future placement of automatic implantable cardioverter defibrillators. Pathology report confirmed a degeneration of the systemic atrioventricular valve.
Conclusions:
Significant coronary artery anomalies have also been described in literature with CCTGA. The variances encountered in this case are excellent examples of the intricacies associated in diagnosis and surgical care in patients with CCTGA.
Spruelike enteropathy associated with olmesartan: an unusual case of severe diarrhea
Authors: Stephanie E Dreifuss, Yutaka Tomizawa, Nicholas J Farber, Jon M Davison, Adam E Sohnen
Journal: Case Rep Gastrointest Med (2013)

A 64-year-old male with a history of hypertension presented with worsening diarrhea and 25-pound weight loss over the preceding three months. Prior screening colonoscopy was unremarkable, and the patient failed conservative management. On presentation, the patient had orthostatic hypotension associated with prerenal azotemia for which olmesartan (40 mg/day) was held. Initial workup for chronic diarrhea was essentially unremarkable. Then, EGD was performed with small bowel biopsy, which showed a moderate villous blunting and an intraepithelial lymphocyte infiltration. Celiac disease was excluded by negative conventional serology tests and the absence of clinical response to a gluten-free diet. In the interim, diarrhea became resolving without any other interventions, and clinical response was achieved even with gluten-containing diet. Two months later, he achieved a complete resolution of diarrhea and regained 20-pound weight. Spruelike enteropathy is a clinical entity manifested by chronic diarrhea and intestinal villous atrophy. Spruelike enteropathy associated with olmesartan as a cause of drug-induced diarrhea is rare, and it has been reported only in a case series to date. This case highlighted the importance for clinicians to maintain a high index of suspicion for olmesartan as a precipitant of spruelike enteropathy.
Agranulocytosis Associated with Topiramate: A Case Report and Review of Published Cases
Authors: Saroj Lohani, Niranjan Tachamo, Salik Nazir, Anthony Donato
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

A 41-year-old female presented to the hospital with sore throat and shortness of breath. She was hypoxic with an oxygen saturation of 87% in room air. Physical examination revealed swollen uvula with exudates. She had been started on topiramate for treatment of migraine few months ago. The dose of topiramate was increased to 100 mg twice daily 2 weeks ago. Complete blood count revealed an absolute neutrophil count (ANC) of 8 c/mm3. She was intubated and started on broad-spectrum antibiotics. She was transferred to our hospital on the fifth day of hospitalization. On arrival, her absolute neutrophil count was 10 c/mm3. Her agranulocytosis was attributed to topiramate after ruling out other possible causes. ANC improved after topiramate was stopped. ANC increased to 1000 after 5 days of stopping topiramate. We also reviewed published cases of topiramate-associated agranulocytosis. Agranulocytosis is a rare side effect of topiramate, and only 3 case reports have been published so far. In all cases, agranulocytosis developed after months of topiramate therapy and when dose was increased to 200 mg daily suggesting a dose-dependent effect. Next steps would be further research on the pathogenesis of agranulocytosis associated with topiramate and creation of registry for data synthesis.
Detecting Borrelia Spirochetes: A Case Study With Validation Among Autopsy Specimens
Authors: Shiva Kumar Goud Gadila, Gorazd Rosoklija, Andrew J Dwork, Brian A Fallon, Monica E Embers
Journal: Front Neurol (2021)
Keywords: borrelia, lewy body, lyme, pcr, rna in situ hybridization, dementia, immunofluorescent

The complex etiology of neurodegenerative disease has prompted studies on multiple mechanisms including genetic predisposition, brain biochemistry, immunological responses, and microbial insult. In particular, Lyme disease is often associated with neurocognitive impairment with variable manifestations between patients. We sought to develop methods to reliably detect Borrelia burgdorferi, the spirochete bacteria responsible for Lyme disease, in autopsy specimens of patients with a history of neurocognitive disease. In this report, we describe the use of multiple molecular detection techniques for this pathogen and its application to a case study of a Lyme disease patient. The patient had a history of Lyme disease, was treated with antibiotics, and years later developed chronic symptoms including dementia. The patient's pathology and clinical case description was consistent with Lewy body dementia. B. burgdorferi was identified by PCR in several CNS tissues and by immunofluorescent staining in the spinal cord. These studies offer proof of the principle that persistent infection with the Lyme disease spirochete may have lingering consequences on the CNS.
Rhabdomyolysis Following Initiation of Posaconazole Use for Antifungal Prophylaxis in a Patient With Relapsed Acute Myeloid Leukemia: A Case Report
Authors: Mayur D Mody, Deepak Ravindranathan, Harpaul S Gill, Vamsi K Kota
Journal: J Investig Med High Impact Case Rep (2017)
Keywords: aml, acute myeloid leukemia, posaconazole, rhabdomyolysis

Posaconazole is a commonly used medication for antifungal prophylaxis in patients with high-risk acute leukemia, such as acute myeloid leukemia. Despite clinical data that show that posaconazole is superior to other antifungal prophylaxis medications, posaconazole is known to have many side effects and drug-drug interactions. We present a patient who developed rhabdomyolysis after being started on posaconazole for prophylaxis in the setting of relapsed acute myeloid leukemia.
Case Report: Phenotype-Gene Correlation in a Case of Novel Tandem 4q Microduplication With Short Stature, Speech Delay and Microcephaly
Authors: Umm-Kulthum Ismail Umlai, Basma Haris, Khalid Hussain, Puthen Veettil Jithesh
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: balanced translocation, chromosomal duplication, chromosome 4, horseshoe kidneys, microcephaly, rare diseases, short stature, speech delay
MeSH terms: Language Development Disorders / genetics, Microcephaly / genetics, Case Reports, Research Support, Non-U.S. Gov't, Chromosome Duplication / genetics, Humans, Male, Phenotype, Protein Serine-Threonine Kinases, Retrospective Studies, PLK4 protein, human, Protein Serine-Threonine Kinases

We describe a sporadic case of a pure, tandem, interstitial chromosome 4q duplication, arr[hg19] 4q28.1q32.3 (127,008,069-165,250,477) x3 in a boy born at 36 weeks of gestation. He presented with microcephaly (head circumference <1st percentile), short stature (height <2nd percentile) and poor weight gain (weight <3rd percentile). Hypospadias and horseshoe shaped kidneys were also revealed following a urinary tract ultrasound. Biochemical analysis revealed normal growth hormone and thyroid hormone levels. While gross and fine motor skill development was in line with his age, speech delay was observed. This patient adds to a group of more than 30 cases of pure 4q tandem duplication with common and differing phenotypic presentations. Using a retrospective analysis of previous case studies alongside the current case and bioinformatics analysis of the duplicated region, we deduced the most likely dosage sensitive genes for some of the major phenotypes in the patient. The positive predictive value (PPV) was calculated for each gene and phenotype and was derived by comparing the previously reported patients who have gene duplications and an associated phenotype versus those who had the gene duplications but were unaffected. Thus, the growth retardation phenotype may be associated with NAA15 duplication, speech delay with GRIA2 and microcephaly with PLK4 duplication. Functional studies will help in confirming the observations and elucidating the mechanisms. However, our study highlights the importance of analysing case reports with pure duplications in defining phenotype-gene relationships and in improving our knowledge of the function of precise chromosomal regions.
Intra-abdominal desmoplastic small round cell tumor: Presentation of four cases and review of the literature
Authors: Biswa Mohan Biswal, Venkatesh R Naik, Syed Ejaz Shamim
Journal: Indian J Med Paediatr Oncol (2010)
Keywords: abdomen, chemotherapy, desmoplastic small round cell tumor, management and prognosis, radiotherapy, surgery
MeSH terms: Case Reports

Desmoplastic small round cell tumor (DSRCT) of the abdomen is a recently identified aggressive neoplasm. Very few cases have been reported in the literature. Thus, the treatment guidelines are yet to be defined. The role of chemotherapy, radiotherapy and surgery is evolving. We treated four cases of DSRCT involving the abdomen using combination chemotherapy and/or tumor cytoreductive surgery. There were two men and two women. The chemotherapy drugs consisted of cisplatin, adriamycin, etoposide, ifosphamide, vincristine and cyclophsophamide. All patients achieved meaningful partial response to chemotherapy, which maintained for 6-9 months. There were very minimal chemotherapy-related complications. At the time of reporting, the median survival time was 15 months. Thus, DSRCT is an aggressive intra-abdominal tumor with excellent chemoresponsiveness, but relapse is frequent.
A Rare Case of Breast Mucosa-Associated Lymphoid Tissue (MALT) Lymphoma With Amyloid Deposition in a Patient With Sjogren's Syndrome
Authors: Hussain Dalal, Arlene Yu, Crystal Antoine-Pepeljugoski
Journal: Cureus (2023)
Keywords: amyloid, mucosa-associated lymphoid tissue (malt) lymphoma, primary breast cancer, serum protein electrophoresis (spep), sjogrens syndrome
MeSH terms: Case Reports

Marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT) of the breast with amyloid deposits is a very rare cause of breast malignancy. Patients who carry a diagnosis of Sjogren's syndrome (SS) have a 5-10% lifetime risk of developing non-Hodgkin lymphoma with MALT lymphoma as the most common histologic subtype. Our case highlights the importance of routine screening mammography in the early detection of such unusual malignancies, and further interventions needed to diagnose and appropriately manage breast MALT lymphoma.
Treatment and rehabilitation outcomes of children affected with nodding syndrome in Northern Uganda: a descriptive case series
Authors: Suzanne Gazda, David Lagoro Kitara
Journal: Pan Afr Med J (2018)
Keywords: hope for humans (hfh), nodding syndrome, food rehabilitation, growth and improved quality of life
MeSH terms: Nodding Syndrome / therapy, Nutritional Support / methods, Seizures / etiology, Vitamins / administration & dosage, Adolescent, Child, Female, Growth Disorders / epidemiology, Growth Disorders / etiology, Growth Disorders / therapy, Humans, Male, Nodding Syndrome / epidemiology, Nodding Syndrome / rehabilitation, Retrospective Studies, Seizures / epidemiology, Seizures / therapy, Treatment Outcome, Uganda / epidemiology, Wasting Syndrome / epidemiology, Wasting Syndrome / etiology, Wasting Syndrome / therapy, Vitamins

Introduction:
Nodding Syndrome (NS) is a neurological disorder affecting children 5-15 years at onset in East Africa. A major criterion for diagnosis is atonic seizure with dorso-ventral "nodding" of the head. Comorbidities include psychological and behavioral abnormalities, malnutrition, cognitive decline, school dropout and other seizure types. We aimed to describe the presentations and rehabilitation outcomes of NS children at Hope for HumaNs (HfH) centre in Gulu from September 2012 to October 2013.
Methods:
Data was obtained from a retrospective review of 32 NS children's medical records at HfH center. Ethical approval was obtained from Gulu University IRB. Data analysis was conducted using WHO AnthroPlus, SPSS and Excel software.
Results:
Growth statistics showed steady improvement over time using local nutrition and multivitamin supplementation. Severe and moderate stunting was reduced from a combined total of 54.8% to 7.7% and 12.8% respectively. Severe and moderate wasting was reduced from 29.1% to 2.6% and 5.1% respectively. Three groups of NS children were identified and compared in the review; Low seizure occurrence averaging <2 seizures/month (28.1%); Moderate averaging 2-4 seizures/month (34.4%) and High averaging >4 seizures/month (37.5%).
Conclusion:
NS is a neurological disorder of unknown etiology. Treatment with regular high quality local nutrition, multivitamin supplementation, anti-seizures, regular follow up and illness prevention; children's seizures can be reduced or stopped completely. The debilitating malnutrition and stunting of NS children in Uganda could be partially independent of the syndrome but attributable to poor nutrition. NS as observed is not "invariably fatal" but rather a treatable neurological disorder.
Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child
Authors: Lili Pan, Zhuoguang Li, Zhe Su, Wei Su, Rongfei Zheng, Weiyan Chen, Xuezhi He, Jianming Song, Shoulin Li, Pengqiang Wen
Journal: Front Genet (2022)
Keywords: 46, xy gonadal dysgenesis, dhh, hedgehog signaling pathway, complications, neuropathy
MeSH terms: Case Reports

Background: Desert hedgehog (DHH), as a member of the Hedgehog (HH) family, is mainly involved in testicular development and peripheral nerve sheath formation. A DHH variant has been identified in patients with 46, XY gonadal dysgenesis (46, XY GD) with or without neuropathy, but few reports mention the involvement of other complications. Case presentation: Here, we report a Chinese female patient who was hospitalized at 14.3 years old due to slow breast development for more than 1 year. She had a female genitalia phenotype and breast development started at 13 years old but progressed slowly. She was not yet menarche on admission, and she had intermittent muscle cramps in her hands and feet. Her karyotype analysis was 46, XY and the SRY gene was positive. Surgical exploration revealed no uterus or ovaries, and the pathology of bilateral gonads was dysplastic testis tissue, which was consistent with partial gonadal dysgenesis (PGD). Genetic analysis identified a homozygous pathogenic variant in DHH exon 3 (c.1027T>C, p. Cys343Arg). During the 6-year follow-up, she received estrogen replacement therapy, resulting in breast development progression without gender dysphoria. However, her peripheral neuropathy became more obvious, and a nerve conduction study (NCS) indicated decreased nerve conduction velocity and action potential. In addition, she also suffered complications such as obesity, insulin resistance, fatty liver, and gastric ulcers. Conclusion: In the present study, we reported a case of 46, XY GD with minifascicular neuropathy caused by a DHH homozygous variant, and we summarized the reported cases worldwide. For the first time in such patients, we showed a comparison of NCS changes with age as well as the presence of multiple complications not previously reported.
Primary epitheloid angiosarcoma of the pleura: an exceptional tumor location
Authors: Mustapha Azzakhmam, Abderrahim Elktaibi, Mohamed Reda El Ochi, Mohamed Allaoui, Abderrahmane Albouzidi, Mohamed Oukabli
Journal: Pan Afr Med J (2019)
Keywords: angiosarcoma, pleura, epitheloid, immunohistochemistry
MeSH terms: Hemangiosarcoma / diagnosis, Pleural Neoplasms / diagnosis, Tomography, X-Ray Computed / methods, Case Reports, Review, Aged, Biopsy, Hemangiosarcoma / pathology, Humans, Male, Pleural Neoplasms / pathology

Primary angiosarcoma of the pleura is an extremely rare tumour arising from arterial or venous pulmonary vessels of various size. It is characterized by an aggressive course and a poor prognosis. The early diagnosis is challenging due to diverse clinical and radiological manifestations. We report a case of a 70 year old male with primary right pleural epitheloid angiosarcoma. The patient had a history of a two week's progressive dyspnea. CT-scan showed a prominent thikening of the right pleura associated with pleural effusion and atelectasis. CT-scan guided by biopsy was performed and histological examination showed a tumor proliferation consisting of sheets of polygonal and epitheloid cells showing rudimentary vascular differentiation. Immunohistochemically, tumor cells were strongly positive for CD31 and Factor VIII-related antigen, negative for CD34, weakly and focally positive for EMA and Cytokeratine. The overall pathological and immunohistochemical features of the pleural specimens supported the diagnosis of epitheloid angiosarcma. The patient died after a week of discharge by pulsless ventricular tachycardia arrest. In addition, we also present a brief litterature review on pleural angiosarcoma. Our experience with this case suggests that comprehensive and sufficient sample collection and meticulous histological examination aided with immunohistochemical stains, particulary the endothelial markers, are required for accurate diagnosis of this rare malignancy.
A Massive Ewing Sarcoma of the Rib: A Case Report with Literature Review
Authors: Naseem Fahad, Dima Hamideh, Rana Zareef, Samir Akel
Journal: Case Rep Pediatr (2022)
MeSH terms: Case Reports

A 9-year-old boy with a 16 cm chest wall mass, presenting with progressive cough and exertional dyspnea, was finally diagnosed with Ewing sarcoma of the rib. Such massive tumors usually present with metastasis and carry a bad prognosis. Fortunately, we present here a successful treatment approach for Ewing sarcoma of the ribs, defeating the overwhelming obstacles commonly faced in chest wall tumors. Delays in diagnosis, misdiagnosis, difficulty with general anesthesia, opportunistic infections, disruptions in chemotherapy delivery, and debilitating chest wall deformities are all potential challenges that could complicate the course of treatment.
A case report of recalcitrant aphthous ulcers in two patients treated with interleukin-17 inhibitors
Authors: Madison Ward, Khalad Maliyar, Melinda Gooderham
Journal: SAGE Open Med Case Rep (2021)
Keywords: behçet’s disease, interleukin-17, aphthous ulcers, psoriasis, ulcers
MeSH terms: Case Reports

The interleukin-17 signaling pathway plays a critical role in the pathogenesis of psoriasis. By inhibiting this pathway, there is a reduction in the severity of psoriasis and many patients achieve clear skin. We present two individuals, a 34-year-old male and a 40-year-old female, who developed aphthous ulcers on the oral mucosa and oral and vulvar mucosa, respectively, while undergoing treatment with interleukin-17 inhibitors. The ulcers did not respond to conventional therapy, including topical corticosteroids and nystatin 100,000 unit/mL oral suspension. Both patients underwent biopsies which confirmed the diagnosis of ulcer. Once confirmed, the interleukin-17 inhibitor was discontinued and the ulcers resolved in both cases. As we see biologic treatment, specifically interleukin-17 inhibitor, becoming more popular for the treatment of psoriasis, it is important for physicians to be aware of this potential adverse event. Early detection and intervention are important to avoid complications that can develop from rare but often painful ulcers.
Effects of Intensive Crew Training on Individual and Collective Characteristics of Oar Movement in Rowing as a Coxless Pair
Authors: Mathieu Feigean, Mehdi R'Kiouak, Reinoud J Bootsma, Jérôme Bourbousson
Journal: Front Psychol (2017)
Keywords: crew behavior, individual pattern, joint action, rowing, synchrony

This case study examined how two rowers adapted their rowing patterns following crew training as a newly formed coxless pair. The two participants were expert (double-oar) single scull-boat rowers. Performing as a crew in the coxless-pair's sweep-boat, where each rower operates a single oar, on-the-water data were collected before and after a 6-week intensive team-training program. Rowing patterns were characterized by the horizontal oar angle, oar angular velocity and linear oar-water velocity profiles during the catch (minimal oar angle) to finish (maximal oar angle) half-cycles of the propulsive water phase. After crew training, rowers demonstrated a tighter synchronization and a closer correspondence in oar angle at the moment of catch, together with a closer matching of the evolution over time of their subsequent oar movements. Most likely due to the inherent asymmetries involved in sweep-boat rowing, the stroke rower also developed a somewhat longer-duration larger-amplitude oar movement than the bow rower. Remarkably, both rowers revealed changes in the inter-cycle variability of their individual patterns of rowing. While the initially more variable stroke rower improved the consistency of his rowing pattern over practice, the initially highly consistent bow rower on the contrary relaxed his tendency to always perform in the same way. We discuss how the crew performance changed over training and to what extent it was associated with changes in individual behaviors. Along the way we demonstrate that the often-used measure of average continuous relative phase does not adequately capture the particularities of the coordination pattern observed. Overall, the results obtained at the individual level of analysis suggest that team benefits were obtained through distinct adaptations of the rowers' individual rowing patterns.
Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li-Fraumeni Syndrome
Authors: Francesco Paduano, Fernanda Fabiani, Emma Colao, Francesco Trapasso, Nicola Perrotti, Vito Barbieri, Francesco Baudi, Rodolfo Iuliano
Journal: Front Genet (2021)
Keywords: lfs cancers, li-fraumeni, tp53, germline tp53 variant, targeted sequencing
MeSH terms: Case Reports

Li-Fraumeni syndrome (LFS) is an inherited autosomal dominant disease characterized by a predisposition to many cancers. Germline pathogenic variants in TP53 are primarily responsible for LFS. By performing a targeted sequencing panel in a proband with liver carcinoma having a deceased son affected by osteosarcoma, we found the novel heterozygous frameshift variant c.645del (p.Ser215Argfs*32) in the TP53 gene. This variant co-segregated with typical LFS cancers in the family pedigree, consistent with the pathogenicity of this novel and previously undescribed TP53 variant.