OpenMed/multicare-articles huggingface dataset:
Nonconstrictive epicarditis mimicking a cardiac mass in a 71-year-old Caucasian man: a case report and review of the literature
Authors: Asa M Margolis, Andrew B Emmerman, Mario Rascon, Saima I Chaudhry
Journal: J Med Case Rep (2009)

Introduction:
Isolated cases of epicarditis are rare. Thus far, all have occurred with constrictive physiology as most cases involve both parietal and visceral pericardium. We report the first case of asymptomatic epicarditis that involved only the visceral pericardium presenting without constrictive physiology.
Case presentation:
A 71-year-old male with a history of atrial fibrillation, coronary artery disease, pericardial effusion, type-2 diabetes and hypothyroidism presented with 5 weeks of fatigue and 1 day of dizziness. Physical examination was significant for pallor and tachycardia. Laboratory analysis revealed a hemoglobin count of 7.2 g/dl and iron deficiency anemia. The patient was transfused and evaluated by endoscopic ultrasound. A polypoid mass in the gastric cardia was found and later diagnosed as gastric adenocarcinoma (staged as T1N0M0). The pericardial effusion was evaluated with transthoracic echocardiography which showed a 2.0 x 2.7 cm mass associated with the right atrium. Transesophageal echocardiography confirmed the mass but did not reveal constrictive physiology. Whole-body contrast computed tomography failed to demonstrate metastatic disease. Biopsy of the cardiac mass revealed epicarditis without parietal pericardium involvement. Partial gastrectomy was performed to remove the gastric adenocarcinoma.
Conclusion:
This is the first reported case of asymptomatic epicarditis. Our case was especially unusual because the epicarditis presented as an incidental cardiac mass. The clinical picture was complicated due to the concomitant presence of gastric adenocarcinoma and chronic pericardial effusion. This case demonstrates that epicarditis should be considered in the differential diagnosis of cardiac masses.
Bilateral Popliteal Artery Entrapment Syndrome: An Approach to Diagnosis and Salvage
Authors: Aman Berry Williams
Journal: Case Rep Vasc Med (2020)
MeSH terms: Case Reports

Popliteal artery entrapment syndrome (PAES) is a rare cause of limb-threatening vascular disease. Usually, it arises from aberrant embryological development or acquired dysfunctionality of the popliteal artery and its surrounding musculotendinous structures in the popliteal fossa. Here, we present a case report of a young woman with relatively sudden-onset short-distance claudication and paraesthesia affecting her right leg primarily. She had no recent traumatic history and no atherosclerotic risk factors and was otherwise previously very active. She had a feeble right popliteal artery pulse and no foot pulses. Nerve conduction studies demonstrated no electrophysiological abnormalities. Following computed tomography angiography and magnetic resonance imaging, it was determined she had type 2 PAES. Subsequently, the patient underwent surgical division of a lateralised head of her medial gastrocnemius, resection of her fibrosed popliteal artery, and repair with a reversed long saphenous vein interposition graft. Following surgery, her symptoms resolved, and she remains on aspirin and ultrasound surveillance.
Clinical Quiz: Reconstructive Strategies in a 5-Month-Old Infant with a Cloaca
Authors: Victoria A Lane, Marc A Levitt
Journal: European J Pediatr Surg Rep (2020)
Keywords: anorectal malformation, cloaca, cloacagram
MeSH terms: Case Reports

Herein we present a case of 5-month-old female born with a cloaca. She underwent a colostomy at birth and then underwent endoscopy and cloacagram to plan for the definitive reconstruction. The case is presented with a focus on the reconstructive strategies, and questions for the readers are posed in a quiz format.
Nystagmus in laurence-moon-biedl syndrome
Authors: A Bruce Janati, Naif Saad ALGhasab, Fazal Haq, Ahmad Abdullah, Aboubaker Osman
Journal: Case Rep Ophthalmol Med (2015)

Introduction. Laurence-Moon-Biedl (LMB) syndrome is a rare autosomal-recessive ciliopathy with manifold symptomatology. The cardinal clinical features include retinitis pigmentosa, obesity, intellectual delay, polydactyly/syndactyly, and hypogenitalism. In this paper, the authors report on three siblings with Laurence-Moon-Biedl syndrome associated with a probable pseudocycloid form of congenital nystagmus. Methods. This was a case study conducted at King Khaled Hospital. Results. The authors assert that the nystagmus in Laurence-Moon-Biedl syndrome is essentially similar to idiopathic motor-defect nystagmus and the nystagmus seen in optic nerve hypoplasia, ocular albinism, and bilateral opacities of the ocular media. Conclusion. The data support the previous hypothesis that there is a common brain stem motor abnormality in sensory-defect and motor-defect nystagmus.
Oral lichen planus in children
Authors: Usha Mohan Das, Beena Jp
Journal: Int J Clin Pediatr Dent (2009)
Keywords: lichen planus, childhood
MeSH terms: Case Reports

Oral lichen planus which is one of the most common oral mucosal diseases in adults, it has been rarely described in children. There are very reports in the literature regarding oral lichen planus in children, here we report a case of intraoral lesions of lichen planus. Lichen planus should be considered in the differential diagnosis of hyperkeratotic or erosive lesions of the oral mucosa in children.
Chemoradiotherapy for Inoperable Carotid Body Leiomyosarcoma: A Case Report and Review of Literature
Authors: Cheng-Sheng Liu, Jia-Ruey Tsai, Yi-Tzu Kao, Long-Sheng Lu, Yin-Ju Chen, Thierry Burnouf, Peng-Yuan Wang, Jeng-Fong Chiou, Lai-Lei Ting
Journal: Front Oncol (2021)
Keywords: carotid body tumor, case report, concurrent chemoradiotherapy, leiomyosarcoma, liquid biopsy
MeSH terms: Case Reports

Vascular leiomyosarcoma is an extremely rare tumor and is associated with poor prognosis among leiomyosarcoma. Surgical resection remains the main treatment option. But outcome of definitive treatment with chemoradiotherapy in inoperable patients is not clear. Here, we report treatment and outcome of definitive chemoradiotherapy in a case of vascular leiomyosarcoma. A 64-year-old man with the initial presentation of pulsatile right neck mass was diagnosed with right carotid body leiomyosarcoma. He refused surgical intervention due to risk of carotid body injury and ischemic stroke. Successful tumor control was achieved with carboplatin-based concurrent chemoradiotherapy. Investigational liquid biopsy for circulating sarcoma cells was also performed to analyze drug sensitivity profile of this rare tumor. One year after treatment, the disease remained well controlled and there was no evidence of baroreflex failure or treatment-related late toxicities. To our best knowledge, this is the first case report of right carotid body leiomyosarcoma controlled with definitive concurrent chemoradiotherapy. The approach of personalized multi-modality treatment will be a focus of our future investigation.
A Case of Gallstones Causing Pelvic Pain
Authors: Aizat Drahman, Kaushi Arulpragasam, Lilach Leibenson, Frank Sardelic
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

Introduction:
Assessing abdominal pain, particularly in women of reproductive age, requires thorough history taking, clinical examination, and investigations to obtain an accurate diagnosis. Both surgical and gynecological causes need to be considered, particularly previous relevant surgical history. Presentation of case. We report a case of pelvic pain secondary to multiple gallstones found within the pelvic cavity postlaparoscopic cholecystectomy. Thorough investigations have been conducted without any obvious cause found. The pain was debilitating and largely affecting the patient's quality of life. Therefore, decision to perform diagnostic laparoscopy and gallstones was found all over pelvic cavity and retrieved. Her pain resolved post operatively.
Conclusions:
Gallbladder perforation and stone spillage are the most common complications of laparoscopic cholecystectomy that arise during the removal and dissection of gallbladder and can cause significant morbidity if not managed early, especially retrieval of the stones intraoperatively. Therefore, patient with history of previous cholecystectomy with stone spillage presenting with undifferentiated abdominal pain and early diagnostic laparoscopy should be considered.
Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland
Authors: Diana A Olszewska, Allan McCarthy, Alexandra I Soto-Beasley, Ronald L Walton, Brian Magennis, Russell L McLaughlin, Orla Hardiman, Owen A Ross, Tim Lynch
Journal: Front Neurol (2020)
Keywords: gba, ireland, parkinson's disease, glucocerebrosidase, sequencing

Multiple studies implicate heterozygous GBA mutations as a major genetic risk factor for Parkinson's disease (PD); however, the frequency of mutations has never been examined in PD patients from the Irish population. We prospectively recruited 314 unrelated Irish PD patients (UK Brain Bank Criteria) and 96 Irish healthy controls (without any signs or family history of parkinsonism) attending. The Dublin Neurological Institute (DNI). Complete exon GBA Sanger sequencing analysis with flanking intronic regions was performed. The GBA carrier frequency was 8.3% in PD and 3.1% in controls. We identified a number of potentially pathogenic mutations including a p.G195E substitution and a p.G377C variant, previously described in a case study of Gaucher's disease in Ireland. On genotype-phenotype assessment hallucinations, dyskinesia, and dystonia were more prevalent in GBA-PD. The genetic etiology of PD in Ireland differs from the continental Europe as seen with the lower LRRK2 and higher than in most European countries GBA mutation frequency. Determining genetic risk factors in different ethnicities will be critical for future personalized therapeutic approach.
Tibial tubercle avulsion fractures in school sports injury: A case report
Authors: Abderrahim Zaizi, Tarik El Yaacoubi, Bouchaib Chafry, Mostapha Boussouga
Journal: Int J Surg Case Rep (2019)
Keywords: avulsion-fracture, knee, sport, tibial tubercle

Introduction:
Most injuries in adolescent occur during school sports like volleyball, football or basketball. Tibial tubercle avulsion fractures (TTAF) are an unusual condition, resulting from a forced extension of the knee opposed to fixed leg.
Presentation of the case:
A 16 years old male was hurt during school basketball, X-rays displayed avulsion fracture of tibial tuberosity of left knee, the treatment was operative using two cancellous screws, results were good including complete knee mobility and early coming back to school sport at 6 months.
Discussion:
TTAF remains rare accounting for <3% of all epiphyseal injuries, it is frequent in teenage boys with open physis during school sport. We review the pathophysiology, mechanism, classification, diagnosis, and management of this injury.
Conclusion:
complications are occasional and functional recuperation is common after closed reduction and cast immobilization for slightly or no displaced fractures, otherwise open reduction and internal fixation for displaced fractures.
The dilemma of antibiotic susceptibility and clinical decision-making in a multi-drug-resistant Pseudomonas aeruginosa bloodstream infection
Authors: Long Chen, Xingyi Qu, Jingqian Su, Haijun Yao, Qiang Yuan, Yu Wang, Nanyang Li, Gang Wu, Xiaofen Liu, Jin Hu, Jing Zhang
Journal: Front Pharmacol (2023)
Keywords: bloodstream infection, multi-drug-resistant pseudomonas aeruginosa, multidisciplinary treatment, pharmacokinetics/pharmacodynamics, therapeutic drug monitoring
MeSH terms: Case Reports

Objective: How to choose the appropriate antibiotics and dosage has always been a difficult issue during the treatment of multi-drug-resistant bacterial infections. Our study aims to resolve this difficulty by introducing our multi-disciplinary treatment (MDT) clinical decision-making scheme based on rigorous interpretation of antibiotic susceptibility tests and precise therapeutic drug monitoring (TDM)-guided dosage adjustment. Method: The treatment course of an elderly patient who developed a multi-drug-resistant Pseudomonas aeruginosa (MDRPA) bloodstream infection from a brain abscess was presented. Results: In the treatment process, ceftazidime-avibactam (CAZ-AVI) was used empirically for treating the infection and clinical symptoms improved. However, the follow-up bacterial susceptibility test showed that the bacteria were resistant to CAZ-AVI. Considering the low fault tolerance of clinical therapy, the treatment was switched to a 1 mg/kg maintenance dose of susceptible polymyxin B, and TDM showed that the AUC24h, ss of 65.5 mgh/L had been achieved. However, clinical symptoms were not improved after 6 days of treatment. Facing the complicated situation, the cooperation of physicians, clinical pharmacologists, and microbiologists was applied, and the treatment finally succeeded with the pathogen eradicated when polymyxin B dose was increased to 1.4 mg/kg, with the AUC24h, ss of 98.6 mgh/L. Conclusion: MDT collaboration on the premise of scientific and standardized drug management is helpful for the recovery process in patients. The empirical judgment of doctors, the medication recommendations from experts in the field of TDM and pharmacokinetics/pharmacodynamics, and the drug susceptibility results provided by the clinical microbiology laboratory all provide the direction of treatment.
Case report: Heterogenous SMARCA4-deficient thoracic non-small cell lung carcinoma with various responses to nivolumab
Authors: Yun-Tzu Lin, Chien-Feng Li, Hung-Chang Wu, Yi-Hua Jan, Yu-Hsuan Kuo
Journal: Front Immunol (2023)
Keywords: brg1, smarca4, swi/snf, check-point inhibitors, lung cancer, nivolumab, non-small cell lung carcinoma
MeSH terms: Carcinoma / genetics, Carcinoma, Non-Small-Cell Lung / drug therapy, Carcinoma, Non-Small-Cell Lung / genetics, Carcinoma, Non-Small-Cell Lung / pathology, Lung Neoplasms / diagnosis, Lung Neoplasms / drug therapy, Lung Neoplasms / genetics, Case Reports, Aged, DNA Helicases / genetics, Humans, Male, Nivolumab / therapeutic use, Nuclear Proteins / genetics, Transcription Factors / genetics, Nivolumab, SMARCA4 protein, human, DNA Helicases, Nuclear Proteins, Transcription Factors

SMARCA4-deficient non-small cell carcinoma is an aggressive neoplasm with poor outcome. Several studies have highlighted its immunochemistry, pathophysiology, and underlying mechanisms, but studies of its definite treatment are few. Here, we report on a 69-year-old male with heterogenous pathological presentations of SMARCA4-deficient non-small cell carcinoma. He initially presented with neck lymphadenopathies. Immunohistochemistry staining and genomic profiling confirmed the diagnosis of SMARCA4-deficient non-small cell carcinoma. The patient responded well to immune checkpoint inhibitors with nivolumab. However, new lesions with various pathological presentations and various responses to nivolumab appeared during the treatment course. The patient survived more than 3 years from the initial diagnosis. This case shows the efficacy of nivolumab to treat SMARCA4-deficient non-small cell lung carcinoma.
Systemic lupus erythematosus presenting with status epilepticus and acute cardiomyopathy with acute heart failure: case report
Authors: H M M T B Herath, Aruna Kulatunga
Journal: Egypt J Neurol Psychiatr Neurosurg (2020)
Keywords: acute cardiomyopathy with heart failure, status epilepticus, systemic lupus erythematosus
MeSH terms: Case Reports

Introduction:
Systemic lupus erythematosus is a connective tissue disorder, which causes complex multi organ involvement. Neurological and cardiac manifestations have been well noted but complications such as status epilepticus and acute myocarditis with heart failure at presentation remains uncommon.
Case description:
A 15-year-old, previously healthy, South Asian, Sri Lankan female presented with status epilepticus and the seizures only responded to intravenous midazolam and thiopentone sodium. On the fourth day, she developed tachycardia and shortness of breath and was found to have cardiomyopathy with heart failure with an ejection fraction 40%. Along with a positive urinary sediment, a positive ANA with a very high level of ds-DNA and low C3 and C4 levels confirmed our suspicion of systemic lupus erythematosus.
Discussion and evaluation:
Systemic lupus erythematosus presents in a variety of clinical presentations and the spectrum may range from unique to ubiquitous. Clinicians should have a high index of suspicion specially when encountering atypical presentations with multi-organ involvement, especially when patients tend to be young females. Status epilepticus and myocarditis are uncommon manifestations of systemic lupus erythematosus, and should be appreciated early, as if inappropriately managed would have a deleterious impact on mortality and morbidity.
Case Report: A Case Series of Immunobiological Therapy (Anti-TNF-α) for Patients With Erythema Nodosum Leprosum
Authors: Ana Flávia Moura Mendes, Ciro Martins Gomes, Patrícia Shu Kurizky, Mayra Ianhez
Journal: Front Med (Lausanne) (2022)
Keywords: autoimmunity, dermatology, immunosuppression therapy, leprosy, leprosy reaction
MeSH terms: Case Reports

Patients with leprosy may experience a chronic and severe type II leprosy reaction (ENL) erythema nodosum leprosum that may not respond to thalidomide and systemic immunosuppressants or may even cause serious adverse events. We here present four patients in whom anti-TNF-α therapy was used with successful results and compare our findings with other published cases. Four patients with chronic and severe ENL who did not respond to, at least, thalidomide and steroids (high doses) were followed up at two reference centers in Brazil. A thorough laboratory investigation was performed to exclude tuberculosis and other diseases before the start of immunobiological medication. Three patients were started on etanercept, and one patient was started on adalimumab. Of all patients, three developed severe adverse events resulting from the use of classical immunosuppressants for ENL (cataracts, deep vein thrombosis, diabetes, and osteoporosis). In all cases, a reduction in the number of ENL and, at least half of the immunosuppressant dose between 6 months and 2 years, were observed. Long-term follow-up of one patient revealed a dramatic reduction in hospital admissions due to ENL, from 12 instances in 1 year (before biologic therapy) to none (after biologic therapy), along with an improvement in condyloma acuminatum. In addition, no direct adverse events were observed with biologics. Treatment with anti-TNF-α therapy may be used as an alternative in patients with chronic and severe ENL who do not respond to traditional treatment (e.g., thalidomide, steroids, and other immunosuppressants). This treatment can help reduce the frequency of ENL, the immunosuppressive burden, and the number of hospital admissions.
Rhabdomyolysis Related to Red Yeast Rice Ingestion
Authors: Sara Santos, Sara Gomes, Inês Carvalho, Inês Bonito, Célia Carmo
Journal: Cureus (2023)
Keywords: dyslipidemia, monacolin k, red yeast rice, rhabdomyolysis, statin
MeSH terms: Case Reports

Red yeast rice is made by fermenting white rice with the fungus Monascus purpureus. It has lipid-lowering effects due to the presence of monacolin, produced by the fungus, and therefore shares the same biological and side effects as a statin, namely it may cause rhabdomyolysis. In this clinical case study, we report the case of a 50-year-old woman suffering from a sudden onset of chest discomfort and generalized myalgia. Laboratory findings were consistent with the diagnosis of rhabdomyolysis. The patient had been recently diagnosed with dyslipidemia in primary care, and decided to start eating red yeast rice, without informing clinicians. Clinical improvement was rapidly noticed after hydration, and blood sample results returned to normal. Awareness should be raised for the regulation of these products, as their consumption is rising, and patients are unaware of their potential side effects.
When a Dead Patient Is Not Really Dead: Lazarus Phenomenon
Authors: Munish Sharma, Megha Chandna, Thang Nguyen, Abhay Vakil, Rene Franco Jr, Iqbal Ratnani, Joseph Varon, Salim Surani
Journal: Case Rep Crit Care (2020)
MeSH terms: Case Reports

Lazarus phenomenon refers to autoresuscitation of a patient declared dead after cessation of cardiopulmonary resuscitation (CPR). The Lazarus phenomenon is rarely encountered and pathophysiology is not very well understood, but physicians need to be aware of this phenomenon. It is prudent that a physician leading a CPR effort waits for some time and monitors the patient further using blood pressure and electrocardiogram before confirming that a patient is actually dead.
Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review
Authors: Emiy Yokoyama, Camilo E Villarroel, Sinhué Diaz, Victoria Del Castillo, Patricia Pérez-Vera, Consuelo Salas, Samuel Gómez, Reneé Barreda, Bertha Molina, Sara Frias
Journal: Mol Cytogenet (2020)
Keywords: 1p36 deletion, duane retraction syndrome, hes3 gene haploinsufficiency
MeSH terms: Case Reports

Background:
Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the deletion is proximal, beyond the 1p36.32 region. In patients with proximal deletions, little is known about the associated phenotype, since only a few cases have been reported in the literature. Ocular manifestations in patients with classical 1p36 monosomy are frequent and include strabismus, myopia, hypermetropia, and nystagmus. However, as of today only one patient with 1p36 deletion and Duane retraction syndrome (DRS) has been reported.
Case presentation:
We describe a patient with intellectual disability, facial dysmorphism, and bilateral Duane retraction syndrome (DRS) type 1. Array CGH showed a 7.2 Mb de novo deletion from 1p36.31 to 1p36.21.
Discussion:
Our patient displayed DRS, which is not part of the classical phenotype and is not a common clinical feature in 1p36 deletion syndrome; we hypothesized that this could be associated with the overlapping deletion between the distal and proximal 1p36 regions. DRS is one of the Congenital Cranial Dysinnervation Disorders, and a genetic basis for the syndrome has been extensively reported. The HES3 gene is located at 1p36.31 and could be associated with oculomotor alterations, including DRS, since this gene is involved in the development of the 3rd cranial nerve and the 6th cranial nerve's nucleus. We propose that oculomotor anomalies, including DRS, could be related to proximal 1p36 deletion, warranting a detailed ophthalmologic evaluation of these patients.
Torsades De Pointes Electrical Storm Induced by H1N1 in a Patient with KCNH2 Variant of Unknown Significance
Authors: Bashar Khiatah, Jonathan Dukes, Christina Desai, Amanda Frugoli
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

This report describes a case of an electrical storm of Torsades De Pointes in a structurally normal heart, following an H1N1 infection in the presence of a genetic variant of unknown significance. The patient was successfully treated with isoproterenol. This case highlights the dilemma of evaluating novel genetic testing results in a clinical setting.