OpenMed/multicare-articles huggingface dataset:
Papillary Fibroelastoma of the Ascending Aorta
Authors: Karim M Al-Azizi, Mohanad Hamandi, Ronald Baxter, Anita Krueger, Alexander W Crawford, Michael William, Christopher Good, Nicolas Mead
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: ascending aorta, papillary fibroelastomas
MeSH terms: Aorta / pathology, Fibroma / diagnosis, Heart Neoplasms / diagnosis, Stroke / etiology, Case Reports, Aged, Aorta / diagnostic imaging, Echocardiography, Transesophageal, Female, Humans, Tomography, X-Ray Computed

Papillary fibroelastomas are rare benign primary cardiac tumors. They are typically found on valvular surfaces, most commonly, the aortic valve. In this article, we report a case of papillary fibroelastoma arising from the sinotubular junction of the ascending aorta, a rare and unusual site causing an embolic stroke.
Back pain as an initial feature of advanced gastric cancer mimicking multiple myeloma: A case report and literature review
Authors: Fateen Ata, Zohaib Yousaf, Bilal N Al Kalaji, Anas A Ashour, Mohamad Fael, Gi Eun Kim, Ammara Bint I Bilal, Orwa Elaiwy, Akhnuwkh Jones
Journal: Qatar Med J (2022)
Keywords: back pain, gastric cancer, metastatic malignancy, multiple myeloma

Background:
Back pain is a rare initial presentation of gastric cancer. Isolated back pain with red flags in middle-aged patients might indicate multiple myeloma. However, it is rarely present in advanced gastric adenocarcinoma; hence, data are limited to case reports only. For a timely diagnosis of the underlying malignancy, endoscopy should be considered if the initial workup for this backache is unrevealing.
Case presentation:
We present a 34-year-old previously healthy gentleman with severe unremitting backache. He was ultimately diagnosed with gastric adenocarcinoma stage IV and received palliative treatment. The manuscript also reviewed relevant literature.
Conclusion:
In rare cases, gastric malignancy can initially present as back pain with lytic bone lesions, mimicking multiple myeloma. Endoscopy early in the course of investigations may help reduce associated morbidities. Further, more extensive studies are required to understand better the clinical characteristics, demographics, and management of such patients.
A concealed history behind the disaster: Extremely rare presentations of metformin toxicity in a patient with body dysmorphic disorder
Authors: Shokoufeh Hajsadeghi, Milad Gholizadeh Mesgarha, Arash Pour Mohammad, Ali Saberi Shahrbabaki, Aisa Talebi
Journal: Toxicol Rep (2022)
Keywords: acute kidney injury, biguanide, body dysmorphic disorder, cardiogenic shock, hyperlactatemia, hyponatremia, intoxication, lactic acidosis, megaloblastic anemia, metabolic acidosis, metformin, neuropathy, pancytopenia, toxicity
MeSH terms: Case Reports

Metformin is a widely used anti-hyperglycemic agent with weight loss effect properties but besides its various utilities, despite being very rare, it has its characteristic toxicity and adverse effects when used in large doses and for the long-term or in patients with renal impairment. We presented here a case of a 36-year-old woman who developed several presentations with diverse features during three years comprising neuropathic symptoms, severe lactic acidosis, three episodes of cardiogenic shock, acute kidney injury, megaloblastic anemia, pancytopenia, and hyponatremia and did not receive a definite diagnosis after each presentation until when she inadvertently disclosed her abuse of extremely unusual doses of metformin during these three years with aim of weight reduction obsessively without knowing that her symptoms could pertain to metformin overdose. She was eventually diagnosed with a body dysmorphic disorder which led to unreasonable abuse of metformin pills that consequently caused its toxicity. Thereafter, with cease of metformin use and psychiatric treatment, her symptoms did not recur and she was doing well after one year of her last admission. Based on the review of the literature, this is the first case of metformin toxicity in a patient with body dysmorphic disorder who was affected with extremely rare features of this intoxication, nevertheless, every manifestation of the patient was discussed exhaustively according to the current and available medical literature.
Iatrogenic Femoral Arteriovenous Fistula with Pseudoaneurysm Associated with Worsening Heart Failure Years after Percutaneous Impella Placement
Authors: Andy Y Wang, Ali Al Jabri, Edward R Jewell, Angela L Jellison
Journal: Case Rep Vasc Med (2022)
MeSH terms: Case Reports

Iatrogenic arteriovenous fistulas (AVFs) and pseudoaneurysms (PSAs) are rare complications that may develop years after vascular access, and high-volume flow through these AVFs have been hypothesized to contribute to chronic heart failure. Formation of an AVF or PSA following Impella placement has rarely been described in the literature. Here, we describe a patient who had percutaneous placement of an Impella ventricular assist device through his right groin three years prior, now presenting with worsening heart failure and symptoms of volume overload. He was discovered to have a new, high-flow common femoral artery to femoral vein AVF with an associated PSA. The AVF and associated PSA were resected and repaired. This case study highlights a rare access-site complication from percutaneous Impella placement associated with worsening heart failure, strategies for preventing this complication during peripheral access, and the need to consider this differential in such a patient with a history of peripheral access who has an unexplained worsening of heart failure.
Acute Kidney Injury Associated With Cholera
Authors: Anass Qasem, Syed Arman Rabbani
Journal: Cureus (2023)
Keywords: acute kidney injury, cholera, gastroenteritis, infectious disease, united arab emirates
MeSH terms: Case Reports

Cholera is an acute infectious disease caused by Vibrio cholerae. Its clinical course varies from mild diarrhea to severe complications with hypokalemia, hyponatremia or hypernatremia, hypocalcemia, metabolic acidosis, and acute kidney injury. This is a case of a 20-year-old Asian man with recent travel history from Bangladesh who presented to the emergency department with abdominal pain and multiple episodes of watery diarrhea. He developed acute renal failure secondary to severe gastroenteritis, the cause of which was later confirmed to be cholera.
Extrapontine myelinolysis-induced parkinsonism in a patient with adrenal crisis
Authors: Yahia Z Imam, Maher Saqqur, Hassan Alhail, Dirk Deleu
Journal: Case Rep Neurol Med (2012)

Background. Extrapontine myelinolysis (EPM) has been well described in the presence of rapid correction of hyponatremia. It is seldom reported with adrenal insufficiency. We report a unique case where a patient developed EPM as a result of adrenal insufficiency where the brain MRI revealed symmetrical lesion in the basal ganglia with pallidal sparing. Case Report. A 30-year-old gentleman with panhypopituitarism developed adrenal crisis, hyponatremia, and hyponatremic encephalopathy. Seven days after the rapid correction of hyponatremia, he developed parkinsonism and neuropsychiatric symptoms. MRI showed extrapontine myelinolysis without central pontine myelinolysis. Conclusion. Extrapontine myelinolysis without central pontine myelinolysis is rare and should raise a concern of associated adrenal insufficiency in the right clinical setting. Rapid correction of hyponatremia particularly in steroid-deficient states should be avoided as it can predispose to extrapontine myelinolysis. Magnetic resonance imaging is very helpful in supporting the diagnosis of EPM.
Cytopathologic, histopathologic, and immunohistochemical features of intrahepatic clear cell bile duct adenoma: a case report and review of the literature
Authors: William W Wu, Mai Gu, Di Lu
Journal: Case Rep Pathol (2014)

Intrahepatic clear cell bile duct adenoma is extremely rare, with only 3 previous cases reported in the literature. The cause of cytoplasmic clearing in clear cell bile duct adenoma has not been previously investigated. Distinguishing clear cell bile duct adenoma from other clear cell tumors, particularly clear cell cholangiocarcinoma, can be challenging. Previous studies have shown loss of CD10 expression and focal CD56 expression in cholangiocarcinoma. Expressions of CD10 and CD56 have not been previously studied in clear cell bile duct adenoma. A 37-year-old morbidly obese woman was diagnosed with a 2.8 cm intrahepatic clear cell bile duct adenoma following segmental hepatic resection. Histochemical analysis of the tumor suggested the cause of cytoplasmic clearing in the neoplastic cells to be mucin and not glycogen or lipid. On immunohistochemical staining, the neoplastic cells demonstrated staining for CK7, CA 19-9, polyclonal CEA, CD10 (apical), CD56 (focal), and vimentin. Ki-67 highlighted less than 2% of tumor cell nuclei. This is the first report to study the etiology of cell clearing in clear cell bile duct adenoma. Expression of CD10 in clear cell bile duct adenoma may help distinguish clear cell bile duct adenoma from clear cell cholangiocarcinoma.
KCNQ2-Neonatal Epileptic Encephalopathy Complicated by Ventricular Tachycardia: A Case Report
Authors: Yuehang Geng, Xinlin Hou
Journal: Front Neurol (2020)
Keywords: kcnq2, arrhythmia, epilepsy, neonatal epileptic encephalopathy, ventricular tachycardia
MeSH terms: Case Reports

Introduction: Mutations in KCNQ2 are related to a spectrum of neonatal epileptic phenotypes. Here we report a case of KCNQ2-related neonatal epileptic encephalopathy (KCNQ2-NEE) that is complicated by an incidentally found ventricular tachycardia. Case Presentation: An infant boy presented with very early onset refractory focal tonic seizures and developmental delay, and was diagnosed with epilepsy. Trio-whole exome sequencing identified a previously reported de novo mutation in KCNQ2 [c.794C>T; p. (Ala265Val)], a known pathogenic variant for KCNQ2-NEE. Interestingly, ventricular tachycardia was incidentally found on electrocardiography. Conclusions: We here suggest the possibility of a potential electrophysiologic link between the two phenotypes and that they may be attributable to the same de novo mutation.
Interventional treatment of basilar trunk artery aneurysms associated with situs inversus totalis: A case report
Authors: Tianlin Long, Quanhua Xu, Xu Chen, Yan Ma, Yuanjian He, Jia Rao
Journal: Front Surg (2022)
Keywords: angiography, basilar trunk artery aneurysms, clinical cases, interventional treatment, situs inversus totalis
MeSH terms: Case Reports

Basilar trunk artery aneurysm (BTAA) has an overall low incidence in intracranial aneurysm, but its rupture is associated with high morbidity and mortality in older people. Situs inversus totalis (SIT) is a rare congenital abnormality characterized by visceral rotation and vascular abnormalities. It has been described in several uncommonly clinical cases, along with middle cerebral artery aneurysms and large carotid cavernous aneurysms. However, the association between interventional embolization for BTAA and SIT has not been reported. We described the angiography findings and interventional treatment of the association of BTAA with SIT.
Don't be afraid of black holes: Vacuum sponge and vacuum stent treatment of leaks in the upper GI tract-a case series and mini-review
Authors: Christian Schäfer
Journal: Front Surg (2023)
Keywords: otsc (over-the-scope clip), anastomotic leak (al), csems, endoscopic vacuum therapy (evt), esophageal leak, esophageal stricture
MeSH terms: Review

The treatment of leaks in the upper gastrointestinal tract has been revolutionized by the advent of covered self-expanding metal stents (cSEMS), endoscopic vacuum therapy (EVT), and recently, vacuum stent therapy (VST). In this retrospective study, we report the experiences with EVT and VST at our institution.
Patients and methods:
Twenty-two patients (15 male, 7 female) with leaks in the esophagus, at the esophago-gastric junction or anastomotic leaks underwent EVT by placing a sponge connected to a negative pressure pump into or near the leak. VST was applied in three patients.
Results:
EVT led to closure of the leak in 18 of 22 Patients (82%). In 9 patients (41%), EVT was followed by application of a cSEMS. One patient (5%) died during the hospital stay due to an aorto-esophageal fistula near the leak, four others (18%) due to underlying disease. The stricture rate was 3/22 (14%). All three patients in whom VST was applied had closure of the leak and recovered. Reviewing the literature, we identified sixteen retrospective series of ten or more patients (n = 610) with an overall closure rate for EVT of 84%. In eight additional retrospective observations, a comparison between the efficacy of EVT and cSEMS therapy was performed that revealed a success rate of 89% and 69%, respectively (difference not significant, chi-square test). For VST, two small series show that closure is possible in the majority of patients.
Conclusion:
EVT and VST are valuable options in the treatment of leaks in the upper gastrointestinal tract.
Recurrent Osteomyelitis Caused by Mycobacterium abscessus Necessitating Surgical Decompression and Revision Surgery With Interbody Fusion
Authors: Malek Bashti, Vignessh Kumar, Ian Cote, Eric C Peterson, Gregory W Basil
Journal: Cureus (2023)
Keywords: abscessus, atypical, epidural abscess, mycobacterium, revision surgery
MeSH terms: Case Reports

Epidural abscesses can be caused by a number of different organisms, including atypical Mycobacterium. This is a rare case report of an atypical Mycobacterium epidural abscess requiring surgical decompression. Here, we present Mycobacterium abscessus causing a nonpurulent epidural collection surgically treated with laminectomy and washout and discuss clinical clues and radiologic characteristics associated with this condition. A 51-year-old male with a past medical history of chronic intravenous (IV) drug use presented with a three-day history of falls and three-month history of progressively worsening bilateral lower extremity radiculopathy, paresthesias, and numbness. MRI demonstrated an enhancing collection at L2-3 ventral and to the left of the spinal canal causing severe compression of the thecal sac, along with heterogenous contrast enhancement of the L2-3 vertebral bodies and intervertebral disc. The patient was taken for an L2-3 laminectomy and left medial facetectomy, where a fibrous, nonpurulent mass was discovered. Cultures ultimately demonstrated Mycobacterium abscessus subspecies massiliense, and the patient was discharged on IV levofloxacin, azithromycin, and linezolid with complete symptomatic relief. Unfortunately, despite surgical washout and antibiotic coverage, the patient presented twice more, the first time with a recurrent epidural collection requiring repeat drainage and the second time with a recurrent epidural collection with discitis and osteomyelitis with pars fractures requiring repeat epidural drainage and interbody fusion. It is important to recognize that atypical Mycobacterium abscessus can cause a nonpurulent epidural collection, especially in high-risk patients such as those with a history of chronic IV drug use. Additionally, our initial intraoperative findings of a fibrous, adherent mass suggest that in cases where this entity is suspected, surgical decompression should be carefully considered. To this end, the radiologic findings associated with this condition, namely, an enhancing ventral epidural mass involving the disc space, should also be recognized. The notable postoperative course consisting of recurrent collections and osteomyelitis with a pars fracture suggests that early fusion should be considered as an option in these patients. This case report presents clinical and radiologic findings associated with an atypical Mycobacterium discitis and osteomyelitis. The clinical course described herein suggests that early fusion in these patients may provide superior results to decompression alone.
Treatment of COVID-19 With Conestat Alfa, a Regulator of the Complement, Contact Activation and Kallikrein-Kinin System
Authors: Pascal Urwyler, Stephan Moser, Panteleimon Charitos, Ingmar A F M Heijnen, Melanie Rudin, Gregor Sommer, Bruno M Giannetti, Stefano Bassetti, Parham Sendi, Marten Trendelenburg, Michael Osthoff
Journal: Front Immunol (2020)
Keywords: c1 esterase inhibitor, covid-19, sars-cov-2, complement system, contact activation system, inflammation, kallikrein-kinin system
MeSH terms: Betacoronavirus / drug effects, Complement C1 / antagonists & inhibitors, Complement C1 Inhibitor Protein / therapeutic use, Coronavirus Infections / drug therapy, Cytokine Release Syndrome / drug therapy, Kallikrein-Kinin System / drug effects, Pneumonia, Viral / drug therapy, Aged, Aged, 80 and over, COVID-19, Complement C1 Inhibitor Protein / analysis, Factor XIa / antagonists & inhibitors, Female, Humans, Kallikreins / antagonists & inhibitors, Male, Middle Aged, Pandemics, Recombinant Proteins / therapeutic use, SARS-CoV-2, Viral Load / drug effects, Complement C1, Complement C1 Inhibitor Protein, Recombinant Proteins, SERPING1 protein, human, conestat alfa, Kallikreins, Factor XIa

A dysregulated immune response with hyperinflammation is observed in patients with severe coronavirus disease 2019 (COVID-19). The aim of the present study was to assess the safety and potential benefits of human recombinant C1 esterase inhibitor (conestat alfa), a complement, contact activation and kallikrein-kinin system regulator, in severe COVID-19. Patients with evidence of progressive disease after 24 h including an oxygen saturation <93% at rest in ambient air were included at the University Hospital Basel, Switzerland in April 2020. Conestat alfa was administered by intravenous injections of 8400 IU followed by 3 additional doses of 4200 IU in 12-h intervals. Five patients (age range, 53-85 years; one woman) with severe COVID-19 pneumonia (11-39% lung involvement on computed tomography scan of the chest) were treated a median of 1 day (range 1-7 days) after admission. Treatment was well-tolerated. Immediate defervescence occurred, and inflammatory markers and oxygen supplementation decreased or stabilized in 4 patients (e.g., median C-reactive protein 203 (range 31-235) mg/L before vs. 32 (12-72) mg/L on day 5). Only one patient required mechanical ventilation. All patients recovered. C1INH concentrations were elevated before conestat alfa treatment. Levels of complement activation products declined after treatment. Viral loads in nasopharyngeal swabs declined in 4 patients. In this uncontrolled case series, targeting multiple inflammatory cascades by conestat alfa was safe and associated with clinical improvements in the majority of severe COVID-19 patients. Controlled clinical trials are needed to assess its safety and efficacy in preventing disease progression.
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis
Authors: Rosemary Ekong, Mark Nellist, Marianne Hoogeveen-Westerveld, Marjolein Wentink, Jessica Panzer, Steven Sparagana, Warren Emmett, Natalie L Dawson, Marie Claire Malinge, Rima Nabbout, Caterina Carbonara, Marco Barberis, Sergio Padovan, Marta Futema, Vincent Plagnol, Steve E Humphries, Nicola Migone, Sue Povey
Journal: Hum Mutat (2016)
Keywords: tsc2, alternative splicing, diagnosis, tuberous sclerosis, variants
MeSH terms: Exons, Genetic Association Studies, Mutation, Tuberous Sclerosis / diagnosis, Tuberous Sclerosis / genetics, Tumor Suppressor Proteins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Alleles, Alternative Splicing, Child, Child, Preschool, Computational Biology / methods, Databases, Genetic, Gene Expression, Genetic Variation, Humans, Phenotype, Tuberous Sclerosis Complex 2 Protein, TSC2 protein, human, Tuberous Sclerosis Complex 2 Protein, Tumor Suppressor Proteins

Inactivating mutations in TSC1 and TSC2 cause tuberous sclerosis complex (TSC). The 2012 international consensus meeting on TSC diagnosis and management agreed that the identification of a pathogenic TSC1 or TSC2 variant establishes a diagnosis of TSC, even in the absence of clinical signs. However, exons 25 and 31 of TSC2 are subject to alternative splicing. No variants causing clinically diagnosed TSC have been reported in these exons, raising the possibility that such variants would not cause TSC. We present truncating and in-frame variants in exons 25 and 31 in three individuals unlikely to fulfil TSC diagnostic criteria and examine the importance of these exons in TSC using different approaches. Amino acid conservation analysis suggests significantly less conservation in these exons compared with the majority of TSC2 exons, and TSC2 expression data demonstrates that the majority of TSC2 transcripts lack exons 25 and/or 31 in many human adult tissues. In vitro assay of both exons shows that neither exon is essential for TSC complex function. Our evidence suggests that variants in TSC2 exons 25 or 31 are very unlikely to cause classical TSC, although a role for these exons in tissue/stage specific development cannot be excluded.
What would be the impact of COVID-19 on liver function of a patient with chronic hepatitis B? About a case and literature review
Authors: Khoury M'bodj, Hakima Abid, Najdi Adil, Mohammed El Abkari, Nourdin Aqodad
Journal: Pan Afr Med J (2021)
Keywords: sars-cov-2, case report, hepatitis b, liver function
MeSH terms: Antiviral Agents / administration & dosage, COVID-19 / complications, Hepatitis B, Chronic / physiopathology, Case Reports, Review, Adult, Azithromycin / administration & dosage, COVID-19 / diagnosis, COVID-19 Drug Treatment, Hepatitis B, Chronic / drug therapy, Hospitals, University, Humans, Hydroxychloroquine / administration & dosage, Liver Function Tests, Male, Morocco, Tenofovir / administration & dosage, Antiviral Agents, Hydroxychloroquine, Azithromycin, Tenofovir

Liver damage during COVID-19 disease has been described in numerous studies. Its mechanism is poorly understood. It is mainly reserved for severe forms and is manifested by abnormalities of the hepatic assessment and more particularly cytolysis. Particular attention must be paid to patients with chronic liver disease, both in terms of follow-up and treatment. We wanted to know the evolution of COVID-19 and its treatment, on the liver function of a 27-year-old patient followed for chronic non-cirrhotic hepatitis B at the Hassan II University Hospital in Fez. Our patient had stopped the antiviral B treatment and presented COVID-19 infection with minimal to moderate impairment. The initial evaluation showed cytolysis at 4 times upper limit of normal (ULN). Management consisted in the immediate resumption of Tenofovir in combination with hydroxychloroquine (HCQ) and azythromycin with good clinical and biological evolution.