OpenMed/multicare-articles huggingface dataset:
Long-Segment Epidural Hemorrhage of the Cervical and Dorsal Spine: A Case Report of a Rare Complication of Dengue Virus Disease
Authors: Chandrashekar Patil, Akhila Bandaru, Rohit Bandari, Mahesh Kumar, Prashanth Kumar
Journal: Cureus (2023)
Keywords: dengue, epidural hemorrhage, gradient echo, magnetic resonance imaging ( mri), quadriparesis
MeSH terms: Case Reports

Dengue hemorrhagic fever is a severe form of dengue virus disease, characterized by minor to major bleeding, thrombocytopenia, and plasma leakage. Common hemorrhagic manifestations include epistaxis, gum bleeding, gastrointestinal bleeding, hypermenorrhea, and hematuria. Intracranial hemorrhage is one of the most fatal manifestations of central nervous system involvement by dengue disease which is a part of the expanded dengue syndrome. Here we present a case of A 37-year-old male patient who presented with complaints of intermittent high-grade fever and generalized weakness four days prior to consultation. Laboratory investigations revealed mild thrombocytopenia and positive dengue serology. Magnetic resonance imaging of the brain and spine revealed mild diffuse subarachnoid hemorrhage in bilateral parieto-occipital lobes with long segment cervical and dorsal spinal epidural hemorrhage.
Bladder wall and surrounding tissue necrosis following bilateral superselective embolization of internal iliac artery branches due to uncontrollable haematuria related to bladder tumor: case report
Authors: Andrey Tarkhanov, Gabriel Bartal, Sergey Druzhin, Rafael Shakhbazyan, Evgenii Grebenev, Maxim Kartashov
Journal: CVIR Endovasc (2018)
Keywords: bladder malignancies, bladder tumor embolization, embolization particles, lower urinary tract bleeding

Background:
Case of urinary bladder wall and surrounding tissue necrosis following bilateral superselective embolization of internal iliac artery branches due to unmanageable haematuria associated with aggressive bladder tumor.
Case:
We achieved the bleeding control, but patient demonstrated severe postembolization syndrome at follow-up (low abdominal pain, arterial hypertension, hyperthermia). Severe bladder tissue and surrounding neoplastic tissue necrosis developed several days after procedure. Patient died from multiple organ dysfunction syndrome due to longstanding peritonitis.
Conclusions:
Tumor ischemia and bladder wall and surrounding tissue necrosis, are possible serious complications ofembolization using calibrated microspheres. These complications can be very dangerous, and even fatal.
Gastrojejunal Anastomosis Perforation after Gastric Bypass on a Patient with Underlying Pancreatic Cancer: A Case Report and Review of the Literature
Authors: Omar Bellorin, Anna Kundel, Alexander Ramirez-Valderrama, Armando Castro
Journal: Case Rep Surg (2015)

Introduction. We describe a case of gastrojejunal anastomosis perforation after gastric bypass on a patient with underlying pancreatic cancer. Case Description. A 54-year-old female with past surgical history of gastric bypass for morbid obesity and recent diagnosis of unresectable pancreatic cancer presents with abdominal pain, peritonitis, and sepsis. Computerized axial tomography scan shows large amount of intraperitoneal free air. The gastric remnant is markedly distended and a large pancreatic head mass is seen. Intraoperative findings were consistent with a perforated ulcer located at the gastrojejunal anastomosis and a distended gastric remnant caused by a pancreatic mass invading and obstructing the second portion of the duodenum. The gastrojejunal perforation was repaired using an omental patch. A gastrostomy for decompression of the remnant was also performed. The patient had a satisfactory postoperative period and was discharged on day 7. Discussion. Perforation of the gastrojejunal anastomosis after Roux-en-Y gastric bypass is an unusual complication. There is no correlation between the perforation and the presence of pancreatic cancer. They represent two different conditions that coexisted. The presence of a gastrojejunal perforation made the surgeon aware of the advanced stage of the pancreatic cancer.
A neglected case of giant synovial chondromatosis in knee joint
Authors: Sancar Serbest, Ugur Tiftikçi, Fatih Karaaslan, Haci Bayram Tosun, Hüseyin Fatih Sevinç, Mahi Balci
Journal: Pan Afr Med J (2015)
Keywords: synovial chondromatosis, giant, knee joint, loose body, surgery
MeSH terms: Chondromatosis, Synovial / pathology, Debridement / methods, Knee Joint / pathology, Case Reports, Aged, Chondromatosis, Synovial / surgery, Humans, Knee Joint / surgery, Male, Synovectomy

Synovial chondromatosis is a rare benign condition arising from the synovial membrane of the joints, synovial sheaths or bursae around the joints. Primary synovial chondromatosis typically affects the large joints in the third to fifth decade of life. The purpose of this case report is to document this rare synovial pathology, which required open synovectomy and debridement to eradicate it. In our case, the biggest sized SOC was 20x19x6 cm, although there were many joint mice. Our case had the biggest SOC ever extracted, which to the best of my knowledge has not been reported earlier.
Benign Neurofibroma/Schwannoma Hybrid Peripheral Nerve Sheath Tumor of the Ulnar Nerve Harboring a Metastatic Papillary Thyroid Carcinoma Deposit: A Case Report of Tumor-to-Tumor Metastasis
Authors: Juan M Colazo, Alexander N Perez, Anthony D Judice, Julia Quirion, Carlos N Prieto-Granada, Ginger E Holt
Journal: Case Rep Pathol (2022)
MeSH terms: Case Reports

A 74-year-old man with a medical history significant for papillary thyroid cancer (PTC) presented with a rapidly enlarging grape-sized mass in his right medial arm with paresthesia in the ulnar nerve distribution. Imaging was suspicious for a peripheral nerve sheath tumor (PNST), but an ultrasound-guided biopsy was equivocal. The mass was excised with final histopathology demonstrating a benign neurofibroma/schwannoma hybrid nerve sheath tumor (N/S HNST) harboring a metastatic PTC deposit, ultimately mimicking the rare glandular schwannoma subtype. Next-generation sequencing (NGS) of the lesion demonstrated somatic variants in BRAF and TERT (common in PTC) and NF2 (common in PNSTs). After excision, the patient's nerve symptoms improved. A postsurgical PET/CT scan also showed progression in the lungs/mediastinum. Due to the metastatic nature of his PTC, he was treated with 14 mg of Lenvima (lenvatinib) daily, and his PET/CT surveillance was performed at more frequent intervals. Tumor-to-tumor metastasis (TTM) is a rare occurrence. To our knowledge, this is the first case reported on PTC metastasizing into a benign (hybrid) PNST, which mimicked glandular schwannoma. Symptomatology, imaging characteristics, NGS, and histopathological characteristics that can decipher between different benign PNST subtypes (schwannoma, neurofibroma, glandular, hybrid, etc.), malignant PNSTs (MPNSTs), and TTM are described.
The Floating Acromion: A Rare and Previously Unreported Injury Possibly Requiring Surgical Stabilization
Authors: Simone J M Stoots, Robert J Derksen
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Acromion fractures are increasingly seen as a postoperative complication following reversed shoulder arthroplasty. However, traumatic fractures of the acromion, usually caused by direct trauma, are rare. Therefore, the current literature lacks standardized clinical guidelines regarding the surgical treatment of these kinds of fractures. We present a traumatic acromion fracture and concomitant distal clavicle fracture, resulting in a so-called "floating acromion." A fifty-four-year-old female patient was presented at the Emergency Department following a fall from the stairs. She complained of severe pain in the left shoulder. Radiographic evaluation of the left shoulder revealed an acromion fracture and concomitant distal clavicle fracture. Initially, since there was no dislocation, this "floating acromion" was treated conservatively. However, after 4 weeks, no improvement in pain was seen and a control CT scan revealed no callus formation. Considering the possibility that this could be a biomechanically unstable injury, together with the persistent severe pain, it was decided to proceed with surgical treatment. A lateral clavicle plate was used to stabilize the acromion fracture. Postoperatively, the patient was provided with a sling. She was regularly seen at the outpatient clinic. After two weeks of circumduction exercises, she was allowed to build up active movement under the supervision of a shoulder physiotherapist. Nevertheless, she developed a frozen shoulder. However, our patient fully recovered with complete restoration of shoulder function. Therefore, for operative management of acromion fractures, we suggest the use of a lateral clavicle plate which fits remarkably well on the lateral spine and acromion.
A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism
Authors: Rafiqua Ben El Haj, Wafaa Regragui, Rachid Tazi-Ahnini, Asmae Skalli, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Ahmed Bouhouche
Journal: Biomed Res Int (2016)
MeSH terms: Mutation, Parkinson Disease / genetics, Protein Kinases / genetics, Case Reports, Amino Acid Motifs, Chromosomes / ultrastructure, Cognition Disorders / genetics, Computational Biology, Disease Progression, Exons, Homozygote, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics, Levodopa / therapeutic use, Male, Middle Aged, Morocco, Mutation, Missense, Oligonucleotide Array Sequence Analysis, Parkinson Disease / drug therapy, Pedigree, Phenotype, Protein Domains, Sequence Analysis, DNA, Levodopa, Protein Kinases, LRRK2 protein, human, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, PTEN-induced putative kinase

Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. Ten of fifteen causative genes linked to familial forms of PD have been reported to cause autosomal recessive forms. Among them, mutations in the PTEN-induced kinase 1 (PINK1) gene were shown to be responsible for a phenotype characterized by early onset, good response to levodopa, and a benign course. Using chromosomal microarray analysis and Sanger sequencing, we identified a homozygous G/C substitution in a 58-year-old Moroccan man diagnosed with recessive inherited Parkinson's disease. This G-to-C transition occurred at position 1617 leading to an amino acid change L/F at position 539 located in highly conserved motif in the C terminal sequence of PINK1. Interestingly, the c.1617G>C substitution is absent in 192 ethnically matched control chromosomes. Our findings have shown that the p.L539F is a novel mutation located in the C terminal sequence of the PINK1 protein that could be pathogenic and responsible for a clinical phenotype resembling idiopathic Parkinson's disease with rapid progression and early cognitive impairment.
"First in Man": Case Report of Selective C-Reactive Protein Apheresis in a Patient with Acute ST Segment Elevation Myocardial Infarction
Authors: Wolfgang Ries, Ahmed Sheriff, Franz Heigl, Oliver Zimmermann, Christoph D Garlichs, Jan Torzewski
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

C-reactive protein (CRP) may be causative in cardiovascular disease. As yet, no specific CRP inhibitor for human application has been described. A 69-year-old male was referred with ST segment elevation myocardial infarction (STEMI). Typical symptoms of chest pain started at 10.00 p.m. The patient was admitted to the hospital at 1.30 a.m. the next day. As ECG showed anterior wall myocardial infarction, the patient was immediately transferred to successful emergency angioplasty/drug-eluting- (DE-) stenting of the subtotally occluded left anterior descending artery. Consecutively, the hemodynamically stable patient was monitored at the chest pain unit. C-reactive protein (CRP) apheresis using the CRP adsorber (PentraSorb® CRP) within CAMI-1 trial was performed 34 h and 58 h after the onset of symptoms. In each apheresis session, 6000 ml plasma was treated via peripheral venous access. Plasma CRP levels decreased from 28.77 mg/l to 12.58 mg/l during the first apheresis session and from 24.17 mg/l to 11.55 mg/l during the second session, respectively. No side effects were observed. This is the first report of selective CRP apheresis in a man. The technology offers multiple opportunities to clarify the immunological/pathogenic role of CRP in health and disease.
Bone Resection for Isolated Ulnar Head Fracture
Authors: Hiromasa Akino, Shunpei Hama, Masataka Yasuda, Kenta Minato, Masahiro Miyashita
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Distal ulnar fractures often occur with distal radius fractures (DRFs), and ulnar styloid fractures commonly occur in the setting of DRF. However, isolated ulnar head fractures are rare. We report a case of isolated ulnar head fracture in which we performed bone resection because the ulnar head bone fragment fractured when internal screw fixation was attempted. His outcome at 18 months postoperatively was considered excellent. However, we do not advocate bone resection other than failure of fixation and the difficult case to perform internal fixation. Longer follow-up would be needed because bone resection might lead to osteoarthritis of the distal radioulnar joint in the future.
Open Tracheostomy after Aborted Percutaneous Approach due to Tracheoscopy Revealing Occult Tracheal Wall Ulcer
Authors: John Schweiger, Collin Sprenker, Devanand Mangar, Rachel Karlnoski, Naga Pullakhandam, Enrico M Camporesi
Journal: Case Rep Anesthesiol (2013)

Tracheostomy is a common procedure for intensive care patients requiring prolonged mechanical ventilation. In this case report, we describe a 78-year-old female patient admitted for an aneurysm of the cerebral anterior communicating artery. Following immediate endovascular coiling, she remained ventilated and was transferred to the neurological intensive care unit. On postoperative day ten, a percutaneous tracheostomy (PCT) was requested; however, a large ulcer or possible tracheoesophageal fistula was identified on the posterior tracheal wall following bronchoscopic assessment of the trachea. Therefore, the requested PCT procedure was aborted. An open tracheostomy in the operating room was completed; however, due to the position and depth of the ulcer, a reinforced endotracheal tube (ETT) was placed via the tracheostomy. Four days later, the reinforced ETT was replaced with a Shiley distal extended tracheostomy tube to bypass the ulceration. Careful inspection and evaluation of the tracheostomy site before PCT prevented a potentially life-threatening issue in our patient.
Plemorphic adenoma of the infratemporal space: a new case report
Authors: Tarik El-Hadi, A Oujilal, M Boulaich, L Sqalli, M Kzadri
Journal: Int J Otolaryngol (2009)
MeSH terms: Case Reports

Plemorphic adenoma is a frequent benign tumor of the major salivary glands. It could also develop from accessory salivary glands. We are reporting an extremely rare case of pleomorphic adenoma developing from the infratemporal space. The final diagnosis was based on histological confirmation. The treatment was mainly a complete resection via an anterior transmaxillary approach. Diagnosis, clinical behaviour, and treatment of pleomorphic adenoma of the infra-temporal space are reviewed from the literature.
Cystic duct remnant: a rare cause for post-cholecystectomy syndrome
Authors: Priyank S Chatra
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

Post-cholecystectomy syndrome is a group of disorders resulting from complications of laparoscopic cholecystectomy. Here we report a case of a 59-year-old female patient with history of cholecystectomy who presented with right hypochondrium pain and bloating. Ultrasound and magnetic resonance cholangiopancreatogram revealed a tubular cystic lesion with calculus in situ in the gallbladder fossa in keeping with cystic duct remnant.
Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease
Authors: Yi-Dan Liu, Dan-Dan Tan, Dan-Yu Song, Yan-Bin Fan, Xiao-Na Fu, Lin Ge, Wei Wei, Hui Xiong
Journal: Front Genet (2023)
Keywords: pomgnt1, dystroglycanopathy (dgp), muscle-eye-brain disease (meb), splice-site variant, uniparental disomy (upd)
MeSH terms: Case Reports

POMGNT1, encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1, is one of the genes responsible for dystroglycanopathy (DGP), which includes multiple phenotypes such as muscle-eye-brain disease (MEB), congenital muscular dystrophy with intellectual disability, and limb-girdle muscular dystrophy Here, we report a case of MEB that is the result of a homozygous variant of POMGNT1 that is revealed through uniparental disomy (UPD). An 8-month-old boy was admitted with mental and motor retardation, hypotonia, esotropia, early onset severe myopia, and structural brain abnormalities. A panel testing of genetic myopathy-related genes was used to identify a homozygous c.636C>T (p.Phe212Phe) variant in exon 7 of POMGNT1 in the patient, a heterozygous c.636C>T variant in the father, and the wild type in the mother. Quantitative polymerase chain reaction (q-PCR) revealed no abnormal copy numbers in exon 7. Trio-based whole-exome sequencing (trio-WES) revealed a possible paternal UPD on chromosome 1 of the patient. Chromosomal microarray analysis (CMA) revealed a 120,451 kb loss of heterozygosity (LOH) on 1p36.33-p11.2, encompassing POMGNT1, and a 99,319 kb loss of heterozygosity on 1q21.2-q44, which indicated UPD. Moreover, RNA sequencing (RNA-seq) verified that the c.636C>T variant was a splice-site variant, leading to skipping of exon 7 (p.Asp179Valfs*23). In conclusion, to the best of our knowledge, we present the first case of MEB caused by UPD, providing valuable insights into the genetic mechanisms underlying this condition.
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome
Authors: Yu Wang, Hanqing Song, Lingling Yu, Nan Wu, Xiaodong Zheng, Bo Liang, Peiguang Wang
Journal: Front Genet (2022)
Keywords: netherton syndrome, spink5, congenital ichthyosiform erythroderma, mutation, phenotype
MeSH terms: Case Reports

Netherton syndrome (NS, OMIM #256500) is a rare autosomal recessive disease characterized by a triad of congenital ichthyosiform erythroderma (CIE) or ichthyosis linearis circumflexa (ILC), trichorrhexis invaginata (TI), and atopic predisposition. The disease is caused by a mutation in the SPINK5 gene (serine protease inhibitor of Kazal type 5) encoding LEKTI (lymphoepithelial Kazal type-related inhibitor). We performed whole-exome sequencing on one Chinese NS family and made genotype-phenotype correlation analysis on the patients clinically diagnosed with NS or congenital ichthyosis erythroderma. We identified a novel frameshift mutation c.2474_2475del (p.Glu825Glyfs*2) in the SPINK5 gene. The N-terminal mutations of LEKTI cause a severer phenotype, while the C-terminal mutations of LEKT1 are related to a milder phenotype. Our findings suggest that Netherton syndrome may be underestimated clinically, and our findings further expand the reservoir of SPINK5 mutations in Netherton syndrome.
Multicentric Breast Abscesses in a Patient Who Had COVID-19
Authors: Mary Van Wert, Michael Ghio, Caroline Graham, Dana Smetherman, Ronda Sanders, Ralph Corsetti
Journal: Ochsner J (2021)
Keywords: abscess, covid-19, breast, vasculitis
MeSH terms: Case Reports

Background: Coronavirus disease 2019 (COVID-19) is recognized as a multisystem disease affecting the whole body, with new complications from the disease being described on an almost-daily basis. Case Report: We report the case of a 50-year-old female with a medical history of diabetes and silicone breast implants who developed right-sided, multicentric breast masses after a prolonged hospitalization for COVID-19 infection complicated by renal failure requiring dialysis. The patient noted an onset of breast pain and masses, and subsequent imaging demonstrated multiple similar oval masses. She underwent biopsy and operative debridement of the lesions and recovered appropriately. Results were consistent with sterile abscesses that were considered secondary to a vasculitis-like process associated with COVID-19 infection. Conclusion: To our knowledge, this case is the first account of breast pathology associated with a diagnosis of COVID-19 in the medical literature and encourages systematic evaluations of patients with coronavirus infections, including breast examinations.
Endometrioma of the Liver: A Case Report and Review of the Literature
Authors: Prachi Rana, Shida Haghighat, Hyosun Han
Journal: Case Reports Hepatol (2019)
MeSH terms: Case Reports

Hepatic endometriosis is a rare form of endometriosis first described by Finkel in 1986. A thorough review of the literature revealed 28 cases of hepatic endometriosis. This unusual condition offers several diagnostic challenges due to its variable appearance on imaging and need for histologic analysis to establish a definitive diagnosis. We present a 42-year-old female initially treated for presumed hydatid cyst that was later found to be endometriosis in the liver. The case highlights the importance of considering endometriosis in the differential for a patient presenting with a solitary liver mass regardless of age and previous history of endometriosis.
Immune Toxicity with Checkpoint Inhibition for Metastatic Melanoma: Case Series and Clinical Management
Authors: Anna J Lomax, Jennifer Lim, Robert Cheng, Arianne Sweeting, Patricia Lowe, Neil McGill, Nicholas Shackel, Elizabeth L Chua, Catriona McNeil
Journal: J Skin Cancer (2018)

Immune checkpoint inhibitors (anti-PD-1 and anti-CTLA-4 antibodies) are a standard of care for advanced melanoma. Novel toxicities comprise immune-related adverse events (irAE). With increasing use, irAE require recognition, practical management strategies, and multidisciplinary care. We retrospectively evaluated the incidence, kinetics, and management of irAE in 41 patients receiving anti-PD-1 antibody therapy (pembrolizumab) for advanced melanoma. 63% received prior anti-CTLA-4 antibody therapy (ipilimumab). IrAE occurred in 54%, most commonly dermatological (24%), rheumatological (22%), and thyroid dysfunction (12%). Thyroiditis was characterised by a brief asymptomatic hyperthyroid phase followed by a symptomatic hypothyroid phase requiring thyroxine replacement. Transplant rejection doses of methylprednisolone were necessary to manage refractory hepatotoxicity. A bullous pemphigoid-like skin reaction with refractory pruritus responded to corticosteroids and neuropathic analgesia. Disabling grade 3-4 oligoarthritis required sulfasalazine therapy in combination with steroids. The median interval between the last dose of anti-CTLA-4 antibody and the first dose of anti-PD-1 therapy was 2.0 months (range: 0.4 to 22.4). Toxicities may occur late; this requires vigilance and multidisciplinary management which may allow effective anticancer therapy to continue. Management algorithms for thyroiditis, hypophysitis, arthralgia/arthritis, colitis, steroid-refractory hepatitis, and skin toxicity are discussed.
Inferior ST-Elevation Myocardial Infarction Associated with Takotsubo Cardiomyopathy
Authors: Oliver Koeth, Uwe Zeymer, Rudolf Schiele, Ralf Zahn
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Takotsubo cardiomyopathy (TCM) is usually characterized by transient left ventricular apical ballooning. Due to the clinical symptoms which include chest pain, electrocardiographic changes, and elevated myocardial markers, Takotsubo cardiomyopathy is frequently mimicking ST-elevation myocardial infarction in the absence of a significant coronary artery disease. Otherwise an acute occlusion of the left anterior descending coronary artery can produce a typical Takotsubo contraction pattern. ST-elevation myocardial infarction (STEMI) is frequently associated with emotional stress, but to date no cases of STEMI triggering TCM have been reported. We describe a case of a female patient with inferior ST-elevation myocardial infarction complicated by TCM.