OpenMed/multicare-articles huggingface dataset:
Endothelial Nitric Oxide Synthase T-786C Mutation, Prothrombin Gene Mutation (G-20210-A) and Protein S Deficiency Could Lead to Myocardial Infarction in a Very Young Male Adult
Authors: Milka Klincheva, Elena Ambarkova Vilarova, Tanja Angjusheva, Ivan Milev, Enver Idoski, Zan Mitrev
Journal: Open Access Maced J Med Sci (2016)
Keywords: (enos) t-786c mutation, myocardial infarction, protein s deficiency, prothrombin gene mutation (g-20210-a), young male
MeSH terms: Case Reports

Introduction:
Myocardial infarction is a rare medical event in young people. The main reasons include congenital coronary abnormalities, coronary artery spasm, and coronary thrombosis due to hypercoagulable states (hereditary and acquired).
Aim:
We present a case of a young male adult with myocardial infarction caused by a combination of gene mutations and anticoagulation protein deficiency.
Case presentation:
A 19 years old young man was admitted to our hospital complaining of chest pain during the last two weeks. The patient did not have any known cardiovascular risk factors, except a positive family anamnesis. Subacute inferior nonST segment myocardial infarction was diagnosed according to the patient's history, electrocardiographic and laboratory findings. Coronary angiography revealed suboclusive thrombus in the proximal, medial and distal part of the right coronary artery (TIMI 2). Percutaneous coronary intervention was performed. Anticoagulant and antiagregant therapy (heparin, acetilsalicilic acid and clopidogrel) according to protocol was started. The hospital stay was uneventful. Homozygous endothelial nitric oxid synthase (eNOS) T-786-C mutation, heterozygote prothrombin gene mutation (G-20210-A), and protein S deficiency were verified from the thrombophilia testing. Other trombophilic tests were normal. Three months after discharge from hospital another coronary angiography was performed. It revealed normal coronary arteries. Four years after the attack, the patient is free of symptoms and another cardiovascular event.
Conclusion:
Combination of genetic mutations and anticoagulation protein deficiency could be a reasonable cause for myocardial infarction in a very young male adult without any other cardiovascular risk factors.
Bithalamic Infarction (Artery of Percheron Occlusion) after Anterior Cervical Discectomy and Fusion
Authors: Hatem B Afana, Nidal M M Abuhadrous, Alaa Eldin Elsharkawy
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

Bithalamic infarction resulting from occlusion of the artery of Percheron after cervical spine surgery is a rare pathological entity. Diagnosis and early detection are challenging. Prompt management may help to improve the outcome. We present a case of a 39-year-old male patient, smoker, diagnosed with multiple cervical disc herniations, who underwent Anterior Cervical Discectomy and Fusion (ACDF) for C3-C4, C4-C5, and C5-C6. During the 2-hour and 50-minute surgery, the patient was lying supine with his neck hyperextended. The intraoperative procedure was uneventful. During surgery, blood pressure ranged around 110 mmHg∖50 mmHg. At the end of surgery, the patient's recovery from general anesthesia was normal with no delaying or complication; on next the day, patient developed a sudden loss of consciousness. Urgent brain computed tomography (CT) was normal; two days later, follow-up CT and CT Angiography (CTA) revealed bilateral thalamic infarction with right vertebral artery occlusion from its origin. Intraoperative surgical manipulation, hypotensive anesthesia, and prolonged neck hyperextension might have contributed to stroke in this patient. ACDF carries a potential risk for posterior circulation stroke. Artery of Percheron infarction should be considered in the differential diagnosis of patients developing a sudden loss of consciousness after ACDF. Vertebral artery thrombosis should be taken into account as an important possible cause of embolism.
An unexpected case of hypercalcaemia and hilar fullness
Authors: M Laher, G A Richards
Journal: Afr J Thorac Crit Care Med (2020)
Keywords: hilar fullness, hypercalcaemia, hyperparathyroidism
MeSH terms: Case Reports

Hypercalcaemia, a condition with abnormally raised calcium levels, is commonly caused by cancer, immobility, certain supplements and other diseases such as sarcoidosis. In this case report, we present a 65-year-old female who presented with hypercalcaemia, hilar adenopathy on chest X-ray and a pathological fracture of her ankle that was unexpectedly due to hyperparathyroidism.
Use of Digital-Conventional Method for Managing a Patient with Severely Worn Dentition: A Clinical Report
Authors: Saied Nokar, Amirreza Hendi, Yasamin Babaee Hemmati, Mehran Falahchai
Journal: Case Rep Dent (2018)
MeSH terms: Case Reports

Severe forms of attrition are frequently found in patients with no or insufficient posterior occlusal support. Management of such patients using fixed or removable prostheses is a complex procedure and is still a challenge for clinicians. The present clinical report describes step by step full mouth rehabilitation of a patient with severely worn dentition using computer-aided design/computer-aided manufacturing- (CAD/CAM-) generated wax patterns, milled zirconia frameworks, and fabrication of removable partial denture (RPD) abutments using a digital-conventional method. The results were satisfactory during 18 months of follow-up.
Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma Developed in a Patient with Progressive Muscular Dystrophy: A Case Report and Review of the Literature
Authors: Ryo Miyagi, Toshihiko Nishisho, Shinjiro Takata, Yoshimitsu Shimatani, Shunichi Toki, Koichi Sairyo
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Background:
Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLS) is an intermediate or locally aggressive form of adipocytic soft tissue sarcoma. Muscular dystrophy (MD) is characterized by progressive muscle atrophy and its replacement by adipose and fibrous tissue. Recently, some authors have reported that MD genes are related to neoplastic formation, but there have been no detailed clinical reports of ALT associated with MD.
Case presentation:
A 73-year-old woman with a diagnosis of limb-girdle MD visited our department for recurrence of a huge tumor in her left thigh. She had undergone resection of a lipoma at the same site more than 20 years earlier. Imaging studies revealed a lipomatous tumor in her left thigh. We performed marginal resection including the adjacent muscles. Histological diagnosis was atypical lipomatous tumor. The postoperative course was uneventful, with no recurrence at 36 months of follow-up.
Conclusion:
We encountered a huge atypical tumor in a patient with MD. This is the first detailed report to describe an association between ALT and MD. We hypothesize that degenerative changes occurring in adipose tissue during muscle atrophy can cause lipomatous neoplasms and moreover that the mutation of MD-related genes may lead to the proliferation of tumor cells or to malignancy.
Full-Endoscopic Transforaminal Ventral Decompression for Symptomatic Thoracic Disc Herniation with or without Calcification: Technical Notes and Case Series
Authors: Shangju Gao, Jingchao Wei, Wenyi Li, Long Zhang, Can Cao, Jinshuai Zhai, Bo Gao
Journal: Pain Res Manag (2021)
MeSH terms: Diskectomy, Percutaneous, Intervertebral Disc Displacement / complications, Intervertebral Disc Displacement / surgery, Decompression, Humans, Retrospective Studies, Treatment Outcome

Background:
Symptomatic thoracic disc herniation is a challenge in spinal surgery, especially for cases with calcification. Traditional open operation has a high complication rate. The authors introduced a modified full-endoscopic transforaminal ventral decompression technique in this study and evaluated its imaging and clinical outcomes.
Materials and methods:
Eleven patients with symptomatic thoracic disc herniation who underwent full-endoscopic transforaminal ventral decompression in a single medical center were enrolled. The surgical technique was performed as described in detail. Dilator sliding punching, endoscope-monitored foraminoplasty, and base cutting through the "safe triangle zone" are the key points of the technique. Clinical outcomes were assessed by the modified Japanese Orthopedic Association (mJOA) score for neurological improvement and the visual analogy score (VAS) for thoracic and leg pain. The operation time, hospital stay, and complications were also analyzed.
Results:
Postoperative magnetic resonance imaging (MRI) revealed good decompression of the spinal cord. The mJOA improved from 7.4 (range: 5-10) to 10.2 (range: 9-11). Axial thoracic pain improved in 8 of 9 patients. Leg pain and thoracic radicular pain improved in all patients. No complications were observed. The average operation time was 136 minutes (range: 70-180 minutes). The average length of hospital stay was 5.3 days (range: 2-8 days).
Conclusion:
Minimally invasive full-endoscopic transforaminal ventral decompression for the treatment of symptomatic thoracic disc herniation with or without calcification is feasible and may be another option for this challenging spine disease.
A case of Gorlin-Goltz syndrome presented with psychiatric features
Authors: Amir Mufaddel, Mouza Alsabousi, Badr Salih, Ghanem Alhassani, Ossama T Osman
Journal: Behav Neurol (2014)
MeSH terms: Basal Cell Nevus Syndrome / diagnosis, Brain / diagnostic imaging, Psychotic Disorders / complications, Case Reports, Adult, Basal Cell Nevus Syndrome / complications, Basal Cell Nevus Syndrome / diagnostic imaging, Humans, Male, Psychotic Disorders / diagnostic imaging, Radiography

We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indicated pitted keratosis involving hands, callosities, and seborrheic dermatitis. There were numerous palmar pits, and Brain CT Head scan revealed extensive calcification along falx cerebri and around the cerebellar vermis. He had low (20 ng/L) vitamin D level and high parathyroid hormone level. The patient improved using antipsychotic medications and vitamin D supplementations for symptomatic management and was discharged with a plan for multispecialty outpatient follow-up. This case highlights the importance of considering rare organic etiologies in the differential diagnosis of patients presenting with psychiatric symptoms. This is of vital importance for early intervention to prevent complications and for better outcomes of the coexistent diseases.
Two Patients with Fulminant Clostridium difficile Enteritis Who Had Not Undergone Total Colectomy: A Case Series and Review of the Literature
Authors: Eliza W Beal, Rosara Bass, Alan E Harzman
Journal: Case Rep Surg (2015)

Introduction. Clostridium difficile is the most common cause of healthcare associated infectious diarrhea, and its most common clinical manifestation is pseudomembranous colitis. Small bowel enteritis is reported infrequently in the literature and typically occurs only in patients who have undergone ileal pouch anastomosis due to inflammatory bowel disease or total abdominal colectomy for other reasons. Presentation of Cases. We report here two cases in which patients developed small bowel C. difficile enteritis in the absence of these underlying conditions. Discussion. Neither patient had underlying inflammatory bowel disease and both had a significant amount of colon remaining. Conclusion. These two cases demonstrate that small bowel C. difficile enteritis should be included in the differential diagnosis of patients on antibiotic therapy who demonstrate signs and symptoms of worsening abdominal disease during their postoperative course, even if they lack the major predisposing factors of inflammatory bowel disease or history of total colectomy.
Mycobacterium abscessus urinary tract infection in an immunocompetent host: A case report and literature review
Authors: Abdulrahman F Al-Mashdali, Gawahir A Ali, Noheir M Taha, Wael Goravey, Ali S Omrani
Journal: IDCases (2022)
Keywords: amikacin, chronic kidney disease, clarithromycin, genitourinary infections, mycobacterium abscessus, nontuberculous mycobacteria
MeSH terms: Case Reports

Mycobacterium abscessus is one of the nontuberculous mycobacteria (NTM), which can cause many clinical spectra, predominantly pulmonary infections followed by skin and soft tissue infections. The prevalence of Mycobacterium abscessus infections has been growing worldwide over the last two decades. Urinary tract infection (UTI) secondary to M. abscessus is a rare condition, and only five cases have been described in the literature so far. Therefore, managing such a condition is challenging and based on limited evidence. Here, we report a case of an adult male with a history of previous urological procedures who presented with lower urinary tract symptoms (LUTS) and was found to have a UTI secondary to Mycobacterium abscessus. In this case, we described our successful management approach of this rare entity of Mycobacterium abscessus infection, and we reviewed similar cases in the literature.
Carcinoma of the colon in a 40 year old female: a case report
Authors: Jonathan Walubembe, Mike Engola Aremo, Conrad Tumwine, Florence Nabaale, Andrew Twinomasiko, Isaac Tukesiga, Phillip Ssenyomo, Apollo Mugaiga, Jerome Roy Semakula, Derrick Amone Olwedo, David Lagoro Kitara
Journal: Pan Afr Med J (2019)
Keywords: mucinous adenocarcinoma of the colon, hepatic flexure, hereditary non polyposis colorectal carcinoma (hnpcc), laparotomy, ultrasonography
MeSH terms: Adenocarcinoma, Mucinous / diagnosis, Anemia, Hypochromic / diagnosis, Colonic Neoplasms / diagnosis, Case Reports, Adenocarcinoma, Mucinous / pathology, Adenocarcinoma, Mucinous / surgery, Adult, Colonic Neoplasms / pathology, Colonic Neoplasms / surgery, Female, Humans, Laparotomy / methods, Uganda, Anemia, hypochromic microcytic

We present a histologically proven mucinous adenocarcinoma of the colon in a 40 year old female from Gulu, Northern Uganda. Her elder sister died at 25 years with advanced adenocarcinoma of colon similarly with her mother who died of the same illness 10 years apart. Using the Amsterdam criteria for the diagnosis of the carcinoma of the colon, this is descriptive of Hereditary Non Polyposis Colorectal Carcinoma (HNPCC). Blood examinations revealed microcytic hypochromic anaemia. The Renal and Liver function parameters were essentially normal. The abdominal ultrasonography showed an ill-defined mass in the right hypochondrial region which was heterogeneous with central echogenicity approximately 7.2cm wide and with no intra-abdominal lymphadenopathy or ascitis. At laparotomy, the sonographic findings were confirmed with a demonstrable mass in the hepatic flexure of the colon with hyperemic areas on its serosa. Macroscopically, there was an annular fungating mass with a central necrosis in the hepatic flexure measuring over 7.0cm. Histology of the colonic tumour showed a mucinous adenocarcinoma of the colon (Duke's B). This finding highlights the occurrence of colonic adenocarcinoma in the young person in Northern Uganda, a finding which draws the attention of the medical community towards having a higher index of suspicion for carcinoma of the colon in patients with similar presentation.
Endovenous Laser Ablation for Treatment of a Partially Thrombosed Proximal Great Saphenous Vein
Authors: Luca Spinedi, Hans Stricker, Daniel Staub, Heiko Uthoff
Journal: Case Rep Vasc Med (2019)
MeSH terms: Case Reports

Introduction:
Superficial vein thrombosis of the great saphenous vein near to the saphenofemoral junction is generally treated with anticoagulation or surgically.
Report:
We present the case of a 70-year-old man with varicosities and a partially thrombosed great saphenous vein near to the saphenofemoral junction, treated with endovenous laser ablation of the great saphenous vein.
Discussion:
The case illustrates an alternative treatment option for superficial vein thrombosis of the great saphenous vein, which permits avoiding a prolonged anticoagulation or surgical procedure.
Traumatic Bilateral Pneumothoraces due to Sternal Wire Migration
Authors: Umar Imran Hamid, Scott Gillespie, Colum Lynchehaun, Haralabos Parissis
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Sternal wound complications after cardiac surgery are associated with increased morbidity and mortality. Wire migrations associated with sternal dehiscence can lead to catastrophic haemorrhage unless intervened in time. We present a case of sternal wire migration causing bilateral pneumothoraces.
Salvage of Upper Limb following a Severe Crushing Trauma: Immediate Reconstruction with a Free Flap and Subsequent Hyperbaric Oxygen Therapy
Authors: M P Serra, P Longhi
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

A microsurgical latissimus dorsi flap was performed for resurfacing a large soft tissue defect of the forearm with exposure of the vital structures and contaminated wound. Early coverage of a defect is a generally accepted concept to achieve a better functional result. The authors present a case report where a free latissimus dorsi flap with subsequent hyperbaric oxygen therapy allowed a successful single stage reconstruction of this complex severely contaminated defect.
Pancreatic metastasis from gastric carcinoma: a case report
Authors: Moritz N Wente, Frank Bergmann, Boris E Fröhlich, Peter Schirmacher, Markus W Büchler, Helmut Friess
Journal: World J Surg Oncol (2004)

Background:
The pancreas is a rare but occasionally favored target for metastasis. Metastatic lesions in the pancreas have been described for various primary cancers, such as carcinomas of the lung, the breast, renal cell carcinoma and sarcomas.
Case presentation:
We report the case of a 60-year old female with a mass in the pancreatic head four years after partial gastrectomy for gastric adenocarcinoma. The patient underwent a pancreatoduodenectomy. Pathological examination revealed metastases of the primary gastric carcinoma within the pancreatic head and in regional lymph nodes.
Conclusions:
Pancreatic tumors in patients with a history of non-pancreatic malignancy should always be considered to be a putative metastatic lesion at an unusual site. If the pancreas can be identified as the only site of spread, radical resection may prolong survival.
Case report: Fecal microbiota transplantation in refractory ankylosing spondylitis
Authors: Lei Wang, Zhimin Wei, Fei Pan, Chuan Song, Lihua Peng, Yunsheng Yang, Feng Huang
Journal: Front Immunol (2023)
Keywords: ankylosing spondylitis, case report, fecal microbiota transplantation, gut microbiota, ulcerative colitis
MeSH terms: Colitis, Ulcerative / pathology, Gastrointestinal Microbiome, Microbiota, Spondylitis, Ankylosing, Case Reports, Research Support, Non-U.S. Gov't, Fecal Microbiota Transplantation, Feces, Humans

Ankylosing spondylitis (AS) is the prototype of a group of systemic inflammatory diseases referred to as spondyloarthritis. Comorbid inflammatory bowel disease and changed gut microbiota in AS have attracted attention to the influence of gut-joint axis and encouraged treating AS by targeting gut microbiota. Here we first reported a patient with refractory AS and comorbid ulcerative colitis (UC) who underwent three fecal microbiota transplantations (FMTs). Inadequate response to conventional treatments including tumor necrosis factor inhibitors impelled FMT as alternative therapy. Notable improvements in AS and UC accompanied with changed fecal microbiota were recorded at 1 week post-FMT1. Further recovery was found after the other two FMTs, and a roughly stable status was maintained in the follow-up period. More studies are needed to validate the effectiveness of FMT in AS and its mechanisms.
MYB deregulation from a EWSR1-MYB fusion at leukemic evolution of a JAK2 (V617F) positive primary myelofibrosis
Authors: Tiziana Pierini, Danika Di Giacomo, Valentina Pierini, Paolo Gorello, Gianluca Barba, Anair Graciela Lema Fernandez, Fabrizia Pellanera, Tamara Iannotti, Franca Falzetti, Roberta La Starza, Cristina Mecucci
Journal: Mol Cytogenet (2016)
Keywords: leukemic transformation, myb, pmf
MeSH terms: Case Reports

Background:
Although Philadelphia-negative myeloproliferative neoplasms (Ph-MPN) are usually not aggressive, the type and the number of molecular lesions impact greatly on leukemic transformation. Indeed, the molecular background underlying progression is still largely unexplored even though ASXL1, IDH1/2, SRSF2, and TP53 mutations, together with adverse karyotypic changes, place the patient at high risk of leukemic transformation.
Case presentation:
Our patient, a 64-year old man with a diagnosis of JAK2 (V617F) primary myelofibrosis (PMF) had an unusually rapid leukemic transformation. Genomic profiling showed that TET2 and SRSF2 mutations were also present. At leukemic transformation, the patient developed a complex chromosome rearrangement producing a EWSR1-MYB fusion. Remarkably, the expression of MYB and of its target BCL2 was, respectively, ≥4.7 and ≥2.8 fold higher at leukemic transformation than after chemotherapy, when the patient obtained the hematological remission. At this time point, the EWSR1-MYB fusion disappeared while JAK2 (V617F), TET2, and SRSF2 mutations, as well as PMF morphological features persisted.
Conclusions:
Rapid leukemic transformation of JAK2 (V617F) PMF was closely linked to a previously undescribed putative EWSR1-MYB transcription factor which was detected only at disease evolution. We hypothesize that the EWSR1-MYB contributed to leukemia transformation through at least two mechanisms: 1) it sustained MYB expression, and consequently deregulated its target BCL2, a putative onco-suppressor gene; and 2) ectopic EWSR1-MYB expression probably fulfilled its own oncogenic potential as demonstrated for other MYB-fusions. As our study confirmed that MYB is recurrently involved in chronic as well as leukemic transformation of PMF, it appears to be a valid molecular marker for tailored treatments.
Asymptomatic giant coronary aneurysm in an adolescent with Behcet's syndrome
Authors: Philip J Kahn, Yusuf Yazici, Michael Argilla, Monvadi Srichai, Deborah M Levy
Journal: Pediatr Rheumatol Online J (2012)

Objective:
Behcet's is an idiopathic multi-organ syndrome, which may have onset during childhood. Vascular involvement is uncommon, with rarely reported coronary aneurysm formation. We present a case report of a teenager girl who developed recalcitrant life-threatening Behcet's vasculitis, involving both small and large venous and arterial systems including a giant coronary aneurysm.
Case report:
De-identified data were collected retrospectively in case report format. Although our sixteen year old female with Behcet's vasculitis had resolution of many arterial aneurysms, she had persistent venous thrombosis of large vessels, as well as persistent, giant arterial aneurysms requiring intra-arterial coiling of a lumbar artery and coronary bypass grafting despite intensive immunosuppression including glucocorticoids, cyclophosphamide, infliximab, methotrexate, azathioprine and intravenous immunoglobulin.
Conclusions:
Vascular manifestations may be seen in Behcet's syndrome, including asymptomatic coronary aneurysm, which may be refractory to immunosuppression and ultimately require surgical intervention. Increased awareness is essential for prompt diagnosis and management.