OpenMed/multicare-articles huggingface dataset:
Flecainide overdose--support using an intra-aortic balloon pump
Authors: Jonathan Timperley, Andrew R J Mitchell, Peter D Brown, Nicholas E J West
Journal: BMC Emerg Med (2005)

Background:
Flecainide is an antiarrhythmic agent which is being used increasingly for the management of super-ventricular arrhythmias. Overdose with flecainide is frequently fatal with mortality reported as high as 22% due to arrhythmias, myocardial depression and conduction defects leading to electro-mechanical dissociation and asytole. Supportive measures are often required during the case and previously have included inotropes, extracorporeal membrane oxygenation and cardiopulmonary bypass.
Case presentation:
A 47 year old lady presented to the emergency department with a four hour history of severe central chest pain. Her ECG showed atrial fibrillation and broad QRS complexes with a sine wave appearance. She had a past history of paroxysmal atrial fibrillation and significant psychiatric history. Following thrombolysis for a presumed myocardial infarction she developed cardiogenic shock with severely impaired left ventricular function. An intra-aortic balloon pump was inserted and coronary angiography demonstrated normal coronary arteries. With inotropic support she improved over 48 hours, with both her QRS duration and left ventricular function returning to normal. Biochemical testing following her discharge demonstrated significantly elevated levels of flecainide.
Conclusion:
The use of an intra-aortic balloon pump is a useful supportive measure during the acute phase of flecainide overdose associated with severe myocardial depression.
Case report: Kidney perivascular epithelioid cell tumor treated with anti-VEGFR tyrosine kinase inhibitor and MTOR inhibitor
Authors: Ninggang Zhang, Yaqiong Ren, Likun Zan, Xuting Zhang, Jian Zhao, Lu Wen, Yusheng Wang
Journal: Front Oncol (2022)
Keywords: anti-vegfr, malignant pecoma, mammalian target of rapamycin inhibitor, perivascular epithelioid cell tumors, tyrosine kinase inhibitor, vascular endothelial growth factor receptor
MeSH terms: Case Reports

Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors arising from perivascular epithelial cells. There was no standard treatment for unresectable PEComa before 2021. For a low incidence and a rarely curable disease, development of new therapy is essential. A 45-year-old female was diagnosed with malignant renal PEComa (likely with TFE3 rearrangement) that underwent rapid progression after 10 months of surgery. The patient then received the tyrosine kinase inhibitor (TKI) Apatinib, and the tumor remained stable for 15 months before another progression. The patient then received the MTOR inhibitor everolimus that alleviated her symptoms but the tumor went into remission again after another 15 months. This result suggests that antagonizing the vascular endothelial growth factor receptor (VEGFR) pathway be a useful strategy for malignant PEComas, along with the MTOR pathway inhibition that had recently been approved for the rare tumor.
Giant coronary artery aneurysms in juvenile polyarteritis nodosa: a case report
Authors: Therese L Canares, Dawn M Wahezi, Kanwal M Farooqi, Robert H Pass, Norman T Ilowite
Journal: Pediatr Rheumatol Online J (2012)

Juvenile polyarteritis nodosa (PAN) is a rare, necrotizing vasculitis, primarily affecting small to medium-sized muscular arteries. Cardiac involvement amongst patients with PAN is uncommon and reports of coronary artery aneurysms in juvenile PAN are exceedingly rare. We describe a 16 year old girl who presented with fever, arthritis and two giant coronary artery aneurysms, initially diagnosed as atypical Kawasaki disease and treated with IVIG and methylprednisolone. Her persistent fevers, arthritis, myalgias were refractory to treatment, and onset of a vasculitic rash suggested an alternative diagnosis. Based on angiographic abnormalities, polymyalgia, hypertension and skin involvement, this patient met criteria for juvenile PAN. She was treated with six months of intravenous cyclophosphamide and high dose corticosteroids for presumed PAN related coronary vasculitis. Maintenance therapy was continued with azathioprine and the patient currently remains without evidence of active vasculitis. She remains on anticoagulation for persistence of the aneurysms. This case illustrates a rare and unusual presentation of giant coronary artery aneurysms in the setting of juvenile PAN.
A "Catastrophic" Heparin-Induced Thrombocytopenia
Authors: D Barcellona, M Melis, G Floris, A Mameli, A Muroni, G Defazio, F Marongiu
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Background:
Heparin-induced thrombocytopenia (HIT) is a transient, antibody-mediated thrombocytopenia syndrome that usually follows exposure to unfractioned heparin (UFH) or low-molecular-weight heparin (LMWH). In contrast to other pathological conditions which lead to thrombocytopenia and bleeding complications, HIT results in a paradoxical prothrombotic state. It is caused by antibodies directed to complexes containing UFH or LMWH and a self-platelet protein: the platelet factor 4 (PF4). The heparin-PF4 immune complex leads to activation of platelets, monocytes, and endothelial cells which release procoagulant proteins and tissue factor with subsequent blood coagulation activation. Case Report. We describe the case of a woman undergone to knee replacement and affected by urosepsis who developed a HIT after exposure to enoxaparin. The thrombotic burden was very impressive involving the arterial and venous cerebral vessel and the venous pulmonary, hepatic, and inferior legs vascular beds. The patient was successfully treated with fondaparinux without recurrent thrombosis or bleeding. The clinical scenario could be named "catastrophic HIT" like the catastrophic antiphospholipid syndrome since they have a similar pathogenetic mechanism involving both platelets and monocytes procoagulant activities and a similar clinical manifestation with a life-threatening multiple arterial and/or venous thromboses.
Conclusion:
Patients presenting with HIT could show a very impressive thrombotic burden resembling to that of the catastrophic antiphospholipid syndrome. A careful differential diagnosis should be made towards other pathological conditions which lead to thrombocytopenia to avoid an unnecessary and potentially harmful platelet transfusion. Although fondaparinux is off-label, its use in patients with HIT is simple and seems to be effective.
Diffuse involvement of aorta in patient with familial hyperlipidemia
Authors: Mehmet Mustafa Can, Ibrahim Halil Tanboga, Taylan Akgun
Journal: ISRN Cardiol (2011)
MeSH terms: Case Reports

Familial hyperlipidemia (FH) is an inherited metabolic disorder caused by low-density lipoprotein (LDL) receptor abnormality. The delayed clearance of serum LDL results in severe hypercholesterolemia, which leads to the accumulation of LDL-derived cholesterol in skin, tendons, and arterial walls.In homozygous form of the disease, severely atheromatous involvement of the aorta extending to the coronary ostia is almost always present, and particular surgical strategy is required to prevent atheroembolic events.
Screening Colonoscopy Unmasking Colonic Metastasis from an Occult Breast Ductal Carcinoma: A Case Report and Review of the Literature
Authors: Bachar Samra, Sassine Ghanem, Ghulam Ilyas, Evelyn Taiwo
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Metastatic spread from breast cancer to the gastrointestinal tract is rare. Such cases are predominantly lobular carcinomas and they usually occur later on during the course of disease progression with the stomach being the most common site involved. Furthermore, occult breast primary tumor is extremely uncommon. To the best of our knowledge, we describe here the first case of incidental colonic metastasis as first presentation of an occult breast ductal carcinoma. We also provide a review of the literature on gastrointestinal-and specifically colonic-involvement from breast ductal carcinoma.
Heparin induced thrombocytopenia: case presentation and review
Authors: Ronny A Cohen, Mariely Castellano, Christine A Garcia
Journal: J Clin Med Res (2012)
Keywords: heparin induced thrombocytopenia, anticoagulation, pf4, hit

Heparin Induced Thrombocytopenia (HIT) is an adverse effect of heparin therapy with possibly devastating consequences. We present a case of HIT Type II. An in-depth review of HIT is presented, examining the important clinical symptoms and diagnostic indicators. The treatment of HIT is then discussed, with an emphasis on current therapies. An extensive literature review has been performed to present a comprehensive review of the causes, pathophysiology and treatment of HIT.
Keywords:
Heparin induced thrombocytopenia; Anticoagulation; PF4; HIT.
Leukemic retinophaty, the first manifestation in a case of acute myelogenous leukemia
Authors: Oana Roxana Scripcă, Cristina Pădurariu, Neacșu Gheorghe Boricean, Loredana Botoș
Journal: Rom J Ophthalmol (2018)
Keywords: lam3-acute promyelocytic leukemia, all-trans retinoic acid, bone marrow aspiration and biopsy, disseminated intravascular coagulation (dic), leukemic retinopathy, sepsis
MeSH terms: Leukemia, Promyelocytic, Acute / complications, Optic Nerve Diseases / etiology, Case Reports, Adult, Disseminated Intravascular Coagulation, Female, Humans, Leukemia, Myeloid, Acute, Leukemia, Promyelocytic, Acute / diagnosis, Retinal Hemorrhage

A 42-year-old woman, without a specific medical history presented at the Department of Emergency Ophthalmology accusing marked decrease of vision for the left eye (VA 1/ 100). The eye examination revealed an optic neuropathy with multiple retinal hemorrhages at the level of both eyes, but more acutely on the left eye. The brain computer tomography (CT) excluded the suspicion of increasing intracranial pressure. The common blood tests such as complete blood count (CBC), erythrocyte sedimentation rate, and inflammatory markers raised a high suspicion of a malignant haematological disease.
A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome
Authors: Hong Tao Zhu, Mireguli Maimaiti, Chen Cao, Yan Fei Luo, Delihuma Julaiti, Lin Liang, Aizezi Abudureheman
Journal: Front Med (Lausanne) (2019)
Keywords: lamb2 gene, homozygous mutation, microcoria, pierson syndrome, severe type
MeSH terms: Case Reports

Objective: Pierson syndrome (OMIM 609049) is a rare autosomal recessive disorder characterized by congenital nephrotic syndrome and complex ocular abnormalities. Severe renal symptoms had be associated with truncating mutations. Few Chinese patients from diverse ethnic background had been evaluated and reported with this syndrome. Here we report the first Uyghur patient with typical Pierson syndrome phenotypes and a novel pathogenic homozygous variant in LAMB2 gene. Method: A thirty-nine-day old Uyghur girl was born to consanguineous parents, the girl presented with general edema, severe hypotonia and bilateral microcoria. Laboratory tests revealed severe proteinuria, microscopic haematuria, hypoalbuminaemia. By the age of 74 days, she died of renal failure and respiratory infection. We detected on mutations of LAMB2 gene by the sanger sequencing. Result:Sanger sequencing detected a homozygous 2-bp deletion (c.2044_2045insTT/p.Cys682Phefs*13) in the exon 16 of LAMB2 gene. Both parents are heterozygous carriers. Conclusion: We reported the first Uyghur case of LAMB2 gene homozygous mutation leading to severe phenotype Pierson syndrome. The clinical presentation of the patient and the novel pathogenic variant detected in this patient added to the overall knowledge of this rare condition.
Case Report: Novel JAG1 gene mutations in two infants with alagille syndrome characterized by cholestasis
Authors: Yijiang Han, Kun Zhu, Hao Wu, Baohai Chen, Shuqi Hu, Dengming Lai, Jinfa Tou
Journal: Front Pediatr (2022)
Keywords: jag1, mmp-7, alagille syndrome, biliary atresia, cholestasis, diagnosis, gene mutation, infant
MeSH terms: Case Reports

Background:
Infants with Alagille syndrome (ALGS) need to be promptly differentiated from biliary atresia (BA) at an early stage. ALGS is an autosomal, dominant, multisystem disorder with variable phenotypic penetrance caused by heterozygous mutations in JAG1 or NOTCH2, which encode the Notch signaling pathway.
Case presentation:
We report two cases, both with cholestatic jaundice as the main manifestation, in which BA was excluded and finally diagnosed as ALGS based on characteristic facial features, serological tests, imaging, laparoscopic cholangiography, pathology and genetic findings. Both cases are novel mutant genes on chromosome 20 that have not been reported in the literature. The mutation in patient 1 was a novel heterozygous nonsense mutation (NM_000214 exon20, c.2419G > T, p.E807Ter), which was a spontaneous mutation. Followed up to 1 year and 6 months, the symptoms resolved with ursodeoxycholic acid and cholestyramine, and the jaundice has now subsided. Patient 2 was a novel heterozygous frameshift mutation (NM_000214 exon19, c.2367-2368dupTC, p.P790Lfs*31), which was inherited from his mother. This patient was followed up to 9 months and is currently awaiting liver transplantation.
Conclusion:
Both cholestatic infants reported combined to exclude BA, avoid Kasai portoenterostomy (KPE), and definitively diagnose ALGS. Broadening the spectrum of JAG1 gene mutations.
Laryngeal Chondrosarcoma: an Exceptional Localisation of a not Unfrequent Bone Tumor
Authors: Mieke Moerman, Bernard Kreps, Ramses Forsyth
Journal: Sarcoma (2009)
MeSH terms: Case Reports

After osteosarcoma, chondrosarcoma is the second most common primary bone tumor accounting for 26% of all malignancies. In the laryngeal region however, chondrosarcomas are rather rare. Only 300 cases are reported in literature. Considering laryngeal chondrosarcoma, about 75% occur in the cricoid cartilage, whereas 20% occur in the thyroid cartilage. In this paper we report a case of thyroidal chondrosarcoma, and based on a thorough literature search we suggest some practical guidelines concerning diagnosis and therapy.
Epilepsy: unusual presentation of cerebral hydatid disease in Children
Authors: Farouk Hajhouji, Khalid Aniba, Mehdi Laghmari, Mohammed Lmejjati, Houssine Ghannane, Said Ait Benali
Journal: Pan Afr Med J (2016)
Keywords: ct, cerebral hydatid disease, mri, echinococcosis, surgery
MeSH terms: Brain Diseases / parasitology, Echinococcosis / diagnostic imaging, Epilepsy / parasitology, Case Reports, Brain Diseases / diagnostic imaging, Brain Diseases / surgery, Child, Echinococcosis / complications, Echinococcosis / surgery, Female, Follow-Up Studies, Humans, Magnetic Resonance Imaging, Tomography, X-Ray Computed

Cerebral hydatid disease is very rare, representing only 2% of all cerebral space occupying lesions even in the countries where the disease is endemic. Intracranial hydatid cysts are more common in children and occur more frequently in the supratentorial space. The aim of this paper is to describe the characteristic features of computed tomography (CT) and magnetic resonance imaging (MRI), and to determine the clinical presentation and surgical outcome of cerebral hydatid disease. A 7-year-old girl was admitted to the emergency department because of an epileptic attack. On radiological examination a round, cystic lesion appeared in the parietal lobe and caused shift of the midline structures. The cyst was successfully removed using the dowling technique. The postoperative period was uneventful and seizures were not seen during follow up. Hydatid cyst of the brain presents clinically as intracranial space occupying lesion and is more common in children, it is well demonstrated by CT and MR examinations, and Surgery is the treatment option with affordable morbidity and low mortality.
A rare syndrome of central diabetes insipidus with spastic cerebellar ataxia
Authors: Subramanian Kannan, Sivaprakash, G Usha, V Raji
Journal: Ann Indian Acad Neurol (2008)
Keywords: central diabetes insipidus, normal posterior pituitary bright spot, spastic cerebellar ataxia
MeSH terms: Case Reports

The syndrome of central diabetes insipidus (cDI) and spastic cerebellar ataxia is rare with only a few reports in the literature. We report the case of a 21-year-old patient who was diagnosed to have central diabetes insipidus at the age of 7 years and presented to us at the age of 21 years with progressive spastic cerebellar ataxia that evolved over four years. His MRI showed normal hyperintense signal from the posterior pituitary. The persistence of posterior pituitary signal in patients with cDI is unusual and is observed in the familial variety of cDI, the possible etiology in our patient. A brief review of the literature on the rare syndromic association of cerebellar ataxia and cDI has been discussed.
EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics
Authors: Sophie Coutant, Chloé Cabot, Arnaud Lefebvre, Martine Léonard, Elise Prieur-Gaston, Dominique Campion, Thierry Lecroq, Hélène Dauchel
Journal: BMC Bioinformatics (2012)
MeSH terms: Alzheimer Disease / genetics, Exome, Polymorphism, Single Nucleotide, Sequence Analysis, DNA / methods, Software, Research Support, Non-U.S. Gov't, Algorithms, Databases, Genetic, Humans, Sequence Analysis, DNA / instrumentation

Background:
Whole exome sequencing (WES) has become the strategy of choice to identify a coding allelic variant for a rare human monogenic disorder. This approach is a revolution in medical genetics history, impacting both fundamental research, and diagnostic methods leading to personalized medicine. A plethora of efficient algorithms has been developed to ensure the variant discovery. They generally lead to ~20,000 variations that have to be narrow down to find the potential pathogenic allelic variant(s) and the affected gene(s). For this purpose, commonly adopted procedures which implicate various filtering strategies have emerged: exclusion of common variations, type of the allelics variants, pathogenicity effect prediction, modes of inheritance and multiple individuals for exome comparison. To deal with the expansion of WES in medical genomics individual laboratories, new convivial and versatile software tools have to implement these filtering steps. Non-programmer biologists have to be autonomous combining themselves different filtering criteria and conduct a personal strategy depending on their assumptions and study design.
Results:
We describe EVA (Exome Variation Analyzer), a user-friendly web-interfaced software dedicated to the filtering strategies for medical WES. Thanks to different modules, EVA (i) integrates and stores annotated exome variation data as strictly confidential to the project owner, (ii) allows to combine the main filters dealing with common variations, molecular types, inheritance mode and multiple samples, (iii) offers the browsing of annotated data and filtered results in various interactive tables, graphical visualizations and statistical charts, (iv) and finally offers export files and cross-links to external useful databases and softwares for further prioritization of the small subset of sorted candidate variations and genes. We report a demonstrative case study that allowed to identify a new candidate gene related to a rare form of Alzheimer disease.
Conclusions:
EVA is developed to be a user-friendly, versatile, and efficient-filtering assisting software for WES. It constitutes a platform for data storage and for drastic screening of clinical relevant genetics variations by non-programmer geneticists. Thereby, it provides a response to new needs at the expanding era of medical genomics investigated by WES for both fundamental research and clinical diagnostics.
Closure of a large myelomeningocele defect using the V-Y rotation advancement flap (butterfly flap): a case report and literature review
Authors: Hatan Mortada, Tareg Alhablany, Tanveer A Bhat, Abdulla Al Tamimi
Journal: Case Reports Plast Surg Hand Surg (2021)
Keywords: meningomyelocele, advancement flap, butterfly flap, reconstructive surgery, surgical technique
MeSH terms: Case Reports

Early coverage of myelomeningocele (MMC) defects within the post-delivery period is crucial for decreasing mortality rates. Herein, we report the case of a premature 5-day-old male neonate with large MMC defect successfully managed using a quadruple V-Y rotation advancement flap (butterfly technique), an effective surgical technique for large MCC defects.
Significant Clinical Manifestations in Ballantyne Syndrome, after a Case Report and Literature Review: Recognizing Preeclampsia as a Differential Diagnosis
Authors: Silvia F Navarro-Perez, Karen Corona-Fernandez, José L Rodriguez-Chavez, A Bañuelos-Franco, María G Zavala-Cerna
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Ballantyne syndrome (BS) also called mirror syndrome is defined by the presence of a clinical triad that includes fetal hydrops and placental and maternal edema. Here we present a clinical case of a 34-year-old woman with a 29 weeks' pregnancy, who developed BS and fetal loss probably due to failure in prompt recognition of a rapidly growing sacrococcygeal teratoma (SCT). Due to similarities in clinical presentation with preeclampsia and the importance in early identification of the source for BS, we underwent a literature review in order to identify significant signs and symptoms, as well as sonographic changes, in order to help clinicians to make this prompt recognition, identification of the cause, and early management of BS, which will have an important impact in maternal and fetal survival.
An Unusually Large Irritation Fibroma Associated with Gingiva of Lower Left Posterior Teeth Region
Authors: Ashish Lanjekar, Sunita Kulkarni, Sonali Akhade, Sonal Sonule, Usha Rathod
Journal: Case Rep Dent (2016)
MeSH terms: Case Reports

Fibroma is a benign tumor of oral cavity, with usually the tongue, gingiva, and buccal mucosa being the most common sites. Females are twice more likely to develop fibroma than males. The intraoral fibroma typically is well demarcated; and its size can vary from millimeter to few centimeters. Intraorally the growth is attached to the mucosa by means of a peduncle. Fibroma is generally slow growing, painless, smooth surface lesion and the color is slightly paler than the adjacent healthy tissue. Treatment usually requires total excision and recurrence is rare. Here we present a case of 37-year-old female patient reported to the Department of Oral Medicine and Radiology with the chief complaint of a growth in the lower left posterior teeth region 3 months earlier.
Pleuritis with pleural effusion due to a Bacillus megaterium infection
Authors: Ernesto Crisafulli, Ilaria Aredano, Ilaria Valzano, Barbara Burgazzi, Francesco Andrani, Alfredo Chetta
Journal: Respirol Case Rep (2018)
Keywords: bacillus megaterium infection, pleural effusion, pleuritic
MeSH terms: Case Reports

Pleural effusions may be related to pleuro-pulmonary or systemic disorders, including malignancy. Thoracentesis and thoracoscopy may be useful to diagnosis. In some cases, the diagnosis may be difficult and uncommon. We report the case of a hospitalized male for a pleuritis, with pleural effusion caused by a Bacillus megaterium infection, a Gram-positive, aerobic, spore-forming, and rod-shaped bacterium. To our knowledge, our case report is the first evidence of pleuritis due to B. megaterium. In the literature, up to now, B. megaterium infection has only been reported as involving the eye, skin, and brain.