Hemochromatosis in a β‐thalassemia minor patient with H63D homozygous mutation: A case report
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منابع مشابه
CblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report
Background CombinedMethylmalonic Aciduria (MMA), and homocystinuria CblC type is the most common inborn error of cobalamin metabolism with 77 mutations identified till date in the MMACHC gene. The disease has early and late presentations with varied clinical features. Case report A pair of preterm monochorionic twins was born to non-consanguineous parents with history of 2 previous infant deat...
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Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...
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Background and Objectives: Today, in addition to the acute pancreatitis, hyperamylasemia is seen among some other acute surgical conditions. Therefore, the aim of this study was to introduce a case of hyperamylasemia as a rare case in a patient with uncomplicated appendicitis. Case report: The present study was a case report in which a 10-year-old patient referred to Ali-ebn Abi Taleb Hospita...
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Introduction: Arteria lusoria is an aberrant right subclavian artery. In symptomatic cases, patients report dysphagia and only in few cases dyspnea, due to external compression of the trachea and esophagus. Symptoms occur in advanced age and diagnosis is made with chest HRCT, when other causes of dysphagia have been excluded. Case Report: An 83-year-old woman presented with dyspnea and m...
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Eosinophilic cholecystitis is a rare inflammatory condition encountered in surgical cholecystectomy specimens. In terms of histopathology, it is defined by transmural infiltration of eosinophils composing more than 90% of leukocytes. We here report a case of 19-year-old male admitted with thalassemia intermedia and with severe left upper quadrant pain. The patient underwent open splenectomy and...
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2020
ISSN: 2050-0904,2050-0904
DOI: 10.1002/ccr3.3096