A somatic PIK3CA p.H1047L mutation in a Thai patient with isolated macrodactyly: a case report
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چکیده
منابع مشابه
A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
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: Jatropha curcas,commonly known as “Saboo Dum,” is the most common plant poisoning in Thailand. Saboo Dum seeds are used as raw material for biodiesel fuel manufacture, especially in Royal Thai Military units. The seed contains a toxin called curcin which can cause hepatotoxicity in humans. Case Presentation: We reported twenty-eight private soldiers who were brought to the emergency...
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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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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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ژورنال
عنوان ژورنال: Asian Biomedicine
سال: 2019
ISSN: 1875-855X
DOI: 10.1515/abm-2019-0037