Medical Diagnosis
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Indirect Molecular Diagnosis of Congenital Factor ΧІІІ Deficiency by Candidate Microsatellites and Single Nucleotide Polymorphisms
Background: Congenital factor XIII (FXIII) deficiency is one of the rarest bleeding disorders with a prevalence of one per 2 million in the general population. The disorder is accompanied by a high rate of life-threatening bleeding. Due to normal results of routine coagulation tests, diagnosis of the disorder is challenging, but molecular methods can be used for precise diagnosis. Direct mutati...
متن کاملA multiple-antigen detection assay for tuberculosis diagnosis based on broadly reactive polyclonal antibodies
Objective(s): Detection of circulating Mycobacterium tuberculosis (M. tuberculosis) antigens is promising in Tuberculosis (TB) diagnosis. However, not a single antigen marker has been found to be widely expressed in all TB patients. This study is aimed to prepare broadly reactive polyclonal antibodies targeting multiple antigen markers (multi-target antibodies) and evaluate their efficacies in ...
متن کاملA CAD System Framework for the Automatic Diagnosis and Annotation of Histological and Bone Marrow Images
Due to ever increasing of medical images data in the world’s medical centers and recent developments in hardware and technology of medical imaging, necessity of medical data software analysis is needed. Equipping medical science with intelligent tools in diagnosis and treatment of illnesses has resulted in reduction of physicians’ errors and physical and financial damages. In this article we pr...
متن کاملUltrasonographic Triangular Cord Sign and Gallbladder Abnormality in Diagnosis of Biliary Atresia
Introduction: Early diagnosis of biliary atresia is very important for better outcome of treatment. Ultrasonography is one of the diagnostic tools for early differentiation of biliary atresia from other causes of neonatal cholestasis. It has been reported that triangular cord sign (TACS) in sonography is a reliable sign for diagnosis of biliary atresia. The aim of this study was to re-assess ...
متن کاملIdentification of the rs797045105 in the SERAC1 gene by Whole-Exome Sequencing in a Patient Suspicious of MEGDEL Syndrome
Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...
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