نتایج جستجو برای: glanzmann
تعداد نتایج: 297 فیلتر نتایج به سال:
INDIAN PEDIATRICS 1094 VOLUME 43__DECEMBER 17, 2006 An 8-year-old boy diagnosed as Glanzmann thrombasthenia (GT) by other center was referred to our department in March 2005. He has been followed with GT for 4 years. He complained difficulty in breathing and recurrent upper respiratory tract infections. We observed a big perforation at nasal septum and granulation tissue related with forgotten ...
BACKGROUND: Glanzmann thrombasthenia (GT) is an inherited autosomal recessive platelet disorder characterized by a complete or partial lack, or mutation, of the GPIIb/IIIa complex (integrin α(IIb)β(3)) on the thrombocytes' surface, leading to a severe bleeding syndrome. MATERIAL AND METHODS: Molecular genetic analysis was performed in patients with suspected GT. The aim of the present study was...
Next-generation sequencing is transforming our understanding of human genetic variation but assessing the functional impact of novel variants presents challenges. We analyzed missense variants in the integrin αIIbβ3 receptor subunit genes ITGA2B and ITGB3 identified by whole-exome or -genome sequencing in the ThromboGenomics project, comprising ∼32,000 alleles from 16,108 individuals. We analyz...
Crohn's disease (CD), a polygenic disorder, is the major subtype of inflammatory bowel disease. There heterogeneity and many patients present extraintestinal manifestations. However, association crohn's with another genetic has not been previously described. We report exceptional CD Glanzmann’s thrombasthenia which rare inherited bleeding disorder. Indeed, diagnosis in patient kidney amylosis, ...
Platelets play a critical role in the pathophysiology of atherothrombotic disease. A pivotal event contributing to the understanding of platelet-dependent clot formation was the development of the platelet aggregometer in 1962.1 An aggregometer specifically measures the ability of platelets to adhere via glycoprotein IIb/IIIa (integrin IIb 3), and thousands of articles using this technique have...
Leukocyte adhesion deficiency-1/variant (LAD1v) syndrome presents early in life and manifests by infections without pus formation in the presence of a leukocytosis combined with a Glanzmann-type bleeding disorder, resulting from a hematopoietic defect in integrin activation. In 7 consanguineous families, we previously established that this defect was not the result of defective Rap1 activation,...
Glanzmann thrombasthenia (GT) is the most common inherited disorder of platelets. Most of the molecular defects previously identified in GT have been caused by point (or other small) mutations in the genes for glycoprotein (GP) IIb or GPIIIa. We have used single-strand conformation polymorphism (SSCP) analysis to rapidly identify single-base changes in the GPIIIa gene. Using genomic DNA from no...
Antibodies specifically reacting with platelets only in the presence of EDTA, by the platelet immunofluorescence test, were found in the serum of 20 patients with pseudothrombocytopenia due to in vitro EDTA-dependent platelet agglutination. These antibodies reacted optimally at 0-4 degree C. In 19 patients, IgG antibodies were detected; in 8 patients, IgM or IgA antibodies were also found. In o...
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