نتایج جستجو برای: s thrombasthenia
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Glanzmann thrombasthenia is a rare genetic disorder. It of autosomal inheritance. usually presents as ecchymoses, petechiae, gum bleeding, musical and menorrhagia. An acute episode bleeding can be managed with intravenous antifibrinolytics, blood products transfusion later hormonal therapy. Newer modalities include Recombinant factor VIIa. A multidisciplinary approach needed for the diagnosis m...
background: the most common polymorphisms identified in the methylenetetrahydrofolate reductase (mthfr) gene, c677t and a1298c lead to defective activity of this enzyme and increase the risk of venous and arterial thrombosis. there are limited investigations regarding the effects of thrombogenic polymorphisms on the clinical phenotypes of rare hereditary hemorrhagic disorders like glanzmann's t...
OBJECTIVE To platelet aggregometry and describe the clinical spectrum of Glanzmann's thrombasthenia diagnosed by platelet aggregometry. STUDY DESIGN A case-series. PLACE AND DURATION OF STUDY This study was carried out at the clinical laboratories at the Aga Khan University Hospital, Karachi from January 2003 to January 2006. PATIENTS AND METHODS All patients irrespective of age and gende...
Glanzmann thrombasthenia is an autosomal recessive disorder of the platelet glycoproteins (GP) IIb and IIIa. These glycoproteins normally serve as receptors for other adhesive glycoproteins, including fibrinogen, von Willebrand factor, and fibronectin. Most patients affected by Glanzmann thrombasthenia have low levels of GPIIb and GPIIIa; however, the separate mechanisms responsible for the def...
BACKGROUND Glanzmann thrombasthenia (GT) is a rare inherited platelet disorder that is characterized by spontaneous or postprocedural bleeding. The diagnosis of GT depends on identifying the dysfunction of the platelets. AIM The aim of this study was to compare a whole blood impedance Multiplate analyzer (MEA) with the standard method, light transmission aggregometry (LTA) in diagnosis of GT....
Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. The molecular basis is linked to quantitative and/or qualitative abnormalities of alphaIIb beta3 integrin. This receptor mediates the binding of adhesive proteins that attach aggregating platelets and ensure thrombus formation at si...
Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder characterized by deficient or dysfunctional glycoprotein (GP) IIb/IIIa compexes. The hallmark of the disease is impaired platelet aggregation stemming from defective fibrinogen binding to GPIIb/IIIa. Based on deciphering the abnormality in GT a monoclonal antibody, peptides and peptidominetic agents, all interfering with ...
glanzmann's thrombasthenia (gt) is a rare, genetically inherited platelet disorder in which the platelet glycoprotein iib/iiia (gp iib/iiia) complex is either deficient or, dysfunctional. the incidence is about 1 in 1,000,000. this case report deals with a 4 year-old girl diagnosed with gt presenting with dental caries and periapical lesions in the primary mandibular first molars. to provide th...
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, ...
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