Interesting variations on how a disease is defined: comparisons of von Willebrand disease and Glanzmann thrombasthenia. Reply to a rebuttal
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چکیده
منابع مشابه
Multiple Sclerosis Diagnosed in a Woman With Von-Willebrand Disease: A Case Report
Background: Von-Willebrand Disease (VWD) is the most common inherited bleeding disorder with an autosomal inheritance pattern. Multiple Sclerosis (MS) is a neurological disease, causing neurodegeneration and demyelination of the central nervous system through autoimmune mechanisms, and is a major cause of non-traumatic disabilities in youths. Some studies have shown the higher plasma activity o...
متن کاملGlanzmann thrombasthenia in a neonate.
Glanzmann thrombasthenia is a qualitative platelet function disorder manifested by skin bleeds, epistaxis, gingival bleeding, gastrointestinal hemorrhage, hematuria, hemarthrosis, intracranial hemorrhage and visceral hematomas. We report a six day old newborn presenting with hematuria following suprapubic aspiration, who was diagnosed as Glanzmann thrombasthenia. We believe it to be the younges...
متن کاملGenetic Variations in Exon 3 of VWF Gene in Patients with Von Willebrand Disease (VWD) from South-West Iran
Abstract Background Von Willebrand disease (VWD) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. The disease phenotype is due to quantitative and structural/functional defects in Von Willebrand Factor (VWF) which is a glycoprotein with essential role as a carrier of FVIII in circulation and also it serves the function as hemostasis regulato...
متن کاملGlanzmann thrombasthenia
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...
متن کاملGlanzmann Thrombasthenia: A Clinicopathological Profile.
OBJECTIVE To describe the clinical presentation of patients with Glanzmann's thrombasthenia (GT) and evaluate their diagnostic, clinical, and laboratory parameters including platelet aggregometry. STUDY DESIGN Descriptive study. PLACE AND DURATION OF STUDY Department of Hematology and Blood Transfusion, The Children Hospital and Institute of Child Health, Lahore, from January 2006 to Decemb...
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ژورنال
عنوان ژورنال: Journal of Thrombosis and Haemostasis
سال: 2007
ISSN: 1538-7933,1538-7836
DOI: 10.1111/j.1538-7836.2007.02397.x