Results 31 to 40 of about 3,107 (209)
Frontiers in Audiology and OtologyGlanzmann thrombasthenia is a rare congenital bleeding disorder. Recent advances in magnetic resonance imaging (MRI) have made it possible to detect micro-lesions in the inner ear, such as intralabyrinthine hemorrhage, a rare disorder that causes sudden ...
Nobuyoshi Tsuzuki +4 more
doaj +1 more source
Clinical Case Reports, 2022 We report the case of a Filipino girl with autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia caused by homozygous variants in the genes SLC4A1 and ITGA2B within the long homozygous DNA region on chromosome 17q21.31. This
Keiko Aso +7 more
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Glanzmann thrombasthenia: Cerrahpasa Medical Faculty experience
, 2012 Aim: Glazmann thrombasthenia is a rare autosomal recessive disease characterized by a defect in platelet aggregation. Here we report the management of children with Glazmann thrombasthenia followed up at Cerrahpasa Medical Faculty Pediatric Hematology ...
Celkan, Tülin Tıraje +4 more
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Peripartum Management of a Pregnant with Glanzmann’s Thrombasthenia: A Case Report
, 2014 In this study, we aimed to present the case of a patient with Glanzmann’s thrombasthenia (GT) which is a hereditary disorder characterized by defective platelet function.
Seda Ateş +5 more
core +1 more source
Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia
Frontiers in Pediatrics, 2023 Glanzmann thrombasthenia (GT) is a rare inherited disease characterized by mucocutaneous bleeding due to the abnormalities in quantity or quality of platelet membrane GP IIb (CD41) or GP IIIa (CD61). GP IIb and GP IIIa are encoded by the ITGA2B and ITGB3
Zhengrong Wang +9 more
doaj +1 more source
Clinical Case Reports, 2021 A patient with Glanzmann Thrombasthenia developed recurrent venous thrombosis with a JAK2 positive myeloproliferative neoplasm. This indicates that the platelet aIIbβIII integrin has no role in venous thrombosis. We discuss the other potential mechanisms
Roger E. G. Schutgens, Rolf T. Urbanus
doaj +1 more source
Haemophilia, EarlyView.ABSTRACT Introduction Patients with inherited bleeding and haemoglobin disorders face barriers to accessing timely dental care, increasing the risk of untreated oral disease and complications related to invasive procedures. Aim To evaluate the agreement between smartphone‐based asynchronous teledentistry and face‐to‐face examination for oral conditions,
Victor Cordeiro da Silva +7 more
wiley +1 more source
Glanzmann's Thrombasthenia: An Overview
Clinical and Applied Thrombosis/Hemostasis, 2008 Glanzmann's thrombasthenia (GT) is an autosomal recessive inherited bleeding disorder due to a defect in platelet function. The hallmark of this disease is severely reduced/absent platelet aggregation in response to multiple physiological agonists.
Meganathan, Kannan, Renu, Saxena
openaire +2 more sources
Identification of 22 novel mutations in patients with Glanzmann's thrombasthenia [PDF]
, 2008 Glanzmann's thrombasthenia (GT) is an autosomal recessive inherited platelet function defect that characterized by reduction in, or absence of, platelet aggregation in response to multiple physiologic agonists. GT is characterized by normal platelet
Renu Saxena +6 more
core
Trombastenia de Glanzmann. Histerectomia vaginal de urgência tratada com factor VIIa recombinante.
Acta Médica Portuguesa, 2004 In the present article, regarding a clinical case of Thrombasthenia of Glanzmann with severe anaemia by menometrorrhagia, the authors propose the vaginal hysterectomy and the administration of the recombinant factor VIIa on the immediate pre and ...
João S Mairos +10 more
doaj +1 more source