نتایج جستجو برای: ژن myh9
تعداد نتایج: 16127 فیلتر نتایج به سال:
Platelet transfusion is currently the primary medical treatment for reducing thrombocytopenia in patients with inherited thrombocytopenias. To evaluate whether stimulating megakaryopoiesis could increase platelet count in these conditions, we treated patients with a severe thrombocytopenia induced by MYH9 mutations (MYH9-related disease) with a nonpeptide thrombopoietin receptor agonist, eltrom...
INTRODUCTION The group of autosomal dominant disorders - Epstein syndrome, Sebastian syndrome, Fechthner syndrome and May-Hegglin anomaly - are characterised by thrombocytopenia with giant platelets, inclusion bodies in granulocytes and variable levels of deafness, disturbances of vision and renal function impairment. A common genetic background of these disorders are mutations in MYH9 gene, co...
Mutations in the MYH9 gene encoding nonmuscle myosin IIA lead to macrothrombocytopenia as observed in MYH9-related disorders. We used mice with megakaryocyte-restricted MYH9 inactivation to explore the role of myosin in thrombopoiesis. In situ, bone marrow MYH9Delta megakaryocytes were irregularly shaped, appearing leaky with poorly defined limits. The demarcation membranes were abnormally orga...
May-Hegglin anomaly (MHA), Fechtner syndrome (FTNS), Sebastian syndrome (SBS), and Epstein syndrome (EPS) are a group of rare, autosomal dominant disorders characterized by thrombocytopenia, giant platelets, and Döhle-like inclusion bodies, together with variable manifestations of Alport-like symptoms that include high-tone sensorineural deafness, cataracts, and nephritis. These disorders resul...
Adequate Nutrition May get You Home: Effect of Caloric/Protein Deficits on the Discharge Destination of Critically Ill Surgical Patients 37 D. Dante Yeh, MD; Eva Fuentes, MD; Sadeq A. Quraishi, MD, MHA, MMScH; Catrina Cropano, MSc; Haytham Kaafarani, MD, MPH; Jarone Lee, MD, MPH; David R. King, MD; Marc DeMoya, MD; Peter Fagenholz, MD; Kathryn Butler, MD; Yuchiao Chang, PhD; and George Velmahos...
We report a 37-year-old renal transplanted patient with thrombocytopaenia. He had May–Hegglin anomaly (MHA) inherited from his father, who died due to myocardial infarction subsequent to two renal transplantations. At the age of 15 years, proteinuria was found, but he was not biopsied. In 1982, he underwent splenectomy because of trauma. In 1989, when he was 17, renal function was found to be d...
Mutations of MYH9, the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA), cause a complex clinical phenotype characterized by macrothrombocytopenia and granulocyte inclusion bodies, often associated with deafness, cataracts and/or glomerulonephritis. The pathogenetic mechanisms of these defects are either completely unknown or controversial. In particular, it is a matter of debate whether ...
Vinay Chandrasekhara, MD, Krishnavel V. Chathadi, MD, Ruben D. Acosta, MD, G. Anton Decker, MBBCh, MRCP, MHA, Dayna S. Early, MD, Mohamad A. Eloubeidi, MD, John A. Evans, MD, Ashley L. Faulx, MD, Robert D. Fanelli, MD, SAGES Representative, Deborah A. Fisher, MD, MHS, Kimberly Foley, RN, BSN, CGRN, SGNA Representative, Lisa Fonkalsrud, BSN, RN, SGNA Representative, Joo Ha Hwang, MD, PhD, Terry ...
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