Sentence examples for giant platelet from inspiring English sources
The variable presence of glomerulonephritis in the autosomal dominant giant platelet syndromes suggests the important role for these molecules in glomerular function.
Additionally, numerous rare exonic variants have already been reported to cause ESKD in the context of a set of syndromes (Giant Platelet Syndromes) with autosomal dominant inheritance (19).
Specific MYH9 non-synonymous mutations have been associated with giant platelet syndromes, including the spectrum of May-Hegglin, Epstein, Fechtner and Sebastian syndromes, which include thrombocytopenia and frequently sensori-neural deafness and/or glomerulonephritis (14).
In giant platelet disorders such as Bernard Soulier, MPV is high, whereas in Wiskott Aldrich syndrome, MPV is low, reflecting the small size of the platelets in this syndrome.
Moreover, 39 different coding region mutations in MYH9 have been identified in patients with a group of rare syndromes, collectively termed the Giant Platelet Syndromes, with clear autosomal dominant inheritance, and various clinical manifestations, sometimes also including glomerular pathology and chronic kidney disease (Kopp 2010; Sekine et al. 2010).
May-Hegglin anomaly (MHA) is an autosomal dominant macrothrombocytopenia of unclear pathogenesis characterized by thrombocytopenia, giant platelets and leukocyte inclusions.
3. Through my clinical practice, I identified a large family with the May-Hegglin anomaly, an autosomal dominant platelet condition characterized as thrombocytopenia, leukocyte inclusions, and giant platelets.
Macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is a rare autosomal dominant disorder characterized by thrombocytopenia, giant platelets, and Döhle body-like inclusions in leukocytes.
Mutations in the GPIb beta subunit are associated with Bernard-Soulier syndrome which is characterized by thrombocytopenia, circulating giant platelets, and prolonged bleeding time [81].
It is characterized by giant platelets and thrombocytopenia.
Furthermore, hematology analyzer reported on the following flags: "platelet clumps" and "giant platelets".
