Results 1 to 10 of about 3,441,901 (408)
Medich Giant Platelet Syndrome: An Evolving Qualitative and Quantitative Platelet Disorder. [PDF]
Hematol Rep, 2022 Qualitative platelet disorders remain rare and varied. We describe here 2 additional patients with giant platelets, thrombocytopenia, deficiency in alpha granules and the presence of membranous inclusions within the cytoplasm.
Massey G, Tyrrell L, Diab Y, Gunning WT.
europepmc +2 more sources
MPN/MDS Overlap Syndrome Anticipated by a Severe Bleeding Diathesis: Hypothesis of a Preexisting Platelet Disorder. [PDF]
Mediterr J Hematol Infect DisWe report the case of a patient with a conclusive diagnosis of “MDS/MPN” Overlap Syndrome preceded by platelet disorder and hemorrhagic phenotype. We want to induce a reflection about diagnosis of oncohematological disorders in patient with a documented
Ranalli P +3 more
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P1637: RISKS FOR A PLATELET COUNT DROP: COVID-19 & ITP DATA FROM THE PLATELET DISORDER SUPPORT ASSOCIATION (PDSA) PATIENT REGISTRY [PDF]
Hemasphere, 2022 DiRaimo J +4 more
europepmc +2 more sources
Acquired Bernard-Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab. [PDF]
Res Pract Thromb HaemostBackground: Bernard-Soulier syndrome (BSS) is an autosomal recessive disorder caused by deficient platelet glycoprotein Ib-IX-V expression resulting in abnormal bleeding, thrombocytopenia, giant platelets, and reduced platelet aggregation response to ...
Banaszak LG +3 more
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Clinical and laboratorial characterization of a cohort of patients with hereditary platelet disorders in Brazil. [PDF]
Hematol Transfus Cell TherIntroduction: Inherited platelet disorders are rare conditions characterized by altered platelet function and/or reduced platelet counts. Diagnosing these disorders is challenging and may result in delays, misdiagnosis, and inappropriate treatment.
Grassi LDV +5 more
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Anesthesia Management Using Remimazolam in A Patient With Bernard-Soulier Syndrome: A Case Report. [PDF]
Clin Case RepBernard‐Soulier syndrome (BSS) is a platelet dysfunction disorder characterized by massive thrombocytopenia and a lack of platelet aggregation. Remimazolam, a short‐acting benzodiazepine sedative, is believed to have minimal effects on platelets.
Shakuo T +5 more
europepmc +2 more sources
Frontiers in Pediatrics, 2022 Glanzmann thrombasthenia (GT) is a rare autosomal recessive platelet disorder due to a qualitative or quantitative anomaly of the platelet membrane glycoprotein GPIIb/IIIa. Its clinical manifestations include mild to severe bleeding.
Jian hua Li +9 more
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Inherited platelet disorders [PDF]
Haemophilia, 2012 Summary. Inherited diseases of the megakaryocyte lineage give rise to bleeding when platelets fail to fulfill their hemostatic function upon vessel injury. Platelet defects extend from the absence or malfunctioning of adhesion (GPIb‐IX‐V, Bernard–Soulier syndrome) or aggregation receptors (integrin αIIbβ3, Glanzmann thrombasthenia) to defects of ...
Kathleen Freson +2 more
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Genomics of platelet disorders [PDF]
Haemophilia, 2016 Genetic diagnosis in families with inherited platelet disorders (IPD) is not performed widely because of the genetic heterogeneity of this group of disorders and because in most cases, it is not possible to select single candidate genes for analysis using clinical and laboratory phenotypes. Next‐generation sequencing (NGS) technology has revolutionized
S. K. Westbury, A. D. Mumford
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Platelets, 2023 GALE gene encodes the uridine diphosphate [UDP]-galactose-4-epimerase, which catalyzes the bidirectional interconversion of UDP-glucose to UDP-galactose, and UDP-N-acetyl-glucosamine to UDP-N-acetyl-galactosamine.
Ana Marín-Quílez +5 more
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