Showing papers on "Blood Platelet Disorders published in 2019"
National Institute for Health Research1, University of Cambridge2, Maastricht University3, Medical University of Vienna4, Cambridge University Hospitals NHS Foundation Trust5, Imperial College London6, NHS Blood and Transplant7, Austrian Academy of Sciences8, Shaare Zedek Medical Center9, Queen Mary University of London10, Katholieke Universiteit Leuven11, University of Bristol12, Maastricht University Medical Centre13, University College London14, Royal Free Hospital15
TL;DR: A molecular diagnosis has been reported for 894 index patients providing evidence that introducing an HTS genetic test is a valuable addition to laboratory diagnostics in patients with a high likelihood of having an inherited BTPD.
112 citations
TL;DR: Platelets in TIC are widely impaired early after injury, but platelet activatability is intact, which suggests a mechanism of transient platelet cytoskeletal/integrin dysfunction during TIC.
25 citations
TL;DR: The relationships between the clinical and laboratory phenotype and genotype of six unrelated pedigrees comprising ten patients with clinical suspicion of HPS established a proof of principle that HTS can be considered and used in the first-line diagnosis of patients with biological and clinical manifestations suggestive of H PS.
Abstract: Background: Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad of often-serious clinical complicat...
9 citations
TL;DR: The data suggest that the A2a receptor could be potential target for a resuscitation strategy that could attenuate or prevent platelet dysfunction after trauma by preventing stimulation of adenylate cyclase and synthesis of cAMP.
3 citations
TL;DR: The most surprising finding was that, even in those in whom treatment raised the platelet count, fatigue was not always alleviated and issues and others remain to be clarified as the authors further unravel the complexity of ITP.
3 citations
3 citations
TL;DR: ROTEM has the capacity to detect platelet dysfunction associated with bleeding in severely thrombocytopenic patients and demonstrated that subjects with a bleeding phenotype had a reduced platelet contribution to clot formation in comparison to their non-bleeding counterparts.
3 citations
TL;DR: The safety and efficacy of efgartigimod in adult patients with primary ITP in a randomized, double-blinded, placebo-controlled Phase 2 study was well tolerated and the safety profile was consistent with previous observations in healthy volunteers.
2 citations
TL;DR: A case of a 17-year-old female with a past medical history of thrombocytopenia, first identified at the age of five, and clinical symptomatology included chronic fatigue, gingival bleeding, bruising, menorrhagia, and leg pain is presented.
Abstract: Storage pool deficiency (SPD) is a group of rare platelet disorders that result from deficiencies in α-granules, δ-granules, or both. One type of α-SPD is gray platelet syndrome (GPS), caused by mutations in the neurobeachin-like 2 (NBEAL2) gene that results in a bleeding diathesis, thrombocytopenia, splenomegaly, and progressive myelofibrosis. Due to the lack of α-granules, platelets have a gray and degranulated appearance by light microscopy. However, definitive diagnosis of GPS requires confirmation of α-granule deficiency by electron microscopy. Treatment is nonspecific, with the conservative utilization of platelet transfusions being the most important form of therapy. We present a case of a 17-year-old female with a past medical history of thrombocytopenia, first identified at the age of five. Her clinical symptomatology included chronic fatigue, gingival bleeding, bruising, menorrhagia, and leg pain. This report will discuss both the clinical and the pathophysiologic aspects of this rare platelet disorder.
1 citations
TL;DR: The landscape of clonal evolution in FPDMM patients and to compare germline RUNX1MT with somatic mutations is defined and myeloid clonal Evolution in MDS/MPN overlap syndromes is compared.
1 citations
TL;DR: The first safety and efficacy data of 5 day cold stored platelets in plasma is reported, and Surprisingly, platelets isolated from recipients of room temperature-stored platelets aggregated significantly better in response to collagen compared to platelet isolated from recipient of cold-storing platelets at 1h and 4h post transfusion.
TL;DR: These are the first patients with myeloid malignancies associated with acquired severe platelet dysfunction and overproduction of cAMP, and platelet aggregation/ATP secretion, serum thromboxane B2, intraplatelet content of ADP, ATP, serotonin, and fibrinogen were severely impaired.
Abstract: The pathophysiology of impaired platelet function in acquired disorders is often poorly understood. We report two unrelated patients with hematologic malignancies associated with acquired s...