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Mechanisms underlying platelet function defect in a pedigree with familial platelet disorder with a predisposition to acute myelogenous leukemia: potential role for candidate RUNX1 targets
(Wiley, 2014-05)
Background: Familial platelet disorder with a predisposition to acute myelogenous leukemia (FPD/AML) is an inherited platelet disorder caused by a germline RUNX1 mutation and characterized by thrombocytopenia, a platelet ...
The Utility Of International Society On Thrombosis And Haemostasis-bleeding Assessment Tool And Other Bleeding Questionnaires In Assessing The Bleeding Phenotype In Two Platelet Function Defects
(Lippincott Williams & WilkinsPhiladelphia, 2016)
Laboratory Assessment of Familial, Nonthrombocytopenic Bleeding: A Definitive Not Possible Mucocutaneous Diagnosis Is Often Not Possible
(THIEME MEDICAL PUBL INC, 2008)
Patients with inherited mucocutaneous bleeding (MCB) pose frequent and significant diagnostic challenges. Bleeding symptoms are frequent among the otherwise healthy population, and the clinical distinction between normal ...
Tranexamic acid inhibits fibrinolysis, shortens the bleeding time and improves platelet function in patients with chronic renal failure
(F K SCHATTAUER VERLAG GMBH, 1999)
Background: A defect in platelet function is the main determinant of the prolonged bleeding time in chronic renal failure (CRF). We previously reported a significant correlation between platelet abnormalities and elevated ...
Diagnosis of mild platelet function disorders. Reliability and usefulness of light transmission platelet aggregation and serotonin secretion assays
(WILEY-BLACKWELL PUBLISHING, INC, 2009)
P>Light transmission platelet aggregation (PA), adapted to measure platelet secretion (PS), is the reference test for diagnosing platelet functional disorders (PFD). Problems with these assays include lack of standardisation, ...
Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp)
(Taylor & Francis Ltd, 2018-01)
Congenital platelet function disorders are often the result of defects in critical signal transduction pathways required for platelet adhesion and clot formation. Mutations affecting RASGRP2, the gene encoding the Rap ...
Is my patient a bleeder? A diagnostic framework for mild bleeding disorders
(AMER SOC HEMATOLOGY, 2012)
Congenital mild bleeding disorders (MBDs) are very prevalent and are the source of frequent diagnostic problems. Most MBDs are categorized as disorders of primary hemostasis (ie, type 1 VWD and platelet function disorders), ...
Platelet-Rich Plasma, Low-Level Laser Therapy, or Their Combination Promotes Periodontal Regeneration in Fenestration Defects: A Preliminary In Vivo Study
(Amer Acad Periodontology, 2014-06-01)
Background: This study histomorphometrically analyzes the influence of platelet- rich plasma (PRP), low- level laser therapy (LLLT), or their combination on the healing of periodontal fenestration defects (PFDs) in ...
Osseous Flap of Galea and Periosteum Filled with Mesenchymal Stem Cells, Platelet-Rich Plasma, Bone Dust, and Hyaluronic Acid
(2017-10-01)
Reconstructive surgery to craniofacial deformities caused by tumor ressections, traumas or congenital malformation are frequent in medicine practice. It aims to provide the patients with better quality of life and functional ...
RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM)
(Elsevier Inc, 2017-04)
In this review, we discuss disease-causing alterations of RUNT-related transcription factor 1 (RUNX1), a master regulator of hematopoietic differentiation. Familial platelet disorder with predisposition to myeloid leukemia ...