Novel approaches for diagnosing inherited platelet disorders.
Sign Up to like & getrecommendations! Published in 2017 at "Medicina Clinica"
DOI: 10.1016/j.medcle.2016.09.033
Abstract: Abstract Inherited platelet disorders diagnosis is based on the clinical history and bleeding assessment tools. The laboratory functional assays as well as the molecular test to identify the pathogenic genetic variant are essential to confirm… read more here.
Keywords: diagnosing inherited; novel approaches; inherited platelet; approaches diagnosing ... See more keywords
Screening and diagnosis of inherited platelet disorders.
Sign Up to like & getrecommendations! Published in 2022 at "Critical reviews in clinical laboratory sciences"
DOI: 10.1080/10408363.2022.2049199
Abstract: Inherited platelet disorders are important conditions that often manifest with bleeding. These disorders have heterogeneous underlying pathologies. Some are syndromic disorders with non-blood phenotypic features, and others are associated with an increased predisposition to developing… read more here.
Keywords: platelet disorders; inherited platelet; platelet function; screening diagnosis ... See more keywords
Comprehensive Platelet Phenotypic Laboratory Testing and Bleeding History Scoring for Diagnosis of Suspected Hereditary Platelet Disorders: A Single-Institution Experience
Sign Up to like & getrecommendations! Published in 2017 at "American Journal of Clinical Pathology"
DOI: 10.1093/ajcp/aqx038
Abstract: Objectives Patients with hereditary/congenital platelet disorders (HPDs) have a broad range of clinical manifestations and laboratory phenotypes. We assessed the performance characteristics of the International Society on Thrombosis and Haemostasis bleeding assessment tool (ISTH-BAT) and… read more here.
Keywords: laboratory testing; platelet disorders; laboratory; platelet ... See more keywords
Recent advances in inherited platelet disorders.
Sign Up to like & getrecommendations! Published in 2019 at "Current Opinion in Hematology"
DOI: 10.1097/moh.0000000000000525
Abstract: PURPOSE OF REVIEW The increasing use of high throughput sequencing and genomic analysis has facilitated the discovery of new causes of inherited platelet disorders. Studies of these disorders and their respective mouse models have been… read more here.
Keywords: inherited platelet; advances inherited; platelet disorders; recent advances ... See more keywords
Modeling genetic platelet disorders with human pluripotent stem cells: mega-progress but wanting more on our plate(let)
Sign Up to like & getrecommendations! Published in 2021 at "Current Opinion in Hematology"
DOI: 10.1097/moh.0000000000000671
Abstract: Purpose of review Megakaryocytes are rare hematopoietic cells that play an instrumental role in hemostasis, and other important biological processes such as immunity and wound healing. With the advent of cell reprogramming technologies and advances… read more here.
Keywords: pluripotent stem; platelet disorders; genetic platelet; platelet ... See more keywords
Inherited platelet disorders: From new variants to new knowledge
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Haematology"
DOI: 10.1111/bjh.18074
Abstract: In this issue of the British Journal of Haematology, Kawankar et al. report the results of a study where highthroughput exome sequencing and genomic bioinformatics analysis identified patients homozygous for two known and six novel… read more here.
Keywords: rasgrp2; inherited platelet; platelet disorders; patients homozygous ... See more keywords
Strengths and limitations of high‐throughput sequencing for the diagnosis of inherited bleeding and platelet disorders
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.14945
Abstract: Inherited bleeding and platelet disorders (BPD) are highly heterogeneous and their diagnosis involves a combination of clinical investigations, laboratory tests, and genetic screening. This review will outline some of the challenges that geneticists and experts… read more here.
Keywords: diagnosis; inherited bleeding; bleeding platelet; platelet disorders ... See more keywords
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.15459
Abstract: The implementation of high‐throughput sequencing (HTS) technologies in research and diagnostic laboratories has linked many new genes to rare bleeding, thrombotic, and platelet disorders (BTPD), and revealed multiple genetic variants linked to those disorders, many… read more here.
Keywords: goldvariants resource; genetic variants; thrombotic platelet; platelet disorders ... See more keywords
Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications
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DOI: 10.1126/scitranslmed.aay0203
Abstract: In select platelet disorders, dysfunctional endogenous platelets affect the hemostatic activity of transfused platelets by multiple mechanisms. Strength in numbers (of platelets) Platelet transfusions are effective at restoring hemostasis in patients with low platelet counts,… read more here.
Keywords: acquired platelet; hemostatic activity; transfused platelets; platelet disorders ... See more keywords
Introduction to a series of reviews on clinical platelet disorders.
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DOI: 10.1182/blood-2017-04-773507
Abstract: In the 21st century, many of the exciting advances in understanding platelet function have had to do with the roles these anucleate cellular elements play in processes other than their well-known activities as agents that… read more here.
Keywords: series reviews; introduction series; clinical platelet; reviews clinical ... See more keywords
Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier.
Sign Up to like & getrecommendations! Published in 2019 at "Blood"
DOI: 10.1182/blood-2019-01-852350
Abstract: The molecular causes of many inherited platelet disorders are being unraveled. Next-generation sequencing facilitates diagnosis in 30% to 50% of patients. However, interpretation of genetic variants is challenging and requires careful evaluation in the context… read more here.
Keywords: diagnosis inherited; simplifying diagnosis; inherited platelet; platelet disorders ... See more keywords