FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4377024042> ?p ?o ?g. }

• W4377024042 endingPage "871" @default.
• W4377024042 startingPage "869" @default.
• W4377024042 abstract "A 19-year-old woman was addressed to the Haemophilia Treatment Center in august 2022 due to thrombocytopenia on complete blood count (CBC). Medical examination did not reveal any signs of bleeding on a daily basis, and she experienced appendectomy and avulsion of deciduous teeth without bleeding. ISTH bleeding assessment tool was 0. There was no family history of bleeding or thrombocytopenia. CBC performed in the laboratory on XN10 analyzer (Sysmex) disclosed a thrombocytopenia, (66 × 109·L−1) by fluorocytometry. Mean platelet volume was not assessable due to platelet anisocytosis. Furthermore, immature platelet fraction was dramatically increased at 47.7%. Routine coagulation tests (PT, APTT, fibrinogen activity) were normal, and there was no von Willebrand Factor deficiency. Platelet aggregation assay revealed no abnormality. Glycoprotein receptors GpIb and GpIIbIIIa were present (GpIb 30800 and GpIIbIIIa 46437 receptors per platelet, normal values of respectively 27000–49000 and 37000–65000). Other common causes of thrombocytopenia were excluded: platelet antibodies detection by flow cytometry or by monoclonal antibody immobilized platelet antigen assay (MAIPA kit, apDia) were negative, thyroid stimulating hormone was normal, antinuclear antibodies and viral serologies for Hepatitis B virus, Hepatitis C virus and human immunodeficiency virus were negative, and there was no lupus anticoagulant. Examination of the peripheral blood smear showed abnormal neutrophils with typical Döhle-like inclusions in almost 100% in the neutrophils (Figure 1A). A strong platelets anisocytosis was observed with presence of macroplatelets and giant platelets (Figure 1B). Immunofluorecence labelling for non-muscle myosin heavy chain IIA (NMHC-IIA) protein showed small aggregates of the protein in granulocytes compared to normal control (Figure 1C,D). To confirm diagnosis, we performed a gene test for MYH9-related disease. Sequencing analysis revealed a novel c.3131_3151dup p.(Gln1044_Arg1050dup) duplication in exon 25 of MYH9 gene. This sequence variation was not found in her parents (the true paternity was confirmed) or in her siblings who all had normal platelet count and volume (Figure 2) confirming the de novo status of this variation. The de novo status of the mutation and the functional study of the protein by immunofluorescence are two strong arguments to classify this new mutation as probably pathogenic according to the American College of Medical Genetics and Genomics classification (ACMG 4) [1]. MYH9-related disease is a rare illness involving multiple organs such as ear, eyes, kidneys, liver and blood cells [2]. At the time of diagnosis, the patient had a normal renal function and no signs of hearing or sight loss. Mutations in exon 25 can lead to modification of the structure of the helical tail of the protein with a lower risk of extra hematological manifestations than variants affecting the globular head [3]. Indeed, variants resulting in modifications of the terminal part of the helical tail or in the non-helical tail are normally associated with isolated macrothrombocytopenia [3]. Thrombocytopenia is also less severe in variants affecting amino acid of the helical tail compared to variants in the globular head [4]. MYH9 syndrome is the leading cause of macrothrombocytopenia. The presence of Döhle-like inclusions in granulocytes confirmed by immunofluorescence analysis is a pathognomonic sign of this disorder [5]. However, the presence of these inclusion bodies in granulocytes is not constant. Thus, in the case of macrothrombocytopenia, genetic analysis is essential to avoid misdiagnosing MYH9-related disease and delaying the patient's management. Antoine Babuty, Pierre Boisseau and Marion Eveillard performed the research. Antoine Babuty, Pierre Boisseau, Nicolas Drillaud, Marion Eveillard and Marc Fouassier wrote the paper. The authors have no conflict of interest to declare. This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors. According with French regulations, the patient's oral consent was obtained. The data that support the findings of this study are available from the corresponding author upon reasonable request." @default.
• W4377024042 created "2023-05-19" @default.
• W4377024042 creator A5020343032 @default.
• W4377024042 creator A5022025860 @default.
• W4377024042 creator A5065367573 @default.
• W4377024042 creator A5068506732 @default.
• W4377024042 creator A5088605543 @default.
• W4377024042 date "2023-05-17" @default.
• W4377024042 modified "2023-09-30" @default.
• W4377024042 title "MYH9‐related disease: Assessment of the pathogenicity of a new mutation" @default.
• W4377024042 cites W2014873062 @default.
• W4377024042 cites W2051978340 @default.
• W4377024042 cites W2052002407 @default.
• W4377024042 cites W2142383036 @default.
• W4377024042 cites W2802101579 @default.
• W4377024042 doi "https://doi.org/10.1002/jha2.715" @default.
• W4377024042 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37601883" @default.
• W4377024042 hasPublicationYear "2023" @default.
• W4377024042 type Work @default.
• W4377024042 citedByCount "0" @default.
• W4377024042 crossrefType "journal-article" @default.
• W4377024042 hasAuthorship W4377024042A5020343032 @default.
• W4377024042 hasAuthorship W4377024042A5022025860 @default.
• W4377024042 hasAuthorship W4377024042A5065367573 @default.
• W4377024042 hasAuthorship W4377024042A5068506732 @default.
• W4377024042 hasAuthorship W4377024042A5088605543 @default.
• W4377024042 hasBestOaLocation W43770240421 @default.
• W4377024042 hasConcept C126322002 @default.
• W4377024042 hasConcept C142724271 @default.
• W4377024042 hasConcept C149443304 @default.
• W4377024042 hasConcept C159654299 @default.
• W4377024042 hasConcept C163764329 @default.
• W4377024042 hasConcept C203014093 @default.
• W4377024042 hasConcept C2777901627 @default.
• W4377024042 hasConcept C2778248108 @default.
• W4377024042 hasConcept C2778589496 @default.
• W4377024042 hasConcept C2780022809 @default.
• W4377024042 hasConcept C71924100 @default.
• W4377024042 hasConcept C89560881 @default.
• W4377024042 hasConcept C90924648 @default.
• W4377024042 hasConceptScore W4377024042C126322002 @default.
• W4377024042 hasConceptScore W4377024042C142724271 @default.
• W4377024042 hasConceptScore W4377024042C149443304 @default.
• W4377024042 hasConceptScore W4377024042C159654299 @default.
• W4377024042 hasConceptScore W4377024042C163764329 @default.
• W4377024042 hasConceptScore W4377024042C203014093 @default.
• W4377024042 hasConceptScore W4377024042C2777901627 @default.
• W4377024042 hasConceptScore W4377024042C2778248108 @default.
• W4377024042 hasConceptScore W4377024042C2778589496 @default.
• W4377024042 hasConceptScore W4377024042C2780022809 @default.
• W4377024042 hasConceptScore W4377024042C71924100 @default.
• W4377024042 hasConceptScore W4377024042C89560881 @default.
• W4377024042 hasConceptScore W4377024042C90924648 @default.
• W4377024042 hasIssue "3" @default.
• W4377024042 hasLocation W43770240421 @default.
• W4377024042 hasLocation W43770240422 @default.
• W4377024042 hasOpenAccess W4377024042 @default.
• W4377024042 hasPrimaryLocation W43770240421 @default.
• W4377024042 hasRelatedWork W1262896027 @default.
• W4377024042 hasRelatedWork W2003611106 @default.
• W4377024042 hasRelatedWork W2006349812 @default.
• W4377024042 hasRelatedWork W2009370759 @default.
• W4377024042 hasRelatedWork W2010852600 @default.
• W4377024042 hasRelatedWork W2043461536 @default.
• W4377024042 hasRelatedWork W2078610240 @default.
• W4377024042 hasRelatedWork W2402669007 @default.
• W4377024042 hasRelatedWork W2404126181 @default.
• W4377024042 hasRelatedWork W2410665419 @default.
• W4377024042 hasVolume "4" @default.
• W4377024042 isParatext "false" @default.
• W4377024042 isRetracted "false" @default.
• W4377024042 workType "article" @default.