Database : MEDLINE
Search on : Thrombasthenia [Words]
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[PMID]: 29486748
[Au] Autor:Lu M; Yang X
[Ad] Address:Gynecology and Obstetrics Department, Peking University People's Hospital, Xi zhi men South Street 11, Xi cheng District, Beijing, PR100044, China.
[Ti] Title:Levonorgestrel-releasing intrauterine system for treatment of heavy menstrual bleeding in adolescents with Glanzmann's Thrombasthenia: illustrated case series.
[So] Source:BMC Womens Health;18(1):45, 2018 Feb 27.
[Is] ISSN:1472-6874
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Glanzmann's Thrombasthenia (GT) is an inherited genetic disorder caused by defects in the platelet membrane glycoproteins IIb/IIIA, and is associated with heavy menstrual bleeding (HMB). HMB is a common complication in female patients, and many adolescent girls with this disease have issues with HMB beginning at menarche. The available treatment modalities including anti-fibrinolytics, nonsteroidal anti-inflammatory drugs (NSAIDs) and hormonal therapies though are effective, their associated side effects, limited efficacy and the poor compliance is a challenge in management of HMB. Levonorgestrel-releasing intrauterine system (LNG-IUS) has been a potential alternative to overcome this challenge. The use of the LNG-IUS for the management of HMB in adolescents with GT is explored in this case series. CASE PRESENTATION: Two adolescents diagnosed with GT and received the LNG-IUS as treatment modality for management of HMB is discussed in this case series. CONCLUSIONS: For patients with poor compliance to oral hormonal therapies, the use of LNG-IUS is associated with a significant reduction of menstrual blood loss along with improved quality of life. These findings support the use of LNG-IUS to control adolescent GT-related HMB.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.1186/s12905-018-0533-0

  2 / 1353 MEDLINE  
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[PMID]: 29474205
[Au] Autor:Kurdi M; Frère C; Amour J; Brumpt C; Delort J; Lebreton G; Croisille L; d'Oiron R; Martin-Toutain I
[Ad] Address:Department of Biological Hematology.
[Ti] Title:Perioperative management of a patient with Glanzmann thrombasthenia undergoing a coronary artery bypass graft surgery: a case report.
[So] Source:Blood Coagul Fibrinolysis;, 2018 Feb 22.
[Is] ISSN:1473-5733
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:: We report herein the successful perioperative management of a 57-year-old man with a type I Glanzmann thrombasthenia undergoing coronary artery bypass graft surgery and right carotid endarterectomy. The patient suffered from several lesions in the three major coronary arteries and in the right carotid necessitating surgery. Prophylactic human leukocyte antigen (HLA)-matched platelets transfusions were continuous administrated before, and through the immediate perioperative period. Posttransfusion platelet recovery was monitored using flow cytometry to determine the percentage of circulating platelet expressing CD61 (ß3). No bleeding complications occurred during and following the procedure. The patient did not develop HLA antibodies or αIIbß3 antibodies. Thrombophilia screening revealed a heterozygous G20210A prothrombin gene mutation. The patient also suffered from an atrial fibrillation, necessitating anticoagulation therapy. During the hospital stay, a treatment with vitamin K antagonists for stroke prevention was initiated. The patient was discharged 8 days following surgery, and no further complications occurred during the 6 months follow-up.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180223
[Lr] Last revision date:180223
[St] Status:Publisher
[do] DOI:10.1097/MBC.0000000000000719

  3 / 1353 MEDLINE  
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[PMID]: 29439184
[Au] Autor:Bury L; Zetterberg E; Leinoe EB; Falcinelli E; Marturano A; Manni G; Nurden AT; Gresele P
[Ad] Address:Dept. of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia; loredana.bury@unipg.it.
[Ti] Title:A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations.
[So] Source:Haematologica;, 2018 Feb 08.
[Is] ISSN:1592-8721
[Cp] Country of publication:Italy
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:Publisher

  4 / 1353 MEDLINE  
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[PMID]: 29385657
[Au] Autor:Pillois X; Peters P; Segers K; Nurden AT
[Ad] Address:Institut de Rhythmologie et de Modélisation Cardiaque, Plateforme Technologique d'Innovation Biomédicale, Hôpital Xavier Arnozan, Bordeaux, France.
[Ti] Title:In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia.
[So] Source:Mol Genet Genomic Med;, 2018 Jan 31.
[Is] ISSN:2324-9269
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Studies on the inherited bleeding disorder, Glanzmann thrombasthenia (GT), have helped define the role of the αIIbß3 integrin in platelet aggregation. Stable bent αIIbß3 undergoes conformation changes on activation allowing fibrinogen binding and its taking an extended form. The αIIb genu assures the fulcrum of the bent state. Our goal was to determine how structural changes induced by missense mutations in the αIIb genu define GT phenotype. METHODS: Sanger sequencing of ITGA2B and ITGB3 in the index case followed by in silico modeling of all known GT-causing missense mutations extending from the lower part of the ß-propeller, and through the thigh and upper calf-1 domains. RESULTS: A homozygous c.1772A>C transversion in exon 18 of ITGA2B coding for a p.Asp591Ala substitution in an interconnecting loop of the lower thigh domain of αIIb in a patient with platelets lacking αIIbß3 led us to extend our in silico modeling to all 16 published disease-causing missense variants potentially affecting the αIIb genu. Modifications of structuring H-bonding were the major cause in the thigh domain although one mutation gave mRNA decay. In contrast, short-range changes induced in calf-1 appeared minor suggesting long-range effects. All result in severe to total loss of αIIbß3 in platelets. The absence of mutations within a key Ca2+-binding loop in the genu led us to scan public databases; three potential single allele variants giving major structural changes were identiffied suggesting that this key region is not protected from genetic variation. CONCLUSIONS: It appears that the αIIb genu is the object of stringent quality control to prevent platelets from circulating with activated and extended integrin.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180131
[Lr] Last revision date:180131
[St] Status:Publisher
[do] DOI:10.1002/mgg3.365

  5 / 1353 MEDLINE  
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[PMID]: 29227167
[Au] Autor:Andres O; Henning K; Strauß G; Pflug A; Manukjan G; Schulze H
[Ad] Address:a University Children's Hospital , Würzburg , Germany.
[Ti] Title:Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach.
[So] Source:Platelets;:1-10, 2017 Dec 11.
[Is] ISSN:1369-1635
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:A high proportion of patients with mucocutaneous bleeding diathesis and suspected inherited or acquired platelet disorder remain without diagnosis even after comprehensive laboratory testing. Since flow cytometry allows investigation of resting and activated platelets on the single cell level by requiring only minimal amounts of blood, this method has become an important assay within the diagnostic algorithm, especially in pediatrics. We therefore developed a standardized and modular flow cytometric approach that contributes to clarify impaired platelet function in a rational step-by-step manner. Due to simultaneous analysis of four fluorophores in a basic panel design, we are able to readily detect the most common and clinically significant platelet disorders: Glanzmann thrombasthenia or Glanzmann-like diseases (fibrinogen receptor GPIIb-IIIa), Bernard-Soulier syndrome (von Willebrand-factor receptor complex GPIb-IX-V) and less well characterized ß1-integrins that serve as the collagen, laminin or fibronectin receptor (CD29-CD49b, e and f, respectively). Platelet reactivity was investigated in response to the agonists adenosine diphosphate (ADP) and thrombin receptor activator peptide 6 (TRAP6) in suboptimal and optimal concentrations by quantifying surface expression of activation markers CD62P and CD63 as well as binding of PAC-1 antibody to the high affinity conformation of the fibrinogen receptor. For advanced diagnostic questions, several further modules were implemented: (i) calcium mobilization for evaluation of early signal transduction, (ii) a kinetically resolved mepacrine assay for estimation of delta-granule content and release, and (iii) a module to determine platelet reactivity upon additional agonists like the thromboxane A -analogue U46619 or collagen. Blood withdrawn from a healthy control cohort allowed generating preliminary standard values for all parameters. The modules were validated by analysis of patients with known or suspected platelet defects (leukocyte-adhesion deficiency type III, Wiskott-Aldrich syndrome, acute myeloid leukemia, sickle cell disease and chronic immune thrombocytopenia).
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171211
[Lr] Last revision date:171211
[St] Status:Publisher
[do] DOI:10.1080/09537104.2017.1386297

  6 / 1353 MEDLINE  
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[PMID]: 29185819
[Au] Autor:Chauhan R; Sazawal S; Singh K; Ragesh R Nair R; Chhikara S; Deka R; Chaubey R; Veetil KK; Dange P; Mahapatra M; Saxena R
[Ad] Address:a Department of Hematology , All India Institute of Medical Sciences , New Delhi , India.
[Ti] Title:Reversal of Glanzmann thrombasthenia platelet phenotype after imatinib treatment in a pediatric chronic myeloid leukemia patient.
[So] Source:Platelets;:1-4, 2017 Nov 29.
[Is] ISSN:1369-1635
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Chronic Myelogenous Leukemia (CML) is a myeloproliferative neoplasm characterized by proliferation of Philadelphia positive clonal pluripotent hematopoietic cells. Bleeding is a rare presentation of CML that can occur due to platelet dysfunction. Both pre-treatment and post-treatment platelet function abnormalities in CML have been described in the literature. We describe a rare case of childhood CML who presented with mucocutateous bleeding manifestations. On laboratory workup, a Glanzmann Thrombasthenia (GT) like platelet phenotype was demonstrated along with confirmation of diagnosis of CML in chronic phase. The acquired nature of platelet function defect was confirmed by demonstrating recovery of platelet antigens glycoprotein IIb/IIIa after achieving complete hematological response with Imatinib. Due to presenting complaint of bleeding diathesis and absence of hepatosplenomegaly, the case was undiagnosed for CML until the patient reported to us. Careful evaluation of complete blood counts, peripheral blood picture and detailed laboratory workup was the window to proper diagnosis and treatment in this case.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171129
[Lr] Last revision date:171129
[St] Status:Publisher
[do] DOI:10.1080/09537104.2017.1384539

  7 / 1353 MEDLINE  
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[PMID]: 29152293
[Au] Autor:Cid AR; Montesinos P; Sánchez-Guiu I; Haya S; Lorenzo JI; Sanz J; Moscardo F; Puig N; Planelles D; Bonanad S; Sanz GF; Vicente V; González-Manchón C; Lozano ML; Rivera J; Sanz MA
[Ad] Address:Unidad de Hemostasia y TrombosisServicio de HematologíaHospital Universitario y Politécnico La FeValenciaSpain.
[Ti] Title:Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia.
[So] Source:Clin Case Rep;5(11):1887-1890, 2017 Nov.
[Is] ISSN:2050-0904
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Glanzmann thrombasthenia is a rare bleeding disorder that can present life-threatening bleeding. Our patients develop antiplatelet antibodies that become refractory to any pharmacological treatment. Allogeneic hematopoietic stem-cell transplantation is the only currently curative procedure, but has major risks mainly in adult; indeed, our patient died.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171122
[Lr] Last revision date:171122
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1002/ccr3.1206

  8 / 1353 MEDLINE  
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[PMID]: 29135309
[Au] Autor:Moenen FCJI; Vries MJA; Nelemans PJ; van Rooy KJM; Vranken JRRA; Verhezen PWM; Wetzels RJH; Ten Cate H; Schouten HC; Beckers EAM; Henskens YMC
[Ad] Address:a Division of Haematology, Department of Internal Medicine , GROW - School for Oncology and Developmental Biology, Maastricht University Medical Centre+ , Maastricht , The Netherlands.
[Ti] Title:Screening for platelet function disorders with Multiplate and platelet function analyzer.
[So] Source:Platelets;:1-7, 2017 Nov 14.
[Is] ISSN:1369-1635
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Light transmission aggregation (LTA) is the gold standard for the diagnosis of platelet function disorders (PFDs), but it is time-consuming and limited to specialized laboratories. Whole-blood impedance aggregometry (Multiplate) and platelet function analyzer (PFA) may be used as rapid screening tools to exclude PFDs. The aim of this study is to assess the diagnostic performance of Multiplate and PFA for PFDs, as detected by LTA.Data from preoperative patients, patients referred to the hematologist for bleeding evaluation, and patients with a diagnosed bleeding disorder were used. PFDs were defined as ≥2 abnormal LTA curves. Diagnostic performance of Multiplate and PFA for detecting PFDs was expressed as sensitivity and specificity. The ability of Multiplate agonists and PFA kits to detect corresponding LTA curve abnormalities was expressed as area under the receiver operating characteristic curve. Prevalence of PFDs was 16/335 (4.8%) in preoperative patients, 10/54 (18.5%) in referred patients, and 3/25 (12%) in patients with a diagnosed bleeding disorder. In preoperative and referred patients, the sensitivity of Multiplate and PFA for detecting mild PFDs varied between 0% and 40% and AUCs for detecting corresponding LTA curve abnormalities were close to 0.50. In patients with a diagnosed bleeding disorder, both assays could detect Glanzmann thrombasthenia (GT) with sensitivity of 100% and AUCs of 0.70-1.00. Multiplate and PFA cannot discriminate between preoperative and referred patients with and without mild PFDs, meaning that they cannot be used as screening tests to rule out mild PFDs in these populations. Both Multiplate and PFA can detect GT in previously diagnosed patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171114
[Lr] Last revision date:171114
[St] Status:Publisher
[do] DOI:10.1080/09537104.2017.1371290

  9 / 1353 MEDLINE  
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[PMID]: 29125375
[Au] Autor:Nurden AT; Pillois X
[Ad] Address:a Institut de Rhythmologie et de Modélisation Cardiaque, Plateforme Technologique d'Innovation Biomédicale, Hôpital Xavier Arnozan , Pessac , France.
[Ti] Title:ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.
[So] Source:Platelets;:1-4, 2017 Nov 10.
[Is] ISSN:1369-1635
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171110
[Lr] Last revision date:171110
[St] Status:Publisher
[do] DOI:10.1080/09537104.2017.1371291

  10 / 1353 MEDLINE  
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[PMID]: 29090587
[Au] Autor:Nava T; Rivard GE; Bonnefoy A
[Ad] Address:a Centre Hospitalier Universitaire Sainte-Justine , Hematology and Oncology Division , Montréal , QC , Canada.
[Ti] Title:Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?
[So] Source:Platelets;:1-8, 2017 Nov 01.
[Is] ISSN:1369-1635
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Inherited platelet function disorders (IPFD) have been assessed for more than 50 years by aggregation- and secretion-based tests. Several decision trees are available intending to standardize the investigation of IPFD. A large variability of approaches is still in use among the laboratories across the world. In spite of costly and lengthy laboratory evaluation, the results have been found inconclusive or negative in a significant part of patients having bleeding manifestations. Molecular investigation of newly identified IPFD has recently contributed to a better understanding of the complexity of platelet function. Once considered "classic" IPFDs, Glanzmann thrombasthenia and Bernard-Soulier syndrome have each had their pathophysiology reassessed and their diagnosis made more precise and informative. Megakaryopoiesis, platelet formation, and function have been found tightly interlinked, with several genes being involved in both inherited thrombocytopenias and impaired platelet function. Moreover, genetic approaches have moved from being used as confirmatory diagnostic tests to being tools for identification of genetic variants associated with bleeding disorders, even in the absence of a clear phenotype in functional testing. In this study, we aim to address some limits of the conventional tests used for the diagnosis of IPFD, and to highlight the potential contribution of recent molecular tools and opportunities to rethink the way we should approach the investigation of IPFD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171101
[Lr] Last revision date:171101
[St] Status:Publisher
[do] DOI:10.1080/09537104.2017.1356918


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