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https://www.readbyqxmd.com/read/29675921/clinical-and-molecular-insights-into-glanzmann-s-thrombasthenia-in-china
#1
L Zhou, M Jiang, H Shen, T You, Z Ding, Q Cui, Z Ma, F Yang, Z Xie, H Shi, J Su, L Cao, J Lin, J Yin, L Dai, H Wang, Z Wang, Z Yu, C Ruan, L Xia
Glanzmann's thrombasthenia (GT) is a rare bleeding disorder characterized by spontaneous mucocutaneous bleeding. The disorder is caused by quantitative or qualitative defects in integrin αIIbβ3 (encoded by ITGA2B and ITGB3) on the platelet and is more common in consanguineous populations. However, the prevalence rate and clinical characteristics of GT in nonconsanguineous populations have been unclear. We analyzed 97 patients from 93 families with GT in the Han population in China. This analysis showed lower consanguinity (18...
April 19, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29615672/morphometric-analysis-of-spread-platelets-identifies-integrin-%C3%AE-iib-%C3%AE-3-specific-contractile-phenotype
#2
Sebastian Lickert, Simona Sorrentino, Jan-Dirk Studt, Ohad Medalia, Viola Vogel, Ingmar Schoen
Haemostatic platelet function is intimately linked to cellular mechanics and cytoskeletal morphology. How cytoskeletal reorganizations give rise to a highly contractile phenotype that is necessary for clot contraction remains poorly understood. To elucidate this process in vitro, we developed a morphometric screen to quantify the spatial organization of actin fibres and vinculin adhesion sites in single spread platelets. Platelets from healthy donors predominantly adopted a bipolar morphology on fibrinogen and fibronectin, whereas distinguishable, more isotropic phenotypes on collagen type I or laminin...
April 3, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29611179/anti-%C3%AE-iib-%C3%AE-3-immunization-in-glanzmann-thrombasthenia-review-of-literature-and-treatment-recommendations
#3
REVIEW
Mathieu Fiore, Roseline d'Oiron, Xavier Pillois, Marie-Christine Alessi
Glanzmann thrombasthenia (GT) is caused by inherited defects of the αII b β3 platelet glycoprotein. This bleeding disorder can be treated with platelet transfusion therapy, but some patients will be immunized and begin to form anti-human leucocyte antigen (HLA) and/or anti-αII b β3 antibodies. These antibodies can bind and interfere with the function of the transfused platelets, rendering treatment ineffective. However, platelet transfusion refractoriness attributable to HLA antibodies may be managed by the selection of compatible donors, although they are not always readily available, particularly in an emergency...
April 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29575615/spectrum-of-hemostatic-disorders-in-indian-females-presenting-with-bleeding-manifestations
#4
A Gupta, P Mishra, H P Pati, S Tyagi, M Mahapatra, T Seth, R Saxena
INTRODUCTION: Hemostatic disorders are often missed in women with bleeding particularly menorrhagia. Preexisting hemostatic disorders are now known as common risk factor for postpartum hemorrhage and prolonged bleeding in puerperium. Females with bleeding complaints constitute an important population referred to hematology clinic. Hence, we aim to evaluate the type and frequency of hemostatic disorders among females presenting with bleeding in a tertiary care hospital and a basic hemostatic laboratory...
March 25, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29486748/levonorgestrel-releasing-intrauterine-system-for-treatment-of-heavy-menstrual-bleeding-in-adolescents-with-glanzmann-s-thrombasthenia-illustrated-case-series
#5
Meiqiu Lu, Xin Yang
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...
February 27, 2018: BMC Women's Health
https://www.readbyqxmd.com/read/29474205/perioperative-management-of-a-patient-with-glanzmann-thrombasthenia-undergoing-a-coronary-artery-bypass-graft-surgery-a-case-report
#6
Mohamad Kurdi, Corinne Frère, Julien Amour, Caren Brumpt, Josée Delort, Guillaume Lebreton, Laure Croisille, Roseline d'Oiron, Isabelle Martin-Toutain
: 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 (β3)...
April 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29447652/pyoderma-gangrenosum-acne-and-suppurative-hidradenitis-syndrome-in-end-stage-renal-disease-successfully-treated-with-adalimumab
#7
REVIEW
J De Wet, H F Jordaan, S M Kannenberg, B Tod, B Glanzmann, W I Visser
PASH syndrome (pyoderma gangrenosum, acne, and suppurative hidradenitis) forms part of the spectrum of autoinflammatory diseases. We report an unusual case of PASH syndrome in a patient with end-stagerenal disease (ESRD) who was successfully treated with the tumor necrosis factor inhibitor, adalimumab. The case underscores the challenges associatedwith the treatment of PASH syndrome as well as the ongoing search to establish a genetic basis for the syndrome. Renal impairment has been reported in association with pyoderma gangrenosum but has notbeen described in PASH syndrome...
December 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29439184/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
#8
Loredana Bury, Eva Zetterberg, Eva B Leinoe, Emanuela Falcinelli, Alessandro Marturano, Giorgia Manni, Alan T Nurden, Paolo Gresele
No abstract text is available yet for this article.
February 8, 2018: Haematologica
https://www.readbyqxmd.com/read/29385657/in-silico-analysis-of-structural-modifications-in-and-around-the-integrin-%C3%AE-iib-genu-caused-by-itga2b-variants-in-human-platelets-with-emphasis-on-glanzmann-thrombasthenia
#9
Xavier Pillois, Pierre Peters, Karin Segers, Alan T Nurden
BACKGROUND: Studies on the inherited bleeding disorder, Glanzmann thrombasthenia (GT), have helped define the role of the αIIbβ3 integrin in platelet aggregation. Stable bent αIIbβ3 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 β-propeller, and through the thigh and upper calf-1 domains...
March 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29230214/exome-sequencing-identifies-a-novel-map3k14-mutation-in-recessive-atypical-combined-immunodeficiency
#10
Nikola Schlechter, Brigitte Glanzmann, Eileen Garner Hoal, Mardelle Schoeman, Britt-Sabina Petersen, Andre Franke, Yu-Lung Lau, Michael Urban, Paul David van Helden, Monika Maria Esser, Marlo Möller, Craig Kinnear
Primary immunodeficiency disorders (PIDs) render patients vulnerable to infection with a wide range of microorganisms and thus provide good in vivo models for the assessment of immune responses during infectious challenges. Priming of the immune system, especially in infancy, depends on different environmental exposures and medical practices. This may determine the timing and phenotype of clinical appearance of immune deficits as exemplified with early exposure to Bacillus Calmette-Guérin (BCG) vaccination and dissemination in combined immunodeficiencies...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29227167/diagnosis-of-platelet-function-disorders-a-standardized-rational-and-modular-flow-cytometric-approach
#11
Oliver Andres, Katja Henning, Gabriele Strauß, Annerose Pflug, Georgi Manukjan, Harald Schulze
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...
December 11, 2017: Platelets
https://www.readbyqxmd.com/read/29210180/platelet-collagen-receptor-glycoprotein-vi-dimer-recognizes-fibrinogen-and-fibrin-through-their-d-domains-contributing-to-platelet-adhesion-and-activation-during-thrombus-formation
#12
I Induruwa, M Moroi, A Bonna, J-D Malcor, J-M Howes, E A Warburton, R W Farndale, S M Jung
Essentials Glycoprotein VI (GPVI) binds collagen, starting thrombogenesis, and fibrin, stabilizing thrombi. GPVI-dimers, not monomers, recognize immobilized fibrinogen and fibrin through their D-domains. Collagen, D-fragment and D-dimer may share a common or proximate binding site(s) on GPVI-dimer. GPVI-dimer-fibrin interaction supports spreading, activation and adhesion involving αIIbβ3. SUMMARY: Background Platelet collagen receptor Glycoprotein VI (GPVI) binds collagen, initiating thrombogenesis, and stabilizes thrombi by binding fibrin...
February 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29185819/reversal-of-glanzmann-thrombasthenia-platelet-phenotype-after-imatinib-treatment-in-a-pediatric-chronic-myeloid-leukemia-patient
#13
Richa Chauhan, Sudha Sazawal, Kanwaljeet Singh, R Ragesh R Nair, Sunita Chhikara, Roopam Deka, Rekha Chaubey, Karthika Kundil Veetil, Prasad Dange, Manoranjan Mahapatra, Renu Saxena
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...
November 29, 2017: Platelets
https://www.readbyqxmd.com/read/29152293/allogeneic-hematopoietic-cell-transplantation-in-an-adult-patient-with-glanzmann-thrombasthenia
#14
Ana R Cid, Pau Montesinos, Isabel Sánchez-Guiu, Saturnino Haya, Jose I Lorenzo, Jaime Sanz, Federico Moscardo, Nieves Puig, Dolores Planelles, Santiago Bonanad, Guillermo F Sanz, Vicente Vicente, Consuelo González-Manchón, María L Lozano, José Rivera, Miguel A Sanz
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.
November 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29135309/screening-for-platelet-function-disorders-with-multiplate-and-platelet-function-analyzer
#15
Floor C J I Moenen, Minka J A Vries, Patricia J Nelemans, Katrien J M van Rooy, Jeannique R R A Vranken, Paul W M Verhezen, Rick J H Wetzels, Hugo Ten Cate, Harry C Schouten, Erik A M Beckers, Yvonne M C Henskens
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...
November 14, 2017: Platelets
https://www.readbyqxmd.com/read/29125375/itga2b-and-itgb3-gene-mutations-associated-with-glanzmann-thrombasthenia
#16
Alan T Nurden, Xavier Pillois
No abstract text is available yet for this article.
January 2018: Platelets
https://www.readbyqxmd.com/read/29090587/challenges-on-the-diagnostic-approach-of-inherited-platelet-function-disorders-is-a-paradigm-change-necessary
#17
Tiago Nava, Georges-Etienne Rivard, Arnaud Bonnefoy
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...
November 1, 2017: Platelets
https://www.readbyqxmd.com/read/29084015/molecular-characterization-of-glanzmann-s-thrombasthenia-in-iran-identification-of-three-novel-mutations
#18
Ahmad Kazemi, Hassan Abolghasemi, Shima Kazemzadeh, Reza Vahidi, Mohammad Faranoush, Alireza Farsinejad, Fereydoun Ala
: Quantitative and/or qualitative defects of the platelet membrane glycoprotein IIb/IIIa complex lead to the clinical entity of Glanzmann's thrombasthenia. A large variety of mutations and polymorphisms are responsible for the aberrant expression and defective activity of this heterodimeric complex. The current study aimed to determine the pattern of mutations among Iranian population with Glanzmann's thrombasthenia. A total of 20 patients with Glanzmann's thrombasthenia have been evaluated. All exons and splice sites of ITGA2B and ITGB3 genes were amplified using touchdown PCR...
December 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29080903/human-endoglin-as-a-potential-new-partner-involved-in-platelet-endothelium-interactions
#19
Elisa Rossi, Miguel Pericacho, Christilla Bachelot-Loza, Dominique Pidard, Pascale Gaussem, Sonia Poirault-Chassac, Francisco J Blanco, Carmen Langa, Consuelo González-Manchón, Jose M Lopez Novoa, David M Smadja, Carmelo Bernabeu
Complex interactions between platelets and activated endothelium occur during the thrombo-inflammatory reaction at sites of vascular injuries and during vascular hemostasis. The endothelial receptor endoglin is involved in inflammation through integrin-mediated leukocyte adhesion and transmigration; and heterozygous mutations in the endoglin gene cause hereditary hemorrhagic telangiectasia type 1. This vascular disease is characterized by a bleeding tendency that is postulated to be a consequence of telangiectasia fragility rather than a platelet defect, since platelets display normal functions in vitro in this condition...
April 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29063905/a-rare-case-of-bleeding-disorder-glanzmann-s-thrombasthenia
#20
Jami Swathi, A Gowrishankar, S A Jayakumar, Karun Jain
BACKGROUND: Glanzmann's thrombasthenia (GT) is a rare bleeding disorder, which is characterized by a lack of platelet aggregation. It is characterized by qualitative or quantitative abnormalities of the platelet membrane glycoprotein IIb/IIIa. Physiologically, this platelet receptor normally binds several adhesive plasma proteins, and this facilitates attachment and aggregation of platelets to ensure thrombus formation at sites of vascular injury. The lack of resultant platelet aggregation in GT leads to mucocutaneous bleeding whose manifestation may be clinically variable, ranging from easy bruising to severe and potentially life-threatening hemorrhages...
October 2017: Annals of African Medicine
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