keyword
https://read.qxmd.com/read/38499192/glanzmann-thrombasthenia-10-years-later-progress-made-and-future-directions
#1
JOURNAL ARTICLE
Alan T Nurden, Paquita Nurden
Glanzmann thrombasthenia (GT) is the most common inherited platelet disorder (IPD) with mucocutaneous bleeding and a failure of platelets to aggregate when stimulated. The molecular cause is insufficient or defective αIIbβ3, an integrin encoded by the ITGA2B and ITGB3 genes. On activation αIIbβ3 undergoes conformational changes and binds fibrinogen (Fg) and other proteins to join platelets in the aggregate. The application of next-generation sequencing (NGS) to patients with IPDs has accelerated genotyping for GT; progress accompanied by improved mutation curation...
March 18, 2024: Seminars in Thrombosis and Hemostasis
https://read.qxmd.com/read/38477834/frequency-clinical-and-laboratory-findings-of-platelet-secretion-disorders-in-patients-referred-to-the-specialized-coagulation-laboratory-of-the-iranian-blood-transfusion-organization
#2
JOURNAL ARTICLE
Massoumeh Shahbazi, Minoo Ahmadinejad, Vahid Pirhajati Mahabadi, Amir Teimourpour, Khadijeh Golzadeh
OBJECTIVES: Platelet secretion disorders (PSDs) are a subgroup of platelet function disorders (PFDs) caused by defects in the content or release of platelet granules. These patients have a variable degree of mucocutaneous bleeding tendency. The diagnostic facilities of PSDs are imitated in Iran, even in specialized coagulation laboratories. The present study aims to estimate the frequency of PSDs among patients referred to the Iranian Blood Transfusion Organization (IBTO). METHODS: The research population includes all patients referred to the specialized coagulation laboratory of IBTO and requested platelet function and von Willebrand testing by their physicians...
March 12, 2024: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://read.qxmd.com/read/38439143/immune-gene-polymorphisms-associated-with-poor-response-to-platelet-transfusion-and-recombinant-factor-vii-administration-in-glanzmann-thrombasthenia
#3
JOURNAL ARTICLE
Majid Naderi, Ilia Mirzaei, Omid Seidizadeh, Abolfazl Parsi Moud, Hosna Sarani, Amir Avan, Mohsen Taheri, Danial Jahantigh, Mohammad Reza Keramati, Tayebeh Sohrabi
INTRODUCTION: Poor response to platelet and recombinant factor VII administration is a major problem in patients with Glanzmann Thrombasthenia (GT). The risk factors associated with poor response to treatment in these patients are unknown. Some genetic variations of cytokines may contribute to therapy resistance. AIMS: We evaluated, for the first time, whether genetic polymorphisms on cytokine genes are related to poor treatment response in GT patients. METHODS: We enrolled 30 patients with GT (15 resistant and 15 non-resistant) and 100 healthy controls...
March 4, 2024: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://read.qxmd.com/read/38426552/a-novel-itga2b-double-cytosine-frameshift-variant-c-1986_1987inscc-leads-to-glanzmann-s-thrombasthenia-in-a-cat
#4
JOURNAL ARTICLE
Victor N Rivas, Avalene W K Tan, Meg Shaverdian, Nghi P Nguyen, Jalena R Wouters, Joshua A Stern, Ronald H L Li
BACKGROUND: Glanzmann's thrombasthenia (GT) is a congenital platelet disorder affecting approximately 1:1 000 000 people globally and characterized by impaired platelet aggregation and clot retraction. Autosomal recessive, loss-of-function, variants in ITGA2B or ITGB3 of the αIIbβ3 receptor cause the disease in humans. A cat affected by Glanzmann's and macrothrombocytopenia was presented to the UC Davis VMTH. HYPOTHESIS/OBJECTIVES: Severe thrombopathia in this cat has an underlying genetic etiology...
March 1, 2024: Journal of Veterinary Internal Medicine
https://read.qxmd.com/read/38419241/fibrin-glue-in-managing-intractable-gingival-bleeding-in-patients-with-inherited-bleeding-disorders-a-quasi-experimental-pilot-study
#5
JOURNAL ARTICLE
Shabneez Hussain, Syed Aijaz Ali Zaidi, Sobiya Sawani, Bushra Moiz
This study presents the clinical outcomes of using inhouse prepared fibrin glue for controlling gingival bleeding in patients with inherited bleeding disorders (IBD). The objective of the study was to assess the reduction in transfusion days and improvement in compliance for dental evaluation over a one-year period in a low-to-middle-income country. The quasiexperimental pilot study included 40 IBD patients with gingival bleeding. These were divided into two groups: Group A received fibrin glue (n=20), while Group B did not (n=20)...
February 2024: JPMA. the Journal of the Pakistan Medical Association
https://read.qxmd.com/read/38370496/patient-with-a-history-of-glanzmann-thrombasthenia-presented-with-chronic-subdural-hematoma-a-case-report-study
#6
Mohammad Hasanpour, Hajar Mehdizadeh
Glanzmann thrombasthenia (GT) is a rare platelet disorder characterized by qualitative/quantitative deficiencies of the platelets' fibrinogen receptor, glycoprotein (GP) IIb/IIIa complex, resulting in impaired platelet aggregation and increased bleeding time. Most cases are hereditary with an autosomal recessive pattern of inheritance, but acquired GT also occurs. We report the surgical management of symptomatic chronic subdural hematoma (CSDH), a rare condition in young individuals, in a 37-year-old man who had GT and a history of mild head trauma approximately one month before admission...
February 2024: Oxford Medical Case Reports
https://read.qxmd.com/read/38358894/bleeding-disorders-in-saudi-arabia-causes-and-prevalence-a-review
#7
JOURNAL ARTICLE
Tareg M Belali
As bleeding disorders are a worldwide health concern, Saudi Arabia is experiencing a notable prevalence of such disorders. Studying the frequency and cause of hemostatic disorders is the key to successful clinical interventions and instigating effective public policies that limit the spread of such disorders. The current review aims to highlight the major findings of the body of literature that has investigated the causes, prevalence, and major challenges associated with bleeding disorders in the country. The current review summarizes the major findings of different studies that have been conducted in Saudi Arabia regarding different bleeding disorders...
February 15, 2024: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://read.qxmd.com/read/38294750/clinical-characteristics-and-molecular-genetic-analysis-of-a-pedigree-with-glanzmann-s-thrombasthenia
#8
JOURNAL ARTICLE
Qiao Zhu, Keqin Jin, Congcong Fu, Wenwen Feng, Hejin Liu, Zihui Chen, Huiqin Wang, Yuan Gao
OBJECTIVE: The objective of this study was to investigate the clinical phenotype and genetic etiology of Glanzmann's thrombasthenia in a consanguineous pedigree. METHODS: Clinical data and ancillary test results were collected from pedigrees with Glanzmann's thrombasthenia. High-throughput sequencing was used to detect variants in the proband. Candidate variants were verified by Sanger sequencing. RESULTS: Two patients in the pedigree were homozygous for the c...
January 1, 2024: Alternative Therapies in Health and Medicine
https://read.qxmd.com/read/38292347/association-of-laboratory-test-results-with-the-bleeding-history-in-patients-with-inherited-platelet-function-disorders-the-bleeding-assesment-tool-laboratory-tests-substudy-communication-from-the-platelet-physiology-isth-ssc
#9
JOURNAL ARTICLE
Paolo Gresele, Emanuela Falcinelli, Loredana Bury, Marie-Christine Alessi, Giuseppe Guglielmini, Céline Falaise, Gianmarco Podda, Mathieu Fiore, Francesco Mazziotta, Teresa Sevivas, Nuria Bermejo, Erica De Candia, Meera Chitlur, Michele P Lambert, Luca Barcella, Ana C Glembotsky, Marie Lordkipanidzé
BACKGROUND: In hemophilia and von Willebrand disease, the degree of alteration of laboratory assays correlates with bleeding manifestations. Few studies have assessed the predictive value for bleeding of laboratory assays in patients with inherited platelet function disorders (IPFDs). OBJECTIVES: To assess whether there is an association between platelet function assay results and bleeding history, as evaluated by the International Society on Thrombosis and Haemostasis (ISTH) bleeding assessment tool (BAT)...
January 2024: Research and Practice in Thrombosis and Haemostasis
https://read.qxmd.com/read/38269242/lad-iii-a-mild-phenotype-resulting-from-a-novel-variant-of-fermt3-gene-a-case-report
#10
Badriah G Alasmari, Mohammed Alomari, Wejdan N Alotaibi, Ashwaq Hommadi, Abdelhakam A Elmugadam, Khalid Abdalla, Saeed M Al-Tala
Leukocyte adhesion deficiency-III (LAD-III) is a rare recessive autosomal disorder characterized by bleeding syndrome of Glanzmann-type and life-threatening infections. The main etiology of this condition is variations in the FERMT3 gene, which encodes kindlin-3, an integrin-binding protein. This protein is responsible for the activation of fibrinogen receptors and integrin-mediated hematopoietic cell adhesion. So far, only limited cases of LAD-III have been reported. This case report discusses a two-year-old male infant from the Asir region, Saudi Arabia, who was referred to the pediatric hematology service due to recurrent ecchymosis and epistaxis...
December 2023: Curēus
https://read.qxmd.com/read/38268518/-in%C3%A2-vitro-characterization-of-rare-anti-%C3%AE-iib-%C3%AE-3-isoantibodies-produced-by-patients-with-glanzmann-thrombasthenia-that-severely-block-fibrinogen-binding-and-generate-procoagulant-platelets-via-complement-activation
#11
JOURNAL ARTICLE
Christine S M Lee, Yoann Huguenin, Xavier Pillois, Mikeldi Moulieras, Ella Marcy, Shane Whittaker, Vivien M Y Chen, Mathieu Fiore
BACKGROUND: Glanzmann thrombasthenia (GT) is a rare bleeding disorder caused by inherited defects of the platelet αIIb β3 integrin. Platelet transfusions can be followed by an immune response that can block integrin function by interfering with fibrinogen binding. OBJECTIVES: In this study, we aimed to determine the prevalence of such isoantibodies and better characterize their pathogenic properties. METHODS: Twelve patients with GT were evaluated for anti-αIIb β3 isoantibodies...
January 2024: Research and Practice in Thrombosis and Haemostasis
https://read.qxmd.com/read/38259113/functional-and-radiologic-outcomes-of-degenerative-versus-traumatic-full-thickness-rotator-cuff-tears-involving-the-supraspinatus-tendon
#12
JOURNAL ARTICLE
Cornelia Baum, Laurent Audigé, Thomas Stojanov, Sebastian A Müller, Christian Candrian, Andreas M Müller, Claudio Rosso, Lena Fankhauser, Gernot Willscheid, Philipp Moroder, Doruk Akgün, Victor Danzinger, Henry Gebauer, Jan-Philipp Imiolczyk, Katrin Karpinski, Lucca Lacheta, Marvin Minkus, Alp Paksoy, Eduardo Samaniego, Kathi Thiele, Isabella Weiss, Thomas Suter, Julia Müller-Lebschi, Sebastian Mueller, Markus Saner, Claudia Haag-Schumacher, Giorgio Tamborrini-Schütz, Mai Lan Dao Trong, Carlos Buitrago-Tellez, Julian Hasler, Ulf Riede, Sandra Weber, Beat Moor, Matthias Biner, Sarah Fournier, Nicolas Gallusser, Deborah Marietan, Sebastien Pawlak, Christoph Spormann, Britta Hansen, Nadja Mamisch, Holger Durchholz, Jakob Bräm, Gregory Cunningham, Abed Kourhani, Sarah Ossipow, Patricia Simao, Alexandre Lädermann, Rainer Egli, Stephanie Erdbrink, Remy Flückiger, Paolo Lombardo, Tawan Pinworasarn, Philipp Scacchi, Johannes Weihs, Matthias Zumstein, Matthias Flury, Ralph Berther, Christine Ehrmann, Larissa Hübscher, David Schwappach, Karim Eid, Susanne Bensler, Yannick Fritz, Nisha Grünberger, Philipp Kriechling, Daniel Langthaler, Richard Niehaus, Raffaela Nobs, Emanuel Benninger, Quintin de Groot, Aleksis Doert, Sebastian Ebert, Philemon Grimm, Fabian Mottier, Markus Pisan, Jan Schätz, Ariane Schwank, Julian Wiedenbach, Markus Scheibel, Laurent Audigé, Frederik Bellmann, Daniela Brune, Marije de Jong, Stefan Diermayr, David Endell, Marco Etter, Florian Freislederer, Nikitas Gkikopoulos, Michael Glanzmann, Cécile Grobet, Christian Jung, Fabrizio Moro, Philipp Moroder, Ralph Ringer, Jan Schätz, Hans-Kaspar Schwyzer, Béatrice Weber, Martina Wehrli, Barbara Wirth, Manuela Nötzli, Anne Franz, Jörg Oswald, Birgit Steiger, Yacine Ameziane, Christopher Child, Giovanni Spagna, Christian Candrian, Filippo Del Grande, Pietro Feltri, Giuseppe Filardo, Francesco Marbach, Florian Schönweger, Bernhard Jost, Michael Badulescu, Stephanie Lüscher, Fabian Napieralski, Lena Öhrström, Martin Olach, Jan Rechsteiner, Jörg Scheler, Christian Spross, Vilijam Zdravkovic, Matthias A Zumstein, Adrian Chlasta, Kate Gerber, Annabel Hayoz, Julia Müller-Lebschi, Frederick Schuster, Karl Wieser, Paul Borbas, Samy Bouaicha, Roland Camenzind, Sabrina Catanzaro, Christian Gerber, Florian Grubhofer, Anita Hasler, Bettina Hochreiter, Roy Marcus, Farah Selman, Reto Sutter, Sabine Wyss, Christian Appenzeller-Herzog, Soheila Aghlmandi, Ilona Ahlborn, Cornelia Baum, Franziska Eckers, Kushtrim Grezda, Simone Hatz, Sabina Hunziker, Thomas Stojanov, Mohy Taha, Giorgio Tamborrini-Schütz, Andreas Marc Mueller
BACKGROUND: Arthroscopic rotator cuff repair (ARCR) is among the most commonly performed orthopaedic procedures. Several factors-including age, sex, and tear severity-have been identified as predictors for outcome after repair. The influence of the tear etiology on functional and structural outcome remains controversial. PURPOSE: To investigate the influence of tear etiology (degenerative vs traumatic) on functional and structural outcomes in patients with supraspinatus tendon tears...
January 23, 2024: American Journal of Sports Medicine
https://read.qxmd.com/read/38255176/integrin-dependent-transient-density-increase-in-detergent-resistant-membrane-rafts-in-platelets-activated-by-thrombin
#13
JOURNAL ARTICLE
Keisuke Komatsuya, Masaki Ishikawa, Norihito Kikuchi, Tetsuya Hirabayashi, Ryo Taguchi, Naomasa Yamamoto, Morio Arai, Kohji Kasahara
Platelet lipid rafts are critical membrane domains for adhesion, aggregation, and clot retraction. Lipid rafts are isolated as a detergent-resistant membrane fraction via sucrose density gradient centrifugation. The platelet detergent-resistant membrane shifted to a higher density on the sucrose density gradient upon thrombin stimulation. The shift peaked at 1 min and returned to the control level at 60 min. During this time, platelets underwent clot retraction and spreading on a fibronectin-coated glass strip...
December 27, 2023: Biomedicines
https://read.qxmd.com/read/38188552/when-glanzmann-thrombasthenia-encounters-antithrombin-deficiency-how-do-we-balance-the-risk-and-benefit-of-antithrombotic-therapy
#14
JOURNAL ARTICLE
Yu Wang, Zhihao Liu, Haoyu Weng, Jianping Li
No abstract text is available yet for this article.
2024: World Journal of Emergency Medicine
https://read.qxmd.com/read/38179703/double-jeopardy-glomangiopericytoma-and-glanzmann-thrombasthenia-resulting-in-recurrent-epistaxis-a-case-report
#15
JOURNAL ARTICLE
Emna Hammami, Léa Fath, Christian Debry, Dominique Desprez
Glanzmann thrombasthenia is a rare bleeding disorder induced by inherited defects of the platelet membrane αIIbβ3 glycoprotein. Glomangiopericytoma, on the other hand, is a very rare sinonasal tumor demonstrating a perivascular myoid phenotype. We herein report the first described case in the literature of Glanzmann thrombasthenia and glomangiopericytoma. The patient is a 40-year-old man diagnosed with type 1 Glanzmann thrombasthenia who presented with repetitive and profuse posterior epistaxis initially managed with platelet transfusions and recombinant activated factor VII (rFVIIa)...
December 21, 2023: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://read.qxmd.com/read/38047219/single-institution-prospective-evaluation-of-moderately-hypofractionated-whole-breast-radiation-therapy-with-simultaneous-integrated-boost-with-or-without-lymphatic-drainage-irradiation-after-breast-conserving-surgery
#16
JOURNAL ARTICLE
Olga Unterkirhere, Anna Stenger-Weisser, Alexander Kaever, Laura Hoeng, David Jeller, Philippe Logaritsch, Christoph Glanzmann, Gabriela Studer
PURPOSE: We report treatment outcomes for patients who received adjuvant moderate hypofractionated whole-breast radiation therapy with simultaneous integrated boost (SIB-mhWBRT) after breast-conserving surgery. METHODS AND MATERIALS: SIB-mhWBRT for patients with breast cancer was introduced in our department in July 2017. This prospective evaluation includes 424 consecutive patients treated with SIB-mhWBRT for stage I-III invasive breast cancer (n = 391) and/or ductal carcinoma in situ (n = 33) until December 2021...
2023: Advances in Radiation Oncology
https://read.qxmd.com/read/38007062/targeted-long-read-sequencing-identifies-and-characterizes-structural-variants-in-cases-of-inherited-platelet-disorders
#17
JOURNAL ARTICLE
Ana Zamora-Cánovas, Belén de la Morena-Barrio, Ana Marín-Quilez, Cristina Sierra-Aisa, Christoph Male, Nuria Fernández-Mosteirin, María Trapero-Marugán, José Padilla, Pedro Garrido-Rodriguez, Ana Sánchez-Fuentes, Agustín Rodríguez-Alen, Pedro Luis Gómez-González, Nuria Revilla, María Eugenia de la Morena-Barrio, José María Bastida, Javier Corral, José Rivera, María L Lozano
BACKGROUND: Genetic diagnosis of inherited platelet disorders (IPD) is mainly performed by high-throughput sequencing (HTS). These short-read-based sequencing methods sometimes fail to characterize the genetics of the disease. AIMS: To evaluate nanopore long-read DNA sequencing for characterization of structural variants (SVs) in IPD patients. METHODS: Four patients with a clinical and laboratory diagnosis of Glanzmann thrombasthenia(GT) (P1 and P2) and Hermansky-Pudlak syndrome (HPS) (P3 and P4), in whom HTS missed the underlying molecular cause were included...
November 23, 2023: Journal of Thrombosis and Haemostasis: JTH
https://read.qxmd.com/read/37952246/multidisciplinary-management-of-a-pregnancy-complicated-by-glanzmann-thrombasthenia-a-case-report
#18
Matthew M Hernandez, Ayisha Buckley, Ariana Mills, Rachel Meislin, Caroline Cromwell, Angela Bianco, Noel Strong, Suzanne Arinsburg
BACKGROUND: Glanzmann thrombasthenia (GT) is a rare, autosomal recessive disorder of platelet glycoprotein IIb-IIIa receptors. Pregnant patients with GT are at increased risk of maternal and fetal bleeding. There is a paucity of literature on the peripartum management of patients. CASE DESCRIPTION: We present the antepartum through the postpartum course of a patient with GT who was managed by a multidisciplinary approach that included communication across maternal-fetal medicine, hematology, transfusion medicine, and anesthesiology services...
December 2023: Transfusion
https://read.qxmd.com/read/37942747/glanzmann-s-thrombasthenia-associated-with-gastrointestinal-angiodysplasias-successfully-treated-with-bevacizumab
#19
JOURNAL ARTICLE
Agustina Saladino, María L Gonzalez, Fernando A Chuliber, Marcelo M Serra
Glanzmann's Thrombasthenia (GT) is a rare hemorrhagic condition caused by a platelet surface receptor disorder of the glycoprotein (GP) IIb/IIIa. Symptoms of GT are various forms of hemorrhages, such as purpura, epistaxis and menorrhagia. Gastrointestinal bleeding (GIB) is a rare expression of the condition and may occur due to traumas in the GI tract or as a consequence of gastrointestinal angiodysplasia (GIADs). In this case report, we present a middle-aged woman with recurrent GIB consequent to GIADs with persistent melena and iron deficiency anemia...
December 1, 2023: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://read.qxmd.com/read/37941894/glanzmann-thrombasthenia-associated-with-siderotic-synovitis-and-arthropathy-a-case-report
#20
Mouhammad J Alawad, Mohammad Abu-Tineh, Awni Alshurafa, Alaa Al-Taie, Anil Yousaf, Mohamed A Yassin
Glanzmann thrombasthenia is a bleeding disorder with a low incidence. It typically manifests as superficial bleeding episodes, which tend to be mild. Deep organ involvement is not uncommon but remains rare due to the rarity of the disease itself and the unusual association between platelet disorders and deep organ implications. A 17-year-old boy with Glanzmann thrombasthenia since infancy developed ankle pain after a minor trauma. His initial workup was negative, but he continued to experience ankle pain. A magnetic resonance imaging (MRI) done after four weeks suggested siderotic synovitis...
2023: Journal of Blood Medicine
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