Results 41 to 50 of about 2,057 (172)

Thrombasthenie de Glanzmann et grossesse: a propos d�un cas et revue de la litterature

The Pan African Medical Journal, 2011
La thrombasthenie de Glanzmann est une anomalie plaquettaire qualitative, a transmission autosomale recessive, due a un deficit en glycoproteine IIb/IIIa (GPIIb/IIIa), avec un defaut d agregation plaquettaire.
Myriam Rachad, Hikmat Chaara, Fatim zahra Fdili, Jayi Sofia, Hakimat Bouguern, Moulay Abdelilah Melhouf   +5 more
doaj   +1 more source

The Swiss Haemophilia Registry–Report From the First 8 Years

Haemophilia, Volume 32, Issue 4, Page 923-932, July/August 2026.
ABSTRACT Introduction Patient registries capture disease related information and provide a valuable source for real‐world data on rare diseases and their management. The Swiss Haemophilia Registry (SHR) was established in 2015 on the basis of a new Swiss federal human research act.
Alessandra Bosch, Lorenzo Alberio, Pierre Fontana, Lukas Graf, Johanna A. Kremer Hovinga, Nicolas von der Weid, Mattia Rizzi, Manuela Albisetti, the Swiss Haemophilia Network   +8 more
wiley   +1 more source

Long-term treatment with thalidomide for severe recurrent hemorrhage from intestinal angiodysplasia in Glanzmann Thrombasthenia

Platelets, 2021
Gastrointestinal angiodysplasia (GIA) is the most common cause of occult gastrointestinal bleeding (GIB) requiring often hospitalization and transfusions, especially in patients with hemorrhagic disorders.
Francesco Paciullo, Tiziana Fierro, Filippo Calcinaro, Gianfranco Zucca Giucca, Paolo Gresele, Loredana Bury   +5 more
doaj   +1 more source

Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome Associated with Macrothrombocytopenia

Journal of Applied Hematology
Congenital thrombocytopenias are a diverse range of diseases. Of them, Glanzmann thrombasthenia is an autosomal recessive platelet aggregation disorder due to defect in the alpha IIb/beta3 integrins, coded by the ITGA2B and ITGB3 genes.
Abdulrhman Ibrahim Alathaibi, Muhammad Matloob Alam, Mohammed Kamal, Mohamed Refai, Faisal Alosaimi, Omar Allehyani, Nojood Althubaity   +6 more
doaj   +1 more source

Gastric hemorrhage due to high pungency food?

JPGN Reports, Volume 7, Issue 2, Page 278-280, May 2026.
Abstract We present a case of a 9‐year‐old patient who presented with hematemesis after consuming crisps with a high pungency (the so‐called ghost peppers). Blood loss resulted in a significant decrease in hemoglobin and for this reason a gastroduodenoscopy was performed.
Rachel J. van der Pol, Anemone van den Berg, Wendy L. van der Woerd   +2 more
wiley   +1 more source

Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia

Clinical Case Reports, 2017
Key Clinical Message 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
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   +15 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

New Data on Glanzmann's Thrombasthenia

Experimental Biology and Medicine, 1971
SummaryLittle platelet acid phosphatase or platelet factor 4 was made available from thrombasthenic platelets by adrenaline or ADP. Conversely, collagen induced marked but subnormal availability of platelet acid phosphatase and normal availability of platelet factor 4.
J P, Caen, S, Cronberg, S, Levy-Toledano, P, Kubisz, J P, Pinkhas   +4 more
openaire   +2 more sources

National Bleeding Disorder Foundation Clinical Practice Recommendations for Laboratory Screening of Iron Deficiency With and Without Anemia in the Inherited Bleeding Disorders Population

Haemophilia, Volume 32, Issue 3, Page 646-657, May/June 2026.
ABSTRACT Introduction The National Bleeding Disorder Foundation (NBDF) Medical and Scientific Advisory Council (MASAC) was formed in 1954 and issues recommendations and advisories pertinent to the bleeding disorders community. MASAC is comprised of > 25 rotating members from different medical disciplines and lived experience experts.
Glaivy Batsuli, Magdalena D. Lewandowska, Ming Y. Lim, Kelly Tickle, Maureen K. Baldwin, Rose Bender, Jennifer Davila, Brendan Hayes, Amanda Jacobson‐Kelly, Peter Kouides, Michele P. Lambert, Shilpa Nataraj, Michelle Sholzberg, Roona Sinha, Hanny Al‐Samkari, Amy L. Dunn   +15 more
wiley   +1 more source