Results 51 to 60 of about 2,361,484 (180)

Glanzmann′s thrombasthenia: A case report and review

Journal of Indian Academy of Oral Medicine and Radiology, 2011
Glanzmann′s thrombasthenia (GT) is a rare autosomal recessive disorder and characterized by a lack of platelet aggregation due to the absence of platelet glycoprotein (GP) Ilb and Illa. Usually, the disease leads to mild hemorrhage but sometimes bleeding
Ajit D Dinkar, Sujata K Satoskar, Amit Gothwal   +2 more
doaj   +1 more source

Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience

International Journal of Laboratory Hematology, Volume 48, Issue 4, Page 856-865, August 2026.
ABSTRACT Background Inherited platelet disorders (IPDs) are rare hematologic conditions encompassing a heterogeneous spectrum of quantitative and qualitative platelet defects, frequently associated with variable clinical phenotypes and comorbidities. Accurate diagnosis necessitates comprehensive genetic characterization, detailed clinical and bleeding ...
Silvia Ferrari, Daniela Regazzo, Antonella Bertomoro, Anna Cerbo, Alessandro Galbiati, Elisabetta Cosi, Paolo Simioni   +6 more
wiley   +1 more source

Investigator‐Led Research to Improve the Diagnostic Assessment of Platelet Function Disorders: Reflections on the Challenges and Rewards

International Journal of Laboratory Hematology, Volume 48, Issue 4, Page 721-731, August 2026.
ABSTRACT Introduction Investigator‐led research and quality improvement initiatives have led to important improvements in the diagnostic assessment of platelet function disorders (PFD). Methods Personal reflections were used to summarize our contributions to knowledge on PFD diagnostic assessment, pathogenesis, and bleeding risks.
Catherine P. M. Hayward
wiley   +1 more source

Epistaxis as a manifestation of Bernard-Soulier Syndrome

Jornal de Pediatria, 1997
To call pediatrician's attention to an infrequent cause of severe repetitive epistaxis.The authors report a case of Bernard-Soulier Syndrome and also make a review of the literature available in MEDLINE from 1970.The authors describe a 3 year-old boy with severe repetitive epistaxis with hemodinamic repercussions, who required many blood and ...
J F, Lubianca Neto, L B, de Brito, E F, dos Santos   +2 more
openaire   +2 more sources

Preoperative blood transfusion for gynecological operation of a patient with Bernard-Soulier syndrome: Case report [PDF]

Sanamed, 2011
Bernard-Soulier syndrome belongs to congenital thrombocytopathic platelet disorders. There is a change of the structure of the glycoprotein in platelet membrane, causing the impair of platelet adherence on the blood vessel wall.
Pešić-Stevanović Ivana, Zamurović Milena, Ćurković Aleksandar, Kostovska-Mićević Lenka, Stanojević Dušan, Elezović Ivo   +5 more
doaj  

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

Orphanet Journal of Rare Diseases, 2017
Background Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann’s thrombasthenia
Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi   +9 more
doaj   +1 more source

Molecular genetics and transfusion management in a child with Bernard Soulier syndrome

, 2006
We present a case of Bernard Soulier syndrome in a 9-year-old boy caused by a novel genetic mutation. This child was shown to be homozygous for a single nucleotide deletion (c.1077delG) in the GP1BA gene not previously reported.
Orr, Nick J; id_orcid, Alexander, H Denis, Bowers, Margaret J, Dempsey, Si   +3 more
core   +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

Clinical Phenotype of Bernard Soulier Syndrome Case Resulting from Compound Heterozygous Inheritance [PDF]

, 2022
Background: Bernard Soulier Syndrome (BSS) is a rare, autosomal recessive inheritance disorder of platelet function. Estimated to affect one per one million, there are currently only 200 cases reported worldwide presenting more commonly in families with ...
Cantor, Morgan, MD, Popescu, Marcela, MD, Dorn, Margaret Turner, MD, Emberesh, Myesa H., MD   +3 more
core   +1 more source

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