Results 31 to 40 of about 1,325 (125)

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

Septal Release: A Targeted Surgical Strategy for Recurrent Epistaxis

Eye &ENT Research, Volume 3, Issue 3, Page 163-167, September 2026.
ABSTRACT Background Recurrent epistaxis is a common pediatric condition that is typically managed with conservative therapies, but a subset of patients require surgical intervention after treatment failure. We seek to describe the efficacy of septal release for refractory pediatric epistaxis patients. Objective To compare outcomes of septal release for
Alexandra Welschmeyer, Daniel Karasik, Christopher L. Crafton, Eve Tranchito, Sarah Ridge, Cyrus C. Rabbani, Jay Shah   +6 more
wiley   +1 more source

Glanzmann′s thrombasthenia associated with HBsAg-positive child: A case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2007
Glanzmann′s thrombasthenia is a rare hemorrhagic disorder characterized by prolonged bleeding time and diminished clot retraction. The disease is marked by frequent mucocutaneous hemorrhage which is mainly due to qualitative defects of platelets ...
Poornima G, Shivaprasad S, Ashok L
doaj  

Optimizing Emergency Department Care for People With Bleeding Disorders: A Scoping Review of Barriers and Interventions for Improvement

Haemophilia, Volume 32, Issue 5, Page 1135-1159, September/October 2026.
ABSTRACT Background Emergency department (ED) care is critical for managing acute bleeding events in people with bleeding disorders. Despite international guidelines recommending haemostatic treatment within 30–60 min, delays and deviations from best practices are common and associated with poorer outcomes.
Ling‐Yi Guo, Diane L. Lorenzetti, Natalia Rydz, Dawn Goodyear, Julia Hews‐Girard, Garrick Mok, Roy Khalife, Kelsey Uminski   +7 more
wiley   +1 more source

Pyelolithotomy in a patient with Glanzmann thrombasthenia and antiglycoprotein IIb/IIIa antibodies: the shortest possible duration of treatment with recombinant activated factor VII and platelet transfusions

The Turkish Journal of Pediatrics, 2003
Transfusion of platelet concentrates remains the first-line therapy for Glanzmann thrombasthenia in case of bleeding or preparation for surgery. However, development of antibodies to platelet glycoprotein (Gp) IIb/IIIa complex or human leukocyte ...
Omer Devecioğlu, Ayşegül Unüvar, Sema Anak, Ilmay Bilge, Haluk Ander, Orhan Ziylan   +5 more
doaj  

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

Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in India

Pediatric Hematology Oncology Journal, 2023
Leukocyte adhesion deficiency (LAD) Type-III is caused by homozygous mutations in FERMT3 causing Kindlin-3 deficiency. Here we describe three children with molecularly proven LAD-III presenting with neonatal onset mucocutaneous bleeding, infections and ...
Akshaya Chougule, Prasad Taur, Vaishnavi V. Iyengar, Vijaya Gowri, Bipin P. Kulkarni, Manisha R. Madkaikar, Minnie Bodhanwala, Mukesh M. Desai   +7 more
doaj   +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

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

Repeated sudden sensorineural hearing loss with intralabyrinthine hemorrhage in a patient with Glanzmann thrombasthenia: case report

Frontiers in Audiology and Otology
Glanzmann thrombasthenia is a rare congenital bleeding disorder. Recent advances in magnetic resonance imaging (MRI) have made it possible to detect micro-lesions in the inner ear, such as intralabyrinthine hemorrhage, a rare disorder that causes sudden ...
Nobuyoshi Tsuzuki, Nobuyoshi Tsuzuki, Nobuyoshi Tsuzuki, Koichiro Wasano, Hiroyuki Ozawa   +4 more
doaj   +1 more source