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Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation.
Cureus
December 2024
Obstetrics and Gynecology, Latifa Hospital, Dubai, ARE.
Glanzmann thrombasthenia (GT) is an autosomal recessive platelet functional bleeding disorder caused by mutations in the ITGA2B or ITGB3 genes, often presenting as mucocutaneous bleeding. GT typically presents in infancy, but this study reports a rare case of neonatal presentation in a female infant born to consanguineous parents. The mother, a 27-year-old woman with a family history of GT, presented at 36 weeks gestation for an elective cesarean due to a breech presentation.
View Article and Find Full Text PDFChronic immune thrombocytopenic purpura in children: Clinical presentations and management.
Tunis Med
November 2024
Department of Pediatrics, Hedi Chaker Hospital, Sfax, Tunisia.
Article Synopsis
- This study focuses on chronic immune thrombocytopenic purpura (ITP) in children, reporting on epidemiological data and clinical management from a pediatric department in southern Tunisia over 13 years.
- Out of 72 newly diagnosed ITP cases, 11 evolved into chronic ITP, with a mix of symptoms and complications, including two patients who experienced severe cases requiring advanced treatment.
- The findings highlight the difficulties pediatricians face in managing chronic ITP, emphasizing the importance of existing guidelines to assist in treatment strategies for severe cases.
Role of the Hemostasis and Thrombosis Unit in the Management of Patients with Acquired Hemophilia A.
Turk J Haematol
December 2024
University of Cagliari - Medical Science and Public Health, Viale Roberto Sequi Monserrato, Cagliari, Italy
Objective: Acquired hemophilia A (AHA) is a rare autoimmune disease characterized by the presence of autoantibodies against coagulation factor VIII, leading to spontaneous hemorrhage in patients without a prior family or personal history of bleeding. This study describes the demographics, diagnosis, underlying disorders, bleeding characteristics, treatment, and outcomes of 41 AHA patients together with specific case reports.
Materials And Methods: Diagnosis and treatment of these patients occurred between 2005 and 2023.
Pregnancy loss in individuals with von Willebrand disease and unspecified mucocutaneous bleeding disorders: a multicenter cohort study.
J Thromb Haemost
October 2024
Division of Hematology and Hematological Malignancies, Department of Medicine, University of Calgary, Alberta, Canada; Department of Oncology, Arnie Charbonneau Cancer Institute, University of Calgary, Calgary, Alberta, Canada.
Background: While bleeding around pregnancy is well described in von Willebrand disease (VWD), the risk of pregnancy loss is less certain.
Objectives: We aimed to describe the frequency of pregnancy loss in females with VWD compared with those with a similar mucocutaneous bleeding phenotype and no VWD or compared with nonbleeding disorder controls.
Methods: Female patients were consecutively approached in 8 specialty bleeding disorder clinics between 2014 and 2023.
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