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| http://dx.doi.org/10.11604/pamj.2015.21.268.6502 | DOI Listing |
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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 PDFHemorrhagic cholecystitis afflicted with glanzmann thrombasthenia patient.
J Family Med Prim Care
November 2024
Department of Basic Science College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.
Article Synopsis
- Hemorrhagic cholecystitis is a rare but serious condition that can occur if the gallbladder bursts, necessitating urgent medical intervention.
- A 27-year-old man with Glanzmann's thrombasthenia visited the emergency department multiple times, initially presenting with ear and later chest pain, before being misdiagnosed and sent home.
- Upon returning with abdominal symptoms, an ultrasound confirmed cholecystitis, leading to an emergency surgery that uncovered the hemorrhagic cholecystitis diagnosis.
Background: Glanzmann thrombasthenia (GT) is a rare disease with an autosomal recessive inheritance pattern. This disorder is not so uncommonly encountered in routine clinical practice and laboratory settings in Pakistan let alone in the rest of the world. To describe the bleeding phenotype of GT and treatment outcomes in over one hundred patients in north Pakistan.
View Article and Find Full Text PDFOral invasive procedures in Glanzmann thrombasthenia: a retrospective observational study.
Res Pract Thromb Haemost
November 2024
University of Strasbourg, Faculty of Dental Surgery, Strasbourg, France.
Background: Glanzmann thrombasthenia (GT) is a very rare autosomal inherited bleeding disease affecting megakaryocyte lineage with impacts on oral health such as gingival bleeding, which requires specific management protocols. Very few clinical cases have been published in the dental and hematologic literature.
Objectives: This study focuses on a series of 21 patients affected specifically by GT and their hemorrhagic prophylaxis management with the use of recombinant activated factor VII (rFVIIa) for dental extractions and full-mouth debridement.
Gastrointestinal Bleeding/Angiodysplasia in Patients With Glanzmann Thrombasthenia.
J Med Cases
December 2024
Madinah Hereditary Blood Disorders Centre, Department of Hematology and Oncology, King Salman Bin Abdulaziz Medical City, Madinah, Saudi Arabia.
Article Synopsis
- * A rare complication of GT is gastrointestinal angiodysplasia (GIAD), which involves abnormal blood vessel formation in the digestive system and has been documented in eight cases.
- * Treatment options for GIAD include surgical methods, electrocoagulation, and medications, but it has a high chance of recurring, as demonstrated in reported cases of patients with both GT and gastrointestinal bleeding.
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