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Hearing loss occurs prior to thrombocytopenia in both mice and humans with DFNA1.
FASEB J
January 2025
Laboratory of Molecular Pharmacology, Biosignal Research Center, Kobe University, Kobe, Japan.
DFNA1 (deafness, nonsyndromic autosomal dominant 1), initially identified as nonsyndromic sensorineural hearing loss, has been associated with an additional symptom: macrothrombocytopenia. However, the timing of the onset of hearing loss (HL) and thrombocytopenia has not been investigated, leaving it unclear which occurs earlier. Here, we generated a knock-in (KI) DFNA1 mouse model, diaphanous-related formin 1 (DIA1), in which Aequorea coerulescens green fluorescent protein (AcGFP)-tagged human DIA1(p.
View Article and Find Full Text PDFBackground: 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 PDFHereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage-novel compound heterozygous mutations in hTTP.
BMC Med Genomics
November 2024
Department of Hematology, Guangzhou First People's Hospital, Guangzhou, 510080, China.
We report a case of early-onset hereditary thrombotic thrombocytopenic purpura in a 16-year-old girl who suffered from thrombocytopenia and was misdiagnosed with immune thrombocytopenia for years until two failed gestations finally revealed the underlying cause. The novel compound heterozygous mutation c.2865G > A:p.
View Article and Find Full Text PDFGastrointestinal 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.
A ten-year experience with the diagnosis of von Willebrand disease in Mexico based on a cost-effective strategy.
Arch Med Res
November 2024
Unidad de Investigacion Médica en Trombosis, Hemostasia y Aterogénesis, Instituto Mexicano del Seguro Social, Mexico City, Mexico. Electronic address:
Background: Von Willebrand disease (VWD), is the most common inherited bleeding disorder worldwide, but its diagnosis is complicated, expensive, and poorly evaluated in several countries.
Objective: To report our long-term experience with the diagnosis of VWD based on a cost-effective strategy.
Methods: We studied 802 Mexican patients, men and women, children, and adults, with clinical suspicion of VWD.
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