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Introduction: Hereditary bleeding disorders stem from the absence or insufficient levels of particular clotting proteins, essential for facilitating coagulation in the clotting cascade. Among the most prevalent are hemophilia A (deficiency of Factor VIII), hemophilia B (deficiency of Factor IX), and von Willebrand disease. Management of pharmacoresistant epilepsy is more difficult in a patient with bleeding disorder due to increased risk of bleeding during surgery.
View Article and Find Full Text PDFLeveraging domain knowledge for synthetic ultrasound image generation: a novel approach to rare disease AI detection.
Int J Comput Assist Radiol Surg
December 2024
Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
Purpose: This study explores the use of deep generative models to create synthetic ultrasound images for the detection of hemarthrosis in hemophilia patients. Addressing the challenge of sparse datasets in rare disease diagnostics, the study aims to enhance AI model robustness and accuracy through the integration of domain knowledge into the synthetic image generation process.
Methods: The study employed two ultrasound datasets: a base dataset (Db) of knee recess distension images from non-hemophiliac patients and a target dataset (Dt) of hemarthrosis images from hemophiliac patients.
Mortality in Haemophilia Patients in India: A National Cohort Study.
Haemophilia
December 2024
Advanced Center for Oncology, Hematology and Rare Disorders (ACOHRD), K.J. Somaiya Super Speciality Hospital & Research Center, Somaiya Ayurvihar, Sion East, Mumbai, Maharashtra, India.
Introduction: Mortality and morbidity in persons with haemophilia (PWH) have decreased due to improved diagnosis and treatment along with comprehensive population outreach efforts, but the impact is not uniform in different countries.
Aim: The study aims to assess all-cause and intracranial haemorrhage (ICH)-specific mortality of PWH in India.
Methods: This is a retrospective, observational, multi-centric cohort study of 1020 haemophilia patients from three centres in India.
Real-world use of emicizumab in Chinese children with hemophilia A: Retrospective data from a comprehensive care center.
Pediatr Investig
December 2024
Hematology Department, Hemophilia Comprehensive Care Center, Hematology Center, Beijing Key Laboratory of Pediatric Hematology-Oncology, Key Laboratory of Major Diseases in Children, National Center for Children's Health National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education, Beijing Children's Hospital, Capital Medical University Beijing China.
Importance: Emicizumab (EMI) is efficacious and safe for hemophilia A (HA) prophylaxis. However, its high cost poses a challenge in China.
Objective: To explore the possibility of using reduced-dosage EMI in Chinese HA children.
A phase 1/2 safety and efficacy study of TAK-754 gene therapy: The challenge of achieving durable factor VIII expression in haemophilia A clinical trials.
Haemophilia
December 2024
Investigative Toxicology, Takeda Development Center of the Americas, Cambridge, USA.
Introduction: Haemophilia A is an X-linked bleeding disorder resulting from a deficiency of factor VIII (FVIII). To date, multiple gene therapies have entered clinical trials with the goal of providing durable haemostatic protection from a single dose. TAK 754 (BAX 888) is an investigational AAV8-based gene therapy containing a FVIII transgene.
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