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Psychometric Validation of the Hemophilia Functional Ability Scoring Tool (Hemo-FAST).
Thromb Haemost
January 2025
Centre de Ressources et Compétences des Maladies Hémorragiques Constitutionnelles, CHU Clermont-Ferrand, Estaing Hospital, Clermont-Ferrand, France.
Background: The Hemophilia Functional Ability Scoring Tool (Hemo-FAST), consisting of a patient-reported outcome (PRO) part and a clinician-reported outcome (ClinRO) part, was developed as a rapid and effective tool to assess functional mobility in clinical practice. This study (NCT04731701) aimed to validate the psychometric properties of Hemo-FAST for assessment of joint health in people with haemophilia (PwH).
Methods: PwH A or B aged ≥18 years completed questionnaires including the PRO part of Hemo-FAST and the short-form 36 health survey (SF-36) during one study visit.
An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation.
Front Genet
January 2025
Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Chongqing, China.
Objectives: Hemophilia A (HA) is an X-linked recessive inherited bleeding disorder that typically affects men. Women are usually asymptomatic carriers, and rarely presenting with severe or moderately severe phenotype. This study aims to describe a case of a 17-year-old girl with moderate HA, investigating the mechanisms of her condition and the genetic basis within her family.
View Article and Find Full Text PDFA Case Report of Cryoneurolysis With Factor VIII Administration for Cerebral Palsy-related Spasticity in a Patient With Hemophilia A.
Adv Rehabil Sci Pract
January 2025
Vancouver Island Health Authority, Victoria, BC, Canada.
Spasticity affects up to 80% of individuals with cerebral palsy and can lead to pain and difficulties with performing activities of daily living. If left untreated, spasticity can progress to contracture and neuro-orthopedic deformities. Cryoneurolysis is an emerging and mini-invasive ultrasound-guided technique that causes secondary axonotmesis of peripheral nerves through the formation of an ice ball and may result in months to years of improved range of motion and reduced pain in patients with spasticity.
View Article and Find Full Text PDFTotal Hip Arthroplasty for Avascular Necrosis in a Patient With Hemophilia B.
Arthroplast Today
December 2024
Rush University Medical Center, Chicago, IL, USA.
Avascular necrosis (AVN) of the femoral head accounts for up to 10% of all total hip arthroplasties performed annually. Typically associated with intravascular coagulation, AVN is extremely rare in patients with bleeding disorders such as hemophilia B. In this report, we describe the therapeutic management of a 46-year-old male with hemophilia B, presenting with chronic left hip pain and AVN of the femoral head.
View Article and Find Full Text PDFHemophilia A is a clotting disorder due to factor VIII deficiency, leading to prolonged bleeding. Acquired hemophilia A results from the immune system attacking factor VIII, typically occurring later in life. Factor V Leiden is a genetic mutation causing abnormal blood clot formation, primarily in veins.
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