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Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years.
Genet Med
January 2025
Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa. Electronic address:
Purpose: Universal newborn hearing screening (UNHS) programs using audiometric techniques alone are limited in ability to detect non-congenital childhood permanent hearing loss (PHL). In 2019, Ontario launched universal newborn screening (NBS) for PHL risk factors: congenital cytomegalovirus (cCMV) and 22 common variants in GJB2 and SLC26A4. Here we describe our experience with genetic risk factor screening.
View Article and Find Full Text PDFObjective: Scleroderma-associated autoantibodies (SSc-Abs) are specific in participants (pts) with systemic sclerosis and are associated with organ involvement. Our objective was to assess the influence of baseline SSc-Abs on the trajectories of the clinical outcome assessments (COAs) in a phase III randomized controlled trial.
Methods: We used data on both the groups who received placebo (Pbo) and tocilizumab from the focuSSced trial.
Artificial intelligence and machine learning capabilities in the detection of acute scaphoid fracture: a critical review.
J Hand Surg Eur Vol
January 2025
Clinical Scientific Computing, Guy's and St Thomas' NHS Foundation Trust, London, UK.
This paper discusses the current literature surrounding the potential use of artificial intelligence and machine learning models in the diagnosis of acute obvious and occult scaphoid fractures. Current studies have notable methodological flaws and are at high risk of bias, precluding meaningful comparisons with clinician performance (the current reference standard). Specific areas should be addressed in future studies to help advance the meaningful and clinical use of artificial intelligence for radiograph interpretation.
View Article and Find Full Text PDFA global review of national guidelines of post-exposure prophylaxis for the prevention of HIV.
J Int AIDS Soc
January 2025
Melbourne Sexual Health Centre, Alfred Health, Melbourne, Victoria, Australia.
Introduction: The World Health Organization (WHO) recommends the use of antiretroviral drugs as post-exposure prophylaxis (PEP) for preventing HIV acquisition for occupational and non-occupational exposures. To inform the development of global WHO recommendations on PEP, we reviewed national guidelines of PEP for their recommendations.
Methods: Policies addressing PEP from 38 WHO HIV priority countries were obtained by searching governmental and non-governmental websites and consulting country and regional experts; these countries were selected based on HIV burden, new HIV acquisitions and the number of HIV-associated deaths.
Determinants of physical function, as measured using PROMIS PF-10a, in patients with rheumatoid arthritis: results from the international COVID-19 Vaccination in Autoimmune Diseases (COVAD) study.
Rheumatol Adv Pract
December 2024
Rheumatology Department, King's College Hospital, London, UK.
Objectives: Physical function in RA is largely influenced by multiple clinical factors, however, there is a growing body of evidence that psychological state and other comorbidities also play an essential role. Using data obtained in the COVID-19 Vaccination in Autoimmune Diseases study, an international self-reported e-survey, we aimed to explore the predictive ability of sociodemographic and clinical variables on Patient-Reported Outcomes Measurement Information System Physical Function Short Form 10a (PROMIS PF-10a) in RA and to investigate variation in disease activity and functional outcomes based on country-level socio-economic parameters.
Methods: Patient demographics, disease characteristics including current symptom status, functional status and treatment variables, as well as income level of the country of residence, were extracted from survey responses.
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