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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 PDFEvaluation of a Machine Learning-Guided Strategy for Elevated Lipoprotein(a) Screening in Health Systems.
Circ Genom Precis Med
January 2025
Section of Cardiovascular Medicine, Department of Internal Medicine, Yale School of Medicine, New Haven, CT (A.A., L.S.D., E.K.O., R.K.).
Background: While universal screening for Lp(a; lipoprotein[a]) is increasingly recommended, <0.5% of patients undergo Lp(a) testing. Here, we assessed the feasibility of deploying Algorithmic Risk Inspection for Screening Elevated Lp(a; ARISE), a validated machine learning tool, to health system electronic health records to increase the yield of Lp(a) testing.
View Article and Find Full Text PDFWhile maternal mortality decreased during the Millennium Development Goals era, it remains unacceptably high, with stagnation in reductions possible due to shocks such as COVID-19. Most women in low- and middle-income countries already receive antenatal care and over half give birth in health facilities. In cities, use of health facilities for childbirth is near universal (>90%).
View Article and Find Full Text PDFHigh-grade liver injury: outcomes with a trauma surgery-liver surgery collaborative approach.
Trauma Surg Acute Care Open
January 2025
Surgery, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
Background: Operative mortality for high-grade liver injury (HGLI) remains 42% to 66%, with near-universal mortality after retrohepatic caval injury. The objective of this study was to evaluate mortality and complications of operative and nonoperative management (OM and NOM) of HGLI at our institution, characterized by a trauma surgery-liver surgery collaborative approach to trauma care.
Methods: This was an observational cohort study of adult patients (age ≥16) with HGLI (The American Association for Surgery of Trauma (AAST) grades IV and V) admitted to an urban level I trauma center from January 2010 to November 2021.
Frailty index, frailty phenotype and 6-year mortality trends in the FRASNET cohort.
Front Med (Lausanne)
January 2025
Internal Medicine Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Background: Frailty, a geriatric syndrome associated with adverse outcomes, lacks a universal definition. No consensus exists on the most effective frailty scale for predicting mortality.
Methods: This prospective observational study followed community-dwelling volunteers for 6 years.
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