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Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program.
JAMA Pediatr
January 2025
Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
Importance: Detection of congenital cytomegalovirus (cCMV) infection has previously relied on targeted screening programs or clinical recognition; however, these approaches miss most cCMV-infected newborns and fail to identify those infants who are asymptomatic at birth but at risk for late-onset sensorineural hearing loss.
Objective: To determine the feasibility of using routinely collected newborn dried blood spots (DBS) in a population-based cCMV screen to identify infants at risk for hearing loss and describe outcomes of infants screened.
Design, Setting, And Participants: This diagnostic study of a population-based screening program in Ontario, Canada, took place from July 29, 2019, to July 31, 2023.
Nowcasting to Monitor Real-Time Mpox Trends During the 2022 Outbreak in New York City: Evaluation Using Reportable Disease Data Stratified by Race or Ethnicity.
Online J Public Health Inform
January 2025
Bureau of Communicable Disease, New York City Department of Health and Mental Hygiene, Long Island City, NY, United States.
Background: Applying nowcasting methods to partially accrued reportable disease data can help policymakers interpret recent epidemic trends despite data lags and quickly identify and remediate health inequities. During the 2022 mpox outbreak in New York City, we applied Nowcasting by Bayesian Smoothing (NobBS) to estimate recent cases, citywide and stratified by race or ethnicity (Black or African American, Hispanic or Latino, and White). However, in real time, it was unclear if the estimates were accurate.
View Article and Find Full Text PDFEfficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.
Mol Genet Metab Rep
March 2025
Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
Background: The efficacy and safety of avalglucosidase alfa for Pompe disease (PD) have been demonstrated in a global Phase 3 trial (COMET) in patients with late-onset PD (LOPD) and a global Phase 2 trial (Mini-COMET) in patients with infantile-onset PD (IOPD). This case series examines the individual results of three Japanese patients enrolled in these trials.
Methods: Case reports were assembled from data collected in the COMET and Mini-COMET trials.
Late Presentation of Congenital Aqueduct Stenosis in Adulthood with High-Riding Basilar Artery: Case Report.
J Neurol Surg Rep
January 2025
Department of Neurosurgery and Spine Surgery, Qatif Central Hospital, Qatif, Saudi Arabia.
A rare variant of congenital aqueductal stenosis (CAS) is known as adult-onset CAS, characterized by the emergence of symptoms during adulthood. A 35-year-old man presented complaining of acute-onset headache and vomiting. Magnetic resonance imaging of the brain revealed an acute hydrocephalus due to an aqueductal web.
View Article and Find Full Text PDFEffect of gestational age on clinical features in necrotizing enterocolitis-associated intestinal perforation.
Front Pediatr
January 2025
Department of General & Neonatal Surgery, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Chongqing, China.
Purpose: To investigate the clinical features of necrotizing enterocolitis-associated intestinal perforation (NEC-IP) in neonates with different gestational ages (GAs). Furthermore, we also want to identify the risk factors of poor prognosis for these patients.
Methods: The retrospective study of patients with NEC-IP was conducted with basic information, comorbidity, intraoperative findings, related treatment, and prognosis.
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