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A Preliminary Study of Hearing Loss in Children With Craniosynostosis.
Cleft Palate Craniofac J
January 2025
Department of Plastic and Reconstructive Surgery, Nationwide Children's Hospital, Columbus, OH, USA.
To describe the frequency and types of hearing loss in children with syndromic and non-syndromic craniosynostosis. Retrospective cohort study. Large tertiary pediatric hospital.
View Article and Find Full Text PDFBioinformatics approach reveals the critical role of inflammation-related genes in age-related hearing loss.
Sci Rep
January 2025
Department of Otorhinolaryngology Head and Neck Surgery, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Age-related hearing loss (ARHL) is the most prevalent sensory impairment in the elderly. However, the pathogenesis of ARHL remains unclear. This study was aimed to explore the potential inflammation-related genes of ARHL and suggest novel therapeutic targets for this condition.
View Article and Find Full Text PDFA novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.
Nephrol Dial Transplant
January 2025
Paediatric Nephrology, UZ Leuven and Department of Cellular and Molecular Physiology, KUL, Leuven, Belgium.
Background And Hypothesis: ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase and pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) with deafness. Heterozygous variants predicted to affect a specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has been unclear. We hypothesised that these variants are associated with a dominant disease mechanism.
View Article and Find Full Text PDFOutcomes 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.
Clinical features and short-term outcomes of bilateral sudden sensorineural hearing loss: an eight-year experience at a tertiary center.
Acta Otolaryngol
January 2025
Department of Otorhinolaryngology, Head and Neck Surgery, Beijing Electric Power Hospital, Beijing, China.
Background: Sudden sensorineural hearing loss (SSNHL) typically affects one ear and is often linked to various underlying causes. However, bilateral SSNHL (BSSHL), where both ears are affected, is much rarer and presents a more severe clinical challenge.
Aims/objectives: To report the clinical features and short-term outcomes of patients with BSSHL.
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