Split hand/split foot malformation (SHFM), which typically appears as lobster-like limb malformation, is a rare clinical condition caused by a partial deletion of chromosome 7q. Hearing impairment sometimes accompanies syndromic SHFM cases; a case of inner and middle ear malformation with SHFM is described in this report. We conducted a genetic evaluation of this patient and found a deleted region that overlaps a previously reported locus of SHFM as well as a DFNB14 locus that can cause nonsyndromic hearing impairment by autosomal recessive inheritance.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0165-5876(03)00193-9 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Aberrant auditory prediction patterns robustly characterize tinnitus.
Elife
December 2024
Centre for Cognitive Neuroscience and Department of Psychology, Paris-Lodron-University of Salzburg, Salzburg, Austria.
Phantom perceptions like tinnitus occur without any identifiable environmental or bodily source. The mechanisms and key drivers behind tinnitus are poorly understood. The dominant framework, suggesting that tinnitus results from neural hyperactivity in the auditory pathway following hearing damage, has been difficult to investigate in humans and has reached explanatory limits.
View Article and Find Full Text PDFReal sounds influence postural stability in people with vestibular loss but not in healthy controls.
PLoS One
January 2025
Department of Otolaryngology-Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.
Objective: What we hear may influence postural control, particularly in people with vestibular hypofunction. Would hearing a moving subway destabilize people similarly to seeing the train move? We investigated how people with unilateral vestibular hypofunction and healthy controls incorporated broadband and real-recorded sounds with visual load for balance in an immersive contextual scene.
Design: Participants stood on foam placed on a force-platform, wore the HTC Vive headset, and observed an immersive subway environment.
Lipreading as a communication strategy to enhance speech recognition in individuals with hearing impairment: a scoping review.
Disabil Rehabil Assist Technol
January 2025
School of Rehabilitation Therapy, Queen's University, Kingston, Ontario, Canada.
This article explores the existing research evidence on the potential effectiveness of lipreading as a communication strategy to enhance speech recognition in individuals with hearing impairment. A scoping review was conducted, involving a search of six electronic databases (MEDLINE, Embase, Web of Science, Engineering Village, CINAHL, and PsycINFO) for research papers published between January 2013 and June 2023. This study included original research papers with full texts available in English, covering all study designs: qualitative, quantitative, and mixed methods.
View Article and Find Full Text PDFExperimental study on the preventive effect of Anemarrhena rhizome on pregnancy loss and the incidence rate of cleft palate in A/J mice.
Congenit Anom (Kyoto)
January 2025
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.
Pregnancy loss is a significant concern worldwide, encompassing miscarriage and stillbirth. Miscarriage, defined as the loss of a baby before 28 weeks of gestation, accounts for approximately 15% of pregnancies. Stillbirth, occurring at or after 28 weeks of gestation, affects nearly 2.
View Article and Find Full Text PDFFactors Associated With Social-Pragmatic Understanding in Deaf and Hard of Hearing and Typically Hearing 6-Year-Old Children.
J Speech Lang Hear Res
January 2025
Research Unit of Logopedics and the Child Language Research Center, University of Oulu, Finland.
Purpose: Children develop social-pragmatic understanding with the help of sensory, cognitive, and linguistic functions by interacting with other people. This study aimed to explore (a) associations between auditory, demographic, cognitive, and linguistic factors and social-pragmatic understanding in children who use bilateral hearing aids (BiHAs) or bilateral cochlear implants (BiCIs) and in typically hearing (TH) children and (b) the effect of the group (BiHA, BiCI, TH) on social-pragmatic understanding when the effects of demographic, cognitive, and linguistic factors are controlled for.
Method: The Pragma test was used to assess social-pragmatic understanding in 119 six-year-old children: 25 children who use BiHAs, 29 who use BiCIs, and 65 TH children.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!