Results 51 to 60 of about 3,568 (145)
PLoS ONE, 2021 Waardenburg syndrome (WS) is a hereditary disorder affecting the auditory system and pigmentation of hair, eyes, and skin. Different variants of the disease exist with the involvement of mutation in six genes.
Maan Abdullah Albarry +6 more
doaj +1 more source
Nursing in Critical Care, Volume 30, Issue 4, July 2025.Abstract Background More self‐efficacy leads to greater confidence in one's ability to perform actions to achieve treatment goals. Therefore, self‐efficacy may affect patient recovery and health‐related quality of life (HRQoL) after ICU discharge. Aim In a cohort of mechanically ventilated COVID‐19 survivors, we examined the associations between self ...
Laura M. Tiels +10 more
wiley +1 more source
Revista de Ciencias Médicas de Pinar del Río, 2012 Introducción: el síndrome de Waardenburg es una entidad infrecuente, que cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial y la discapacidad visual; se ha detectado en el municipio Sandino en Pinar del Río, una familia ...
Fidel Castro Pérez +4 more
doaj
The Interconnected World of Dermatology and Ophthalmology
JEADV Clinical Practice, Volume 4, Issue 2, Page 389-399, June 2025.Medical science, is an integrated field that shares intricate relationship between various organ systems. Similarly, dermatology is inter‐related with various other specialties including ophthalmology. This article depicts the correlation of ophthalmology and dermatology iterating on the genetic diseases, autoimmune diseases, systemic disorders ...
Gyanesh Rathore +4 more
wiley +1 more source
Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing
Molecular Genetics & Genomic Medicine, 2020 Background Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory‐pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration.
Shumin Ren +6 more
doaj +1 more source
Dermatology Online Journal, 2008 A case of Shah-Waardenburg syndrome, a rare variant of Waardenburg syndrome, is presented. Inherited as an autosomal recessive or dominant trait, the disorder presumably results from defective migration of neural crest cells. It clinically manifests with pigmentary anomalies and congenital megacolon.
openaire +4 more sources
Pediatric Bilateral Vestibular Hypofunction: A Review of 26 Cases
The Laryngoscope, Volume 135, Issue 6, Page 2176-2181, June 2025.We report a pediatric cohort of patients with peripheral bilateral vestibular hypofunction (BVH) at a multidisciplinary, tertiary care pediatric vestibular clinic. Patients frequently had history of sensorineural hearing loss and developmental delays, with associated vestibulo‐ocular reflex (VOR) impairments during testing.
Tiffany Peng Hwa +5 more
wiley +1 more source
Acta Paediatrica, Volume 114, Issue 6, Page 1464-1477, June 2025.ABSTRACT Aim This study aimed to develop a universally applicable core set of quality indicators for Hirschsprung's disease care through a consensus‐driven process, to standardise and improve care quality across Europe. Methods A modified Delphi method was used to achieve consensus among healthcare professionals (HPs) and patient representatives (PRs ...
Daniel Rossi +99 more
wiley +1 more source
Waardenburg syndrome type2 in a 10 month old infant; a case report
Journal of Mazandaran University of Medical Sciences, 2009 (Received 17 August, 2009 ; Accepted 9 December, 2009)AbstractBackground and purpose: Waardenburg syndrome (WS) is a rare disease characterized by sensor neural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues.
Salar Behzadnia
doaj
Revista de Ciencias Médicas de Pinar del Río, 2012 Introducción: el síndrome de Waardenburg es una entidad infrecuente, hereditaria, que presenta heterocromía del iris, Distopia cantorum y cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial entre otras alteraciones ...
Fidel Castro Pérez +4 more
doaj