Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%-3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. The features of the syndrome that may bear importance for anaesthetic management are laryngomalacia, multiple muscle contractures, limited neck movements, cyanotic cardiopathy and electrolyte imbalance. Patients with Waardenburg syndrome stand for difficult airway. We aimed to report anaesthetic management of a child with Waardenburg syndrome who underwent surgery for cochlear implantation.
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http://dx.doi.org/10.5152/TJAR.2015.52714 | DOI Listing |
Orphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
View Article and Find Full Text PDFNurs Crit Care
January 2025
Department of Intensive Care Medicine, Maastricht University Medical Centre+, Maastricht, The Netherlands.
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-efficacy at 3 months and HRQoL at 3, 12 and 24 months after discharge.
Worldwide, congenital deafness and pigmentation disorders impact millions with their diverse manifestations, and among these genetic conditions, mutations in the Microphthalmia-associated transcription factor (MITF: OMIM#156845) gene are notable for their profound effects on melanocyte development and auditory functions. This study reports a novel porcupine model exhibiting spontaneous deafness and pigmentation abnormalities reminiscent of human Waardenburg Syndrome Type 2 (WS2: OMIM#193510). Through phenotypic characterization, including coat color, skin, eye morphology, and auditory brainstem response (ABR) assessments, we identified hypopigmentation and complete deafness in mutant porcupines.
View Article and Find Full Text PDFOtol Neurotol
January 2025
Department of Otorhinolaryngology, Head & Neck Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Objective: To evaluate the audiologic outcomes after cochlear implantation (CI) in prelingually deaf children with comorbid disorders.
Study Design: Retrospective study.
Setting: Tertiary care academic center.
Ear Nose Throat J
December 2024
Department of Otorhinolaryngology and Head-Neck Surgery, Medical College and Hospital, Kolkata, West Bengal, India.
Congenital depigmentation may be associated with congenital sensorineural hearing loss leading to non-development of verbal speech. To illustrate the clinical features and work-up of 3 children diagnosed with auditory pigmentary disorders (APDs). Case series with a review of the literature.
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