Results 91 to 100 of about 2,252,434 (232)

Investigation of Third Window Symptoms in Patients With Enlarged Vestibular Aqueduct: A Pilot Study

OTO Open, Volume 9, Issue 1, January-March 2025.
Abstract Objective To assess if patients with enlarged vestibular aqueduct (EVA) experience symptoms characteristic of other third mobile window disorders such as superior semicircular canal dehiscence syndrome (SCDS). Study design Cross‐sectional study. Setting Tertiary care center. Methods Adult and pediatric patients with EVA were screened. Patients
Kimberley S. Noij, Emily Y. Huang, Nadia L. Samaha, Jonathan M. Walsh, Bryan K. Ward, John P. Carey, Carolyn M. Jenks   +6 more
wiley   +1 more source

Report of Iranian Family with Pendred Syndrome with New Mutation T420I, and Multiply Heterozygous New Mutation T420I and 1197delT

Journal of Rehabilitation, 2005
The incidence of profound congenital hearing loss is about 1 in 1,000 live birth. There are more than 50 distinct genetic loci (known as DFNB loci) at which mutations can cause recessive hearing loss. DFNB4, one recessive locus for deafness, also maps to
Hossein Najm-Abadi, Kimia Kahrizi, Marzieh Mohseni, Fatemeh Sadat Esteghamat, Sanaz Arzhangi, Richard Smith   +5 more
doaj  

The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast

Journal of Genetic Counseling, Volume 33, Issue 5, Page 1026-1034, October 2024.
Abstract The use of expanded carrier screening (ECS) to assess reproductive risk for autosomal recessive (AR) or X‐linked recessive (XLR) conditions has been increasingly integrated into obstetrical care. The aim of this study was to determine what proportion of pediatric patients seen by a medical genetics practice could have had their diagnosis ...
Kelly Roche, Shama P. Khan, Christina Botti, Philip Giampietro, Sharon Anderson, Elena Ashkinadze   +5 more
wiley   +1 more source

Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model

BMC Medicine, 2006
Background Pendred syndrome, an autosomal-recessive disorder characterized by deafness and goiter, is caused by a mutation of SLC26A4, which codes for the anion exchanger pendrin.
Everett Lorraine A, Wall Susan M, Fleming Sherry, Maganti Rajanikanth J, Singh Ruchira, Oelke Alisha, Jabba Sairam V, Green Eric D, Wangemann Philine   +8 more
doaj   +1 more source

KELAINAN TIROID MASA BAYI: [PDF]

, 2009
Hormon tiroid sangat penting untuk metabolisme energi, nutrien dan ion organik, termogenesis serta merangsang pertumbuhan dan perkembangan berbagai jaringan, pada periode kritis juga untuk perkembangan susunan syaraf pusat dan tulang [1, 2].
Susanto, Rudy
core  

Paediatric thyroid disease

Clinical Endocrinology, Volume 101, Issue 3, Page 223-233, September 2024.
Abstract The spectrum of thyroid disorders presenting to paediatricians is different to that seen by adult physicians. Referrals reflect cases detected by the neonatal screening programme for congenital hypothyroidism and many of the inherited defects of thyroid hormone generation or action will be manifest in early life. Autoimmune thyroid disease can
Timothy Cheetham, Claire Wood
wiley   +1 more source

Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

Journal of Translational Medicine, 2008
Background The molecular etiology of hearing impairment in Chinese has not been thoroughly investigated. Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations.
Wu Bailin, Yuan Huijun, Kang Dongyang, Yu Fei, Zhu Xiuhui, Huang Deliang, Yuan Yongyi, Dai Pu, Han Dongyi, Wong Lee-Jun C   +9 more
doaj   +1 more source

DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model

Molecular Therapy: Methods & Clinical Development, 2020
The His723Arg (H723R) mutation in SLC26A4, encoding pendrin, is the most prevalent mutation in East Asia, resulting in DFNB4, an autosomal recessive type of genetic hearing loss.
Hye Ji Choi, Hyun Jae Lee, Jin Young Choi, Ik Hyun Jeon, Byunghwa Noh, Sushil Devkota, Han-Woong Lee, Seong Kug Eo, Jae Young Choi, Min Goo Lee, Jinsei Jung   +10 more
doaj   +1 more source

Pendred's syndrome.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2003
This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahim YarKhan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case.
M I Babar, Hashmi, Muhammad Jahangir, Khan, Nadeem, Abbasi, Ijaz Ahmed, Cheema, Ghulam, Qasim   +4 more
openaire   +1 more source

Pendred’s syndrome - consequences of thyroidectomy [PDF]

Postgraduate Medical Journal, 1981
Summary A 73-year-old-man with Pendred’s syndrome is described who presented with hypoparathyroidism and tracheal compression 31 years after thyroidectomy.
C G, Winearls, R, Smith
openaire   +2 more sources