Results 31 to 40 of about 258,829 (315)

The audiological phenotype of patients with a variant in MYH9 and MYH14 genes

Scientific Reports
Mutations in MYH9 and MYH14 are associated with autosomal dominant, progressive sensorineural hearing loss. This study aimed to characterize and compare the clinical and audiological features of patients with MYH9 or MYH14 variants.
Seong Hoon Bae, Sun Young Joo, Seung Hyeon Jang, Sung Huhn Kim, Jae Young Choi, Dongju Won, Heon Yung Gee, Jinsei Jung   +7 more
doaj   +1 more source

Congenital hearing loss [PDF]

Nature Reviews Disease Primers, 2017
Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and
Korver, Anna M.H., Smith, Richard J. H., Van Camp, Guy, Schleiss, Mark R., Bitner-Glindzicz, Maria A.K., Lustig, Lawrence R., Usami, Shin-ichi, Boudewyns, An N.   +7 more
openaire   +3 more sources

Incidence and Severity of Carboplatin‐Associated Hearing Loss in Children With Cancer Assessed by the SIOP Boston 2012 Ototoxicity Criteria

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Platinum‐based chemotherapy is known to cause severe and debilitating hearing loss, but unlike cisplatin, the true incidence of carboplatin‐induced hearing loss remains unclear. We evaluated functional hearing outcomes in children receiving carboplatin to determine the incidence and severity of ototoxicity. Procedure We identified a
Aniket Chawla, Sean Carter, Andrew Wood, Sandra Staffieri, Andrew Dodgshun, David D. Eisenstat, Michael Sullivan   +6 more
wiley   +1 more source

Auditory genotype-phenotype correlation of patients with variants in STRC

Scientific Reports
Pathogenic variants in the STRC gene are among the most common causes of autosomal recessive non-syndromic hearing loss, particularly in cases with mild-to-moderate sensorineural hearing loss (SNHL).
Tae Uk Cheon, Sun Young Joo, Sung Huhn Kim, Jae Young Choi, Dongju Won, Heon Yung Gee, Jinsei Jung   +6 more
doaj   +1 more source

Recent preclinical and clinical advances in gene therapy for hereditary hearing loss

Molecules and Cells
: Hereditary hearing loss is a genetically heterogeneous condition that affects millions of people worldwide and has limited curative treatment options.
Seung Hyun Jang, Hyeong Gi Song, Jinsei Jung, Heon Yung Gee   +3 more
doaj   +1 more source

On Hierarchical Composite Endpoints in Pediatric Cancer Supportive Care: Illustrative Examples From Two Multi‐Center Phase‐III Randomized Clinical Trials

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric supportive care clinical trials often involve multiple clinically important outcomes, complicating trial interpretation. Hierarchical composite endpoints (HCEs) provide a framework to integrate key outcomes according to clinical importance.
Willem H. Collier, Mark Zobeck, Adam J. Esbenshade, Christopher C. Dvorak, Lillian Sung, David Freyer, Sarah Alexander, Etan Orgel, Nicole J. Ullrich, Zach Prudowsky, Brian Fisher, Caitlin W. Elgarten   +11 more
wiley   +1 more source

Intracochlear Vestibular Schwannoma Presenting with Mixed Hearing Loss [PDF]

, 2021
As for other vestibular schwannomas, intralabyrinthine schwannomas commonly cause a sensorineural hearing loss, contrary to more lateral ear pathology that can cause conductive or mixed hearing loss.
Jumana Diana Reda, Per Cayé-Thomasen, West, Niels, Niels West, Cayé-Thomasen, Per, Diana Reda, Jumana   +5 more
core   +1 more source

Risk factors for hearing loss in children: a systematic literature review and meta-analysis protocol

Systematic Reviews, 2019
Background Hearing loss in newborns and children is a public health concern, due to high prevalence and negative effects on their development. Early detection and intervention of childhood hearing loss may mitigate these negative effects.
Bénédicte Vos, Dorie Noll, Marie Pigeon, Marlene Bagatto, Elizabeth M. Fitzpatrick   +4 more
doaj   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Biallelic variants of SEMA3F are associated with nonsyndromic hearing loss

Molecules and Cells
: It is crucial to manage hearing loss and its associated public health impacts. In this study, we aimed to understand the role of Sema3f in the development and maintenance of the auditory system. Inner ear-specific Sema3f knockout mice exhibited hearing
Sun Young Joo, Hyehyun Min, Jung Ah Kim, Se Jin Kim, Seung Hyun Jang, Ho Lee, Kyu Min Kim, Je Kyung Seong, Jae Young Choi, Jinsei Jung, Jinwoong Bok, Heon Yung Gee   +11 more
doaj   +1 more source