Results 41 to 50 of about 2,520 (172)

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12‐transmembrane domain protein that exports the charged sugar N‐acetylneuraminic acid (Neu5Ac; sialic acid) out of the lysosome.
Zoe Wolfenson, Gabriella Grois, Ruth F. Hailemeskel, Marla Sabaii, Laryssa A. Huryn, Wadih M. Zein, Tanya Lehky, Audrey Thurm, Lisa Joseph, Eva H. Baker, Gilbert Vezina, Keith Hyland, Laura Pollard, Ellen Macnamara, Andrea Gropman, May C. Malicdan, William A. Gahl, David R. Adams, Lynne Wolfe   +18 more
wiley   +1 more source

Electrocochleographic Changes Predict an Early Sign of Cochlear Degeneration

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 12, Issue 1, Page 89-100, February 2026.
ABSTRACT Objectives The purpose of this study is to identify the earliest appearing auditory electrophysiological indicators that change with age progression in young adults with normal hearing, and to analyze the frequency distribution patterns of these markers in the cochlear.
Min‐Fei Qian, Hao Chen, Qi‐Xuan Wang, Ya‐Qi Zhou, Xiao‐Lu Chen, Zhi‐Wu Huang, Ji‐Ping Li   +6 more
wiley   +1 more source

Alterações auditivas em crianças expostas à toxoplasmose durante a gestação

Revista CEFAC
RESUMO Objetivo: verificar a ocorrência e o tipo mais frequente de alteração auditiva em crianças expostas a toxoplasmose durante a gestação. Métodos: estudo retrospectivo longitudinal realizado em instituição pública de saúde de São Paulo.
Carlos Alberto Leite Filho, Lorena Carvalho Cavalcanti Lagreca, Natália Oliveira de Jesus, Cristiana Porchia Corvaro, Maria Aparecida Gadiani Ferrarini, Ana Isabel Melo Pereira Monteiro, Marisa Frasson de Azevedo   +6 more
doaj   +1 more source

Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility

Autism Research, Volume 19, Issue 1, January 2026.
ABSTRACT Auditory hypersensitivity is a prominent symptom in Fragile X syndrome (FXS), the most prevalent monogenic cause of autism and intellectual disability. FXS arises through the loss of the protein encoded by the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene, FMRP, required for normal neural circuit excitability.
Dorit Möhrle, Demi Ma, Wenyue Xue, Jun Yan, Ning Cheng   +4 more
wiley   +1 more source

SUFU Loss‐of‐Function Heterozygous Variants Cause a Distinct Neurodevelopmental Delay With Simultaneous Effects on Brain Size

Human Mutation, Volume 2026, Issue 1, 2026.
Heterozygous loss‐of‐function variants in SUFU are associated with Gorlin syndrome (MIM:620343) and tumor predisposition, while biallelic missense variants underlie recessive Joubert syndrome (JS; MIM:617757). Interestingly, emerging evidence suggests that SUFU haploinsufficiency also contributes to neurodevelopmental disorders (NDDs).
Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Lorena Travaglini, Mathilde Nizon, Hilde Van Esch, Julie Vogt, Nick Drinkall, Joanna Jarvis, Emanuele Agolini, Mario Bengala, Alessandro Mussa, Antonio Novelli, Giuseppe Novelli, Stuart Scott   +14 more
wiley   +1 more source

Características das emissões otoacústicas em lactentes expostos à medicação ototóxica Characteristics of otoacoustic emissions in infants exposed to ototoxic drugs

Revista da Sociedade Brasileira de Fonoaudiologia, 2009
OBJETIVO: Analisar as emissões otoacústicas (EOA) em lactentes submetidos a tratamento por medicação ototóxica no período neonatal. MÉTODOS: Foi realizada a captação das EOA por transiente (EOAT) e das EOA produto de distorção (EOAPD) em 40 lactentes: 14
Andreza Ferreira dos Santos, Alessandra Spada Durante, Katia de Almeida, Carlos Kazuo Taguchi, Maria Cecilia Greco   +4 more
doaj   +1 more source

Ocorrência de alterações auditivas em lactentes expostos à transmissão vertical do HIV

Audiology: Communication Research, 2018
RESUMO Objetivo Verificar a ocorrência de alterações auditivas periféricas e centrais em lactentes expostos à transmissão vertical do HIV. Métodos Análise retrospectiva de 144 prontuários de lactentes que passaram por avaliação auditiva ao nascimento,
Monalisa Alves Dantas Padilha, Elaine Colombo Sousa Maruta, Marisa Frasson de Azevedo   +2 more
doaj   +1 more source

Spontaneous and evoked otoacoustic emissions in preterm neonates [PDF]

The Laryngoscope, 1992
AbstractSpontaneous (SOEs) and evoked otoacoustic emissions (EOEs) were recorded in a group of preterm neonates (N = 134 ears) in order to study the basic properties of SOEs and EOEs as a function of gestational age. In the study, it was found that: 1. EOEs were recorded in 93% of the tested ears; 2.
P, Bonfils, M, Francois, P, Avan, A, Londero, J, Trotoux, P, Narcy   +5 more
openaire   +2 more sources

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, Volume 3, Issue 6, November 2025.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Prolonged Exposure of CBA/Ca Mice to Moderately Loud Noise Can Cause Cochlear Synaptopathy but Not Tinnitus or Hyperacusis as Assessed With the Acoustic Startle Reflex

Trends in Hearing, 2018
Hearing loss changes the auditory brain, sometimes maladaptively. When deprived of cochlear input, central auditory neurons become more active spontaneously and begin to respond more strongly and synchronously to better preserved sound frequencies.
Martin Pienkowski
doaj   +1 more source