Results 41 to 50 of about 179,655 (257)

Can unilateral, progressive or sudden hearing loss be immune-mediated in origin? [PDF]

, 2017
OBJECTIVE: The aim of the present study was to demonstrate that the positivity of nonspecific immunological tests could be found not only in bilateral hearing loss but also in unilateral cases, either sudden or progressive. METHOD: An observational case
Atturo, Francesca, Bandiera, Giorgio, Barbara, Maurizio, Colangeli, R, Monini, Simonetta   +4 more
core   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Unilateral sensorineural hearing loss identification based on double-density dual-tree complex wavelet transform and multinomial logistic regression

Integr. Comput. Aided Eng., 2019
AIM: Unilateral sensorineural hearing loss is a brain disease, which causes slight morphology changes within brain structure. Traditional manual method may ignore this change. METHOD: In this work, we developed a novel method, based on the double-density
Shui-hua Wang, Yudong Zhang, Ming Yang, B. Liu, J. Ramírez, J. Górriz   +5 more
semanticscholar   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Predicting the hearing outcome in sudden sensorineural hearing loss via machine learning models

Clinical Otolaryngology, 2018
Sudden sensorineural hearing loss (SSHL) is a multifactorial disorder with high heterogeneity, thus the outcomes vary widely. This study aimed to develop predictive models based on four machine learning methods for SSHL, identifying the best performer ...
D. Bing, J. Ying, J. Miao, L. Lan, Da-yong Wang, Longzhu Zhao, Z. Yin, Lan Yu, J. Guan, Qiuju Wang   +9 more
semanticscholar   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Cutting‐Edge Advancements in Physical Stimulation for Spiral Ganglion Neuron Protection and Regeneration

Advanced NanoBiomed Research, EarlyView.
Physical stimulation strategies have emerged as a therapeutic avenue for the regeneration of spiral ganglion neurons. This review explores diverse physical stimulation modalities—including topographical modulation, electrical stimulation, and photostimulation—each operating through distinct mechanisms to regulate SGN biological behavior. By elucidating
Yuhan Bai, Bin Zhang, Hong Cheng, Yunzhu Huang, Xinyue Han, Yangnan Hu, Renjie Chai, Wei Cao   +7 more
wiley   +1 more source

Acute bilateral sensorineural hearing loss: an unexpected and early presentation of acute stroke [PDF]

, 2015
We report a case of acute ischemic stroke presented as acute bilateral sensorineural hearing loss. 47 year-old man presented with bilateral hearing loss for one day. Pure tone audiometry revealed moderate bilateral sensorineural hearing loss.
Boo, Yang Liang, Ching, Siew Mooi, Hoo, Fan Kee, Mohd Sazlly Lim, Sazlyna, Ramachandran, Vasudeven, Wan Sulaiman, Wan Aliaa   +5 more
core  

Mild hearing loss: performance in the Sustained Auditory Attention Ability Test [PDF]

, 2010
TEMA: a perda auditiva na infância é um fator de risco para o atraso no desenvolvimento. OBJETIVO: verificar o desempenho de crianças diagnosticadas com perda auditiva de grau leve - condutiva e sensorioneural, no Teste da Habilidade de Atenção Auditiva ...
CARVALHO, Fernanda Ribeiro Pinto de, FENIMAN, Mariza Ribeiro, LAURIS, José Roberto Pereira, MONDELLI, Maria Fernanda Capoani Garcia   +3 more
core   +2 more sources