Results 61 to 70 of about 3,605,025 (319)

Interaction between audiology and genetics in the study of a family: the complexity of molecular diagnosis and genetic counseling

Brazilian Journal of Otorhinolaryngology, 2008
Summary: Hearing loss is a multifaceted condition with many etiologies, among which genetic mutation is. Therefore, it is important to connect audiological investigation to etiological diagnosis.
Flavia Maria Rodrigues Hoffmann, Patrícia Fernandes Rodrigues, Teresa Maria Momensohn dos Santos, Edi Lucia Sartorato, Andréa Trevas Maciel-Guerra, Carla Gentile Matas, Vanessa Cristine Sousa de Moraes   +6 more
doaj   +1 more source

HEARING DISTRIBUTION OF IDIOPATHIC BILATERAL SENSORINEURAL HEARING LOSS

Nippon Jibiinkoka Gakkai Kaiho, 1993
We investigated the mode of progression of idiopathic bilateral sensorineural hearing loss diagnosed in patients seen in the Hearing Loss Clinic at the Department of Otolaryngology of Kitasato University Hospital. Entered into the study were 105 patients whose courses could be observed for more than 3 years.
openaire   +3 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Bilateral sensorineural hearing loss due to mumps

International Journal of Clinical Practice, 1990
Viral infections implicated in acute hearing loss include rubella, measles, mumps, herpes zoster, cytomegalovirus and influenza. Mumps' deafness is the best documented disorder. We describe a case where bilateral sensorineural hearing loss, following a severe mumps infection at the age of two, remained unnoticed until the age of four when the patient ...
A, Kayan, H, Bellman
openaire   +2 more sources

Speech processing for hearing aids for moderate bilateral sensorineural hearing loss [PDF]

2004 IEEE International Conference on Acoustics, Speech, and Signal Processing, 2004
Binaural dichotic presentation can be used for reducing the effects of increased temporal and spectral masking associated with sensorineural loss and for improving speech perception by persons with moderate bilateral loss. Speech processing schemes were implemented based on adjustable gain filtering, spectral splitting with perceptually balanced comb ...
CHEERAN, AN, PANDEY, PC
openaire   +2 more sources

Individuals With Multijoint Osteoarthritis Demonstrate Larger Longitudinal Declines in Frailty: Data From the Canadian Longitudinal Study on Aging

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to test the hypothesis that multijoint osteoarthritis would modify the relation between time and frailty progression, in which more affected joints would lead to larger declines over six years compared to those without osteoarthritis using data from the Canadian Longitudinal Study on Aging.
Carson Halliwell, Rebecca Moyer, Myles W. O'Brien   +2 more
wiley   +1 more source

Selecting Appropriate Tests to Assess the Benefits of Bilateral Amplification With Hearing Aids

Trends in Hearing, 2016
The aim of this study was to investigate the effect of bilateral hearing aids (HA) in subjects with mild and moderate-to-severe hearing loss. This study was designed as a within-subject feasibility study.
Jelmer van Schoonhoven, Michael Schulte, Monique Boymans, Kirsten C. Wagener, Wouter A. Dreschler, Birger Kollmeier   +5 more
doaj   +1 more source

Social skills in preschool children with unilateral and mild bilateral hearing loss

, 2017
Hearing loss may represent a risk for developing social skills difficulties; however, little is known about the potential risk resulting from unilateral or mild bilateral hearing loss (UMHL).
Nina Jakhelln Laugen, K. Jacobsen, C. Rieffe, L. Wichstrøm   +3 more
semanticscholar   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Hereditary bilateral sudden sensorineural hearing loss

Bratislava Medical Journal, 2019
The aim of our study is to demonstrate a causal link between two distinct diagnoses, the hereditary hearing loss, and the sudden sensorineural hearing loss.Sudden sensorineural hearing loss is an emergency condition in otolaryngology and a rare diagnosis in childhood.
L, Varga, A, Jovankovicova, M, Huckova, L, Demesova, D, Gasperikova, I, Sebova, M, Profant   +6 more
openaire   +3 more sources