Results 41 to 50 of about 124,361 (268)

Tmprss3 is expressed in several cell types of the inner ear including type II but hardly in type I spiral ganglion neurons

Frontiers in Cellular Neuroscience
Mutations in the transmembrane serine protease 3 gene (TMPRSS3) cause non-syndromic hearing impairment, with congenital (DFNB10) or late childhood onset (DFNB8).
Ramil Arora, Lucie Pifková, André Ulrich Deutschmann, Ellen Reisinger, Ellen Reisinger   +4 more
doaj   +1 more source

Hearing Impairment and Psychosis

International Psychogeriatrics, 1993
The study explores the relationship between hearing impairment and psychotic illness in twenty hospitalized patients (aged 55-77) using as controls twenty age-matched community-based older subjects with no psychiatric illness. All subjects received full psychiatric evaluations and comprehensive audiologic assessments. Data were analyzed by discriminant
L M, Stein, O J, Thienhaus
openaire   +2 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

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

CHARACTERISTICS AND INTERVENTIONS TO IMPROVE SKILLS OF CHILDREN WITH HEARING IMPAIRMENT

Buana Gender: Jurnal Studi Gender dan Anak, 2021
This study aims to explain the characteristics, etiologies, identifications, impacts, interventions, and some factors that contribute to individuals and students with hearing impairment.
Kusumasari Kartika Hima Darmayanti
doaj   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Comparison of Self-Determination Ability and its Components in Individuals with Hearing Impairment, Visual Impairment and without Impairment [PDF]

پژوهشنامه روانشناسی مثبت, 2016
The aim of the research was comparison of self-determination ability and its components in individuals with hearing or visual impairment, and without impairment.
s Shojaee, A. A. Hossein Khanzadeh, S. Z Seyyed Noori, s Sharifi   +3 more
doaj   +1 more source

Factors Associated With the Rising Trend in Self‐Reported Cognitive Disability Among U.S. Adults Aged 18–39 From 2013–2024

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Building on our prior Behavioral Risk Factor Surveillance System analysis identifying adults aged 18–39 as the primary driver of the national increase in self‐reported cognitive disability, we examined factors associated with this rise using 2013–2024 U.S. BRFSS data. Methods We analyzed U.S.
Adam de Havenon, Ka‐Ho Wong, Mirriam Mananah, Christopher D. Anderson, Ada Fenick, Amy Arnsten, Arman Fesharaki‐Zadeh, James C. McPartland, Mary L. Adams, Kevin N. Sheth   +9 more
wiley   +1 more source

Visual impairment in the hearing impaired students

Indian Journal of Ophthalmology, 2009
Ocular problems are more common in children with hearing problems than in normal children. Neglected visual impairment could aggravate educational and social disability.To detect and treat visual impairment, if any, in hearing-impaired children.Observational, clinical case series of hearing-impaired children in schools providing special education ...
Gogate Parikshit, Rishikeshi Nikhil, Mehata Reshma, Ranade Satish, Kharat Jitesh, Deshpande Madan   +5 more
openaire   +3 more sources

The Association of Physical Function With Psychosocial Patient‐Reported Outcomes in People With Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective To evaluate how modifiable psychosocial factors and fatigue relate to physical functioning in patients with systemic lupus erythematosus (SLE). Methods In this cross‐sectional study of two demographically distinct cohorts (Approaches to Positive, Patient‐Centered Experiences of Aging with Lupus [APPEAL] and California Lupus Epidemiology Study
Mrinalini Dey, Jessica Fitzpatrick, Maria Dall'Era, Charmayne Dunlop‐Thomas, Courtney Hoge, S. Sam Lim, Patricia P. Katz, Jinoos Yazdany, Laura C. Plantinga   +8 more
wiley   +1 more source