Results 61 to 70 of about 139,033 (315)

Does Dysbiosis Play a Role in Age-Related Hearing Impairment? [PDF]

open access: yes, 2023
Age-related hearing impairment (ARHI) is prevalent in older adults, affecting at least 60% of people by the time they reach 71 to 80 years of age.1 The number of people with ARHI will necessarily increase as humans live longer and a greater proportion of
Cherny, SS   +5 more
core   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza   +19 more
wiley   +1 more source

Association between Proton Pump Inhibitors and Hearing Impairment: A Nested Case-Control Study

open access: yesCurrent Issues in Molecular Biology, 2021
This study investigated the association of previous use of proton pump inhibitors (PPIs) with the rate of hearing impairment. The ≥40-year-old population in the Korean National Health Insurance Service-Health Screening Cohort was enrolled.
So Young Kim   +4 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals 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   +21 more
wiley   +1 more source

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

open access: yesFrontiers 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   +4 more
doaj   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez   +10 more
wiley   +1 more source

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

open access: yesAnnals 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   +19 more
wiley   +1 more source

Verbal fluency in adults with postlingually acquired hearing impairment

open access: yes, 2013
This study examined verbal retrieval in participants with acquired moderate-to-severe sensorineural hearing impairment (M age = 63, M education level = 13 years) compared to participants with normal hearing thresholds (M age = 62, M education level = 14 ...
Classon, Elisabet,   +3 more
core   +1 more source

Longitudinal patterns of behavioral, emotional, and social difficulties and self-concept in adolescents with a history of specific language impairment [PDF]

open access: yes, 2012
Purpose: This study explored the prevalence and stability of behavioral difficulties and self-concepts between 8 and 17 years in a sample of children with a history of specific language impairment (SLI).
Dockrell, Julie E.   +2 more
core   +1 more source

CHARACTERISTICS AND INTERVENTIONS TO IMPROVE SKILLS OF CHILDREN WITH HEARING IMPAIRMENT

open access: yesBuana 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

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