Results 31 to 40 of about 44,192 (267)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
PLoS ONE, 2019 Hearing aids are the most common rehabilitation strategy for age-related hearing loss. However, 25% to 50% of older adults fitted with hearing aids do not wear them post-fitting. Hearing aid self-efficacy has been suggested as one of the key factors that
Eduardo Fuentes-López +3 more
doaj +1 more source
Systematic review of barriers and facilitators to hearing aid uptake in older adults
Audiology Research, 2011 A key element to success in the implementation of any screening for a health condition is that an effective treatment is available, accessible, and complied with.
L. Jenstad, J. Moon
doaj +1 more source
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 +21 more
wiley +1 more source
Metabolic and Microvascular Risk Factors Associated With Brain Health in Type 1 Diabetes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We examined relationships between metabolic factors, microvascular complications, and brain health in adults with type 1 diabetes. Fifty‐one adults were assessed for metabolic risk factors, microvascular complications, and cognitive function, with a subset completing brain MRI.
Jihyun Park +7 more
wiley +1 more source
Hearing Aids and the Brain [PDF]
International Journal of Otolaryngology, 2014 At the heart of most rehabilitation programs for people with hearing loss is the use of amplification. The purpose of hearing aid amplification is to improve a person's access to sound. Depending on the degree and configuration of the individual's hearing loss, the hearing aid is tasked with increasing sound levels at different frequency regions to ...
Tremblay, K. L. +4 more
openaire +2 more sources
Arthritis Care &Research, EarlyView.Objective A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)
Shivani Garg +20 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Comparing auditory perception in children with cochlear implant, hearing aids and normal hearing
مجله پژوهش در علوم توانبخشی, 2013 Introduction: Hearing impairment affects all aspect of individual life, especially auditory perception, while use of cochlear implant or hearing aids has been associated with appropriate effects in auditory performance.
Seyed Somaye Jalil-Abkenar +2 more
doaj +1 more source
Rheumatologic Manifestations of Patients With Type B Insulin Resistance
Arthritis Care &Research, EarlyView.Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya +4 more
wiley +1 more source