Results 71 to 80 of about 7,958 (196)

Relationship between fear, fall & balance in cummunity dwelling older adults [PDF]

open access: yes, 2015
Background: In older population the risk of fall is always at high risk and there are many contributing factor which increase the prevalence of fall. The impaired balance leads to limited daily activities and confidence level.
Afridi, Ayesha   +2 more
core   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

open access: yes
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
The principal symptoms of the proband comprised profound sensorineural hearing loss since childhood, severe visual impairment, congenital cataracts, cone‐rod dystrophy, and ataxia. Whole Exome Sequencing (WES) revealed that the proband carried a compound heterozygous variant in the ABHD12 gene: M1, a known nonsense variation c.477G>A (p.Trp159Ter); and
Meijiao Ma   +6 more
wiley   +1 more source

Disorders of fatty acid homeostasis

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources (“essential FA”). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of
Frédéric M. Vaz   +3 more
wiley   +1 more source

Relationship between the national universities commission resource allocation parameters used in allocating funds to teaching and learning and research and development and the outcomes of federal universities in Nigeria [PDF]

open access: yes, 2018
The National Universities Commission Resource Allocation Parameters were developed by the National Universities Commission (NUC), for the allocation of funds to all the federal universities in Nigeria.
Bello Garba, Kofar Sauri
core   +1 more source

The needs of family members of people with severe or profound intellectual disabilities when collaborating with healthcare professionals: a systematic review

open access: yesJournal of Intellectual Disability Research, Volume 69, Issue 1, Page 1-29, January 2025.
Abstract Background Collaboration with healthcare professionals is crucial in arranging necessary lifelong support for people with intellectual disabilities. However, family members often face challenges when collaborating with healthcare professionals.
K. van Beurden   +3 more
wiley   +1 more source

Conventional and advanced MR imaging in infantile Refsum disease

open access: yesThe Turkish Journal of Pediatrics, 2015
We report magnetic resonance (MR) imaging findings including diffusion-weighted imaging and proton MR spectroscopy findings in a patient with infantile Refsum disease.
Mustafa Kılıç   +5 more
doaj  

Relationship of homocysteine, insulin sensitivity and cardiovascular risk factors among the brazilian Parkatêjê Indians [PDF]

open access: yes, 2002
Hyperhomocysteinemia is an independent cardiovascular risk factor. There are controversies about a possible relation between homocysteine and insulin resistance/sensitivity.
Andriolo, Adagmar   +3 more
core   +4 more sources

Charcot‐Marie‐Tooth disease in children

open access: yesAnnals of the Child Neurology Society, Volume 2, Issue 4, Page 256-268, December 2024.
Abstract Charcot‐Marie‐Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals.
Ezgi Saylam   +4 more
wiley   +1 more source

Nutrition-Based Modulation of Poly-ADP-Ribosylation and its possible role in Alzheimer’s disease [PDF]

open access: yes, 2015
Alzheimer’s Disease (AD) is the most common neurodegenerative disease and the main reason of dementia in the elderly. On the pathological point of view, it is characterized by extracellular aggregates of amyloid peptides and intracellular deposits of tau
Fuso, Andrea, Martire, Sara
core  

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