Results 151 to 160 of about 157,424 (307)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden   +2 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Adults With Intellectual Disability Moving out of the Family Home Using the National Disability Insurance Scheme: Family Members' Planning Experiences

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT For adults with intellectual disability and their families, future planning and moving out of the family home in Australia will increasingly occur within the context of the National Disability Insurance Scheme (NDIS). As a market‐based, individualised funding system its impact on this transition remains largely unknown. This paper reports on a
I. Belperio   +5 more
wiley   +1 more source

Olfactory Bulb Volume Reflects Olfactory Dysfunction and Network Organization: Insights From the Population‐Based Rhineland Study

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction is common in aging and an early symptom of neurodegenerative diseases, but how structural (olfactory bulb [OB] volume) and functional (olfactory network [OFN] functional connectivity [FC]) brain features interact to shape odor identification ability remains unclear.
Weiyi Zeng   +4 more
wiley   +1 more source

CASE REPORT : OSTEOARTHRITIS

open access: yese-Jurnal Medika Udayana, 2014
Osteoarthritis is a degenerative joint disease in which the affected joint is usually the largejoint and unilateral. Prevalence of osteoarthritis in Indonesia, 15.5% in men and 12.7% inwomen, where the incidence is increasing with age.
Putu Imayati, Gede Kambayana
doaj  

Equine models in translational medicine: A comparative approach to human health

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh   +1 more
wiley   +1 more source

Serum p‐tau217 Is a Prognostic Indicator of Cognitive Impairment in Idiopathic REM Sleep Behavior Disorder

open access: yesAnnals of Neurology, EarlyView.
Objective Assess the performance of serum phosphorylated tau 217 (p‐tau217) and neurofilament light chain (NfL) in predicting risk of cognitive impairment or phenoconversion to dementia in individuals with iRBD. Methods We measured serum p‐tau217 and NfL levels by electrochemiluminescence across 4 polysomnographically confirmed iRBD cohorts (n = 300 ...
Shijun Yan   +7 more
wiley   +1 more source

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