Results 41 to 50 of about 5,130,235 (318)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

‘Hurry Up and Get Me out of Here’: The Experience of People Under 65 Years (Still) Stuck in Aged Care

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Following the Royal Commission into Aged Care Quality and Safety, the Australian Government set a target for no‐one under 65 years of age to be living in residential aged care (RAC) by 2025. The numbers of young people in residential aged care (YPIRAC) have significantly declined since the start of the targets.
Elroy Dearn   +4 more
wiley   +1 more source

Understanding Inequality Within a Personalised System of Disability Support: Australian Children With Disabilities' Unmet Support Needs

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Disability support has shifted towards models of personalised care, which critics argue may contribute to increased inequalities. There is limited systematic evidence investigating inequalities in support among children with disabilities. To investigate inequalities in support, a survey of parents of children with disabilities aged 2–17 was ...
Martin O'Flaherty   +2 more
wiley   +1 more source

Implementing an Indigenous Research Methodology to Develop a Culturally Appropriate Survey and Yarning Protocol: Challenges With Retention of the Aboriginal Health, Ageing and Disability Workforce

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal staff play a vital part in improving culturally safe and effective services and supports for Aboriginal people. Research on the Aboriginal workforce helps advance a culturally safe environment for workers and Aboriginal people accessing health and community services. This study aims to identify the barriers and enablers to workforce
F. Talbot   +10 more
wiley   +1 more source

Narrowing the Gap: An Implementation Science Research Agenda for the Occupational Therapy Profession.

open access: yesAmerican Journal of Occupational Therapy, 2019
Despite advancements in occupational therapy research, the widespread research-to-practice gap continues to delay how quickly evidence-based practices are implemented in real-world clinical settings. Implementing research in practice is a complex process
Lisa A. Juckett   +2 more
semanticscholar   +1 more source

‘Giving Back to Our Community’: The Retention of the Aboriginal and Torres Strait Islander Disability Workforce in New South Wales, Australia

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The Aboriginal and Torres Strait Islander people of Australia require culturally responsive services. The Australian government has committed to establishing strategies to increase the size of the Aboriginal and Torres Strait Islander disability workforce; however, there is scant research on the factors influencing retention.
J. Gwynn   +9 more
wiley   +1 more source

Noninvasive tests for nonalcoholic fatty liver disease in a multi‐ethnic population: The HELIUS study

open access: yesHepatology Communications, EarlyView., 2022
Abstract Nonalcoholic fatty liver disease (NAFLD) is increasing in prevalence and severity globally, prompting noninvasive testing, yet limited data exist on noninvasive liver tests (NITs) including transient elastography (TE) in ethnically diverse populations.
Anne‐Marieke van Dijk   +6 more
wiley   +1 more source

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