Results 151 to 160 of about 6,158,274 (301)
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh +5 more
wiley +1 more source
Stakeholder Perspectives on Therapeutic and Safe Building Design in Residential Care
Australian Journal of Social Issues, EarlyView.ABSTRACT Residential care is a form of out‐of‐home care that plays a critical role in supporting vulnerable young people in Australia. However, there is an evidence gap regarding the built environment in this context. This research aimed to explore the perspectives of key stakeholders in residential care in Victoria, Australia, regarding design that ...
Carmen Schroder +3 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Positive Behaviour Support (PBS) is the National Disability Insurance Scheme (NDIS) endorsed‐behavioural intervention framework. Understanding how and why PBS is effective is critical, given the increasing number of autistic children accessing the NDIS.
Cameron Stott +4 more
wiley +1 more source
Pragmatic Clinical Trials—Ready for Prime Time? [PDF]
JAMA Network Open, 2021 Mahmoud, Al Rifai +2 more
openaire +2 more sources
Australian Journal of Social Issues, EarlyView.ABSTRACT Generative Artificial Intelligence (GenAI) tools such as ChatGPT are rapidly entering workplaces, yet their use in frontline human services remains largely undocumented and weakly regulated. Drawing on an investigation into a child protection worker's informal use of ChatGPT, this article provides insight into how GenAI is already shaping ...
Joel Robert McGregor +3 more
wiley +1 more source
Why is conducting pragmatic clinical trials so important? [PDF]
Jornal Brasileiro de Pneumologia, 2022 Ignacio Esteban +2 more
doaj +1 more source
Advancing Understanding of Subjective Liveability for People With Disability
Australian Journal of Social Issues, EarlyView.ABSTRACT Modern liveability frameworks aim to enhance health and well‐being through equity‐based measures across built, natural, social, and economic environments, yet they often overlook the perspectives of people with disability. This study explored expectations of liveable neighbourhoods among adults with diverse disability experiences in urban and ...
Maria Hobbs +3 more
wiley +1 more source
Irregular assessment times in pragmatic randomized clinical trials
TrialsDeviation from protocolized assessment times is commonplace in pragmatic randomized clinical trials. Working with a stakeholder advisory board for a Patient-Centered Outcomes Research Institute®-funded project on statistical methods for handling ...
Andrea Apter +11 more
doaj +1 more source
Trends in Pragmatic Clinical Trials [PDF]
Value in Health, 2017 K Kloc +4 more
openaire +1 more source