American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
Medical Spanish Graphic Activity: A MeGA Deliberate Practice Approach to Reducing Jargon Use With Spanish-Speaking Acute Care Patients. [PDF]
MedEdPORTALOrtega P, Cisneros R, Park YS.
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge +9 more
wiley +1 more source
Trauma‐Informed Practice in Welfare‐to‐Work and Employment Services: A Scoping Review
Australian Journal of Social Issues, EarlyView.ABSTRACT There is increasing recognition within welfare services, including employment services, that many participants may have histories of trauma. Research suggests that experiences of trauma not only impact individuals' psychosocial health but also vocational elements such as job performance, employability, career progression, and financial ...
Emily Corbett +3 more
wiley +1 more source
"We speak a topsy-turvy language": Self-declared language purism versus language use among the speakers of Western Huasteca Nahuatl. [PDF]
Int J Soc LangDexter-Sobkowiak E, Dexter-Sobkowiak P.
europepmc +1 more source
The Insistence of Blackness and the Persistence of Antiblackness in Ireland
Australian Journal of Social Issues, EarlyView.ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley +1 more source
Internal Communication and Dissemination Strategies During Magnet Implementation in German Hospitals: A Qualitative Study. [PDF]
J Nurs ManagKleine J +4 more
europepmc +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley +1 more source
CONSTIPATION SCORING SYSTEM VALIDATED FOR THE PORTUGUESE LANGUAGE (ÍNDICE DE GRAVIDADE DA CONSTIPAÇÃO INTESTINAL): IS IT RELIABLE IN ASSESSING THE SEVERITY OF INTESTINAL CHRONIC CONSTIPATION IN OUR POPULATION? [PDF]
Arq Bras Cir DigFroehner Junior I +4 more
europepmc +1 more source