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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

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

Australian 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

Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism

Hepatology, EarlyView., 2022
Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince +30 more
wiley +1 more source

Psychological and emotional profiles of Australian uterine transplant potential recipients: A comparison with international trials

Acta Obstetricia et Gynecologica Scandinavica
Introduction Uterus transplant (UTx) has emerged as a groundbreaking solution for individuals with uterine factor infertility (UFI). This study is the first in Australia to explore the psychosocial functioning of potential recipients assessed for the ...
Brigitte Gerstl +9 more
doaj +1 more source

A National Survey of Informal Supporters' Experiences and Views of Behaviour Support Practitioners in the National Disability Insurance Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study examines informal supporters' experiences and views of NDIS behaviour support practitioners, including engagement, information needed to support selection, and perceptions of practitioners' knowledge, skill, and practice. It reports data from a cross‐sectional online survey of 123 informal support providers of participants receiving
Alinka Fisher +7 more
wiley +1 more source

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Hepatology, EarlyView., 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel +93 more
wiley +1 more source

Women at Canossa. The role of royal and aristocratic women in the reconciliation between Pope Gregory VII and Henry IV of Germany

Storicamente, 2018
Modern historians rarely mention the presence of royal and aristocratic women at Canossa in January 1077. Yet contemporaries emphasised the important roles played by several women, including Matilda of Tuscany, Adelaide of Turin, Empress Agnes and Queen ...
Alison Creber
doaj +1 more source

Royal Commission into Family Violence: issues paper [PDF]

, 2015
The purpose of this issues paper is to provide general guidance to individuals and organisations in making written submissions to the Royal Commission into Family Violence. Introduction The Royal Commission into Family Violence (‘the Royal Commission’)
Royal Commission into Family Violence
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How Can Community Music Enhance Place‐Based Efforts to Create Greater Social Equity? Insights From an Australian Cultural Mapping Exercise

Australian Journal of Social Issues, EarlyView.
ABSTRACT Social inequity is increasing in Australia, often manifesting in entrenched locational disadvantage that requires place‐based responses grounded in local strengths, knowledge and participation. While community music programmes have demonstrated a range of positive social outcomes, their potential contribution to place‐based efforts addressing ...
Brydie‐Leigh Bartleet +6 more
wiley +1 more source

Blood Biomarkers of Alzheimer's Disease and Patterns of Structural Brain Changes in the Community

Annals of Neurology, EarlyView.
Objective We aimed to investigate the associations between Alzheimer's disease (AD)‐related blood biomarkers and changes in brain volumes and cerebrovascular burden in community‐dwelling older adults. Methods We included 361 dementia‐free participants with a Mini‐Mental State Examination (MMSE) score ≥ 27 and without prior cerebrovascular events from a
Martina Valletta +11 more
wiley +1 more source

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