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Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two familiesWe report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post-mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures.
WAACHS was the largest and most comprehensive survey ever undertaken into the health, wellbeing & development of WA Aboriginal and Torres Strait Islander kids
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“I just don’t know enough”: Australian perspectives on community involvement in health and medical researchThere is increasing global support from governments and other funding bodies for community involvement in research, alongside a scientific and moral imperative for responsible and ethical research practice. Ninety per cent of Australian patient-led organisations in rare diseases have clearly articulated research priorities, indicating a desire among people affected by disease to be involved in research that impacts their communities.
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Is immunisation education in midwifery degrees adequate?Midwifery university education is an important arena for developing future vaccine advocates
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Tumor penetrating peptides inhibiting MYC as a potent targeted therapeutic strategy for triple-negative breast cancersWe demonstrated the efficacy of FPPa-OmoMYC in inhibiting breast cancer growth when injected orthotopically in TNBC allografts
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Screening for HIV-Associated Neurocognitive Impairment: Relevance of Psychological Factors and Era of Commencement of Antiretroviral TherapyFindings of the Montreal Cognitive Assessment were not confounded by existing mood disorders, unlike the 3-item questionnaire
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Global distribution of human hookworm species and differences in their morbidity effects: a systematic reviewThe global distribution and morbidity effects for each specific hookworm species is unknown, which prevents implementation of the optimum intervention for local hookworm control.
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ISPAD Clinical Practice Consensus Guidelines 2022: Assessment and management of hypoglycemia in children and adolescents with diabetesTim Jones MBBS DCH FRACP MD Co-head, Diabetes and Obesity Research Co-head, Diabetes and Obesity Research Areas of research expertise: Diabetes
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Lessons from 50 years of curing childhood leukaemiaOne of the great success stories of modern medicine is undoubtedly the remarkable improvement in outcome for childhood cancer, achieved through the work of...
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Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care servicesThis study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem