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Research

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.

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Many people with tuberculosis (TB) rely solely on traditional healthcare services. Integrating traditional healthcare with modern healthcare services can increase access, quality, continuity, consumer satisfaction, and efficiency. However, successful integration of traditional healthcare with modern healthcare services requires stakeholder acceptance.

Research

The gut microbiome plays a significant role in regulating the host’s ability to store fat, which impacts the development of obesity. This observational cohort study recruited obese adult men and women scheduled to undergo sleeve gastrectomy and followed up with them 6 months post-surgery to analyse their microbial taxonomic profiles and associated metabolites in comparison to a healthy control group.

Research

Clinical management of breast cancer (BC) metastasis remains an unmet need as it accounts for 90% of BC-associated mortality. Although the luminal subtype, which represents >70% of BC cases, is generally associated with a favorable outcome, it is susceptible to metastatic relapse as late as 15 years after treatment discontinuation.

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The transition to motherhood can be challenging, especially for first-time mothers, and can accompany maternal distress. Social support—such as that offered by peers—can be important in assisting mothers to manage such distress.

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To address climate change concerns, and reduce the carbon footprint caused by fossil fuel use, it is likely that blend ratios of renewable biodiesel with commercial mineral diesel fuel will steadily increase, resulting in biodiesel use becoming more widespread.

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This study systematically reviewed Australian literature to determine if an association exists between geospatial exposure to food outlets and diet, health or weight status. Recommendations for future research are provided.

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Childhood obesity and physical inactivity are two of the most significant modifiable risk factors for the prevention of non-communicable diseases. Yet, a third of children in Wales and Australia are overweight or obese, and only 20% of UK and Australian children are sufficiently active.

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Multiple sclerosis is associated with Epstein–Barr virus (EBV) infection, B-cell dysfunction, gut dysbiosis, and environmental and genetic risk factors, including female sex.

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Culturally and Linguistically Diverse (CALD) groups within high-income countries are at risk of being left behind by the COVID-19 vaccination rollout. They face both access and attitudinal barriers, including low trust in government and health authorities.