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Research

A potential response to the COVID-19 pandemic in sub-Saharan Africa (SSA) with long-term benefits is to provide electricity for medical equipment in rural health centers and communities. This study identifies a large gap in the electrification of healthcare facilities in SSA, and it shows that decentralized photovoltaic systems can offer a clean, reliable, quick, and cost-effective solution.

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To compare meal-time glycaemia in adults with type 1 diabetes mellitus managed with multiple daily injections vs. insulin pump therapy, using self-monitoring blood glucose, following diabetes education.

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There is increasing international interest in place-based approaches to improve early childhood development (ECD) outcomes. The available data and evidence are limited and precludes well informed policy and practice change. Developing the evidence-base for community-level effects on ECD is one way to facilitate more informed and targeted community action.

Research

Scars are maintained for life and increase in size during periods of growth such as puberty. Epigenetic changes in fibroblasts after injury may underpin the maintenance and growth of scars. In this study, we combined methylome and transcriptome data from normotrophic mature scar and contralateral uninjured normal skin fibroblasts to identify potential regulators of scar maintenance.

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There has been concerns about the increasing incidence of youth depression and anxiety, with school teachers seeking out ways to better equip youth with skills to help them deal with daily life. A resilience training programme for youth was implemented in one region of New Zealand.

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The goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, including international data sharing and biobanking.

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The aim of this study was to describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life.

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Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.

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The gut microbiome is a well-recognized modulator of host immunity, and its compositions differ between geographically separated human populations. Systemic innate immune responses to microbial derivatives also differ between geographically distinct human populations. However, the potential role of the microbiome in mediating geographically varied immune responses is unexplored. We here applied 16S amplicon sequencing to profile the stool microbiome and, in parallel, measured whole-blood innate immune cytokine responses to several pattern recognition receptor (PRR) agonists among 2-year-old children across biogeographically diverse settings. Microbiomes differed mainly between high- and low-resource environments and were not strongly associated with other demographic factors. We found strong correlations between responses to Toll-like receptor 2 (TLR2) and relative abundances of Bacteroides and Prevotella populations, shared among Canadian and Ecuadorean children.

Research

Infant acute lymphoblastic leukemia (ALL) is characterized by a high incidence of KMT2A gene rearrangements and poor outcome. We evaluated the value of minimal residual disease (MRD) in infants with KMT2A-rearranged ALL treated within the Interfant-06 protocol, which compared lymphoid-style consolidation (protocol IB) versus myeloid-style consolidation (araC, daunorubicin, etoposide/mitoxantrone, araC, etoposide).