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Research

Effect of Enteral Vitamin A on Fecal Calprotectin in Extremely Preterm Infants: A Nested Prospective Observational Study

Vitamin A has anti-inflammatory and immune-modulating properties. We aimed to assess whether enteral water-soluble vitamin A supplementation in extremely preterm infants decreases fecal calprotectin, a marker of intestinal inflammation.

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Child maltreatment data: A summary of progress, prospects and challenges

In 1996, the ISPCAN Working Group on Child Maltreatment Data (ISPCAN-WGCMD) was established to provide an international forum in which individuals, who deal with child maltreatment data in their respective professional roles, can share concerns and solutions.

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Tuberculosis related disability: a systematic review and meta-analysis

The sustainable development goals aim to improve health for all by 2030. They incorporate ambitious goals regarding tuberculosis (TB), which may be a significant cause of disability, yet to be quantified. Therefore, we aimed to quantify the prevalence and types of TB-related disabilities.

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Demographic and clinical characteristics of a population-based pediatric cohort of type 1 and type 2 diabetes in Western Australia (1999-2019)

To determine demographic and clinical characteristics of youth diagnosed with Type 1 (T1D) or Type 2 (T2D) diabetes aged

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The economic and health burdens of diseases caused by group A Streptococcus in New Zealand

In preparation for the future arrival of a group A Streptococcus (GAS) vaccine, this study estimated the economic and health burdens of GAS diseases in New Zealand. The annual incidence of GAS diseases was based on extrapolation of the average number of primary healthcare episodes managed each year in general practices (2014-2016) and on the average number of hospitalizations occurring each year (2005-2014). Disease incidence was multiplied by the average cost of diagnosing and managing an episode of disease at each level of care to estimate the annual economic burden.

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Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.

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Lung abnormalities do not influence aerobic capacity in school children born preterm

Children born preterm have impaired lung function and altered lung structure. However, there are conflicting reports on how preterm birth impacts aerobic exercise capacity in childhood. We aimed to investigate how neonatal history and a diagnosis of bronchopulmonary dysplasia (BPD) impact the relationship between function and structure of the lung, and aerobic capacity in school-aged children born very preterm.

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Mental health difficulties among trans and gender diverse young people with an autism spectrum disorder (ASD): Findings from Trans Pathways

Recent research highlights an overlap of gender diversity and autism spectrum disorders (ASD); however, data on individuals who are trans and also on the autism spectrum are largely from clinical samples and may not be representative of individuals who are trans with ASD in the general population. In addition, there is scant literature on the mental health of these individuals and their experiences in accessing gender-affirming care.

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Who's declining the "free lunch"? New evidence from the uptake of public child dental benefits

This study provides the first evidence on the determinants of uptake of two recent public dental benefit programs for Australian children and adolescents from disadvantaged families. Using longitudinal data from a nationally representative survey linked to administrative data with accurate information on eligibility and uptake, we find that only a third of all eligible families actually claim their benefits.

Research

Investigating Mitochondrial Transcriptomes and RNA Processing Using Circular RNA Sequencing

Transcriptomic technologies have revolutionized the study of gene expression and RNA biology. Different RNA sequencing methods enable the analyses of diverse species of transcripts, including their abundance, processing, stability, and other specific features. Mitochondrial transcriptomics has benefited from these technologies that have revealed the surprising complexity of its RNAs. Here we describe a method based upon cyclization of mitochondrial RNAs and next generation sequencing to analyze the steady-state levels and sizes of mitochondrial RNAs, their degradation products, as well as their processing intermediates by capturing both 5' and 3' ends of transcripts.