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Reports and Findings

Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Our findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling

Allergy alerts — The incidence of parentally reported allergies in children presenting for general anesthesia

Only the minority of parent-reported allergies in pediatric surgical patients were specialist confirmed and likely to be clinically relevant

Prediction modelling using routine clinical parameters to stratify survival in Malignant Pleural Mesothelioma patients undergoing cytoreductive surgery

The CART model was able to stratify surgical patients into risk groups with statistically different survival characteristics with fair to good performance

Challenges in Accurately Assessing Prenatal Alcohol Exposure in a Study of Fetal Alcohol Spectrum Disorder in a Youth Detention Center

Accurately assessing prenatal alcohol consumption is exceptionally challenging when assessed retrospectively as part of a FASD assessment for a young person sentenced to detention

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

This is the first comprehensive study of maturity-onset diabetes of the young variants in an unselected population-based pediatric diabetes cohort

Vitamin D C3-epimer levels are proportionally higher with oral vitamin D supplementation compared to ultraviolet irradiation of skin in mice but not humans

The proportion of 25(OH)D3 that undergoes epimerization is greater with oral vitamin D3 supplementation than exposure to UVR in mice, but not in humans

Apgar score and risk of autism

This study suggests that low Apgar score is associated with higher risk of autism spectrum disorder, and in particular autistic disorder

The Global Lung Function Initiative (GLI) Network ERS Clinical Research Collaboration: how international collaboration can shape clinical practice

The Global Lung Function Initiative is working to improve the interpretation of lung function: an update on current work and the opportunities for further engagement

Intra-breath measures of respiratory mechanics in healthy African infants detect risk of respiratory illness in early life

Intra-breath forced oscillation technique can identify healthy infants at risk of developing LRTI, wheezing or severe illness in the first year of life

Pcv7-and pcv10-vaccinated otitis-prone children in new zealand have similar pneumococcal and haemophilus influenzae densities in their nasopharynx and middle ear

PCV10 did not reduce NTHi density in the nasopharynx or middle ear, and was associated with increased pneumococcal nasopharyngeal density