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Research

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L

Research

Epigenome-wide meta-analysis of DNA methylation and childhood asthma

Novel loci differentially methylated in newborns represent potential biomarkers of risk of asthma by school age

Research

Evening and night work schedules and children's social and emotional well-being

The findings show that both mothers’ and fathers’ evening and night work schedules are linked to an increase in children's externalizing and internalizing behavior

Research

Global Burden of Cardiovascular Diseases and Risk Factors, 1990-2019: Update From the GBD 2019 Study

Cardiovascular diseases (CVDs), principally ischemic heart disease (IHD) and stroke, are the leading cause of global mortality and a major contributor to disability. This paper reviews the magnitude of total CVD burden, including 13 underlying causes of cardiovascular death and 9 related risk factors, using estimates from the Global Burden of Disease (GBD) Study 2019. GBD, an ongoing multinational collaboration to provide comparable and consistent estimates of population health over time, used all available population-level data sources on incidence, prevalence, case fatality, mortality, and health risks to produce estimates for 204 countries and territories from 1990 to 2019.

Research

Genome-wide association meta-analysis of single-nucleotide polymorphisms and symptomatic venous thromboembolism during therapy for ALL and lymphoma in caucasian children

The largest GWAS meta-analysis conducted to date associating SNPs to venous thromboembolism in children and adolescents treated on childhood ALL protocols

Research

The non-specific and sex-differential effects of vaccines

The textbook view of vaccination is that it functions to induce immune memory of the specific pathogen components of the vaccine, leading to a quantitatively and qualitatively better response if the host is exposed to infection with the same pathogen

Research

Re-engaging an inactive cohort of young adults: Evaluating recruitment for the Kidskin Young Adult Myopia Study

We evaluate our ability to recruit participants for the Kidskin Young Adult Myopia Study, a follow-up of the Kidskin Study

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Vaccination strategies to enhance immunity in neonates

Protection may be further improved by integrating these approaches, namely vaccinating the neonate under the cover of vertically transferred maternal immunity