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A 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to be heterozygous for the GNRH1 p.R31C mutation, reported in the literature as pathogenic and dominant. The same mutation was found in his son at birth, but the testing of the infant at 64 days confirmed the hormonal changes associated with minipuberty.
Mother-to-child transmission (MTCT) of hepatitis B virus (HBV) is a predominant route of infection for children in Ethiopia. No study has so far reported a nationwide estimate of the risk of MTCT of HBV. We conducted a meta-analysis of surveys and estimated the pooled risk of MTCT of HBV in the context of human immunodeficiency virus (HIV) infection.
Health-related behaviours contribute to the global burden of cardiovascular disease (CVD). Cardiovascular imaging can be used to screen asymptomatic individuals for increased risk of CVD to enable earlier interventions to promote health-related behaviours to prevent or reduce CVD risk.
Malaria is a deadly disease caused by Plasmodium spp. Several blood phenotypes have been associated with malarial resistance, which suggests a genetic component to immune protection.
X-linked hypophosphataemia (XLH) is the most common heritable form of rickets. Prevalence data varies across the literature between 1 in 20,000 and 1 in 200,000 per population.
Previous research has demonstrated wellbeing benefits for positive education programmes (PEPs) facilitated by clinicians or experts or outside the school context. The current study explored the effects of a Year 10 PEP led by teachers trained in positive education and embedded within the Australian secondary school context.
The global population has been severely affected by the coronavirus disease 2019 (COVID-19) pandemic, however, with older age identified as a risk factor, children have been underprioritized. This article discusses the factors contributing to the less severe response observed in children following infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), including, differing viral entry receptor expression and immune responses.
There is no known risk-free level of alcohol use in pregnancy. Despite this, many still believe that occasional drinking is safe. To-date, there is limited evidence of the influences on women's decisions about low to moderate alcohol use in pregnancy.
As families increase their use of mobile touch screen devices (smartphones and tablet computers), there is potential for this use to influence parent-child interactions required to form a secure attachment during infancy, and thus future child developmental outcomes. Thirty families of infants (aged 9-15 months) were interviewed to explore how parents and infants use these devices, and how device use influenced parents' thoughts, feelings and behaviours towards their infant and other family interactions.
We examine the H i gas kinematics of galaxy pairs in two clusters and a group using Australian Square Kilometre Array Pathfinder (ASKAP) WALLABY pilot survey observations. We compare the H i properties of galaxy pair candidates in the Hydra I and Norma clusters, and the NGC 4636 group, with those of non-paired control galaxies selected in the same fields.