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Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants

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.

Safety, tolerability, and immunogenicity of V114 pneumococcal vaccine compared with PCV13 in a 2+1 regimen in healthy infants: A phase III study (PNEU-PED-EU-2)

This phase III study evaluated safety, tolerability, and immunogenicity of V114 (15-valent pneumococcal conjugate vaccine) in healthy infants. V114 contains all 13 serotypes in PCV13 and additional serotypes 22F and 33F.

“It helps and it doesn’t help”: maternal perspectives on how the use of smartphones and tablet computers influences parent-infant attachment

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.

Interactions between the lipidome and genetic and environmental factors in autism

Autism omics research has historically been reductionist and diagnosis centric, with little attention paid to common co-occurring conditions (for example, sleep and feeding disorders) and the complex interplay between molecular profiles and neurodevelopment, genetics, environmental factors and health. Here we explored the plasma lipidome in 765 children (485 diagnosed with autism spectrum disorder (ASD)) within the Australian Autism Biobank.

The Challenge of Diagnosing Invasive Pulmonary Aspergillosis in Children: A Review of Existing and Emerging Tools

Invasive pulmonary aspergillosis remains a major cause of morbidity and mortality for immunocompromised children, particularly for patients with acute leukaemia and those undergoing haematopoietic stem cell transplantation. Timely diagnosis, using a combination of computed tomography (CT) imaging and microbiological testing, is key to improve prognosis, yet there are inherent challenges in this process. For CT imaging, changes in children are generally less specific than those reported in adults and recent data are limited.

The Founder - Dispositional Greed, Showbiz, and the Commercial Determinants of Health

Marketing unhealthy products by multinational corporations has caused considerable harm to individual health, collective wellbeing, and environmental sustainability. This is a growing threat to all societies and a significant contributor to the rising global burden of non-communicable diseases and early mortality.

Normal values of respiratory oscillometry in South African children and adolescents

Noninvasive measurement of respiratory impedance by oscillometry can be used in young children aged from 3 years and those unable to perform forced respiratory manoeuvres. It can discriminate between healthy children and those with respiratory disease. However, its clinical application is limited by the lack of reference data for African paediatric populations. The aim of the present study was to develop reference equations for oscillometry outcomes in South African children and adolescents.

Factors influencing scar formation following Bacille Calmette-Guérin (BCG) vaccination

The prevalence of scar formation following Bacille Calmette-Guérin (BCG) vaccination varies globally. The beneficial off-target effects of BCG are proposed to be stronger amongst children who develop a BCG scar. Within an international randomised trial ('BCG vaccination to reduce the impact of coronavirus disease 2019 (COVID-19) in healthcare workers'; BRACE Trial), this nested prospective cohort study assessed the prevalence of and factors influencing scar formation, as well as participant perception of BCG scarring 12 months following vaccination.

Structured exercise programs for higher education students experiencing mental health challenges: background, significance, and implementation

The incidence of mental illness is greatest among young adults, and those enrolled in higher education may be particularly vulnerable compared to the general young adult population. Many higher education institutions employ student support staff tasked with implementing strategies to improve student wellbeing and mental illness.

Statistical modeling based on structured surveys of Australian native possum excreta harboring Mycobacterium ulcerans predicts Buruli ulcer occurrence in humans

Buruli ulcer (BU) is a neglected tropical disease caused by infection of subcutaneous tissue with Mycobacterium ulcerans. BU is commonly reported across rural regions of Central and West Africa but has been increasing dramatically in temperate southeast Australia around the major metropolitan city of Melbourne, with most disease transmission occurring in the summer months.