Skip to content
The Kids Research Institute Australia logo
Donate

Search

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.

Mapping breastfeeding and COVID-19 related content and engagement on Facebook: Results from an online social listening study

The COVID-19 pandemic has seen evidence and advice evolve quickly. Since the start of the pandemic there has been confusion and concern about breastfeeding and COVID-19, and advice for this group has at times been contradictory. The volume of information on social media has exacerbated this. This study aimed to understand breastfeeding-related COVID-19 information sharing on social media during the global and Australian vaccine roll-out.

Management of type 2 diabetes in young adults aged 18–30 years: ADS/ADEA/APEG consensus statement

Type 2 diabetes in young adults (nominally, 18–30 years of age) is a more aggressive condition than that seen in older age, with a greater risk of major morbidity and early mortality. This first Australian consensus statement on the management of type 2 diabetes in young adults considers areas where existing type 2 diabetes guidance, directed mainly towards older adults, may not be appropriate or relevant for the young adult population.

Driving with Type 1 Diabetes: Real-World Evidence to Support Starting Glucose Level and Frequency of Monitoring During Journeys

There is limited evidence supporting the recommendation that drivers with insulin-treated diabetes need to start journeys with glucose >90 mg/dL. Glucose levels of drivers with type 1 diabetes were monitored for 3 weeks using masked continuous glucose monitoring (CGM).

Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumab

X-linked hypophosphataemia (XLH), the most common inherited form of rickets, is caused by a PHEX gene mutation that leads to excessive serum levels of fibroblast growth factor 23 (FGF23). This leads to clinical manifestations such as rickets, osteomalacia, pain, lower limb deformity and overall diminished quality of life.

Ten year analysis of the clinic profile of the tertiary paediatric endocrine service in Western Australia

There is a paucity of information regarding the profile of entire paediatric endocrine clinics and how they are changing. This study aimed to analyse the clinic profile of the Western Australian tertiary paediatric endocrine outpatient service over 10 years and compare to national and international data.

End-user acceptability of personal protective equipment disinfection for potential reuse: a survey of health-care workers in Aotearoa New Zealand

The COVID-19 pandemic has highlighted personal protective equipment (PPE) supply, distribution, and disposal issues worldwide. Calls to conserve PPE stocks and increase supply resulted in the rapid development of potential disinfection methods, with the possibility of improvements in medical waste reduction. However, how receptive health-care workers are to PPE reuse remains unknown. We aimed to examine the views of health-care workers who used PPE during the first COVID-19 wave in Aotearoa New Zealand, in relation to acceptability of PPE disinfection and reuse.

Parental experiences of using continuous glucose monitoring in their young children with early-stage type 1 diabetes: a qualitative interview study

To explore parents' experiences of using continuous glucose monitoring in their young children with early-stage type 1 diabetes, being followed in the Australian Environmental Determinants of Islet Autoimmunity (ENDIA) study.

Benefits, implementation and sustainability of innovative paediatric models of care for children with type 1 diabetes: a systematic review

The evidence about the acceptability and effectiveness of innovative paediatric models of care for Type 1 diabetes is limited. To address this gap, we synthesised literature on implemented models of care, model components, outcomes, and determinants of implementation and sustainability.

Dietary patterns during pregnancy and maternal and birth outcomes in women with type 1 diabetes: the Environmental Determinants of Islet Autoimmunity (ENDIA) study

Dietary patterns characterised by high intakes of vegetables may lower the risk of pre-eclampsia and premature birth in the general population. The effect of dietary patterns in women with type 1 diabetes, who have an increased risk of complications in pregnancy, is not known.