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Twenty-One Years and Still Going Strong: A Qualitative Study Exploring the Contribution of Young Adult, Adolescent, and Stakeholder Involvement to the Resilience

Adolescence is a period of rapid transformation when meeting targets for optimal diabetes care is often challenging due to competing life demands. For more than two decades a diabetes transition clinic in Sydney, Australia, has sustained positive outcomes and demonstrated aspects of resilience in the care of individuals living with type 1 diabetes (T1D) who have transitioned from paediatric to adult care. Many studies have focused on resilience in acute care setting showever, studies that examine the factors that support resilience in settings that care for individuals with long-term, chronic conditions such as T1D are lacking.

Evolution of islet autoantibodies in the Environmental Determinants of Islet Autoimmunity (ENDIA) prospective cohort

Islet autoantibodies herald early type 1 diabetes. However, less is known of the evolution of autoantibodies to the islet autoantigen ZnT8. Our primary aim was to characterise the development of islet autoantibodies in a pregnancy-birth at-risk cohort and to provide new knowledge about ZnT8A.

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and generalized arterial calcification of infancy (GACI) occur secondary to biallelic ectonucleotide pyrophosphate/phosphodiesterase 1 (ENPP1) loss-of-function pathogenic variants. GACI is a life-threatening condition, often presenting in the neonatal period with heart failure and hypertension, caused by calcification of the media in large- and medium-sized arteries.

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.

Outcomes and experiences of families with children with type 1 diabetes on insulin pumps through subsidised pump access programs in Western Australia

In Australia, access to insulin pump therapy for children with type 1 diabetes is predominantly restricted to families with private health insurance. In an attempt to improve equity, additional subsidised pathways exist which provide pumps to families with reduced financial resources. We aimed to describe the outcomes and experiences of families with children commenced on pumps through these subsidised pathways in Western Australia.

Continuous glucose monitoring has an increasing role in pre-symptomatic type 1 diabetes: Advantages, limitations, and comparisons with laboratory-based testing

Type 1 diabetes is well-recognised as a continuum heralded by the development of islet autoantibodies, progression to islet autoimmunity causing beta cell destruction, culminating in insulin deficiency and clinical disease. Abnormalities of glucose homeostasis are known to exist well before the onset of typical symptoms.

Hybrid Closed-Loop Versus Manual Insulin Delivery in Adults With Type 1 Diabetes: A Post Hoc Analysis Using the Glycemia Risk Index

Glycemia risk index (GRI) is a novel composite metric assessing overall glycemic risk, accounting for both hypoglycemia and hyperglycemia and weighted toward extremes. Data assessing GRI as an outcome measure in closed-loop studies and its relation with conventional key continuous glucose monitoring (CGM) metrics are limited.

Participant and caregiver perspectives on health feedback from a healthy lifestyle check

The usual output following health consultations from paediatric services is a clinical letter to the referring professional or primary care provider, with a copy sent to the patient's caregiver. There is little research on how patients and caregivers perceive the letter content.

Socioeconomic representativeness of Australian, Canadian and British cohorts from the paediatric diabetes AdDIT study: comparisons to regional and national data

Given limited data regarding the involvement of disadvantaged groups in paediatric diabetes clinical trials, this study aimed to evaluate the socioeconomic representativeness of participants recruited into a multinational clinical trial in relation to regional and national type 1 diabetes reference populations. 

Prevalence and characteristics of paediatric X-linked hypophosphataemia in Australia and New Zealand: Results from the Australian and the New Zealand Paediatric Surveillance Units survey

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.