Peer review of rural and tertiary Queensland paediatric diabetes services: A pilot project from the National Health Service.

AIM: Peer review is one component of the improvement of diabetes care delivered by the National Health Service (NHS) in England and Wales. Queensland has a decentralised model of service provision with an established state diabetes network. METHODS: The NHS scheme was adapted for use in Australia, and seven trained reviewers were recruited to visit 14 'hub' centres, which in turn covered 29 'spoke' units delivering care to over 95% of all public patients <16 years old in the state. Details of control as measured by glycosylated haemoglobin (HbA1c), the rate of presentation of diabetic ketoacidosis (DKA), the use of state guidance and staffing levels were recorded. Thirteen minimum standards of care were used as a basis for assessment. A report for the use of each inspected unit was produced at the end of the process. RESULTS: Most units had not previously collected outcome data; 45% of new cases presented with DKA. The centre mean HbA1c was 9.1%, and only 21% of patients achieved the Australian recommended level of <7.5%. Only three centres met some of the internationally recommended staffing levels. Only two centres provided transitional care to adult services. Of 13 NHS minimum standards of care, a mean of 5 were achieved (range 1-8), a mean of 4.6 partially achieved (range 3-6) and a mean of 3.9 not achieved (range 0-9). The care for 68 patients with type 2 diabetes was particularly poor. CONCLUSIONS: Paediatric diabetes care in Queensland is suboptimal. Recommended remedial actions are suggested that may be applicable to other states.

NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.

Several recent reports have described a missense variant in the gene NR5A1 (c.274C>T; p.Arg92Trp) in a significant number of 46,XX ovotesticular or testicular disorders of sex development (DSDs) cases. The affected residue falls within the DNA-binding domain of the NR5A1 protein, however the exact mechanism by which it causes testicular development in 46,XX individuals remains unclear. We have screened a cohort of 26 patients with 46,XX (ovo)testicular DSD and identified three unrelated individuals with this NR5A1 variant (p.Arg92Trp), as well as one patient with a novel NR5A1 variant (c.779C>T; p.Ala260Val). We examined the functional effect of these changes, finding that while protein levels and localization were unaffected, variant NR5A1 proteins repress the WNT signaling pathway and have less ability to upregulate the anti-testis gene NR0B1. These findings highlight how NR5A1 variants impact ovarian differentiation across multiple pathways, resulting in a switch from ovarian to testis development in genetic females.

Diabetic ketoacidosis incidence in children at first presentation of type 1 diabetes at an Australian regional hospital: The effect of health professional education.

BACKGROUND: Diabetic ketoacidosis (DKA) is an acute life threatening, resource intensive preventable complication of type 1 diabetes which has major biopsychosocial effects on patients and families. Incidence of pediatric DKA has been studied nationally and internationally in metropolitan centers. This study analyzed the DKA incidence at first presentation of type 1 diabetes at Townsville Hospital, before and after an educational intervention. This is the first study of its kind in a regional center in Queensland, Australia. METHOD: The inclusion criteria consisted of children (0-18 years) diagnosed with type 1 diabetes from January, 2006 to December, 2016. Medical and laboratory patient data was retrospectively collected. Quantitative analysis was conducted using SPSS. Education sessions were delivered to health professionals by a pediatric endocrinologist during 2015 and 2016. DKA and its severity were defined by the International Society of Pediatric Diabetes 2014 Guidelines. RESULTS: In total, 106 patients met inclusion criteria. Average incidence of DKA at first presentation of type 1 diabetes was 48.10%. Pre- and post-intervention incidences were 54.90% and 25%, respectively (P = 0.01). DKA severity pre- and post-intervention were severe (48.88%, 33.33%), moderate (26.67%, 16.67%), and mild (24.44%, 50%), respectively (P = 0.53). CONCLUSIONS: DKA incidence at first presentation of type 1 diabetes prior to intervention, is higher than that reported by other studies in Australia: Brisbane (31.8%) and Sydney (37.7%). DKA incidence at first presentation of type 1 diabetes decreased significantly during the period of health professional education.