The Natural History of Symptomatic Fractures in Children and Adolescents with Osteogenesis Imperfecta Type 1: A Cohort Study from Western Australia.

The fracture experience of children and adolescents with osteogenesis imperfecta (OI) type 1 is not well described in the literature. We present data on symptomatic long bones and axial skeleton fractures of all patients aged 0 to 18 years with OI type 1 seen at a specialized bone clinic in Western Australia in the period 2008 to 2020 using a retrospective chart review method. The cohort consisted of 44 patients (21 males, 23 females).

Role of HLA-DQ typing and anti-tissue transglutaminase antibody titers in diagnosing celiac disease without duodenal biopsy in type 1 diabetes: A study of the population-based pediatric type 1 diabetes cohort of Western Australia.

Aim: The primary aim of the present study was to determine if it is cost effective to use human leukocyte antigen (HLA) typing as a first-line screening test for celiac disease (CD) in children with type 1 diabetes (T1D), as recommended by the European Society of Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN). The second aim was to investigate whether anti-tissue transglutaminase IgA (anti-tTGA) antibodies can be used to diagnose CD without the need for a confirmatory duodenal biopsy in T1D.

Methods: Data for all T1D patients aged <18 years, who attended the diabetes clinics in Western Australia up to June 2017, were extracted from the Western Australian Children's Diabetes Database (WACDD) and analyzed for their demographic data and CD permissive HLA alleles (DQ2, DQ8, and DQ7).

A novel, homozygous mutation in () in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report.

Background: () mutations have been described in only a limited number of individuals with 46, XY disorders of sex development (DSD) presenting as either partial or complete gonadal dysgenesis. Gonadal tumours and peripheral neuropathy have been associated with mutations. Herein we report a novel, homozygous mutation of identified through a targeted, massively parallel sequencing (MPS) DSD panel, in a patient presenting with partial gonadal dysgenesis.

Comparable glycemic outcomes for pediatric type 1 diabetes patients in metropolitan and non-metropolitan regions of Western Australia: A population-based study.

Background: Pediatric patients diagnosed with type 1 diabetes (T1D) in Western Australia (WA) are managed by a single, specialist multidisciplinary diabetes service based at a central tertiary hospital in the capital city, Perth, which provides outreach care in regional centers.

Objective: To investigate the hypothesis that outcomes for a contemporary, population-based pediatric T1D cohort, managed by a single tertiary service are similar for metropolitan and non-metropolitan patients using this model of care. To confirm that the cohort is indeed population based, a secondary aim of the study was to determine the case ascertainment of the Western Australian Children's Diabetes Database (WACDD).