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Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown.
Several studies have established that patients with localized perinatal neuroblastoma can be safely observed; however, long-term outcomes have not been previously reported. We evaluated long-term outcomes of infants with suspected perinatal neuroblastoma enrolled on the Children's Oncology Group ANBL00P2, which included an expectant observation approach.
Controlling the syphilis epidemic in Australia is a public health priority. Regular intramuscular (IM) injections of benzathine penicillin G (BPG) are the current standard of care for late latent syphilis in Australia; however, repeated IM BPG injections are painful, and treatment completion rates are low. Early-phase clinical trials have demonstrated the tolerability and safety of high-dose subcutaneous infusions of BPG (SCIP), where the total treatment dose can be delivered at a single visit. Here we describe the experiences and preferences of attendees of Western Australian sexual health clinics in the Perth metropolitan region who have syphilis and were treated with SCIP.
Historically, adolescent pregnancy has been conceptualized as an outcome of child marriage, but in Southeast Asia, the contexts and drivers of adolescent pregnancy are less well-understood. This study examines the relationship between adolescent pregnancy and child marriage and explores the drivers of pregnancy in Cambodia, Indonesia, Lao People's Democratic Republic and Malaysia among adolescents who have experienced pregnancy.
Burkholderia cepacia complex causes life-threatening respiratory infections. Here, a bacteriophage with activity against B. cenocepacia was isolated from wastewater. It has a genome size of 70,144 bp and has the taxonomic classification Irusalimvirus. It has no genes associated with lysogeny, bacterial resistance, or virulence.
Due to the ongoing impact of colonisation, Aboriginal and Torres Strait Islander people live with a greater burden of cardiovascular disease (CVD) than non-Indigenous Australians. Shared decision-making (SDM) is recognised as an essential component of person-centred care. However, there has been a lack of tools to support clinician communication and SDM to address CVD prevention in this important 'at-risk' population.
Background: Signs of clinical deterioration may appear differently in children with dark-coloured skin. How to assess children in this cohort is currently poorly defined. Aim: To explore available information on the assessment of clinical deterioration in children with dark-coloured skin and identify research deficits.
People with intellectual disability experience a greater risk of maltreatment than people without intellectual disability. Maltreatment by family members presents additional risks, including greater possibilities for concealment. This scoping reviewResults were summarized in both narrative and tabular formats summarizes extant knowledge about the familial maltreatment of people with intellectual disability and identifies gaps in the literature.
Japan recently experienced a record surge in streptococcal toxic shock syndrome. Our environmental surveillance study reveals that Streptococcus pyogenes persists seasonally, peaking in autumn and winter in rural Japan. The dominant emm1 M1UK sublineage and csrS mutations heighten virulence, highlighting the urgent need for targeted surveillance and interventions.
Monitoring the number of COVID-19 patients in hospital beds was a critical component of Australia's real-time surveillance strategy for the disease. From 2021 to 2023, we produced short-term forecasts of bed occupancy to support public health decision-making.