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Esophageal atresia (EA) affects around 2.3-2.6 per 10,000 births world-wide. Infants born with this condition require surgical correction soon after birth. Most survival studies of infants with EA are locally or regionally based. We aimed to describe survival across multiple world regions. We included infants diagnosed with EA between 1980 and 2015 from 24 birth defects surveillance programs that are members of the International Clearinghouse for Birth Defects Surveillance and Research.

Research

Fetal growth restriction, preterm birth, low birth weight and stillbirth are adverse birth outcomes that are prevalent in low-income and middle-income settings such as the Pacific Island region. It is widely accepted that the excess burden of adverse birth outcomes is attributable to socioeconomic and environmental factors that predispose families to excess risk. Our review seeks to determine the prevalence of adverse birth outcomes in the Pacific Island region and to identify the risk factors of adverse birth outcomes in the Pacific Island region.

Research

This chapter considers the role of different forms of psychosocial adversity as risk factors for compromised language and literacy development in childhood and adolescence. Language skills play a central role in the development of prosocial interpersonal skills as well as promoting academic success through the transition to literacy.

Research

Medulloblastoma (MB) consists of four core molecular subgroups with distinct clinical features and prognoses. Treatment consists of surgery, followed by radiotherapy and cytotoxic chemotherapy. Despite this intensive approach, outcome remains dismal for patients with certain subtypes of MB, namely, MYC-amplified Group 3 and TP53-mutated SHH. Using high-throughput assays, six human MB cell lines were screened against a library of 3208 unique compounds. We identified 45 effective compounds from the screen and found that cell cycle checkpoint kinase (CHK1/2) inhibition synergistically enhanced the cytotoxic activity of clinically used chemotherapeutics cyclophosphamide, cisplatin, and gemcitabine.

Research

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.

Research

Pet ownership brings many health benefits to individuals. In children developmental benefits can extend to improved self-esteem, better social competence and decreased loneliness. The majority of households with children own a dog, however only a small proportion of children gain the benefits of dog ownership through dog walking and play. There are few intervention studies investigating the impact of dog-facilitated physical activity in children. The PLAYCE PAWS study aims to test a minimal-contact intervention through the use of mobile health ("mhealth") strategies, i.e. text (SMS) messages, to parents to encourage their children to walk and play with their dog more, and evaluate the impact on children's overall physical activity and development.

Research

Transcriptomic technologies have revolutionized the study of gene expression and RNA biology. Different RNA sequencing methods enable the analyses of diverse species of transcripts, including their abundance, processing, stability, and other specific features. Mitochondrial transcriptomics has benefited from these technologies that have revealed the surprising complexity of its RNAs. Here we describe a method based upon cyclization of mitochondrial RNAs and next generation sequencing to analyze the steady-state levels and sizes of mitochondrial RNAs, their degradation products, as well as their processing intermediates by capturing both 5' and 3' ends of transcripts.

Research

Migrant status is one of the most replicated and robust risk factors for developing a psychotic disorder. This study aimed to determine whether migrant status in people identified as Ultra-High Risk for Psychosis (UHR) was associated with risk of transitioning to a full-threshold psychotic disorder. Hazard ratios for the risk of transition were calculated from five large UHR cohorts (n = 2166) and were used to conduct a meta-analysis using the generic inverse-variance method using a random-effects model.

Research

Aboriginal and Torres Strait Islander people continue to experience health inequity within the Australian health care system. Little research has examined how disparities in surgical care access and outcomes contribute to Aboriginal health. In this narrative review and call to action, we discuss five care points along the journey to high-quality surgical care: health care seeking, primary health care services, specialist services, surgery and surgical outcomes.

Research

Vulvodynia and pudendal neuralgia comprise significant contributors to vulvar-related pain and its impact on daily life. A retrospective clinical audit was conducted at the Women's Health & Research Institute of Australia, Sydney, to determine the pattern of use and the efficacy of the application of topical amitriptyline 0.5% plus oestriol 0.03% in organogel (AOO), to the vulvar vestibule in reducing the impact of pain on daily life.