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Research

Connection to... Addressing Digital Inequities in Supporting the Well-Being of Young Indigenous Australians in the Wake of COVID-19

This article examines whether connection to digital technologies helps connect young Indigenous people in Australia to culture, community and country to support good mental health and well-being and protect against indirect and potentially long-term effects of COVID-19.

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Association between ABO, Rh blood groups, lip and dermatoglyphic patterns, and nonsyndromic oral clefts: A case-control study

The objective of the study is to determine the association between nonsyndromic oral clefts (OC) in children and ABO, Rh blood groups, lip, and dermatoglyphic patterns of their unaffected parents.

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Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs

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.

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Prevalence and risk factors of adverse birth outcomes in the Pacific Island region: a scoping review protocol

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.

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Efficacy and safety of influenza vaccination during pregnancy: realizing the potential of maternal influenza immunization

Pregnant women are at higher risk of severe complications following influenza infection compared to the general population. Influenza vaccination during pregnancy can offer direct protection to pregnant women and passive immunity to infants up to 6 months of age via maternal antibodies. Pregnant women are a high priority group for influenza immunization.

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Language and literacy in the context of early life adversity

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.

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Small-molecule screen reveals synergy of cell cycle checkpoint kinase inhibitors with DNA-damaging chemotherapies in medulloblastoma

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.

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Predictors of hospital readmission in infants less than 3 months old

To examine rates and predictors of 7-day readmission in infants hospitalised before 3 months of age with infectious and non-infectious conditions. A retrospective population-based data-linkage study of 121 854 infants from a 5-year metropolitan birth cohort (2008-2012). Cox proportional hazard models were used to examine associations between infant and maternal factors with 7-day readmission.

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The economic and health burdens of diseases caused by group A Streptococcus in New Zealand

In preparation for the future arrival of a group A Streptococcus (GAS) vaccine, this study estimated the economic and health burdens of GAS diseases in New Zealand. The annual incidence of GAS diseases was based on extrapolation of the average number of primary healthcare episodes managed each year in general practices (2014-2016) and on the average number of hospitalizations occurring each year (2005-2014). Disease incidence was multiplied by the average cost of diagnosing and managing an episode of disease at each level of care to estimate the annual economic burden.

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Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

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.