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Research

SAMStat 2: quality control for next generation sequencing data

SAMStat is an efficient program to extract quality control metrics from fastq and SAM/BAM files. A distinguishing feature is that it displays sequence composition, base quality composition and mapping error profiles split by mapping quality. This allows users to rapidly identify reasons for poor mapping including the presence of untrimmed adapters or poor sequencing quality at individual read positions.

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Examining the relationship between maternal mental health-related hospital admissions and childhood developmental vulnerability at school entry in Canada and Australia

It is well established that maternal mental illness is associated with an increased risk of poor development for children. However, inconsistencies in findings regarding the nature of the difficulties children experience may be explained by methodological or geographical differences.

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Implementation of an Early Communication Intervention for Young Children with Cerebral Palsy Using Single-Subject Research Design

The implementation of an intervention protocol aimed at increasing vocal complexity in three pre-linguistic children with cerebral palsy (two males, starting age 15 months, and one female, starting age 16 months) was evaluated utilising a repeated ABA case series design. The study progressed until the children were 36 months of age. Weekly probes with trained and untrained items were administered across each of three intervention blocks.

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Phage Therapy as an Alternative Treatment Modality for Resistant Staphylococcus aureus Infections

The production and use of antibiotics increased significantly after the Second World War due to their effectiveness against bacterial infections. However, bacterial resistance also emerged and has now become an important global issue.

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Safety and immunogenicity of a primary series and booster dose of the meningococcal serogroup B-factor H binding protein vaccine (MenB-FHbp) in healthy children aged 1–9 years: two phase 2 randomised, controlled, observer-blinded studies

The meningococcal serogroup B-factor H binding protein vaccine (MenB-FHbp) is licensed for use in children aged 10 years or older for protection against invasive serogroup B meningococcal disease. Because young children are at increased risk of invasive meningococcal disease, MenB-FHbp clinical data in this population are needed.

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Questionnaires Measuring Physical Activity in Clinical Pediatric Populations: A Systematic Review

Regular physical activity (PA) is a cornerstone therapy for many childhood chronic health conditions, and questionnaires offer a simple method for monitoring PA and identifying children who do not meet clinical practice guidelines. The purpose of this systematic review is to determine which questionnaires are most efficacious for assessing PA in children with chronic health conditions.

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Immunisation

Immunisation is the most effective way of protecting your child against a range of serious illnesses, including measles, hepatitis B and whooping cough. All vaccines used in Australia undergo stringent testing and ongoing monitoring.

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Searching for Strep A in the clinical environment during a human challenge trial: a sub-study protocol

Streptococcus pyogenes (also known as group A Streptococcus , Strep A) is an obligate human pathogen with significant global morbidity and mortality. Transmission is believed to occur primarily between individuals via respiratory droplets, but knowledge about other potential sources of transmission via aerosols or the environment is limited. Such knowledge is required to design optimal interventions to control transmission, particularly in endemic settings.

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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Research

Airway management in neonates and infants: European Society of Anaesthesiology and Intensive Care and British Journal of Anaesthesia joint guidelines

Airway management is required during general anaesthesia and is essential for life-threatening conditions such as cardiopulmonary resuscitation. Evidence from recent trials indicates a high incidence of critical events during airway management, especially in neonates or infants. It is important to define the optimal techniques and strategies for airway management in these groups.