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Real time monitoring of respiratory viral infections in cohort studies using a smartphone app

Cohort studies investigating respiratory disease pathogenesis aim to pair mechanistic investigations with longitudinal virus detection but are limited by the burden of methods tracking illness over time. In this study, we explored the utility of a purpose-built AERIAL TempTracker smartphone app to assess real-time data collection and adherence monitoring and overall burden to participants, while identifying symptomatic respiratory illnesses in two birth cohort studies.

Real world effectiveness of early ensitrelvir treatment in patients with SARS-CoV-2, a retrospective case series

Ensitrelvir, a 3C-like protease inhibitor, received emergency approval in Japan in November 2022 for treating non-hospitalized patients with mild-to-moderate COVID-19. However, confirmation of its real-world clinical effectiveness is limited.

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments.

Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome

Rett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.

Transmission potential of Streptococcus pyogenes during a controlled human infection trial of pharyngitis

Controlled human infection (CHI) models can provide insights into transmission of pathogens such as Streptococcus pyogenes (Strep A). As part of the Controlled Human Infection with Penicillin for Streptococcus pyogenes (CHIPS) trial, we explored the potential for transmission among participants deliberately infected with the Strep A emm75 strain.

Invasive Fungal Disease in Immunocompromised Children: Current and Emerging Therapies

In an era of expanding indications for iatrogenic immunosuppression, invasive fungal disease (IFD) remains a significant challenge in immunocompromised children, with case fatality rates ranging from 10 to 70%. Understanding of current recommendations and recent evidence is essential to guide optimal IFD management.

Effectiveness, efficacy, acceptability, and feasibility of trauma-informed depression, anxiety, and substance use prevention programs for young people aged 12–25 years

Mental ill-health and substance use bear significant public health burden on young people. Prevention is key. Trauma-informed approaches to prevention of mental ill-health and substance use demonstrate significant promise, yet it is unclear how well existing approaches work for young people targeting mental ill-health and substance use. This review aimed to assess the effectiveness, feasibility, and acceptability of trauma-informed mental ill-health and/or substance use prevention programs for young people.  

Responsive service design and workforce strengthening: Recommendations to improve aged care for Aboriginal and Torres Strait Islander peoples

This study aimed to develop innovative and practical strategies and recommendations for aged care policy and practice that support the needs of Aboriginal and Torres Strait Islander peoples.

Caudal block, high flow oxygen insufflation and dexmedetomidine sedation for inguinal hernia surgery in infants—A prospective evaluation of an alternative anesthesia technique

Inguinal hernia repair is the most common operation in infants, with well recognized anesthetic and perioperative risks. The aim was to investigate if the combination of caudal block, high-flow nasal oxygen insufflation and intravenous dexmedetomidine sedation is suitable for infants undergoing inguinal hernia surgery.

Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia

KMT2A-rearranged infant acute lymphoblastic leukemia (ALL) represents the most refractory type of childhood leukemia. To uncover the molecular heterogeneity of this disease, we perform RNA sequencing, methylation array analysis, whole exome and targeted deep sequencing on 84 infants with KMT2A-rearranged leukemia.