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Research

Reflections on How Tinnitus Impacts the Lives of Children and Adolescents

The aim of this study was to generate a conceptual framework describing which aspects of children and adolescents' lives are affected by chronic tinnitus.

Research

Advancing our understanding of psychological flow: A scoping review of conceptualizations, measurements, and applications

Research on psychological flow is well established, although criticisms remain regarding conceptual and measurement issues associated with the construct. This scoping review maps flow-related research across scientific disciplines, examining the conceptualization, measurement instruments, and outcomes of flow between 2012 and 2019. Across 236 sources that met the review criteria, 108 different flow-related constructs were measured by 141 instruments, and 84 possible antecedents were identified.

Research

Meal-time glycaemia in adults with type 1 diabetes using multiple daily injections vs insulin pump therapy following carbohydrate-counting education and bolus calculator provision

To compare meal-time glycaemia in adults with type 1 diabetes mellitus managed with multiple daily injections vs. insulin pump therapy, using self-monitoring blood glucose, following diabetes education.

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Findings from the Kids in Communities Study (KiCS): A mixed methods study examining community-level influences on early childhood development

There is increasing international interest in place-based approaches to improve early childhood development (ECD) outcomes. The available data and evidence are limited and precludes well informed policy and practice change. Developing the evidence-base for community-level effects on ECD is one way to facilitate more informed and targeted community action.

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People with Cerebral Palsy and Their Family's Preferences about Genomics Research

The goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, including international data sharing and biobanking.

Research

Microcephaly in Australian infants: A retrospective audit

The aim of this study was to describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life.

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A flexible computational pipeline for research analyses of unsolved clinical exome cases

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.

Research

Biogeography of the Relationship between the Child Gut Microbiome and Innate Immune System

The gut microbiome is a well-recognized modulator of host immunity, and its compositions differ between geographically separated human populations. Systemic innate immune responses to microbial derivatives also differ between geographically distinct human populations. However, the potential role of the microbiome in mediating geographically varied immune responses is unexplored. We here applied 16S amplicon sequencing to profile the stool microbiome and, in parallel, measured whole-blood innate immune cytokine responses to several pattern recognition receptor (PRR) agonists among 2-year-old children across biogeographically diverse settings. Microbiomes differed mainly between high- and low-resource environments and were not strongly associated with other demographic factors. We found strong correlations between responses to Toll-like receptor 2 (TLR2) and relative abundances of Bacteroides and Prevotella populations, shared among Canadian and Ecuadorean children.

Research

Clinical Implications of Minimal Residual Disease Detection in Infants With KMT2A-Rearranged Acute Lymphoblastic Leukemia Treated on the Interfant-06 Protocol

Infant acute lymphoblastic leukemia (ALL) is characterized by a high incidence of KMT2A gene rearrangements and poor outcome. We evaluated the value of minimal residual disease (MRD) in infants with KMT2A-rearranged ALL treated within the Interfant-06 protocol, which compared lymphoid-style consolidation (protocol IB) versus myeloid-style consolidation (araC, daunorubicin, etoposide/mitoxantrone, araC, etoposide).

Research

Gender Balance in Anesthesiology: Is a Change of Societal Mindset Needed?

With great interest, we are following the discussion on Speaker Gender Representation and Trends in Authorship. While it is indeed very popular and important to look at speaker representation, authorship, or board membership by gender, the underlying reasons for the unequal gender representation are not as easy to determine. Counting numbers on panels or boards may also not add up to real representation.