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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.
Individuals experiencing homelessness are among the most vulnerable population for mental and physical health disparities. Despite navigating numerous stressors on a day-to-day basis, they are vastly underrepresented within coping research. Using a person-centered approach, this study addresses ways in which technology is leveraged to manage ongoing stressors associated with the experience of homelessness.
Immune surveillance by cytotoxic T cells eliminates tumor cells and cells infected by intracellular pathogens. This process relies on the presentation of antigenic peptides by Major Histocompatibility Complex class I (MHC-I) at the cell surface. The loading of these peptides onto MHC-I depends on the peptide loading complex (PLC) at the endoplasmic reticulum (ER).
The Australian and New Zealand Paediatric Infectious Diseases (ANZPID) Group of the Australasian Society for Infectious Diseases (ASID) calls for urgent consideration of the needs and voices of children in response to the COVID-19 pandemic, and in planning for future pandemics.
Belaynew Christopher Peter Hannah Minda Huong Taye Blyth Richmond Moore Sarna Le MD, MPH, PhD MBBS (Hons) DCH FRACP FRCPA PhD MBBS MRCP(UK) FRACP OAM
Children and adolescents with Intellectual Disability experience a worse Quality-of-Life (QoL) relative to typically developing peers. Thus, QoL evaluation is important for identifying support needs and improving rehabilitation effectiveness. Nevertheless, currently in Italy there are not tools with this scope. This study aims to translate and cross-culturally adapt the Quality-of-Life Inventory-Disability into Italian.
In recent decades, field and semi-field studies of malaria transmission have gathered geographic-specific information about mosquito ecology, behaviour and their sensitivity to interventions. Mathematical models of malaria transmission can incorporate such data to infer the likely impact of vector control interventions and hence guide malaria control strategies in various geographies.
Child poverty remains a major global concern and a child's experience of deprivation is heavily shaped by where they live and the stability of their local neighbourhood. This study examines frequencies and patterns of residential mobility in children and young people at a population level using novel geospatial techniques to assess how often their physical environment changes and to identify geographical variations in social mobility.
Base editing technologies enable programmable single-nucleotide changes in target DNA without double-stranded DNA breaks. Adenine base editors (ABEs) allow precise conversion of adenine to guanine. However, limited availability of optimized deaminases as well as their variable efficiencies across different target sequences can limit the ability of ABEs to achieve effective adenine editing.
A mother's diet during pregnancy may influence her infant's immune development. However, as potential interactions between components of our dietary intakes can make any nutritional analysis complex, here we took a multi-component dietary analysis approach.