The Human Phenotype Ontology in 2024: phenotypes around the world

\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

The effectiveness of health interventions in cardiovascular risk reduction among emergency service personnel

PurposeThe physical demands and hazards associated with emergency service work place particular stress on responders&rsquo; cardiovascular systems. Indeed, cardiovascular disease (CVD) is a significant problem for emergency service personnel. Although it may be difficult to alter the cardiovascular health hazards associated with the work environment, it is possible for personnel to control their modifiable CVD risk factors, cardiovascular fitness levels and subsequently, reduce their CVD risk. This review aimed to determine the effectiveness and methodological quality of health interventions designed to mitigate CVD risk in emergency service personnel.MethodsA literature search of electronic journal databases was performed. Sixteen relevant studies were assessed for methodological quality using a standardised assessment tool. Data regarding the effectiveness of each intervention were extracted and synthesised in a narrative format.ResultsFifteen studies were rated &lsquo;Weak&rsquo; and one study was rated &lsquo;Strong&rsquo;. Interventions which combined behavioural counselling, exercise and nutrition were more effective in improving cardiovascular health than nutrition, exercise or CVD risk factor assessment-based interventions alone. Further, CVD risk factor assessment in isolation proved to be an ineffective intervention type to reduce CVD risk.ConclusionCombined interventions appear most effective in improving the cardiovascular health of emergency service personnel. Accordingly, fire and emergency service agencies should consider trialling multifaceted interventions to improve the cardiovascular health of personnel and avoid interventions focused only on one of nutrition, exercise or CVD risk factor assessment. However, as most studies were methodologically weak, further studies of a higher methodological quality are needed.<br /