The Human Phenotype Ontology in 2024: phenotypes around the world.

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.

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.

Background: Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized, and new diseases are discovered every month. Although very few people are affected by each uncommon disease individually, millions of people are thought to be impacted globally when all these conditions are considered.

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.

Introduction: Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the low- and medium-income ones. Hence, undiagnosed RD (URD) account for a significant portion of the overall RD burden.

Unlocking sociocultural and community factors for the global adoption of genomic medicine.

Advances in genomic sequencing and genetic testing are increasingly transforming the diagnosis and treatment of diseases-specifically, rare diseases. However, the application and benefit of such technologies remain inequitable globally. There is a clear and urgent need to provide genomic sequencing to people across the global population, including people living in under-resourced areas and/or underrepresented populations.

Seasonal Changes in Pesticide Residues in Water and Sediments from River Tano, Ghana.

Pollution due to pesticide residues has been reported in the downstream of the Tano Basin in the rainy season and has been attributed to the anthropogenic activities upstream. However, data on the seasonal variations in pesticide residues in the upstream of Tano Basin are limited. Seasonal variations in 13 organochlorine pesticide residues, 8 organophosphorus pesticide residues, and 5 synthetic pesticide residues in water and sediment samples of River Tano upstream were assessed through extraction and Varian CP-3800 gas chromatography equipped with a CombiPAL Auto sampler set at ionization mode electron impact methods.

Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.

Pfeiffer syndrome is a rare genetic condition that includes anomalies of the head, hands, and feet. It was originally described by Rudolf Pfeiffer in 1964. As a result of varied clinical presentations, there is a low threshold for missing the diagnosis.

Assessment of Typha capensis for the remediation of soil contaminated with As, Hg, Cd and Pb.

The use of macrophytes has been identified as one of the eco-friendly means of remediating soils contaminated with heavy metal(loid)s. This study sought to ascertain the synergistic influences of Hg, As, Cd and Pb on the uptake capacity of Typha capensis in remediating soils contaminated with these pollutants. Uptake of Hg, As, Cd and Pb by this aquatic plant species in metal(loid)-contaminated water and soil was studied in batch culture experiment.