Optimizing gene prioritization for clinical diagnosis of metabolic genetic disorders.

The expansion of next-generation sequencing has generated vast genomic datasets, but translating this information into clinically actionable tools for inherited metabolic disorders (IMDs) remains challenging. In this study, we systematically mapped gene-phenotype associations in IMDs using curated data from OMIM, ClinVar, Orphanet, and the Genetic Testing Registry (GTR). From 372 OMIM entries, we identified 228 genes definitively associated with metabolic diseases (GAMD).

The Fertility Market in Latin America and Brazil: A Narrative Review of Trends and Key Players.

Facing a global increase in infertility rates, this study casts a spotlight on the fertility and assisted reproduction (ART) market within Brazil and Latin America, against a backdrop of considerable political and programmatic challenges. Addressing the scarcity of comprehensive studies and the variable accessibility to ART services, our objective is to unravel the growth dynamics and the disparities in ART accessibility and quality across these regions. Studies were analyzed within the PubMed, Google Scholar, and Grey Literature databases.

Unveiling the effects of landscape-fire interactions on functional diversity in a Southern European mountain.

Climate and land-use changes are contributing to impacts on global ecosystem functioning. These effects are particularly severe in areas undergoing land abandonment and extreme wildfire events, such as the Mediterranean regions of the Iberian Peninsula. Previous studies have evaluated the impacts of land management on fire mitigation and biodiversity (species distribution and species richness), but how such strategies influence functional diversity remains unexplored.

Human seminal virome: a panel based on recent literature.

Background: The seminal virome and its implications for fertility remain poorly understood. To date, there are no defined panels for the detection of viruses of clinical interest in seminal samples.

Results: In this study, we characterized the human seminal virome based on more than 1,000 studies published over the last five years.

The role of HPV-induced epigenetic changes in cervical carcinogenesis (Review).

Cervical cancer is associated with infection by certain types of human papillomaviruses (HPVs), and this affects women worldwide. Despite the improvements in prevention and cure of HPV-induced cervical cancer, it remains the second most common type of cancer in women in the least developed regions of the world. Epigenetic modifications are stable long-term changes that occur in the DNA, and are part of a natural evolutionary process of necessary adaptations to the environment.