Abstract Genomic studies of autism spectrum disorder (ASD) have largely excluded admixed populations. To address this gap, we characterized the genomic landscape of ASD in Brazil by combining a systematic literature review with whole-exome sequencing analysis of 441 Brazilian individuals and their families. Our analysis revealed a conclusive molecular diagnosis in 13.1% of probands. The diagnostic yield was higher among individuals with clinical features, particularly comorbid signs of intellectual disability, hypotonia, and seizures, providing a basis for prioritizing genetic testing. The sample presented a diverse ancestry, with major European, African, and Native American contributions. Notably, more than half of the identified rare risk variants were located on non-European haplotypes. Both de novo and inherited variants contributed to ASD risk, and we reinforce NPAS3 as a candidate ASD risk gene. This study provides the first comprehensive genomic overview of ASD in a large Brazilian cohort, reinforcing the critical need to include diversely admixed populations in genomic research to expand the understanding of ASD architecture and improve diagnostic strategies in resource-limited settings.
Gabriele da Silva Campos, C. I. S. Costa, J. Wang et al.· Genetics and Molecular Biolo...· 0 citations
Microplastics have emerged as environmental contaminants of growing concern due to their potential impacts on human health. The mammary gland represents a biologically relevant target because of its hormonal sensitivity, lipid-rich composition, and dynamic cellular remodeling. This integrative review synthesized experimental evidence on the effects of micro- and nanoplastics on breast tissue and breast cancer biology. A literature search was conducted in PubMed, Scopus, Google Scholar, and CAPES databases following PRISMA guidelines, identifying 14 eligible studies involving detection in breast milk and breast tissue, as well as toxicological investigations in in vitro and in vivo models. Experimental evidence indicates that microplastics can be internalized by mammary epithelial and breast cancer cells, inducing oxidative stress, mitochondrial dysfunction, inflammatory signaling, and genomic instability. Exposure was also associated with altered gene and protein expression, disruption of cell cycle regulation, and modulation of signaling pathways involved in tumor progression. Animal studies further suggest potential effects on tumor growth, inflammatory microenvironments, and histopathological changes in mammary tissue. Overall, current findings provide mechanistic and hypothesis-generating evidence that microplastics may influence biological processes associated with breast carcinogenesis under specific experimental conditions. However, methodological heterogeneity remains a major limitation, highlighting the need for standardized and translational studies.
G. R. Pinheiro, Maria Clara P de Oliveira, Luan Mauro G Ferreira et al.· Food and Chemical Toxicology· 0 citations
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