Exome sequencing (ES) has become a primary tool for diagnosing neurodevelopmental disorders (NDDs), yet the interpretation of genetic variants in large, heterogeneous cohorts presents significant challenges that automated pipelines often fail to resolve. This study showcases the complexities and novel findings derived from a decade-long analysis of 419 Italian NDD patient-parent trios. While ES established a molecular diagnosi...

Bacteremia is a major health problem that affects millions of people worldwide. E. coli is one of the main pathogens associated with bacteremia and its resistance to the antimicrobial drugs, including β-lactams, has significantly increased in recent years. In view of the above, our objective was to determine the antimicrobial resistance profile of 60 E. coli isolates obtained from patients with bacteremia, as well as to charac...

The Paraguayan hairy dwarf porcupine ( Coendou spinosus , Cuvier, 1823) is a rodent species (Rodentia, Erethizontidae) widely distributed in the Brazilian Atlantic forest. However, little is known about their viral diversity. In this study, we aimed to evaluate, using high-throughput sequencing (HTS), the virome of the feces of seven healthy adult free-living porcupines from Silva Jardim, Rio de Janeiro, Brazil. Total viral nu...

The emergence and persistence of plasmid-mediated polymyxin resistance in Brazilian poultry production pose a significant One Health challenge. Here, cloacal swabs from 202 broilers across four farms in the State of Rio de Janeiro yielded 125 Enterobacteriaceae isolates growing on polymyxin-EMB agar. Escherichia coli accounted for 99% of resistant isolates, with one Klebsiella pneumoniae . Multidrug resistance (MDR) was observ...