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...

β-Lapachone exhibits potent anticancer activity although its clinical application remains limited by toxicity and mechanisms of resistance. Therefore, structural modifications have been explored to improve its pharmacological profile. This study evaluated the cytotoxic, genotoxic, and toxicological effects of the oxime derivative β-lapachone oxime (Oxβ-Lp), together with its predicted pharmacokinetic properties and potential m...

This is an exploratory case–control study assessed levels of metals and essential trace elements in hair samples from children with Autism Spectrum Disorder (ASD) and neurotypical controls, exploring potential differences according to sex. A total of 154 children (61 children with ASD and 93 controls) aged 4–18 years were enrolled at the same clinical site in Eastern Sicily. Demographic, perinatal, dietary, and exposure inform...

The transition period is an extremely critical phase for the Mediterranean lactating buffaloes, characterized by a state of oxidative stress. Oral administration of antioxidants is common. However, the aim of this study was to evaluate whether the intramuscular administration of a vitamin combination, containing α-tocopherol and β-carotene, could improve both milk quality and reproductive performance. The animals were divided...

Arctic fjords are among the most sensitive ecosystems, particularly affected by rapid cryospheric changes. One of the most prominent consequences of global warming in these regions is the increasing input of glacial meltwater, which alters the physical and chemical structure of fjord systems and profoundly affects prokaryotic (bacterial and archaeal) communities. Despite these changes, the impacts on prokaryotic communities, c...

The occurrence of the bigfin reef squid Sepioteuthis lessoniana, a Lessepsian migrant, is documented for the first time from the coastal waters off Malta, based on the collection of a single specimen reported through citizen science. The presence of this species in the broader Strait of Sicily region is further confirmed by a morphometric assessment and genetic analysis of another individual captured off the Pelagian island of...

Polychlorinated biphenyls (PCBs) are long-lasting organic pollutants commonly found in polar regions due to their ability to be transported and deposited over long distances in the atmosphere. This study examined the levels of PCB contamination in water and sediment samples taken from Arctic lakes (Ny-Ålesund, Svalbard) and Antarctic lakes (Livingston Island and Deception Island) and evaluated the biodegradation capabilities o...

In SubArctic ecosystems, the microbial metabolic response to environmental changes is still underinvestigated. In the framework of the pan-Arctic Synoptic Arctic Survey network, the microbial community physiological profiles were determined by Biolog Ecoplates in a pelagic transect crossing the Greenland Sea at 75°N. At six hydrographic stations, seawater was sampled to cover the whole water column ranging from surface to 3532...