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...

Estrone (E1) is one of the major natural estrogens influencing the reproductive system of vertebrates. However, it contaminates aquatic environments due to runoff from livestock waste and the discharge of domestic sewage. The aim of this study was to investigate the impact of exposure to environmentally relevant concentrations of E1 on oogenesis and spawning in zebrafish ( Danio rerio ). Fish were exposed, in duplicate, to 20,...

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...

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...

The chemical characterisation of archaeological finds necessitates a continuous focus on the development of nano/micro-invasive methodologies. These methodologies yield insights into the historical background, production processes, and conservation state of the items, often revealing astonishing properties of materials that have been unexpectedly preserved over the centuries. This work aims to characterise the molecular compos...