Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of NDDs pose a formidable challenge, given their multifaceted genetic architecture and heterogeneous clinical presentations. This work delves into the intricate interplay between genetic varian...

While lead isotopes serve to determine potential ore provenance, silver isotopes help evaluate if a specific ore flagged by Pb isotopes has actually been exploited as a silver source of bullion in antiquity. The combination of Ag and Pb isotopes thus constitutes a powerful tool to address provenance and identify potential ore sources. It has recently been observed that the vast majority of silver isotopic abundances in hundred...

The present study aimed to evaluate the best strategy to enhance the degradation rate of heavy petroleum hydrocarbons (HPH) contaminated soil in a landfarming plant. Samples of real contaminated soil, further spiked with HPH, were treated in mesocosm reactors simulating the landfarming system. One reactor was operated without any modification compared to the real landfarming plant. The other three reactors were operated with d...

Pathogenic variants (PVs) in CYP24A1 gene are associated with Idiopathic Infantile Hypercalcemia disease (IIH). The identification of CYP24A1 PVs can be a useful tool for the improvement of target therapeutic strategies. Aim of this study is to set up a rapid and inexpensive High Resolution Melting Analysis (HRMA)-based method for the simultaneous genotyping of two hot spot PVs in CYP24A1 gene, involved in IIH. A duplex-HRMA (...

There are over 3 million people in sub-Saharan Africa (SSA) aged 50 and over living with HIV. HIV and combined antiretroviral therapy (cART) exposure may accelerate the ageing in this population, and thus increase the prevalence of premature frailty. There is a paucity of data on the prevalence of frailty in an older HIV + population in SSA and screening and diagnostic tools to identify frailty in SSA. Patients aged ≥ 50 were...