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A de novo Loss-of-function Variant in RAPGEF6 Supports its Role in Neuropsychiatric DisordersNARA Subscribed
RAPGEF6 is a member of the guanine nucleotide exchange factor (GEF) subfamily that acts on Rap small GTPases and contains a Ras/Rap-associating domain. Although deficiency of this gene has previously been linked to schizophrenia, no MIM phenotype entry currently associates RAPGEF6 with a defined clinical condition. In this study, trio-based whole-exome sequencing (WES) was performed in an individual presenting with psychiatric...
Lewy body disease (LBD) and Alzheimer’s disease (AD) are the most common causes of cognitive decline and dementia and are associated with characteristic alterations in resting-state electroencephalographic (rsEEG) activity. This multicenter exploratory study investigated periodic and aperiodic rsEEG features in patients with cognitive decline due to Lewy body disease (LBCD) and Alzheimer’s disease (ADCD), compared with cogniti...
In the current context of the energy transition, the reuse of offshore oil and gas (O&G) structures that have reached the end of their operational life presents new engineering challenges. Many projects aim to adapt existing facilities for a range of alternative uses. This paper outlines guidelines for identifying the most suitable conversion options aligned with the goals of the ongoing energy transition, focusing on the Ital...
Serum Vitamin E Levels in Multiple Sclerosis: Association with Diagnosis, Cognitive Function, Disability, and Depressive SymptomsNARA Subscribed
Multiple sclerosis (MS) is a chronic inflammatory and neurodegenerative disease of the central nervous system and the most common neurodegenerative disease in young adults, characterized by motor, sensory, visual, and cognitive impairments. Vitamin E (α-Tocopherol), a fat-soluble antioxidant, may influence cognitive function, disability, and mood in MS. One hundred eighty-four Italian Caucasian MS patients and ninety-four heal...
Managing tuberculosis infection among migrants from high-incidence tuberculosis countries: challenges, strategies and recommendationsNARA Subscribed
Tuberculosis (TB) remains a significant global health challenge, especially in countries with low TB incidence, exacerbated by the influx of migrants from high TB-burden regions. This paper reviews the challenges and strategies for managing TB infection (TBI) among migrants. Challenges in screening and treating TBI among migrants include diagnostic limitations of available tests which are tuberculin skin test (TST) and interfe...
Over the past few decades, demand for sea urchin roe has risen, while wild sea urchin populations have declined. This trend has increased interest in aquaculture techniques and the development of formulated feeds to support ecological restoration and research. Here, we examined the effects of a high-protein formulated feed on gonad development in Paracentrotus lividus, compared to fresh feeds (maize and spinach), across three...
Prof Stephen P. Long, FRS (1950–2025)NARA Subscribed