Targeted exonic sequencing identifies novel variants in a cerebral small vessel disease cohort.

Background And Aims: Cerebral small vessel diseases (CSVDs) are a set of conditions that affect the small blood vessels in the brain and can cause severe neurological pathologies such as stroke and vascular dementia. The most common monogenic CSVD is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) which is caused by mutations in NOTCH3. However, only 15-20% of CADASIL cases referred for genetic testing have pathogenic mutations in NOTCH3.

Sirtuin Proteins and Memory: A Promising Target in Alzheimer's Disease Therapy?

Sirtuins (SIRTs), nicotine adenine dinucleotide (+)-dependent histone deacetylases, have emerged as critical regulators in many signalling pathways involved in a wide range of biological processes. Currently, seven mammalian SIRTs have been characterized and are found across a number of cellular compartments. There has been considerable interest in the role of SIRTs in the brain due to their role in a plethora of metabolic- and age-related diseases, including their involvement in learning and memory function in physiological and pathophysiological conditions.

Obesity at the age of 4-5 related to asthma diagnosis in later childhood: A longitudinal study using linked routinely collected data from Wales.

Introduction: Obesity and asthma are two of the most common childhood conditions and their prevalence have increased over the last decades. Several cross-sectional studies provide strong evidence for a positive association between these two conditions. However, few longitudinal studies have examined the temporal relationship between them.

Residential mobility amongst children and young people in Wales: A longitudinal study using linked administrative records.

Background: Child poverty remains a major global concern and a child's experience of deprivation is heavily shaped by where they live and the stability of their local neighbourhood. This study examines frequencies and patterns of residential mobility in children and young people (CYP) at a population level using novel geospatial techniques to assess how often their physical environment changes and to identify geographical variations in social mobility.

Methods: We used routinely collected administrative records held in the Secure Anonymised Information Linkage (SAIL) Databank for CYP aged under 18 years living in Wales between 2012 and 2022.