Functional analysis of SRY variants in individuals with 46,XY Differences of Sex Development.

In mammals, male sexual development is initiated by the expression of the Sex-determining-Region-Y (SRY) gene. SRY contains a highly conserved High Mobility Group (HMG) box essential for DNA binding and activity. Variants in SRY cause Differences of Sex Development (DSD), accounting for 10-15% of 46,XY gonadal dysgenesis cases.

Update on Fatty Acids and the Brain.

The brain is a lipid-rich organ, mainly due to the very high lipid content of myelin, but in addition to this, all the neuronal cell membranes, of which there are over 80 billion in the human brain [...

Predicting incident dementia in community-dwelling older adults using primary and secondary care data from electronic health records.

Predicting risk of future dementia is essential for primary prevention strategies, particularly in the era of novel immunotherapies. However, few studies have developed population-level prediction models using existing routine healthcare data. In this longitudinal retrospective cohort study, we predicted incident dementia using primary and secondary care health records at 5, 10 and 13 years in 144 113 Scottish older adults who were dementia-free prior to 1st April 2009.

Does a Healthy Weight Body Mass Index at Onset of Idiopathic Intracranial Hypertension Change the Outcomes? A United Kingdom Prospective Cohort Study.

Idiopathic intracranial hypertension (IIH) predominantly affects reproductive-aged females with obesity. However, the prevalence and impact of a healthy weight body mass index (BMI) at disease presentation is not known. This study aimed to evaluate the visual and headache outcomes stratified by the presenting BMI.

Type 1 Diabetes in care homes: A practical guide on management.

The primary purpose of the original NAPCHD project was to develop a national Strategic Document of Diabetes Care for Care Homes which has now been completed and well received as a worthwhile, sustainable, and effective guidance for delivering quality diabetes care in the UK. A Working Group of NAPCHD was established to produce a Position Statement on type 1 diabetes in care homes since this area was recommended as a topic to further develop. There are currently limited data on the prevalence and clinical outcomes associated with type 1 diabetes in care homes and management policies have been non-existent in the UK.