ADAMS project: a genetic Association study in individuals from Diverse Ancestral backgrounds with Multiple Sclerosis based in the UK.

PURPOSE: Genetic studies of multiple sclerosis (MS) susceptibility and severity have focused on populations of European ancestry. Studying MS genetics in other ancestral groups is necessary to determine the generalisability of these findings. The genetic Association study in individuals from Diverse Ancestral backgrounds with Multiple Sclerosis (ADAMS) project aims to gather genetic and phenotypic data on a large cohort of ancestrally-diverse individuals with MS living in the UK. PARTICIPANTS: Adults with self-reported MS from diverse ancestral backgrounds. Recruitment is via clinical sites, online (https://app.mantal.co.uk/adams) or the UK MS Register. We are collecting demographic and phenotypic data using a baseline questionnaire and subsequent healthcare record linkage. We are collecting DNA from participants using saliva kits (Oragene-600) and genotyping using the Illumina Global Screening Array V.3. FINDINGS TO DATE: As of 3 January 2023, we have recruited 682 participants (n=446 online, n=55 via sites, n=181 via the UK MS Register). Of this initial cohort, 71.2% of participants are female, with a median age of 44.9 years at recruitment. Over 60% of the cohort are non-white British, with 23.5% identifying as Asian or Asian British, 16.2% as Black, African, Caribbean or Black British and 20.9% identifying as having mixed or other backgrounds. The median age at first symptom is 28 years, and median age at diagnosis is 32 years. 76.8% have relapsing-remitting MS, and 13.5% have secondary progressive MS. FUTURE PLANS: Recruitment will continue over the next 10 years. Genotyping and genetic data quality control are ongoing. Within the next 3 years, we aim to perform initial genetic analyses of susceptibility and severity with a view to replicating the findings from European-ancestry studies. In the long term, genetic data will be combined with other datasets to further cross-ancestry genetic discoveries.

The effectiveness of remote monitoring of elderly patients after hospitalisation for heart failure: The renewing health European project.

Background: The effectiveness of remote monitoring (RM) in the management of the elderly after hospitalisation for heart failure (HF) is uncertain. Methods and results: Randomized trial (2:1 design) comparing RM with usual care (UC) in patients >65 years old, hospitalised in the previous 3 months for HF with left ventricular ejection fraction <40% or >40% plus BNP > 400 (or NT-proBNP >1500); the primary end-point (PE) was the combined 12-month incidence of death by any cause or at least one hospital readmission for HF. Overall, 229 and 110 pts were enrolled in the RM and UC group, respectively; in the intention-to-treat analysis, the PE was reached in 101 (44.1%) and 51 (46.4%) patients in the RM and UC group respectively (p = 0.78), with no difference in mortality (24.0% vs 21.8%, p = 0.097) or in the proportion of patients with at least one rehospitalisation for HF (34.5% vs 39.1%, p = 0.48). Quality of life, secondary end-point measured by SF36v2 scores, was significantly improved in the RM group, both in physical (2.63 score difference, p < 0.0001) and mental (1.69 score difference, p = 0.04) components. In the on-treatment analysis comparing 190 patients that ultimately received RM with the 149 remaining patients, the primary end-point was reached in 40.0% vs 51.0% (p = 0.055), respectively. Conclusion: In the intention-to-treat analysis, during the 12-month follow up of elderly patients hospitalised for HF, remote monitoring had no impact on the primary end-point but it significantly improved patients' quality of life. In the on-treatment analysis a trend for improving the PE was observed in the RM group.

Abnormality of taste and smell in Parkinson's disease.

BACKGROUND: Smell sense is impaired in classic Parkinson's disease (PD). An initial study found no change in taste threshold in non-demented PD subjects and pathological studies suggest that the first relay for taste, the nucleus of the solitary tract, is spared. We wished to determine if taste is abnormal in PD and whether it is associated with smell dysfunction. METHODS: Taste threshold was estimated using the Rion electrogustometer and olfaction by the University of Pennsylvania Smell Identification Test (UPSIT) in 75 non-demented PD patients and 74 controls. RESULTS: There was a significant impairment of taste threshold and severe disorder of smell identification in the PD group. Age, duration of symptoms, disability, and smoking had no important effect on threshold measurement and there was no correlation between taste and smell dysfunction. Sensitivity analysis suggested that a provisional diagnosis of PD would be confirmed if smell or taste were abnormal; conversely, the diagnosis would merit review if both modalities were normal. CONCLUSIONS: Impaired taste appreciation was found in about 27% of patients with clinically defined PD. There were no important effects from age, disease severity or smell sense. Given the sparing of the first and second order taste neurones in PD, disorder of taste in PD most likely signifies involvement of the frontal operculum or orbitofrontal cortex, in keeping with advanced disease, although confounding by drug effects and changes in salivary constitution could not be excluded completely.