Overby Cunningham (thumbrugby3)

Purpose of the study Alzheimer's disease (AD) is the most common type of dementia and its prevalence is rapidly increasing worldwide. Early-onset Alzheimer's disease (EOAD) constitutes of patients with age of onset earlier than 65 year-old and is known to be associated with genetic mutations. In this study, we reported the first genetic analysis of Vietnamese patients with EOAD.Materials and methods We analyzed targeted sequencing data obtained from a cohort of 51 Vietnamese EOAD patients to identify pathogenic variants in twenty nine well-characterized neurodengerative genes.Results We identified four missense mutations in APP/PSEN1 genes from six individuals, which accounts for 11.8% of all tested cases. Three of these mutations were previously reported as pathogenic and one mutation in the APP gene was newly identified and might be specific for Vietnamese patients. Our study also found eight individuals carrying homozygous APOE ε4 allele, the main risk factor gene for late-onset AD.Conclusions Our findings showed that mutation rate in APP/PSEN genes in Vietnamese EOAD patients is consistent with that in other ethnic groups. Although further functional studies are required to validate the pathogenesis of the new mutations, our study demonstrated the necessity of genetic screening for EOAD patients as well as additional genetic data collection in Vietnamese population.This study evaluated the association of urinary nitrate concentrations with cognition in older subjects enrolled in the NHANES study. Y-27632 price We also explored whether associations between urinary nitrate and cognition were modified by cardiovascular risk, vitamin D status and vitamin C intake. Two NHANES cycles were merged (2011-2012 and 2013-2014) and a total of 1,015 adults aged 60-80 (69.4 ± 0.3) years were included. Cognition was assessed using the Word List Learning, Word List Recall, Animal Fluency and the Digit Symbol Substitution tests. Urinary nitrate was analysed using electrospray tandem mass spectrometry. Urinary nitrate concentrations were not associated with cognitive performance on any of the cognitive tests. Associations were also not significant in subjects at greater risk for cognitive impairment (i.e. high cardiovascular risk and non-optimal vitamin D status). Longitudinal analyses are needed to explore the associations of urinary nitrate concentrations with dietary nitrate intake and cognitive function. To document known risk factors, clinical severity, associated impairments and rehabilitation status of children presenting with cerebral palsy (CP) to the National Children's Hospital (NCH) in Hanoi, Vietnam. Active prospective ascertainment of cases of CP presenting between June and November 2017 to the NCH using surveillance modelled on the Paediatric Active Enhanced Disease Surveillance system in Australia. Data were collected on 765 children with CP (mean age 2 years 7 months (SD 2 y 6 mo). Mean age at diagnosis was 1 year 8 months (SD 1 y 9 mo). Children predominantly had spastic CP (95.2%, = 729), most were quadriplegic (69.6%, = 532) and 60.3% ( = 454) were Gross Motor Functional Classification System level III-V. Of the children 76.2% ( = 583) had one/more associated impairments. 36.3% ( = 276) had presumed perinatal asphyxia, 26.5% ( = 202) were preterm. Physiotherapy (94.3%, = 663) was the most common form of intervention used. Only 2.6% ( = 12) of the children who would havr evidence-based care and assistive devices.IMPLICATIONS FOR REHABILITATIONWe identified a high number of children with severe forms of cerebral palsy (CP) in Hanoi, Vietnam through hospital-based surveillance.There is an urgent need for clinician training and access to and use of evidence-based interventions including assistive technology.This study will inform local capacity building and health policy for improved diagnosis and care of children with CP in Vietnam a