Evaluation of 'Dementia Friends' programme for undergraduate nursing students: Innovative practice.

The ‘dementia friends’ programme was launched by the Alzheimer’s Society in the UK two years ago with the purpose of educating members of the public about the things they can do which can enhance the lives of people living with dementia. The aim of this project was to deliver a two-hour ‘Dementia Friendly Community Workshop’ written by the Alzheimer’s Society, to an entire cohort of first-year undergraduate nursing students in one Higher Education Institutions in Northern Ireland. Following delivery of the programme, students were asked to complete a short questionnaire on their knowledge and confidence in relation to dementia care before and after the Dementia Friendly Community programme. A total of 322 undergraduate first-year nursing students took part in the Dementia Friendly Community programme. Of these, 304 returned questionnaires; 31.25% of students stated their perceived improvement in dementia knowledge was ‘good’ while 49.01% stated their perceived improvement in dementia knowledge was ‘very good’ and 13.49% stated their perceived improvement in dementia knowledge was ‘excellent’. In relation to confidence in engaging with people with dementia, 31.91% stated ‘good’ improvement, 40.79% stated ‘very good’ improvement and 11.84% stated ‘excellent’ improvement. The Dementia Friendly Community programme was positively reviewed by the undergraduate students as it enhanced knowledge and confidence in relation to care of someone living with dementia. </jats:p

A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.

We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10⁻¹²) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10⁻¹¹) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10⁻⁷) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10⁻¹¹) and a tag SNP for NAT2 acetylation status (P = 4 × 10⁻¹¹), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis

Common genetic variants on chromosome 9p21 are associated with myocardial infarction and type 2 diabetes in an Italian population

<p>Abstract</p> <p>Background</p> <p>A genomic region on chromosome 9p21 has been identified as closely associated with increased susceptibility to coronary artery disease (CAD) and to type 2 diabetes (T2D) although the evidence suggests that the genetic variants within chromosome 9p21 that contribute to CAD are different from those that contribute to T2D.</p> <p>We carried out an association case-control study in an Italian population to test the association between two single nucleotide polymorphisms (SNPs) on the 9p21 locus, rs2891168 and rs10811661, previously reported by the PROCARDIS study, and respectively myocardial infarction (MI) and T2D. Our aim was to confirm the previous findings on a larger sample and to verify the independence of their susceptibility effects: rs2891168 associated with MI but not with T2D and rs10811661 associated with T2D but not with MI.</p> <p>Methods</p> <p>Genomic DNA samples of 2407 Italians with T2D (602 patients), who had had a recent MI (600), or had both diseases (600) and healthy controls (605) were genotyped for the two SNPs. The genotypes were determined by allelic discrimination using a fluorescent-based TaqMan assay.</p> <p>Results</p> <p>SNP rs2891168 was associated with MI, but not with T2D and the G-allele odds ratio (OR) was 1.20 (95% CI 1.02-1.41); SNP rs10811661 was associated with T2D, but not with MI, and the T-allele OR was 1.27 (95% CI 1.04-1.55). ORs estimates from the present study and the PROCARDIS study were pooled and confirmed the previous findings, with greater precision.</p> <p>Conclusions</p> <p>Our replication study showed that rs2891168 and rs10811661 are independently associated respectively with MI and T2D in an Italian population. Pooling our results with those reported by the PROCARDIS group, we also obtained a significant result of association with diabetes for rs10811661 in the European population.</p

Identifying Highly Conserved and Highly Differentiated Gene Ontology Categories in Human Populations

Detecting and interpreting certain system-level characteristics associated with human population genetic differences is a challenge for human geneticists. In this study, we conducted a population genetic study using the HapMap genotype data to identify certain special Gene Ontology (GO) categories associated with high/low genetic difference among 11 Hapmap populations. Initially, the genetic differences in each gene region among these populations were measured using allele frequency, linkage disequilibrium (LD) pattern, and transferability of tagSNPs. The associations between each GO term and these genetic differences were then identified. The results showed that cellular process, catalytic activity, binding, and some of their sub-terms were associated with high levels of genetic difference, and genes involved in these functional categories displayed, on average, high genetic diversity among different populations. By contrast, multicellular organismal processes, molecular transducer activity, and some of their sub-terms were associated with low levels of genetic difference. In particular, the neurological system process under the multicellular organismal process category had low levels of genetic difference; the neurological function also showed high evolutionary conservation between species in some previous studies. These results may provide a new insight into the understanding of human evolutionary history at the system-level

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types

Stroke genetics informs drug discovery and risk prediction across ancestries

Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated (P < 0.05). Effect sizes were highly correlated across ancestries. Cross-ancestry fine-mapping, in silico mutagenesis analysis3, and transcriptome-wide and proteome-wide association analyses revealed putative causal genes (such as SH3PXD2A and FURIN) and variants (such as at GRK5 and NOS3). Using a three-pronged approach4, we provide genetic evidence for putative drug effects, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as possible targets, with drugs already under investigation for stroke for F11 and PROC. A polygenic score integrating cross-ancestry and ancestry-specific stroke GWASs with vascular-risk factor GWASs (integrative polygenic scores) strongly predicted ischaemic stroke in populations of European, East Asian and African ancestry5. Stroke genetic risk scores were predictive of ischaemic stroke independent of clinical risk factors in 52,600 clinical-trial participants with cardiometabolic disease. Our results provide insights to inform biology, reveal potential drug targets and derive genetic risk prediction tools across ancestries

Poverty measurement and depression symptomology in the context of welfare reform.

University of Minnesota Ph.D. dissertation. January 2011. Major: Family Social Science. Advisor: Jean W. Bauer. 1 computer file (PDF); iv, 100 p.The present study addresses current debates in the literature by examining and comparing methods used to define and measure poverty, and examining the relationship between poverty and depression symptomology. The data come from a USDA-funded, NC-233 multi-state, longitudinal project entitled "Rural Low-Income Families: Tracking Their Well-Being and Functioning in the Context of Welfare Reform," commonly called "Rural Families Speak." The first wave of data includes 413 rural mothers who earned below 200% of the Federal Poverty Guideline and had at least one child under the age of 13. Data was gathered over 3 waves from 23 rural counties in 13 states, between May, 1999 and October, 2003. The study was timed to examine the effects of welfare reform rules that limit benefit receipt to 60 months in a lifetime. This study explores two significant issues related to poverty and depression symptomology. How to best measure poverty as it relates to depression symptomology is addressed in Phase 1, through a comparative analysis of six different poverty measures. Phase 2 utilizes two poverty measures that show the strongest relationship with depression symptomology to address the question of whether poverty causes depression, or depression causes poverty, through a comparison of social causation and social selection theories. Depression symptomology is determined through use of the Center for Epidemiologic Studies Depression Scale (CES-D). Phase 1 analysis reveals food security as the poverty measure with the strongest relationship to depression symptomology. Annual income calculated as a percentage of the Federal Poverty Guideline shows the second strongest relationship. Phase 2 analyses are completed in four data runs. Two data runs that include a series of regression analyses use food security and depression symptomology, interchanging each as the independent and dependent variables. The data runs are then repeated using the poverty guideline measure. Phase 2 results reveal limited support for social causation theory, with a few models showing marginally significant effects when food security in an earlier wave predicts depression symptomology in a later wave. Implications for using food security as a measure of poverty, policy implications, directions for future research, and application of findings are discussed

Dopamine agonist monotherapy utilization in patients with Parkinson’s disease

Objectives: To characterize patients with Parkinson’s disease (PD) who initiated dopamine agonist (DA) monotherapy, describe medication utilization and provider types, and estimate medication adherence and discontinuation rates. Methods: Retrospective study identified patients with PD in the Optum Research Database and included those with ≥1 claim for DA or levodopa between 09/01/2012 and 12/31/2018, ≥2 PD diagnoses, commercial or Medicare Advantage Part D (MAPD) insurance, ≥40 years old, and continuous medical and pharmacy coverage ≥12 months before and after index date. A subset of patients receiving DA monotherapy was selected for this analysis. Variables were analyzed descriptively. Adherence was measured with medication possession ratio (MPR) and proportion of days covered (PDC); defined as ≥0.80. Results: Patients (N = 642) had mean (SD) age of 70.2 (9.9) years, 70.6 % had MAPD coverage, and 61.7 % were male. Neurologists prescribed 64.6 % of DA monotherapy, and 56.9 % of patients had ≥2 PD diagnoses before or on the index date. Index therapy was discontinued by 44.1 % of patients, and 55.9 % persisted for 12 months without change. Mean (SD) time to discontinuation was 102 (79) days. Mean (SD) MPR for patients (n = 562) with ≥2 fills was 0.84 (0.2); 70.3 % were MPR adherent. Mean (SD) PDC for all 642 patients was 0.66 (0.3); 50.5 % were PDC adherent. Conclusion: Adherence and continuation of therapy were suboptimal, which could translate into poor patient outcomes. Future studies could provide insights on the impact of low adherence and persistence with DA monotherapy