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1.
Trauma Violence Abuse ; : 1524838019875696, 2019 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-31514690

RESUMO

Indigenous women experience a disproportionate burden of intimate partner violence (IPV) compared to other women in post-colonial countries such as Canada. Intersections between IPV and other forms of structural violence including racism and gender-based discrimination create a dangerous milieu where 'help seeking' may be deterred and poor health outcomes occur. The aim of this review was to explore the perspectives of First Nations, Métis and Inuit (FNMI) women living in Canada about how violence influenced their health and wellbeing. This systematic review of qualitative research used thematic analysis to produce a configurative synthesis. A comprehensive search of electronic databases was conducted. Two reviewers screened studies for relevance and congruence with eligibility criteria. Sixteen studies were included in the review. Four themes with subthemes emerged: 1) ruptured connections between family and home, 2) that emptiness… my spirit being removed, 3) seeking help and being unheard, and 4) a core no one can touch. Together these themes form complex pathways that influenced health among women exposed to violence. Findings from this review highlight the need for collaboration with FNMI women and their communities to prevent IPV and ensure access to trauma and violence informed care (TVIC). The strength and resiliency of FNMI women is fundamental to healing from violence. Working with FNMI women and their communities to build effective interventions and promote culturally meaningful care will be important directions for researchers and policy makers.

2.
Evid Based Dent ; 20(3): 85, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31562410

RESUMO

Design A prospective pilot study. Study population Five orthodontic residents in a university setting were asked to wear Bluetooth-enabled Hawley retainers for 12 hours per day except for eating and brushing. The subjects used an iPod to record the exact times that the retainer was inserted and removed. Data analysis The Bluetooth-enabled device within the Hawley retainer takes a temperature reading every ten minutes. The median difference in retainer wear was reported across a five-day study period, measured in minutes either by the device or self-reported by each subject. As the device only takes a temperature reading every ten minutes, the potential for under-reporting retainer wear was considered using a calculation to adjust for the number of times the retainers were inserted and removed. The median difference between the adjusted and unadjusted wear times were reported. A Wilcoxon matched-pairs signed rank test was used to test clinical accuracy, defined as an overall median margin of error of 5% or less for the device. Results One device malfunctioned and was replaced. Two subjects failed to synchronise their device with their iPod within 24 hours and were reminded to do so by text. The median difference between the self- and device-reported wear times (percent error) was 35 minutes or 5.1 % (range 3.3%-7.5%) using unadjusted data and 13 minutes or 1.9% (range 0.5%-3.4%) using adjusted data.Conclusions The Bluetooth-enabled device showed a clinically acceptable level of accuracy compared to self-reported retainer wear, once the data was adjusted to account for the ten-minute time interval between measurements.

3.
BMC Psychiatry ; 19(1): 287, 2019 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-31533686

RESUMO

BACKGROUND: Cardiovascular disease (CVD) is the leading cause of premature death among people with serious mental illness (SMI). Sedentary behaviour (SB) is an independent risk factor for CVD and mortality and people with SMI are highly sedentary. We developed a health coaching intervention called 'Walk this Way' to reduce SB and increase physical activity (PA) in people with SMI and conducted a pilot randomised controlled trial (RCT) to test its feasibility and acceptability. METHODS: We randomised people with SMI from three community mental health teams into either the WTW intervention or treatment as usual. The WTW intervention lasted 17 weeks and included an initial education session, fortnightly coaching, provision of pedometers and access to a weekly walking group. Objective SB and PA were measured with accelerometers. Cardiometabolic risk factors and wellbeing measures were collected. RESULTS: We recruited 40 people of whom 33 (82.5%) were followed up. 13/20 (65%) of participants allocated to the coaching intervention completed it. In the intervention group SB decreased by 56 min and total PA increased by 32 min per day on average which was sustained 6 months later. There was no change in PA or SB in the control group. When interviewed, participants in the intervention found the intervention helpful and acceptable. No adverse events were reported from the intervention. CONCLUSIONS: The intervention was feasible and acceptable to participants. Preliminary results were encouraging with improvement seen in both SB and PA. A larger study is needed to assess the effectiveness of the intervention and address any implementation challenges. TRIAL REGISTRATION: ISRCTN Registry identifier: ISRCTN37724980 , retrospectively registered 25 September 2015.

4.
PLoS One ; 14(7): e0218111, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31283791

RESUMO

Late onset Alzheimer's disease is the most common form of dementia for which about 30 susceptibility loci have been reported. The aim of the current study is to identify novel genes associated with Alzheimer's disease using the largest up-to-date reference single nucleotide polymorphism (SNP) panel, the most accurate imputation software and a novel gene-based analysis approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 million genotypes from 17,008 Alzheimer's cases and 37,154 controls. In addition to earlier reported genes, we detected three novel gene-wide significant loci PPARGC1A (p = 2.2 × 10-6), RORA (p = 7.4 × 10-7) and ZNF423 (p = 2.1 × 10-6). PPARGC1A and RORA are involved in circadian rhythm; circadian disturbances are one of the earliest symptoms of Alzheimer's disease. PPARGC1A is additionally linked to energy metabolism and the generation of amyloid beta plaques. RORA is involved in a variety of functions apart from circadian rhythm, such as cholesterol metabolism and inflammation. The ZNF423 gene resides in an Alzheimer's disease-specific protein network and is likely involved with centrosomes and DNA damage repair.

5.
Ann Neurol ; 86(3): 427-435, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31199530

RESUMO

OBJECTIVE: Alzheimer disease (AD) is the most common form of dementia and is responsible for a huge and growing health care burden in the developed and developing world. The polygenic risk score (PRS) approach has shown 75 to 84% prediction accuracy of identifying individuals with AD risk. METHODS: In this study, we tested the prediction accuracy of AD, mild cognitive impairment (MCI), and amyloid deposition risks with PRS, including and excluding APOE genotypes in a large publicly available dataset with extensive phenotypic data, the Alzheimer's Disease Neuroimaging Initiative cohort. Among MCI individuals with amyloid-positive status, we examined PRS prediction accuracy in those who converted to AD. In addition, we divided polygenic risk score by biological pathways and tested them independently for distinguishing between AD, MCI, and amyloid deposition. RESULTS: We found that AD and MCI are predicted by both APOE genotype and PRS (area under the curve [AUC] = 0.82% and 68%, respectively). Amyloid deposition is predicted by APOE only (AUC = 79%). Further progression to AD of individuals with MCI and amyloid-positive status is predicted by PRS over and above APOE (AUC = 67%). In pathway-specific PRS analyses, the protein-lipid complex has the strongest association with AD and amyloid deposition even when genes in the APOE region were removed (p = 0.0055 and p = 0.0079, respectively). INTERPRETATION: The results showed different pattern of APOE contribution in PRS risk predictions of AD/MCI and amyloid deposition. Our study suggests that APOE mostly contributes to amyloid accumulation and the PRS affects risk of further conversion to AD. ANN NEUROL 2019;86:427-435.

6.
Pharmacoepidemiol Drug Saf ; 28(8): 1086-1096, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31219227

RESUMO

PURPOSE: In June 2013, following recommendations from the World Health Organization (WHO) and Food and Drug Administration (FDA), the European Medicines Agency agreed updates to the codeine product information regarding use for pain in children younger than 12 years and children undergoing tonsillectomy or adenoidectomy (TA) for obstructive sleep apnoea. This study was conducted to (a) assess effectiveness of these measures on codeine prescribing in the "real-world" setting and (b) test feasibility of a study using a common protocol by regulators with access to databases. METHODS: The study was performed using BIFAP (Spain), CPRD (UK), and IMS® Disease Analyzer (France and Germany) databases. Prescribers included general practitioners (GPs) (France and UK), GPs and paediatricians together (Spain), and GPs, paediatricians, and ear, nose, and throat (ENT) specialists separately (Germany). Between January 2010 and June 2015, prevalence of codeine prescribing was obtained every 6 months, and a time series analysis (joinpoint) was performed. Codeine prescribing within ±30 days of TA was also identified. Furthermore, doses, durations, and prior prescribing of other analgesics were investigated. RESULTS: Over the 5-year period, codeine prescribing decreased in children younger than 12 years (by 84% in France and Spain, 44% in GP practices in Germany, and 33% in the United Kingdom). The temporal pattern was compatible with the regulatory intervention in France and the United Kingdom, whereas a decrease throughout the study period was seen in Germany and Spain. Decreased prescribing associated with TA was suggested in ENT practices in Germany. CONCLUSIONS: Codeine prescribing for children decreased in line with introduced regulatory measures. Multidatabase studies assessing impact of measures by EU regulators are feasible.

7.
Eur J Dent Educ ; 2019 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-31108006

RESUMO

INTRODUCTION: Self-reflection has become recognised as a core skill in dental education, although the ability to self-reflect is valued and measured within several professions. This review appraises the evidence for instruments available to measure the self-reflective ability of adults studying or working within any setting, not just health care. MATERIALS AND METHODS: A systematic review was conducted of 20 electronic databases (including Medline, ERIC, CINAHL and Business Source Complete) from 1975 to 2017, supplemented by citation searches. Data were extracted from each study and the studies graded against quality indicators by at least two independent reviewers, using a coding sheet. Reviewers completed a utility analysis of the assessment instruments described within included studies, appraising their reported reliability, validity, educational impact, acceptability and cost. RESULTS: A total of 131 studies met the inclusion criteria. Eighteen were judged to provide higher quality evidence for the review and three broad types of instrument were identified, namely: rubrics (or scoring guides), self-reported scales and observed behaviour. CONCLUSIONS: Three types of instrument were identified to assess the ability to self-reflect. It was not possible to recommend a single most effective instrument due to under reporting of the criteria necessary for a full utility analysis of each. The use of more than one instrument may therefore be appropriate dependent on the acceptability to the faculty, assessor, student and cost. Future research should report on the utility of assessment instruments and provide guidance on what constitutes thresholds of acceptable or unacceptable ability to self-reflect, and how this should be managed.

8.
Crit Pathw Cardiol ; 18(2): 75-79, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31094733

RESUMO

OBJECTIVE: The objective of this study was to evaluate the impact of a rapid admission protocol for chest pain patients presenting to the emergency department (ED) on ED length-of-stay (LOS). In this study, ED LOS was defined as the time from triage check-in until the time the patient physically leaves the ED. The purpose of this quality improvement study was to decrease ED crowding. METHODS: This is a single-center prospective cohort study performed as a quality improvement initiative. This study implemented a rapid admission protocol for patients who were at moderate risk for a major adverse cardiac event based on the HEART score. When a patient presented to the ED through triage with a chief complaint of chest pain, this protocol allowed the provider-in-triage (PIT) to identify eligible patients for potential rapid admission to the hospital's clinical decision unit (CDU). The PIT would complete a rapid medical screening examination, initiate the patient's workup, and call the CDU providers to further evaluate the patient. By identifying these patients early, the lengthy ED chest pain workup contributing to longer ED LOS could then be completed in the CDU. RESULTS: The total number of patients seen in the ED over the study period was 34,251. The total number of patients admitted to the CDU during the study period was 1,442. The PIT identified 13 patients for rapid admission to the CDU during the study period. These patients had a statistically significant reduction in ED LOS (P < 0.001). ED LOS was also adjusted to identify delays in patient movement resulting in a statistically significant difference (P < 0.001). CONCLUSION: Implementation of a rapid admission protocol for chest pain patients at moderate risk for a major adverse cardiac event resulted in a reduction in ED LOS. Adjusted ED LOS was also significant, highlighting a delay in patient movement from the ED to the CDU indicating continued barriers affecting ED holding times.

9.
Artigo em Inglês | MEDLINE | ID: mdl-31099445

RESUMO

ISSUE ADDRESSED: In recent years, state governments throughout Australia have provided significant funding to support the expansion of school breakfast programs (SBPs), in response to concerns about children arriving at school hungry. This study investigated how schools have responded to the growing expectation that they provide breakfast for students. METHODS: This qualitative study draws on case studies of five Australian primary schools that operate SBPs. Interviews or focus groups were conducted with 78 children, parents, staff, volunteers and funders and data underwent thematic analysis. RESULTS: Three key themes were identified: Adjusting to the changing role of schools, SBPs reflecting the school's culture, Schools as an alternative or additional site for breakfast. Some staff and parents expressed unease about SBPs shifting responsibility for breakfast provision from parents to schools but were committed to supporting vulnerable students as part of the broader school culture. SBPs were found to provide an alternative or additional site for breakfast consumption for many children not experiencing food insecurity. CONCLUSION: The expectation that schools provide breakfast has created some challenges and tensions that have not been fully resolved. The adoption of an inclusive approach, undertaken to ensure students were not stigmatised for attendance, had resulted in concerns about the resources used by the programs as well as over-consumption of breakfast by some students. SO WHAT?: Increasingly, Australian schools are providing breakfast for students. Concerns about shifting responsibility and over-consumption could be addressed if schools were given more advice on program management by government and non-government funding bodies.

10.
Artigo em Inglês | MEDLINE | ID: mdl-30936393

RESUMO

Sleep is important for cognitive ability, and perturbations of sleep are associated with a myriad of brain disorders. However, how sleep promotes health and function during wake is poorly understood. To address the cellular and molecular mechanisms underlying sleep, we use the fruit fly Drosophila melanogaster as a genetic model. Forward genetic approaches in flies were critical for deciphering molecular mechanisms of the circadian clock. Using similar approaches, we and others are gaining insights into the pathways that control sleep amount.

11.
Med Educ Online ; 24(1): 1596708, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30973089

RESUMO

BACKGROUND: Filming teaching sessions were reported in the medical literature in the 1980s and 1990s but appear to have been an underreported and/or underutilized teaching tool since that time. National faculty development programs, such as the Harvard Macy Institute (HMI) Program for Educators in Health Professions and the Stanford Faculty Development Center for Medical Teachers program, have attempted to bridge this gap in formal instruction in teaching skills through microteaching sessions involving videos for self- and peer-assessment and feedback. OBJECTIVE: Current video-feedback faculty development initiatives are time intensive and impractical to implement broadly at an institutional level. Further, results of peer feedback have not been frequently reported in the literature at the institutional level. Our research aims to propose a convenient and effective process for incorporating video analysis into faculty devleopment programs. DESIGN: Our work describes a novel technique using video-recorded, simulated teaching exercises to compile multi-dimensional feedback as an aid in faculty development programs that promote teaching-skill development. This research evaluated the effectiveness of a focused teaching practicum designed for faculty in multiple specialty departments with large numbers of older patients into a geriatrics-based faculty development program. Effectiveness of the practicum is evaluated using quantitative scoring and qualitative analysis of self-reflection as well as peer and trainee input. RESULTS: VOTE sessions demonstrate an important exportable product which enable faculty to receive a detailed 360-degree assessment of their teaching. CONCLUSION: This intervention can be easily replicated and revised, as needed, to fit into the educational curriculum at other academic medical centers.


Assuntos
Educação Médica/organização & administração , Docentes de Medicina/normas , Feedback Formativo , Desenvolvimento de Pessoal/organização & administração , Ensino/organização & administração , Currículo , Educação Médica/normas , Humanos , Desenvolvimento de Programas , Ensino/normas , Gravação em Vídeo
12.
Ann Clin Transl Neurol ; 6(3): 456-465, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30911569

RESUMO

Objective: Genome-wide association studies (GWAS) have identified over 30 susceptibility loci associated with Alzheimer's disease (AD). Using AD GWAS data from the International Genomics of Alzheimer's Project (IGAP), Polygenic Risk Score (PRS) was successfully applied to predict life time risk of AD development. A recently introduced Polygenic Hazard Score (PHS) is able to quantify individuals with age-specific genetic risk for AD. The aim of this study was to quantify the age-specific genetic risk for AD with PRS and compare the results generated by PRS with those from PHS. Methods: Quantification of individual differences in age-specific genetic risk for AD identified by the PRS, was performed with Cox Regression on 9903 (2626 cases and 7277 controls) individuals from the Genetic and Environmental Risk in Alzheimer's Disease consortium (GERAD). Polygenic Hazard Scores were generated for the same individuals. The age-specific genetic risk for AD identified by the PRS was compared with that generated by the PHS. This was repeated using varying SNPs P-value thresholds for disease association. Results: Polygenic Risk Score significantly predicted the risk associated with age at AD onset when SNPs were preselected for association to AD at P ≤ 0.001. The strongest effect (B = 0.28, SE = 0.04, P = 2.5 × 10-12) was observed for PRS based upon genome-wide significant SNPs (P ≤ 5 × 10-8). The strength of association was weaker with less stringent SNP selection thresholds. Interpretation: Both PRS and PHS can be used to predict an age-specific risk for developing AD. The PHS approach uses SNP effect sizes derived with the Cox Proportional Hazard Regression model. When SNPs were selected based upon AD GWAS case/control P ≤ 10-3, we found no advantage of using SNP effects sizes calculated with the Cox Proportional Hazard Regression model in our study. When SNPs are selected for association with AD risk at P > 10-3, the age-specific risk prediction results are not significant for either PRS or PHS. However PHS could be more advantageous than PRS of age specific AD risk predictions when SNPs are prioritized for association with AD age at onset (i.e., powerful Cox Regression GWAS study).

13.
Science ; 363(6426): 509-515, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30705188

RESUMO

Sleep remains a major mystery of biology. In particular, little is known about the mechanisms that account for the drive to sleep. In an unbiased screen of more than 12,000 Drosophila lines, we identified a single gene, nemuri, that induces sleep. The NEMURI protein is an antimicrobial peptide that can be secreted ectopically to drive prolonged sleep (with resistance to arousal) and to promote survival after infection. Loss of nemuri increased arousability during daily sleep and attenuated the acute increase in sleep induced by sleep deprivation or bacterial infection. Conditions that increase sleep drive induced expression of nemuri in a small number of fly brain neurons and targeted it to the sleep-promoting, dorsal fan-shaped body. We propose that NEMURI is a bona fide sleep homeostasis factor that is particularly important under conditions of high sleep need; because these conditions include sickness, our findings provide a link between sleep and immune function.


Assuntos
Peptídeos Catiônicos Antimicrobianos/genética , Proteínas de Drosophila/genética , Drosophila melanogaster/genética , Sistema Imunitário , Sono/fisiologia , Animais , Nível de Alerta/fisiologia , Infecções Bacterianas/imunologia , Encéfalo/fisiologia , Drosophila melanogaster/imunologia , Feminino , Mutação com Ganho de Função , Técnicas de Inativação de Genes , Homeostase , Masculino , Neurônios/fisiologia
14.
Neurobiol Aging ; 73: 82-91, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30339963

RESUMO

Young adult APOE-ε4 carriers show increased activity in posterior regions of the default mode network (pDMN), but how this is related to structural connectivity is unknown. Thirty young adults (one half of whom were APOE-ε4 carriers; mean age 20 years) were scanned using both diffusion and functional magnetic resonance imaging. The parahippocampal cingulum bundle (PHCB)-which links the pDMN and the medial temporal lobe-was manually delineated in individual participants using deterministic tractography. Measures of tract microstructure (mean diffusivity and fractional anisotropy) were then extracted from these tract delineations. APOE-ε4 carriers had lower mean diffusivity and higher fractional anisotropy relative to noncarriers in PHCB, but not in a control tract (the inferior longitudinal fasciculus). Furthermore, PHCB microstructure was selectively associated with pDMN (and medial temporal lobe) activity during a scene discrimination task known to be sensitive to Alzheimer's disease. These findings are consistent with a lifespan view of Alzheimer's disease risk, where early-life, connectivity-related changes in specific, vulnerable "hubs" (e.g., pDMN) lead to increased neural activity. Critically, such changes may reflect reduced network efficiency/flexibility in APOE-ε4 carriers, which in itself may portend a faster decline in connectivity over the lifespan and ultimately trigger early amyloid-ß deposition in later life.

15.
Crit Care Nurs Clin North Am ; 30(4): 431-443, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30447804

RESUMO

Late preterm infants (LPIs) are born between 34 0/7 and 36 6/7 weeks' gestation and account for 72% of all preterm births in the United States. Born as much as 6 weeks early, the LPI misses the critical growth and development specific to the third trimester. The loss of this critical period leaves the LPI physiologically and metabolically immature and prone to various morbidities. Common morbidities include respiratory complications, feeding difficulty, hypoglycemia, temperature instability, hyperbilirubinemia, and neurodevelopmental delays.

16.
Neurobiol Aging ; 72: 188.e3-188.e12, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30201328

RESUMO

Systematic epistasis analyses in multifactorial disorders are an important step to better characterize complex genetic risk structures. We conducted a hypothesis-free sex-stratified genome-wide screening for epistasis contributing to Alzheimer's disease (AD) susceptibility. We identified a statistical epistasis signal between the single nucleotide polymorphisms rs3733980 and rs7175766 that was associated with AD in males (genome-wide significant pBonferroni-corrected=0.0165). This signal pointed toward the genes WW and C2 domain containing 1, aka KIBRA; 5q34 and TLN2 (talin 2; 15q22.2). Gene-based meta-analysis in 3 independent consortium data sets confirmed the identified interaction: the most significant (pmeta-Bonferroni-corrected=9.02*10-3) was for the single nucleotide polymorphism pair rs1477307 and rs4077746. In functional studies, WW and C2 domain containing 1, aka KIBRA and TLN2 coexpressed in the temporal cortex brain tissue of AD subjects (ß=0.17, 95% CI 0.04 to 0.30, p=0.01); modulated Tau toxicity in Drosophila eye experiments; colocalized in brain tissue cells, N2a neuroblastoma, and HeLa cell lines; and coimmunoprecipitated both in brain tissue and HEK293 cells. Our finding points toward new AD-related pathways and provides clues toward novel medical targets for the cure of AD.

18.
Schizophr Res ; 2018 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-29980329

RESUMO

Individuals with severe mental illness (SMI) (schizophrenia-spectrum, bipolar disorder and major depressive disorder) die 10-20 years prematurely due to physical disorders such as cardiovascular disease. Physical activity (PA) is effective in preventing and managing these conditions in the general population, however individuals with SMI engage in substantially less PA and more sedentary behaviour (SB) compared to healthy counterparts. Furthermore, the effectiveness of intervening to increase PA or reduce SB in SMI populations is unknown. Therefore, we systematically reviewed studies measuring changes in PA or SB following behavioural interventions in people with SMI. A systematic search of major databases was conducted from inception until 1/3/2018 for behavioural interventions reporting changes in PA or SB in people with SMI. From 3018 initial hits, 32 articles were eligible, including 16 controlled trials (CT's; Treatment n = 1025, Control n = 1162) and 16 uncontrolled trials (n = 655). Of 16 CTs, seven (47%) reported significant improvements in PA, although only one found changes with an objective measure. Of 16 uncontrolled trials, 3 (20%) found improvements in PA (one with objective measurement). No intervention study had a primary aim of changing SB, nor did any note changes in SB using an objective measure. In conclusion, there is inconsistent and low quality evidence to show that interventions can be effective in changing PA or SB in this population. Future robust randomized controlled trials, using objectively-measured PA/SB as the primary outcome, are required to determine which behavioural interventions are effective in improving the sedentary lifestyles associated with SMI. Systematic review registration- PROSPERO registration number CRD42017069399.

19.
Diabetes Educ ; 44(4): 361-372, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29792133

RESUMO

Purpose The purpose of this study is to evaluate the impact of a collaborative diabetes shared medical appointment on patient outcomes in an urban family medicine practice. Methods Fifty-nine patients were enrolled to participate in multiple shared medical appointments (SMAs) over 12 months. Baseline data included hemoglobin (A1C), lipids, systolic blood pressure (SBP), weight, adherence to American Diabetes Association (ADA) guidelines, and surveys, including the Problem Areas in Diabetes (PAID-2) scale and the Spoken Knowledge in Low Literacy in Diabetes Scale (SKILLD). A1C and SBP were evaluated at each visit. Lipid control was assessed at baseline and at 6 and 12 months. Adherence to ADA guidelines, SKILLD and PAID-2 survey scores, and number of antihyperglycemic and antihypertensive medications were also evaluated at 12 months. Results Thirty-eight patients completed the study. Compared with baseline, A1C and low-density lipoprotein cholesterol (LDL-C) levels decreased significantly over 12 months ( P < .001 and P = .004, respectively). More patients became compliant with the ADA guidelines throughout the course of the study. Specifically, more patients achieved the LDL-C goal of ≤100 mg/dL (2.59 mmol/L; P < .001), were prescribed appropriate antihypertensive medications ( P < .001) and aspirin ( P < .001), and received the pneumonia vaccine ( P < .001). PAID-2 and SKILLD survey scores also significantly improved over the course of the study ( P ≤ .001 and P = .003, respectively). Conclusion Short-term interdisciplinary SMAs decreased A1C and LDL-C, improved patient adherence to ADA guidelines, improved emotional distress related to diabetes, and increased knowledge of diabetes.

20.
Genet Epidemiol ; 42(4): 366-377, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29532500

RESUMO

Polygenic risk scores (PRSs) are a method to summarize the additive trait variance captured by a set of SNPs, and can increase the power of set-based analyses by leveraging public genome-wide association study (GWAS) datasets. PRS aims to assess the genetic liability to some phenotype on the basis of polygenic risk for the same or different phenotype estimated from independent data. We propose the application of PRSs as a set-based method with an additional component of adjustment for linkage disequilibrium (LD), with potential extension of the PRS approach to analyze biologically meaningful SNP sets. We call this method POLARIS: POlygenic Ld-Adjusted RIsk Score. POLARIS identifies the LD structure of SNPs using spectral decomposition of the SNP correlation matrix and replaces the individuals' SNP allele counts with LD-adjusted dosages. Using a raw genotype dataset together with SNP effect sizes from a second independent dataset, POLARIS can be used for set-based analysis. MAGMA is an alternative set-based approach employing principal component analysis to account for LD between markers in a raw genotype dataset. We used simulations, both with simple constructed and real LD-structure, to compare the power of these methods. POLARIS shows more power than MAGMA applied to the raw genotype dataset only, but less or comparable power to combined analysis of both datasets. POLARIS has the advantages that it produces a risk score per person per set using all available SNPs, and aims to increase power by leveraging the effect sizes from the discovery set in a self-contained test of association in the test dataset.


Assuntos
Estudo de Associação Genômica Ampla , Desequilíbrio de Ligação/genética , Herança Multifatorial/genética , Alelos , Simulação por Computador , Humanos , Modelos Genéticos , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Análise de Componente Principal , Fatores de Risco
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