Tag: pubmed

Mov Disord. 2021 Jul 28. doi: 10.1002/mds.28732. Online ahead of print.

ABSTRACT

BACKGROUND: Several monogenic causes for isolated dystonia have been identified, but they collectively account for only a small proportion of cases. Two genome-wide association studies have reported a few potential dystonia risk loci; but conclusions have been limited by small sample sizes, partial coverage of genetic variants, or poor reproducibility.

OBJECTIVE: To identify robust genetic variants and loci in a large multicenter cervical dystonia cohort using a genome-wide approach.

METHODS: We performed a genome-wide association study using cervical dystonia samples from the Dystonia Coalition. Logistic and linear regressions, including age, sex, and population structure as covariates, were employed to assess variant- and gene-based genetic associations with disease status and age at onset. We also performed a replication study for an identified genome-wide significant signal.

RESULTS: After quality control, 919 cervical dystonia patients compared with 1491 controls of European ancestry were included in the analyses. We identified one genome-wide significant variant (rs2219975, chromosome 3, upstream of COL8A1, P-value 3.04 × 10^-8 ). The association was not replicated in a newly genotyped sample of 473 cervical dystonia cases and 481 controls. Gene-based analysis identified DENND1A to be significantly associated with cervical dystonia (P-value 1.23 × 10^-6 ). One low-frequency variant was associated with lower age-at-onset (16.4 ± 2.9 years, P-value = 3.07 × 10^-8 , minor allele frequency = 0.01), located within the GABBR2 gene on chromosome 9 (rs147331823).

CONCLUSION: The genetic underpinnings of cervical dystonia are complex and likely consist of multiple distinct variants of small effect sizes. Larger sample sizes may be needed to provide sufficient statistical power to address the presumably multi-genic etiology of cervical dystonia. © 2021 International Parkinson and Movement Disorder Society.

PMID:34320236 | DOI:10.1002/mds.28732

J Gerontol B Psychol Sci Soc Sci. 2021 Jul 28:gbab141. doi: 10.1093/geronb/gbab141. Online ahead of print.

ABSTRACT

OBJECTIVE: To examine distributional effects of the 2008 recession and subsequent recovery across generational cohorts.

METHODS: Using data from the Survey of Consumer Finances (2007-2016), we constructed a measure of economic well-being accounting for income, household size and annuitized value of assets. We examine trajectories of adjusted income and inequality, using Gini coefficients and income shares by decile, for the overall population and by cohort during the recession and recovery.

RESULTS: Inequality declined temporarily during the recession, but reached new highs during the recovery. During recovery, population-level increases in economic resources were not reflected among below-median households, as the more concentrated financial assets rose while broader-based home equity and employment fell or remained stagnant. Inequality measures increased for cohorts in their primary working years (Generation-X and Baby Boomers), but not among the younger Millennials, who were at early stages of education, workforce entry and household formation.

DISCUSSION: The study illustrates an integrative approach to analyzing cumulative dis/advantage by considering interactions between historically consistent macro-level events, such as economic shocks or policy choices affecting all cohorts, and the persistent life-course processes that tend to increase heterogeneity and inequality as cohorts age over time. Although recovery policies led to rapid recovery of financial asset values, they did not proportionately reach those below the median or their economic resource-types. Results suggest that in a high-inequality environment, recovery policies from economic shocks may need tailoring to all levels of resources in order to achieve more equitable recovery outcomes and prevent exacerbating cohort inequality trajectories.

PMID:34320206 | DOI:10.1093/geronb/gbab141

Neurosurgery. 2021 Jul 28:nyab250. doi: 10.1093/neuros/nyab250. Online ahead of print.

ABSTRACT

BACKGROUND: Carotid endarterectomy (CEA) and carotid artery stenting (CAS) represent options to treat many patients with carotid stenosis. Although randomized trial data are plentiful, estimated rates of morbidity and mortality for both CEA and CAS have varied substantially.

OBJECTIVE: To evaluate rates of adverse outcomes after CAS and CEA in a large national database.

METHODS: We analyzed 84 191 adult patients undergoing elective, nonemergent CAS (n = 81 361) or CEA (n = 2830), from 2011 to 2018, in the American College of Surgeons’ National Surgical Quality Improvement Program database. Odds of adverse outcomes (30-d rates of stroke, myocardial infarction (MI), cardiac arrest, prolonged length of stay (LOS), readmission, reoperation, and mortality) were evaluated in propensity-matched (n = 2821) cohorts through logistic regression.

RESULTS: In the propensity-matched cohorts, CAS had increased odds of periprocedural stroke (odds ratio [OR] 1.97, 95% CI 1.32-2.95) and decreased odds of cardiac arrest (OR 0.33, 95% CI 0.13-0.84) and 30-d reoperation (OR 0.59, 95% CI 0.44-0.80) compared to CEA. Relative odds of MI, prolonged LOS, discharge to destination other than home, 30-d readmission, or 30-d mortality were statistically similar. In the unmatched patient population, rates of adverse outcomes with CEA were constant over time; however, for CAS, rates of stroke increased over time. In both the matched and unmatched patient cohorts, patients 70 yr and older had lower rates of post-procedural stroke with CEA, but not with CAS, compared to younger patients.

CONCLUSION: In a propensity-matched analysis of a large, prospectively collected, national, surgical database, CAS was associated with increased odds of periprocedural stroke, which increased over time. Rates of MI and death were not significantly different between the 2 procedures.

PMID:34320217 | DOI:10.1093/neuros/nyab250

J Natl Cancer Inst. 2021 Jul 28:djab147. doi: 10.1093/jnci/djab147. Online ahead of print.

ABSTRACT

BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.

METHODS: 483 BRCA1 and 1,318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were three versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen-receptor (ER) negative (PRSER-) or ER-positive (PRSER+) breast cancer risk.

RESULTS: PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07-1.83) for BRCA1 and 1.33 (95% CI = 1.16-1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for both BRCA1 (OR = 1.73, 95% CI = 1.28-2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34-1.91) carriers. The estimated breast cancer ORs were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions.

CONCLUSIONS: Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and to inform clinical management.

PMID:34320204 | DOI:10.1093/jnci/djab147

Nucleic Acids Res. 2021 Jul 28:gkab637. doi: 10.1093/nar/gkab637. Online ahead of print.

ABSTRACT

Whole genome bisulphite sequencing (WGBS) permits the genome-wide study of single molecule methylation patterns. One of the key goals of mammalian cell-type identity studies, in both normal differentiation and disease, is to locate differential methylation patterns across the genome. We discuss the most desirable characteristics for DML (differentially methylated locus) and DMR (differentially methylated region) detection tools in a genome-wide context and choose a set of statistical methods that fully or partially satisfy these considerations to compare for benchmarking. Our data simulation strategy is both biologically informed-employing distribution parameters derived from large-scale consortium datasets-and thorough. We report DML detection ability with respect to coverage, group methylation difference, sample size, variability and covariate size, both marginally and jointly, and exhaustively with respect to parameter combination. We also benchmark these methods on FDR control and computational time. We use this result to backend and introduce an expanded version of DMRcate: an existing DMR detection tool for microarray data that we have extended to now call DMRs from WGBS data. We compare DMRcate to a set of alternative DMR callers using a similarly realistic simulation strategy. We find DMRcate and RADmeth are the best predictors of DMRs, and conclusively find DMRcate the fastest.

PMID:34320181 | DOI:10.1093/nar/gkab637

Eur J Orthod. 2021 Jul 28:cjab048. doi: 10.1093/ejo/cjab048. Online ahead of print.

ABSTRACT

OBJECTIVES: This controlled study aimed to evaluate the effects of Herbst therapy on the trabecular structure of the condyle and angulus mandible using fractal dimension analysis (FD-A) accompanied by skeletal cephalometric changes.

MATERIAL AND METHOD: The panoramic and cephalometric radiographs of 30 patients with skeletal Class II malocclusion treated with the Herbst appliance (C II-H group, mean age: 15.23 ± 1.08), 30 patients with skeletal Class II malocclusion that received fixed orthodontic treatment (C II-C group, mean age: 15.73 ± 1.38), and 30 patients with skeletal Class I malocclusion (C I-C group, mean age: 15.90 ± 1.30) were selected. FD-A was performed on the superoposterior region (C-SP) and centre of the condyles (C-C) and the mandibular angulus (Ang) on the panoramic radiographs taken at the pretreatment (T0), intermediate stage of treatment (T1), and posttreatment (T2) timepoints just like cephalometric analysis.

RESULTS: Herbst therapy provided a statistically significant increase in SNB, ANS-Me, Na-Me, S-Go, Co-Gn and a decrease in ANB and overjet (P < 0.05). All skeletal changes remained stable during the fixed appliance treatment after Herbst. The FD values in C-C increased (P < 0.05), and C-SP values decreased (P < 0.05) during Herbst therapy, while after removal of the Herbst appliance, no significant change was observed despite an increase in C-SP. The Ang value did not change during Herbst treatment, but then increased significantly (P < 0.05). There was no significant change in the FD values of the C I-C and C II-C groups at any stage of treatment. The C-C and C-SP changes at T1-T0 period, C-SP and Ang changes at T2-T1 period, and C-C, C-SP, and Ang values at T2-T0 period were found higher in C II-H group compared with the C II-C group significantly (P < 0.05).

CONCLUSION: Herbst therapy changed the trabecular structure of the condyles in different directions at the superoposterior and central regions of the condyles, while the structural complexity of the angulus mandible, which did not change during the Herbst treatment, increased during the fixed orthodontic treatment after Herbst.

PMID:34320187 | DOI:10.1093/ejo/cjab048

Rev Bras Enferm. 2021 Jul 26;74(6):e20210125. doi: 10.1590/0034-7167-2021-0125. eCollection 2021.

ABSTRACT

OBJECTIVE: To evaluate the impact of implementing the SafeCare clinical supervision model on nurses’ job satisfaction and emotional competence profile.

METHODS: This is a quasi-experimental study, with a sample of 28 nurses from a hospital in northern Portugal. A self-administered questionnaire was applied, used as pre and post-test, which included: sociodemographic and professional characterization; “Job Satisfaction Scale”; and “Veiga Emotional Competence Scale”. We conducted descriptive statistical analysis and the Wilcoxon Test.

RESULTS: A significant decrease in the nurses’ satisfaction with hierarchical superior was observed in the post-test. No significant differences were found in the nurses’ job satisfaction and emotional competence after the implementation of the SafeCare Model.

CONCLUSION: The SafeCare Model needs improvement, suggesting increasing the amount of training time administered to nurses and strengthening the healthcare institution’s link to the Model.

PMID:34320147 | DOI:10.1590/0034-7167-2021-0125

Am J Clin Nutr. 2021 Jul 28:nqab251. doi: 10.1093/ajcn/nqab251. Online ahead of print.

ABSTRACT

BACKGROUND: The 2019 Canada’s Food Guide recommends the consumption of lower fat dairy products to reduce saturated fat (SFA) intakes.

OBJECTIVES: The objective of this study was to assess the impact of such recommendation on SFA intake at a population level in Canada.

METHODS: Analyses were conducted based on dietary intakes from the nationally representative 2015 Canadian Community Health Survey-Nutrition (unweighted n = 20,103). Dietary intake was assessed using 24-h dietary recalls. Food-based substitution modeling analyses were conducted by replacing all regular-fat dairy products reported by an equal amount of a corresponding lower fat dairy product. Regular-fat dairy products included milks ≥2% fat, cheeses >25% fat, and yogurts ≥2% fat. Corresponding lower fat replacement products were 1% fat milks, 10-25% fat cheeses, and <2% fat yogurts. The National Cancer Institute method was used to account for within-person variation in dietary intakes.

RESULTS: Replacing all regular-fat dairy products consumed by Canadians (ages ≥2 y) by a corresponding lower fat product reduced the population’s SFA intake from 10.8% of total energy intake (%E; 95% CI: 10.7%, 11.0%) to 10.0%E (95% CI: 9.8%, 10.2%). This reduction was mostly attributable to the milk and cheese substitutions (mean SFA reductions of -0.3%E each). The proportion of the population with an SFA intake <10%E was 34.7% (95% CI: 31.2%, 38.2%) before substitution and 51.5% (95% CI: 47.5%, 55.5%) after substitution.

CONCLUSIONS: This food-based substitution modeling analysis suggests that SFA intakes at a population level are slightly reduced if all regular-fat dairy products consumed by Canadians were replaced by a lower fat dairy product. Approximately half of the population would still consume SFAs in excess of 10%E even if all regular-fat dairy consumed were replaced by lower fat dairy.

PMID:34320157 | DOI:10.1093/ajcn/nqab251

Rev Bras Enferm. 2021 Jul 26;74(6):e20210061. doi: 10.1590/0034-7167-2021-0061. eCollection 2021.

ABSTRACT

OBJECTIVE: To analyze the factors associated with sex without the use of condoms in consumers of sexually explicit media (SEM).

METHODS: Cross-sectional study, with a sample of 172 participants selected and collected through social media. To assess the predictors of unprotected sexual practices, the Poisson regression model was used. Values were expressed as a robust prevalence ratio (PR) with their respective confidence intervals.

RESULTS: There was a statistically significant association between, the use of condoms and the type of scenes that the participants prefer (p = 0.03), the preference for films with scenes involving unprotected sex or even those that do not care about protection (p = 0.02), the type of pornography watched influencing sexual relations (p = 0.017), and the number of scenes seen per week (p = 0.05).

CONCLUSIONS: The lack of condom use was associated with the access to erotic scenes.

PMID:34320146 | DOI:10.1590/0034-7167-2021-0061

Rev Esc Enferm USP. 2021 Jul 26;55:e03757. doi: 10.1590/S1980-220X2020019503757. eCollection 2021.

ABSTRACT

OBJECTIVE: To analyze factors associated with diabetic foot risk in patients with diabetes mellitus assisted in Primary Care.

METHOD: Observational, analytic, and transversal study took place in Teresina, Piauí, with diabetic patients who are assisted in Primary Care. Data collection took place through interviews, foot clinical exams, and medical record analysis. We used the Mann-Whitney, Pearson’s Chi-square and multiple logistic regression statistics tests to analyze the data. The association power among categorical variables was measured by Odds Ratio .

RESULTS: 322 patients participated. Marital status with a partner presented a protection factor (p = 0.007). Risk factors for the development of the diabetic foot are: arterial hypertension (p = 0.045), obesity (p = 0.011), smoking (p = 0.027), not being submitted to follow ups (p = 0.046), inadequate control of capillary blood glucose (p < 0.001), indisposition to the care of the foot (p=0.014), and foot self-exam less frequently (p = 0.040).

CONCLUSION: Sociodemographic, clinical, and self-care aspects interfere in diabetic foot development, highlighting the necessity of effective follow up tracking and educational interventions for patients with diabetes mellitus in Primary Care.

PMID:34320142 | DOI:10.1590/S1980-220X2020019503757