Tag: pubmed

J Genet Couns. 2021 Oct 25. doi: 10.1002/jgc4.1527. Online ahead of print.

ABSTRACT

Expanded carrier screening (ECS) is used to identify individuals and couples at risk for having children with recessive or X-linked genetic conditions; however, personal health risks (PHR) can also be identified through this testing. There is limited data on how genetic counseling regarding PHR from ECS is perceived by the individual, or how they use this information. This study quantitatively surveyed individuals identified with these risks between September 2013 and March 2020. The 30-item survey included the validated Genomics Outcome Scale Short Form, the validated Genetic Counseling Satisfaction Scale, and original questions. Survey topics included pre-test knowledge of the possibility of discovering PHR through testing, satisfaction with pre-test education that addresses potential risks, perceived severity of PHR, empowerment by and understanding of information, anxiety levels related to their PHR, perceived genetic counseling support, and satisfaction with telehealth. A total of 416 completed surveys were analyzed using descriptive statistics, and linear and logistic regressions. The majority of participants were satisfied or extremely satisfied with pre-test education (n = 328; 78.8%) and telehealth (n = 329; 79.1%). However, more participants who were aware of the possibility of identifying PHR through ECS prior to testing were satisfied with pre-test education compared to those who were not aware. Additionally, a lack of prior awareness of PHR was associated with lower empowerment scores (p = .004). Those who were highly satisfied with genetic counseling were more likely to feel empowered and understand the information presented (p = .001). The majority of individuals used their PHR information following their results appointment (n = 391; 94.0%). The results of this study suggest that receiving PHR information was useful and was positively influenced by both pre-test education and the genetic counseling process.

PMID:34695254 | DOI:10.1002/jgc4.1527

Int J Gynaecol Obstet. 2021 Oct 25. doi: 10.1002/ijgo.13984. Online ahead of print.

ABSTRACT

OBJECTIVE: To compare between 200 μg and 800 μg of vaginal misoprostol for cervical ripening prior to operative hysteroscopy.

METHODS: Quadruble-blind randomized clinical trial conducted between November 2019 and September 2020 involving 76 patients undergoing cervical dilatation prior to surgical hysteroscopy at teaching hospitals in Pernambuco, Brazil. Women received the vaginal misoprostol dosage of 200 μg or 800 μg,10-12 hours before operative hysteroscopy. The cervical width was the primary outcome, and the secondaries were patient’s satisfaction, side effects, surgical complications and duration of cervical dilatation. Chi-square tests of association, Fisher’s exact and Mann-Whitney tests were used with an alpha error of less than 5%.

RESULTS: There was no statistical difference between the groups in the mean of the cervical width (800 μg: 6.5 ± 1.6mm versus 200 μg: 5.8 ± 1.8mm, p=0.055), patient’s satisfaction and surgical findings except for the duration of cervical dilatation, that was lower in the 800 μg group (28.16 ± 28.5s versus 41.97 ± 31.0s, p=0.035). Among the side effects, diarrhea was more frequent in 800 μg group with statistical difference (100% versus 0%; p=0.01).

CONCLUSION: For cervical ripening, 200 μg misoprostol is equally effective with less adverse effects than 800 μg before operative hysteroscopy.

PMID:34695232 | DOI:10.1002/ijgo.13984

Scand J Med Sci Sports. 2021 Oct 25. doi: 10.1111/sms.14085. Online ahead of print.

ABSTRACT

Physical activity (PA) is a complex human behaviour, which implies that multiple dimensions need to be taken into account in order to reveal a complete picture of the PA behaviour profile of an individual. This scoping review aimed to map advanced analytical methods and their summary variables, hereinafter referred to as wearable-specific indicators of PA behaviour (WIPAB), used to assess PA behaviour. The strengths and limitations of those indicators as well as potential associations with certain health-related factors were also investigated. Three databases (MEDLINE, Embase and Web of Science) were screened for articles published in English between January 2010 and April 2020. Articles, which assessed the PA behaviour, gathered objective measures of PA using tri-axial accelerometers and investigated WIPAB were selected. All studies reporting WIPAB in the context of PA monitoring were synthesised and presented in four summary tables: study characteristics, details of the WIPAB, strengths and limitations, and measures of association between those indicators and health-related factors. In total, 7247 records were identified, of which 24 articles were included after assessing titles, abstracts and full-texts. Thirteen WIPAB were identified, which can be classified into three different categories specifically focussing on 1) the activity intensity distribution, 2) activity accumulation and 3) the temporal correlation and regularity of the acceleration signal. Only five of the thirteen WIPAB identified in this review have been used in the literature so far to investigate the relationship between PA behaviour and health, while they may provide useful additional information to the conventional PA variables.

PMID:34695249 | DOI:10.1111/sms.14085

Bioinformatics. 2021 Oct 25;37(20):3514-3520. doi: 10.1093/bioinformatics/btab223.

ABSTRACT

MOTIVATION: Gene-environment interaction (GEI) studies are a general framework that can be used to identify genetic variants that modify the effects of environmental, physiological, lifestyle or treatment effects on complex traits. Moreover, accounting for GEIs can enhance our understanding of the genetic architecture of complex diseases and traits. However, commonly used statistical software programs for GEI studies are either not applicable to testing certain types of GEI hypotheses or have not been optimized for use in large samples.

RESULTS: Here, we develop a new software program, GEM (Gene-Environment interaction analysis in Millions of samples), which supports the inclusion of multiple GEI terms, adjustment for GEI covariates and robust inference, while allowing multi-threading to reduce computation time. GEM can conduct GEI tests as well as joint tests of genetic main and interaction effects for both continuous and binary phenotypes. Through simulations, we demonstrate that GEM scales to millions of samples while addressing limitations of existing software programs. We additionally conduct a gene-sex interaction analysis on waist-hip ratio in 352 768 unrelated individuals from the UK Biobank, identifying 24 novel loci in the joint test that have not previously been reported in combined or sex-specific analyses. Our results demonstrate that GEM can facilitate the next generation of large-scale GEI studies and help advance our understanding of the genetic architecture of complex diseases and traits.

AVAILABILITY AND IMPLEMENTATION: GEM is freely available as an open source project at https://github.com/large-scale-gxe-methods/GEM.

SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

PMID:34695175 | DOI:10.1093/bioinformatics/btab223

Eur J Prev Cardiol. 2021 Oct 25;28(13):1445-1451. doi: 10.1177/2047487320915342.

ABSTRACT

AIMS: Cumulative blood pressure (BP) is a measure that incorporates the severity and duration of BP exposure. The prognostic significance of cumulative BP in young adults for cardiovascular diseases (CVDs) in comparison to BP severity alone is, however, unclear.

METHODS AND RESULTS: We investigated 3667 Coronary Artery Risk Development in Young Adults participants who attended six visits over 15 years (year-0 (1985-1986), year-2, year-5, year-7, year-l0, and year-15 exams). Cumulative BP was calculated as the area under the curve (mmHg × years) from year 0 through year 15. Cox models assessed the association between cumulative BP (year 0 through year 15), current BP (year 15), and BP change (year 0 and year 15) and CVD outcomes. Mean (standard deviation) age at year 15 was 40.2 (3.6) years, 44.1% were men, and 44.1% were African-American. Over a median follow-up of 16 years, there were 47 heart failure (HF), 103 coronary heart disease (CHD), 71 stroke, and 191 CVD events. Cumulative systolic BP (SBP) was associated with HF (hazard ratio (HR) = 2.14 (1.58-2.90)), CHD (HR = 1.49 (1.19-1.87)), stroke (HR = 1.81 (1.38-2.37)), and CVD (HR = 1.73 (1.47-2.05)). For CVD, the C-statistic for SBP (year 15) was 0.69 (0.65-0.73) and change in C-statistic with the inclusion of SBP change and cumulative SBP was 0.60 (0.56-0.65) and 0.72 (0.69-0.76), respectively. For CVD, using year-15 SBP as a reference, the net reclassification index (NRI) for cumulative SBP was 0.40 (p < 0.0001) and the NRI for SBP change was 0.22 (p = 0.001).

CONCLUSIONS: Cumulative BP in young adults was associated with the subsequent risk of HF, CHD, stroke, and CVD. Cumulative BP provided incremental prognostic value and improved risk reclassification for CVD, when compared to single BP assessments or changes in BP.

PMID:34695218 | DOI:10.1177/2047487320915342

PLoS One. 2021 Oct 25;16(10):e0258827. doi: 10.1371/journal.pone.0258827. eCollection 2021.

ABSTRACT

BACKGROUND: Mental health problems follow a distinct socio-economic gradient and contribute to the health inequalities. The study aims to analyse the socio-economic and demographic factors of self-reported mental health complaints (stress, depressiveness, overtiredness, suicidal thoughts) among employed adult population in Estonia.

METHODS: Data on 4041 employed respondents (2064 men and 1977 women) aged 20-64 years from nationally representative health surveys from years 2016 and 2018 in Estonia were used for the study. Dependent variables included self-reported stress, depressiveness, overtiredness, and suicidal thoughts. Descriptive statistics and both log-binomial and Poisson regression analysis were used to describe the socio-economic and demographic variations in these mental health complaints.

RESULTS: More than half of the respondents had either stress, depressiveness, overtiredness or suicidal thoughts with 25% reporting two or more of mental health complaints. Lower personal income was associated with higher rates of all mental health complaints (stress, depressiveness, overtiredness, and suicidal thoughts) among employed adults in Estonia. Additionally, lower education was associated with higher prevalence of depressiveness and lower job skills predicted higher prevalence of suicidal thoughts. Higher prevalence ratios for depressiveness and overtiredness were found for women compared to men whereas Estonians had higher prevalence ratios for stress and suicidal thoughts compared to non-Estonians. All mental health complaints were more frequently reported at younger ages (compared to 50-64-year olds) and by not married or cohabiting respondents.

CONCLUSION: High prevalence of mental health complaints and their socio-economic and demographic patterning refer to considerable inequalities in mental health among employed adults. Policy actions targeting especially younger adults and those with financial difficulties are needed to address these early manifestations of mental health problems.

PMID:34695142 | DOI:10.1371/journal.pone.0258827

PLoS One. 2021 Oct 25;16(10):e0258764. doi: 10.1371/journal.pone.0258764. eCollection 2021.

ABSTRACT

BACKGROUND: Parents play a key role in providing nurturance and nurturing care to their child during the first 1000 days which is important for optimal child development. Various factors have been found to influence parenting but the contribution of these factors toward parental nurturance within the first 1000 days is not yet known in the South African context. This paper describes a protocol for a project that aims to develop a logic model of change for the determinants of parental nurturance in the first 1000 days in the South African context.

METHOD: This study will apply a mixed methods approach with a sequential design within an intervention mapping framework. The study will occur in two phases. The first phase will identify the problem, which will be done via a scoping review, a policy review and a needs assessment for parents and stakeholders. This phase will recruit approximately 35 participants (20 parents and 15 stakeholders) for the qualitative component and then approximately 398 participants for the quantitative component. Data will be collected via semi-structured interviews and with questionnaires (Home Observation for Measurement of the Environment Inventory, the Depression and Anxiety Scale, and the Multidimensional Perceived Social Support Scale). Data will be thematically analysed, and the Statistical Package for Social Science (SPSS) will be used to determine descriptive statistics, both of which will inform the development of the model in phase 2. The second phase will be the development of a logic model of change for determinants for parental nurturance in the first thousand days. This phase will consist of one stage- a consensus workshop which will be attended by approximately 20 participants (5 parents, 5 pregnant woman/new mothers, and 10 stakeholders). The data collected in this stage will be thematically analysed and will contribute to the refinement of the model.

DISCUSSION: The first thousand days (FTD) is a period in which rapid growth occurs in all domains of development. If children do not receive sensitive and responsive care in an environment that is conducive for their optimal development, children may not reach their full developmental potential.

PMID:34695150 | DOI:10.1371/journal.pone.0258764

PLoS Med. 2021 Oct 25;18(10):e1003844. doi: 10.1371/journal.pmed.1003844. Online ahead of print.

ABSTRACT

Florian Naudet and co-authors discuss strengthening requirements for sharing clinical trial data.

PMID:34695113 | DOI:10.1371/journal.pmed.1003844

PLoS One. 2021 Oct 25;16(10):e0257942. doi: 10.1371/journal.pone.0257942. eCollection 2021.

ABSTRACT

INTRODUCTION: Depression is a commonly overwhelming problem among patients with epilepsy which compromises their quality of life especially in developing countries. Previously limited studies were conducted using Becks Depression Inventory tool in Ethiopia. The aim of this study’s objective was to determine the prevalence of depression and associated factors among patients with epilepsy.

METHODS: Institution based cross-sectional study was employed at the University of Gondar Comprehensive Specialized Hospital from March 01-30, 2019.A total of 370 participants were selected using an interview administered structured questionnaire. Hospital Anxiety and Depression Scale was used to assess the prevalence of depression.Multivariable logistic regression analysis was done to investigate potential predictors and variables with a P-value of < 0.05 and a 95% confidence interval were considered statistically significant.

RESULTS: A total of 370 study participants participated with a response rate of 92%. From the total respondents 37% experienced depression. Perceived stigma (AOR = 3.89, CI: 2.27, 6.68), educational status (AOR = 0.48, CI: 0.25, 0.92), residence (AOR = 0.5, CI: 0.28, 0.89), frequency of seizure (AOR = 2.07, CI: 1.01, 4.23) and social support (AOR = 2.73, CI: 1.41-5.31) were significantly associated with depression status.

CONCLUSION: This study revealed that prevalence of depression among Epileptic patients was high. Perceived stigma, educational status, residence, frequency of seizure and social support were significantly associated with depression status. Thus, health care workers better to give more emphasis to patients with perceived stigma, higher number of seizure frequency and to those with poor level of social support.

PMID:34695130 | DOI:10.1371/journal.pone.0257942

PLoS Comput Biol. 2021 Oct 25;17(10):e1009524. doi: 10.1371/journal.pcbi.1009524. Online ahead of print.

ABSTRACT

A key benefit of long-read nanopore sequencing technology is the ability to detect modified DNA bases, such as 5-methylcytosine. The lack of R/Bioconductor tools for the effective visualization of nanopore methylation profiles between samples from different experimental groups led us to develop the NanoMethViz R package. Our software can handle methylation output generated from a range of different methylation callers and manages large datasets using a compressed data format. To fully explore the methylation patterns in a dataset, NanoMethViz allows plotting of data at various resolutions. At the sample-level, we use dimensionality reduction to look at the relationships between methylation profiles in an unsupervised way. We visualize methylation profiles of classes of features such as genes or CpG islands by scaling them to relative positions and aggregating their profiles. At the finest resolution, we visualize methylation patterns across individual reads along the genome using the spaghetti plot and heatmaps, allowing users to explore particular genes or genomic regions of interest. In summary, our software makes the handling of methylation signal more convenient, expands upon the visualization options for nanopore data and works seamlessly with existing methylation analysis tools available in the Bioconductor project. Our software is available at https://bioconductor.org/packages/NanoMethViz.

PMID:34695109 | DOI:10.1371/journal.pcbi.1009524