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Investigation of associations between apolipoprotein A5 and C3 gene polymorphisms with plasma triglyceride and lipid levels

Rev Assoc Med Bras (1992). 2023 Mar 10;69(3):415-420. doi: 10.1590/1806-9282.20221016. eCollection 2023.

ABSTRACT

OBJECTIVE: The aim of this study was to determine frequency and associations between APOA5 c.56C>G, -1131T>C, c.553G>T, and APOC3 -482C>T and SstI gene polymorphisms with hypertriglyceridemia.

METHODS: Under a case-control study model, 135 hypertriglyceridemic and 178 normotriglyceridemic control participants were recruited. Polymerase chain reaction and restriction fragment length polymorphism methods were utilized for genotyping. Statistical calculations were performed by comparing allele and genotype frequencies between groups. Clinical characteristics were compared between groups and intra-group genotypes.

RESULTS: APOC3 gene -482C>T and SstI polymorphic genotypes and allele frequencies were significantly higher in hypertriglyceridemic group (genotype frequencies, p=0.035, p=0.028, respectively). Regression analysis under unadjusted model confirmed that APOC3 -482C>T and SstI polymorphisms were significantly contributing to have hypertriglyceridemia (p=0.02, odds ratio [OR]=1.831 (95% confidence interval [CI] 1.095-3.060); p=0.04, OR=1.812 (1.031-3.183), respectively). APOA5 c.56C>G was in complete linkage disequilibrium with APOA5 c.553G>T polymorphism (D’=1).

CONCLUSION: For the first time in a population sample from Turkey, among the five polymorphisms of APOA5 and APOC3 genes investigated, APOC3 -482C>T and SstI polymorphisms were associated with elevated serum TG levels, while APOA5 c.56C>G, -1131T>C, and c.553G>T polymorphisms were not.

PMID:36921196 | DOI:10.1590/1806-9282.20221016

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Toxic stress on a pediatric population during the COVID-19 pandemic

Rev Paul Pediatr. 2023 Mar 13;41:e2021399. doi: 10.1590/1984-0462/2023/41/2021399. eCollection 2023.

ABSTRACT

OBJECTIVE: The aim of this study was to analyze the impact of social isolation as a result of the coronavirus-19 disease (COVID-19) pandemic in children and adolescents aged 0-17 years in Southern Brazil.

METHODS: This is a cross-sectional study in which 542 questionnaires answered by parents or legal guardians of children and adolescents aged 0-17 years residing in the Brazilian South region, through Google Forms®. Questionnaires answered incompletely or from children outside the stipulated age group and from other regions of the country were excluded from the research. The collected data were organized into descriptive and association tables containing absolute and relative frequencies, medians, averages, standard deviations, quartile deviations, average, and proportion estimates in the form of 95% confidence intervals and the result of the chi-square test of independence. Data analysis was fulfilled with the application aid of Microsoft Excel 2016 and Epi Info version 7.2.1.0 of 01/27/2017. Statistically significant associations were considered when p<0.05.

RESULTS: There was an increase in the perception of nervousness (62.7%), anxiety (67.7%), and sadness (51.3%) in children and adolescents during the pandemic period. This study evidenced a high prevalence of screens overuse (50.9%) and sedentary lifestyle (39.1%) in this age group during the period. Furthermore, the occurrence of regressive behaviors occurred more frequently in the age group of 3-6 years (57.1%) and between 7 and 10 years (44.6%).

CONCLUSIONS: It is inferred from this study that one of the implications resulting from the pandemic period is the increase of toxic stress in the pediatric population.

PMID:36921169 | DOI:10.1590/1984-0462/2023/41/2021399

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Smoking in adolescents with cleft lip and/or palate: prevalence and associated factors

Rev Paul Pediatr. 2023 Mar 13;41:e2021316. doi: 10.1590/1984-0462/2023/41/2021316. eCollection 2023.

ABSTRACT

OBJECTIVE: To assess the prevalence and factors associated with smoking in adolescents with cleft lip and/or palate.

METHODS: This is a cross-sectional study, developed in a Brazilian public and tertiary hospital between November 2018 and August 2019. Adolescents aged between 12 and 19 years old, previously submitted to cheiloplasty and/or palatoplasty surgeries were included. Data collection was carried out through interviews, guided by questionnaires referring to sociodemographic issues, use and factors associated with smoking. For statistical analysis, Fisher’s Exact Test, Chi-square, Student’s t test and bivariate logistic regression were used, all with a significance level of 5% (p≤0.05).

RESULTS: 102 adolescents participated. The prevalence of smoking was 20.6% (n=21). Having cleft lip and palate was associated with smoking (p=0.012). The bivariate analysis showed that not dating (p=0.001; OR=0.19) and owning a home (p=0.032; OR=0.33) were configured as protective factors for the act of being a smoker, while believing that smoking facilitates interaction with young people or with the group of friends (p=0.043; OR=2.95), having friends who use alcoholic beverages (p=0.002; OR=8.40), having friends who use drugs, except cigarettes (p=0.002; OR=5.33), use alcoholic beverages (p<0.001; OR=10.67) and sexual initiation (p<0.001; OR=7.00), were associated with being a smoker.

CONCLUSIONS: From the knowledge of the profile of adolescents most vulnerable to tobacco use, it is possible to plan and implement educational and preventive actions.

PMID:36921164 | DOI:10.1590/1984-0462/2023/41/2021316

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Impact of COVID-19’s on Cardiovascular Rehabilitation Programs in Brazil: An Online Survey-Based Cross-Sectional Study

Arq Bras Cardiol. 2023 Mar 10;120(3):e20220135. doi: 10.36660/abc.20220135. eCollection 2023.

ABSTRACT

BACKGROUND: The COVID-19 pandemic had an impact on cardiovascular rehabilitation (CR) programs in Brazil.

OBJECTIVES: To describe the characteristics of CR programs in Brazil, the impacts of the first epidemiological wave of COVID-19 (first 60 days) on the programs and present the initiatives used to overcome the impacts.

METHOD: This cross-sectional and retrospective study utilized a specific online survey. Participants were coordinators of CR programs. Variables were presented by Brazilian geographic region and as the following categories: demographic, clinical and operational characteristics. The significance level for statistical analysis was set at 5%.

RESULTS: Fifty-nine CR programs were responsible for 5,349 patients, of which only 1,817 were post-acute cardiovascular events, which corresponded to 1.99% of hospitalized patients in the month prior to the survey (n=91,231). The greatest impact was the suspension of on-site activities, which occurred similarly in areas with the highest and the lowest rates of COVID-19 in the period. Forty-five programs (75%) were shortly interrupted, while three (5%) were ended. All 42 programs that already used remote rehabilitation strategies noticed a substantial increase in activities, based primarily on the use of media and video calling. Only three (5%) considered safe to see patients during the first 60 days.

CONCLUSIONS: There was a reduction in the number of CR programs with the COVID-19 pandemic. Telerehabilitation activities increased during the first two months of the COVID-19 pandemic, but this was not enough to overcome the reduction in CR program activities across Brazil.

PMID:36921154 | DOI:10.36660/abc.20220135

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Comparative analysis of the trauma care profile before and during the COVID-19 pandemic: a cross-sectional study in a tertiary university hospital

Rev Col Bras Cir. 2023 Mar 10;50:e20233449. doi: 10.1590/0100-6991e-20233449-en. eCollection 2023.

ABSTRACT

OBJECTIVES: to evaluate the profile of emergency care of trauma patients at Hospital Universitário Evangélico Mackenzie (HUEM) during the period of restrictive measures due to COVID-19 (03/13/2021 to 04/05/2021), and compare to the same period at the beginning of the pandemic, in 2020, and before the pandemic, in 2019.

METHODS: quantitative and descriptive observational cross-sectional study. The final sample of 8,338 was analyzed in terms of date, gender, age and service responsible for providing care; the traumas were analyzed according to the etiology and conduct of the treatment and outcome.

RESULTS: there was a percentage increase in non-traumatic emergency care during the pandemic, and the medical clinic held a third of admissions in 2021. There was a reduction in trauma care, since in 2019 traumas were responsible for 44.9% of admissions and by 23.5% in 2021. There was a significant difference in the proportion between the attendance of men and women, and the percentage of men victims of trauma was higher than in the pre-pandemic periods. There was a reduction in absolute numbers, with statistical significance, in traffic accidents, falls from the same level, burns, general blunt trauma and sports and leisure trauma. The proportion of conservative treatments with hospital discharge reduced. There was a significant difference in the number of deaths, decreasing in 2020 but increasing in 2021.

CONCLUSION: there was a reduction in trauma care during the pandemic, but the profile remained the adult male victim of a traffic accident. More severe traumas were admitted, resulting in an increase in surgical treatment, hospitalizations and deaths.

PMID:36921134 | DOI:10.1590/0100-6991e-20233449-en

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Breaking Up Evening Sitting with Resistance Activity Improves Postprandial Glycemic Response: A Randomized Crossover Study

Med Sci Sports Exerc. 2023 Mar 10. doi: 10.1249/MSS.0000000000003166. Online ahead of print.

ABSTRACT

INTRODUCTION: Interrupting sedentary time during the day reduces postprandial glycemia (a risk factor for cardio-metabolic disease). However, it is not known if benefits exist for postprandial glucose, insulin and triglyceride responses in the evening, and if these benefits differ by BMI category.

METHODS: In a randomized crossover study, 30 participants (aged 25.4 ± 5.4 years; BMI 18.5-24.9: n = 10, BMI 25-29.9: n = 10, BMI ≥30: n = 10), completed two intervention arms, beginning at ~1700 h: prolonged sitting for 4 h; and sitting with regular activity breaks of 3 min of resistance exercises every 30 min. Plasma glucose, insulin, and triglyceride concentrations were measured in response to two meals fed at baseline and 120 min. Four-hour incremental area under the curve (iAUC) was compared between interventions. Moderation by BMI status was explored.

RESULTS: Overall, when compared to prolonged sitting, regular activity breaks lowered plasma glucose and insulin iAUC by 31.5% (95% CI -49.3% to -13.8%) and 26.6% (-39.6% to -9.9%), respectively. No significant differences were found for plasma triglyceride AUC. Interactions between BMI status and intervention was not statistically significant.

CONCLUSIONS: Interventions that interrupt sedentary time in the evening may improve cardiometabolic health by some magnitude in all participants regardless of bodyweight.

PMID:36921112 | DOI:10.1249/MSS.0000000000003166

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Comparative effectiveness of different hepatocellular carcinoma screening intervals or modalities: a systematic review and meta-analysis

Chin Med J (Engl). 2023 Mar 15. doi: 10.1097/CM9.0000000000002341. Online ahead of print.

ABSTRACT

BACKGROUND: Current guidelines recommend hepatocellular carcinoma (HCC) screening in high-risk populations. However, the ideal HCC screening interval and screening modality have not been determined. This study aimed to compare the screening efficacy among different modalities with various intervals.

METHODS: PubMed and other nine databases were searched through June 30, 2021. Binary outcomes were pooled using risk ratio (RR) with 95% confidence intervals (CIs). Survival rates were also pooled using RR with 95% CIs because most eligible studies only provided the number of survival patients instead of hazard ratio.

RESULTS: In all, 13 studies were included. Two random controlled trials (RCTs) and six cohort studies compared screening intervals for ultrasonography (US) screening and found no differences between shorter (3- or 4-month) and longer (6- or 12-month) screening intervals in terms of early HCC proportion, HCC Significant mortality, 1-year survival rate; screening at 6-month interval significantly increased the proportion of early HCC (RR = 1.17, 95% CI: 1.08-1.26) and prolonged the 5-year survival rate (RR = 1.39, 95% CI: 1.07-1.82) relative to the 12-month interval results. Three other RCTs and two cohort studies compared different screening modalities in cirrhosis or chronic hepatitis B, which indicated no statistical differences in the proportion of early HCC (RR = 0.89, 95% CI: 0.40-1.96) and HCC mortality (RR = 0.69, 95% CI: 0.23-2.09) between the biannual US and annual computed tomography (CT screening). Biannual US screening showed a lower proportion of early HCC than biannual magnetic resonance imaging (MRI) (RR = 0.60, 95% CI: 0.37-0.97) and biannual US combined with annual CT (RR = 1.31, 95% CI: 1.13-1.51) screening. The proportion of early HCC in the contrast-enhanced US group was slightly higher than that in the B-mode US (RR = 1.08, 95% CI: 1.00-1.23) group.

CONCLUSIONS: The evidence suggests that 6 months may be the best HCC screening interval for US screening. The effectiveness of CT and MRI is better than US during same screening intervals. However, MRI and CT are more expensive than US, and CT also can increase the risk of radiation exposure. The selection of CT or MRI instead of US should be carefully considered.

PMID:36921104 | DOI:10.1097/CM9.0000000000002341

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Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole Genome Analysis of 7,840 Patients

Am J Respir Crit Care Med. 2023 Mar 15. doi: 10.1164/rccm.202209-1653OC. Online ahead of print.

ABSTRACT

RATIONALE: Lung disease is the major cause of morbidity and mortality in persons with cystic fibrosis (pwCF). Variability in CF lung disease has substantial non-CFTR genetic influence. Identification of genetic modifiers has prognostic and therapeutic importance.

OBJECTIVES: Identify genetic modifier loci and genes/pathways associated with pulmonary disease severity.

METHODS: Whole genome sequencing (WGS) data on 4,248 unique pwCF with pancreatic insufficiency (PI) and lung function measures were combined with imputed genotypes from an additional 3,592 PI patients from the US, Canada, and France. This report describes association of ~15.9 million single nucleotide polymorphisms (SNPs), using the quantitative Kulich Normal Residual Mortality Adjusted (KNoRMA) lung disease phenotype in 7,840 pwCF using pre-modulator lung function data.

MEASUREMENTS AND MAIN RESULTS: Testing included common and rare SNPs, transcriptome-wide association, gene level, and pathway analyses. Pathway analyses identified novel associations with genes that have key roles in organ development, and we hypothesize these genes may relate to dysanapsis and/or variability in lung repair. Results confirmed and extended previous GWAS findings. These WGS data provide finely mapped genetic information to support mechanistic studies. No novel primary associations with common single variants or with rare variants were found. Multi-locus effects at chr5p13 (SLC9A3/CEP72) and chr11p13 (EHF/APIP) were identified. Variant effect size estimates at associated loci were consistently ordered across the cohorts, indicating possible age or birth cohort effects.

CONCLUSIONS: This pre-modulator genomic, transcriptomic, and pathway association study of 7,840 pwCF will facilitate mechanistic and post-modulator genetic studies and, development of novel therapeutics for CF lung disease.

PMID:36921087 | DOI:10.1164/rccm.202209-1653OC

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Exploring the intersectionality of characteristics among those who experienced opioid overdoses: A cluster analysis

Health Rep. 2023 Mar 15;34(3):3-14. doi: 10.25318/82-003-x202300300001-eng.

ABSTRACT

BACKGROUND: As Canada continues to experience an opioid crisis, it is important to understand the intersection between the demographic, socioeconomic and service use characteristics of those experiencing opioid overdoses to better inform prevention and treatment programs.

DATA AND METHODS: The Statistics Canada British Columbia Opioid Overdose Analytical File (BCOOAF) represents people’s opioid overdoses between January 2014 and December 2016 (n = 13,318). The BCOOAF contains administrative health data from British Columbia linked to Statistics Canada data, including on health, employment, social assistance and police contacts. Cluster analysis was conducted using the k-prototypes algorithm.

RESULTS: The results revealed a six-cluster solution, composed of three groups (A, B and C), each with two distinct clusters (1 and 2). Individuals in Group A were predominantly male, used non-opioid prescription medications and had varying levels of employment. Individuals in Cluster A1 were employed, worked mostly in construction, had high incomes and had a high rate of fatal overdoses, while individuals in Cluster A2 were precariously employed and had varying levels of income. Individuals in Group B were predominantly female; were mostly taking prescription opioids, with about one quarter or less receiving opioid agonist treatment (OAT); mostly had precarious to no employment; and had low to no income. People in Cluster B1 were primarily middle-aged (45 to 65 years) and on social assistance, while people in Cluster B2 were older, more frequently used health services and had no social assistance income. Individuals in Group C were primarily younger males aged 24 to 44 years, with higher prevalence of having experienced multiple overdoses, were medium to high users of health care services, were mostly unemployed and were recipients of social assistance. Most had multiple contacts with police. Those in Cluster C1 predominantly had no documented use of prescription opioid medications, and all had no documented OAT, while all individuals in Cluster C2 were on OAT.

INTERPRETATION: The application of machine learning techniques to a multidimensional database enables an intersectional approach to study those experiencing opioid overdoses. The results revealed distinct patient profiles that can be used to better target interventions and treatment.

PMID:36921072 | DOI:10.25318/82-003-x202300300001-eng

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Effect of trunk flexion angle and time on lumbar and abdominal muscle activity while wearing a passive back-support exosuit device during simple posture-maintenance tasks

Ergonomics. 2023 Mar 15:1-28. doi: 10.1080/00140139.2023.2191908. Online ahead of print.

ABSTRACT

Quantifying the trunk flexion angles at which wearable support systems (exoskeletons/exosuits) provide substantial trunk extension moment during posture maintenance tasks (such as those seen in surgical environments) can provide a deeper understanding of this potential intervention strategy. Understanding how time (i.e., adaptation/learning) might impact the reliance on wearable support is also of value. Sixteen participants were asked to maintain specific trunk flexion angles (range 0°- 60°) with and without an exosuit system while erector spinae and rectus abdominis muscle activity were captured using surface electromyography. The effects of the exosuit showed a statistically significant (p < 0.007) effect on the activity of the erector spinae muscles at 10°-60° – an effect that became ‘large’ (Cohen’s d = 0.87) after 20° of trunk flexion. There were no meaningful time-dependent trends in the levels of muscle activation indicating there was no adaptation/learning effect of the exosuit in the task studied.

PMID:36921063 | DOI:10.1080/00140139.2023.2191908