Tag: nevin manimala

Adv Rheumatol. 2023 Apr 20;63(1):16. doi: 10.1186/s42358-023-00302-6.

ABSTRACT

BACKGROUND: The prevalence of HLA-B27 gene positivity in healthy Caucasian communities varies between 8 and 14%. However, there is a lack of information in countries with a high rate of miscegenation, such as Brazil.

AIM: To estimate the frequency of HLA-B27 in the Brazilian general population using a large national registry database.

METHODS: This is a cross-sectional ecological study using the Brazilian Registry of Volunteer Bone Marrow Donors (REDOME) database on HLA-B27 allelic frequency and proportion of positives of healthy donors (18-60 years old). Data were analyzed according to sex, age, race (by self-reported skin color recommended by the Brazilian Institute of Geography and Statistics – IBGE), and geographic region of residence.

RESULTS: From 1994 to 2022, a total of 5,389,143 healthy bone marrow donors were included. The overall positivity for HLA-B27 was 4.35% (CI 95% 4.32-4.37%), regardless of sex and age (57.2% were women, mean age was 41.7yo). However, there was a difference between races: 4.85% in Whites; 2.92% in Blacks; 3.76% in Pardos (Browns i.e. mixed races); 3.95% in Amarelos (Yellows i.e. Asian Brazilians); and 3.18% in Indigenous. There was also a difference regarding geographic region of residence (North: 3.62%; Northeast: 3.63%; Southeast: 4.29%; Midwest: 4.5% and 5.25% in South). The homozygosity rate for the HLA-B27 was 1.32% of all the positives and only 0.06% in the general population.

CONCLUSIONS: Our findings provide the first Brazilian national prevalence for HLA-B27 in 4.35%. There is a gradient gene positivity from North to South, suggesting that the genetic background related to the miscegenation due to colonization, slavery, and some later waves of immigration together with internal migratory flows, could explain our findings.

PMID:37081582 | DOI:10.1186/s42358-023-00302-6

Microbiome. 2023 Apr 20;11(1):80. doi: 10.1186/s40168-023-01530-0.

ABSTRACT

BACKGROUND: Understanding human genetic influences on the gut microbiota helps elucidate the mechanisms by which genetics may influence health outcomes. Typical microbiome genome-wide association studies (GWAS) marginally assess the association between individual genetic variants and individual microbial taxa. We propose a novel approach, the covariate-adjusted kernel RV (KRV) framework, to map genetic variants associated with microbiome beta-diversity, which focuses on overall shifts in the microbiota. The KRV framework evaluates the association between genetics and microbes by comparing similarity in genetic profiles, based on groups of variants at the gene level, to similarity in microbiome profiles, based on the overall microbiome composition, across all pairs of individuals. By reducing the multiple-testing burden and capturing intrinsic structure within the genetic and microbiome data, the KRV framework has the potential of improving statistical power in microbiome GWAS.

RESULTS: We apply the covariate-adjusted KRV to the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) in a two-stage (first gene-level, then variant-level) genome-wide association analysis for gut microbiome beta-diversity. We have identified an immunity-related gene, IL23R, reported in a previous microbiome genetic association study and discovered 3 other novel genes, 2 of which are involved in immune functions or autoimmune disorders. In addition, simulation studies show that the covariate-adjusted KRV has a greater power than other microbiome GWAS methods that rely on univariate microbiome phenotypes across a range of scenarios.

CONCLUSIONS: Our findings highlight the value of the covariate-adjusted KRV as a powerful microbiome GWAS approach and support an important role of immunity-related genes in shaping the gut microbiome composition. Video Abstract.

PMID:37081571 | DOI:10.1186/s40168-023-01530-0

Int J Behav Nutr Phys Act. 2023 Apr 20;20(1):46. doi: 10.1186/s12966-023-01442-0.

ABSTRACT

BACKGROUND: Policy interventions to increase physical activity in early childhood education and care (ECEC) services are effective in increasing physical activity among young children. However, a large proportion of ECEC services do not have nor implement a physical activity policy. Play Active is an evidence-informed physical activity policy intervention with implementation support strategies to enable ECEC services to successfully implement their policy. This study examined the effectiveness, implementation, and process outcomes of Play Active.

METHODS: A pragmatic cluster randomised trial in 81 ECEC services in Perth, Western Australia was conducted in 2021. Services implemented their physical activity policy over a minimum of three months. The effectiveness outcomes were changes in educator practices related to daily time provided for total physical activity and energetic play. Implementation outcomes included changes in director- and educator-reported uptake of policy practices and director-reported uptake of high impact and low effort policy practices. Process evaluation outcomes included awareness, fidelity, reach, and acceptability of the intervention and implementation strategies. Analysis involved descriptive statistics and generalised linear mixed effects models.

RESULTS: There was a significant increase in the uptake of director-reported policy practices (p = 0.034), but no change in the uptake of the subset of high impact and low effort policy practices. Intervention group educators reported high awareness of the Play Active policy recommendations (90%). Play Active acceptability was high among educators (83%) and directors (78%). Fidelity and reach were high for most implementation support strategies (> 75%). There were no significant changes in the amount of physical activity or energetic play educators provided to children or in the proportion of educators providing the policy recommended ≥ 180 min of physical activity/day or ≥ 30 min of energetic play/day for intervention compared to wait-listed comparison services.

CONCLUSIONS: Play Active resulted in significantly higher uptake of physical activity practices. However, there was no change in the amount of physical activity provided to children, which may be explained by the relatively short policy implementation period. Importantly, Play Active had high awareness, fidelity, reach, and acceptability. Future research should investigate the effectiveness of Play Active over longer implementation periods and its scalability potential.

TRIAL REGISTRATION: Australian New Zealand Clinical Trials Registry (reference number 12620001206910, registered 13/11/2020, https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=378304&isReview=true ).

PMID:37081560 | DOI:10.1186/s12966-023-01442-0

Arch Public Health. 2023 Apr 20;81(1):60. doi: 10.1186/s13690-023-01090-7.

ABSTRACT

BACKGROUND: Stunting increases morbidity and mortality, hindering mental development and influencing cognitive capacity of children. This study aimed to examine the trends and determinants of stunting from infancy to middle adolescence in four countries: Ethiopia, India, Peru, and Vietnam.

METHODS: A 15-year longitudinal data on the trends of stunting were obtained from the Young Lives cohort study. The study includes 38,361 observations from 4 countries. A generalized mixed-effects model was adopted to estimate the determinant of stunting.

RESULTS: The patterns of stunting in children from aged 1 to 15 years have declined from an estimated 30% in 2002 to 20% in 2016. Stunting prevalence varied among four low- and middle-income countries with children in Ethiopia, India, and Peru being more stunted compared to children in Vietnam. The highest stunted was recorded in India and the lowest was recorded in Vietnam. In all four countries, the highest prevalence of severe stunting was observed in 2002 and moderate stunting was observed in 2006. Parents’ education level played a significance role in determining a child stunting. Children of uneducated parents were shown to be at a higher risk of stunting.

CONCLUSION: Disparities of stunting were observed between- and within-country of four low- and middle-income with the highest prevalence recorded in low-income country. Child stunting is caused by factors related to child’s age, household wealth, household size, the mother’s and father’s education level, residence area and access to save drinking water.

PMID:37081559 | DOI:10.1186/s13690-023-01090-7

Diagn Pathol. 2023 Apr 20;18(1):49. doi: 10.1186/s13000-023-01340-w.

ABSTRACT

BACKGROUND: Mucinous carcinoma (MC) is a histological subtype of ovarian cancer that has a worse prognosis at advanced stages than the most prevalent histological subtype, high-grade serous carcinomas. Invasive patterns have been recognized as prognostic factors for MCs. MCs with infiltrative invasion were more aggressive than those with expansile invasion. MC with an expansile pattern exhibited behavior similar to mucinous borderline tumors (MBT). However, genomic analysis of invasive patterns is insufficient. This study aimed to compare genetic information between groups with MC and infiltrative invasion (Group A) and those with MC with expansile invasion or MBT (Group B).

METHODS: Ten cases each of MC with infiltrative invasion, MC with expansile invasion, and MBT between 2005 and 2020 were identified. Deoxyribonucleic acid (DNA) extraction from formalin-fixed paraffin-embedded tissues was performed, and cases with DNA fragmentation or the possibility of DNA fragmentation were excluded. Mutant base candidates and tumor mutation burden (TMB) values (mutations/megabase) were calculated.

RESULTS: After assessing the quality of purified DNA, seven cases of MC with infiltrative invasion, five cases of MC with expansile invasion, and three cases of MBT were included. More patients in group A experienced recurrence or progression (p < 0.01) and died of disease (p = 0.03). Moreover, the TMB value was statistically higher in group A than in group B (p = 0.049). There were no statistical differences in the incidence of the mutations of KRAS, TP53, and CREBBP. KRAS, TP53, and CREBBP mutations were discovered in 8/15 (53.3%), 6/15 (40.0%), and 5/15 (33.3%) cases, respectively.

CONCLUSIONS: Genetic analysis revealed that Group A had higher TMB than Group B. Therefore, this result might be useful for future treatment.

PMID:37081552 | DOI:10.1186/s13000-023-01340-w

Cardiovasc Ultrasound. 2023 Apr 20;21(1):7. doi: 10.1186/s12947-023-00304-w.

ABSTRACT

BACKGROUND: Left ventricular global longitudinal strain (GLS) obtained from two-dimensional speckle-tracking echocardiography (2D-STE) can reflect cancer therapy-related cardiac dysfunction in breast cancer (BC) patients, however, the accuracy and reproducibility of 2D-STE are restricted due to poor image quality.

METHODS: Between January 2019 and October 2021, 160 consecutive BC patients aged ≥ 18 years were recruited. The 160 BC patients (mean age: 48.41 ± 9.93 years, 100% women) underwent both 2D-STE and Contrast-enhanced echocardiography (CEcho), 125 of whom were included in the measurement of GLS. The intraclass correlation coefficient (ICC) was used to determine the intra- and inter-observer reproducibility of 2D-STE and CEcho-STE. Correlation (r) was calculated using Pearson correlation. Statistical significance was set at P < 0.05.

RESULTS: Among 160 BC patients, more segments were recognized by CEcho-STE than by 2D-STE (2,771, 99.53% vs. 2,440, 84.72%). The left ventricular ejection fraction (LVEF) obtained by 2D was lower than CEcho (61.75 ± 6.59% vs. 64.14 ± 5.97%, P < 0.0001). The GLS obtained by 2D-STE was lower than CEcho-STE (-21.74 ± 2.77% vs. -26.79 ± 4.30%, P = 0.001). The ICC of the intraobserver and interobserver agreements in the CEcho-STE group was lower than that in the 2D-STE group. GLS measurements were in good agreement between the 2D-STE and CEcho-STE groups (r = 0.773).

CONCLUSIONS: CEcho can overcome some imaging limitations and recognize more segments than 2D, which may provide an LVEF and GLS closer to the true value. Based on AutoStrain, CEcho-STE may serve as a complementary method for those with poor image quality.

PMID:37081550 | DOI:10.1186/s12947-023-00304-w

BMC Public Health. 2023 Apr 20;23(1):724. doi: 10.1186/s12889-023-15519-9.

ABSTRACT

BACKGROUND: Health Literacy is a crucial factor for health. In Europe, many people have limited health literacy (i.e. difficulties with accessing, understanding, appraising and using health information). This study aimed to evaluate the psychometrics of the Swedish versions of the HLS-EU-Q16 and HLS-EU-Q6, instruments that aims to assess health literacy.

METHODS: In this prospective psychometric study convenience sampling was used, which gave a study population of 347 Swedish-speaking adults. The psychometric evaluation included item distributional statistics, construct validity testing, and principal component analysis to assess structural validity. Internal consistency and test-retest reliability was also investigated.

RESULTS: For the Swedish version of HLS-EU-Q16, no floor effects were detected but a ceiling effect was noted among 28% of the respondents. Construct validity was supported as four out of five expected correlations was confirmed (educational level, self-perceived health, electronic health literacy and HLS-EU-Q6). In terms of structural validity, the principal component analysis yielded a four-factor structure with most items loading significantly only to one factor. The Swedish version of HLS-EU-Q16 had acceptable internal consistency (Cronbach’s α = 0.89, split-half reliability = 0.93) and test-retest reliability showed stability over time (Cohen’s κ = 0.822). For the Swedish version of HLS-EU-Q6, neither floor nor ceiling effects were observed. Construct validity was supported as HLS-EU-Q6 correlated as our a priori stated hypothesis. The principal component analysis did not support the unidimensionality of the scale as a two-factor structure was identified. The Swedish version of HLS-EU-Q6 had acceptable internal consistency (Cronbach’s α = 0.77, split-half reliability = 0.80) and test-retest reliability showed stability over time (Cohen’s κ = 0.812). According to the Swedish version of the HLS-EU-Q16, 71% of the participants were classified as having sufficient comprehensive health knowledge (CHL), while only 33% were classified as having this when the HLS-EU-Q6 was used.

CONCLUSIONS: The Swedish versions of the HLS-EU-Q16 and HLS-EU-Q6 have acceptable psychometric properties, and based on the results we recommend its use to measure CHL. However, we are hesitant to use Sw-HLS-EU-Q6 in estimating different CHL levels and further studies need to be conducted to establish validity and accuracy of the thresholds of HLS-EU-Q6.

PMID:37081538 | DOI:10.1186/s12889-023-15519-9

Orphanet J Rare Dis. 2023 Apr 20;18(1):90. doi: 10.1186/s13023-023-02674-w.

ABSTRACT

BACKGROUND: Patient-centered research has emerged as critically important for understanding the impact of treatments on key stakeholders. The subjective experience of quality of life (QOL) is increasingly recognized as fundamental to delineating treatment goals. The present study utilized content analysis of qualitative data and quantitative analysis to highlight important domains of disease burden and underlying reasons for their importance, and to characterize goals for new treatments for Duchenne Muscular Dystrophy (DMD).

RESULTS: The study sample reflected the perspectives of DMD patients and caregivers representing ambulatory, transitional, and non-ambulatory stages of disability progression (n = 20 per category). Open-ended interviews were content-analyzed and non-parametric statistical tests were used to compare ambulation groups. As patients progressed in disability, the noted DMD burdens reflected some differences in functional areas. While daily functioning and sports/recreation remained the most important priority areas across ambulation groups, “health” became less prominent as the disability progressed from ambulatory to transitional to non-ambulatory phases of disability; whereas relationships became more prominent as one progressed to the non-ambulatory phase from the ambulatory or transitional phases (Kruskall Wallis H = 12.24 and 5.28, p = 0.002 and 0.02, respectively). When asked why their burdens were important to them and how it impacted their or their child’s life, self-esteem/confidence was most important for ambulatory patients, and became less prominent for patients in the transitional and non-ambulatory phases of disability (Kruskall Wallis H = 9.46, p = 0.009). In contrast, independence was less important for ambulatory patients, and became increasing prominent for patients in the transitional and non-ambulatory phases of disability (Kruskall Wallis H = 7.35, p = 0.025). Emotional functioning was most prominent for all ambulation groups on their best and worst days. Goals for new DMD treatments focused on functional goals, general QOL goals, and concerns about safety, ease of use, and effectiveness.

CONCLUSION: This study provides useful information about treatment goals for DMD from the perspective of patients and their caregivers. It highlights some consistent values across the disability trajectory, as well as introducing an evolution of priorities as the person with DMD becomes more disabled. Results provide a roadmap for patient-centered DMD drug development.

PMID:37081508 | DOI:10.1186/s13023-023-02674-w

Harm Reduct J. 2023 Apr 20;20(1):53. doi: 10.1186/s12954-023-00776-z.

ABSTRACT

BACKGROUND: As the overdose crisis in Canada continues to escalate in severity, novel interventions and programs are required. Safer Supply programs offer pharmaceutical-grade medication to people who use drugs to replace and decrease harms related to the toxic illicit drug supply. Given the paucity of research surrounding these programs, we sought to better understand the experience of being part of a Safer Supply program from the perspective of current participants.

METHODS: We completed semi-structured interviews and surveys with Safer Supply participants in Ottawa, Canada. Interviews were audio-recorded, transcribed, and analyzed thematically. Descriptive statistics were used to report survey data.

RESULTS: Participants most commonly discussed Safer Supply benefits. This included programs offering a sense of community, connection, hope for the future, and increased autonomy. Participants also described program concerns, such as restrictive protocols, inadequate drugs, and diversion.

CONCLUSIONS: Our research demonstrated that participants found Safer Supply to be effective and impactful for their substance use goals. While participants did discuss concerns about the program, overall, we found that this is an important harm reduction-based program for people who use drugs in the midst of the overdose crisis.

PMID:37081500 | DOI:10.1186/s12954-023-00776-z

BMC Public Health. 2023 Apr 20;23(1):715. doi: 10.1186/s12889-023-15560-8.

ABSTRACT

BACKGROUND: The consequences of the COVID-19 pandemic have been far-reaching, disproportionately impacting vulnerable populations. Of particular concern is the impact on individuals experiencing domestic violence (DV), an urgent public health issue. There have been numerous reports of pandemic-related surges in DV, and it has been speculated that prolonged periods of state-mandated isolation may be the source of these surges. The current study utilized publicly available records to examine fluctuations in DV coinciding with COVID-19 lockdown restrictions in a diverse metropolitan county.

METHODS: Data were extracted from local police blotters and mapping engines in Orange County, California (United States), documenting police-reported DV assault. All incidents were coded for time to examine the time course of DV among other types of assault, allowing for a longitudinal view of incidents over a 66-week window. Changepoint analyses were used to determine whether and when DV assaults changed when mapped with coinciding tightening or loosening of restrictions county-wide. Piecewise regression analyses evaluated whether any detected fluctuations were statistically meaningful.

RESULTS: In Santa Ana, rates saw a small but significant spike in the week following the first major lockdown in March 2020 (b = .04, SE = .02, t = 2.37, p = .01), remaining stable at this higher level thereafter (b = -.003, SE = .003, t = -1.29, p = .20). In Anaheim, no meaningful change in DV assault rates was observed at any time interval.

CONCLUSION: Results suggest that surges in DV vary between communities and that systemic issues may set the stage for the surge of an already endemic problem.

PMID:37081496 | DOI:10.1186/s12889-023-15560-8