Parental Risk Factors and Child Birth Data in a Matched Year and Sex Group Cleft Population: A Case-Control Study

(1) Background: The etiology of orofacial cleft (OC) is not completely known but several genetic and environmental risk factors have been identified. Moreover, a knowledge gap still persists regarding neonatal characteristics. This study evaluated the effect of parental age and mothers’ body mass index on the risk of having an OC child, in a matched year and sex group (cleft/healthy control). Additionally, birth data were analyzed between groups. (2) Methods: 266 individuals born between 1995 to 2015 were evaluated: 133 OC individuals (85 males/48 females) and 133 control (85 males/48 females). A logistic model was used for the independent variables. ANOVA or Kruskal-Wallis tests were used for comparison between the OC phenotypes. (3) Results: Regarding statistically significant parental related factors, the probability of having a cleft child decreases for each maternal year increase (odds ratio = 0.903) and increases for each body mass index unit (kg/m2) increase (odds ratio = 1.14). On the child data birth, for each mass unit (kg) increase, the probability of having a cleft child decrease (odds ratio = 0.435). (4) Conclusions: In this study, only maternal body mass index and maternal age found statistical differences in the risk of having a cleft child. In the children’s initial data, the cleft group found a higher risk of having a lower birth weight but no relation was found regarding length and head circumference.

Generalizability of Polygenic Risk Scores for Breast Cancer in the Multiethnic eMERGE Study

Background: The majority of polygenic risk scores (PRS) for breast cancer have been developed and validated using cohorts of European ancestry (EA). Less is known about the generalizability of these PRS in other ancestral groups. Methods: The Electronic Medical Records and Genomics (eMERGE) network cohort dataset was used to evaluate the performance of seven previously developed PRS (three EA-based PRSs, and four non-EA based PRSs) in three major ancestral groups. Each PRS was separately evaluated in EA (cases: 3939; controls: 28840), African ancestry (AA) (cases: 121; controls: 1173) and self-reported LatinX ancestry (LA) (cases: 92; controls: 1363) women. We assessed the association between breast cancer risk and each PRS, adjusting forage, study site, breast cancer family history, and first three ancestry informative principal components. Results: EA-based PRSs were significantly associated with breast cancer risk in EA women per one SD increase (odds ratio [OR]=1.45, 95% confidence interval [CI]=1.40-1.51), and LA women (OR=1.41, 95% CI=1.13-1.77), but not AA women (OR=1.13, 95% CI=0.92-1.40). There was no statistically significant association for the non-EA PRSs in all ancestry groups, including an LA-based PRS and an AA-based PRS. Conclusion: We evaluated EA-derived PRS for estimating breast cancer risk using the eMERGE dataset and found they generalized well in LA women but not in AA women. For non-EA based PRSs, we did not replicate previously reported associations for the respective ancestries in the eMERGE cohort. Our results highlight the need to improve representation of diverse population groups, particularly AA women, in research cohorts.

Is the global prevalence rate of adult mental illness increasing over time? Systematic review and meta-analysis of repeated cross-sectional population surveys

Objectives: The question whether mental illness prevalence rates are increasing is a controversially debated topic. Epidemiological articles and review publications that look into this research issue are often compromised by methodological problems. The present study aimed at using a meta-analysis technique that is usually applied for the analysis of intervention studies to achieve more transparency and statistical precision.Methods: We searched Pubmed, PsycInfo, CINAHL, Google Scholar and reference lists for repeated cross-sectional population studies on prevalence rates of adult mental illness based on ICD- or DSM-based diagnoses, symptom scales and distress scales that used the same methodological approach at least twice in the same geographical region. The study is registered with PROSPERO (CRD42018090959).Results: We included 44 samples from 42 publications, representing 1,035,697 primary observations for the first time point and 783,897 primary observations for the second and last time point. Studies were conducted between 1978 and 2015. Controlling for a hierarchical data structure, we found an overall global prevalence increase odds ratio of 1.179 (95%-CI: 1.065 – 1.305). A multivariate meta-regression suggested relevant associations with methodological characteristics of included studies. Conclusions: We conclude that the prevalence increase of adult mental illness is small and we assume that this increase is mainly related to demographic changes.

Risk factors and cumulative incidence of anaemia among HIV-infected injection drug users

Risk factors for anaemia and cumulative incidence of anaemia were examined in a longitudinal cohort study of 622 injection drug users (IDUs) (8885 visits) in Baltimore, Maryland, from 1988 to 2000. At enrolment, 19.6% subjects were anaemic (16.1% of men and 30.5% of women, P<0.0001) and 8.4% had microcytic anaemia (6.7% of men and 14.0% of women, P=0.006). Cumulative incidence of anaemia was 82.2% (87.9% of men and 100% of women, P<0.0001) during a median of 7.5 years follow-up. Factors associated with anaemia included age (per 5 year increase, odds ratio (OR)=1.22; 95% confidence interval (CI): 1.10, 1.36), female gender (OR=1.62; 95% CI: 1.16, 2.27), CD4+ lymphocyte count <200 cells/ µl (OR 1.85; 95% CI: 1.52, 2.24), weight loss (OR 1.55; 95% CI: 1.26, 1.91), oral thrush (OR 1.53; 95% CI: 1.21, 1.94), Mycobacterium avium complex infection (OR 1.30; 95% CI: 1.04, 1.64), and zidovudine use (OR 1.24; 95% CI: 1.04, 1.48). Higher body mass index (OR 0.92; 95% CI: 0.88, 0.95) and marijuana use (OR 0.75; 95% CI: 0.61, 0.92) were associated with a lower risk of anaemia. The cumulative incidence of anaemia is high among IDUs, and women are at highest risk of anaemia.