scholarly journals Shorter Periconception Maternal Telomere Length and the Risk of Congenital Cardiac Outflow Defects in the Offspring: a case control study

Author(s):  
Damiat Aoulad Fares ◽  
Rosalieke Wiegel ◽  
Alex Eggink ◽  
Sten Willemsen ◽  
Joyce Van Meurs ◽  
...  

Objective: Congenital cardiac outflow defects (COD) are the largest group of congenital heart defects, with ventricular septal defect (VSD) as the most prevalent phenotype. Increased maternal age, excessive oxidative stress and inflammation are involved in the pathophysiology and enhance telomere length (TL) shortening. We aim to study the association between periconception maternal TL, as future predictive biomarker, and the risk of having a child with COD. Design: HAVEN-study, a multicenter case-control triad study conducted in the Netherlands. Setting and population: 306 case mothers of a child with COD and 424 control mothers of a child without a congenital malformation were selected. Methods: TL was estimated, on DNA from venous blood samples, by qPCR. Multivariable logistic regression was used to compute crude and adjusted odds ratios (OR) per standard deviation (SD) decrease between maternal T/S ratio and COD and VSD risk. Main outcome measures: The risk of COD in offspring. Results: A significant association was shown between maternal TL shortening (per standard deviation) and a 29% increased risk of VSD in offspring (OR 1.29(95% CI 1.04-1.61), P= 0,02), which remained significant after additional adjustment for maternal age (adjOR 1.25(95% CI 1.01-1.55), P= 0,04). No association between maternal TL and the risk of overall COD in offspring was observed. Conclusion: Shortening of maternal TL, due to maternal conditions including age, is associated with an approximately 1.3-fold increased risk, per SD in TL-shortening, of VSD in the offspring. These findings need further confirmation in other studies on the predictive value of maternal TL.

2020 ◽  
Vol 8 (1) ◽  
Author(s):  
Chenan Zhang ◽  
◽  
Quinn T. Ostrom ◽  
Eleanor C. Semmes ◽  
Vijay Ramaswamy ◽  
...  

Abstract Ependymoma is the third most common brain tumor in children, with well-described molecular characterization but poorly understood underlying germline risk factors. To investigate whether genetic predisposition to longer telomere length influences ependymoma risk, we utilized case–control data from three studies: a population-based pediatric and adolescent ependymoma case–control sample from California (153 cases, 696 controls), a hospital-based pediatric posterior fossa type A (EPN-PF-A) ependymoma case–control study from Toronto’s Hospital for Sick Children and the Children’s Hospital of Philadelphia (83 cases, 332 controls), and a multicenter adult-onset ependymoma case–control dataset nested within the Glioma International Case-Control Consortium (GICC) (103 cases, 3287 controls). In the California case–control sample, a polygenic score for longer telomere length was significantly associated with increased risk of ependymoma diagnosed at ages 12–19 (P = 4.0 × 10−3), but not with ependymoma in children under 12 years of age (P = 0.94). Mendelian randomization supported this observation, identifying a significant association between genetic predisposition to longer telomere length and increased risk of adolescent-onset ependymoma (ORPRS = 1.67; 95% CI 1.18–2.37; P = 3.97 × 10−3) and adult-onset ependymoma (PMR-Egger = 0.042), but not with risk of ependymoma diagnosed before age 12 (OR = 1.12; 95% CI 0.94–1.34; P = 0.21), nor with EPN-PF-A (PMR-Egger = 0.59). These findings complement emerging literature suggesting that augmented telomere maintenance is important in ependymoma pathogenesis and progression, and that longer telomere length is a risk factor for diverse nervous system malignancies.


Author(s):  
Meixian Wang ◽  
Yan Tian ◽  
Ping Yu ◽  
Nana Li ◽  
Ying Deng ◽  
...  

Abstract To investigate the correlation between maternal manganese and iron concentrations and the risk of CHD among their infant. A multi-center hospital-based case control study was conducted in China. There were 322 cases and 333 controls have been selected from pregnant women who received prenatal examinations. Correlations between CHDs and maternal manganese and iron concentrations were estimated by conditional logistic regression. Moreover, the interaction between manganese and iron on CHDs was analyzed. Compared with the controls, mothers whose hair manganese concentration was 3.01 μg/g or more were more likely to have a child with CHD than those with a lower concentration. The adjusted OR was 2.68 (95%CI = 1.44–4.99). The results suggested that mothers whose iron content was 52.95 μg/g or more had a significantly higher risk of having a child with CHD (aOR = 2.87, 95%CI = 1.54–5.37). No interaction between maternal manganese and iron concentrations was observed in the multiplicative or additive model. The concurrently existing high concentration of manganese and iron may bring higher risk of CHD (OR = 7.02). Women with excessive manganese concentrations have a significantly increased risk of having offspring with CHDs. The high maternal iron status also correlates with CHDs. The concurrently existing high concentration of manganese and iron may bring higher risk of CHD.


2013 ◽  
Vol 4 (1) ◽  
pp. 14-17
Author(s):  
Lakshmi Rathna Marakani ◽  
Sirisha Rao Gundabattula ◽  
Shashikala Dasari ◽  
Manjula Pochiraju ◽  
Kameswari Surampudi

ABSTRACT Aim To compare risk factors for extratubal gestations with tubal gestations. Materials and methods Case control design with retrospective examination of an electronic database to identify ectopic gestations. Ectopic gestations were confirmed through ultrasound examination or serum beta hCG levels. We defined an ectopic gestation as implantation of pregnancy outside uterine cavity; tubal ectopic including implantation in the tube, isthmic, ampullary, or fimbrial and extratubal ectopic including implantation in the ovaries, cervix, abdomen, interstitia or cesarean scar. Results Ninety-one (1.1%, 95% CI: 0.9-1.3, 1 in 90 pregnancies) of 8,203 pregnancies during the study period were ectopic gestations including 69 (0.8%, 95% CI: 0.7-1.1, 1 in 120 pregnancies) tubal gestations and 22 (0.3%, 95% CI: 0.2-0.4, 1 in 372 pregnancies) gestations in extratubal locations. Extratubal ectopic gestations were more common in women with advanced maternal age (odds ratio: 7.4, 95% CI: 1.3, 43.9, p = 0.03) compared to women with tubal ectopic gestations. Conclusion Risk factors for extratubal gestation did not differ from risk factors for tubal gestations except for advanced maternal age. Pregnant women with advanced maternal age have to be additionally counseled on the increased risk for extratubal gestations. How to cite this article Pochiraju M, Surampudi K, Marakani LR, Dasari S, Gundabattula SR. A Case Control Study Comparing Risk Factors for Ectopic Gestation in Unusual and Tubal Gestations. Int J Infertility Fetal Med 2013;4(1):14-17.


Author(s):  
Jiaomei Yang ◽  
Yijun Kang ◽  
Yue Cheng ◽  
Lingxia Zeng ◽  
Hong Yan ◽  
...  

Limited studies investigating the relationships between dietary patterns and congenital heart defects (CHDs) are available. This study aimed to explore the associations between dietary patterns and CHDs risk in Shaanxi, China. We conducted a hospital-based case-control study and included a total of 474 cases and 948 controls. Pregnant women waiting for delivery in the hospital were interviewed to report their diets during pregnancy using a validated food frequency questionnaire. Dietary patterns were derived using principal component factor analysis. Mixed logistic regression models were used to assess the associations between dietary patterns and CHDs. Pregnant women in the highest tertile of the prudent pattern had a lower risk of CHDs compared to those in the lowest tertile (OR = 0.65, 95%CI: 0.48–0.89). Pregnant women with high scores on the vegetarian pattern were at an increased risk of CHDs (medium vs. lowest tertile: OR = 1.50, 95%CI = 1.03–2.17; highest vs. lowest tertile: OR = 1.56, 95%CI = 1.13–2.15; ptrend = 0.015). Pregnant women with high scores on the dairy and egg pattern were at a reduced risk of CHDs (medium vs. lowest tertile: OR = 0.66, 95%CI = 0.49–0.90; highest vs. lowest tertile: OR = 0.60, 95%CI = 0.43–0.82; ptrend = 0.001). Maternal diet during pregnancy is an important target for intervention, and it may influence the likelihood of developing CHDs.


2021 ◽  
pp. 1-8
Author(s):  
Regina Sá ◽  
Tiago Pinho-Bandeira ◽  
Guilherme Queiroz ◽  
Joana Matos ◽  
João Duarte Ferreira ◽  
...  

<b><i>Background:</i></b> Ovar was the first Portuguese municipality to declare active community transmission of SARS-CoV-2, with total lockdown decreed on March 17, 2020. This context provided conditions for a large-scale testing strategy, allowing a referral system considering other symptoms besides the ones that were part of the case definition (fever, cough, and dyspnea). This study aims to identify other symptoms associated with COVID-19 since it may clarify the pre-test probability of the occurrence of the disease. <b><i>Methods:</i></b> This case-control study uses primary care registers between March 29 and May 10, 2020 in Ovar municipality. Pre-test clinical and exposure-risk characteristics, reported by physicians, were collected through a form, and linked with their laboratory result. <b><i>Results:</i></b> The study population included a total of 919 patients, of whom 226 (24.6%) were COVID-19 cases and 693 were negative for SARS-CoV-2. Only 27.1% of the patients reporting contact with a confirmed or suspected case tested positive. In the multivariate analysis, statistical significance was obtained for headaches (OR 0.558), odynophagia (OR 0.273), anosmia (OR 2.360), and other symptoms (OR 2.157). The interaction of anosmia and odynophagia appeared as possibly relevant with a borderline statistically significant OR of 3.375. <b><i>Conclusion:</i></b> COVID-19 has a wide range of symptoms. Of the myriad described, the present study highlights anosmia itself and calls for additional studies on the interaction between anosmia and odynophagia. Headaches and odynophagia by themselves are not associated with an increased risk for the disease. These findings may help clinicians in deciding when to test, especially when other diseases with similar symptoms are more prevalent, namely in winter.


2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Bojing Liu ◽  
Arvid Sjölander ◽  
Nancy L. Pedersen ◽  
Jonas F. Ludvigsson ◽  
Honglei Chen ◽  
...  

AbstractTo examine whether irritable bowel syndrome (IBS) was related to the future risk of Parkinson’s disease (PD), we conducted a nested case-control study in the Swedish total population including 56,564 PD cases identified from the Swedish Patient Register and 30 controls per case individually matched by sex and year of birth. Odds ratios (ORs) with 95% confidence intervals (CIs) for having a prior diagnosis of IBS were estimated using conditional logistic regression. We furthermore conducted a cohort study using the Swedish Twin Registry following 3046 IBS patients identified by self-reported abdominal symptoms and 41,179 non-IBS individuals. Through Cox proportional hazard models, we estimated hazard ratios (HRs) and 95% CIs for PD risk. In the nested case-control study, 253 (0.4%) PD cases and 5204 (0.3%) controls had a previous IBS diagnosis. IBS diagnosis was associated with a 44% higher risk of PD (OR = 1.44, 95% CI 1.27–1.63). Temporal relationship analyses showed 53% and 38% increased risk of PD more than 5 and 10 years after IBS diagnosis, respectively. In the cohort analysis based on the Swedish Twin Registry, there was no statistically significantly increased risk of PD related to IBS (HR = 1.25, 95% CI = 0.87–1.81). Our results suggest a higher risk of PD diagnosis after IBS. These results provide additional evidence supporting the importance of the gut–brain axis in PD.


BMC Medicine ◽  
2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Paul M. McKeigue ◽  
◽  
Sharon Kennedy ◽  
Amanda Weir ◽  
Jen Bishop ◽  
...  

Abstract Background The objective of this study was to investigate the relation of severe COVID-19 to prior drug prescribing. Methods Severe cases were defined by entry to critical care or fatal outcome. For this matched case-control study (REACT-SCOT), all 4251 cases of severe COVID-19 in Scotland since the start of the epidemic were matched for age, sex and primary care practice to 36,738 controls from the population register. Records were linked to hospital discharges since June 2015 and dispensed prescriptions issued in primary care during the last 240 days. Results Severe COVID-19 was strongly associated with the number of non-cardiovascular drug classes dispensed. This association was strongest in those not resident in a care home, in whom the rate ratio (95% CI) associated with dispensing of 12 or more drug classes versus none was 10.8 (8.8, 13.3), and in those without any of the conditions designated as conferring increased risk of COVID-19. Of 17 drug classes postulated at the start of the epidemic to be “medications compromising COVID”, all were associated with increased risk of severe COVID-19 and these associations were present in those without any of the designated risk conditions. The fraction of cases in the population attributable to exposure to these drug classes was 38%. The largest effect was for antipsychotic agents: rate ratio 4.18 (3.42, 5.11). Other drug classes with large effects included proton pump inhibitors (rate ratio 2.20 (1.72, 2.83) for = 2 defined daily doses/day), opioids (3.66 (2.68, 5.01) for = 50 mg morphine equivalent/day) and gabapentinoids. These associations persisted after adjusting for covariates and were stronger with recent than with non-recent exposure. Conclusions Severe COVID-19 is associated with polypharmacy and with drugs that cause sedation, respiratory depression, or dyskinesia; have anticholinergic effects; or affect the gastrointestinal system. These associations are not easily explained by co-morbidity. Measures to reduce the burden of mortality and morbidity from COVID-19 should include reinforcing existing guidance on reducing overprescribing of these drug classes and limiting inappropriate polypharmacy. Registration ENCEPP number https://EUPAS35558


2021 ◽  
pp. 1-9
Author(s):  
Supriya Misra ◽  
Bizu Gelaye ◽  
David R. Williams ◽  
Karestan C. Koenen ◽  
Christina P.C. Borba ◽  
...  

Abstract Background Perceived discrimination is associated with worse mental health. Few studies have assessed whether perceived discrimination (i) is associated with the risk of psychotic disorders and (ii) contributes to an increased risk among minority ethnic groups relative to the ethnic majority. Methods We used data from the European Network of National Schizophrenia Networks Studying Gene-Environment Interactions Work Package 2, a population-based case−control study of incident psychotic disorders in 17 catchment sites across six countries. We calculated odds ratios (OR) and 95% confidence intervals (95% CI) for the associations between perceived discrimination and psychosis using mixed-effects logistic regression models. We used stratified and mediation analyses to explore differences for minority ethnic groups. Results Reporting any perceived experience of major discrimination (e.g. unfair treatment by police, not getting hired) was higher in cases than controls (41.8% v. 34.2%). Pervasive experiences of discrimination (≥3 types) were also higher in cases than controls (11.3% v. 5.5%). In fully adjusted models, the odds of psychosis were 1.20 (95% CI 0.91–1.59) for any discrimination and 1.79 (95% CI 1.19–1.59) for pervasive discrimination compared with no discrimination. In stratified analyses, the magnitude of association for pervasive experiences of discrimination appeared stronger for minority ethnic groups (OR = 1.73, 95% CI 1.12–2.68) than the ethnic majority (OR = 1.42, 95% CI 0.65–3.10). In exploratory mediation analysis, pervasive discrimination minimally explained excess risk among minority ethnic groups (5.1%). Conclusions Pervasive experiences of discrimination are associated with slightly increased odds of psychotic disorders and may minimally help explain excess risk for minority ethnic groups.


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