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Aurrekoetxea J.J.,Basque Government | Aurrekoetxea J.J.,University of the Basque Country | Aurrekoetxea J.J.,Health Research Institute BIODONOSTIA | Murcia M.,CIBER ISCIII | And 25 more authors.
BMJ Open | Year: 2013

Objectives: To estimate the prevalence and factors associated with smoking and misclassification in pregnant women from INMA (INfancia y Medio Ambiente, Environment and Childhood) project, Spain, and to assess the optimal cut-offs for urinary cotinine (UC) that best distinguish daily and occasional smokers with varying levels of second-hand smoke (SHS) exposure. Design: We used logistic regression models to study the relationship between sociodemographic variables and self-reported smoking and misclassification (self-reported non-smokers with UC >50 ng/ml). Receiver operating characteristic (ROC) curves were used to calculate the optimal cut-off point for discriminating smokers. The cut-offs were also calculated after stratification among non-smokers by the number of sources of SHS exposure. The cut-off points used to discriminate smoking status were the level of UC given by Youden's index and for 50 and 100 ng/ml for daily smokers, or 25 and 50 ng/ml for occasional smokers. Participants: At the third trimester of pregnancy, 2263 pregnant women of the INMA Project were interviewed between 2004 and 2008 and a urine sample was collected. Results: Prevalence of self-reported smokers at the third trimester of pregnancy was 18.5%, and another 3.9% misreported their smoking status. Variables associated with self-reported smoking and misreporting were similar, including born in Europe, educational level and exposure to SHS. The optimal cut-off was 82 ng/ml (95% CI 42 to 133), sensitivity 95.2% and specificity 96.6%. The area under the ROC curve was 0.986 (95% CI 0.982 to 0.990). The cut-offs varied according to the SHS exposure level being 42 (95% CI 27 to 57), 82 (95% CI 46 to 136) and 106 ng/ml (95% CI 58 to 227) for not being SHS exposed, exposed to one, and to two or more sources of SHS, respectively. The optimal cut-off for discriminating occasional smokers from non-smokers was 27 ng/ml (95% CI 11 to 43). Conclusions: Prevalence of smoking during pregnancy in Spain remains high. UC is a reliable biomarker for classifying pregnant women according to their smoking status. However, cut-offs would differ based on baseline exposure to SHS.

Aurrekoetxea J.J.,Basque Government | Aurrekoetxea J.J.,University of the Basque Country | Aurrekoetxea J.J.,Health Research Institute BIODONOSTIA | Murcia M.,CIBER ISCIII | And 25 more authors.
Science of the Total Environment | Year: 2014

The aim of this study was to evaluate the main sources of and sociodemographic factors associated with second-hand smoke (SHS) exposure, assessed both by questionnaire and by urinary cotinine (UC) levels, in non-smoking pregnant women. We conducted a cross-sectional study in pregnant women from 4 different regions in Spain. A total of 1783 non-smoking pregnant women completed a questionnaire about their previous smoking habit and SHS exposure in their 3rd trimester of pregnancy and provided a urine sample for measuring UC levels. We used logistic regression models to assess the relationship between several sociodemographic variables and some potential sources of SHS exposure. In addition, we analysed the association of several sociodemographic variables and the SHS exposure according to UC levels, using Tobit regression analysis. More than half of women (55.5%) were exposed to SHS in their 3rd trimester of pregnancy. The following variables were associated with SHS exposure: having smoked previously, low educational level, and being primiparous. Data collection after the first law banning smoking in public places was associated with lower risk of SHS exposure in restaurants and at work. UC levels were higher among women exposed to more than one source. Having a partner who smoked at home was the source of SHS with the greatest impact on UC levels, followed by having a partner who smoked but not at home, other people smoking in the household, being exposed during leisure time, at work and at restaurants. The most important source of SHS exposure was exposure at home. Prevention of SHS exposure should be addressed not only with pregnant women but also with their families. © 2013 Elsevier B.V.

Blazquez L.,University of Navarra | Blazquez L.,Health Research Institute BIODONOSTIA | Aiastui A.,Health Research Institute BIODONOSTIA | Aiastui A.,CIBER ISCIII | And 12 more authors.
Human Mutation | Year: 2013

Limb-girdle muscular dystrophy type 2A (LGMD2A) is the most frequent autosomal recessive muscular dystrophy. It is caused by mutations in the calpain-3 (CAPN3) gene. The majority of the mutations described to date are located in the coding sequence of the gene. However, it is estimated that 25% of the mutations are present at exon-intron boundaries and modify the pre-mRNA splicing of the CAPN3 transcript. We have previously described the first deep intronic mutation in the CAPN3 gene: c.1782+1072G>C mutation. This mutation causes the pseudoexonization of an intronic sequence of the CAPN3 gene in the mature mRNA. In the present work, we show that the point mutation generates the inclusion of the pseudoexon in the mRNA using a minigene assay. In search of a treatment that restores normal splicing, splicing modulation was induced by RNA-based strategies, which included antisense oligonucleotides and modified small-nuclear RNAs. The best effect was observed with antisense sequences, which induced pseudoexon skipping in both HeLa cells cotransfected with mutant minigene and in fibroblasts from patients. Finally, transfection of antisense sequences and siRNA downregulation of serine/arginine-rich splicing factor 1 (SRSF1) indicate that binding of this factor to splicing enhancer sequences is involved in pseudoexon activation. c.1782+1072G>C mutation is the first deep-intronic mutation in the CAPN3 gene, which leads to LGMD2A. The mutation causes the inclusion of a pseudoexon in mature CAPN3 mRNA. In this work, we demonstrate mutation pathogenicity with a minigene assay and we induce splicing modulation with Antisense Oligonucleotides (AONs) and modified U-snRNAs. In addition, AON treatment restores correct splicing in fibroblasts from a LGMD2A patient which harbors this mutation. Our results indicate that SRSF1 splicing factor is involved in pseudoexon activation. © 2013 Wiley Periodicals, Inc.

Font-Ribera L.,Center for Research in Environmental Epidemiology | Font-Ribera L.,CIBER ISCIII | Villanueva C.M.,Center for Research in Environmental Epidemiology | Villanueva C.M.,CIBER ISCIII | And 20 more authors.
European Journal of Pediatrics | Year: 2013

We evaluated the relationship between indoor and outdoor swimming pool attendance and respiratory symptoms and infections during the first year of life. A population-based mother-child cohort study was conducted in four Spanish areas (INMA project). Study subjects were recruited at pregnancy, followed to delivery and 14 months after birth. Information on swimming pool attendance and health manifestations during the first year of life was collected at 14 months: low respiratory tract infection (LRTI), persistent cough, wheezing, atopic eczema and otitis. Odds ratios and 95 % confidence interval (OR 95 %CI) were calculated by logistic regression adjusting for confounders. Among the 2,205 babies included, 37 % reported having LRTI, 37 % wheezing, 16 % persistent cough, 22 % atopic eczema, 33 % otitis and 50 % attended swimming pools during the first year of life. Around 40 % went to outdoor pools in summer with a median cumulative duration of 7.5 h/year, and 20 % attended indoor pools with a median cumulative duration of 18 h/year. Pool attendance differed by area, season of birth and sociodemographic characteristics, and was not associated with LRTI, wheezing, persistent cough, atopic eczema or otitis. Adjusted OR of wheezing and LRTI were, respectively, 1.06 (95 %CI, 0.88-1.28) and 1.09 (0.90-1.31) for babies attending vs. babies not attending pools. Stratification by type of swimming pool, cumulative duration or parental atopy did not modify the results. Conclusion: No association was detected between pool attendance and LRTI, wheezing, persistent cough, atopic eczema or otitis during the first year of life in Spain. © 2013 Springer-Verlag Berlin Heidelberg.

Guerra S.,Center for Research in Environmental Epidemiology | Guerra S.,Hospital del Mar Research Institute IMIM | Guerra S.,CIBER ISCIII | Sartini C.,Center for Research in Environmental Epidemiology | And 20 more authors.
Paediatric and Perinatal Epidemiology | Year: 2013

Background: Maternal prepregnancy obesity has been linked to the offspring's risk for subsequent asthma. We determined whether maternal obesity is associated with increased risk of wheezing phenotypes early in life. Methods: We used data on 1107 mother-child pairs from two birth cohorts from the INMA-INfancia y Medio Ambiente project. Maternal height was measured and prepregnancy weight self-reported at enrolment (on average at 13.7 ± 2 weeks of gestation). Maternal prepregnancy body mass index was categorised as underweight, normal, overweight and obese according to WHO recommendations. Information on child's wheezing was obtained through questionnaires up to the age of 14 (±1) months. Wheezing was classified as infrequent (<4 reported wheezing episodes) or frequent (≥4 episodes). Weight and length of infants were measured by trained study staff at 14.6 (±1) months of age and weight-for-length z-scores computed. Results: Although maternal obesity did not increase the risk of the child to have any or infrequent wheezing, children of obese mothers were more likely to have frequent wheezing than children of normal-weight mothers (11.8% vs. 3.8%; P = 0.002). In fully adjusted multinomial logistic regression models, including infants' weight-for-length z-scores and other covariates, maternal prepregnancy obesity was associated with increased risk of frequent [adjusted relative risk (RR) 4.18, 95% confidence interval (CI) 1.55, 11.3] but not infrequent (RR 1.05 [95% CI 0.55, 2.01]) wheezing in their children. Conclusions: Maternal prepregnancy obesity is independently associated with an increased risk of frequent wheezing in the infant by the age of 14 months. These findings add evidence on the potential effects of in utero exposures on asthma-related phenotypes. © 2012 Blackwell Publishing Ltd.

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