Documents genetic abnormalities 15 results

"Reproductive disease and fertility issues have dramatically increased in the human population over the last several decades, suggesting environmental impacts. Epigenetics provides a mechanistic link by which an organism can respond to environmental factors. Interestingly, environmentally induced epigenetic alterations in the germ line can promote aberrant gene expression and disease generationally. Environmentally induced epigenetic transgenerational inheritance is defined as germ-line transmission of altered epigenetic information between generations in the absence of continued environmental exposures. This form of nongenetic inheritance has been shown to directly influence fertility and reproductive disease. This review describes the studies in a variety of species that impact reproductive disease and abnormalities. Observations suggest serious attention be paid to the possibility that ancestral exposures to environmental insults promotes transgenerational inheritance of reproductive disease susceptibility. Environmentally induced epigenetic transgenerational inheritance appears to be an important contributing factor to reproductive disease in many organisms, including humans."

"Objectives: Painters' occupational exposure is classified as a group 1 carcinogen by the International Agency for Research on Cancer (IARC). Previous studies have shown increased risk of congenital malformations among children of women exposed to organic solvents and paint emissions during pregnancy. In Denmark, women comprise half of those enrolled in vocational paint training. We investigated the association between maternal and paternal occupational painting, respectively, and the risk of congenital malformations among children.Methods: National register data were used to link childbirths, malformations, and parental occupation. The cohort included >1 300 000 children born to occupationally active women in Denmark 1980–2010. Cases were hospital-diagnosed with malformations within the first year of life. Odds ratios (OR) with 95% confidence intervals (95% CI) were estimated using multiple logistic regression with adjustment for potential confounders.Results: Among 3444 children of female construction painters, we found no increased risk of malformations overall (126 cases, OR 0.88, 95% CI 0.74–1.05) or in organ-specific subgroups compared to children of women in all other occupations (55 045 cases). Sensitivity analyses restricted to severe malformations, children of maternal painters with ?2 years of pre-pregnancy exposure, and firstborn children, and analyses with maternal healthcare assistants and kitchen workers as reference supported the main results. Also, no associations were found when including diagnoses within the first 10 years of life, when stratifying by maternal age, birth year, and sex, or for paternal construction painters.Conclusions: This nationwide cohort study is reassuring with no indications of increased risk of congenital malformations among children of male or of female construction painters."

"…a book about the health and environmental threats created by man-made chemical contaminants that intefere with hormones in humans and wildlife. endocrine disrupting chemicals alter development of the fetus in the womb by interfering with the natural hormonal signals directing fetal growth. their impacts, sometimes not detectable until years or decades after exposure, include reduced disease resistance, diminished fertility and compromised intelligence and behavior. our stolen future tells the story of how endocrine disruption was discovered, how it works what it means, and how families can protect themselves and their communities, all in clear, simple language intended for a general audience...", from foreword by vice president Al Gore.

"Formaldehyde, the recently classified carcinogen and ubiquitous environmental contaminant, has long been suspected of causing adverse reproductive and developmental effects, but previous reviews were inconclusive, due in part, to limitations in the design of many of the human population studies. In the current review, we systematically evaluated evidence of an association between formaldehyde exposure and adverse reproductive and developmental effects, in human populations and in vivo animal studies, in the peer-reviewed literature. The mostly retrospective human studies provided evidence of an association of maternal exposure with adverse reproductive and developmental effects. Further assessment of this association by meta-analysis revealed an increased risk of spontaneous abortion (1.76, 95% CI 1.20-2.59, p=0.002) and of all adverse pregnancy outcomes combined (1.54, 95% CI 1.27-1.88, p<0.001), in formaldehyde-exposed women, although differential recall, selection bias, or confounding cannot be ruled out. Evaluation of the animal studies including all routes of exposure, doses and dosing regimens studied, suggested positive associations between formaldehyde exposure and reproductive toxicity, mostly in males. Potential mechanisms underlying formaldehyde-induced reproductive and developmental toxicities, including chromosome and DNA damage (genotoxicity), oxidative stress, altered level and/or function of enzymes, hormones and proteins, apoptosis, toxicogenomic and epigenomic effects (such as DNA methylation), were identified. To clarify these associations, well-designed molecular epidemiologic studies, that include quantitative exposure assessment and diminish confounding factors, should examine both reproductive and developmental outcomes associated with exposure in males and females. Together with mechanistic and animal studies, this will allow us to better understand the systemic effect of formaldehyde exposure."

"The purpose of this third edition of Developmental and Reproductive Toxicology is to provide a practical guide to developmental and reproductive toxicology in a regulatory environment. In addition to a comprehensive update of current chapters, the third edition been revised to reflect recent changes in the field. It contains new chapters that reflect emerging topics of interest, including testing of biologics (including vaccines), nonhuman primates as nonclinical models, developmental immunotoxicity testing, in vitro assays (such as use of zebrafish and stem cells, as well as high throughput screening), in silico systems modelling, evaluating mechanisms of reproductive toxicity, in-depth coverage of neurobehavioral testing, and testing under the EU's REACH regulations, as well as updated chapters on nonclinical juvenile toxicity testing, endocrine disruptor screening, and on functional and computational genomics.

The study of hazard and risk associated with exposure to toxicants during prenatal development has been expanded in recent years to include effects on development until the time of puberty. Concern over the adverse effects of chemical or physical agents on the reproductive processes of both sexes has increased, and progress has been made in identifying the causes and mechanisms eliciting congenital defects and determining the genetic, epigenetic, and environmental factors involved. This book provides up-to-date guidance on the use and interpretation of the newest research techniques in developmental and reproductive toxicology, as well as the more traditional approaches."

"This article examines the association between two birth defects, neural tube defects and oral cleft defects, and maternal physical work demands during the periconceptional period. A case-control study was conducted by comparing exposure characteristics of mothers of malformed infants, as ascertained from the New York State Congenital Malformations Registry (n = 520), with mothers of non-malformed infants (n = 1154). Case groups were further subdivided on whether infants had additional defects. Occupational exposure information was collected from a self-administered questionnaire, and demographic variables from vital records. The results showed no general differences between cases and controls in most variables. However, those infants with cleft defects plus additional defects tended to have a marginally increased risk (odds ratio = 1.76; 95% confidence interval, 1.02-3.21) in relation to maternal jobs requiring standing (> or = 75% of time). We suggest that exposure assessment be improved and defects subdivided for future studies."

"Background Evidence of fetal damage or demise from occupational organic solvent levels that are not toxic to the pregnant woman is inconsistent in the medical literature. The risk for major malformations and spontaneous abortion from maternal inhalation of organic solvent exposure during pregnancy was summarized using meta-analysis. Methods Medline, Toxline, and Dissertation Abstracts databases were searched to locate all research papers published in any language from 1966 to 1994. Included were studies that were case-control or cohort in design and indicated first trimester (or up to 20 weeks gestation for spontaneous abortion) maternal solvent exposure. A summary odds ratio (ORs) with 95% confidence intervals (CI) was calculated from research results combined by the Mantel-Haenszel method. Results In total, 559 studies were obtained from the literature search. Five studies for each outcome of interest qualified for inclusion in the analysis. The ORs for major malformations from five studies (n = 7,036 patients) was 1.64 (CI 1.16-2.30) and for spontaneous abortion from five studies (n = 2,899 patients) was 1.25 (CI 0.99-1.58). Conclusions Maternal occupational exposure to organic solvents is associated with a tendency toward an increased risk for spontaneous abortion and additional studies may affect the trend. There is a statistically significant association with major malformations which warrants further investigation. "

"OBJECTIVE: To study the relations between maternal occupational exposure to solvents during pregnancy and the risk of congenital malformations. METHODS: A prospective population-based cohort, specifically designed to study the impact of maternal exposure to solvents on the risk of congenital malformations, began in 2002 in three districts of Brittany (France). 3421 pregnant women were recruited until the end of 2005 by physicians before 19 weeks of gestation and followed through birth. Information on pregnancy outcomes was obtained from the hospital. Occupational exposure to solvents at the beginning of pregnancy was assessed from the women's self-reported occupational exposures at inclusion and from a job-exposure matrix (JEM). Sociodemographic characteristics, lifestyle factors, medical history, diseases during pregnancy were obtained at inclusion and from hospital records. Analyses were restricted to working women (n = 3005). Logistic regressions were used to adjust for potential confounders. RESULTS: 30.2% of the working women declared regular exposure to at least one product that may contain solvents. 21.3% of them were classified at least in the medium exposure category using the JEM. Occupations mainly classified as exposed by both assessment methods were hairdressers, nurses' aides, nurses and chemists/biologists. Significant associations were found between major congenital malformations and maternal occupational exposure to solvents, assessed by both self-report odds ratio (OR = 2.48, 95% CI 1.4 to 4.4 for regular exposure vs no exposure) and the JEM (OR = 3.48, 95% CI 1.4 to 8.4 for highest level of exposure vs no exposure). A significant dose-response trend was observed with both assessment methods. Several subgroups of major malformations were associated with maternal exposure to solvents (oral clefts, urinary malformations and male genital malformations). CONCLUSION: This study provides further evidence of an association between exposure to solvents during pregnancy and the risk of major malformations."