WorldWideScience

Sample records for human birth defects

  1. Birth Defects

    Science.gov (United States)

    A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of ... in the United States is born with a birth defect. A birth defect may affect how the ...

  2. Facts about Birth Defects

    Science.gov (United States)

    ... label> Information For… Media Policy Makers Facts about Birth Defects Language: English (US) Español (Spanish) Recommend on ... having a baby born without a birth defect. Birth Defects Are Common Every 4 ½ minutes, a ...

  3. Birth Defects (For Parents)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Birth Defects KidsHealth / For Parents / Birth Defects What's in ... Prevented? Print en español Anomalías congénitas What Are Birth Defects? While still in the womb, some babies ...

  4. Beating Birth Defects

    Centers for Disease Control (CDC) Podcasts

    Each year in the U.S., one in 33 babies is affected by a major birth defect. Women can greatly improve their chances of giving birth to a healthy baby by avoiding some of the risk factors for birth defects before and during pregnancy. In this podcast, Dr. Stuart Shapira discusses ways to improve the chances of giving birth to a healthy baby.

  5. Mouse Models for Investigating the Developmental Bases of Human Birth Defects

    OpenAIRE

    MOON, ANNE M.

    2006-01-01

    Clinicians and basic scientists share an interest in discovering how genetic or environmental factors interact to perturb normal development and cause birth defects and human disease. Given the complexity of such interactions, it is not surprising that 4% of human infants are born with a congenital malformation, and cardiovascular defects occur in nearly 1%. Our research is based on the fundamental hypothesis that an understanding of normal and abnormal development will permit us to generate ...

  6. Birth Defects: Cerebral Palsy

    Science.gov (United States)

    ... Loss > Birth defects & other health conditions > Cerebral palsy Cerebral palsy E-mail to a friend Please fill in ... this page It's been added to your dashboard . Cerebral palsy (also called CP) is a group of conditions ...

  7. Birth Defects Data and Statistics

    Science.gov (United States)

    ... Submit" /> Information For… Media Policy Makers Data & Statistics Recommend on Facebook Tweet Share Compartir On This ... and critical. Read below for the latest national statistics on the occurrence of birth defects in the ...

  8. Microcephaly and Other Birth Defects: Zika

    Science.gov (United States)

    ... Español (Spanish) Recommend on Facebook Tweet Share Compartir Zika and Microcephaly Microcephaly is a birth defect in ... pregnancy or has stopped growing after birth. Congenital Zika Syndrome Congenital Zika syndrome is a unique pattern ...

  9. Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study.

    NARCIS (Netherlands)

    Desrosiers, T.A.; Herring, A.H.; Shapira, S.K.; Hooiveld, M.; Luben, T.J.; Herdt-Losavio, M.L.; Lin, S.; Olshan, A.F.

    2012-01-01

    Objectives: Several epidemiological studies have suggested that certain paternal occupations may be associated with an increased prevalence of birth defects in offspring. Using data from the National Birth Defects Prevention Study, the authors investigated the association between paternal occupation

  10. Birth defects in children with newborn encephalopathy

    NARCIS (Netherlands)

    Felix, JF; Badawi, N; Kurinczuk, JJ; Bower, C; Keogh, JM; Pemberton, PJ

    2000-01-01

    This study was designed to investigate birth defects found in association with newborn encephalopathy. All possible birth defects were ascertained in a population-based study of 276 term infants with moderate or severe encephalopathy and 564 unmatched term control infants. A strong association

  11. Agricultural Compounds in Water and Birth Defects.

    Science.gov (United States)

    Brender, Jean D; Weyer, Peter J

    2016-06-01

    Agricultural compounds have been detected in drinking water, some of which are teratogens in animal models. The most commonly detected agricultural compounds in drinking water include nitrate, atrazine, and desethylatrazine. Arsenic can also be an agricultural contaminant, although arsenic often originates from geologic sources. Nitrate has been the most studied agricultural compound in relation to prenatal exposure and birth defects. In several case-control studies published since 2000, women giving birth to babies with neural tube defects, oral clefts, and limb deficiencies were more likely than control mothers to be exposed to higher concentrations of drinking water nitrate during pregnancy. Higher concentrations of atrazine in drinking water have been associated with abdominal defects, gastroschisis, and other defects. Elevated arsenic in drinking water has also been associated with birth defects. Since these compounds often occur as mixtures, it is suggested that future research focus on the impact of mixtures, such as nitrate and atrazine, on birth defects.

  12. Teratology: from science to birth defects prevention.

    Science.gov (United States)

    Rasmussen, Sonja A; Erickson, J David; Reef, Susan E; Ross, Danielle S

    2009-01-01

    One of the goals of birth defects research is to better understand risk or preventive factors for birth defects so that strategies for prevention can be developed. In this article, we have selected four areas of birth defects research that have led to the development of prevention strategies. These areas include rubella virus as a cause of congenital rubella syndrome, folic acid as a preventive factor for neural tube defects, cytomegalovirus infection as a cause of birth defects and developmental disabilities, and alcohol as a cause of fetal alcohol spectrum disorders. For each of these areas, we review key clinical and research findings that led to the identification of the risk or preventive factor, milestones in the development of prevention strategies, and the progress made thus far toward prevention.

  13. Tritium releases, birth defects and infant deaths

    International Nuclear Information System (INIS)

    1991-01-01

    The AECB has published a report 'Tritium releases from the Pickering Nuclear Generating Station and Birth Defects and Infant Mortality in Nearby Communities 1971-1988' (report number INFO-0401). This presents the results of a detailed analysis of deaths and birth defects occurring in infants born to mothers living in the area (25 Km radius) of the Pickering nuclear power plant, over an 18-year period. The analysis looked at the frequency of these defects and deaths in comparison to the general rate for Ontario, and also in relation to airborne and waterborne releases of tritium from the power plant. The overall conclusion was that the rates of infant death and birth defects were generally not higher in the study population than in all of Ontario. There was no prevalent relationship between these deaths and defects and tritium releases measured either at the power plant or by ground monitoring stations t some distance from the facility

  14. Birth Defects Research and Tracking

    Science.gov (United States)

    ... Basis for Future Research on Medication Use During Pregnancy (Published: July 15, 2016) Key Findings: Antibiotic Use among Women with Urinary Tract Infections in the First Trimester of Pregnancy and Birth ...

  15. Knowledge of birth defects among nursing mothers in a developing ...

    African Journals Online (AJOL)

    sponsibility is placed on parents in the recognition of these defects. Objectives: The .... be prevented, detected, inherited or treated; and if they knew that folic ... could be used to prevent certain birth defects. ..... birth defects such as smoking.

  16. Embryos, genes, and birth defects

    National Research Council Canada - National Science Library

    Ferretti, Patrizia

    2006-01-01

    ... Structural anomalies The genesis of chromosome abnormalities Embryo survival The cause of high levels of chromosome abnormality in human embryos Relative parental risks - age, translocations, inversions, gonadal and germinal mosaics 33 33 34 35 36 44 44 45 4 Identification and Analysis of Genes Involved in Congenital Malformation Syndromes Peter J. Scambler Ge...

  17. Laterality defects in the national birth defects prevention study 1998-2007 birth prevalence and descriptive epidemiology

    Science.gov (United States)

    Little is known epidemiologically about laterality defects. Using data from the National Birth Defects Prevention Study (NBDPS), a large multi-site case-control study of birth defects, we analyzed prevalence and selected characteristics in children born with laterality defects born from 1998 to 2007...

  18. Thyroid Medication Use and Birth Defects in the National Birth Defects Prevention Study.

    Science.gov (United States)

    Howley, Meredith M; Fisher, Sarah C; Van Zutphen, Alissa R; Waller, Dorothy K; Carmichael, Suzan L; Browne, Marilyn L

    2017-11-01

    Thyroid disorders are common among reproductive-aged women, with hypothyroidism affecting 2 to 3% of pregnancies, and hyperthyroidism affecting an additional 0.1 to 1%. We examined associations between thyroid medications and individual birth defects using data from the National Birth Defects Prevention Study (NBDPS). The NBDPS is a multisite, population-based, case-control study that included pregnancies with estimated delivery dates from 1997 to 2011. We analyzed self-reported thyroid medication use from mothers of 31,409 birth defect cases and 11,536 unaffected controls. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using logistic regression for birth defects with five or more exposed cases, controlling for maternal age, race/ethnicity, and study center. Crude ORs and exact 95% CIs were estimated for defects with 3 to 4 exposed cases. Thyroid hormone was used by 738 (2.3%) case and 237 (2.1%) control mothers, and was associated with anencephaly (OR = 1.68; 95% CI, 1.03-2.73), holoprosencephaly (OR = 2.48; 95% CI, 1.13-5.44), hydrocephaly (1.77; 95% CI, 1.07-2.95) and small intestinal atresia (OR = 1.81; 95% CI, 1.04-3.15). Anti-thyroid medication was used by 34 (0.1%) case and 10 (<0.1%) control mothers, and was associated with aortic valve stenosis (OR = 6.91; 95% CI, 1.21-27.0). While new associations were identified, our findings are relatively consistent with previous NBDPS analyses. Our findings suggest thyroid medication use is not associated with most birth defects studied in the NBDPS, but may be associated with some specific birth defects. These results should not be interpreted to suggest that medications used to treat thyroid disease are teratogens, as the observed associations may reflect effects of the underlying thyroid disease. Birth Defects Research 109:1471-1481, 2017.© 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  19. The spatial evaluation of neighborhood clusters of birth defects

    Energy Technology Data Exchange (ETDEWEB)

    Frisch, J.D.

    1990-04-16

    Spatial statistics have recently been applied in epidemiology to evaluate clusters of cancer and birth defects. Their use requires a comparison population, drawn from the population at risk for disease, that may not always be readily available. In this dissertation the plausibility of using data on all birth defects, available from birth defects registries, as a surrogate for the spatial distribution of all live births in the analysis of clusters is assessed. Three spatial statistics that have been applied in epidemiologic investigations of clusters, nearest neighbor distance, average interpoint distance, and average distance to a fixed point, were evaluated by computer simulation for their properties in a unit square, and in a zip code region. Comparison of spatial distributions of live births and birth defects was performed by drawing samples of live births and birth defects from Santa Clara County, determining the street address at birth, geocoding this address and evaluating the resultant maps using various statistical techniques. The proposed method was then demonstrated on a previously confirmed cluster of oral cleft cases. All live births for the neighborhood were geocoded, as were all birth defects. Evaluation of this cluster using the nearest neighbor and average interpoint distance statistics was performed using randomization techniques with both the live births population and the birth defect population as comparison groups. 113 refs., 36 figs., 16 tabs.

  20. FastStats: Birth Defects or Congenital Anomalies

    Science.gov (United States)

    ... this? Submit What's this? Submit Button NCHS Home Birth Defects or Congenital Anomalies Recommend on Facebook Tweet ... 4,825 Infant deaths per 100,000 live births: 121.3 Cause of infant death rank: 1 ...

  1. Beating Birth Defects (A Cup of Health with CDC)

    Centers for Disease Control (CDC) Podcasts

    2013-01-17

    Each year in the U.S., one in 33 babies is affected by a major birth defect. Women can greatly improve their chances of giving birth to a healthy baby by avoiding some of the risk factors for birth defects before and during pregnancy. In this podcast, Dr. Stuart Shapira discusses ways to improve the chances of giving birth to a healthy baby.  Created: 1/17/2013 by MMWR.   Date Released: 1/17/2013.

  2. Birth Defects in the Newborn Population: Race and Ethnicity

    Directory of Open Access Journals (Sweden)

    Alexander C. Egbe

    2015-06-01

    Conclusion: This is a comprehensive description of racial differences in the risk of birth defects in the United States. Observed racial differences in the risk of birth defects may be related to genetic susceptibilities, to cultural or social differences that could modify exposures, or to the many potential combinations between susceptibilities and exposures.

  3. Seasonality in birth defects, agricultural production and urban location.

    Science.gov (United States)

    McKinnish, Terra; Rees, Daniel I; Langlois, Peter H

    2014-12-01

    This paper tests whether the strength of the "spring spike" in birth defects is related to agricultural production and urban location using Texas Birth Defects Registry data for the period 1996-2007. We find evidence of a spike in birth defects among children conceived in the spring and summer, but it is more pronounced in urban non-agricultural counties than in other types of counties. Furthermore, the spike lasts longer in urban non-agricultural counties as compared to other types of counties. Copyright © 2014 Elsevier B.V. All rights reserved.

  4. Risk factors and birth prevalence of birth defects and inborn errors of ...

    African Journals Online (AJOL)

    Children with any birth defect or metabolic errors of metabolism at birth or in the neonatology section were our sample for study. Control group was randomly selected from the cases with normal live births. Blood tests were performed for children suspected to suffer from genetic blood disorders. The principal BD as per the ...

  5. Assisted reproductive technology and major birth defects in Western Australia.

    Science.gov (United States)

    Hansen, Michele; Kurinczuk, Jennifer J; de Klerk, Nicholas; Burton, Peter; Bower, Carol

    2012-10-01

    To estimate the prevalence of major birth defects diagnosed by 6 years of age in all births and terminations of pregnancy for fetal anomaly conceived by assisted reproductive technology (when this included intracytoplasmic sperm injection and in vitro fertilization [IVF]) and the remainder of nonassisted reproductive technology-conceived children born in Western Australia from 1994 to 2002. This retrospective cohort study used data linkage between three population-based registers (Reproductive Technology Register, Western Australian Register of Developmental Anomalies, and Midwives' Notification of Birth System) to identify all assisted reproductive technology (n=2,911) and nonassisted reproductive technology (n=210,997) births with and without birth defects diagnosed by age 6 and all terminations of pregnancy for fetal anomaly. A major birth defect was diagnosed in 8.7% of assisted reproductive technology and 5.4% of nonassisted reproductive technology singletons (odds ratio [OR] 1.53, 95% confidence interval [CI] 1.30-1.79), as well as 7.1% of assisted reproductive technology twins and 5.9% of nonassisted reproductive technology twins of unlike sex (OR 1.08, 95% CI 0.77-1.51). The prevalence of birth defects in assisted reproductive technology singletons and twins decreased markedly over the study period. This change was evident across all three clinics contributing data over the whole study and was particularly marked for children conceived as a result of IVF. There has been a decrease in the prevalence of birth defects over time in children born as a result of assisted reproductive technology in Western Australia; however, the prevalence of major birth defects in assisted reproductive technology singletons remains increased compared with nonassisted reproductive technology singletons. II.

  6. Public health approach to birth defects: the Argentine experience.

    Science.gov (United States)

    Bidondo, María Paz; Groisman, Boris; Barbero, Pablo; Liascovich, Rosa

    2015-04-01

    Birth defects are a global problem, but their impact is particularly severe in low and middle income countries, where the conditions for prevention, treatment, and rehabilitation are more critical. The epidemiological transition in the infant mortality causes, and the concern of the community and the mass media about the teratogenic risk of environmental pollutants, has made health authorities aware of the importance of birth defects in Argentina. The objective of this paper is to outline those actions specifically taken in Argentina aimed at the prevention of birth defects at a national level. Firstly, we focus on birth defects in Argentina on a general basis, and then we present different laws and actions taken in terms of surveillance and public health programs, primary, secondary, and tertiary prevention. Finally, we present the Teratology Information Service "Fetal Health Line", and the genetic services organization and health professionals training by the National Center of Medical Genetics and the National Program of Genetics Network. In conclusion, in the country, several programs focus on different approaches to the problem, and the challenge is to coordinate the teamwork between them. Finally, we list tips to address birth defects from the public health perspective.

  7. Parental mental illness and fatal birth defects in a national birth cohort

    DEFF Research Database (Denmark)

    Webb, Roger; Pickles, A.R.; King-Hele, Sarah

    2007-01-01

    BACKGROUND: Few large studies describe links between maternal mental illness and risk of major birth defect in offspring. Evidence is sparser still for how effects vary between maternal diagnoses and no previous study has assessed risk with paternal illnesses.MethodA population-based birth cohort...... genetic effects directly linked with maternal illness, lifestyle factors (diet, smoking, alcohol and drugs), poor antenatal care, psychotropic medication toxicity, and gene-environment interactions. Further research is needed to elucidate the causal mechanisms...

  8. Maternal Residential Exposure to Agricultural Pesticides and Birth Defects in a 2003 to 2005 North Carolina Birth Cohort

    Science.gov (United States)

    Birth defects are responsible for a large proportion of disability and infant mortality. Exposure to a variety of pesticides have been linked to increased risk of birth defects. We conducted a case-control study to estimate the associations between a residence-based metric of agr...

  9. Birth defects and genetic disorders among Arab Americans--Michigan, 1992-2003.

    Science.gov (United States)

    Yanni, Emad A; Copeland, Glenn; Olney, Richard S

    2010-06-01

    Birth defects and genetic disorders are leading causes of infant morbidity and mortality in many countries. Population-based data on birth defects among Arab-American children have not been documented previously. Michigan has the second largest Arab-American community in the United States after California. Using data from the Michigan Birth Defects Registry (MBDR), which includes information on parents' country of birth and ancestry, birth prevalences were estimated in offspring of Michigan women of Arab ancestry for 21 major categories of birth defects and 12 congenital endocrine, metabolic, and hereditary disorders. Compared with other non-Hispanic white children in Michigan, Arab-American children had similar or lower birth prevalences of the selected types of structural birth defects, with higher rates of certain hereditary blood disorders and three categories of metabolic disorders. These estimates are important for planning preconception and antenatal health care, genetic counseling, and clinical care for Arab Americans.

  10. Folic Acid and Birth Defects: A Case Study (Iran

    Directory of Open Access Journals (Sweden)

    Mohammad Bager Hosseini

    2011-01-01

    Full Text Available The aim of this study was to evaluate the impact of folic acid use in pregnancy for the reduction of neural tube defects (NTDs in the northwest region of Iran. We studied 243 women with pregnancies complicated by some forms of birth defect(s. These patients were identified by medical diagnostic tests as having a fetus with some types of congenital anomalies. The prevalence of NTDs among pregnant women who were referred for therapeutic termination of pregnancy was 24.7 percent. Consumption of folic acid prevented NTDs by 79 percent (Odds Ratio = 0.21, CI 95%: 0.12–0.40 and 94 percent (Odds Ratio = 0.06, CI 95%: 0.03–0.15 compared to pregnancies complicated by other anomalies and normal pregnancies, respectively. Hydrops fetalis, hydrocephaly, Down syndrome, and limb anomalies did not have any significant association with the folic acid use. Along with the advice for the consumption of folic acid for pregnant women, they should be offered prenatal screening or diagnostic tests to identify fetal abnormalities for possible termination of pregnancy.

  11. Association between antibiotic use among pregnant women with urinary tract infections in the first trimester and birth defects, National Birth Defects Prevention Study 1997 to 2011.

    Science.gov (United States)

    Ailes, Elizabeth C; Gilboa, Suzanne M; Gill, Simerpal K; Broussard, Cheryl S; Crider, Krista S; Berry, Robert J; Carter, Tonia C; Hobbs, Charlotte A; Interrante, Julia D; Reefhuis, Jennita

    2016-11-01

    Previous studies noted associations between birth defects and some antibiotics (e.g., nitrofurantoin, sulfonamides) but not others (e.g., penicillins). It is unclear if previous findings were due to antibiotic use, infections, or chance. To control for potential confounding by indication, we examined associations between antibiotic use and birth defects, among women reporting urinary tract infections (UTIs). The National Birth Defects Prevention Study is a multi-site, population-based case-control study. Case infants/fetuses have any of over 30 major birth defects and controls are live-born infants without major birth defects. We analyzed pregnancies from 1997 to 2011 to estimate the association between maternally reported periconceptional (month before conception through the third month of pregnancy) use of nitrofurantoin, trimethoprim-sulfamethoxazole, or cephalosporins and specific birth defects, among women with periconceptional UTIs. Women with periconceptional UTIs who reported penicillin use served as the comparator. Periconceptional UTIs were reported by 7.8% (2029/26,068) of case and 6.7% (686/10,198) of control mothers. Most (68.2% of case, 66.6% of control mothers) also reported antibiotic use. Among 608 case and 231 control mothers reporting at least one periconceptional UTI and certain antibiotic use, compared with penicillin, nitrofurantoin use was associated with oral clefts in the offspring (adjusted odds ratio, 1.97 [95% confidence interval, 1.10-3.53]), trimethoprim-sulfamethoxazole use with esophageal atresia (5.31 [1.39-20.24]) and diaphragmatic hernia (5.09 [1.20-21.69]), and cephalosporin use with anorectal atresia/stenosis (5.01 [1.34-18.76]). Periconceptional exposure to some antibiotics might increase the risk for certain birth defects. However, because individual birth defects are rare, absolute risks should drive treatment decisions.Birth Defects Research (Part A) 106:940-949, 2016.© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals

  12. Insights from Parents about Caring for a Child with Birth Defects

    Directory of Open Access Journals (Sweden)

    Amanda Mateus

    2013-08-01

    Full Text Available Birth defects affect 1 in 33 babies. Having a child with a birth defect impacts the whole family. Parents of children who have birth defects face unique challenges and desire to make life better for their kids. They also want to help to prevent birth defects in the future. Some of the challenges parents face involve communication with healthcare professionals, quality of life issues, creating awareness and advocating for research and funding, finding resources and support, and helping teens transition to appropriate, specialized adult care. This paper addresses these issues and their sub-issues, provides examples, and makes suggestions for improvement and research.

  13. Insights from Parents about Caring for a Child with Birth Defects

    Science.gov (United States)

    Lemacks, Jodi; Fowles, Kristin; Mateus, Amanda; Thomas, Kayte

    2013-01-01

    Birth defects affect 1 in 33 babies. Having a child with a birth defect impacts the whole family. Parents of children who have birth defects face unique challenges and desire to make life better for their kids. They also want to help to prevent birth defects in the future. Some of the challenges parents face involve communication with healthcare professionals, quality of life issues, creating awareness and advocating for research and funding, finding resources and support, and helping teens transition to appropriate, specialized adult care. This paper addresses these issues and their sub-issues, provides examples, and makes suggestions for improvement and research. PMID:23965922

  14. Feasibility of identifying families for genetic studies of birth defects using the National Health Interview Survey

    Directory of Open Access Journals (Sweden)

    Nolan Vikki G

    2004-05-01

    Full Text Available Abstract Background The purpose of this study was to determine whether the National Health Interview Survey is a useful source to identify informative families for genetic studies of birth defects. Methods The 1994/1995 National Health Interview Survey (NHIS was used to identify households where individuals with two or more birth defects reside. Four groups of households were identified: 1 single non-familial (one individual with one birth defect; 2 single familial (more than one individual with one birth defect; 3 multiple non-familial (one individual with more than one birth defect, and 4 multiple familial (more than one individual with more than one birth defect. The March 2000 U.S. Census on households was used to estimate the total number of households in which there are individuals with birth defects. Results Of a total of 28,094 households and surveyed about birth defects and impairments, 1,083 single non-familial, 55 multiple non-familial, 54 single familial, and 8 multiple familial households were identified. Based on the 2000 U.S. census, it is estimated that there are 4,472,385 households where at least one person has one birth defect in the United States and in 234,846 of them there are at least two affected individuals. Western states had the highest prevalence rates. Conclusions Population-based methods, such as the NHIS, are modestly useful to identify the number and the regions where candidate families for genetic studies of birth defects reside. Clinic based studies and birth defects surveillance systems that collect family history offer better probability of ascertainment.

  15. Maternal residential exposure to agricultural pesticides and birth defects in a 2003 to 2005 North Carolina birth cohort.

    Science.gov (United States)

    Rappazzo, Kristen M; Warren, Joshua L; Meyer, Robert E; Herring, Amy H; Sanders, Alison P; Brownstein, Naomi C; Luben, Thomas J

    2016-04-01

    Birth defects are responsible for a large proportion of disability and infant mortality. Exposure to a variety of pesticides have been linked to increased risk of birth defects. We conducted a case-control study to estimate the associations between a residence-based metric of agricultural pesticide exposure and birth defects. We linked singleton live birth records for 2003 to 2005 from the North Carolina (NC) State Center for Health Statistics to data from the NC Birth Defects Monitoring Program. Included women had residence at delivery inside NC and infants with gestational ages from 20 to 44 weeks (n = 304,906). Pesticide exposure was assigned using a previously constructed metric, estimating total chemical exposure (pounds of active ingredient) based on crops within 500 meters of maternal residence, specific dates of pregnancy, and chemical application dates based on the planting/harvesting dates of each crop. Logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals for four categories of exposure (90(th) percentiles) compared with unexposed. Models were adjusted for maternal race, age at delivery, education, marital status, and smoking status. We observed elevated ORs for congenital heart defects and certain structural defects affecting the gastrointestinal, genitourinary and musculoskeletal systems (e.g., OR [95% confidence interval] [highest exposure vs. unexposed] for tracheal esophageal fistula/esophageal atresia = 1.98 [0.69, 5.66], and OR for atrial septal defects: 1.70 [1.34, 2.14]). Our results provide some evidence of associations between residential exposure to agricultural pesticides and several birth defects phenotypes. Birth Defects Research (Part A) 106:240-249, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  16. Prenatal nitrate intake from drinking water and selected birth defects in offspring of participants in the national birth defects prevention study.

    Science.gov (United States)

    Brender, Jean D; Weyer, Peter J; Romitti, Paul A; Mohanty, Binayak P; Shinde, Mayura U; Vuong, Ann M; Sharkey, Joseph R; Dwivedi, Dipankar; Horel, Scott A; Kantamneni, Jiji; Huber, John C; Zheng, Qi; Werler, Martha M; Kelley, Katherine E; Griesenbeck, John S; Zhan, F Benjamin; Langlois, Peter H; Suarez, Lucina; Canfield, Mark A

    2013-09-01

    Previous studies of prenatal exposure to drinking-water nitrate and birth defects in offspring have not accounted for water consumption patterns or potential interaction with nitrosatable drugs. We examined the relation between prenatal exposure to drinking-water nitrate and selected birth defects, accounting for maternal water consumption patterns and nitrosatable drug exposure. With data from the National Birth Defects Prevention Study, we linked addresses of 3,300 case mothers and 1,121 control mothers from the Iowa and Texas sites to public water supplies and respective nitrate measurements. We assigned nitrate levels for bottled water from collection of representative samples and standard laboratory testing. Daily nitrate consumption was estimated from self-reported water consumption at home and work. With the lowest tertile of nitrate intake around conception as the referent group, mothers of babies with spina bifida were 2.0 times more likely (95% CI: 1.3, 3.2) to ingest ≥ 5 mg nitrate daily from drinking water (vs. nitrate daily (vs. water nitrate intake did not increase associations between prenatal nitrosatable drug use and birth defects. Higher water nitrate intake was associated with several birth defects in offspring, but did not strengthen associations between nitrosatable drugs and birth defects.

  17. Limb defects associated with major congenital anomalies : Clinical and epidemiological study from the international clearinghouse for birth defects monitoring systems

    NARCIS (Netherlands)

    Rosano, A; Botto, LD; Olney, RS; Khoury, MJ; Ritvanen, A; Goujard, J; Stoll, C; Cocchi, G; Merlob, P; Mutchinick, O; Cornel, MC; Castilla, EE; Martinez-Frias, ML; Zampino, G; Erickson, JD; Mastroiacovo, P

    2000-01-01

    Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring, me pooled data from II birth defect registries that are part of the International Clearinghouse

  18. Links between environmental geochemistry and rate of birth defects: Shanxi Province, China

    Energy Technology Data Exchange (ETDEWEB)

    Yu Haiying [State Key Laboratory of Earth Surface Processes and Resource Ecology, School of Geography, Beijing Normal University, Beijing 100875 (China); College of Resources and Environmental Sciences, Sichuan Agricultural University, Ya' an, Sichuan 625014 (China); Zhang Keli, E-mail: keli@bnu.edu.cn [State Key Laboratory of Earth Surface Processes and Resource Ecology, School of Geography, Beijing Normal University, Beijing 100875 (China)

    2011-01-01

    The rate of birth defects in Shanxi Province is among the highest worldwide. In order to identify the impacts of geochemical and environmental factors on birth defect risk, samples of soil, water and food were collected from an area with an unusually high rate of birth defects (study area) and an area with a low rate of birth defects (control area) in Shanxi Province, China. Element contents were determined by ICP-OES, and the results were analyzed using a non-parametric test and stepwise regression. Differences in the level and distribution of 14 geochemical elements, namely arsenic (As), selenium (Se), molybdenum (Mo), zinc (Zn), strontium (Sr), iron (Fe), tin (Sn), magnesium (Mg), vanadium (V), calcium (Ca), copper (Cu), aluminum (Al), potassium (K) and sulfur (S) were thus compared between the study and control areas. The results reveal that the geochemical element contents in soil, water and food show a significant difference between the study area and control area, and suggest that the study area was characterized by higher S and lower Sr and Al contents. These findings, based on statistical analysis, may be useful in directing further epidemiological investigations identifying the leading causes of birth defects. - Research Highlights: {yields} Environmental geochemistry has an significant impact on birth defects in the regions with an unusually high rate of birth defects. {yields} An excess of S and deficiency of Sr and Al are the distinctive environmental features associated with the high rate of birth defects in the Shanxi Province of China. {yields} Geochemical anomalies is a non-medical basis for effective prevention and cure of birth defects.

  19. Links between environmental geochemistry and rate of birth defects: Shanxi Province, China

    International Nuclear Information System (INIS)

    Yu Haiying; Zhang Keli

    2011-01-01

    The rate of birth defects in Shanxi Province is among the highest worldwide. In order to identify the impacts of geochemical and environmental factors on birth defect risk, samples of soil, water and food were collected from an area with an unusually high rate of birth defects (study area) and an area with a low rate of birth defects (control area) in Shanxi Province, China. Element contents were determined by ICP-OES, and the results were analyzed using a non-parametric test and stepwise regression. Differences in the level and distribution of 14 geochemical elements, namely arsenic (As), selenium (Se), molybdenum (Mo), zinc (Zn), strontium (Sr), iron (Fe), tin (Sn), magnesium (Mg), vanadium (V), calcium (Ca), copper (Cu), aluminum (Al), potassium (K) and sulfur (S) were thus compared between the study and control areas. The results reveal that the geochemical element contents in soil, water and food show a significant difference between the study area and control area, and suggest that the study area was characterized by higher S and lower Sr and Al contents. These findings, based on statistical analysis, may be useful in directing further epidemiological investigations identifying the leading causes of birth defects. - Research Highlights: → Environmental geochemistry has an significant impact on birth defects in the regions with an unusually high rate of birth defects. → An excess of S and deficiency of Sr and Al are the distinctive environmental features associated with the high rate of birth defects in the Shanxi Province of China. → Geochemical anomalies is a non-medical basis for effective prevention and cure of birth defects.

  20. The Co-Occurrence of Autism and Birth Defects: Prevalence and Risk in a Population-Based Cohort

    Science.gov (United States)

    Schendel, Diana E.; Autry, Andrew; Wines, Roberta; Moore, Cynthia

    2009-01-01

    Aim: To estimate the prevalence of major birth defects among children with autism, the prevalence of autism in children with birth defects, and the risk for autism associated with having birth defects. Method: Retrospective cohort including all children born in Atlanta, GA, USA, 1986 to 1993, who survived to age 3 years and were identified through…

  1. Risk factors and birth prevalence of birth defects and inborn errors of ...

    African Journals Online (AJOL)

    raoul

    2011-02-23

    Feb 23, 2011 ... methylmalonic aciduria, and maple syrup urine disease (MSUD) had their diagnoses confirmed by enzyme assay. The diagnosis of all ... Personal information like date of birth, sex, area of residence, mother's age at birth, father's age, order of birth, birth weight, gestational age on birth, medical history and ...

  2. Using Bayesian Models to Assess the Effects of Under-reporting of Cannabis Use on the Association with Birth Defects, National Birth Defects Prevention Study, 1997–2005

    Science.gov (United States)

    van Gelder, Marleen M. H. J.; Rogier, A.; Donders, T.; Devine, Owen; Roeleveld, Nel; Reefhuis, Jennita

    2015-01-01

    Background Studies on associations between periconceptional cannabis exposure and birth defects have mainly relied on self-reported exposure. Therefore, the results may be biased due to underreporting of the exposure. The aim of this study was to quantify the potential effects of this form of exposure misclassification. Methods Using multivariable logistic regression, we re-analyzed associations between periconceptional cannabis use and 20 specific birth defects using data from the National Birth Defects Prevention Study from 1997–2005 for 13 859 case infants and 6556 control infants. For seven birth defects, we implemented four Bayesian models based on various assumptions concerning the sensitivity of self-reported cannabis use to estimate odds ratios (ORs), adjusted for confounding and underreporting of the exposure. We used information on sensitivity of self-reported cannabis use from the literature for prior assumptions. Results The results unadjusted for underreporting of the exposure showed an association between cannabis use and anencephaly (posterior OR 1.9 [95% credible interval (CRI) 1.1, 3.2]) which persisted after adjustment for potential exposure misclassification. Initially, no statistically significant associations were observed between cannabis use and the other birth defect categories studied. Although adjustment for underreporting did not notably change these effect estimates, cannabis use was associated with esophageal atresia (posterior OR 1.7 [95% CRI 1.0, 2.9]), diaphragmatic hernia (posterior OR 1.8 [95% CRI 1.1, 3.0]) and gastroschisis (posterior OR 1.7 [95% CRI 1.2, 2.3]) after correction for exposure misclassification. Conclusions Underreporting of the exposure may have obscured some cannabis-birth defect associations in previous studies. However, the resulting bias is likely to be limited. PMID:25155701

  3. Using bayesian models to assess the effects of under-reporting of cannabis use on the association with birth defects, national birth defects prevention study, 1997-2005.

    Science.gov (United States)

    van Gelder, Marleen M H J; Donders, A Rogier T; Devine, Owen; Roeleveld, Nel; Reefhuis, Jennita

    2014-09-01

    Studies on associations between periconceptional cannabis exposure and birth defects have mainly relied on self-reported exposure. Therefore, the results may be biased due to under-reporting of the exposure. The aim of this study was to quantify the potential effects of this form of exposure misclassification. Using multivariable logistic regression, we re-analysed associations between periconceptional cannabis use and 20 specific birth defects using data from the National Birth Defects Prevention Study from 1997-2005 for 13 859 case infants and 6556 control infants. For seven birth defects, we implemented four Bayesian models based on various assumptions concerning the sensitivity of self-reported cannabis use to estimate odds ratios (ORs), adjusted for confounding and under-reporting of the exposure. We used information on sensitivity of self-reported cannabis use from the literature for prior assumptions. The results unadjusted for under-reporting of the exposure showed an association between cannabis use and anencephaly (posterior OR 1.9 [95% credible interval (CRI) 1.1, 3.2]) which persisted after adjustment for potential exposure misclassification. Initially, no statistically significant associations were observed between cannabis use and the other birth defect categories studied. Although adjustment for under-reporting did not notably change these effect estimates, cannabis use was associated with esophageal atresia (posterior OR 1.7 [95% CRI 1.0, 2.9]), diaphragmatic hernia (posterior OR 1.8 [95% CRI 1.1, 3.0]), and gastroschisis (posterior OR 1.7 [95% CRI 1.2, 2.3]) after correction for exposure misclassification. Under-reporting of the exposure may have obscured some cannabis-birth defect associations in previous studies. However, the resulting bias is likely to be limited. © 2014 John Wiley & Sons Ltd.

  4. First Trimester Influenza Vaccination and Risks for Major Structural Birth Defects in Offspring.

    Science.gov (United States)

    Kharbanda, Elyse Olshen; Vazquez-Benitez, Gabriela; Romitti, Paul A; Naleway, Allison L; Cheetham, T Craig; Lipkind, Heather S; Klein, Nicola P; Lee, Grace; Jackson, Michael L; Hambidge, Simon J; McCarthy, Natalie; DeStefano, Frank; Nordin, James D

    2017-08-01

    To examine risks for major structural birth defects in infants after first trimester inactivated influenza vaccine (IIV) exposures. In this observational study, we used electronic health data from 7 Vaccine Safety Datalink sites to examine risks for selected major structural defects in infants after maternal IIV exposure. Vaccine exposures for women with continuous insurance enrollment through pregnancy who delivered singleton live births between 2004 and 2013 were identified from standardized files. Infants with continuous insurance enrollment were followed to 1 year of age. We excluded mother-infant pairs with other exposures that potentially increased their background risk for birth defects. Selected cardiac, orofacial or respiratory, neurologic, ophthalmologic or otologic, gastrointestinal, genitourinary and muscular or limb defects were identified from diagnostic codes in infant medical records using validated algorithms. Propensity score adjusted generalized estimating equations were used to estimate prevalence ratios (PRs). We identified 52 856 infants with maternal first trimester IIV exposure and 373 088 infants whose mothers were unexposed to IIV during first trimester. Prevalence (per 100 live births) for selected major structural birth defects was 1.6 among first trimester IIV exposed versus 1.5 among unexposed mothers. The adjusted PR was 1.02 (95% CI 0.94-1.10). Organ system-specific PRs were similar to the overall PR. First trimester maternal IIV exposure was not associated with an increased risk for selected major structural birth defects in this large cohort of singleton live births. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Associations between maternal periconceptional exposure to secondhand tobacco smoke and major birth defects.

    Science.gov (United States)

    Hoyt, Adrienne T; Canfield, Mark A; Romitti, Paul A; Botto, Lorenzo D; Anderka, Marlene T; Krikov, Sergey V; Tarpey, Morgan K; Feldkamp, Marcia L

    2016-11-01

    While associations between secondhand smoke and a few birth defects (namely, oral clefts and neural tube defects) have been noted in the scientific literature, to our knowledge, there is no single or comprehensive source of population-based information on its associations with a range of birth defects among nonsmoking mothers. We utilized data from the National Birth Defects Prevention Study, a large population-based multisite case-control study, to examine associations between maternal reports of periconceptional exposure to secondhand smoke in the household or workplace/school and major birth defects. The multisite National Birth Defects Prevention Study is the largest case-control study of birth defects to date in the United States. We selected cases from birth defect groups having >100 total cases, as well as all nonmalformed controls (10,200), from delivery years 1997 through 2009; 44 birth defects were examined. After excluding cases and controls from multiple births and whose mothers reported active smoking or pregestational diabetes, we analyzed data on periconceptional secondhand smoke exposure-encompassing the period 1 month prior to conception through the first trimester. For the birth defect craniosynostosis, we additionally examined the effect of exposure in the second and third trimesters as well due to the potential sensitivity to teratogens for this defect throughout pregnancy. Covariates included in all final models of birth defects with ≥5 exposed mothers were study site, previous live births, time between estimated date of delivery and interview date, maternal age at estimated date of delivery, race/ethnicity, education, body mass index, nativity, household income divided by number of people supported by this income, periconceptional alcohol consumption, and folic acid supplementation. For each birth defect examined, we used logistic regression analyses to estimate both crude and adjusted odds ratios and 95% confidence intervals for both

  6. Maternal and perinatal aspects of birth defects: a case-control study

    Directory of Open Access Journals (Sweden)

    Geiza Cesar Nhoncanse

    2014-03-01

    Full Text Available Objective: To assess the prevalence of congenital defects and to investigate their maternal and perinatal associated aspects by reviewing Birth Certificates. Methods: Among all born alive infants from January 2003 to December 2007 in Maternidade da Santa Casa de Misericórdia of São Carlos, Southeast Brazil (12,199 infants, cases were identified as the newborns whose Birth Certificates registered any congenital defect. The same sex neonate born immediately after the case was chosen as a control. In total, 13 variables were analyzed: six were maternal related, three represented labor and delivery conditions and four were linked to fetal status. The chi-square and Fisher's exact tests were used to compare the variables, being significant p<0.05. Results: The prevalence of congenital defects was 0.38% and the association of two or more defects represented 32% of all cases. The number of mothers whose education level was equal or less than eight years was significantly higher among the group with birth defects (p=0.047. A higher frequency of prematurity (p<0.001 and cesarean delivery (p=0.004 was observed among children with birth defects. This group also showed lower birth weight and Apgar scores in the 1st and the 5th minute (p<0.001. Conclusions: The prevalence of congenital defect of 0.38% is possibly due to underreporting. The defects notified in the Birth Certificates were only the most visible ones, regardless of their severity. There is a need of adequate epidemiological monitoring of birth defects in order to create and expand prevention and treatment programs.

  7. Analytic Methods for Evaluating Patterns of Multiple Congenital Anomalies in Birth Defect Registries.

    Science.gov (United States)

    Agopian, A J; Evans, Jane A; Lupo, Philip J

    2018-01-15

    It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA patterns have been recognized and described (e.g., known syndromes), others have not been identified or characterized. Elucidating these patterns may result in a better understanding of the etiologies of these MCAs. This article reviews the literature with regard to analytic methods that have been used to evaluate patterns of MCAs, in particular those using birth defect registry data. A popular method for MCA assessment involves a comparison of the observed to expected ratio for a given combination of MCAs, or one of several modified versions of this comparison. Other methods include use of numerical taxonomy or other clustering techniques, multiple regression analysis, and log-linear analysis. Advantages and disadvantages of these approaches, as well as specific applications, were outlined. Despite the availability of multiple analytic approaches, relatively few MCA combinations have been assessed. The availability of large birth defects registries and computing resources that allow for automated, big data strategies for prioritizing MCA patterns may provide for new avenues for better understanding co-occurrence of birth defects. Thus, the selection of an analytic approach may depend on several considerations. Birth Defects Research 110:5-11, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  8. Acardia : Epidemiologic Findings and Literature Review From the International Clearinghouse for Birth Defects Surveillance and Research

    NARCIS (Netherlands)

    Botto, Lorenzo D.; Feldkamp, Marcia L.; Amar, Emmanuelle; Carey, John C.; Castilla, Eduardo E.; Clementi, Maurizio; Cocchi, Guido; de Walle, Hermien E. K.; Halliday, Jane; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Marengo, Lisa K.; Martinez-Frias, Maria-Luisa; Merlob, Paul; Morgan, Margery; Luna Munoz, Leonora; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Mastroiacovo, Pierpaolo

    2011-01-01

    Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth

  9. Racial/ethnic variations in the prevalence of selected major birth defects, metropolitan Atlanta, 1994-2005.

    Science.gov (United States)

    Kucik, James E; Alverson, Clinton J; Gilboa, Suzanne M; Correa, Adolfo

    2012-01-01

    Birth defects are the leading cause of infant mortality and are responsible for substantial child and adult morbidity. Documenting the variation in prevalence of birth defects among racial/ethnic subpopulations is critical for assessing possible variations in diagnosis, case ascertainment, or risk factors among such groups. We used data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth defects registry with active case ascertainment. We estimated the racial/ethnic variation in prevalence of 46 selected major birth defects among live births, stillbirths, and pregnancy terminations at >20 weeks gestation among mothers residing in the five central counties of metropolitan Atlanta between 1994 and 2005, adjusting for infant sex, maternal age, gravidity, and socioeconomic status (SES). We also explored SES as a potential effect measure modifier. Compared with births to non-Hispanic white women, births to non-Hispanic black women had a significantly higher prevalence of five birth defects and a significantly lower prevalence of 10 birth defects, while births to Hispanic women had a significantly higher prevalence of four birth defects and a significantly lower prevalence of six birth defects. The racial/ethnic disparities in the prevalence of some defects varied by SES, but no clear pattern emerged. Racial/ethnic disparities were suggested in 57% of included birth defects. Disparities in the prevalence of birth defects may result from different underlying genetic susceptibilities; exposure to risk factors; or variability in case diagnosis, ascertainment, or reporting among the subpopulations examined. Policies that improve early diagnosis of birth defects could reduce associated morbidity and mortality.

  10. Using bayesian models to assess the effects of under-reporting of cannabis use on the association with birth defects, national birth defects prevention study, 1997-2005

    NARCIS (Netherlands)

    Gelder, M.M.H.J. van; Donders, A.R.T.; Devine, O.; Roeleveld, N.; Reefhuis, J.; Prevention, S. National Birth

    2014-01-01

    BACKGROUND: Studies on associations between periconceptional cannabis exposure and birth defects have mainly relied on self-reported exposure. Therefore, the results may be biased due to under-reporting of the exposure. The aim of this study was to quantify the potential effects of this form of

  11. Birth defects and congenital health risks in children conceived through assisted reproduction technology (ART): a meeting report.

    Science.gov (United States)

    2014-08-01

    Assisted Reproduction Treatment (ART) is here to stay. This review addresses the parental background of birth defects, before, during and after conception and focuses both on the underlying subfertility and on the question whether ART as a treatment is an additional contributing factor. Searches were performed in Medline and other databases. Summaries were discussed in a Delphi panel set-up by the European Society of Human Reproduction and Embryology (ESHRE). Several birth defects and adult diseases arise during the earliest stages of ovarian development and oocyte differentiation: this is the case of cleft palate disorders in offspring from female rat exposed to Dioxin during fetal life or the polycystic ovary diseases in female offspring (primates) exposed to elevated androgen concentration during fetal life. Human oocytes and embryos often fail to stop the propagation of aneuploid cells but maintain their ability to repair DNA damages including those introduced by the fertilizing sperm. There is a 29 % increased risk of birth defects in the newborns spontaneously conceived by subfertile couples and the risk is further increased (34 %) when conception is achieved by treating infertlity with ART (Danish IVF Registry). Periconceptional conditions are critical for ART babies: their birth weight is in general smaller (Norvegian Registry) but a more prolonged culture time doubled the number of large babies (Finnish Registry). The long-term developmental effects of ART on child and subsequent health as an adult remains a subject worthy of futher monitoring and investigation.

  12. Human diseases associated with defective DNA repair

    International Nuclear Information System (INIS)

    Friedberg, E.C.; Ehmann, U.K.; Williams, J.I.

    1979-01-01

    The observations on xeroderma pigmentosum (XP) cells in culture were the first indications of defective DNA repair in association with human disease. Since then, a wealth of information on DNA repair in XP, and to a lesser extent in other diseases, has accumulated in the literature. Rather than clarifying the understanding of DNA repair mechanisms in normal cells and of defective DNA repair in human disease, the literature suggests an extraordinary complexity of both of the phenomena. In this review a number of discrete human diseases are considered separately. An attempt was made to systematically describe the pertinent clinical features and cellular and biochemical defects in these diseases, with an emphasis on defects in DNA metabolism, particularly DNA repair. Wherever possible observations have been correlated and unifying hypotheses presented concerning the nature of the basic defect(s) in these diseases. Discussions of the following diseases are presented: XP, ataxia telangiectasia; Fanconi's anemia; Hutchinson-Gilford progeria syndrome; Bloom's syndrome, Cockayne's syndrome; Down's syndrome; retinoblastoma; chronic lymphocytic leukemia; and other miscellaneous human diseases with possble DNA repair defects

  13. Prevalence of birth defects and risk-factor analysis from a population-based survey in Inner Mongolia, China

    Directory of Open Access Journals (Sweden)

    Zhang Xingguang

    2012-08-01

    Full Text Available Abstract Background Birth Defects are a series of diseases that seriously affect children's health. Birth defects are generally caused by several interrelated factors. The aims of the article is to estimate the prevalence rate and types of birth defects in Inner Mongolia, China, to compare socio-demographic characteristics among the children with birth defects and to analyze the association between risk factors and birth defects. Methods Data used in this study were obtained through baseline survey of Inner Mongolia Birth Defects Program, a population-based survey conducted from 2005 to 2008. The survey used cluster sampling method in all 12 administrative districts of Inner Mongolia. Sampling size is calculated according to local population size at a certain percentage. All live births, stillbirths and abortions born from October 2005 to September 2008, whose families lived in Inner Mongolia at least one year, were included. The cases of birth defects were diagnosed by the clinical doctors according to their experiences with further laboratory tests if needed. The inclusion criteria of the cases that had already dead were decided according to death records available at local cites. We calculated prevalence rate and 95% confidence intervals of different groups. Outcome variable was the occurrence of birth defects and associations between risk factors and birth defects were analyzed by using Poisson regression analysis. Results 976 children with birth defects were diagnosed. The prevalence rate of birth defects was 156.1 per 10000 births (95%CI: 146.3-165.8. The prevalence rate of neural tube defect (20.1 per 10000 births including anencephaly(6.9 per 10000, spina bifida (10.6 per 10000, and encephalocele (2.7 per 10000 was the highest, followed by congenital heart disease (17.1 per 10000. The relative risk (RR for maternal age less than 25 was 2.22 (95%CI: 2.05, 2.41. The RR of the ethnic Mongols was lower than Han Chinese (RR: 0.84; 95%CI: 0

  14. Association between risk of birth defects occurring level and arsenic concentrations in soils of Lvliang, Shanxi province of China

    International Nuclear Information System (INIS)

    Wu, Jilei; Zhang, Chaosheng; Pei, Lijun; Chen, Gong; Zheng, Xiaoying

    2014-01-01

    The risk of birth defects is generally accredited with genetic factors, environmental causes, but the contribution of environmental factors to birth defects is still inconclusive. With the hypothesis of associations of geochemical features distribution and birth defects risk, we collected birth records and measured the chemical components in soil samples from a high prevalence area of birth defects in Shanxi province, China. The relative risk levels among villages were estimated with conditional spatial autoregressive model and the relationships between the risk levels of the villages and the 15 types of chemical elements concentration in the cropland and woodland soils were explored. The results revealed that the arsenic levels in cropland soil showed a significant association with birth defects occurring risk in this area, which is consistent with existing evidences of arsenic as a teratogen and warrants further investigation on arsenic exposure routine to birth defect occurring risk. - Highlights: • Association between soil geochemical components and birth defects risk was proposed. • The relative risk difference among villages were estimated with CAR model. • Arsenic levels in cropland showed a significant association to birth defect risk. • The finding warrants further investigation on arsenic as a teratogen. - The difference of risk levels estimate by spatial statistics to birth defect significantly associated with arsenic levels in cropland soils warrants further investigation

  15. Collection, use, and protection of population-based birth defects surveillance data in the united states.

    Science.gov (United States)

    Mai, Cara T; Law, David J; Mason, Craig A; McDowell, Bradley D; Meyer, Robert E; Musa, Debra

    2007-12-01

    Birth defects surveillance systems collect population-based birth defects data from multiple sources to track trends in prevalence, identify risk factors, refer affected families to services, and evaluate prevention efforts. Strong state and federal public health and legal mandates are in place to govern the collection and use of these data. Despite the prima facie appeal of "opt-in" and similar strategies to those who view data collection as a threat to privacy, the use of these strategies in lieu of population-based surveillance can severely limit the ability of public health agencies to accurately access the health status of a group within a defined geographical area. With the need for population-based data central to their mission, birth defects programs around the country take their data stewardship role seriously, recognizing both moral and legal obligations to protect the data by employing numerous safeguards. Birth defects surveillance systems are shaped by the needs of the community they are designed to serve, with the goal of preventing birth defects or alleviating the burdens associated with them. (c) 2007 Wiley-Liss, Inc.

  16. Heterogeneous rates for birth defects in Latin America: hints on causality.

    Science.gov (United States)

    Lopez-Camelo, J S; Orioli, I M

    1996-01-01

    The aim of this work was to disclose risk factors associated with birth defects which were heterogeneously distributed in the different geographic regions sampled by the Latin American Collaborative Study of Congenital Malformations (ECLAMC). The material included 2,159,065 hospital births, delivered in the 1967-1989 period in 24 geographic regions of Latin America. Birth defect types with 50 case-control pairs or more were analyzed. A risk factor was defined as that available variable with differential geographic rates, correlated with those of a given birth defect type. Identified factors were tested by case-control multivariate logistic regression to confirm their role in the occurrence of the defect. Altitude and maternal acute illness during first trimester of pregnancy, named influenza, were risk factors for microtia. Prenatal drug exposure, mainly sex hormones, were connected with the occurrence of hypospadias in low frequency areas, while Native ancestry was a "protective" factor in the same regions. Acute (influenza), and chronic (epilepsy and syphilis) maternal illness during first trimester of pregnancy and gravidity higher than four were risk factors for cleft lip. The independence of these variables from maternal age suggested that low maternal socioeconomic level could explain the high birth defect order and, perhaps, syphilis in mothers. Postaxial polydactyly was associated with parental consanguinity, as well as Afro-American ancestry, suggesting genetic heterogeneity.

  17. Magnitude of Birth Defects in Central and Northwest Ethiopia from 2010-2014: A Descriptive Retrospective Study.

    Directory of Open Access Journals (Sweden)

    Molla Taye

    Full Text Available Birth defects are defined as structural and functional defects that develop during the organogenesis period and present at birth or detected later in life. They are one of the leading causes of infant and child mortality, morbidity, and long term disability. The magnitude of birth defects varies from country to country and from race/ethnicity to race/ethnicity, and about 40-60% of their causes are unknown. The known causes of birth defects are genetic and environmental factors which may be prevented. For various reasons, there is lack of data and research on birth defects in Ethiopia.The major objective of this study is to estimate the magnitude of birth defects in Ethiopia.A hospital based, retrospective, cross sectional, descriptive study was conducted. The subjects were babies/children aged 0-17years who visited selected hospitals between 2010 and 2014. Fourteen hospitals (8 in Addis Ababa, 6 in Amhara Region were selected purposively based on case load. A data retrieving form was developed to extract relevant information from record books.In the hospitals mentioned, 319,776 various medical records of children aged 0-17years were found. Of these, 6,076 (1.9% with 95% CI: 1.85%-1.95% children were diagnosed as having birth defects. The majority (58.5% of the children were male and 41.5% female. A slightly more than half (51.1% of the children were urban dwellers, while 48.9% were from rural areas. Among the participants of the study the proportion of birth defects ranged as follows: orofacial (34.2%, neural tube (30.8%, upper and lower limb (12.8%, cardiovascular system (10.3%, digestive system and abdominal wall (4.8%, unspecified congenital malformations (2.5%, Down syndrome (2%, genitourinary system (2%, head, face, and neck defects (0.4%, and others (0.3%. The trend of birth defects increased linearly over time [Extended Mantel-Haenszel chi square for linear trend = 356.7 (P<0.0001]. About 275 (4.5% of the cases had multiple (associated

  18. Birth Defects Associated with Perturbations in Pre-implantation, Gastrulation & Axis Extension: from Conjoined Twinning to Caudal Dysgenesis

    Science.gov (United States)

    Ferrer-Vaquer, Anna; Hadjantonakis, Anna-Katerina

    2012-01-01

    Congenital malformations represent approximately 3 in 100 live births within the human population. Understanding their pathogenesis and ultimately formulating effective treatments is underpinned by knowledge of the events and factors that regulate normal embryonic development. Studies in model organisms, primarily in the mouse, the most prominent genetically tractable mammalian model, have equipped us with a rudimentary understanding of mammalian development from early lineage commitment to morphogenetic processes. In this way information provided by studies in the mouse can, in some cases, be used to draw parallels with other mammals, including human. Here we provide an overview of our current understanding of the general sequence of developmental events from early cell cleavages to gastrulation and axis extension occurring in human embryos. We will also review some of the rare birth defects occurring at these stages, in particular those resulting in conjoined twinning or caudal dysgenesis. PMID:24014416

  19. Birth defects in perinatal infants in areas contiguous to Hongyanhe Nuclear Power Plant before its normal operation

    International Nuclear Information System (INIS)

    Zhou Ling; Yin Zhihua; Han Zhonghui

    2011-01-01

    Objective: To understand the status of birth defects among the perinatal infants in the areas contiguous to Hongyanhe nuclear power plant before its normal operation, so as to provide background information for the evaluation of the impact of nuclear power plant on birth defects. Methods: From 1 October 1995 to 30 September 2009 the midwifery units at second class and above of Wafangdian City were asked to be in charge of recording the birth defects among the perinatal infants born during this period within the range of 50 km around the Hongyanhe nuclear power plant. Results: The total number of birth defects was 697, and the maternal number Was 83779. The average defect rate Was 83.20/10 4 . There were significant differences in the birth defect rate among different years (χ 2 =39.54, P<0.05), however, without linear trend therein,and among the survey areas (χ 2 =15.36, P<0.05) as well. The top five birth defects were congenital heart disease (148 cases), cleft lip with cleft palate (67 cases), congenital hydrocephalus (63 cases), and spina bifida (37 cases) and cleft lip (36 cases). Conclusions: The birth defect rate within the range of 50 km around the Hongyanhe nuclear power plant is lower than that of the region of Liaoning Province and the national rate of birth defects. (authors)

  20. Epidemiology of birth defects, perinatal mortality and thyroid cancer before and after the Chernobyl catastrophe

    International Nuclear Information System (INIS)

    Frentzel-Beyme, R.; Scherb, H.

    2007-01-01

    Spatial and temporal trends of birth defects and perinatal mortality in Germany and Europe as well as in least and most contaminated regions have been compared and investigated by trends. In numerous data sets, especially from northern and eastern Europe, positive and significant trend variations with upward 'disturbances' in temporal relation associated with the Chernobyl accident 1986 have been identified and spatial associations with regional fallout have been found. A surprisingly consistent picture evolves of significantly raised stillbirth rates after Chernobyl of ca. 5 % in Poland, ca. 10 % in parts of Germany and Sweden, ca. 20 % in Denmark and Finland, and up to ca. 30% in Iceland and Hungary. Low as compared to higher contaminated regions show weaker or stronger effects, respectively. The additional relative risks for birth defects are in the same order of magnitude as the additional relative risks for stillbirth, namely 0,5%-20 %/kBq·m 2 . Using well-known conversion coefficients, the excess relative risk of 1 %/kBq·m 2 translates theoretically to a preliminary relative risk of 1,6/mSv/a. The incidence of thyroid carcinoma among children affected by Chernobyl fallout has increased dramatically in certain parts of Europe. Less evidence exists for a similar effect among adolescents and adults. The cancer registry of the Czech Republic provides an opportunity to study various determinants of the occurrence of thyroid cancer. After the Chernobyl accident, the thyroid cancer incidence of the Czech Republic reveals an additional annual increase of up to 5% depending on age and gender. The additional increases of thyroid cancer in the whole population of the Czech Republic are consistent with reports from other countries. To investigate trends in the sex distribution of newborns before and after the Chernobyl accident, gender-specific annual birth statistics were obtained from the Czech Republic, Denmark, Finland, Germany, Hungary, Norway, Poland, and Sweden

  1. Proceedings of the Conference on Birth Defects for Educators (May 4, 1978).

    Science.gov (United States)

    Davidson, Michael S., Ed.; Davidson, Mary W., Ed.

    Six papers from a 1978 conference on birth defects focus on prevention. G. Stickle ("The Health of America's Babies: How Do We Stack Up?'" reviews risk in pregnancy, cites inadequate prenatal care and maternal nutrition, and discusses examples of how the United States is not applying its knowledge of how to improve pregnancy outcome. In "Genetic…

  2. BIRTH DEFECTS IN FOUR U.S. WHEAT-PRODUCING STATES

    Science.gov (United States)

    Birth Defects in Four U.S. Wheat - Producing StatesDina M. Schreinemachers, National Health and Environmental Effects Research Laboratory, Office of Research and Development, U.S. Environmental Protection Agency, Research Triangle Park, NC 27711Wheat agriculture in Mi...

  3. Effect of consanguinity on birth defects in Saudi women; results from a nested case-control study

    DEFF Research Database (Denmark)

    Majeed-Saidan, Muhammad Ali; Ammari, Amer N; AlHashem, Amal M

    2015-01-01

    BACKGROUND: The role of consanguinity in the etiology of structural birth defects outside of chromosomal and inherited disorders has always been debated. We studied the independent role of consanguinity on birth defects in Saudi women with a high prevalence of consanguineous marriages. METHODS: T...

  4. Developing a database management system to support birth defects surveillance in Florida.

    Science.gov (United States)

    Salemi, Jason L; Hauser, Kimberlea W; Tanner, Jean Paul; Sampat, Diana; Correia, Jane A; Watkins, Sharon M; Kirby, Russell S

    2010-01-01

    The value of any public health surveillance program is derived from the ways in which data are managed and used to improve the public's health. Although birth defects surveillance programs vary in their case volume, budgets, staff, and objectives, the capacity to operate efficiently and maximize resources remains critical to long-term survival. The development of a fully-integrated relational database management system (DBMS) can enrich a surveillance program's data and improve efficiency. To build upon the Florida Birth Defects Registry--a statewide registry relying solely on linkage of administrative datasets and unconfirmed diagnosis codes-the Florida Department of Health provided funding to the University of South Florida to develop and pilot an enhanced surveillance system in targeted areas with a more comprehensive approach to case identification and diagnosis confirmation. To manage operational and administrative complexities, a DBMS was developed, capable of managing transmission of project data from multiple sources, tracking abstractor time during record reviews, offering tools for defect coding and case classification, and providing reports to DBMS users. Since its inception, the DBMS has been used as part of our surveillance projects to guide the receipt of over 200 case lists and review of 12,924 fetuses and infants (with associated maternal records) suspected of having selected birth defects in over 90 birthing and transfer facilities in Florida. The DBMS has provided both anticipated and unexpected benefits. Automation of the processes for managing incoming case lists has reduced clerical workload considerably, while improving accuracy of working lists for field abstraction. Data quality has improved through more effective use of internal edits and comparisons with values for other data elements, while simultaneously increasing abstractor efficiency in completion of case abstraction. We anticipate continual enhancement to the DBMS in the future

  5. What we don't know can hurt us: Nonresponse bias assessment in birth defects research.

    Science.gov (United States)

    Strassle, Paula D; Cassell, Cynthia H; Shapira, Stuart K; Tinker, Sarah C; Meyer, Robert E; Grosse, Scott D

    2015-07-01

    Nonresponse bias assessment is an important and underutilized tool in survey research to assess potential bias due to incomplete participation. This study illustrates a nonresponse bias sensitivity assessment using a survey on perceived barriers to care for children with orofacial clefts in North Carolina. Children born in North Carolina between 2001 and 2004 with an orofacial cleft were eligible for inclusion. Vital statistics data, including maternal and child characteristics, were available on all eligible subjects. Missing 'responses' from nonparticipants were imputed using assumptions based on the distribution of responses, survey method (mail or phone), and participant maternal demographics. Overall, 245 of 475 subjects (51.6%) responded to either a mail or phone survey. Cost as a barrier to care was reported by 25.0% of participants. When stratified by survey type, 28.3% of mail respondents and 17.2% of phone respondents reported cost as a barrier. Under various assumptions, the bias-adjusted estimated prevalence of cost as barrier to care ranged from 16.1% to 30.0%. Maternal age, education, race, and marital status at time of birth were not associated with subjects reporting cost as a barrier. As survey response rates continue to decline, the importance of assessing the potential impact of nonresponse bias has become more critical. Birth defects research is particularly conducive to nonresponse bias analysis, especially when birth defect registries and birth certificate records are used. Future birth defect studies which use population-based surveillance data and have incomplete participation could benefit from this type of nonresponse bias assessment. Birth Defects Research (Part A) 103:603-609, 2015. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  6. Folic Acid and Birth Defects: A Case Study (Iran

    Directory of Open Access Journals (Sweden)

    Saeid Dastgiri

    2015-07-01

    Full Text Available Background and Objectives : The aim of this study was to evaluate the impact of using folic acid during pregnancy for the reduction of neural tube defects (NTDs in the northwest region of Iran. Material and Methods : In this study, 243 pregnant women that were identified by medical diagnostic tests as having a fetus with some types of congenital anomalies were evaluated. They were referred to Legal Medicine Organization of East Azarbaijan province to get permission for therapeutic termination of pregnancy. Results : The prevalence of NTDs among pregnant women who were referred for therapeutic termination of pregnancy was 24.7%. Consumption of folic acid prevented NTDs by 79% (Odds Ratio = 0.21, CI 95%: 0.12–0.40 and 94% (Odds Ratio = 0.06, CI 95%: 0.03–0.15 compared to pregnancies complicated by other anomalies and normal pregnancies, respectively. Hydrops fetalis, hydrocephaly, Down syndrome and limb anomalies did not have any significant association with use folic acid. Conclusion : Along with the advice for the consumption of folic acid for pregnant women, they should be offered prenatal screening or diagnostic tests to identify fetal abnormalities for possible termination of pregnancy for maternal and child health promotion. ​

  7. First-trimester exposure to metformin and risk of birth defects: a systematic review and meta-analysis.

    Science.gov (United States)

    Cassina, Matteo; Donà, Marta; Di Gianantonio, Elena; Litta, Pietro; Clementi, Maurizio

    2014-01-01

    their pregnancy. Regarding type 2 diabetic women, we did not identify a sufficient number of studies with metformin exposure during the first trimester to proceed with the meta-analysis. There is currently no evidence that metformin is associated with an increased risk of major birth defects in women affected by PCOS and treated during the first trimester. However larger ad hoc studies are warranted in order to definitely confirm the safety and efficacy of this drug in pregnancy. © The Author 2014. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  8. Spatial distribution of orofacial cleft defect births in Harris County, Texas, 1990 to 1994, and historical evidence for the presence of low-level radioactivity in tap water.

    Science.gov (United States)

    Cech, Irina; Burau, Keith D; Walston, Jane

    2007-06-01

    While both ionizing and nonionizing radiation are known to impair human reproductive capacity, the role of low-level domestic radiation continues to be an unsettled issue. We examined the geostatistical distribution (residential longitude and latitude) of orofacial cleft birth cases adjusted for the underlying population distribution. Furthermore, we examined the cleft birth rates enumerated by zip codes for possible associations with levels of radium and radon in drinking water. Cleft births and unaffected live births in Harris County, Texas, from 1990 to 1994, were geocoded by residential addresses and tested for spatial clusters using the space-time clustering program SaTScan. Historical sample data on local variations in water quality facilitated the assessment of the association of orofacial cleft defect births with low-level radiation exposure. A cluster of significantly greater than expected numbers of cleft defect births was identified in northwest Harris County, (relative risk = 3.0, P = 0.043), where the presence of elevated levels of radium (> 3 pCi/L) and radon (> 300 pCi/L) in the tap water has been known since the 1980s. Despite the ecological design of the study, lacking individual exposure measurements for cleft birth residences, there was strong suggestive evidence of an association between elevated radiation levels in tap water and elevated cleft birth prevalence rates by zip codes. Attention of physicians is invited to environmental causes as potential risk factors for orofacial cleft. This would aid in genetic counseling and the development of future preventive measures.

  9. Birth Defects Among Fetuses and Infants of US Women With Evidence of Possible Zika Virus Infection During Pregnancy.

    Science.gov (United States)

    Honein, Margaret A; Dawson, April L; Petersen, Emily E; Jones, Abbey M; Lee, Ellen H; Yazdy, Mahsa M; Ahmad, Nina; Macdonald, Jennifer; Evert, Nicole; Bingham, Andrea; Ellington, Sascha R; Shapiro-Mendoza, Carrie K; Oduyebo, Titilope; Fine, Anne D; Brown, Catherine M; Sommer, Jamie N; Gupta, Jyoti; Cavicchia, Philip; Slavinski, Sally; White, Jennifer L; Owen, S Michele; Petersen, Lyle R; Boyle, Coleen; Meaney-Delman, Dana; Jamieson, Denise J

    2017-01-03

    Understanding the risk of birth defects associated with Zika virus infection during pregnancy may help guide communication, prevention, and planning efforts. In the absence of Zika virus, microcephaly occurs in approximately 7 per 10 000 live births. To estimate the preliminary proportion of fetuses or infants with birth defects after maternal Zika virus infection by trimester of infection and maternal symptoms. Completed pregnancies with maternal, fetal, or infant laboratory evidence of possible recent Zika virus infection and outcomes reported in the continental United States and Hawaii from January 15 to September 22, 2016, in the US Zika Pregnancy Registry, a collaboration between the CDC and state and local health departments. Laboratory evidence of possible recent Zika virus infection in a maternal, placental, fetal, or infant sample. Birth defects potentially Zika associated: brain abnormalities with or without microcephaly, neural tube defects and other early brain malformations, eye abnormalities, and other central nervous system consequences. Among 442 completed pregnancies in women (median age, 28 years; range, 15-50 years) with laboratory evidence of possible recent Zika virus infection, birth defects potentially related to Zika virus were identified in 26 (6%; 95% CI, 4%-8%) fetuses or infants. There were 21 infants with birth defects among 395 live births and 5 fetuses with birth defects among 47 pregnancy losses. Birth defects were reported for 16 of 271 (6%; 95% CI, 4%-9%) pregnant asymptomatic women and 10 of 167 (6%; 95% CI, 3%-11%) symptomatic pregnant women. Of the 26 affected fetuses or infants, 4 had microcephaly and no reported neuroimaging, 14 had microcephaly and brain abnormalities, and 4 had brain abnormalities without microcephaly; reported brain abnormalities included intracranial calcifications, corpus callosum abnormalities, abnormal cortical formation, cerebral atrophy, ventriculomegaly, hydrocephaly, and cerebellar abnormalities

  10. Cancer and birth defects surveillance system for communities around the Savannah River Site: Phase 2 -- Birth defects. Technical progress report, year 01

    International Nuclear Information System (INIS)

    Dunbar, J.B.

    1995-10-01

    The Savannah River Region Health Information System Birth Defects Registry (SRRHIS-BDR) began on September 30, 1994. As with the SRRHIS Cancer Registry, surveillance of the 12 Georgia counties was subcontracted to Emory University School of Public Health. Collaborative efforts between the Medical University of South Carolina (MUSC) and Emory University staffs have been characterized by warm relationships and commitment to developing a state of the art registry. As a result of early planning efforts, the authors were able to actually activate the data collection. As of the end of September 1995, partial data from the 1994 birth cohort and up-to-date data for the 1995 birth cohort had been collected on the South Carolina side. The Georgia Staff started later and have not yet caught up to the 1994 level. South Carolina was able to start earlier because they were fortunate to quickly recruit an abstractor. Also, by the end of the first year, an innovative automated data entry system for laptop computers was developed by the computer staff to facilitate and improve data collection

  11. Cancer and birth defects surveillance system for communities around the Savannah River Site: Phase 2 -- Birth defects. Technical progress report, year 01

    Energy Technology Data Exchange (ETDEWEB)

    Dunbar, J.B.

    1995-10-01

    The Savannah River Region Health Information System Birth Defects Registry (SRRHIS-BDR) began on September 30, 1994. As with the SRRHIS Cancer Registry, surveillance of the 12 Georgia counties was subcontracted to Emory University School of Public Health. Collaborative efforts between the Medical University of South Carolina (MUSC) and Emory University staffs have been characterized by warm relationships and commitment to developing a state of the art registry. As a result of early planning efforts, the authors were able to actually activate the data collection. As of the end of September 1995, partial data from the 1994 birth cohort and up-to-date data for the 1995 birth cohort had been collected on the South Carolina side. The Georgia Staff started later and have not yet caught up to the 1994 level. South Carolina was able to start earlier because they were fortunate to quickly recruit an abstractor. Also, by the end of the first year, an innovative automated data entry system for laptop computers was developed by the computer staff to facilitate and improve data collection.

  12. [Prevalence of birth defects according to the level of care in two hospitals, Cali, Colombia, 2012-2013].

    Science.gov (United States)

    Pachajoa, Harry; Villota, Vania A; Cruz, Luz Marina; Ariza, Yoseth

    2015-01-01

    Birth defects are morphologic alterations diagnosed prenatal or postnatally. Surveillance systems have been used to estimate the prevalence in high complexity care centers; however, the variation of the prevalence among different complexity care centers remains unknown. To compare the prevalence of birth defects among two different complexity care centers in Cali, Colombia. A descriptive hospital-based study following the methodology of the Latin American Collaborative Study of Congenital Malformations was conducted during 20 months in a medium complexity hospital and a high complexity hospital. During the study period, 7,140 births were attended of which 225 had at least one birth defect. The prevalence of these was of 1.7% (IC95% 1.3-2.0) and 7.4% (IC95% 6.2-8.7) for the medium complexity hospital and the high complexity hospital, respectively. The highest frequencies for the high complexity care center were: ventricular septal defect, 10%; congenital hydronephrosis, 7%; abdominal wall defects, 6%, and hydrocephalus, 5%, while for the medium complexity were: polydactyly, 15%; preauricular skin tags, 8%; congenital talipes equino varus, 7%, and hemangioma, 6%. The prevalence of birth defects among different complexity care centers varies in quantity, type and severity of the anomaly diagnosed. The surveillance of birth defects is a useful tool for any level of care. It allows estimating more accurately the prevalence of the city, as well being a base for the planning and targeting of resources according to the prevalence of different congenital defects.

  13. Construction of HMI Network System for Individualized Maternity Intervention Service against Birth Defects in Community

    Institute of Scientific and Technical Information of China (English)

    Xu-huai HU

    2007-01-01

    The paper expounds the community maternity service system against birth defects,from the viewpoint of individualized service in family planning. We have utilized modern information technology to develop health management information (HMI) network with individualized maternity, and to establish the community service system for intervention of birth defects. The service system applied the concept of modern health management information to implementing informational management for screening,treatment, following up, outcome monitoring, so as to provide a base for promotion of health, diagnosis, treatment as well as scientific research, with the prenatal screening of Down's syndrome as a model. The introduction to informational network during the processes of service has been carried out with regards to its composition, function and application, while introducing the effects of computerized case record individualized in prevention, management and research of Down's syndrome.

  14. Cancer and birth defects surveillance system for communities around the Savannah River Site. Annual progress report

    Energy Technology Data Exchange (ETDEWEB)

    Dunbar, J.B.

    1994-05-01

    The US DOE funded this grant to the Medical University of South Carolina for a cancer and birth defects registry for an initial three year period which was completed as of April 29, 1994. While this Technical Progress Report is prepared principally to document the activities of year 03, it also summarizes the accomplishments of the first two years in order to put into perspective the energy and progress of the program over the entire three year funding cycle.

  15. Traffic-Related Air Pollution and Selected Birth Defects in the San Joaquin Valley of California

    Science.gov (United States)

    Padula, Amy M.; Tager, Ira B.; Carmichael, Suzan L.; Hammond, S. Katharine; Yang, Wei; Lurmann, Frederick W.; Shaw, Gary M.

    2014-01-01

    BACKGROUND Birth defects are a leading cause of infant morbidity and mortality. Studies suggest associations between environmental contaminants and some structural anomalies, although evidence is limited and several anomalies have not been investigated previously. METHODS We used data from the California Center of the National Birth Defects Prevention Study and the Children's Health and Air Pollution Study to estimate the odds of 26 congenital birth defect phenotypes with respect to quartiles of seven ambient air pollutant and traffic exposures in California during the first 2 months of pregnancy, 1997 to 2006 (874 cases and 849 controls). We calculated odds ratios (adjusted for maternal race/ethnicity, education, and vitamin use; aOR) for 11 phenotypes that had at least 40 cases. RESULTS Few odds ratios had confidence intervals that did not include 1.0. Odds of esophageal atresia were increased for the highest versus lowest of traffic density (aOR = 2.8, 95% confidence interval [CI], 1.1–7.4) and PM10 exposure (aOR 4.9; 95% CI, 1.4–17.2). PM10 was associated with a decreased risk of hydrocephaly (aOR= 0.3; 95% CI, 0.1–0.9) and CO with decreased risk of anotia/microtia (aOR = 0.4; 95% CI, 0.2–0.8) and transverse limb deficiency (aOR = 0.4; 95% CI, 0.2–0.9), again reflecting highest versus lowest quartile comparisons. CONCLUSION Most analyses showed no substantive association between air pollution and the selected birth defects with few exceptions of mixed results. PMID:24108522

  16. Overview of Epidemiology, Genetics, Birth Defects, and Chromosome Abnormalities Associated With CDH

    Science.gov (United States)

    Pober, Barbara R.

    2010-01-01

    Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. PMID:17436298

  17. A Study of Handling Cytotoxic Drugs and Risk of Birth Defects in Offspring of Female Veterinarians

    Directory of Open Access Journals (Sweden)

    Adeleh Shirangi

    2014-06-01

    Full Text Available We examined the association of occupational exposure to handling cytotoxic drugs at work with risk of birth defects among a cohort of female veterinarians. This study is a follow up survey of 321 female participants (633 pregnancies who participated in the Health Risks of Australian Veterinarian project. Data on pregnancies and exposure during each pregnancy was obtained by self-administered mailed questionnaire. Female veterinarians handling cytotoxic drugs during their pregnancy had a two-fold increased risk of birth defects in their offspring (RR = 2.08, 95% CI (1.05–4.15. Results were consistent in subgroup analysis of those who graduated during the period of 1961 to 1980 (RR = 5.04, 95% CI (1.81, 14.03 and in those working specifically in small and large animal practice. There was no increased risk in the subgroup that graduated after 1980. Women with unplanned pregnancies were more likely to handle cytotoxic drugs on a daily basis (RR = 1.86, 95% CI, 1.00–3.48 and had a higher increased risk of birth defects than those who planned their pregnancies in recent graduates and in those who worked specifically in small animal practice (RR = 2.53, 95% CI, 1.18–5.42. This study suggests that the adverse effects of handling cytotoxic drugs in pregnant women may include an increased risk of birth defects. Pregnancy intention status is an important health behavior and should be considered in prenatal programs.

  18. Cancer and birth defects surveillance system for communities around the Savannah River Site. Annual progress report

    International Nuclear Information System (INIS)

    Dunbar, J.B.

    1994-05-01

    The US DOE funded this grant to the Medical University of South Carolina for a cancer and birth defects registry for an initial three year period which was completed as of April 29, 1994. While this Technical Progress Report is prepared principally to document the activities of year 03, it also summarizes the accomplishments of the first two years in order to put into perspective the energy and progress of the program over the entire three year funding cycle

  19. Effect of Concomitant Birth Defects and Genetic Anomalies on Infant Mortality in Tetralogy of Fallot.

    Science.gov (United States)

    Jernigan, Eric G; Strassle, Paula D; Stebbins, Rebecca C; Meyer, Robert E; Nelson, Jennifer S

    2017-08-15

    A substantial proportion of infants born with tetralogy of Fallot (TOF) die in infancy. A better understanding of the heterogeneity associated with TOF, including extracardiac malformations and chromosomal anomalies is vital to stratifying risk and optimizing outcomes during infancy. Using the North Carolina Birth Defects Monitoring Program, infants diagnosed with TOF and born between 2003 and 2012 were included. Kaplan-Meier survival curves were used to estimate cumulative 1-year mortality, stratified by the presence of concomitant birth defects (BDs) and chromosomal anomalies. Multivariable logistic regression was used to estimate the direct effect of each concomitant BD, after adjusting for all others. A total of 496 infants with TOF were included, and 15% (n = 76) died. The number of concomitant BD systems was significantly associated with the risk of death at 1-year, p < 0.0001. Specifically, the risk of mortality was 8% among infants with TOF with or without additional cardiac defects, 16% among infants with TOF and 1 extracardiac BD system, 19% among infants with 2 extracardiac BD systems, and 39% among infants with ≥ 3 extracardiac BD systems. After adjustment, concomitant eye and gastrointestinal defects were significantly associated increased with 1-year mortality, odds ratio 2.83 (95% confidence interval, 1.08-7.32) and odds ratio 4.43 (95% confidence interval, 1.57, 12.45), respectively. Infants with trisomy 13 or trisomy 18 were also significantly more likely to die, p < 0.0001. Both concomitant BDs and genetic anomalies increase the risk of mortality among infants with TOF. Future studies are needed to identify the underlying genetic and socioeconomic risk factors for high-risk TOF infants. Birth Defects Research 109:1154-1165, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  20. Birth defects risk associated with maternal sport fish consumption: potential effect modification by sex of offspring.

    Science.gov (United States)

    Mendola, Pauline; Robinson, Luther K; Buck, Germaine M; Druschel, Charlotte M; Fitzgerald, Edward F; Sever, Lowell E; Vena, John E

    2005-02-01

    Contaminated sport fish consumption may result in exposure to various reproductive and developmental toxicants, including pesticides and other suspected endocrine disruptors. We investigated the relation between maternal sport fish meals and risk of major birth defects among infants born to members of the New York State (NYS) Angler Cohort between 1986 and 1991 (n=2237 births). Birth defects (n=125 cases) were ascertained from both newborn medical records and the NYS Congenital Malformations Registry. For sport fish meals eaten during pregnancy, the odds ratio (OR) for all major malformations combined was slightly elevated for or =2 meals/month (OR=1.51, CI=0.74, 3.09), with no meals during pregnancy as the reference category. Higher ORs were consistently observed among male offspring compared with females. For > or =2 meals/month, the risk for males was significantly elevated (males: OR=3.01, CI: 1.2, 7.5; females: OR=0.73, CI: 0.2, 2.4). Exposure during pregnancy and effect modification by infants sex could be important considerations for future studies of birth outcomes associated with endocrine disruptors.

  1. Birth defects risk associated with maternal sport fish consumption: potential effect modification by sex of offspring

    International Nuclear Information System (INIS)

    Mendola, Pauline; Robinson, L.K.; Buck, G.M.; Druschel, C.M.; Fitzgerald, E.F.; Sever, L.E.; Vena, J.E.

    2005-01-01

    Contaminated sport fish consumption may result in exposure to various reproductive and developmental toxicants, including pesticides and other suspected endocrine disruptors. We investigated the relation between maternal sport fish meals and risk of major birth defects among infants born to members of the New York State (NYS) Angler Cohort between 1986 and 1991 (n=2237 births). Birth defects (n=125 cases) were ascertained from both newborn medical records and the NYS Congenital Malformations Registry. For sport fish meals eaten during pregnancy, the odds ratio (OR) for all major malformations combined was slightly elevated for ≤1 meal/month (OR=1.26, 95% confidence interval (CI): 0.84, 1.89) and ≥2 meals/month (OR=1.51, CI=0.74, 3.09), with no meals during pregnancy as the reference category. Higher ORs were consistently observed among male offspring compared with females. For ≥2 meals/month, the risk for males was significantly elevated (males: OR=3.01, CI: 1.2, 7.5; females: OR=0.73, CI: 0.2, 2.4). Exposure during pregnancy and effect modification by infants sex could be important considerations for future studies of birth outcomes associated with endocrine disruptors

  2. Disease Human - MDC_LowBirthWeight

    Data.gov (United States)

    NSGIC Local Govt | GIS Inventory — Polygon feature class based on Zip Code boundaries showing the percentage of babies born in Miami-Dade County in 2006 with low birth weights. Low birth weight is...

  3. Birth Defects

    Science.gov (United States)

    ... how eye loss occurs in blind cavefish Podcast: DNA Day: Battling Brittle Bone Disease Media Advisory: NIH researchers find ... OUTREACH Safe to Sleep® National Child & Maternal Health Education Program RELATED WEBSITES ...

  4. Disinfection By-Product Exposures and the Risk of Specific Cardiac Birth Defects

    Science.gov (United States)

    Wright, J. Michael; Evans, Amanda; Kaufman, John A.; Rivera-Núñez, Zorimar; Narotsky, Michael G.

    2016-01-01

    Background: Epidemiological studies suggest that women exposed to disinfection by-products (DBPs) have an increased risk of delivering babies with cardiovascular defects (CVDs). Objective: We examined nine CVDs in relation to categorical DBP exposures including bromoform, chloroform, dibromochloromethane (DBCM), bromodichloromethane (BDCM), monobromoacetic acid (MBAA), dichloroacetic acid (DCAA), trichloroacetic acid (TCAA), and summary DBP measures (HAA5, THMBr, THM4, and DBP9). Methods: We calculated adjusted odds ratios (aORs) in a case–control study of birth defects in Massachusetts with complete quarterly 1999–2004 trihalomethane (THM) and haloacetic acid (HAA) data. We randomly matched 10 controls each to 904 CVD cases based on week of conception. Weight-averaged aggregate first-trimester DBP exposures were assigned to individuals based on residence at birth. Results: We detected associations for tetralogy of Fallot and the upper exposure categories for TCAA, DCAA, and HAA5 (aOR range, 3.34–6.51) including positive exposure–response relationships for DCAA and HAA5. aORs consistent in magnitude were detected between atrial septal defects and bromoform (aOR = 1.56; 95% CI: 1.01, 2.43), as well as DBCM, chloroform, and THM4 (aOR range, 1.26–1.67). Ventricular septal defects (VSDs) were associated with the highest bromoform (aOR = 1.85; 95% CI: 1.20, 2.83), MBAA (aOR = 1.81; 95% CI: 0.85, 3.84), and DBCM (aOR = 1.54; 95% CI: 1.00, 2.37) exposure categories. Conclusions: To our knowledge, this is the first birth defect study to develop multi-DBP adjusted regression models as well as the first CVD study to evaluate HAA exposures and the second to evaluate bromoform exposures. Our findings, therefore, inform exposure specificity for the consistent associations previously reported between THM4 and CVDs including VSDs. Citation: Wright JM, Evans A, Kaufman JA, Rivera-Núñez Z, Narotsky MG. 2017. Disinfection by-product exposures and the risk of specific

  5. Methods for developing useful estimates of the costs associated with birth defects.

    Science.gov (United States)

    Case, Amy P; Canfield, Mark A

    2009-11-01

    Cost estimates for birth defects are useful to policy makers in deciding the best use of resources to prevent these conditions. Much of the effort in this area has focused on spina bifida, in part because cost savings can be estimated from folic acid-preventable cases. However, comprehensive cost-of-illness estimates for this condition may be too outdated, too general, or not applicable to individual states' environments. Using the live birth prevalence for spina bifida in Texas, we applied recent spina bifida cost estimates to approximate total lifetime medical and other costs for an average live birth cohort of spina bifida cases in Texas. In addition, we queried various government programs that provide services for persons with spina bifida to provide program-specific annual costs for this condition. Applying a recently published average lifetime medical cost of $635,000 per case of spina bifida to the average annual birth cohort of 120 Texas cases, an estimated $76 million in direct and indirect medical and other costs will be incurred in Texas over the life span of that cohort. Examples of estimated medical costs for one year are $5 million for infants using actual employer-paid insurance claims data and $6 million combined for children in two public sector programs. Stakeholders and state policy makers may look to state birth defects registries for useful cost data. Although comprehensive state-specific figures are not available, applying prevalence data to existing estimates and obtaining actual claims and program expenditures may help close this information gap.

  6. Birth order and human capital development: evidence from Ecuador

    NARCIS (Netherlands)

    de Haan, M.; Plug, E.; Rosero, J.

    2012-01-01

    In this paper we examine the effect of birth order on human capital development in Ecuador using a large national database together with self-collected survey data. Using family fixed effects models we find significant positive birth order effects; earlier born children stay behind in their human

  7. Birth order and human capital development: evidence from Ecuador

    NARCIS (Netherlands)

    de Haan, M.; Plug, E.; Rosero, J.

    2014-01-01

    In this paper we examine the effect of birth order on human capital development in Ecuador. Using family fixed effects models we find positive and persistent birth order effects; earlier-born children stay behind in their human capital development from infancy to adolescence. Turning to potential

  8. Birth prevalence for congenital limb defects in the northern Netherlands : A 30-year population-based study

    NARCIS (Netherlands)

    Golea-Vasluian, Ecaterina; van der Sluis, Corry K; van Essen, Anthonie J; Bergman, Jorieke E H; Dijkstra, Pieter U; Reinders-Messelink, Heleen A; de Walle, Hermien E K

    2013-01-01

    Background: Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964-1977 to 30.4/10,000 births in Scotland from 1964-1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other

  9. Associations Between Disinfection By-Product Exposures and Craniofacial Birth Defects.

    Science.gov (United States)

    Kaufman, John A; Wright, J Michael; Evans, Amanda; Rivera-Núñez, Zorimar; Meyer, Amy; Narotsky, Michael G

    2018-02-01

    The aim of this study was to examine associations between craniofacial birth defects (CFDs) and disinfection by-product (DBP) exposures, including the sum of four trihalomethanes (THM4) and five haloacetic acids (HAA5) (ie, DBP9). We calculated first trimester adjusted odds ratios (aORs) for different DBPs in a matched case-control study of 366 CFD cases in Massachusetts towns with complete 1999 to 2004 THM and HAA data. We detected elevated aORs for cleft palate with DBP9 (highest quintile aOR = 3.52; 95% CI: 1.07, 11.60), HAA5, trichloroacetic acid (TCAA), and dichloroacetic acid. We detected elevated aORs for eye defects with TCAA and chloroform. This is the first epidemiological study of DBPs to examine eye and ear defects, as well as HAAs and CFDs. The associations for cleft palate and eye defects highlight the importance of examining specific defects and DBPs beyond THM4.

  10. Lack of periconceptional vitamins or supplements that contain folic acid and diabetes mellitus-associated birth defects.

    Science.gov (United States)

    Correa, Adolfo; Gilboa, Suzanne M; Botto, Lorenzo D; Moore, Cynthia A; Hobbs, Charlotte A; Cleves, Mario A; Riehle-Colarusso, Tiffany J; Waller, D Kim; Reece, E Albert

    2012-03-01

    The purpose of this study was to examine the risk of birth defects in relation to diabetes mellitus and the lack of use of periconceptional vitamins or supplements that contain folic acid. The National Birth Defects Prevention Study (1997-2004) is a multicenter, population-based case-control study of birth defects (14,721 cases and 5437 control infants). Cases were categorized into 18 types of heart defects and 26 noncardiac birth defects. We estimated odds ratios for independent and joint effects of preexisting diabetes mellitus and a lack of periconceptional use of vitamins or supplements that contain folic acid. The pattern of odds ratios suggested an increased risk of defects that are associated with diabetes mellitus in the absence vs the presence of the periconceptional use of vitamins or supplements that contain folic acid. The lack of periconceptional use of vitamins or supplements that contain folic acid may be associated with an excess risk for birth defects due to diabetes mellitus. Published by Mosby, Inc.

  11. Impact of time to maternal interview on interview responses in the National Birth Defects Prevention Study.

    Science.gov (United States)

    Tinker, Sarah C; Gibbs, Cassandra; Strickland, Matthew J; Devine, Owen J; Crider, Krista S; Werler, Martha M; Anderka, Marlene T; Reefhuis, Jennita

    2013-06-01

    Prenatal exposures often are assessed using retrospective interviews. Time from exposure to interview may influence data accuracy. We investigated the association of time to interview (TTI) with aspects of interview responses in the National Birth Defects Prevention Study, a population-based case-control study of birth defects in 10 US states. Mothers completed a computer-assisted telephone interview 1.5-24 months after their estimated date of delivery. Proxy metrics for interview quality were whether certain exposures were reported, whether the start month of reported medication use or illness was reported, or whether responses were missing. Interaction by case status was assessed. Interviews were completed with 30,542 mothers (22,366 cases and 8,176 controls) who gave birth between 1997 and 2007. Mothers of cases were interviewed later than were mothers of controls (11.7 months vs. 9.5 months, respectively). In adjusted analyses, having a TTI that was greater than 6 months was associated with only a few aspects of interview responses (e.g., start month of pseudoephedrine use). Interaction by case-control status was observed for some exposures; mothers of controls had a greater reduction in interview quality with increased TTI in these instances (e.g., report of morning sickness, start month of acetaminophen use and ibuprofen use). The results suggest that TTI might impact interview responses; however, the impact may be minimal and specific to the type of exposure.

  12. Preventive program of birth defects: incidence of anencephaly in Maracaibo, Venezuela. 1993-1996 period

    International Nuclear Information System (INIS)

    Moreno Fuenmayor, H; Valera, V; Socorro Candanoza, L; Bracho, A; Herrera, M; Rodriguez, Z; Concho, E

    1996-01-01

    Incidence of anencephaly in the State of Zulia, and specifically in the Eastern Coast of Lake Maracaibo, an oil exploitation area, has been declared high since the beginning of the 80's, coincident with the generalized use of ultrasound as a diagnostic tool for fetal evaluation. Through the Birth Defects Preventive Program, established at the Hospital Chiquinquira in Maracaibo, we have developed a fourfold strategy for the study of birth defects: i) analysis of more than 32,332 ultrasound evaluations within the Ultrasound Service, between 1993 and 1996, ii) a case-control malformation registry beginning in 1995, iii) a study of malformed stillbirths at the Pathology Service, observed after 4232 deliveries within this hospital, and iv) a registry of over 638 mothers with high risk pregnancy for fetal defects detected at the prenatal clinic and carried out at the Perinatal Medical Genetics Service. As a reference population we study 345 medical histories obtained from the Medical Genetics and Prenatal Diagnostic Service at Hospital Coromoto, and oil companies related medical facility. This approach has led us to conclude that the incidence of anencephaly in the State of Zulia is 0.75/1000, significantly similar to that expected for most populations

  13. Baseline Prevalence of Birth Defects Associated with Congenital Zika Virus Infection - Massachusetts, North Carolina, and Atlanta, Georgia, 2013-2014.

    Science.gov (United States)

    Cragan, Janet D; Mai, Cara T; Petersen, Emily E; Liberman, Rebecca F; Forestieri, Nina E; Stevens, Alissa C; Delaney, Augustina; Dawson, April L; Ellington, Sascha R; Shapiro-Mendoza, Carrie K; Dunn, Julie E; Higgins, Cathleen A; Meyer, Robert E; Williams, Tonya; Polen, Kara N D; Newsome, Kim; Reynolds, Megan; Isenburg, Jennifer; Gilboa, Suzanne M; Meaney-Delman, Dana M; Moore, Cynthia A; Boyle, Coleen A; Honein, Margaret A

    2017-03-03

    Zika virus infection during pregnancy can cause serious brain abnormalities, but the full range of adverse outcomes is unknown (1). To better understand the impact of birth defects resulting from Zika virus infection, the CDC surveillance case definition established in 2016 for birth defects potentially related to Zika virus infection* (2) was retrospectively applied to population-based birth defects surveillance data collected during 2013-2014 in three areas before the introduction of Zika virus (the pre-Zika years) into the World Health Organization's Region of the Americas (Americas) (3). These data, from Massachusetts (2013), North Carolina (2013), and Atlanta, Georgia (2013-2014), included 747 infants and fetuses with one or more of the birth defects meeting the case definition (pre-Zika prevalence = 2.86 per 1,000 live births). Brain abnormalities or microcephaly were the most frequently recorded (1.50 per 1,000), followed by neural tube defects and other early brain malformations † (0.88), eye abnormalities without mention of a brain abnormality (0.31), and other consequences of central nervous system (CNS) dysfunction without mention of brain or eye abnormalities (0.17). During January 15-September 22, 2016, the U.S. Zika Pregnancy Registry (USZPR) reported 26 infants and fetuses with these same defects among 442 completed pregnancies (58.8 per 1,000) born to mothers with laboratory evidence of possible Zika virus infection during pregnancy (2). Although the ascertainment methods differed, this finding was approximately 20 times higher than the proportion of one or more of the same birth defects among pregnancies during the pre-Zika years. These data demonstrate the importance of population-based surveillance for interpreting data about birth defects potentially related to Zika virus infection.

  14. Birth prevalence of neural tube defects and orofacial clefts in India: a systematic review and meta-analysis.

    Directory of Open Access Journals (Sweden)

    Komal Preet Allagh

    Full Text Available In the last two decades, India has witnessed a substantial decrease in infant mortality attributed to infectious disease and malnutrition. However, the mortality attributed to birth defects remains constant. Studies on the prevalence of birth defects such as neural tube defects and orofacial clefts in India have reported inconsistent results. Therefore, we conducted a systematic review of observational studies to document the birth prevalence of neural tube defects and orofacial clefts.A comprehensive literature search for observational studies was conducted in MEDLINE and EMBASE databases using key MeSH terms (neural tube defects OR cleft lip OR cleft palate AND Prevalence AND India. Two reviewers independently reviewed the retrieved studies, and studies satisfying the eligibility were included. The quality of included studies was assessed using selected criteria from STROBE statement.The overall pooled birth prevalence (random effect of neural tube defects in India is 4.5 per 1000 total births (95% CI 4.2 to 4.9. The overall pooled birth prevalence (random effect of orofacial clefts is 1.3 per 1000 total births (95% CI 1.1 to 1.5. Subgroup analyses were performed by region, time period, consanguinity, and gender of newborn.The overall prevalence of neural tube defects from India is high compared to other regions of the world, while that of orofacial clefts is similar to other countries. The majority of studies included in the review were hospital based. The quality of these studies ranged from low to moderate. Further well-designed, high quality community-based observational studies are needed to accurately estimate the burden of neural tube defects and orofacial clefts in India.

  15. Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study.

    Science.gov (United States)

    Vasluian, Ecaterina; van der Sluis, Corry K; van Essen, Anthonie J; Bergman, Jorieke E H; Dijkstra, Pieter U; Reinders-Messelink, Heleen A; de Walle, Hermien E K

    2013-11-16

    Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964-1977 to 30.4/10,000 births in Scotland from 1964-1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other birth defects. The aim of this study is to describe the birth prevalence of CLD in the northern Netherlands. In a population-based, epidemiological study we investigated the birth prevalences of CLD for 1981-2010. Data were collected by the European Surveillance of Congenital Anomalies in the northern Netherlands (EUROCAT-NNL). We excluded malpositions, club foot, and dislocation/dysplasia of hips or knees. Trends were analysed for the 19-year period 1992-2010 using χ² tests, as well as CLD association with anomalies affecting other organs. The birth prevalence of CLD was 21.1/10,000 births for 1981-2010. There was an overall decrease in non-syndromic limb defects (P = 0.023) caused by a decrease in the prevalence of non-syndromic syndactyly (P CLD, 55% were males, 57% had isolated defects, 13% had multiple congenital anomalies (MCA), and 30% had a recognised syndrome. The upper:lower limb ratio was 2:1, and the left:right side ratio was 1.2:1. Cardiovascular and urinary tract anomalies were common in combination with CLD (37% and 25% of cases with MCA). Digestive-tract anomalies were significantly associated with CLD (P = 0.016). The birth prevalence of CLD in the northern Netherlands was 21.1/10,000 births. The birth prevalence of non-syndromic syndactyly dropped from 5.2/10,000 to 1.1/10,000 in 1992-2010.

  16. Are residents of mountain-top mining counties more likely to have infants with birth defects? The West Virginia experience.

    Science.gov (United States)

    Lamm, Steven H; Li, Ji; Robbins, Shayhan A; Dissen, Elisabeth; Chen, Rusan; Feinleib, Manning

    2015-02-01

    Pooled 1996 to 2003 birth certificate data for four central states in Appalachia indicated higher rates of infants with birth defects born to residents of counties with mountain-top mining (MTM) than born to residents of non-mining-counties (Ahern 2011). However, those analyses did not consider sources of uncertainty such as unbalanced distributions or quality of data. Quality issues have been a continuing problem with birth certificate analyses. We used 1990 to 2009 live birth certificate data for West Virginia to reassess this hypothesis. Forty-four hospitals contributed 98% of the MTM-county births and 95% of the non-mining-county births, of which six had more than 1000 births from both MTM and nonmining counties. Adjusted and stratified prevalence rate ratios (PRRs) were computed both by using Poisson regression and Mantel-Haenszel analysis. Unbalanced distribution of hospital births was observed by mining groups. The prevalence rate of infants with reported birth defects, higher in MTM-counties (0.021) than in non-mining-counties (0.015), yielded a significant crude PRR (cPRR = 1.43; 95% confidence interval [CI] = 1.36-1.52) but a nonsignificant hospital-adjusted PRR (adjPRR = 1.08; 95% CI = 0.97-1.20; p = 0.16) for the 44 hospitals. So did the six hospital data analysis ([cPRR = 2.39; 95% CI = 2.15-2.65] and [adjPRR = 1.01; 95% CI, 0.89-1.14; p = 0.87]). No increased risk of birth defects was observed for births from MTM-counties after adjustment for, or stratification by, hospital of birth. These results have consistently demonstrated that the reported association between birth defect rates and MTM coal mining was a consequence of data heterogeneity. The data do not demonstrate evidence of a "Mountain-top Mining" effect on the prevalence of infants with reported birth defects in WV. © 2014 Wiley Periodicals, Inc.

  17. Assessing bottled water nitrate concentrations to evaluate total drinking water nitrate exposure and risk of birth defects.

    Science.gov (United States)

    Weyer, Peter J; Brender, Jean D; Romitti, Paul A; Kantamneni, Jiji R; Crawford, David; Sharkey, Joseph R; Shinde, Mayura; Horel, Scott A; Vuong, Ann M; Langlois, Peter H

    2014-12-01

    Previous epidemiologic studies of maternal exposure to drinking water nitrate did not account for bottled water consumption. The objective of this National Birth Defects Prevention Study (NBDPS) (USA) analysis was to assess the impact of bottled water use on the relation between maternal exposure to drinking water nitrate and selected birth defects in infants born during 1997-2005. Prenatal residences of 1,410 mothers reporting exclusive bottled water use were geocoded and mapped; 326 bottled water samples were collected and analyzed using Environmental Protection Agency Method 300.0. Median bottled water nitrate concentrations were assigned by community; mothers' overall intake of nitrate in mg/day from drinking water was calculated. Odds ratios for neural tube defects, limb deficiencies, oral cleft defects, and heart defects were estimated using mixed-effects models for logistic regression. Odds ratios (95% CIs) for the highest exposure group in offspring of mothers reporting exclusive use of bottled water were: neural tube defects [1.42 (0.51, 3.99)], limb deficiencies [1.86 (0.51, 6.80)], oral clefts [1.43 (0.61, 3.31)], and heart defects [2.13, (0.87, 5.17)]. Bottled water nitrate had no appreciable impact on risk for birth defects in the NBDPS.

  18. Maternal residential proximity to chlorinated solvent emissions and birth defects in offspring: a case-control study.

    Science.gov (United States)

    Brender, Jean D; Shinde, Mayura U; Zhan, F Benjamin; Gong, Xi; Langlois, Peter H

    2014-11-19

    Some studies have noted an association between maternal occupational exposures to chlorinated solvents and birth defects in offspring, but data are lacking on the potential impact of industrial air emissions of these solvents on birth defects. With data from the Texas Birth Defects Registry for births occurring in 1996-2008, we examined the relation between maternal residential proximity to industrial air releases of chlorinated solvents and birth defects in offspring of 60,613 case-mothers and 244,927 control-mothers. Maternal residential exposures to solvent emissions were estimated with metrics that took into account residential distances to industrial sources and annual amounts of chemicals released. Logistic regression was used to generate odds ratios and 95% confidence intervals for the associations between residential proximity to emissions of 14 chlorinated solvents and selected birth defects, including neural tube, oral cleft, limb deficiency, and congenital heart defects. All risk estimates were adjusted for year of delivery and maternal age, education, race/ethnicity, and public health region of residence. Relative to exposure risk values of 0, neural tube defects were associated with maternal residential exposures (exposure risk values >0) to several types of chlorinated solvents, most notably carbon tetrachloride (adjusted odds ratio [aOR] 1.42, 95% confidence interval [CI] 1.09, 1.86); chloroform (aOR 1.40, 95% CI 1.04, 1.87); ethyl chloride (aOR 1.39, 95% CI 1.08, 1.79); 1,1,2-trichloroethane (aOR 1.56, 95% CI 1.11, 2.18); and 1,2,3-trichloropropane (aOR 1.49, 95% CI 1.08, 2.06). Significant associations were also noted between a few chlorinated solvents and oral cleft, limb deficiency, and congenital heart defects. We observed stronger associations between some emissions and neural tube, oral cleft, and heart defects in offspring of mothers 35 years or older, such as spina bifida with carbon tetrachloride (aOR 2.49, 95% CI 1.09, 5.72), cleft palate

  19. Birth defects data for 8 California counties by county, maternal age, maternal race/ethnicity, and infant gender for the years 2000-2006.

    Data.gov (United States)

    California Environmental Health Tracking Program — This dataset contains counts, rates, and confidence intervals of 12 selected birth defects among live births during 2000-2006 within eight California counties:...

  20. Should aggregate US Census data be used as a proxy for individual household income in a birth defects registry?

    Science.gov (United States)

    Marengo, Lisa; Ramadhani, Tunu; Farag, Noha H; Canfield, Mark A

    2011-01-01

    Birth Defects Registries do not have access to income data and low household income is associated with adverse pregnancy outcomes of stillbirth, preterm birth, and birth defects. We compared 1999 income data from the National Birth Defects Prevention Study (NBDPS) with 2000 Census block group income data for the residence location of these same mothers. We geocoded 339 case mothers and 121 control mothers and assessed household income among case and control mothers by using NBDPS and census block group data. Correlation and concordance were assessed between the 2 data sources' household income data. The household income distribution was similar between case and control mothers within each data source. Both case and control mothers in the NBDPS's lowest household income category (income than was documented in their census block group's median household income (p-valueincome data (control mothers, rs=0.53; case mothers, rs=0.32). There was also poor to fair concordance between the 2 data sources (control mothers, kw=0.28; 95% CI=0.19-0.37 and case mothers, kw=0.18; 95% CI=0.13-0.24). These findings demonstrate dissimilar household incomes between NBDPS and census block group data. Caution should be used if block-level data is used as a proxy for individual-level household incomes in population-based birth defects surveillance and research.

  1. Central Nervous System Birth Defects in Surgically Treated Infants in Sarajevo Region of Bosnia and Herzegovina

    Directory of Open Access Journals (Sweden)

    Selma Aličelebić

    2007-11-01

    Full Text Available Congenital anomalies of the central nervous system (CNS are common. The prevalence of these anomalies shows considerable geographical variation and female predominance. The aim of this work was to obtain the frequency of different CNS congenital anomalies types and their sex distribution among cases hospitalized in a Department of Neurosurgery, University of Sarajevo Clinics Center, Bosnia and Herzegovina, during the period January 2001 to December 2004. Retrospective study was carried out on the basis of the clinical records. Standard methods of descriptive statistics were performed for the data analysis. A total of 103 cases were surgically treated in the period from 2001 through 2004. Out of that number 56 (54,4% were female patients, while 47 (46,6% were male patients. Seven different CNS birth defect types were found in this investigation. These were: spina bifida (42 cases or 40,78%, congenital hydrocephalus (35 cases or 33,98%, arachnoid cyst (15 cases or 14,56%, Dandy-Walker syndrome (5 cases or 4,85%, dermoid cyst (4 cases or 3,88%, one of Arnold-Chiari syndrome (0,98% and one of encefalocele (0,98%. According to this investigation, CNS congenital birth defects were slightly higher in females (54,4%. The most frequent types were spina bifida (40,78% both in females (22,33% and in males (18,45%, hydrocephalus (33,98% and arachnoid cyst (14,56%. The anomalies of the other organ systems, associated with CNS anomalies obtained in this investigation, were pes equinovarus, cheiloshisis, cardiomegalia and palatoshisis. They were found in six cases (5,82%, equal in both sexes.

  2. Birth outcomes of cases with isolated atrial septal defect type II--a population-based case-control study.

    Science.gov (United States)

    Vereczkey, Attila; Kósa, Zsolt; Csáky-Szunyogh, Melinda; Urbán, Róbert; Czeizel, Andrew E

    2013-07-01

    In general, epidemiological studies have evaluated cases with congenital cardiovascular abnormalities together. The aim of this study is to describe the birth outcomes of cases with isolated/single atrial septal defect type II (ASD-II, i.e. only a fossa ovalis defect) after surgical correction or lethal outcome in the light of maternal sociodemographic data. Comparison of birth outcomes and maternal characteristics of cases with ASD-II and controls without defect. The population-based Hungarian Case-Control Surveillance of Congenital Abnormalities. Hungarian newborn infants with or without ASD-II. Medically recorded birth outcomes, maternal age and birth order were evaluated. Marital and employment status was based on maternal information. The lifestyle factors were analyzed in a subsample of mothers visited at home based on a personal interview with mothers and their close relatives, and the family consensus was accepted. Mean gestational age at delivery and birthweight, rate of preterm birth and low birthweight, maternal age, birth order, marital and employment status. The evaluation of 471 cases with ASD-II and 38,151 controls without any defects showed a female excess in cases with ASD-II, having shorter gestational age and lower mean birthweight, and thus a higher rate of preterm births and low birthweight. Intrauterine growth restriction and shorter gestational age were found in cases with ASD-II, particularly in female children. These factors may have a general developmental process in which there was not closure of the foramen ovale, thus echocardiographic screening of these babies might be of value. © 2012 The Authors Acta Obstetricia et Gynecologica Scandinavica © 2012 Nordic Federation of Societies of Obstetrics and Gynecology.

  3. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.

    Science.gov (United States)

    Happle, R

    1987-04-01

    A genetic concept is advanced to explain the origin of several sporadic syndromes characterized by a mosaic distribution of skin defects. It is postulated that these disorders are due to the action of a lethal gene surviving by mosaicism. The presence of the mutation in the zygote will lead to death of the embryo at an early stage of development. Cells bearing the mutation can survive only in a mosaic state, in close proximity with normal cells. The mosaic may arise either from a gametic half chromatid mutation or from an early somatic mutation. This concept of origin is proposed to apply to the Schimmelpenning-Feuerstein-Mims syndrome, the McCune-Albright syndrome, the Klippel-Trenaunay syndrome, the Sturge-Weber syndrome, and neurocutaneous melanosis. Moreover, this etiologic hypothesis may apply to two other birth defects that have recently been delineated, the Proteus syndrome (partial gigantism of hands or feet, hemihypertrophy, macrocephaly, linear papillomatous epidermal nevus, subcutaneous hemangiomas and lipomas, accelerated growth, and visceral anomalies), and the Delleman-Oorthuys syndrome (orbital cyst, porencephaly, periorbital appendages, and focal aplasia of the skin.

  4. Birth defects in infants born in 1998-2004 to men and women serving in the U.S. military during the 1990-1991 Gulf War era.

    Science.gov (United States)

    Bukowinski, Anna T; DeScisciolo, Connie; Conlin, Ava Marie S; K Ryan, Margaret A; Sevick, Carter J; Smith, Tyler C

    2012-09-01

    Concerns about reproductive health persist among U.S. military members who served in the 1990-1991 Gulf War. This study explores the long-term impact of 1990-1991 Gulf War deployment on the prevalence of birth defects among infants of Gulf War veterans. Health care data from the Department of Defense Birth and Infant Health Registry and demographic and deployment information from the Defense Manpower Data Center were used to identify infants born between 1998 and 2004 to both male and female 1990-1991 Gulf War veterans. Multivariable logistic regression models estimated the adjusted odds of any birth defect and eight specific birth defects among infants of deployers versus non-deployers. In addition, birth defects were evaluated among infants born to 1990-1991 Gulf War veterans with deployment-specific exposures. Among 178,766 infants identified for these analyses, 3.4% were diagnosed with a birth defect in the first year of life. Compared to infants of non-deployers, infants of deployers were not at increased odds of being diagnosed with a birth defect, or any of eight specific birth defects, in the first year of life. A slightly increased prevalence of birth defects was observed among infants born to men who deployed to the 1990-1991 Gulf War for 153 to 200 days compared to those who deployed for 1 to 92 days. No other deployment-specific exposures were associated with birth defects in these infants. The 1990-1991 Gulf War deployers, including those with specific exposures of concern, were not found to be at increased risk for having infants with birth defects 7 to 14 years after deployment. Published 2012 Wiley Periodicals, Inc.

  5. Agricultural chemical exposures and birth defects in the Eastern Cape Province, South Africa A case – control study

    Directory of Open Access Journals (Sweden)

    Tyler Joanne

    2003-10-01

    Full Text Available Abstract Background South Africa is one of the major users of pesticides on the African continent. The Eastern Cape is the second largest province in South Africa. There has been growing concern about the occurrence of certain birth defects which seemed to have increased in the past few years. In this paper we investigate associations between exposure to agricultural chemicals and certain birth defects. Few such studies have been undertaken in the developing world previously. Methods Between September 2000 and March 2001 a case – control study was conducted among rural women in the area of the Eastern cape to investigate the association between women's exposure to pesticides and the occurrence of birth defects. Information on birth defects was obtained from the register of the Paediatrics Department at the Cecilia Makiwane Hospital in Mdantsane, one of the largest referral hospitals in the province. The cases were children who were diagnosed with selected birth defects. The controls were children born in the same areas as the cases. Exposure information on the mothers was obtained by interview concerning from their activities in gardens and fields. Data were analysed using conditional logistic regression. Results A total of 89 case mothers and 178 control mothers was interviewed. Babies with birth defects were seven times more likely to be born to women exposed to chemicals used in gardens and fields compared to no reported exposure (Odds Ratio 7.18, 95% CI 3.99, 13.25; and were almost twice as likely to be born to women who were involved in dipping livestock used to prevent ticks (OR 1.92, 95% CI 1.15, 3.14. They were also 6.5 times more likely to be born to women who were using plastic containers for fetching water (OR 6.5, 95% CI 2.2, 27.9. Some of these containers had previously contained pesticides (OR 1.87, 95% CI 1.06, 3.31. Conclusions These findings suggest a link between exposure to pesticides and certain birth defects among the

  6. An exploratory analysis of the relationship between ambient ozone and particulate matter concentrations during early pregnancy and selected birth defects in Texas

    International Nuclear Information System (INIS)

    Vinikoor-Imler, Lisa C.; Stewart, Thomas G.; Luben, Thomas J.; Davis, J. Allen; Langlois, Peter H.

    2015-01-01

    We performed an exploratory analysis of ozone (O 3 ) and fine particulate matter (PM 2.5 ) concentrations during early pregnancy and multiple types of birth defects. Data on births were obtained from the Texas Birth Defects Registry (TBDR) and the National Birth Defects Prevention Study (NBDPS) in Texas. Air pollution concentrations were previously determined by combining modeled air pollution concentrations with air monitoring data. The analysis generated hypotheses for future, confirmatory studies; although many of the observed associations were null. The hypotheses are provided by an observed association between O 3 and craniosynostosis and inverse associations between PM 2.5 and septal and obstructive heart defects in the TBDR. Associations with PM 2.5 for septal heart defects and ventricular outflow tract obstructions were null using the NBDPS. Both the TBDR and the NBPDS had inverse associations between O 3 and septal heart defects. Further research to confirm the observed associations is warranted. - Highlights: • Air pollution concentrations combined modeled air data and air monitoring data. • No associations were observed between the majority of birth defects and PM 2.5 and O 3 . • Estimated associations between PM 2.5 and certain heart defects varied by dataset. • Results were suggestive of an inverse association between O 3 and septal heart defects. • Higher O 3 concentrations may be associated with increased odds of craniosynostosis. - Although most observed associations between ozone and fine particulate matter concentrations and birth defects were null, some were present and warrant further consideration

  7. Birth planning in Cuba: a basic human right.

    Science.gov (United States)

    Swanson, J M

    1981-01-01

    This paper reports on the development of birth planning in Cuba and strategies that are relevant to nurses in the communities of Cuba. Cuba reduced its crude birth rate by 40% from 1964-75 without formal family planning programs and resources. By 1975, Cuba had achieved the lowest birth rate in Latin America (21/1000) except Barbados (19/1000). By 1978, Cuba's crude birth rate declined to a low of 15.3/1000. The demographic transition in Cuba has been a process of equalization by: 1) community participation to ensure basic human rights for everyone, 2) increasing the status of women while providing child care centers, 3) providing equal availability of health care services including contraceptive services, sterilization, and abortion, and 4) focusing on individual birth choice, not on limiting population growth. Emphasis in Cuba for reducing fertility has been put on literacy, education, and infant mortality. The illiteracy rate in 1961 decreased from 20% to 4%. Infant mortality decreased from 38.8/1000 live births in 1970 to 22.3/1000 in 1978. 1/3 of Cuban women were participating fully in the labor force in 1978. Polyclinics have been established as preventive care medical centers throughout Cuba and health care is free. Family planning options are integrated into routine primary health care at polyclinics and assure equal access to the total Cuban population. Abortion is freely available and increased to 61/1000 in 1976. The implications for nursing are that: 1) the traditional work of nurses places them in a key position to help extend basic human rights beyond current levels, 2) nurses can initiate discussions of birth planning with women and men in a variety of settings, and 3) nurses can increase case-finding related to birth planning needs both in health care classes or within established groups in the community.

  8. Multiple births associated with assisted human reproduction in Canada.

    Science.gov (United States)

    Cook, Jocelynn L; Geran, Leslie; Rotermann, Michelle

    2011-06-01

    Assisted human reproduction has been associated with increased rates of multiple births. Data suggest that twins and higher order multiple pregnancies are at risk for pre- and postnatal health complications that contribute to stress on both the family and the Canadian health care system. No published Canadian data estimate the contribution of assisted human reproduction to multiple birth rates. This study was designed to determine the contributions of age and assisted human reproduction to multiple birth rates in Canada. We performed analyses of existing Canadian databases, using a mathematical model from the Centers for Disease Control and Prevention. More specifically, data from the Canadian Vital Statistics: Births and Stillbirths database were combined with data from the Canadian Assisted Reproductive Technologies Register collected by the Canadian Fertility and Andrology Society. Datasets were standardized to age distributions of mothers in 1978. RESULTS suggest that in vitro fertilization, ovulation induction, and age each contribute more to the rates of triplets than to twins. As expected, the contribution of natural factors was higher to twins than to triplets. These are the first Canadian data analyzed to separate and measure the contributions of age and assisted reproductive technologies to multiple birth rates. Our findings are important for guiding physician and patient education and informing the development of treatment protocols that will result in lower-risk pregnancies and improved long-term health for women and their offspring.

  9. Evaluation of risk factors associated with congenital malformations in the surveillance program of birth defects based on the methodology ECLAMC in Bogotá during the period 2001 to 2010

    OpenAIRE

    Zarate, Ana María; Pontificia Universidad Javeriana; García, Gloria; Secretaría Distrital de Salud; Zarante, Ignacio; Pontificia Universidad Javeriana

    2016-01-01

    Introduction: Birth defects are a cause of morbidity and mortality in our country, so the Institute of Human Genetics and the Health Secretary of Bogotá developed a surveillance program based on the methodology of the Latin American Collaborative Study of Congenital Malformations (ECLAMC).Methods: We collected data on births monitored in the case-control and monitor modes. Maternal and newborn risk factors were evaluated.Results: 121,674 births were monitored, 1,81% had congenital malformatio...

  10. Notes from the Field: Zika Virus-Associated Neonatal Birth Defects Surveillance - Texas, January 2016-July 2017.

    Science.gov (United States)

    Hall, Noemi Borsay; Broussard, Kelly; Evert, Nicole; Canfield, Mark

    2017-08-11

    On November 28, 2016, the Texas Department of State Health Services (Texas DSHS) reported its first confirmed case of local mosquitoborne Zika virus transmission in the city of Brownsville, located in south Texas along the U.S.-Mexico border. Zika virus infection during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, congenital deafness, and limb contractures (1). On January 1, 2016, Texas DSHS established enhanced surveillance to identify women with laboratory evidence of possible Zika virus infection during pregnancy and suspected cases of Zika virus-associated birth defects among completed pregnancies.

  11. Population-Based Surveillance of Birth Defects Potentially Related to Zika Virus Infection - 15 States and U.S. Territories, 2016.

    Science.gov (United States)

    Delaney, Augustina; Mai, Cara; Smoots, Ashley; Cragan, Janet; Ellington, Sascha; Langlois, Peter; Breidenbach, Rebecca; Fornoff, Jane; Dunn, Julie; Yazdy, Mahsa; Scotto-Rosato, Nancy; Sweatlock, Joseph; Fox, Deborah; Palacios, Jessica; Forestieri, Nina; Leedom, Vinita; Smiley, Mary; Nance, Amy; Lake-Burger, Heather; Romitti, Paul; Fall, Carrie; Prado, Miguel Valencia; Barton, Jerusha; Bryan, J Michael; Arias, William; Brown, Samara Viner; Kimura, Jonathan; Mann, Sylvia; Martin, Brennan; Orantes, Lucia; Taylor, Amber; Nahabedian, John; Akosa, Amanda; Song, Ziwei; Martin, Stacey; Ramlal, Roshan; Shapiro-Mendoza, Carrie; Isenburg, Jennifer; Moore, Cynthia A; Gilboa, Suzanne; Honein, Margaret A

    2018-01-26

    Zika virus infection during pregnancy can cause serious birth defects, including microcephaly and brain abnormalities (1). Population-based birth defects surveillance systems are critical to monitor all infants and fetuses with birth defects potentially related to Zika virus infection, regardless of known exposure or laboratory evidence of Zika virus infection during pregnancy. CDC analyzed data from 15 U.S. jurisdictions conducting population-based surveillance for birth defects potentially related to Zika virus infection.* Jurisdictions were stratified into the following three groups: those with 1) documented local transmission of Zika virus during 2016; 2) one or more cases of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents; and 3) less than one case of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents. A total of 2,962 infants and fetuses (3.0 per 1,000 live births; 95% confidence interval [CI] = 2.9-3.2) (2) met the case definition. † In areas with local transmission there was a non-statistically significant increase in total birth defects potentially related to Zika virus infection from 2.8 cases per 1,000 live births in the first half of 2016 to 3.0 cases in the second half (p = 0.10). However, when neural tube defects and other early brain malformations (NTDs) § were excluded, the prevalence of birth defects strongly linked to congenital Zika virus infection increased significantly, from 2.0 cases per 1,000 live births in the first half of 2016 to 2.4 cases in the second half, an increase of 29 more cases than expected (p = 0.009). These findings underscore the importance of surveillance for birth defects potentially related to Zika virus infection and the need for continued monitoring in areas at risk for Zika.

  12. The experience of black parents/caretakers with the births and care of a child with profound congenital defects

    Directory of Open Access Journals (Sweden)

    M.S. Mabaso

    1990-09-01

    Full Text Available The reaction of Black families to the birth and care of a baby with profound congenital defects was researched using twenty case studies. It was found that the families went through stages of the grieving process, that they shifted from the Western/Christian viewpoint to the traditional viewpoint in their struggle to cope and that they find the existing services grossly inadequate.

  13. Tritium releases from the Pickering Nuclear Generating Station and birth defects and infant mortality in nearby communities 1971-1988

    International Nuclear Information System (INIS)

    Johnson, K.C.; Rouleau, J.

    1991-10-01

    This study was commissioned to examine whether there were elevated rates of stillbirth, birth defects, or death in the first year of life between 1971 and 1988 among offspring of residents of communities within a 25-kilometre radius of the Pickering Nuclear Generating Station. The study was also to investigate whether there were any statistical associations between the monthly airborne or waterborne tritium emissions from the Pickering Nuclear Generating Station and the rates of these reproductive outcomes. Overall analysis did not support a hypothesis of increased rates of stillbirths, neonatal mortality or infant mortality near the Pickering Nuclear Generating Station, or a hypothesis of increased birth prevalence of birth defects for 21 of 22 diagnostic categories. The prevalence of Down Syndrome was elevated in both Pickering and Ajax; however, there was no consistent pattern between tritium release levels and Down Syndrome prevalence, chance could not be ruled out for the associations between Down Syndrome and tritium releases or ground-monitored concentrations, the association was detected in an analysis where multiple testing was done which may turn up significant associations by change, and maternal residence at birth and early in pregnancy needs to be verified. The association between Down Syndrome and low-level radiation remains indeterminate when existing evidence from epidemiological studies is summed. The estimated radiation exposure from the nuclear plant for residents of Pickering and Ajax is lower by a factor of 100 than the normal natural background radiation. Further study is recommended. (21 tabs., 29 figs., 5 maps, 37 refs.)

  14. An exploratory analysis of the relationship between ambient ozone and particulate matter concentrations during early pregnancy and selected birth defects in Texas

    Science.gov (United States)

    Background: Associations between ozone (O3) and fine particulate matter (PM2.5) concentrations and birth outcomes have been previously demonstrated. We perform an exploratory analysis of O3 and PM2.5 concentrations during early pregnancy and multiple types of birth defects. Met...

  15. Maternal dietary intake of nitrates, nitrites and nitrosamines and selected birth defects in offspring: a case-control study.

    Science.gov (United States)

    Huber, John C; Brender, Jean D; Zheng, Qi; Sharkey, Joseph R; Vuong, Ann M; Shinde, Mayura U; Griesenbeck, John S; Suarez, Lucina; Langlois, Peter H; Canfield, Mark A; Romitti, Paul A; Weyer, Peter J

    2013-03-21

    Dietary intake of nitrates, nitrites, and nitrosamines can increase the endogenous formation of N-nitroso compounds in the stomach. Results from animal studies suggest that these compounds might be teratogenic. We examined the relationship between maternal dietary intake of nitrates, nitrites (including plant and animal sources as separate groups), and nitrosamines and several types of birth defects in offspring. For this population-based case-control study, data from a 58-question food frequency questionnaire, adapted from the short Willett Food Frequency Questionnaire and administered as part of the National Birth Defects Prevention Study (NBDPS), were used to estimate daily intake of dietary nitrates, nitrites, and nitrosamines in a sample of 6544 mothers of infants with neural tube defects (NTD)s, oral clefts (OC)s, or limb deficiencies (LD)s and 6807 mothers of unaffected control infants. Total daily intake of these compounds was divided into quartiles based on the control mother distributions. Odds ratios (OR)s and 95% confidence intervals (CI)s were estimated using logistic regression; estimates were adjusted for maternal daily caloric intake, maternal race-ethnicity, education, dietary folate intake, high fat diet (>30% of calories from fat), and state of residence. While some unadjusted ORs for NTDS had 95% (CI)s that excluded the null value, none remained significant after adjustment for covariates, and the effect sizes were small (adjusted odds ratios [aOR]nitrate, nitrite, and nitrosamines.

  16. Genetic Mutations, Birth Lengths, Weights and Head Circumferences of Children with IGF-I Receptor Defects. Comparison with other Congenital Defects in the GH/IGF-I axis.

    Science.gov (United States)

    Essakow, Jenna Lee; Lauterpacht, Aharon; Lilos, Pearl; Kauli, Rivka; Laron, Zvi

    2016-09-01

    In recent years more and more genetic defects along the GHRH-GH-IGF-I axis have been reported. Mutations of the IGF-I receptor (R) are a rare abnormality of whom only the heterozygote progenies survive. To summarize, from the literature, data on birth length, weight and head circumference of neonates with IGF-I-R mutations, and to correlate the data with that of other types of mutations in the GH/IGF-I axis. Sixty seven neonates from 24 published articles were included and forty seven different mutations of the IGF-I (R) located on chromosome 15 have been identified. Mean (±SD) birth length (BL), available for 26, (10 M, 16F) neonates with a gestational age of 34-41weeks, was 44.2±4cm; one was premature (30cm at 31 weeks). There was a significant correlation between birth length and gestational age (GA) r=0.71 (p>.001). Mean birth weight (BW) of 41 neonates (18M, 23F) was 2388±743gr. Two premature neonates weighed 650gr and 950gr respectively. The BW correlated significantly with gestational age, (males: r=0.68; p=0.007, females: r=0.49; p=0.024). The BMI of 25 neonates ranged from 6 to 13. In 22 records marked microcephaly was ascertained or stated. Nine of 16 mothers were short (133 -148cm), m±SD = 150.5±7.3cm. Copyright© of YS Medical Media ltd.

  17. [Spatial distribution of birth defects among children aged 0 to 5 years and its relationship with soil chemical elements in Chongqing].

    Science.gov (United States)

    Dong, Yan; Zhong, Zhao-hui; Li, Hong; Li, Jie; Wang, Ying-xiong; Peng, Bin; Zhang, Mao-zhong; Huang, Qiao; Yan, Ju; Xu, Fei-long

    2013-10-01

    To explore the correlation between the incidence of birth defects and the contents of soil elements so as to provide a scientific basis for screening the related pathogenic factors that inducing birth defects for the development of related preventive and control strategies. MapInfo 7.0 software was used to draw the maps on spatial distribution regarding the incidence rates of birth defects and the contents of 11 chemical elements in soil in the 33 studied areas. Variables on the two maps were superposed for analyzing the spatial correlation. SAS 8.0 software was used to analyze single factor, multi-factors and principal components as well as to comprehensively evaluate the degrees of relevance. Different incidence rates of birth defects showed in the maps of spatial distribution presented certain degrees of negative correlation with anomalies of soil chemical elements, including copper, chrome, iodine, selenium, zinc while positively correlated with the levels of lead. Results from the principal component regression equation indicating that the contents of copper(0.002), arsenic(-0.07), cadmium(0.05), chrome (-0.001), zinc (0.001), iodine(-0.03), lead (0.08), fluorine(-0.002)might serve as important factors that related to the prevalence of birth defects. Through the study on spatial distribution, we noticed that the incidence rates of birth defects were related to the contents of copper, chrome, iodine, selenium, zinc, lead in soil while the contents of chrome, iodine and lead might lead to the occurrence of birth defects.

  18. Cumulative costs for the prosthetic reconstructions and maintenance in young adult patients with birth defects affecting the formation of teeth.

    Science.gov (United States)

    Incici, Erol; Matuliene, Giedre; Hüsler, Jürg; Salvi, Giovanni E; Pjetursson, Bjarni; Brägger, Urs

    2009-07-01

    To assess retrospectively the cumulative costs for the long-term oral rehabilitation of patients with birth defects affecting the development of teeth. Patients with birth defects who had received fixed reconstructions on teeth and/or implants > or =5 years ago were asked to participate in a comprehensive clinical, radiographic and economic evaluation. From the 45 patients included, 18 were cases with a cleft lip and palate, five had amelogenesis/dentinogenesis imperfecta and 22 were cases with hypodontia/oligodontia. The initial costs for the first oral rehabilitation (before the age of 20) had been covered by the Swiss Insurance for Disability. The costs for the initial rehabilitation of the 45 cases amounted to 407,584 CHF (39% for laboratory fees). Linear regression analyses for the initial treatment costs per replaced tooth revealed the formula 731 CHF+(811 CHF x units) on teeth and 3369 CHF+(1183 CHF x units) for reconstructions on implants (Phealthy teeth, fewer tooth units need to be replaced and the cumulative long-term costs seem to be similar compared with cases restored on teeth.

  19. What Every Chemist Should Know About Teratogens--Chemicals that Cause Birth Defects.

    Science.gov (United States)

    Beyler, Roger E.; Meyers, Vera Kolb

    1982-01-01

    Teratogens are agents which act during pregnancy producing physical/functional defects in the embryo, fetus, or offspring. Discusses teratogenic hazards in the workplace and academic environment, classes of teratogenic compounds, precautions for interpreting Teratogen List from Registry of Toxic Effects of Chemical Substances (RTECS), and how…

  20. Birth Defects in Newborns: Spina Bifida Index at Rio Grande Do Norte State in Brazil

    Directory of Open Access Journals (Sweden)

    Arnaldo CM Junior

    2014-08-01

    Conclusion: Northeast region is the one that has the major incidence of SB in Brazil country, but RN state has a number lower than others states from its region. It was made an update about therapeutic options to minimize the morbidity and mortality in newborn with SB congenital defects. [J Interdiscipl Histopathol 2014; 2(4.000: 217-223

  1. The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model.

    Directory of Open Access Journals (Sweden)

    Matthieu Raveau

    2012-05-01

    Full Text Available Down syndrome (DS leads to complex phenotypes and is the main genetic cause of birth defects and heart diseases. The Ts65Dn DS mouse model is trisomic for the distal part of mouse chromosome 16 and displays similar features with post-natal lethality and cardiovascular defects. In order to better understand these defects, we defined electrocardiogram (ECG with a precordial set-up, and we found conduction defects and modifications in wave shape, amplitudes, and durations in Ts65Dn mice. By using a genetic approach consisting of crossing Ts65Dn mice with Ms5Yah mice monosomic for the App-Runx1 genetic interval, we showed that the Ts65Dn viability and ECG were improved by this reduction of gene copy number. Whole-genome expression studies confirmed gene dosage effect in Ts65Dn, Ms5Yah, and Ts65Dn/Ms5Yah hearts and showed an overall perturbation of pathways connected to post-natal lethality (Coq7, Dyrk1a, F5, Gabpa, Hmgn1, Pde10a, Morc3, Slc5a3, and Vwf and heart function (Tfb1m, Adam19, Slc8a1/Ncx1, and Rcan1. In addition cardiac connexins (Cx40, Cx43 and sodium channel sub-units (Scn5a, Scn1b, Scn10a were found down-regulated in Ts65Dn atria with additional down-regulation of Cx40 in Ts65Dn ventricles and were likely contributing to conduction defects. All these data pinpoint new cardiac phenotypes in the Ts65Dn, mimicking aspects of human DS features and pathways altered in the mouse model. In addition they highlight the role of the App-Runx1 interval, including Sod1 and Tiam1, in the induction of post-natal lethality and of the cardiac conduction defects in Ts65Dn. These results might lead to new therapeutic strategies to improve the care of DS people.

  2. Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968-2005.

    Science.gov (United States)

    Jackson, Jodi M; Crider, Krista S; Rasmussen, Sonja A; Cragan, Janet D; Olney, Richard S

    2012-01-01

    The purpose of this study was to examine changes in the use of cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects. Utilizing data from 1968 to 2005 from the Metropolitan Atlanta Congenital Defects Program, we analyzed trends in the frequency and timing (prenatal or postnatal) of cytogenetic testing and the prevalence of recognized chromosome abnormalities among pregnancies and children with birth defects (n = 51,424). Cytogenetic testing of pregnancies and children with birth defects increased from 7.2% in 1968 to 25.0% in 2005, as did the identification of chromosomal abnormalities (2.2% in 1968 to 6.8% in 2005). The use of prenatal cytogenetic testing decreased from 1996 to 2005 among women aged ≥35 years. Identification of chromosomal abnormalities in pregnancies and children with birth defects increased from 1968 to 2005, possibly due to increased testing, improved diagnostic techniques, or increasing maternal age. The decline in prenatal cytogenetic testing observed among mothers aged ≥35 years may be related to the availability of improved prenatal screening techniques, resulting in a reduction in the utilization of invasive diagnostic tests. Published 2011 Wiley Periodicals, Inc. This article is a U.S. Government work and is in the public domain in the USA.

  3. Promise and peril: Dissemination of findings from studies of drugs used in pregnancy and their association with birth defects.

    Science.gov (United States)

    Patrick, Stephen W; Cooper, William O

    2015-08-01

    When and how to publish birth defects research can be complex, especially in the context of drugs used in pregnancy. Such research frequently involves multiple stakeholders, including regulatory agencies. Researchers must balance the potential peril of an unnecessarily panicked populace versus the benefit of protecting the public's health. We use a case presentation and contemporary literature to highlight the potential tradeoffs that researchers must consider. We highlight important considerations including the public health impact, examining the likelihood of causality, understanding common considerations when using large data sources, the role of peer review and working in partnership with regulatory agencies. We suggest that plans for analyses, dissemination and risk communication are done best a priori and not post hoc. Rigorous research evaluating the impact of drugs used in pregnancy, coupled with effective dissemination strategies, has the potential improve outcomes for mothers and their infants for generations. © 2015 Wiley Periodicals, Inc.

  4. Residential agricultural pesticide exposures and risks of selected birth defects among offspring in the San Joaquin Valley of California.

    Science.gov (United States)

    Carmichael, Suzan L; Yang, Wei; Roberts, Eric; Kegley, Susan E; Brown, Timothy J; English, Paul B; Lammer, Edward J; Shaw, Gary M

    2016-01-01

    We examined associations of birth defects with residential proximity to commercial agricultural pesticide applications in California. Subjects included 367 cases representing five types of birth defects and 785 nonmalformed controls born 1997 to 2006. Associations with any versus no exposure to physicochemical groups of pesticides and specific chemicals were assessed using logistic regression adjusted for covariates. Overall, 46% of cases and 38% of controls were classified as exposed to pesticides within a 500 m radius of mother's address during a 3-month periconceptional window. We estimated odds ratios (ORs) for 85 groups and 95 chemicals with five or more exposed cases and control mothers. Ninety-five percent confidence intervals (CI) excluded 1.0 for 11 ORs for groups and 22 ORs for chemicals, ranging from 1.9 to 3.1 for groups and 1.8 to 4.9 for chemicals except for two that were <1 (noted below). For groups, these ORs were for anotia/microtia (n = 95 cases) and dichlorophenoxy acids/esters and neonicotinoids; anorectal atresia/stenosis (n = 77) and alcohol/ethers and organophosphates (these ORs were < 1.0); transverse limb deficiencies (n = 59) and dichlorophenoxy acids/esters, petroleum derivatives, and triazines; and craniosynostosis (n = 79) and alcohol/ethers, avermectins, neonicotinoids, and organophosphates. For chemicals, ORs were: anotia/microtia and five pesticides from the groups dichlorophenoxy acids/esters, copper-containing compounds, neonicotinoids, organophosphates, and triazines; transverse limb deficiency and six pesticides - oxyfluorfen and pesticides from the groups copper-containing compounds, 2,6-dinitroanilines, neonicotinoids, petroleum derivatives and polyalkyloxy compounds; craniosynostosis and 10 pesticides - oxyfluorfen and pesticides from the groups alcohol/ethers, avermectins, n-methyl-carbamates, neonicotinoids, ogranophosphates (two chemicals), polyalkyloxy compounds (two chemicals), and pyrethroids; and

  5. Advanced molecular and cytogenetic technologies in birth defect diagnosis and prevention%分子和细胞遗传学新技术在出生缺陷诊断及防治中的应用

    Institute of Scientific and Technical Information of China (English)

    Marilyn M. LI

    2005-01-01

    SUMMARY Fluorescence in situ hybridization (FISH) has become an important diagnostic tool as an adjunct to classical cytogenetics. FISH utilizes DNA probes comprised of specific nucleic acid sequences tagged with fluorescent molecules to identify the number and location of specific DNA sequences in human cells. These probes can be used to determine various numerical and structural chromosomal aberrations, in many cases, gene dosage and/or structure alterations. Chromosomal abnormalities are responsible for a considerable number of birth defects, and more than 50% of spontaneous abortions. These numbers have been significantly higher since the advent of FISH technology that allows the detection of submicroscopic chromosome alterations. The clinic application of FISH technology in postnatal, prenatal, and preimplantation diagnoses has been playing an important role in the diagnosis and prevention of birth defects. As new technologies evolve, more and more new FISH techniques - such as subtelomeric FISH, multicolor FISH (M-FISH), comparative genomic hybridization (CGH), and microarray - are used in clinical diagnoses, the role of FISH technology in both research and clinical aspects of birth defects will surely continue to expand.

  6. The molecular basis of hereditary enamel defects in humans.

    Science.gov (United States)

    Wright, J T; Carrion, I A; Morris, C

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel. © International & American Associations for

  7. The Molecular Basis of Hereditary Enamel Defects in Humans

    Science.gov (United States)

    Carrion, I.A.; Morris, C.

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel. PMID:25389004

  8. Sirenomelia : An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research, and Literature Review

    NARCIS (Netherlands)

    Orioli, Ieda M.; Amar, Emmanuelle; Arteaga-Vazquez, Jazmin; Bakker, Marian K.; Bianca, Sebastiano; Botto, Lorenzo D.; Clementi, Maurizio; Correa, Adolfo; Csaky-Szunyogh, Melinda; Leoncini, Emanuele; Li, Zhu; Lopez-Camelo, Jorge S.; Lowry, R. Brian; Marengo, Lisa; Martinez-Frias, Maria-Luisa; Mastroiacovo, Pierpaolo; Morgan, Margery; Pierini, Anna; Ritvanen, Annukka; Scarano, Gioacchino; Szabova, Elena; Castilla, Eduardo E.

    2011-01-01

    Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system

  9. Sperm-storage defects and live birth in Drosophila females lacking spermathecal secretory cells.

    Directory of Open Access Journals (Sweden)

    Sandra L Schnakenberg

    2011-11-01

    Full Text Available Male Drosophila flies secrete seminal-fluid proteins that mediate proper sperm storage and fertilization, and that induce changes in female behavior. Females also produce reproductive-tract secretions, yet their contributions to postmating physiology are poorly understood. Large secretory cells line the female's spermathecae, a pair of sperm-storage organs. We identified the regulatory regions controlling transcription of two genes exclusively expressed in these spermathecal secretory cells (SSC: Spermathecal endopeptidase 1 (Send1, which is expressed in both unmated and mated females, and Spermathecal endopeptidase 2 (Send2, which is induced by mating. We used these regulatory sequences to perform precise genetic ablations of the SSC at distinct time points relative to mating. We show that the SSC are required for recruiting sperm to the spermathecae, but not for retaining sperm there. The SSC also act at a distance in the reproductive tract, in that their ablation: (1 reduces sperm motility in the female's other sperm-storage organ, the seminal receptacle; and (2 causes ovoviviparity--the retention and internal development of fertilized eggs. These results establish the reproductive functions of the SSC, shed light on the evolution of live birth, and open new avenues for studying and manipulating female fertility in insects.

  10. Triple surveillance: a proposal for an integrated strategy to support and accelerate birth defect prevention.

    Science.gov (United States)

    Botto, Lorenzo D; Mastroiacovo, Pierpaolo

    2018-02-01

    Preventing neural tube defects (NTDs) easily qualifies as a high-value opportunity to improve childhood survival and health: the unmet need is significant (major preventable burden), the intervention is transformative (providing sufficient folic acid), and delivery strategies (e.g., fortification) are effective in low-resource countries. Yet, NTD prevention is lagging. Can public health surveillance help fix this problem? Critics contend that surveillance is largely unnecessary, that limited resources are best spent on interventions, and that surveillance is unrealistic in developing countries. The counterargument is twofold: (1) in the absence of surveillance, interventions will provide fewer benefits and cost more and (2) effective surveillance is likely possible nearly everywhere, with appropriate strategies. As a base strategy, we propose "triple surveillance:" integrating surveillance of cause (folate insufficiency), of disease occurrence (NTD prevalence), and of health outcomes (morbidity, mortality, and disability). For better sustainability and usefulness, it is crucial to refocus and streamline surveillance activities (no recreational data collection), weave surveillance into clinical care (integrate in clinical workflow), and, later, work on including additional risk factors and pediatric outcomes (increase benefits at low marginal cost). By doing so, surveillance becomes not a roadblock but a preferential path to prevention and better care. © 2018 The Authors. Annals of the New York Academy of Sciences published by Wiley Periodicals, Inc. on behalf of New York Academy of Sciences.

  11. Birth spacing, human capital, and the motherhood penalty at midlife in the United States

    Directory of Open Access Journals (Sweden)

    Margaret Gough

    2017-08-01

    Full Text Available Background: Researchers have examined how first-birth timing is related to motherhood wage penalties, but research that examines birth spacing is lacking. Furthermore, little research has examined the persistence of penalties across the life course. Objective: The objective is to estimate the effects of birth spacing on midlife labor market outcomes and assess the extent to which these effects vary by education and age at first birth. Methods: I use data from the United States from the 1979-2010 waves of the National Longitudinal Survey of Youth 1979 and dynamic inverse probability of treatment weighting to estimate the effects of different birth intervals on mothers' midlife cumulative work hours, cumulative earnings, and hourly wages. I examine how education and age at first birth moderate these effects. Results: Women with birth intervals longer than two years but no longer than six years have the smallest penalties for cumulative outcomes; in models interacting the birth interval with age at first birth, postponement of a first birth to at least age 30 appears to be more important for cumulative outcomes than birth spacing. College-educated women benefit more from a longer birth interval than less educated women. Conclusions: Childbearing strategies that result in greater accumulation of human capital provide long-run labor market benefits to mothers, and results suggest that different birth-spacing patterns could play a small role in facilitating this accumulation, as theorized in past literature. Contribution: I contribute to the demographic literature by testing the theory that birth spacing matters for mothers' labor market outcomes and by assessing the effects at midlife rather than immediately following a birth.

  12. Defecting or not defecting: how to "read" human behavior during cooperative games by EEG measurements.

    Directory of Open Access Journals (Sweden)

    Fabrizio De Vico Fallani

    2010-12-01

    Full Text Available Understanding the neural mechanisms responsible for human social interactions is difficult, since the brain activities of two or more individuals have to be examined simultaneously and correlated with the observed social patterns. We introduce the concept of hyper-brain network, a connectivity pattern representing at once the information flow among the cortical regions of a single brain as well as the relations among the areas of two distinct brains. Graph analysis of hyper-brain networks constructed from the EEG scanning of 26 couples of individuals playing the Iterated Prisoner's Dilemma reveals the possibility to predict non-cooperative interactions during the decision-making phase. The hyper-brain networks of two-defector couples have significantly less inter-brain links and overall higher modularity--i.e., the tendency to form two separate subgraphs--than couples playing cooperative or tit-for-tat strategies. The decision to defect can be "read" in advance by evaluating the changes of connectivity pattern in the hyper-brain network.

  13. How Can We Use Bioinformatics to Predict Which Agents Will Cause Birth Defects?

    Science.gov (United States)

    The availability of genomic sequences from a growing number of human and model organisms has provided an explosion of data, information, and knowledge regarding biological systems and disease processes. High-throughput technologies such as DNA and protein microarray biochips are ...

  14. Comparative primate obstetrics: Observations of 15 diurnal births in wild gelada monkeys (Theropithecus gelada) and their implications for understanding human and nonhuman primate birth evolution.

    Science.gov (United States)

    Nguyen, Nga; Lee, Laura M; Fashing, Peter J; Nurmi, Niina O; Stewart, Kathrine M; Turner, Taylor J; Barry, Tyler S; Callingham, Kadie R; Goodale, C Barret; Kellogg, Bryce S; Burke, Ryan J; Bechtold, Emily K; Claase, Megan J; Eriksen, G Anita; Jones, Sorrel C Z; Kerby, Jeffrey T; Kraus, Jacob B; Miller, Carrie M; Trew, Thomas H; Zhao, Yi; Beierschmitt, Evan C; Ramsay, Malcolm S; Reynolds, Jason D; Venkataraman, Vivek V

    2017-05-01

    The birth process has been studied extensively in many human societies, yet little is known about this essential life history event in other primates. Here, we provide the most detailed account of behaviors surrounding birth for any wild nonhuman primate to date. Over a recent ∼10-year period, we directly observed 15 diurnal births (13 live births and 2 stillbirths) among geladas (Theropithecus gelada) at Guassa, Ethiopia. During each birth, we recorded the occurrence (or absence) of 16 periparturitional events, chosen for their potential to provide comparative evolutionary insights into the factors that shaped birth behaviors in humans and other primates. We found that several events (e.g., adopting standing crouched positions, delivering infants headfirst) occurred during all births, while other events (e.g., aiding the infant from the birth canal, licking infants following delivery, placentophagy) occurred during, or immediately after, most births. Moreover, multiparas (n = 9) were more likely than primiparas (n = 6) to (a) give birth later in the day, (b) isolate themselves from nearby conspecifics while giving birth, (c) aid the infant from the birth canal, and (d) consume the placenta. Our results suggest that prior maternal experience may contribute to greater competence or efficiency during the birth process. Moreover, face presentations (in which infants are born with their neck extended and their face appearing first, facing the mother) appear to be the norm for geladas. Lastly, malpresentations (in which infants are born in the occiput anterior position more typical of human infants) may be associated with increased mortality in this species. We compare the birth process in geladas to those in other primates (including humans) and discuss several key implications of our study for advancing understanding of obstetrics and the mechanism of labor in humans and nonhuman primates. © 2017 Wiley Periodicals, Inc.

  15. Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

    Science.gov (United States)

    Bermejo-Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bianca, Sebastiano; Bianchi, Fabrizio; Botto, Lorenzo D; Canfield, Mark A; Castilla, Eduardo E; Clementi, Maurizio; Cocchi, Guido; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, R Brian; Mastroiacovo, Pierpaolo; Mutchinick, Osvaldo M; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Martínez-Frías, María-Luisa

    2011-11-15

    Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52-0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 g; most MCA (60.7%) weighed less than 2,500 g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. Copyright © 2011 Wiley Periodicals, Inc.

  16. Phocomelia: A Worldwide Descriptive Epidemiologic Study in a Large Series of Cases From the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature

    Science.gov (United States)

    Bermejo-Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bianca, Sebastiano; Bianchi, Fabrizio; Botto, Lorenzo D.; Canfield, Mark A.; Castilla, Eduardo E.; Clementi, Maurizio; Cocchi, Guido; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Mastroiacovo, Pierpaolo; Mutchinick, Osvaldo M.; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Martínez-Frías, María-Luisa

    2015-01-01

    Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52–0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 g; most MCA (60.7%) weighed less than 2,500 g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. PMID:22002800

  17. An Evolutionary Genomic Approach to Identify Genes Involved in Human Birth Timing

    Science.gov (United States)

    Orabona, Guilherme; Morgan, Thomas; Haataja, Ritva; Hallman, Mikko; Puttonen, Hilkka; Menon, Ramkumar; Kuczynski, Edward; Norwitz, Errol; Snegovskikh, Victoria; Palotie, Aarno; Fellman, Vineta; DeFranco, Emily A.; Chaudhari, Bimal P.; McGregor, Tracy L.; McElroy, Jude J.; Oetjens, Matthew T.; Teramo, Kari; Borecki, Ingrid; Fay, Justin; Muglia, Louis

    2011-01-01

    Coordination of fetal maturation with birth timing is essential for mammalian reproduction. In humans, preterm birth is a disorder of profound global health significance. The signals initiating parturition in humans have remained elusive, due to divergence in physiological mechanisms between humans and model organisms typically studied. Because of relatively large human head size and narrow birth canal cross-sectional area compared to other primates, we hypothesized that genes involved in parturition would display accelerated evolution along the human and/or higher primate phylogenetic lineages to decrease the length of gestation and promote delivery of a smaller fetus that transits the birth canal more readily. Further, we tested whether current variation in such accelerated genes contributes to preterm birth risk. Evidence from allometric scaling of gestational age suggests human gestation has been shortened relative to other primates. Consistent with our hypothesis, many genes involved in reproduction show human acceleration in their coding or adjacent noncoding regions. We screened >8,400 SNPs in 150 human accelerated genes in 165 Finnish preterm and 163 control mothers for association with preterm birth. In this cohort, the most significant association was in FSHR, and 8 of the 10 most significant SNPs were in this gene. Further evidence for association of a linkage disequilibrium block of SNPs in FSHR, rs11686474, rs11680730, rs12473870, and rs1247381 was found in African Americans. By considering human acceleration, we identified a novel gene that may be associated with preterm birth, FSHR. We anticipate other human accelerated genes will similarly be associated with preterm birth risk and elucidate essential pathways for human parturition. PMID:21533219

  18. Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.

    Science.gov (United States)

    Orioli, Iêda M; Amar, Emmanuelle; Arteaga-Vazquez, Jazmin; Bakker, Marian K; Bianca, Sebastiano; Botto, Lorenzo D; Clementi, Maurizio; Correa, Adolfo; Csaky-Szunyogh, Melinda; Leoncini, Emanuele; Li, Zhu; López-Camelo, Jorge S; Lowry, R Brian; Marengo, Lisa; Martínez-Frías, María-Luisa; Mastroiacovo, Pierpaolo; Morgan, Margery; Pierini, Anna; Ritvanen, Annukka; Scarano, Gioacchino; Szabova, Elena; Castilla, Eduardo E

    2011-11-15

    Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system members of the International Clearinghouse for Birth Defects Surveillance and Research, and were reported according to a single pre-established protocol. Cases were clinically evaluated locally and reviewed centrally. A total of 249 cases with sirenomelia were identified among 25,290,172 births, for a prevalence of 0.98 per 100,000, with higher prevalence in the Mexican registry. An increase of sirenomelia prevalence with maternal age less than 20 years was statistically significant. The proportion of twinning was 9%, higher than the 1% expected. Sex was ambiguous in 47% of cases, and no different from expectation in the rest. The proportion of cases born alive, premature, and weighting less than 2,500 g were 47%, 71.2%, and 88.2%, respectively. Half of the cases with sirenomelia also presented with genital, large bowel, and urinary defects. About 10-15% of the cases had lower spinal column defects, single or anomalous umbilical artery, upper limb, cardiac, and central nervous system defects. There was a greater than expected association of sirenomelia with other very rare defects such as bladder exstrophy, cyclopia/holoprosencephaly, and acardia-acephalus. The application of the new biological network analysis approach, including molecular results, to these associated very rare diseases is suggested for future studies. Copyright © 2011 Wiley Periodicals, Inc.

  19. Bisphenol A and congenital developmental defects in humans

    Energy Technology Data Exchange (ETDEWEB)

    Guida, Maurizio [Department of Medicine, University of Salerno (Italy); Troisi, Jacopo, E-mail: j.troisi@studenti.unisa.it [Department of Medicine, University of Salerno (Italy); Ciccone, Carla [“G. Moscati” Hospital Avellino (Italy); Granozio, Giovanni; Cosimato, Cosimo [Department of Medicine, University of Salerno (Italy); Sardo, Attilio Di Spiezio; Ferrara, Cinzia [Department of Medicine, “Federico II”, University of Naples (Italy); Guida, Marco [Department of Biology, “Federico II”, University of Naples (Italy); Nappi, Carmine [Department of Medicine, “Federico II”, University of Naples (Italy); Zullo, Fulvio [Department of Medicine, University of Salerno (Italy); Di Carlo, Costantino [Department of Medicine, “Federico II”, University of Naples (Italy)

    2015-04-15

    Highlights: • We show a correlation between environmental exposure to BPA and fetal malformations in humans. • We show that a reduced ability to metabolize the BPA in the mother can concur to the occurrence of malformations. • The average value of free BPA appears to be nearly three times greater in case of chromosomal malformations than the controls. - Abstract: Over 50% of the causes of fetal malformations in humans are still unknown. Recent evidence suggests the relationship between environmental exposure to endocrine disruptors and fetal malformations. Our study aims to establish the role of Bisphenol A (BPA), if any, in altering human reproduction. We enrolled 151 pregnant women who were divided into two groups: case group (CS, n = 101), women with established diagnosis of developmental defect, and control group (CL, n = 50), pregnant women with normally developed fetus. Total, free and conjugated BPA were measured in their blood using GC–MS with isotopic dilution. The results show a correlation between environmental exposure to BPA and the genesis of fetal malformations. Conjugated BPA, which was higher in the CL, casts light on the hypothesis that a reduced ability to metabolize the chemical in the mother can concur to the occurrence of malformation. In a more detailed manner, in case of chromosomal malformations, the average value of free BPA appears to be nearly three times greater than that of the controls. Similarly, in case of central and peripheral nervous system non-chromosomal malformations, the value of free BPA is nearly two times greater than that of the controls.

  20. Bisphenol A and congenital developmental defects in humans

    International Nuclear Information System (INIS)

    Guida, Maurizio; Troisi, Jacopo; Ciccone, Carla; Granozio, Giovanni; Cosimato, Cosimo; Sardo, Attilio Di Spiezio; Ferrara, Cinzia; Guida, Marco; Nappi, Carmine; Zullo, Fulvio; Di Carlo, Costantino

    2015-01-01

    Highlights: • We show a correlation between environmental exposure to BPA and fetal malformations in humans. • We show that a reduced ability to metabolize the BPA in the mother can concur to the occurrence of malformations. • The average value of free BPA appears to be nearly three times greater in case of chromosomal malformations than the controls. - Abstract: Over 50% of the causes of fetal malformations in humans are still unknown. Recent evidence suggests the relationship between environmental exposure to endocrine disruptors and fetal malformations. Our study aims to establish the role of Bisphenol A (BPA), if any, in altering human reproduction. We enrolled 151 pregnant women who were divided into two groups: case group (CS, n = 101), women with established diagnosis of developmental defect, and control group (CL, n = 50), pregnant women with normally developed fetus. Total, free and conjugated BPA were measured in their blood using GC–MS with isotopic dilution. The results show a correlation between environmental exposure to BPA and the genesis of fetal malformations. Conjugated BPA, which was higher in the CL, casts light on the hypothesis that a reduced ability to metabolize the chemical in the mother can concur to the occurrence of malformation. In a more detailed manner, in case of chromosomal malformations, the average value of free BPA appears to be nearly three times greater than that of the controls. Similarly, in case of central and peripheral nervous system non-chromosomal malformations, the value of free BPA is nearly two times greater than that of the controls

  1. Birth defects and aplastic anemia: differences in polycyclic hydrocarbon toxicity associated with the Ah locus. [Mice

    Energy Technology Data Exchange (ETDEWEB)

    Nebert, D.W.; Levitt, R.C.; Jensen, N.M.; Lambert, G.H.; Felton, J.S.

    1977-01-01

    The balance between cytochrome(s) P/sub 1/-450 and other forms of P-450 in the liver, and probably many nonhepatic tissues as well, appears to be important in the toxicity, carcinogenicity, mutagenicity, and teratogenicity of numerous compounds. Thus, allelic differences in a single gene--the Ah locus-- can have profound effects on the susceptibility of mice to drug toxicity and cancer. There is evidence for the Ah lous in the human. Striking increases in the incidence of stillborns, reorptions,and malformations caused by 3-methylcholanthrene or 7,12-dimethylbenz(a)anthracene were observed in the aromatic hydrocarbon responsive C57BL/6N,C3H/HeN, and BALB/cAnN inbred strains, compared with the genetically nonresponsive AKR/N. These data suggest that an association exists between the Ah locus and teratogenesis. Although numerous teratogenic differences among inbred mouse strains have been previously reported, this study is unique in that the genetic differences in teratogenicity observed were predicted in advance, on the basis of known differences in polycyclic hydrocarbon metabolism regulated by the Ah locus.

  2. Birth Defects Diagnosis

    Science.gov (United States)

    ... screen tests the levels of 4 proteins AFP (alpha-fetoprotein), hCG, estriol, and inhibin-A. Generally, the maternal ... which an amniocentesis tests. AFP AFP stands for alpha-fetoprotein, a protein the unborn baby produces. A high ...

  3. KIR and HLA-C: Immunogenetic regulation of human birth weight

    Directory of Open Access Journals (Sweden)

    Lydia E. Farrell

    2014-12-01

    Full Text Available Pregnancies resulting in very small or very large babies are at higher risk of obstetric complications with increased morbidity for both mother and baby. Using data from the Medical Birth Registry of Norway we have shown how human birth weight is still subject to stabilizing selection. Particular combinations of maternal/fetal immune genes have been implicated in pregnancies resulting in a low birth weight baby (<5th birth weight centile. More specifically, an inhibitory maternal KIRAA genotype with a paternally derived fetal HLA-C2 ligand. At the other end of the birth weight spectrum the presence of an activating maternal KIR2DS1 gene is associated with increased birth weight in linear or logistic regression analyses of all pregnancies >5th centile (p=0.005, OR=2.65. Thus, inhibitory maternal KIR combined with fetal HLA-C2 is more frequently associated with low birth weight, whereas activating maternal KIR with fetal HLA-C2 ligand is associated with increasing birth weight. Our findings using the MoBa cohort have replicated the association of KIR and HLA-C seen in poor placentation, and confirm the importance of maternal/fetal immune gene interactions in determining the outcome of pregnancy.

  4. Neural Tube Defects

    Science.gov (United States)

    Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the ... that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In ...

  5. Bladder Exstrophy: An Epidemiologic Study From the International Clearinghouse for Birth Defects Surveillance and Research, and an Overview of the Literature

    Science.gov (United States)

    SIFFEL, CSABA; CORREA, ADOLFO; AMAR, EMMANUELLE; BAKKER, MARIAN K.; BERMEJO-SÁNCHEZ, EVA; BIANCA, SEBASTIANO; CASTILLA, EDUARDO E.; CLEMENTI, MAURIZIO; COCCHI, GUIDO; CSÁKY-SZUNYOGH, MELINDA; FELDKAMP, MARCIA L.; LANDAU, DANIELLE; LEONCINI, EMANUELE; LI, ZHU; LOWRY, R. BRIAN; MARENGO, LISA K.; MASTROIACOVO, PIERPAOLO; MORGAN, MARGERY; MUTCHINICK, OSVALDO M.; PIERINI, ANNA; RISSMANN, ANKE; RITVANEN, ANNUKKA; SCARANO, GIOACCHINO; SZABOVA, ELENA; OLNEY, RICHARD S.

    2015-01-01

    Bladder exstrophy (BE) is a complex congenital anomaly characterized by a defect in the closure of the lower abdominal wall and bladder. We aimed to provide an overview of the literature and conduct an epidemiologic study to describe the prevalence, and maternal and case characteristics of BE. We used data from 22 participating member programs of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). All cases were reviewed and classified as isolated, syndrome, and multiple congenital anomalies. We estimated the total prevalence of BE and calculated the frequency and odds ratios for various maternal and case characteristics. A total of 546 cases with BE were identified among 26,355,094 births. The total prevalence of BE was 2.07 per 100,000 births (95% CI: 1.90–2.25) and varied between 0.52 and 4.63 among surveillance programs participating in the study. BE was nearly twice as common among male as among female cases. The proportion of isolated cases was 71%. Prevalence appeared to increase with increasing categories of maternal age, particularly among isolated cases. The total prevalence of BE showed some variations by geographical region, which is most likely attributable to differences in registration of cases. The higher total prevalence among male cases and older mothers, especially among isolated cases, warrants further attention. PMID:22002949

  6. Amelia: A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature

    Science.gov (United States)

    BERMEJO-SÁNCHEZ, EVA; CUEVAS, LOURDES; AMAR, EMMANUELLE; BAKKER, MARIAN K.; BIANCA, SEBASTIANO; BIANCHI, FABRIZIO; CANFIELD, MARK A.; CASTILLA, EDUARDO E.; CLEMENTI, MAURIZIO; COCCHI, GUIDO; FELDKAMP, MARCIA L.; LANDAU, DANIELLE; LEONCINI, EMANUELE; LI, ZHU; LOWRY, R. BRIAN; MASTROIACOVO, PIERPAOLO; MUTCHINICK, OSVALDO M.; RISSMANN, ANKE; RITVANEN, ANNUKKA; SCARANO, GIOACCHINO; SIFFEL, CSABA; SZABOVA, ELENA; MARTÍNEZ-FRÍAS, MARÍA-LUISA

    2015-01-01

    This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26–1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly. PMID:22002956

  7. Prevention of birth defects in the pre-conception period: knowledge and practice of health care professionals (nurses and doctors in a city of Southern Brazil

    Directory of Open Access Journals (Sweden)

    Flávia Romariz Ferreira

    2015-10-01

    Full Text Available Background: Some congenital defects can be prevented in the pregestational stage. However, many health professionals are not prepared to provide counselling to couples regarding the same. Objective: This study aimed to assess the performance of doctors and nurses from a primary health-care unit in Florianopolis, Brazil, in preventing birth defects in the preconception period based on the recommendations of the Control Center of Disease Prevention. Materials and Methods: This descriptive cross sectional study was performed at a tertiary referral center. In this study, a semi-structured questionnaire was provided to 160 health professionals comprising doctors and nurses who were actively involved in providing primary health care in family health programs. The non-parametric Chi-square (χ2 test was used to analyse the data obtained through multiple choice questions. Results: Our results showed that although 81.9% of health professionals provided health-care assistance based on protocols, and only 46.2% professionals were aware of the presence of the topic in the protocol. Of the recommendations provided by the Control Center of Disease Prevention, the use of folic acid was the most prescribed. However, this prescription was not statistically different between nurses and doctors (P=0.85. Conclusion: This study identified the fragile nature in these professional’s knowledge about the prevention of birth defects in pre-conception period, as evidenced by the inconsistency in their responses.

  8. Research on metallic material defect detection based on bionic sensing of human visual properties

    Science.gov (United States)

    Zhang, Pei Jiang; Cheng, Tao

    2018-05-01

    Due to the fact that human visual system can quickly lock the areas of interest in complex natural environment and focus on it, this paper proposes an eye-based visual attention mechanism by simulating human visual imaging features based on human visual attention mechanism Bionic Sensing Visual Inspection Model Method to Detect Defects of Metallic Materials in the Mechanical Field. First of all, according to the biologically visually significant low-level features, the mark of defect experience marking is used as the intermediate feature of simulated visual perception. Afterwards, SVM method was used to train the advanced features of visual defects of metal material. According to the weight of each party, the biometrics detection model of metal material defect, which simulates human visual characteristics, is obtained.

  9. Defect in mitochondrial functions in damaged human mitral valve

    OpenAIRE

    Shinde, Santosh; Kumar, Pawan; Mishra, Kaushala; Patil, Neela

    2006-01-01

    Mitochondrial diseases are a heterogeneous group of disorders in which a primary mitochondrial dysfunction is proven by morphological, biochemical, and genetic examinations. The mitral valve has important function in the regulation of blood flow from one chamber to another. Often, the mitral valve becomes abnormal with age, in Rheumatic fever or it is abnormal from birth (Congenital) or it can be destroyed by infection i.e. bacterial endocarditis and needs replacement. Myocardial function dep...

  10. The Birth of the Universal Declaration of Human Rights.

    Science.gov (United States)

    Cooper, Michael

    1998-01-01

    Outlines the history of the ideals and enactment of the United Nations' Universal Declaration of Human Rights (UDHR). Includes a discussion of the origins of the concept of human rights, the impact of World War II, the role of nongovernmental organizations, and the process of drafting and adopting the UDHR. (DSK)

  11. Dating the time of birth: A radiocarbon calibration curve for human eye-lens crystallines

    Energy Technology Data Exchange (ETDEWEB)

    Kjeldsen, Henrik, E-mail: kjeldsen@phys.au.d [AMS 14C Dating Centre, Department of Physics and Astronomy, University of Aarhus, Aarhus (Denmark); Heinemeier, Jan [AMS 14C Dating Centre, Department of Physics and Astronomy, University of Aarhus, Aarhus (Denmark); Heegaard, Steffen [Eye Pathology Section, Department of Neuroscience and Pharmacology, University of Copenhagen, Copenhagen (Denmark); Jacobsen, Christina; Lynnerup, Niels [Department of Forensic Medicine, University of Copenhagen, Copenhagen (Denmark)

    2010-04-15

    Radiocarbon bomb-pulse dating has been used to measure the formation age of human eye-lens crystallines. Lens crystallines are special proteins in the eye-lens that consist of virtually inert tissue. The experimental data show that the radiocarbon ages to a large extent reflect the time of birth, in accordance with expectations. Moreover, it has been possible to develop an age model for the formation of the eye-lens crystallines. From this model a radiocarbon calibration curve for lens crystallines has been calculated. As a consequence, the time of birth of humans can be determined with an accuracy of a few years by radiocarbon dating.

  12. Dating the time of birth: A radiocarbon calibration curve for human eye-lens crystallines

    International Nuclear Information System (INIS)

    Kjeldsen, Henrik; Heinemeier, Jan; Heegaard, Steffen; Jacobsen, Christina; Lynnerup, Niels

    2010-01-01

    Radiocarbon bomb-pulse dating has been used to measure the formation age of human eye-lens crystallines. Lens crystallines are special proteins in the eye-lens that consist of virtually inert tissue. The experimental data show that the radiocarbon ages to a large extent reflect the time of birth, in accordance with expectations. Moreover, it has been possible to develop an age model for the formation of the eye-lens crystallines. From this model a radiocarbon calibration curve for lens crystallines has been calculated. As a consequence, the time of birth of humans can be determined with an accuracy of a few years by radiocarbon dating.

  13. A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry.

    Science.gov (United States)

    Lara, Diego A; Ethen, Mary K; Canfield, Mark A; Nembhard, Wendy N; Morris, Shaine A

    2017-01-01

    Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long-term survival and causes of death in this population. The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999-2007. We used Kaplan-Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS-). Of the 542 patients with HLHS, 11 had TS (2.0%), 71 had other extracardiac birth defects or genetic disorders, and 463 had neither. The median follow-up time was 4.2 y (interquartile range [IQR] 2.1-6.5). Comparing those with HLHS/TS+ to HLHS/TS-, 100% versus 35% were female (P < .001), and median birth weight was 2140 g (IQR 1809-2650) versus 3196 g (IQR 2807-3540, P < .001). Neonatal mortality was 36% in HLHS/TS+ versus 27% in HLHS/TS- (log rank = 0.431). Ten of the 11 TS+ patients died during the study period for cumulative mortality of 91% versus 50% (hazard ratio (HR) for TS+: 2.90, 95% CI 1.53-5.48). Six patients died prior to surgery, 5 underwent Stage 1 palliation (S1P), 3 died after S1P, 2 survived past S2P, and one of these died at age 19 mo. The underlying cause of death was listed as congenital heart disease on all the death certificates of HLHS/TS+ patients. In multivariable analysis controlling for low birth weight (<2500 g), TS remained associated with significantly increased cumulative mortality, although females without TS had higher mortality than males (HR for TS+ versus males: 2.42, 95% CI 1.24-4.73; HR for TS- females versus males: 1.41, 95% CI 1.08-1.83). TS with HLHS is associated with significant mortality. The increased mortality in females without documented TS calls to question if TS is undetected in a portion of females with HLHS. © 2016 Wiley Periodicals, Inc.

  14. Epidemiologic study of neural tube defects in Los Angeles County. I. Prevalence at birth based on multiple sources of case ascertainment

    Energy Technology Data Exchange (ETDEWEB)

    Sever, L.E. (Pacific Northwest Lab., Richland, WA); Sanders, M.; Monsen, R.

    1982-01-01

    Epidemiologic studies of the neural tube defects (NTDs), anencephalus and spina bifida, have for the most part been based on single sources of case ascertainment in past studies. The present investigation attempts total ascertainment of NTD cases in the newborn population of Los Angeles County residents for the period 1966 to 1972. Design of the study, sources of data, and estimates of prevalence rates based on single and multiple sources of case ascertainment are here discussed. Anencephalus cases totaled 448, spina bifida 442, and encephalocele 72, giving prevalence rates of 0.52, 0.51, and 0.08 per 1000 total births, respectively, for these neural tube defects - rates considered to be low. The Los Angeles County prevalence rates are compared with those of other recent North American studies and support is provided for earlier suggestions of low rates on the West Coast.

  15. Evolutionary developmental pathology and anthropology: A new field linking development, comparative anatomy, human evolution, morphological variations and defects, and medicine.

    Science.gov (United States)

    Diogo, Rui; Smith, Christopher M; Ziermann, Janine M

    2015-11-01

    We introduce a new subfield of the recently created field of Evolutionary-Developmental-Anthropology (Evo-Devo-Anth): Evolutionary-Developmental-Pathology-and-Anthropology (Evo-Devo-P'Anth). This subfield combines experimental and developmental studies of nonhuman model organisms, biological anthropology, chordate comparative anatomy and evolution, and the study of normal and pathological human development. Instead of focusing on other organisms to try to better understand human development, evolution, anatomy, and pathology, it places humans as the central case study, i.e., as truly model organism themselves. We summarize the results of our recent Evo-Devo-P'Anth studies and discuss long-standing questions in each of the broader biological fields combined in this subfield, paying special attention to the links between: (1) Human anomalies and variations, nonpentadactyly, homeotic transformations, and "nearest neighbor" vs. "find and seek" muscle-skeleton associations in limb+facial muscles vs. other head muscles; (2) Developmental constraints, the notion of "phylotypic stage," internalism vs. externalism, and the "logic of monsters" vs. "lack of homeostasis" views about human birth defects; (3) Human evolution, reversions, atavisms, paedomorphosis, and peromorphosis; (4) Scala naturae, Haeckelian recapitulation, von Baer's laws, and parallelism between phylogeny and development, here formally defined as "Phylo-Devo parallelism"; and (5) Patau, Edwards, and Down syndrome (trisomies 13, 18, 21), atavisms, apoptosis, heart malformations, and medical implications. © 2015 Wiley Periodicals, Inc.

  16. 21 CFR 110.110 - Natural or unavoidable defects in food for human use that present no health hazard.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 2 2010-04-01 2010-04-01 false Natural or unavoidable defects in food for human... PRACTICE IN MANUFACTURING, PACKING, OR HOLDING HUMAN FOOD Defect Action Levels § 110.110 Natural or... natural or unavoidable defects to the lowest level currently feasible. (d) The mixing of a food containing...

  17. Maternal KIR in combination with paternal HLA-C2 regulate human birth weight.

    Science.gov (United States)

    Hiby, Susan E; Apps, Richard; Chazara, Olympe; Farrell, Lydia E; Magnus, Per; Trogstad, Lill; Gjessing, Håkon K; Carrington, Mary; Moffett, Ashley

    2014-06-01

    Human birth weight is subject to stabilizing selection; babies born too small or too large are less likely to survive. Particular combinations of maternal/fetal immune system genes are associated with pregnancies where the babies are ≤ 5th birth weight centile, specifically an inhibitory maternal KIR AA genotype with a paternally derived fetal HLA-C2 ligand. We have now analyzed maternal KIR and fetal HLA-C combinations at the opposite end of the birth weight spectrum. Mother/baby pairs (n = 1316) were genotyped for maternal KIR as well as fetal and maternal HLA-C. Presence of a maternal-activating KIR2DS1 gene was associated with increased birth weight in linear or logistic regression analyses of all pregnancies >5th centile (p = 0.005, n = 1316). Effect of KIR2DS1 was most significant in pregnancies where its ligand, HLA-C2, was paternally but not maternally inherited by a fetus (p = 0.005, odds ratio = 2.65). Thus, maternal KIR are more frequently inhibitory with small babies but activating with big babies. At both extremes of birth weight, the KIR associations occur when their HLA-C2 ligand is paternally inherited by a fetus. We conclude that the two polymorphic immune gene systems, KIR and HLA-C, contribute to successful reproduction by maintaining birth weight between two extremes with a clear role for paternal HLA.

  18. are humans by birth as wicked as the heidelberg catechism

    African Journals Online (AJOL)

    the Catechism's view that (after alienation from God in the Fall) all human individuals ... capacities of empathy and altruism already in young children of different cultures as ... characterized by the natural right to self-preservation, which in itself ... and stabilizing the institutions of family, church and state in the Heidelberg.

  19. Dating the time of birth: A radiocarbon calibration curve for human eye-lens crystallines

    DEFF Research Database (Denmark)

    Kjeldsen, Henrik; Heinemeier, Jan; Heegaard, Steffen

    2010-01-01

    Radiocarbon bomb-pulse dating has been used to measure the formation age of human eye-lens crystallines. Lens crystallines are special proteins in the eye-lens that consist of virtually inert tissue. The experimental data show that the radiocarbon ages to a large extent reflect the time of birth...

  20. Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994

    DEFF Research Database (Denmark)

    Jelenkovic, Aline; Hur, Yoon-Mi; Sund, Reijo

    2016-01-01

    Human height variation is determined by genetic and environmental factors, but it remains unclear whether their influences differ across birth-year cohorts. We conducted an individual-based pooled analysis of 40 twin cohorts including 143,390 complete twin pairs born 1886-1994. Although genetic...

  1. Human vision-based algorithm to hide defective pixels in LCDs

    Science.gov (United States)

    Kimpe, Tom; Coulier, Stefaan; Van Hoey, Gert

    2006-02-01

    Producing displays without pixel defects or repairing defective pixels is technically not possible at this moment. This paper presents a new approach to solve this problem: defects are made invisible for the user by using image processing algorithms based on characteristics of the human eye. The performance of this new algorithm has been evaluated using two different methods. First of all the theoretical response of the human eye was analyzed on a series of images and this before and after applying the defective pixel compensation algorithm. These results show that indeed it is possible to mask a defective pixel. A second method was to perform a psycho-visual test where users were asked whether or not a defective pixel could be perceived. The results of these user tests also confirm the value of the new algorithm. Our "defective pixel correction" algorithm can be implemented very efficiently and cost-effectively as pixel-dataprocessing algorithms inside the display in for instance an FPGA, a DSP or a microprocessor. The described techniques are also valid for both monochrome and color displays ranging from high-quality medical displays to consumer LCDTV applications.

  2. Low birth weight and zygosity status is associated with defective muscle glycogen and glycogen synthase regulation in elderly twins

    DEFF Research Database (Denmark)

    Poulsen, Pernille; Wojtaszewski, Jørgen; Richter, Erik

    2007-01-01

    OBJECTIVE: An adverse intrauterine environment indicated by both low birth weight and monozygosity is associated with an age- or time-dependent reduction in glucose disposal and nonoxidative glucose metabolism in twins, suggesting impaired regulation of muscle glycogen synthesis. RESEARCH DESIGN ...

  3. Early differential defects of insulin secretion and action in 19-year-old caucasian men who had low birth weight

    DEFF Research Database (Denmark)

    Jensen, Christine B; Storgaard, Heidi; Dela, Flemming

    2002-01-01

    Several studies have linked low birth weight (LBW) and type 2 diabetes. We investigated hepatic and peripheral insulin action including intracellular glucose metabolism in 40 19-year-old men (20 LBW, 20 matched control subjects), using the hyperinsulinemic-euglycemic clamp technique at two...

  4. Ethical aspects of soft tissue engineering for congenital birth defects in children - what do experts in the field say?

    NARCIS (Netherlands)

    Oerlemans, A.J.M.; Rodrigues, C.H.; Verkerk, M.A.; Berg, P.P. van den; Dekkers, W.J.M.

    2010-01-01

    This article is part of the EuroSTEC project, which aims at developing tissue engineering-based treatments for structural disorders present at birth. EuroSTEC is positioned at the intersection of three areas with their own ethical issues: (1) regenerative medicine, (2) research with pregnant women

  5. Ethical aspects of soft tissue engineering for congenital birth defects in children : what do experts in the field say?

    NARCIS (Netherlands)

    Oerlemans, A.J.; Rodrigues, Catarina; Verkerk, M.A.; van den Berg, P.P.; Dekkers, W.J.M.

    This article is part of the EuroSTEC project, which aims at developing tissue engineering-based treatments for structural disorders present at birth. EuroSTEC is positioned at the intersection of three areas with their own ethical issues: (1) regenerative medicine, (2) research with pregnant women

  6. Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects

    Directory of Open Access Journals (Sweden)

    Brian C. Gibbs

    2016-03-01

    Full Text Available Planar cell polarity (PCP is controlled by a conserved pathway that regulates directional cell behavior. Here, we show that mutant mice harboring a newly described mutation termed Beetlejuice (Bj in Prickle1 (Pk1, a PCP component, exhibit developmental phenotypes involving cell polarity defects, including skeletal, cochlear and congenital cardiac anomalies. Bj mutants die neonatally with cardiac outflow tract (OFT malalignment. This is associated with OFT shortening due to loss of polarized cell orientation and failure of second heart field cell intercalation mediating OFT lengthening. OFT myocardialization was disrupted with cardiomyocytes failing to align with the direction of cell invasion into the outflow cushions. The expression of genes mediating Wnt signaling was altered. Also noted were shortened but widened bile ducts and disruption in canonical Wnt signaling. Using an in vitro wound closure assay, we showed Bj mutant fibroblasts cannot establish polarized cell morphology or engage in directional cell migration, and their actin cytoskeleton failed to align with the direction of wound closure. Unexpectedly, Pk1 mutants exhibited primary and motile cilia defects. Given Bj mutant phenotypes are reminiscent of ciliopathies, these findings suggest Pk1 may also regulate ciliogenesis. Together these findings show Pk1 plays an essential role in regulating cell polarity and directional cell migration during development.

  7. Group B streptococcus activates transcriptomic pathways related to premature birth in human extraplacental membranes in vitro.

    Science.gov (United States)

    Park, Hae-Ryung; Harris, Sean M; Boldenow, Erica; McEachin, Richard C; Sartor, Maureen; Chames, Mark; Loch-Caruso, Rita

    2018-03-01

    Streptococcus agalactiae (group B streptococcus [GBS]) infection in pregnant women is the leading cause of infectious neonatal morbidity and mortality in the United States. Although inflammation during infection has been associated with preterm birth, the contribution of GBS to preterm birth is less certain. Moreover, the early mechanisms by which GBS interacts with the gestational tissue to affect adverse pregnancy outcomes are poorly understood. We hypothesized that short-term GBS inoculation activates pathways related to inflammation and premature birth in human extraplacental membranes. We tested this hypothesis using GBS-inoculated human extraplacental membranes in vitro. In agreement with our hypothesis, a microarray-based transcriptomics analysis of gene expression changes in GBS-inoculated membranes revealed that GBS activated pathways related to inflammation and preterm birth with significant gene expression changes occurring as early as 4 h postinoculation. In addition, pathways related to DNA replication and repair were downregulated with GBS treatment. Conclusions based on our transcriptomics data were further supported by responses of prostaglandin E2 (PGE2), and matrix metalloproteinases 1 (MMP1) and 3 (MMP3), all of which are known to be involved in parturition and premature rupture of membranes. These results support our initial hypothesis and provide new information on molecular targets of GBS infection in human extraplacental membranes.

  8. Epidemiologic study of neural tube defects in Los Angeles County. II. Etiologic factors in an area with low prevalence at birth

    Energy Technology Data Exchange (ETDEWEB)

    Sever, L.E.

    1982-01-01

    Epidemiologic characteristics of neural tube defect (NTD) births occurring in Los Angeles County, California, residents during the period 1966-1972 are presented. The prevalence at birth was 0.52/1000 births for anencephalus, 0.51/1000 for spina bifida, and 0.08/1000 for encephalocele, rates considered to be low for a predominantly white population. We hypothesized that environmental (nongenetic) factors are of less etiologic importance in a low-prevalence population than in areas or time periods with high prevalence. We tested that hypothesis by examining epidemiologic characteristics of NTDs in Los Angeles County and comparing them with high-prevalence populations. The data did not support a major etiologic role for environmental factors: (1) no significant differences between rates by month of birth or conception; (2) no significant association with maternal age or parity for anencephalus; for spina bifida a significant maternal age effect (P < 0.01) and for encephalocele a parity effect (P < 0.02); and (3) no significant relationship with father's occupational class for either anencephalus or encephalocele but a marginally significant (P < 0.05) inverse association for spina bifida when a statistic based on ordinal relationships was used. Findings supporting the importance of genetic factors in etiology included: (1) a high percentage of males; (2) a higher twin concordance rate than in high-prevalence populations; and (3) an anencephalus rate among blacks comparable with rates for blacks in other United States populations. Our findings in conjunction with those from other areas and times of low prevalence suggest environmental factors play a relatively insignificant role in the etiology of NTDs in such populations.

  9. [Role of donor human milk feeding in preventing nosocomial infection in very low birth weight infants].

    Science.gov (United States)

    Bi, Hong-Juan; Xu, Jing; Wei, Qiu-Fen

    2018-02-01

    To investigate the role of donor human milk in the prevention of nosocomial infection in very low birth weight infants. MeETHODS: A total of 105 hospitalized preterm infants with a very low birth weight were enrolled. They were classified into mother's own milk feeding group, donor human milk feeding group, and preterm formula feeding group, with 35 infants in each group. The three groups were compared in terms of incidence rates of nosocomial infection, necrotizing enterocolitis, and feeding intolerance, time to full enteral feeding, and early growth indices. Compared with the preterm formula feeding group, the donor human milk feeding group and the mother's own milk feeding group had significantly lower incidence rates of nosocomial infection and necrotizing enterocolitis and shorter time to full enteral feeding (Pmilk can be used in case of a lack of mother's own milk and may help to reduce nosocomial infection.

  10. IL-27 induces a pro-inflammatory response in human fetal membranes mediating preterm birth.

    Science.gov (United States)

    Yin, Nanlin; Wang, Hanbing; Zhang, Hua; Ge, Huisheng; Tan, Bing; Yuan, Yu; Luo, Xiaofang; Olson, David M; Baker, Philip N; Qi, Hongbo

    2017-09-01

    Inflammation at the maternal-fetal interface has been shown to be involved in the pathogenesis of preterm birth. Interleukin 27 (IL-27), a heterodimeric cytokine, is known to mediate an inflammatory response in some pregnancy complications. In this study, we aimed to determine whether IL-27 could induce an inflammatory reaction at the maternal-fetal interface that would mediate the onset of preterm birth. We found elevated expression of IL-27 in human peripheral serum and elevated expression of its specific receptor (wsx-1) on fetal membranes in cases of preterm birth. Moreover, the release of inflammatory markers (CXCL10, IFN-γ, MCP-1, IL-6, IL-1β and TNF-α), especially CXCL10, was markedly augmented upon stimulation of IL-27 in the fetal membranes. Additionally, IL-27 and IFN-γ cooperated to amplify the expression of CXCL10 in the fetal membranes. Moreover, the production of CXCL10 was increased in IL-27-treated fetal membrane through JNK, PI3K or Erk signaling pathways. Finally, MMP2 and MMP9 were activated by IL-27 in human fetal membranes, which may be related to the onset of preterm premature rupture of membranes (pPROM). In conclusion, for the first time, we reported that the aberrant expression of IL-27 could mediate an excessive inflammatory response in fetal membranes through the JNK, PI3K or Erk signaling pathways, which contributes to preterm birth. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. Paternal effects on the human sex ratio at birth: evidence from interracial crosses.

    Science.gov (United States)

    Khoury, M J; Erickson, J D; James, L M

    1984-01-01

    The effects of interracial crossing on the human sex ratio at birth were investigated using United States birth-certificate data for 1972-1979. The sex ratio was 1.059 for approximately 14 million singleton infants born to white couples, 1.033 for 2 million born to black couples, and 1.024 for 64,000 born to American Indian couples. Paternal and maternal race influences on the observed racial differences in sex ratio were analyzed using additional data on approximately 97,000 singleton infants born to white-black couples and 60,000 born to white-Indian couples. After adjustment for mother's race, white fathers had significantly more male offspring than did black fathers (ratio of sex ratios [RSR] = 1.027) and Indian fathers (RSR = 1.022). On the other hand, after adjustment for father's race, white mothers did not have more male offspring than did black mothers (RSR = 0.998) or Indian mothers (RSR = 1.009). The paternal-race effect persisted after adjustment for parental ages, education, birth order, and maternal marital status. The study shows that the observed racial differences in the sex ratio at birth are due to the effects of father's race and not the mother's. The study points to paternal determinants of the human sex ratio at fertilization and/or of the prenatal differential sex survival. PMID:6496474

  12. Response of induced bone defects in horses to collagen matrix containing the human parathyroid hormone gene.

    Science.gov (United States)

    Backstrom, Kristin C; Bertone, Alicia L; Wisner, Erik R; Weisbrode, Stephen E

    2004-09-01

    To determine whether human parathyroid hormone (hPTH) gene in collagen matrix could safely promote bone formation in diaphyseal or subchondral bones of horses. 8 clinically normal adult horses. Amount, rate, and quality of bone healing for 13 weeks were determined by use of radiography, quantitative computed tomography, and histomorphometric analysis. Diaphyseal cortex and subchondral bone defects of metacarpi were filled with hPTH(1-34) gene-activated matrix (GAM) or remained untreated. Joints were assessed on the basis of circumference, synovial fluid analysis, pain on flexion, lameness, and gross and histologic examination. Bone volume index was greater for cortical defects treated with hPTH(1-34) GAM, compared with untreated defects. Bone production in cortical defects treated with hPTH(1-34) GAM positively correlated with native bone formation in untreated defects. In contrast, less bone was detected in hPTH(1-34) GAM-treated subchondral bone defects, compared with untreated defects, and histology confirmed poorer healing and residual collagen sponge. Use of hPTH(1-34) GAM induced greater total bone, specifically periosteal bone, after 13 weeks of healing in cortical defects of horses. The hPTH(1-34) GAM impeded healing of subchondral bone but was biocompatible with joint tissues. Promotion of periosteal bone formation may be beneficial for healing of cortical fractures in horses, but the delay in onset of bone formation may negate benefits. The hPTH(1-34) GAM used in this study should not be placed in articular subchondral bone defects, but contact with articular surfaces is unlikely to cause short-term adverse effects.

  13. Season of sampling and season of birth influence serotonin metabolite levels in human cerebrospinal fluid.

    Directory of Open Access Journals (Sweden)

    Jurjen J Luykx

    Full Text Available BACKGROUND: Animal studies have revealed seasonal patterns in cerebrospinal fluid (CSF monoamine (MA turnover. In humans, no study had systematically assessed seasonal patterns in CSF MA turnover in a large set of healthy adults. METHODOLOGY/PRINCIPAL FINDINGS: Standardized amounts of CSF were prospectively collected from 223 healthy individuals undergoing spinal anesthesia for minor surgical procedures. The metabolites of serotonin (5-hydroxyindoleacetic acid, 5-HIAA, dopamine (homovanillic acid, HVA and norepinephrine (3-methoxy-4-hydroxyphenylglycol, MPHG were measured using high performance liquid chromatography (HPLC. Concentration measurements by sampling and birth dates were modeled using a non-linear quantile cosine function and locally weighted scatterplot smoothing (LOESS, span = 0.75. The cosine model showed a unimodal season of sampling 5-HIAA zenith in April and a nadir in October (p-value of the amplitude of the cosine = 0.00050, with predicted maximum (PC(max and minimum (PC(min concentrations of 173 and 108 nmol/L, respectively, implying a 60% increase from trough to peak. Season of birth showed a unimodal 5-HIAA zenith in May and a nadir in November (p = 0.00339; PC(max = 172 and PC(min = 126. The non-parametric LOESS showed a similar pattern to the cosine in both season of sampling and season of birth models, validating the cosine model. A final model including both sampling and birth months demonstrated that both sampling and birth seasons were independent predictors of 5-HIAA concentrations. CONCLUSION: In subjects without mental illness, 5-HT turnover shows circannual variation by season of sampling as well as season of birth, with peaks in spring and troughs in fall.

  14. Haploinsufficiency of TAB2 causes congenital heart defects in humans

    DEFF Research Database (Denmark)

    Thienpont, Bernard; Zhang, Litu; Postma, Alex V

    2010-01-01

    . To definitively confirm the role of this candidate gene in CHDs, we performed mutation analysis of TAB2 in 402 patients with a CHD, which revealed two evolutionarily conserved missense mutations. Finally, a balanced translocation was identified, cosegregating with familial CHD. Mapping of the breakpoints...... demonstrated that this translocation disrupts TAB2. Taken together, these data clearly demonstrate a role for TAB2 in human cardiac development....

  15. DNA-Related Pathways Defective in Human Premature Aging

    OpenAIRE

    Bohr, Vilhelm A.

    2002-01-01

    One of the major issues in studies on aging is the choice of biological model system. The human premature aging disorders represent excellent model systems for the study of the normal aging process, which occurs at a much earlier stage in life in these individuals than in normals. The patients with premature aging also get the age associated diseases at an early stage in life, and thus age associated disease can be studied as well. It is thus of great interest to understand the molecular path...

  16. Birth defects in Norway by levels of external and food-based exposure to radiation from Chernobyl

    International Nuclear Information System (INIS)

    Lie, R.T.; Irgens, L.M.; Skjaerven, R.; Reitan, J.B.; Strand, P.; Strand, T.

    1992-01-01

    In Norway, external doses of radiation resulting from fallout from the Chernobyl nuclear accident were estimated from detailed measurements, including soil deposition patterns. Internal doses were estimated from measurements of radioactive cesium in meat and milk supplies. The doses were calculated as average monthly doses for each of 454 municipalities during 36 consecutive months after the accident in spring 1986. Prospectively collected data on all newborns listed in the Medical Birth Registry of Norway who were conceived in the period May 1983-April 1989 were used to assess possible dose-response relations between estimated external and food-based exposures and congenital malformations and some other conditions. A positive association was observed between total radiation dose (external plus food-based) and hydrocephaly, while a negative association was observed for Down's syndrome. However, an important conclusion of the study was that no associations were found for conditions previously reported to be associated with radiation, i.e., small head circumference, congenital cataracts, anencephaly, spina bifida, and low birth weight. Potential sources of bias, including exposure misclassification and incomplete ascertainment of cases, are discussed

  17. Defeitos congênitos no Município do Rio de Janeiro, Brasil: uma avaliação através do SINASC (2000-2004 Birth defects in Rio de Janeiro, Brazil: an evaluation through birth certificates (2000-2004

    Directory of Open Access Journals (Sweden)

    Fernando Antônio Ramos Guerra

    2008-01-01

    Full Text Available Avaliou-se a ocorrência de defeitos congênitos em nascidos vivos no Município do Rio de Janeiro, Brasil, com base no Sistema de Informações sobre Nascidos Vivos (SINASC, no período de 1º de janeiro de 2000 a 31 de dezembro de 2004. Através de um estudo seccional e descritivo, estudaram-se as variáveis relativas aos defeitos congênitos (presença e aparelho ou sistema acometido, aos serviços de saúde, às mães, às gestações, aos recém-natos e aos partos. Constatou-se uma prevalência de defeitos congênitos de 83/10 mil nascidos vivos. Os sistemas orgânicos mais afetados foram o osteomuscular, nervoso central, genital, as fendas lábio-palatinas e as anomalias cromossômicas. A maioria dos casos nasceu nas maternidades municipais e na rede privada, e maior prevalência de defeitos congênitos ocorreu no Instituto Fernandes Figueira da Fundação Oswaldo Cruz. Os defeitos congênitos foram mais prevalentes entre os filhos de mulheres mais velhas e menos instruídas. O percentual de casos ignorados foi alto, chegando a 21% em algumas maternidades. Uma maior divulgação das informações do SINASC sobre defeitos congênitos deveria ser estimulada. Estudos de confiabilidade são recomendados para melhor aproveitamento das informações.To evaluate the occurrence of birth defects in the city of Rio de Janeiro, Brazil, using the Live Birth Information System (SINASC, we performed a cross-sectional study on all live newborns with birth defects from January 1, 2000, to December 31, 2004. The variables referred to birth defects (presence and system affected, type of health service, mothers, gestations, live births, and deliveries. Prevalence of birth defects was 83/10,000 live births. The most frequent birth defects involved the musculoskeletal system, central nervous system, cleft lip and palate, and chromosomal anomalies. The majority of cases were born in public (municipal and private maternity hospitals, with the highest prevalence

  18. One-stage human acellular nerve allograft reconstruction for digital nerve defects

    Directory of Open Access Journals (Sweden)

    Xue-yuan Li

    2015-01-01

    Full Text Available Human acellular nerve allografts have a wide range of donor origin and can effectively avoid nerve injury in the donor area. Very little is known about one-stage reconstruction of digital nerve defects. The present study observed the feasibility and effectiveness of human acellular nerve allograft in the reconstruction of < 5-cm digital nerve defects within 6 hours after injury. A total of 15 cases of nerve injury, combined with nerve defects in 18 digits from the Department of Emergency were enrolled in this study. After debridement, digital nerves were reconstructed using human acellular nerve allografts. The patients were followed up for 6-24 months after reconstruction. Mackinnon-Dellon static two-point discrimination results showed excellent and good rates of 89%. Semmes-Weinstein monofilament test demonstrated that light touch was normal, with an obvious improvement rate of 78%. These findings confirmed that human acellular nerve allograft for one-stage reconstruction of digital nerve defect after hand injury is feasible, which provides a novel trend for peripheral nerve reconstruction.

  19. Deficiency of the vestibular spine in atrioventricular septal defects in human fetuses with down syndrome

    NARCIS (Netherlands)

    Blom, Nico A.; Ottenkamp, Jaap; Wenink, Arnold G. C.; Gittenberger-de Groot, Adriana C.

    2003-01-01

    Data on the morphogenesis of atrioventricular septal defect (AVSD) in Down syndrome are lacking to support molecular studies on Down syndrome heart critical region. Therefore, we studied the development of complete AVSD in human embryos and fetuses with trisomy 21 using 3-dimensional graphic

  20. Homologous human milk supplement for very low birth weight preterm infant feeding

    Science.gov (United States)

    Grance, Thayana Regina de Souza; Serafin, Paula de Oliveira; Thomaz, Débora Marchetti Chaves; Palhares, Durval Batista

    2015-01-01

    OBJECTIVE: To develop a homologous human milk supplement for very low-birth weight infant feeding, using an original and simplified methodology, to know the nutritional composition of human milk fortified with this supplement and to evaluate its suitability for feeding these infants. METHODS: For the production and analysis of human milk with the homologous additive, 25 human milk samples of 45mL underwent a lactose removal process, lyophilization and then were diluted in 50mL of human milk. Measurements of lactose, proteins, lipids, energy, sodium, potassium, calcium, phosphorus and osmolality were performed. RESULTS: The composition of the supplemented milk was: lactose 9.22±1.00g/dL; proteins 2.20±0.36g/dL; lipids 2.91±0.57g/dL; calories 71.93±8.69kcal/dL; osmolality 389.6±32.4mOsmol/kgH2O; sodium 2.04±0.45mEq/dL; potassium 1.42±0.15mEq/dL; calcium 43.44±2.98mg/dL; and phosphorus 23.69±1.24mg/dL. CONCLUSIONS: According to the nutritional contents analyzed, except for calcium and phosphorus, human milk with the proposed supplement can meet the nutritional needs of the very low-birth weight preterm infant. PMID:25662564

  1. Homologous human milk supplement for very low birth weight preterm infant feeding

    Directory of Open Access Journals (Sweden)

    Thayana Regina de Souza Grance

    2015-03-01

    Full Text Available OBJECTIVE: To develop a homologous human milk supplement for very low-birth weight infant feeding, using an original and simplified methodology, to know the nutritional composition of human milk fortified with this supplement and to evaluate its suitability for feeding these infants. METHODS: For the production and analysis of human milk with the homologous additive, 25 human milk samples of 45mL underwent a lactose removal process, lyophilization and then were diluted in 50mL of human milk. Measurements of lactose, proteins, lipids, energy, sodium, potassium, calcium, phosphorus and osmolality were performed. RESULTS: The composition of the supplemented milk was: lactose 9.22±1.00g/dL; proteins 2.20±0.36g/dL; lipids 2.91±0.57g/dL; calories 71.93±8.69kcal/dL; osmolality 389.6±32.4mOsmol/kgH2O; sodium 2.04±0.45mEq/dL; potassium 1.42±0.15mEq/dL; calcium 43.44±2.98mg/dL; and phosphorus 23.69±1.24mg/dL. CONCLUSIONS: According to the nutritional contents analyzed, except for calcium and phosphorus, human milk with the proposed supplement can meet the nutritional needs of the very low-birth weight preterm infant.

  2. Analysis of health care status and demands of children of birth defects%出生缺陷患儿保健状况及保健需求分析

    Institute of Scientific and Technical Information of China (English)

    张颖; 丁辉

    2011-01-01

    [Objective]To acknowledge the health care status and demands of children born with birth defects.[Methods]Between July 2007 and September 2008, 453 live born cases of birth defects were diagnosed and registered by the Beijing Birth Defects Monitoring network-a hospital based birth defects registry system.Their parents were called to assess their survival status from birth up to the age of 6~8 months.[Results]The proportions of 315 live born infants with birth defects inhabited in Beijing, Expanded Program of Immunization, and physical examination were 94.00%,93.40% respectively.The proportions of having been to the hospital once at least, not having been to the hospital, not acknowledging the fact of infants' birth defects were 70.70%, 27.10%, and 2.20% respectively.[Conclusions]The medical services were not enough for the demands of children born with birth defects.To establish registry system of children born with birth defects, to accomplish the net of diagnosis, therapy and transport of children born with birth defect will provide more services to the children born with birth defects.%[目的]了解出生缺陷患儿保健状况及其家长对相关儿童保健的需求.[方法]对2007年7月-2008年9月分娩且家长均居住在北京市海淀区的453例活产出生缺陷患儿,分娩6~8个月时通过电话调查方式询问出生缺陷患儿家长.[结果]315例在北京市生活的儿童接受计划免疫接种率94.00%、体检率93.40%;70.70%"到医院复诊过至少1次",27.10%"未到医院复查",2.20%"家长否认孩子有出生缺陷".[结论]目前的医疗保健机构不能满足出生缺陷患儿医疗保健需求;建立有效的出生缺陷患儿信息登记系统对于患儿信息的长期随访至关重要;完善出生缺陷患儿诊断、治疗、转诊网络,为患儿提供更好的后续服务.

  3. Birth weight and characteristics of endothelial and smooth muscle cell cultures from human umbilical cord vessels

    Directory of Open Access Journals (Sweden)

    Lurbe Empar

    2009-04-01

    Full Text Available Abstract Background Low birth weight has been related to an increased risk for developing high blood pressure in adult life. The molecular and cellular analysis of umbilical cord artery and vein may provide information about the early vascular characteristics of an individual. We have assessed several phenotype characteristics of the four vascular cell types derived from human umbilical cords of newborns with different birth weight. Further follow-up studies could show the association of those vascular properties with infancy and adulthood blood pressure. Methods Endothelial and smooth muscle cell cultures were obtained from umbilical cords from two groups of newborns of birth weight less than 2.8 kg or higher than 3.5 kg. The expression of specific endothelial cell markers (von Willebrand factor, CD31, and the binding and internalization of acetylated low-density lipoprotein and the smooth muscle cell specific α-actin have been evaluated. Cell culture viability, proliferation kinetic, growth fraction (expression of Ki67 and percentage of senescent cells (detection of β-galactosidase activity at pH 6.0 have been determined. Endothelial cell projection area was determined by morphometric analysis of cell cultures after CD31 immunodetection. Results The highest variation was found in cell density at the confluence of endothelial cell cultures derived from umbilical cord arteries (66,789 ± 5,093 cells/cm2 vs. 45,630 ± 11,927 cells/cm2, p 2, p Conclusion The analysis of umbilical cord artery endothelial cells, which demonstrated differences in cell size related to birth weight, can provide hints about the cellular and molecular links between lower birth weight and increased adult high blood pressure risk.

  4. CDC WONDER: Births

    Data.gov (United States)

    U.S. Department of Health & Human Services — The Births (Natality) online databases in CDC WONDER report birth rates, fertility rates and counts of live births occurring within the United States to U.S....

  5. Sex ratio at birth and mortality rates are negatively related in humans.

    Directory of Open Access Journals (Sweden)

    Madhukar Shivajirao Dama

    Full Text Available Evolutionary theory posits that resource availability and parental investment ability could signal offspring sex selection, in order to maximize reproductive returns. Non-human studies have provided evidence for this phenomenon, and maternal condition around the time of conception has been identified as most important factor that influence offspring sex selection. However, studies on humans have reported inconsistent results, mostly due to use of disparate measures as indicators of maternal condition. In the present study, the cross-cultural differences in human natal sex ratio were analyzed with respect to indirect measures of condition namely, life expectancy and mortality rate. Multiple regression modeling suggested that mortality rates have distinct predictive power independent of cross-cultural differences in fertility, wealth and latitude that were earlier shown to predict sex ratio at birth. These findings suggest that sex ratio variation in humans may relate to differences in parental and environmental conditions.

  6. Assessing the Risk of Birth Defects Associated with Exposure to Fixed-Dose Combined Antituberculous Agents during Pregnancy in Rats

    Directory of Open Access Journals (Sweden)

    O. Awodele

    2012-01-01

    Full Text Available Due to the risks of disease progression and transmission to the newborn, treatment of tuberculosis is often pursued during pregnancy and fixed-dose combined antituberculous agents have been found to be beneficial. Unfortunately, there is paucity of data on the safety of the fixed-dose combined antituberculous drugs during pregnancy. This study intends to assess the teratogenic effect of fixed-dose combined antituberculous drugs on the organogenesis stage of fetal development and also investigate the possible roles of vitamin C in modulating the teratogenic effects of these agents on the fetus using animal model. Pregnant rats were divided into 3 groups with 12 animals per group: group 1 received distilled water (10 mL/kg orally; group 2 received 51.4 mg/kg/day of fixed-dose combined antituberculous agents orally; group 3 received 51.4 mg/kg/day of fixed-dose combined antituberculous agents plus vitamin C (10 mg/kg/day orally. Six rats in each group were randomly selected and sacrificed on day 20 by cervical dislocation prior to day 21 of gestation, and the foetuses were harvested through abdominal incision for physical examination. Blood samples were collected from the 1st filial rats of the remaining six animals for biochemical and hematological examination. The liver, kidney, heart, and brain of all the sacrificed animals were used for histopathological examination. There were significant (≤0.05 low birth weights of the foetuses of the animals that were treated with fixed-dose combined antituberculous agents. The haematological parameters also revealed a reduction in the platelets counts and neutrophiles at the first filial generation. Significant (≤0.05 elevations in the levels of aspartate aminotransferase (AST and alkaline phosphatase (ALP in the foetuses of the animals treated with fixed-dose combined antituberculous agents were also observed. However, the combination of vitamin C with fixed-dose combined antituberculous agents

  7. Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994.

    Science.gov (United States)

    Jelenkovic, Aline; Hur, Yoon-Mi; Sund, Reijo; Yokoyama, Yoshie; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Rijsdijk, Fruhling; Tan, Qihua; Zhang, Dongfeng; Pang, Zengchang; Aaltonen, Sari; Heikkilä, Kauko; Öncel, Sevgi Y; Aliev, Fazil; Rebato, Esther; Tarnoki, Adam D; Tarnoki, David L; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; Sung, Joohon; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Franz, Carol E; Kremen, William S; Lyons, Michael J; Busjahn, Andreas; Nelson, Tracy L; Whitfield, Keith E; Kandler, Christian; Jang, Kerry L; Gatz, Margaret; Butler, David A; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Duncan, Glen E; Buchwald, Dedra; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth Jf; Martin, Nicholas G; Medland, Sarah E; Montgomery, Grant W; Jeong, Hoe-Uk; Swan, Gary E; Krasnow, Ruth; Magnusson, Patrik Ke; Pedersen, Nancy L; Dahl-Aslan, Anna K; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Tynelius, Per; Baker, Laura A; Tuvblad, Catherine; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Lichtenstein, Paul; Spector, Timothy D; Mangino, Massimo; Lachance, Genevieve; Bartels, Meike; van Beijsterveldt, Toos Cem; Willemsen, Gonneke; Burt, S Alexandra; Klump, Kelly L; Harris, Jennifer R; Brandt, Ingunn; Nilsen, Thomas Sevenius; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Corley, Robin P; Hjelmborg, Jacob V B; Goldberg, Jack H; Iwatani, Yoshinori; Watanabe, Mikio; Honda, Chika; Inui, Fujio; Rasmussen, Finn; Huibregtse, Brooke M; Boomsma, Dorret I; Sørensen, Thorkild I A; Kaprio, Jaakko; Silventoinen, Karri

    2016-12-14

    Human height variation is determined by genetic and environmental factors, but it remains unclear whether their influences differ across birth-year cohorts. We conducted an individual-based pooled analysis of 40 twin cohorts including 143,390 complete twin pairs born 1886-1994. Although genetic variance showed a generally increasing trend across the birth-year cohorts, heritability estimates (0.69-0.84 in men and 0.53-0.78 in women) did not present any clear pattern of secular changes. Comparing geographic-cultural regions (Europe, North America and Australia, and East Asia), total height variance was greatest in North America and Australia and lowest in East Asia, but no clear pattern in the heritability estimates across the birth-year cohorts emerged. Our findings do not support the hypothesis that heritability of height is lower in populations with low living standards than in affluent populations, nor that heritability of height will increase within a population as living standards improve.

  8. Birthing Healthy Babies (A Minute of Health with CDC)

    Centers for Disease Control (CDC) Podcasts

    Birth defects are common, costly, and critical. If you're pregnant or planning to get pregnant, you can take steps to improve your chances of giving birth to a healthy child. This podcast discusses ways to prevent birth defects.

  9. Mortalidad por defectos al nacimiento en menores de 5 años de edad en México de 1998 a 2006 Birth defects mortality in five-year-old minors of age, Mexico, 1998-2006

    Directory of Open Access Journals (Sweden)

    Javier Valdés-Hernández

    2009-10-01

    Full Text Available OBJETIVOS: Analizar la mortalidad por defectos al nacimiento (DAN entre 1998 y 2006. Seleccionar los municipios con alta mortalidad en OBJECTIVE: To analyze mortality due to birth defects from 1998-2006. To select municipalities with high mortality among children under 5 years of age. MATERIAL AND METHODS: The source of information was mortality records from vital statistics collected by SSA/INEGI. We used the 2005 Municipal Geostatistical Framework by INEGI and SIGEPI for the spatial analysis. The selection criteria were municipalities with 80% and over of deaths due to birth defects. RESULTS: Deaths diminished 8% during 1998-2006 and rates decreased 20%. A total of 42.57% - 48% of deaths are due to circulatory system defects and 13.69% - 19.39% are due to the nervous system; the former rose 4% and the latter fell 32%. Eighty percent or more occur in children under 5 years and the rate in this group fell 8.63%. A total of 1 025 (41.82% municipalities are priorities, 104 (10.14% are high and 102 (9.95% are very high priorities, where 66% of deaths occur among children under 5 years old. DISCUSSION: The interventions to decrease mortality due to birth defects should be directed towards one-year-old children (75% and towards 8.4% of the municipalities that are a very high priority, since they represent 66% of the deaths.

  10. Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome.

    Science.gov (United States)

    Clotman, Frédéric; Libbrecht, Louis; Killingsworth, Murray C; Loo, Christine C K; Roskams, Tania; Lemaigre, Frédéric P

    2008-03-01

    Meckel syndrome is an autosomal-recessive disease characterized by a combination of renal cysts, anomalies of the central nervous system, polydactyly and ductal plate malformations (DPM), which are hepatic anomalies consisting of excessive and abnormal foetal biliary structures. Among the genomic loci associated with Meckel syndrome, mutations in four genes were recently identified. These genes code for proteins associated with primary cilia and are possibly involved in cell differentiation. The aim of the present work was to investigate the formation of the primary cilia and the differentiation of the hepatic cells in foetuses with Meckel syndrome. Sections of livers from human foetuses with Meckel syndrome were analysed by immunofluorescence, immunohistochemistry and electron microscopy. The primary cilia of the biliary cells were absent in some Meckel foetuses, but were present in others. In addition, defects in hepatic differentiation were observed in Meckel livers, as evidenced by the presence of hybrid cells co-expressing hepatocytic and biliary markers. Defects in cilia formation occur in some Meckel livers, and most cases show DPM associated with abnormal hepatic cell differentiation. Because differentiation precedes the formation of the cilia during liver development, we propose that defective differentiation may constitute the initial defect in the liver of Meckel syndrome foetuses.

  11. Retinoblastoma pathway defects show differential ability to activate the constitutive DNA damage response in human tumorigenesis

    DEFF Research Database (Denmark)

    Tort, F.; Bartkova, J.; Sehested, M.

    2006-01-01

    culture models with differential defects of retinoblastoma pathway components, as overexpression of cyclin D1 or lack of p16(Ink4a), either alone or combined, did not elicit detectable DDR. In contrast, inactivation of pRb, the key component of the pathway, activated the DDR in cultured human or mouse...... with their hierarchical positions along the retinoblastoma pathway. Our data provide new insights into oncogene-evoked DDR in human tumorigenesis, with potential implications for individualized management of tumors with elevated cyclin D1 versus cyclin E, due to their distinct clinical variables and biological behavior....

  12. Mineral balance studies in very low birth weight infants fed human milk

    International Nuclear Information System (INIS)

    Schanler, R.J.; Abrams, S.A.; Garza, C.

    1988-01-01

    Mineral homeostasis often is disrupted in the very low birth weight (VLBW) infant fed either human milk or commercial formula that contains insufficient quantities of available calcium (Ca) and phosphorus (P). Alterations in mineral homeostasis include abnormal patterns of serum (Ca and P concentrations and alkaline phosphatase activity) and urine (Ca and P) biochemical markers, low net Ca and P retentions in comparison with intrauterine estimates of mineral accretion, and decreased bone mineral content. A two-phase study was conducted in our laboratory to test for these alterations in mineral homeostasis. In phase 1, VLBW infants fed a preparation of fortified human milk (either human milk-derived fortifier I or II or cow milk-derived fortifier) or cow milk-based formula specially designed for VLBW infants were evaluated during their hospitalization. In phase 2, after hospitalization, these infants were evaluated during the first 6 months of life when fed either their mother's milk or routine formula exclusively. The bioavailability of Ca and P from the tested preparations varied widely. Although the fortification of human milk resulted in both an improved biochemical pattern and net retention of Ca and P, optimal intrauterine mineral accretion was not achieved in any group tested. Longitudinal assessments of bone mineralization, by single photon absorptiometry, demonstrated that human milk-fed former VLBW infants had reduced bone mineral content. These investigations suggest that former VLBW infants fed human milk exclusively may be at risk for Ca and P deficiencies

  13. The human milk project: a quality improvement initiative to increase human milk consumption in very low birth weight infants.

    Science.gov (United States)

    Ward, Laura; Auer, Christine; Smith, Carrie; Schoettker, Pamela J; Pruett, Raymond; Shah, Nilesh Y; Kotagal, Uma R

    2012-08-01

    Human milk has well-established health benefits for preterm infants. We conducted a multidisciplinary quality improvement effort aimed at providing at least 500 mL of human milk/kg in the first 14 days of life to very low birth weight (VLBW) (milk program, and twice-daily physician evaluation of infants' ability to tolerate feedings. The number of infants receiving at least 500 mL of human milk/kg in their first 14 days of life increased from 50% to 80% within 11 months of implementation, and this increase has been sustained for 4 years. Infants who met the feeding goal because they received donor milk increased each year. Since September 2007, infants have received, on average, 1,111 mL of human milk/kg. Approximately 4% of infants did not receive any human milk. Respiratory instability was the most frequent physiological reason given by clinicians for not initiating or advancing feedings in the first 14 days of life. Our quality improvement initiative resulted in a higher consumption of human milk in VLBW infants in the first 14 days of life. Other clinicians can use these described quality improvement methods and techniques to improve their VLBW babies' consumption of human milk.

  14. Congenital Heart Defects and CCHD

    Science.gov (United States)

    ... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

  15. Human myotubes from myoblast cultures undergoing senescence exhibit defects in glucose and lipid metabolism

    DEFF Research Database (Denmark)

    Nehlin, Jan O; Just, Marlene; Rustan, Arild C

    2011-01-01

    Adult stem cells are known to have a finite replication potential. Muscle biopsy-derived human satellite cells (SCs) were grown at different passages and differentiated to human myotubes in culture to analyze the functional state of various carbohydrate and lipid metabolic pathways. As the prolif......Adult stem cells are known to have a finite replication potential. Muscle biopsy-derived human satellite cells (SCs) were grown at different passages and differentiated to human myotubes in culture to analyze the functional state of various carbohydrate and lipid metabolic pathways...... number and could be explained by reduced incorporation into diacyl- and triacylglycerols. The levels of long-chain acyl-CoA esters decreased with increased passage number. Late-passage, non-proliferating, myoblast cultures showed strong senescence-associated β-galactosidase activity indicating...... that the observed metabolic defects accompany the induction of a senescent state. The main function of SCs is regeneration and skeletal muscle-build up. Thus, the metabolic defects observed during aging of SC-derived myotubes could have a role in sarcopenia, the gradual age-related loss of muscle mass and strength....

  16. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

    Science.gov (United States)

    Vetrini, Francesco; D'Alessandro, Lisa C A; Akdemir, Zeynep C; Braxton, Alicia; Azamian, Mahshid S; Eldomery, Mohammad K; Miller, Kathryn; Kois, Chelsea; Sack, Virginia; Shur, Natasha; Rijhsinghani, Asha; Chandarana, Jignesh; Ding, Yan; Holtzman, Judy; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Hanchard, Neil A; Harel, Tamar; Rosenfeld, Jill A; Belmont, John W; Lupski, James R; Yang, Yaping

    2016-10-06

    Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of laterality defects in humans are highly heterogeneous. Via whole-exome sequencing (WES), we identified homozygous mutations in PKD1L1 from three affected individuals in two unrelated families. PKD1L1 encodes a polycystin-1-like protein and its loss of function is known to cause laterality defects in mouse and medaka fish models. Family 1 had one fetus and one deceased child with heterotaxy and complex congenital heart malformations. WES identified a homozygous splicing mutation, c.6473+2_6473+3delTG, which disrupts the invariant splice donor site in intron 42, in both affected individuals. In the second family, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT and congenital heart disease. The p.Cys1691Ser substitution affects a highly conserved cysteine residue and is predicted by molecular modeling to disrupt a disulfide bridge essential for the proper folding of the G protein-coupled receptor proteolytic site (GPS) motif. Damaging effects associated with substitutions of this conserved cysteine residue in the GPS motif have also been reported in other genes, namely GPR56, BAI3, and PKD1 in human and lat-1 in C. elegans, further supporting the likely pathogenicity of p.Cys1691Ser in PKD1L1. The identification of bi-allelic PKD1L1 mutations recapitulates previous findings regarding phenotypic consequences of loss of function of the orthologous genes in mice and medaka fish and further expands our understanding of genetic contributions to laterality defects in humans. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  17. Data linkage between the National Birth Defects Prevention Study and the Occupational Information Network (O*NET) to assess workplace physical activity, sedentary behaviors, and emotional stressors during pregnancy.

    Science.gov (United States)

    Lee, Laura J; Symanski, Elaine; Lupo, Philip J; Tinker, Sarah C; Razzaghi, Hilda; Pompeii, Lisa A; Hoyt, Adrienne T; Canfield, Mark A; Chan, Wenyaw

    2016-02-01

    Knowledge of the prevalence of work-related physical activities, sedentary behaviors, and emotional stressors among pregnant women is limited, and the extent to which these exposures vary by maternal characteristics remains unclear. Data on mothers of 6,817 infants without major birth defects, with estimated delivery during 1997 through 2009 who worked during pregnancy were obtained from the National Birth Defects Prevention Study. Information on multiple domains of occupational exposures was gathered by linking mother's primary job to the Occupational Information Network Version 9.0. The most frequent estimated physical activity associated with jobs during pregnancy was standing. Of 6,337 mothers, 31.0% reported jobs associated with standing for ≥75% of their time. There was significant variability in estimated occupational exposures by maternal age, race/ethnicity, and educational level. Our findings augment existing literature on occupational physical activities, sedentary behaviors, emotional stressors, and occupational health disparities during pregnancy. © 2015 Wiley Periodicals, Inc.

  18. Lymphocyte subsets in human immunodeficiency virus-unexposed Brazilian individuals from birth to adulthood

    Directory of Open Access Journals (Sweden)

    Maria Isabel de Moraes-Pinto

    2014-12-01

    Full Text Available Ethnic origin, genetics, gender and environmental factors have been shown to influence some immunologic indices, so that development of reference values for populations of different backgrounds may be necessary. We have determined the distribution of lymphocyte subsets in healthy Brazilian individuals from birth to adulthood. Lymphocyte subsets were determined using four-colour cytometry in a cross-sectional study of 463 human immunodeficiency virus-unexposed children and adults from birth through 49 years of age. Lymphocyte subsets varied according to age, as previously observed in other studies. However, total CD4+ T cell numbers were lower than what was described in the Pediatric AIDS Clinical Trials Group P1009 (PACTG P1009, which assessed an American population of predominantly African and Hispanic backgrounds until the 12-18 year age range, when values were comparable. Naïve percentages and absolute values of CD8+ T cells, as assessed by CD45RA expression, were also lower than the PACTG P1009 data for all analysed age ranges. CD38 expression on both CD4+ and CD8+ T cells was lower than the PACTG P1009 values, with a widening gap between the two studies at older age ranges. Different patterns of cell differentiation seem to occur in different settings and may have characteristic expression within each population.

  19. Revisiting the daily human birth pattern: time of delivery at Casa de Maternidad in Madrid (1887-1892).

    Science.gov (United States)

    Varea, Carlos; Fernández-Cerezo, Susana

    2014-01-01

    Among the ancestral characteristics of the primate group to which Homo sapiens belongs we find a pattern of daytime physical activity, but one notable exception is birthing which usually begins with night-time labor. In populations with a moderate or high level of medicalized labor, there is evidence that the medical preferences interfere with the underlying biological mechanism for the circadian pattern of human birth. This study analyses the hourly patterns of 4,599 single live births in the House of Maternity in Madrid between 1887 and 1892, a period of very limited obstetric intervention and without the influence of artificial lighting. In order to determine the influence of natural light on labor, two periods of maximum and minimum light have been established around the summer and winter solstices of the years in question. A clear circadian pattern of births emerges, with very early morning and early morning births dominating, and a sharp drop from midday until nightfall. The hourly distribution on both solstices follows this pattern, but with a clear peak shift: in winter, there is a greater concentration of deliveries in the early morning, whereas in the summer, the highest concentration is between 8 and 12 in the morning. The results confirm that non-intervened human birth has a clear diurnal cycle, with a higher incidence of deliveries in the early morning or morning. The shift in distribution during the winter and summer solstices seems to confirm the effect of light on the labor process. © 2014 Wiley Periodicals, Inc.

  20. Chemosensitivity of primary human fibroblasts with defective unhooking of DNA interstrand cross-links

    International Nuclear Information System (INIS)

    Clingen, Peter H.; Arlett, Colin F.; Hartley, John A.; Parris, Christopher N.

    2007-01-01

    Xeroderma pigmentosum (XP) is characterised by defects in nucleotide excision repair, ultraviolet (UV) radiation sensitivity and increased skin carcinoma. Compared to other complementation groups, XP-F patients show relatively mild cutaneous symptoms. DNA interstrand cross-linking agents are a highly cytotoxic class of DNA damage induced by common cancer chemotherapeutics such as cisplatin and nitrogen mustards. Although the XPF-ERCC1 structure-specific endonuclease is required for the repair of ICLs cellular sensitivity of primary human XP-F cells has not been established. In clonogenic survival assays, primary fibroblasts from XP-F patients were moderately sensitive to both UVC and HN2 compared to normal cells (2- to 3-fold and 3- to 5-fold, respectively). XP-A fibroblasts were considerably more sensitive to UVC (10- to 12-fold) but not sensitive to HN2. The sensitivity of XP-F fibroblasts to HN2 correlated with the defective incision or 'unhooking' step of ICL repair. Using the comet assay, XP-F cells exhibited only 20% residual unhooking activity over 24 h. Over the same time, normal and XP-A cells unhooked greater than 95% and 62% of ICLs, respectively. After HN2 treatment, ICL-associated DNA double-strand breaks (DSBs) are detected by pulse field gel electrophoresis in dividing cells. Induction and repair of DNA DSBs was normal in XP-F fibroblasts. These findings demonstrate that in primary human fibroblasts, XPF is required for the unhooking of ICLs and not for the induction or repair of ICL-associated DNA DSBs induced by HN2. In terms of cancer chemotherapy, people with mild DNA repair defects affecting ICL repair may be more prevalent in the general population than expected. Since cellular sensitivity of primary human fibroblasts usually reflects clinical sensitivity such patients with cancer would be at risk of increased toxicity

  1. Visual Field Defects and Retinal Ganglion Cell Losses in Human Glaucoma Patients

    Science.gov (United States)

    Harwerth, Ronald S.; Quigley, Harry A.

    2007-01-01

    Objective The depth of visual field defects are correlated with retinal ganglion cell densities in experimental glaucoma. This study was to determine whether a similar structure-function relationship holds for human glaucoma. Methods The study was based on retinal ganglion cell densities and visual thresholds of patients with documented glaucoma (Kerrigan-Baumrind, et al.) The data were analyzed by a model that predicted ganglion cell densities from standard clinical perimetry, which were then compared to histologic cell counts. Results The model, without free parameters, produced accurate and relatively precise quantification of ganglion cell densities associated with visual field defects. For 437 sets of data, the unity correlation for predicted vs. measured cell densities had a coefficient of determination of 0.39. The mean absolute deviation of the predicted vs. measured values was 2.59 dB, the mean and SD of the distribution of residual errors of prediction was -0.26 ± 3.22 dB. Conclusions Visual field defects by standard clinical perimetry are proportional to neural losses caused by glaucoma. Clinical Relevance The evidence for quantitative structure-function relationships provides a scientific basis of interpreting glaucomatous neuropathy from visual thresholds and supports the application of standard perimetry to establish the stage of the disease. PMID:16769839

  2. Maternal and infant characteristics associated with human milk feeding in very low birth weight infants.

    Science.gov (United States)

    Sisk, Paula M; Lovelady, Cheryl A; Dillard, Robert G; Gruber, Kenneth J; O'Shea, T Michael

    2009-11-01

    This study identified maternal and infant characteristics predicting human milk (HM) feeding in very low birth weight (VLBW) infants whose mothers (n = 184) participated in a study of lactation counseling and initiated milk expression. Data were collected prospectively, by maternal interview and medical record review. During hospitalization, 159 (86%) infants received at least 50% HM proportion of feedings in the first 2 weeks of life, and 114 (62%) received some HM until the day of hospital discharge. Analysis showed plan to breastfeed was the strongest predictor of initiation and duration of HM feeding. Greater than 12 years of education, respiratory distress syndrome, Apgar score >6, and female gender were significant predictors, and no perinatal hypertensive disorder, white race, and mechanical ventilation were marginal predictors of HM feeding. Women with a high-risk pregnancy should be provided education about the benefits of breastfeeding for infants who are likely to be born prematurely.

  3. The impact of thickness of resorbable membrane of human origin on the ossification of bone defects: A pathohistologic study

    Directory of Open Access Journals (Sweden)

    Bubalo Marija

    2012-01-01

    Full Text Available Background/Aim. A wide range of resorbable and nonresorbable membranes have been investigated over the last two decades. The barrier membrane protects the defect from ingrowth of soft tissue cells and allows bone progenitor cells to develop bone within a blood clot that is formed beneath the barrier membrane. The membranes are applied to reconstruct small bony defect prior to implantation, to cover dehiscences and fenestrations around dental implants. The aim of this study was to evaluate the influence of human resorbable demineralized membrane (RHDM thickness on bone regeneration. Methods. The experiment, approved by Ethical Committee, was performed on 6 dogs and conducted into three phases. Bone defects were created in all the 6 dogs on the left side of the mandible, 8 weeks after extraction of second, third and fourth premolars. One defect was covered with RHDM 100 μ thick, one with RHDM 200 μ thick, and the third defect left empty (control defect. The histopathological analysis was done 2, 4 and 6 months after the surgery. In the third phase samples of bone tissue were taken and subjected to histopathological analysis. Results. In all the 6 dogs the defects treated with RHDM 200 μ thick showed higher level of bone regeneration in comparison with the defect treated with RHDM 100 μ thick and especially with empty defect. Conclusion. Our results demonstrated that the thicker membrane showed the least soft tissue ingrowths and promoted better bone formation at 6 months compared with a thinner one.

  4. Effect of birth weight and 12 weeks of exercise training on exercise-induced AMPK signaling in human skeletal muscle

    DEFF Research Database (Denmark)

    Mortensen, Brynjulf; Hingst, Janne Rasmuss; Frederiksen, Nicklas

    2013-01-01

    . We investigated 21 LBW and 21 normal birth weight (NBW) subjects during 1 hour of acute exercise performed at the same relative workload before and after 12 weeks of exercise training. Multiple skeletal muscle biopsies were obtained before and after exercise. Protein levels and phosphorylation status......Subjects with a low birth weight (LBW) display increased risk of developing type 2 diabetes (T2D). We hypothesized that this is associated with defects in muscle adaptations following acute and regular physical activity, evident by impairments in the exercise-induced activation of AMPK signaling...... were determined by Western blotting. AMPK activities were measured using activity assays. Protein levels of AMPK isoforms a1 and ¿1 were significantly increased while ¿3 levels decreased with training independent of group. The LBW group had higher exercise-induced AMPK Thr(172) phosphorylation before...

  5. Guidance for Preventing Birth Defects

    Science.gov (United States)

    ... start in life will help you to have peace of mind. Before pregnancy » During pregnancy » To learn ... value="Submit" /> Information For… Media Policy Makers Language: English (US) Español (Spanish) File Formats Help: How ...

  6. Reducing Risks of Birth Defects

    Science.gov (United States)

    ... a small number of cases, the infection can cause intellectual disability, hearing loss, and vision problems. CMV can be spread by contact with an infected child’s urine or other body fluids. Pregnant women who work with young children, such as day care workers ...

  7. Birth Defects & Other Health Conditions

    Science.gov (United States)

    ... Careers Archives Health Topics Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Report Cards Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  8. Screening Tests for Birth Defects

    Science.gov (United States)

    ... that best fit your needs. What are the advantages and disadvantages of diagnostic tests compared with screening ... Us Contact Us Copyright Information Privacy Statement RSS Advertising Opportunities Careers at ACOG Sitemap Website Feedback American ...

  9. Birth defects surveillance·

    African Journals Online (AJOL)

    1989-07-01

    Jul 1, 1989 ... to potential changes in water quality in the Cape Peninsula. The methodology used for .... (Spain and Mexico), the ranges shown for the two countries overlap the 95% .... Water Pollution Control Federation. Water Reuse: ...

  10. Human-Based Human Milk Fortifier as Rescue Therapy in Very Low Birth Weight Infants Demonstrating Intolerance to Bovine-Based Human Milk Fortifier.

    Science.gov (United States)

    Sandhu, Amanjot; Fast, Sharla; Bonnar, Kari; Baier, Ronald John; Narvey, Michael

    2017-11-01

    To describe the results of utilizing a human milk-based human milk fortifier (HMHMF) as rescue therapy to meet nutritional requirements in very low birth weight and preterm infants demonstrating feeding intolerance to bovine-based human milk fortifier (BHMF) in the Canadian Neonatal Intensive Care Unit (NICU) setting. At two Level III NICUs in Winnipeg, MB, Canada, a rescue protocol was implemented to provide HMHMF for infants demonstrating intolerance to BHMF. To qualify for rescue, infants were required to experience two episodes of significant gastrointestinal (GI) symptoms associated with fortification with BHMF. A case series report was conducted retrospectively examining the success of rescue therapy, growth rates, protein, and calorie intakes before and after initiation of HMHMF in seven infants. Seven infants (birth weight 723 ± 247 g, gestation 25.3 ± 3.4 weeks) were treated with rescue fortification with HMHMF. All infants were transitioned off parenteral nutrition (PN) without relapse of GI symptoms. Growth rate, protein, and calorie intakes improved with the use of HMHMF. Very low birth weight and preterm infants with GI intolerance to BHMF were successfully rescued with use of HMHMF. Improvements in growth were achieved without need for supplementation with PN through achievement of sufficient enteral calorie and protein intakes.

  11. In vitro chondrogenesis and in vivo repair of osteochondral defect with human induced pluripotent stem cells.

    Science.gov (United States)

    Ko, Ji-Yun; Kim, Kyung-Il; Park, Siyeon; Im, Gun-Il

    2014-04-01

    The purpose of this study was to investigate the chondrogenic features of human induced pluripotent stem cells (hiPSCs) and examine the differences in the chondrogenesis between hiPSCs and human bone marrow-derived MSCs (hBMMSCs). Embryoid bodies (EBs) were formed from undifferentiated hiPSCs. After EBs were dissociated into single cells, chondrogenic culture was performed in pellets and alginate hydrogel. Chondro-induced hiPSCs were implanted in osteochondral defects created on the patellar groove of immunosuppressed rats and evaluated after 12 weeks. The ESC markers NANOG, SSEA4 and OCT3/4 disappeared while the mesodermal marker BMP-4 appeared in chondro-induced hiPSCs. After 21 days of culture, greater glycosaminoglycan contents and better chondrocytic features including lacuna and abundant matrix formation were observed from chondro-induced hiPSCs compared to chondro-induced hBMMSCs. The expression of chondrogenic markers including SOX-9, type II collagen, and aggrecan in chondro-induced hiPSCs was comparable to or greater than chondro-induced hBMMSCs. A remarkably low level of hypertrophic and osteogenic markers including type X collagen, type I collagen and Runx-2 was noted in chondro-induced hiPSCs compared to chondro-induced hBMMSCs. hiPSCs had significantly greater methylation of several CpG sites in COL10A1 promoter than hBMMSCs in either undifferentiated or chondro-induced state, suggesting an epigenetic cause of the difference in hypertrophy. The defects implanted with chondro-induced hiPSCs showed a significantly better quality of cartilage repair than the control defects, and the majority of cells in the regenerated cartilage consisted of implanted hiPSCs. Copyright © 2014 Elsevier Ltd. All rights reserved.

  12. Early-life experiences and the development of adult diseases with a focus on mental illness: The Human Birth Theory.

    Science.gov (United States)

    Maccari, Stefania; Polese, Daniela; Reynaert, Marie-Line; Amici, Tiziana; Morley-Fletcher, Sara; Fagioli, Francesca

    2017-02-07

    In mammals, early adverse experiences, including mother-pup interactions, shape the response of an individual to chronic stress or to stress-related diseases during adult life. This has led to the elaboration of the theory of the developmental origins of health and disease, in particular adult diseases such as cardiovascular and metabolic disorders. In addition, in humans, as stated by Massimo Fagioli's Human Birth Theory, birth is healthy and equal for all individuals, so that mental illness develop exclusively in the postnatal period because of the quality of the relationship in the first year of life. Thus, this review focuses on the importance of programming during the early developmental period on the manifestation of adult diseases in both animal models and humans. Considering the obvious differences between animals and humans we cannot systematically move from animal models to humans. Consequently, in the first part of this review, we will discuss how animal models can be used to dissect the influence of adverse events occurring during the prenatal and postnatal periods on the developmental trajectories of the offspring, and in the second part, we will discuss the role of postnatal critical periods on the development of mental diseases in humans. Epigenetic mechanisms that cause reversible modifications in gene expression, driving the development of a pathological phenotype in response to a negative early postnatal environment, may lie at the core of this programming, thereby providing potential new therapeutic targets. The concept of the Human Birth Theory leads to a comprehension of the mental illness as a pathology of the human relationship immediately after birth and during the first year of life. Copyright © 2016 IBRO. Published by Elsevier Ltd. All rights reserved.

  13. Preterm Labor and Birth

    Science.gov (United States)

    ... Facebook Twitter Pinterest Email Print Preterm Labor and Birth In general, a normal human pregnancy lasts about ... is called preterm labor (or premature labor). A birth that occurs before 37 weeks is considered a ...

  14. Complementation of a DNA repair defect in xeroderma pigmentosum cells by transfer of human chromosome 9

    International Nuclear Information System (INIS)

    Kaur, G.P.; Athwal, R.S.

    1989-01-01

    Complementation of the repair defect in xeroderma pigmentosum cells of complementation group A was achieved by the transfer of human chromosome 9. A set of mouse-human hybrid cell lines, each containing a single Ecogpt-marked human chromosome, was used as a source of donor chromosomes. Chromosome transfer to XPTG-1 cells, a hypoxanthine/guanine phosphoribosyltransferase-deficient mutant of simian virus 40-transformed complementation group A cells, was achieved by microcell fusion and selection for Ecogpt. Chromosome-transfer clones of XPTG-1 cells, each containing a different human donor chromosome, were analyzed for complementation of sensitivity to UV irradiation. Among all the clones, increased levels of resistance to UV was observed only in clones containing chromosome 9. Since our recipient cell line XPTG-1 is hypoxanthine/guanine phosphoribosyltransferase deficient, cultivation of Ecogpt+ clones in medium containing 6-thioguanine permits selection of cells for loss of the marker and, by inference, transferred chromosome 9. Clones isolated for growth in 6-thioguanine, which have lost the Ecogpt-marked chromosome, exhibited a UV-sensitive phenotype, confirming the presence of the repair gene(s) for complementation group A on chromosome 9

  15. Localized ridge defect augmentation using human pericardium membrane and demineralized bone matrix.

    Science.gov (United States)

    Vidyadharan, Arun Kumar; Ravindran, Anjana

    2014-01-01

    Patient wanted to restore her lost teeth with implants in the lower left first molar and second premolar region. Cone beam computerized tomography (CBCT) revealed inadequate bone width and height around future implant sites. The extraction socket of second premolar area revealed inadequate socket healing with sparse bone fill after 4 months of extraction. To evaluate the clinical feasibility of using a collagen physical resorbable barrier made of human pericardium (HP) to augment localized alveolar ridge defects for the subsequent placement of dental implants. Ridge augmentation was done in the compromised area using Puros® demineralized bone matrix (DBM) Putty with chips and an HP allograft membrane. Horizontal (width) and vertical hard tissue measurements with CBCT were recorded on the day of ridge augmentation surgery, 4 month and 7 months follow-up. Intra oral periapical taken 1 year after implant installation showed minimal crestal bone loss. Bone volume achieved through guided bone regeneration was a gain of 4.8 mm horizontally (width) and 6.8 mm vertically in the deficient ridge within a period of 7 months following the procedure. The results suggested that HP Allograft membrane may be a suitable component for augmentation of localized alveolar ridge defects in conjunction with DBM with bone chips.

  16. Cross-Country Individual Participant Analysis of 4.1 Million Singleton Births in 5 Countries with Very High Human Development Index Confirms Known Associations but Provides No Biologic Explanation for 2/3 of All Preterm Births.

    Science.gov (United States)

    Ferrero, David M; Larson, Jim; Jacobsson, Bo; Di Renzo, Gian Carlo; Norman, Jane E; Martin, James N; D'Alton, Mary; Castelazo, Ernesto; Howson, Chris P; Sengpiel, Verena; Bottai, Matteo; Mayo, Jonathan A; Shaw, Gary M; Verdenik, Ivan; Tul, Nataša; Velebil, Petr; Cairns-Smith, Sarah; Rushwan, Hamid; Arulkumaran, Sabaratnam; Howse, Jennifer L; Simpson, Joe Leigh

    2016-01-01

    Preterm birth is the most common single cause of perinatal and infant mortality, affecting 15 million infants worldwide each year with global rates increasing. Understanding of risk factors remains poor, and preventive interventions have only limited benefit. Large differences exist in preterm birth rates across high income countries. We hypothesized that understanding the basis for these wide variations could lead to interventions that reduce preterm birth incidence in countries with high rates. We thus sought to assess the contributions of known risk factors for both spontaneous and provider-initiated preterm birth in selected high income countries, estimating also the potential impact of successful interventions due to advances in research, policy and public health, or clinical practice. We analyzed individual patient-level data on 4.1 million singleton pregnancies from four countries with very high human development index (Czech Republic, New Zealand, Slovenia, Sweden) and one comparator U.S. state (California) to determine the specific contribution (adjusting for confounding effects) of 21 factors. Both individual and population-attributable preterm birth risks were determined, as were contributors to cross-country differences. We also assessed the ability to predict preterm birth given various sets of known risk factors. Previous preterm birth and preeclampsia were the strongest individual risk factors of preterm birth in all datasets, with odds ratios of 4.6-6.0 and 2.8-5.7, respectively, for individual women having those characteristics. In contrast, on a population basis, nulliparity and male sex were the two risk factors with the highest impact on preterm birth rates, accounting for 25-50% and 11-16% of excess population attributable risk, respectively (pbirth within each country lacks a plausible biologic explanation, and 63% of difference between countries cannot be explained with known factors; thus, research is necessary to elucidate the underlying

  17. A Defective Interfering Influenza RNA Inhibits Infectious Influenza Virus Replication in Human Respiratory Tract Cells: A Potential New Human Antiviral

    Directory of Open Access Journals (Sweden)

    Claire M. Smith

    2016-08-01

    Full Text Available Defective interfering (DI viruses arise during the replication of influenza A virus and contain a non-infective version of the genome that is able to interfere with the production of infectious virus. In this study we hypothesise that a cloned DI influenza A virus RNA may prevent infection of human respiratory epithelial cells with infection by influenza A. The DI RNA (244/PR8 was derived by a natural deletion process from segment 1 of influenza A/PR/8/34 (H1N1; it comprises 395 nucleotides and is packaged in the DI virion in place of a full-length genome segment 1. Given intranasally, 244/PR8 DI virus protects mice and ferrets from clinical influenza caused by a number of different influenza A subtypes and interferes with production of infectious influenza A virus in cells in culture. However, evidence that DI influenza viruses are active in cells of the human respiratory tract is lacking. Here we show that 244/PR8 DI RNA is replicated by an influenza A challenge virus in human lung diploid fibroblasts, bronchial epithelial cells, and primary nasal basal cells, and that the yield of challenge virus is significantly reduced in a dose-dependent manner indicating that DI influenza virus has potential as a human antiviral.

  18. Primary ciliogenesis defects are associated with human astrocytoma/glioblastoma cells

    Directory of Open Access Journals (Sweden)

    Rattner Jerome B

    2009-12-01

    Full Text Available Abstract Background Primary cilia are non-motile sensory cytoplasmic organelles that have been implicated in signal transduction, cell to cell communication, left and right pattern embryonic development, sensation of fluid flow, regulation of calcium levels, mechanosensation, growth factor signaling and cell cycle progression. Defects in the formation and/or function of these structures underlie a variety of human diseases such as Alström, Bardet-Biedl, Joubert, Meckel-Gruber and oral-facial-digital type 1 syndromes. The expression and function of primary cilia in cancer cells has now become a focus of attention but has not been studied in astrocytomas/glioblastomas. To begin to address this issue, we compared the structure and expression of primary cilia in a normal human astrocyte cell line with five human astrocytoma/glioblastoma cell lines. Methods Cultured normal human astrocytes and five human astrocytoma/glioblastoma cell lines were examined for primary cilia expression and structure using indirect immunofluorescence and electron microscopy. Monospecific antibodies were used to detect primary cilia and map the relationship between the primary cilia region and sites of endocytosis. Results We show that expression of primary cilia in normal astrocytes is cell cycle related and the primary cilium extends through the cell within a unique structure which we show to be a site of endocytosis. Importantly, we document that in each of the five astrocytoma/glioblastoma cell lines fully formed primary cilia are either expressed at a very low level, are completely absent or have aberrant forms, due to incomplete ciliogenesis. Conclusions The recent discovery of the importance of primary cilia in a variety of cell functions raises the possibility that this structure may have a role in a variety of cancers. Our finding that the formation of the primary cilium is disrupted in cells derived from astrocytoma/glioblastoma tumors provides the first

  19. Human Neonatal Rotavirus Vaccine (RV3-BB) to Target Rotavirus from Birth.

    Science.gov (United States)

    Bines, Julie E; At Thobari, Jarir; Satria, Cahya Dewi; Handley, Amanda; Watts, Emma; Cowley, Daniel; Nirwati, Hera; Ackland, James; Standish, Jane; Justice, Frances; Byars, Gabrielle; Lee, Katherine J; Barnes, Graeme L; Bachtiar, Novilia S; Viska Icanervilia, Ajeng; Boniface, Karen; Bogdanovic-Sakran, Nada; Pavlic, Daniel; Bishop, Ruth F; Kirkwood, Carl D; Buttery, Jim P; Soenarto, Yati

    2018-02-22

    A strategy of administering a neonatal rotavirus vaccine at birth to target early prevention of rotavirus gastroenteritis may address some of the barriers to global implementation of a rotavirus vaccine. We conducted a randomized, double-blind, placebo-controlled trial in Indonesia to evaluate the efficacy of an oral human neonatal rotavirus vaccine (RV3-BB) in preventing rotavirus gastroenteritis. Healthy newborns received three doses of RV3-BB, administered according to a neonatal schedule (0 to 5 days, 8 weeks, and 14 weeks of age) or an infant schedule (8 weeks, 14 weeks, and 18 weeks of age), or placebo. The primary analysis was conducted in the per-protocol population, which included only participants who received all four doses of vaccine or placebo within the visit windows, with secondary analyses performed in the intention-to-treat population, which included all participants who underwent randomization. Among the 1513 participants in the per-protocol population, severe rotavirus gastroenteritis occurred up to the age of 18 months in 5.6% of the participants in the placebo group (28 of 504 babies), in 1.4% in the neonatal-schedule vaccine group (7 of 498), and in 2.7% in the infant-schedule vaccine group (14 of 511). This resulted in a vaccine efficacy of 75% (95% confidence interval [CI], 44 to 91) in the neonatal-schedule group (PBill and Melinda Gates Foundation and others; Australian New Zealand Clinical Trials Registry number, ACTRN12612001282875 .).

  20. Enamel Defects of Human Primary Dentition as Virtual Memory of Early Developmental Events

    Directory of Open Access Journals (Sweden)

    Naser Asl Aminabadi

    2009-12-01

    Full Text Available Background and aims. The objectives of the present study were to investigate the prevalence and the position of enamel defects of primary teeth and hence to estimate the approximate time of an insult. Material and methods. 121 children aged 3 to 5 years were included in the study. The Modified Developmental Defects of Enamel Index was used to diagnose and classify the defects. The defects were categorized as hypoplasia, hypocalcification or a combination of them. Each tooth was investigated for occlusal/incisal, middle, cervical, incisomiddle, cervicomiddle and complete crown defects. Results. 55.37% of the children were affected by enamel defects, 23.96% being categorized as hypocalcification and 22.31% as hypoplasia. The enamel defects were more abundant in maxillary primary incisors and mandibular primary canines. Minimum involvement was seen in maxillary primary second molars and mandibular primary lateral incisors. The prevalence of cervical defects in maxillary primary incisors was significantly more than the middle or incisal defects (P < 0.05. The prevalence of incisal defects in mandibular primary incisors was significantly more than the middle or cervical defects (P < 0.05. Conclusions. The results revealed a considerable number of enamel defects which are multiple, symmetric and chronologically accordant with the estimated neonatal line in primary teeth of healthy children.

  1. Vital Signs: Update on Zika Virus–Associated Birth Defects and Evaluation of All U.S. Infants with Congenital Zika Virus Exposure — U.S. Zika Pregnancy Registry, 2016

    Science.gov (United States)

    Reynolds, Megan R.; Jones, Abbey M.; Petersen, Emily E.; Lee, Ellen H.; Rice, Marion E.; Bingham, Andrea; Ellington, Sascha R.; Evert, Nicole; Reagan-Steiner, Sarah; Oduyebo, Titilope; Brown, Catherine M.; Martin, Stacey; Ahmad, Nina; Bhatnagar, Julu; Macdonald, Jennifer; Gould, Carolyn; Fine, Anne D.; Polen, Kara D.; Lake-Burger, Heather; Hillard, Christina L.; Hall, Noemi; Yazdy, Mahsa M.; Slaughter, Karnesha; Sommer, Jamie N.; Adamski, Alys; Raycraft, Meghan; Fleck-Derderian, Shannon; Gupta, Jyoti; Newsome, Kimberly; Baez-Santiago, Madelyn; Slavinski, Sally; White, Jennifer L.; Moore, Cynthia A.; Shapiro-Mendoza, Carrie K.; Petersen, Lyle; Boyle, Coleen; Jamieson, Denise J.; Meaney-Delman, Dana; Adair, Jennifer; Ruberto, Irene; Haselow, Dirk T.; Im, Lucille; Jilek, Wendy; Lehmann, Monica S.; Olney, Richard; Porse, Charsey Cole; Ramstrom, Karen C.; Sowunmi, Similoluwa; Marzec, Natalie S.; Davis, Karin; Esponda-Morrison, Brenda; Fraser, M. Zachariah; O'Connor, Colleen Ann; Chung, Wendy; Richardson, Folasuyi; Sexton, Taylor; Stocks, Meredith E.; Woldai, Senait; Bundek, Amanda M.; Zambri, Jennifer; Goldberg, Cynthia; Eisenstein, Leah; Jackson, Jennifer; Kopit, Russell; Logue, Teresa; Mendoza, Raphael; Feldpausch, Amanda; Graham, Teri; Mann, Sylvia; Park, Sarah Y.; Carter, Kris Kelly; Potts, Emily J.; Stevens, Taryn; Simonson, Sean; Tonzel, Julius L.; Davis, Shari; Robinson, Sara; Hyun, Judie K.; Jenkins, Erin M.; Piccardi, Monika; Reid, Lawrence D.; Dunn, Julie E.; Higgins, Cathleen A.; Lin, Angela E.; Munshi, Gerlinde S.; Sandhu, Kayleigh; Scotland, Sarah J.; Soliva, Susan; Copeland, Glenn; Signs, Kimberly A.; Schiffman, Elizabeth; Byers, Paul; Hand, Sheryl; Mulgrew, Christine L.; Hamik, Jeff; Koirala, Samir; Ludwig, Lisa A.; Fredette, Carolyn Rose; Garafalo, Kristin; Worthington, Karen; Ropri, Abubakar; Ade, Julius Nchangtachi; Alaali, Zahra S.; Blog, Debra; Brunt, Scott J.; Bryant, Patrick; Burns, Amy E.; Bush, Steven; Carson, Kyle; Dean, Amy B.; Demarest, Valerie; Dufort, Elizabeth M.; Dupuis II, Alan P.; Sullivan-Frohm, Ann; Furuya, Andrea Marias; Fuschino, Meghan; Glaze, Viola H.; Griffin, Jacquelin; Hidalgo, Christina; Kulas, Karen E.; Lamson, Daryl M.; Lance, Lou Ann; Lee, William T.; Limberger, Ronald; Many, Patricia S.; Marchewka, Mary J.; Naizby, Brenda Elizabeth; Polfleit, MaryJo; Popowich, Michael; Rahman, Tabassum; Rem, Timothy; Robbins, Amy E.; Rowlands, Jemma V.; Seaver, Chantelle; Seward, Kimberley A.; Smith, Lou; Sohi, Inderbir; St. George, Kirsten; Souto, Maria I.; Wester, Rachel Elizabeth; Wong, Susan J.; Zeng, Li; Ackelsberg, Joel; Alex, Byron; Ballen, Vennus; Baumgartner, Jennifer; Bloch, Danielle; Clark, Sandhya; Conners, Erin; Cooper, Hannah; Davidson, Alexander; Dentinger, Catherine; Deocharan, Bisram; DeVito, Andrea; Fu, Jie; Hrusa, Gili; Iqbal, Maryam; Iwamoto, Martha; Jones, Lucretia; Kubinson, Hannah; Lash, Maura; Layton, Marcelle; Lee, Christopher T.; Liu, Dakai; McGibbon, Emily; Moy, Morgan; Ngai, Stephanie; Parton, Hilary B.; Peterson, Eric; Poy, Jose; Rakeman, Jennifer; Stoute, Alaina; Thompson, Corinne; Weiss, Don; Westheimer, Emily; Winters, Ann; Younis, Mohammad; Chan, Ronna L.; Cronquist, Laura Jean; Caton, Lisa; Lind, Leah; Nalluswami, Kumar; Perella, Dana; Brady, Diane S.; Gosciminski, Michael; McAuley, Patricia; Drociuk, Daniel; Leedom, Vinita; Witrick, Brian; Bollock, Jan; Hartel, Marie Bottomley; Lucinski, Loraine Swanson; McDonald, Morgan; Miller, Angela M.; Ponson, Tori Armand; Price, Laura; Nance, Amy E.; Peterson, Dallin; Cook, Sally; Martin, Brennan; Oltean, Hanna; Neary, Jillian; Baker, Melissa A.; Cummons, Kathy; Bryan, Katie; Arnold, Kathryn E.; Arth, Annelise C.; Bollweg, Brigid C.; Cragan, Janet D.; Dawson, April L.; Denison, Amy M.; Dziuban, Eric J.; Estetter, Lindsey; Silva-Flannery, Luciana; Free, Rebecca J.; Galang, Romeo R.; Gary, Joy; Goldsmith, Cynthia S.; Green, Caitlin; Hale, Gillian L.; Hayes, Heather M.; Igbinosa, Irogue; Keating, M. Kelly; Khan, Sumaiya; Kim, Shin Y.; Lampe, Margaret; Lewis, Amanda; Mai, Cara; Martines, Roosecelis Brasil; Miers, Brooke; Moore, Jazmyn; Muehlenbachs, Atis; Nahabedian, John; Panella, Amanda; Parihar, Vaunita; Patel, Mitesh M.; Rabeneck, D. Brett; Rasmussen, Sonja A.; Ritter, Jana M.; Rollin, Dominique C.; Sanders, Jeanine H.; Shieh, Wun-Ju; Simeone, Regina M.; Simon, Elizabeth L.; Sims, John R.; Spivey, Pamela J.; Talley-McRae, Helen; Tshiwala, Alphonse K.; VanMaldeghem, Kelley; Viens, Laura; Wainscott-Sargent, Anne; Williams, Tonya; Zaki, Sherif

    2017-01-01

    Background In collaboration with state, tribal, local, and territorial health departments, CDC established the U.S. Zika Pregnancy Registry (USZPR) in early 2016 to monitor pregnant women with laboratory evidence of possible recent Zika virus infection and their infants. Methods This report includes an analysis of completed pregnancies (which include live births and pregnancy losses, regardless of gestational age) in the 50 U.S. states and the District of Columbia (DC) with laboratory evidence of possible recent Zika virus infection reported to the USZPR from January 15 to December 27, 2016. Birth defects potentially associated with Zika virus infection during pregnancy include brain abnormalities and/or microcephaly, eye abnormalities, other consequences of central nervous system dysfunction, and neural tube defects and other early brain malformations. Results During the analysis period, 1,297 pregnant women in 44 states were reported to the USZPR. Zika virus–associated birth defects were reported for 51 (5%) of the 972 fetuses/infants from completed pregnancies with laboratory evidence of possible recent Zika virus infection (95% confidence interval [CI] = 4%–7%); the proportion was higher when restricted to pregnancies with laboratory-confirmed Zika virus infection (24/250 completed pregnancies [10%, 95% CI = 7%–14%]). Birth defects were reported in 15% (95% CI = 8%–26%) of fetuses/infants of completed pregnancies with confirmed Zika virus infection in the first trimester. Among 895 liveborn infants from pregnancies with possible recent Zika virus infection, postnatal neuroimaging was reported for 221 (25%), and Zika virus testing of at least one infant specimen was reported for 585 (65%). Conclusions and Implications for Public Health Practice These findings highlight why pregnant women should avoid Zika virus exposure. Because the full clinical spectrum of congenital Zika virus infection is not yet known, all infants born to women with laboratory

  2. Preventing preterm births: analysis of trends and potential reductions with interventions in 39 countries with very high human development index.

    Science.gov (United States)

    Chang, Hannah H; Larson, Jim; Blencowe, Hannah; Spong, Catherine Y; Howson, Christopher P; Cairns-Smith, Sarah; Lackritz, Eve M; Lee, Shoo K; Mason, Elizabeth; Serazin, Andrew C; Walani, Salimah; Simpson, Joe Leigh; Lawn, Joy E

    2013-01-19

    Every year, 1·1 million babies die from prematurity, and many survivors are disabled. Worldwide, 15 million babies are born preterm (rates in almost all countries with reliable data. The understanding of drivers and potential benefit of preventive interventions for preterm births is poor. We examined trends and estimate the potential reduction in preterm births for countries with very high human development index (VHHDI) if present evidence-based interventions were widely implemented. This analysis is to inform a rate reduction target for Born Too Soon. Countries were assessed for inclusion based on availability and quality of preterm prevalence data (2000-10), and trend analyses with projections undertaken. We analysed drivers of rate increases in the USA, 1989-2004. For 39 countries with VHHDI with more than 10,000 births, we did country-by-country analyses based on target population, incremental coverage increase, and intervention efficacy. We estimated cost savings on the basis of reported costs for preterm care in the USA adjusted using World Bank purchasing power parity. From 2010, even if all countries with VHHDI achieved annual preterm birth rate reductions of the best performers for 1990-2010 (Estonia and Croatia), 2000-10 (Sweden and Netherlands), or 2005-10 (Lithuania, Estonia), rates would experience a relative reduction of less than 5% by 2015 on average across the 39 countries. Our analysis of preterm birth rise 1989-2004 in USA suggests half the change is unexplained, but important drivers include non-medically indicated labour induction and caesarean delivery and assisted reproductive technologies. For all 39 countries with VHHDI, five interventions modelling at high coverage predicted a 5% relative reduction of preterm birth rate from 9·59% to 9·07% of livebirths: smoking cessation (0·01 rate reduction), decreasing multiple embryo transfers during assisted reproductive technologies (0·06), cervical cerclage (0·15), progesterone

  3. Do neural tube defects lead to structural alterations in the human bladder?

    Science.gov (United States)

    Pazos, Helena M F; Lobo, Márcio Luiz de P; Costa, Waldemar S; Sampaio, Francisco J B; Cardoso, Luis Eduardo M; Favorito, Luciano Alves

    2011-05-01

    Anencephaly is the most severe neural tube defect in human fetuses. The objective of this paper is to analyze the structure of the bladder in anencephalic human fetuses. We studied 40 bladders of normal human fetuses (20 male and 20 female, aged 14 to 23 WPC) and 12 bladders of anencephalic fetuses (5 male and 7 female, aged 18 to 22 WPC). The bladders were removed and processed by routine histological techniques. Stereological analysis of collagen, elastic system fibers and smooth muscle was performed in sections. Data were expressed as volumetric density (Vv-%). The images were captured with Olympus BX51 microscopy and Olympus DP70 camera. The stereological analysis was done using the software Image Pro and Image J. For biochemical analysis, samples were fixed in acetone, and collagen concentrations were expressed as micrograms of hydroxyproline per mg of dry tissue. Means were statistically compared using the unpaired t-test (p<0.05). We observed a significant increase (p<0.0001) in the Vv of collagen in the bladders of anencephalic fetuses (69.71%) when compared to normal fetuses (52.74%), and a significant decrease (p<0.0001) in the Vv of smooth muscle cells in the bladders of anencephalic fetuses (23.96%) when compared to normal fetuses (38.35%). The biochemical analyses showed a higher concentration of total collagen in the bladders of anencephalic fetuses (37354 µg/mg) when compared to normal fetuses (48117 µg/mg, p<0.02). The structural alterations of the bladder found in this study may suggest the existence of functional alterations in the bladder of anencephalic human fetuses.

  4. Calcium phosphate cement as a "barrier-graft" for the treatment of human periodontal intraosseous defects

    Directory of Open Access Journals (Sweden)

    Rajesh J

    2009-01-01

    Full Text Available Background : Calcium phosphate cements (CPC are apparently good candidates for periodontal treatment by virtue of their biocompatibility, mouldability and osteoconductivity. However, the clinical efficacy in this regard has not been established. This study is aimed at the evaluation of the efficacy of a formulation of CPC in healing human periodontal intraosseous defects in comparison with hydroxyapatite ceramic granules. Materials and Methods : In this clinical study, 60 patients with periodontal defects were divided into 2 test groups and 1 control group. The defect sites in the test groups were repaired with CPC and hydroxyapatite ceramic granules (HAG. Debridement alone was given in the control group. The progress was assessed at 3, 6, 9 and 12 months observation intervals through soft tissue parameters (probing depth, attachment level and gingival recession. Results: CPC showed significantly better outcome. Probing depth reduction values of CPC, HAG and Control at 6 months were 5.40 ± 1.43, 3.75 ± 1.71 and 2.90 ± 1.48, and those at 12 months were 6.20 ± 1.80, 4.5 ± 1.91 and 2.95 ± 1.73. Clinical attachment gain values of CPC, HAG and Control at 6 months were 5.15 ± 1.50, 3.45 ± 1.96 and 2.25 ± 1.52, and those at 12 months were 5.80 ± 2.02, 3.55 ± 2.06 and 2.30 ± 1.78, In both cases the P value was < 0.001 showing high significance. The gingival recession over 12 months, for the CPC group is lesser than that in the HAG group and the value for the control group is marginally higher than both. Soft-tissue measurements were appended by postoperative radiographs and surgical re-entry in selected cases. Conclusions: Calcium phosphate cement is found to be significantly better than hydroxyapatite ceramic granules. The material could be considered as a "barrier-graft".

  5. Human Neutrophils Use Different Mechanisms To Kill Aspergillus fumigatus Conidia and Hyphae: Evidence from Phagocyte Defects.

    Science.gov (United States)

    Gazendam, Roel P; van Hamme, John L; Tool, Anton T J; Hoogenboezem, Mark; van den Berg, J Merlijn; Prins, Jan M; Vitkov, Ljubomir; van de Veerdonk, Frank L; van den Berg, Timo K; Roos, Dirk; Kuijpers, Taco W

    2016-02-01

    Neutrophils are known to play a pivotal role in the host defense against Aspergillus infections. This is illustrated by the prevalence of Aspergillus infections in patients with neutropenia or phagocyte functional defects, such as chronic granulomatous disease. However, the mechanisms by which human neutrophils recognize and kill Aspergillus are poorly understood. In this work, we have studied in detail which neutrophil functions, including neutrophil extracellular trap (NET) formation, are involved in the killing of Aspergillus fumigatus conidia and hyphae, using neutrophils from patients with well-defined genetic immunodeficiencies. Recognition of conidia involves integrin CD11b/CD18 (and not dectin-1), which triggers a PI3K-dependent nonoxidative intracellular mechanism of killing. When the conidia escape from early killing and germinate, the extracellular destruction of the Aspergillus hyphae needs opsonization by Abs and involves predominantly recognition via Fcγ receptors, signaling via Syk, PI3K, and protein kinase C to trigger the production of toxic reactive oxygen metabolites by the NADPH oxidase and myeloperoxidase. A. fumigatus induces NET formation; however, NETs did not contribute to A. fumigatus killing. Thus, our findings reveal distinct killing mechanisms of Aspergillus conidia and hyphae by human neutrophils, leading to a comprehensive insight in the innate antifungal response. Copyright © 2016 by The American Association of Immunologists, Inc.

  6. A Melodic Contour Repeatedly Experienced by Human Near-Term Fetuses Elicits a Profound Cardiac Reaction One Month after Birth

    OpenAIRE

    Granier-Deferre, Carolyn; Bassereau, Sophie; Ribeiro, Aurélie; Jacquet, Anne-Yvonne; DeCasper, Anthony J.

    2011-01-01

    Background Human hearing develops progressively during the last trimester of gestation. Near-term fetuses can discriminate acoustic features, such as frequencies and spectra, and process complex auditory streams. Fetal and neonatal studies show that they can remember frequently recurring sounds. However, existing data can only show retention intervals up to several days after birth. Methodology/Principal Findings Here we show that auditory memories can last at least six weeks. Experimental fe...

  7. The association between the fraternal birth order effect in male homosexuality and other markers of human sexual orientation

    OpenAIRE

    Rahman, Qazi

    2005-01-01

    Later fraternal birth order (FBO) is a well-established correlate of homosexuality in human males and may implicate a maternal immunization response in the feminization of male sexuality. This has led to the suggestion that FBO may relate to other markers of male sexual orientation which are robustly sexually dimorphic. If so, among homosexual males the number of older brothers should strongly correlate with traits such as spatial ability and psychological gender, indicative of greater behavi...

  8. External fixation of femoral defects in athymic rats: Applications for human stem cell implantation and bone regeneration

    Directory of Open Access Journals (Sweden)

    Terasa Foo

    2013-01-01

    Full Text Available An appropriate animal model is critical for the research of stem/progenitor cell therapy and tissue engineering for bone regeneration in vivo. This study reports the design of an external fixator and its application to critical-sized femoral defects in athymic rats. The external fixator consists of clamps and screws that are readily available from hardware stores as well as Kirschner wires. A total of 35 rats underwent application of the external fixator with creation of a 6-mm bone defect in one femur of each animal. This model had been used in several separate studies, including implantation of collagen gel, umbilical cord blood mesenchymal stem cells, endothelial progenitor cells, or bone morphogenetic protein-2. One rat developed fracture at the proximal pin site and two rats developed deep tissue infection. Pin loosening was found in nine rats, but it only led to the failure of external fixation in two animals. In 8 to 10 weeks, various degrees of bone growth in the femoral defects were observed in different study groups, from full repair of the bone defect with bone morphogenetic protein-2 implantation to fibrous nonunion with collagen gel implantation. The external fixator used in these studies provided sufficient mechanical stability to the bone defects and had a comparable complication rate in athymic rats as in immunocompetent rats. The external fixator does not interfere with the natural environment of a bone defect. This model is particularly valuable for investigation of osteogenesis of human stem/progenitor cells in vivo.

  9. Human neonatal rotavirus vaccine (RV3-BB) targets rotavirus from birth

    Science.gov (United States)

    Thobari, Jarir At; Satria, Cahya Dewi; Handley, Amanda; Watts, Emma; Cowley, Daniel; Nirwati, Hera; Ackland, James; Standish, Jane; Justice, Frances; Byars, Gabrielle; Lee, Katherine J.; Barnes, Graeme L.; Bachtiar, Novilia S.; Icanervilia, Ajeng Viska; Boniface, Karen; Bogdanovic-Sakran, Nada; Pavlic, Daniel; Bishop, Ruth F.; Kirkwood, Carl D.; Buttery, Jim P.; Soenarto, Yati

    2018-01-01

    Background A birth dose strategy using a neonatal rotavirus vaccine to target early prevention of rotavirus disease may address remaining barriers to global vaccine implementation. Methods We conducted a randomized, placebo-controlled trial in Indonesia to evaluate the efficacy of an oral human neonatal rotavirus vaccine (RV3-BB) to prevent rotavirus gastroenteritis. Healthy newborns received three doses of RV3-BB administered in a neonatal schedule at 0-5 days, 8 and 14 weeks or infant schedule at 8, 14 and 18 weeks, or placebo. Laboratory-confirmed rotavirus gastroenteritis was graded using a modified Vesikari score. The primary analysis was efficacy against severe rotavirus gastroenteritis from two weeks after all doses to 18 months in the combined vaccine group (neonatal and infant schedule) compared with placebo. Results Vaccine efficacy against severe rotavirus gastroenteritis to 18 months was 63% in the combined vaccine group (95% CI 34, 80; p<0.001), 75% in the neonatal vaccine group (95% confidence interval [CI] 44, 91; p<0.001) and 51% in the infant vaccine group (95% CI 7, 76; p=0.03) in the per protocol analysis, with similar results in the intention-to-treat analysis. Vaccine efficacy to 12 months was 94% in the neonatal vaccine group (95%CI 56, 99; p=0.006). Vaccine take occurred in 78/83 (94%) in the neonatal vaccine group and 83/84 (99%) in the infant vaccine group. The vaccine was well tolerated, with similar incidence of adverse events in vaccine and placebo recipients. Conclusion RV3-BB was efficacious, immunogenic and well-tolerated when administered in a neonatal or infant schedule in Indonesia. PMID:29466164

  10. Comparison of naturally occurring and ligature-induced peri-implantitis bone defects in humans and dogs.

    NARCIS (Netherlands)

    Schwarz, F.; Herten, M. van; Sager, M.; Bieling, K.; Sculean, A.; Becker, J.

    2007-01-01

    OBJECTIVES: The aim of the present study was to evaluate and compare naturally occuring and ligature-induced peri-implantitis bone defects in humans and dogs. MATERIAL AND METHODS: Twenty-four partially and fully edentulous patients undergoing peri-implant bone augmentation procedures due to

  11. Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans.

    Directory of Open Access Journals (Sweden)

    Noa Safra

    Full Text Available Neural tube defects (NTDs is a general term for central nervous system malformations secondary to a failure of closure or development of the neural tube. The resulting pathologies may involve the brain, spinal cord and/or vertebral column, in addition to associated structures such as soft tissue or skin. The condition is reported among the more common birth defects in humans, leading to significant infant morbidity and mortality. The etiology remains poorly understood but genetic, nutritional, environmental factors, or a combination of these, are known to play a role in the development of NTDs. The variable conditions associated with NTDs occur naturally in dogs, and have been previously reported in the Weimaraner breed. Taking advantage of the strong linkage-disequilibrium within dog breeds we performed genome-wide association analysis and mapped a genomic region for spinal dysraphism, a presumed NTD, using 4 affected and 96 unaffected Weimaraners. The associated region on canine chromosome 8 (pgenome  =3.0 × 10(-5, after 100,000 permutations, encodes 18 genes, including NKX2-8, a homeobox gene which is expressed in the developing neural tube. Sequencing NKX2-8 in affected Weimaraners revealed a G to AA frameshift mutation within exon 2 of the gene, resulting in a premature stop codon that is predicted to produce a truncated protein. The exons of NKX2-8 were sequenced in human patients with spina bifida and rare variants (rs61755040 and rs10135525 were found to be significantly over-represented (p=0.036. This is the first documentation of a potential role for NKX2-8 in the etiology of NTDs, made possible by investigating the molecular basis of naturally occurring mutations in dogs.

  12. PLANNED HOME BIRTH: A REVIEW

    OpenAIRE

    Tamara Serdinšek; Iztok Takač

    2016-01-01

    Background: Home birth is as old as humanity, but still most middle- and high-income countries consider hospitals as the safest birth settings, as complications regarding birth are highly unpredictable. Despite this there are a few countries in which home birth in integrated into official healthcare system (the Netherlands, United Kingdom, Canada etc.). Home births can be divided into unplanned and planned, and the latter can be further categorized by the presence of the birth attendants. Thi...

  13. Cesarean Birth

    Science.gov (United States)

    ... QUESTIONS LABOR, DELIVERY, AND POSTPARTUM CARE FAQ006 Cesarean Birth (C-section) • What is cesarean birth? • What are the reasons for cesarean birth? • Is a cesarean birth necessary if I have ...

  14. Digital volume tomography in the diagnosis of periodontal defects: an in vitro study on native pig and human mandibles.

    Science.gov (United States)

    Mengel, Reiner; Candir, Muhsin; Shiratori, Kiyoshi; Flores-de-Jacoby, Lavin

    2005-05-01

    The aim of this study of native pig and human mandibles was to investigate the accuracy and quality of the representation of periodontal defects by intraoral radiography (IR), panoramic radiography (PR), computed tomography (CT), and digital volume tomography (DVT) in comparison with histologic specimens. Following the standardized preparation of periodontal defects (14 dehiscences, fenestrations, 2- to 3-walled intrabony defects, respectively; Class I, II, and III furcation involvement) in six pig and seven human mandibles, IR, PR, CT, and DVT were performed. The histologic specimens were produced by cutting blocks with the individual defects out of the mandibles, embedding them in acrylic, and producing sagittal and axial microsections. The intrabony defects were measured using appropriate software on the digitized IR and PR images programs. The histologic sections were measured by reflecting stereomicroscopy. The statistical comparison between the measurements of the radiographic images and those of the histologic specimens was performed with Pearson's correlation coefficient. The quality of the radiographic images was determined through the subjective perception and detectability of the intrabony defects by five independent observers. All intrabony defects could be measured in three planes in the CT and DVT scans. Comparison with the histologic specimens yielded a mean deviation of 0.16 +/- 0.10 mm for the CT scans and 0.19 +/- 0.11 mm for the DVT scans. On the IR and PR images, the defects could be detected only in the mesio-distal and craniocaudal planes. In comparison with the histologic specimens, the IR images revealed a mean deviation of 0.33 +/- 0.18 mm and the PR images a mean deviation of 1.07 +/- 0.62 mm. The quality rating of the radiographic images was highest for the DVT scans. Overall, the CT and DVT scans displayed only a slight deviation in the extent of the periodontal defects in comparison with the histologic specimens. Both radiographic

  15. POSTEROLATERAL DEFECT OF THE NORMAL HUMAN HEART INVESTIGATED WITH NITROGEN-13-AMMONIA AND DYNAMIC PET

    NARCIS (Netherlands)

    DEJONG, RM; BLANKSMA, PK; WILLEMSEN, ATM; ANTHONIO, RL; MEEDER, JG; PRUIM, J; VAALBURG, W; LIE, KI

    The posterolateral defect is a common artifact seen when static N-13-ammonia imaging with PET is used to assess myocardial perfusion. The aim of this study was to compare dynamic and static N-13-ammonia PET and to obtain more insight into the cause of the posterolateral defect. Methods: Dynamic

  16. Sharing the science on human milk feedings with mothers of very-low-birth-weight infants.

    Science.gov (United States)

    Rodriguez, Nancy A; Miracle, Donna J; Meier, Paula P

    2005-01-01

    Mother's milk provides protection from serious and costly morbidity for very-low-birth-weight infants (nosocomial infection, and necrotizing enterocolitis. However, NICU and maternity nurses may be hesitant to encourage mothers to initiate lactation because of a reluctance to make mothers feel guilty or coerced. This article reviews the evidence for the health outcomes of mothers' milk feeding in very-low-birth-weight infants and provides examples of ways to share this science with mothers so that they can make an informed feeding decision.

  17. Defect-mediated relaxation in the random tiling phase of a binary mixture: Birth, death and mobility of an atomic zipper

    Energy Technology Data Exchange (ETDEWEB)

    Tondl, Elisabeth; Ramsay, Malcolm; Harrowell, Peter; Widmer-Cooper, Asaph [School of Chemistry, University of Sydney, Sydney, NSW 2006 (Australia)

    2014-03-14

    This paper describes the mechanism of defect-mediated relaxation in a dodecagonal square-triangle random tiling phase exhibited by a simulated binary mixture of soft discs in 2D. We examine the internal transitions within the elementary mobile defect (christened the “zipper”) that allow it to move, as well as the mechanisms by which the zipper is created and annihilated. The structural relaxation of the random tiling phase is quantified and we show that this relaxation is well described by a model based on the distribution of waiting times for each atom to be visited by the diffusing zipper. This system, representing one of the few instances where a well defined mobile defect is capable of structural relaxation, can provide a valuable test case for general theories of relaxation in complex and disordered materials.

  18. Defect-mediated relaxation in the random tiling phase of a binary mixture: Birth, death and mobility of an atomic zipper

    International Nuclear Information System (INIS)

    Tondl, Elisabeth; Ramsay, Malcolm; Harrowell, Peter; Widmer-Cooper, Asaph

    2014-01-01

    This paper describes the mechanism of defect-mediated relaxation in a dodecagonal square-triangle random tiling phase exhibited by a simulated binary mixture of soft discs in 2D. We examine the internal transitions within the elementary mobile defect (christened the “zipper”) that allow it to move, as well as the mechanisms by which the zipper is created and annihilated. The structural relaxation of the random tiling phase is quantified and we show that this relaxation is well described by a model based on the distribution of waiting times for each atom to be visited by the diffusing zipper. This system, representing one of the few instances where a well defined mobile defect is capable of structural relaxation, can provide a valuable test case for general theories of relaxation in complex and disordered materials

  19. DHX9 suppresses RNA processing defects originating from the Alu invasion of the human genome.

    Science.gov (United States)

    Aktaş, Tuğçe; Avşar Ilık, İbrahim; Maticzka, Daniel; Bhardwaj, Vivek; Pessoa Rodrigues, Cecilia; Mittler, Gerhard; Manke, Thomas; Backofen, Rolf; Akhtar, Asifa

    2017-04-06

    Transposable elements are viewed as 'selfish genetic elements', yet they contribute to gene regulation and genome evolution in diverse ways. More than half of the human genome consists of transposable elements. Alu elements belong to the short interspersed nuclear element (SINE) family of repetitive elements, and with over 1 million insertions they make up more than 10% of the human genome. Despite their abundance and the potential evolutionary advantages they confer, Alu elements can be mutagenic to the host as they can act as splice acceptors, inhibit translation of mRNAs and cause genomic instability. Alu elements are the main targets of the RNA-editing enzyme ADAR and the formation of Alu exons is suppressed by the nuclear ribonucleoprotein HNRNPC, but the broad effect of massive secondary structures formed by inverted-repeat Alu elements on RNA processing in the nucleus remains unknown. Here we show that DHX9, an abundant nuclear RNA helicase, binds specifically to inverted-repeat Alu elements that are transcribed as parts of genes. Loss of DHX9 leads to an increase in the number of circular-RNA-producing genes and amount of circular RNAs, translational repression of reporters containing inverted-repeat Alu elements, and transcriptional rewiring (the creation of mostly nonsensical novel connections between exons) of susceptible loci. Biochemical purifications of DHX9 identify the interferon-inducible isoform of ADAR (p150), but not the constitutively expressed ADAR isoform (p110), as an RNA-independent interaction partner. Co-depletion of ADAR and DHX9 augments the double-stranded RNA accumulation defects, leading to increased circular RNA production, revealing a functional link between these two enzymes. Our work uncovers an evolutionarily conserved function of DHX9. We propose that it acts as a nuclear RNA resolvase that neutralizes the immediate threat posed by transposon insertions and allows these elements to evolve as tools for the post

  20. Human Umbilical Cord MSCs as New Cell Sources for Promoting Periodontal Regeneration in Inflammatory Periodontal Defect.

    Science.gov (United States)

    Shang, Fengqing; Liu, Shiyu; Ming, Leiguo; Tian, Rong; Jin, Fang; Ding, Yin; Zhang, Yongjie; Zhang, Hongmei; Deng, Zhihong; Jin, Yan

    2017-01-01

    Human periodontal ligament stem cells (hPDLSCs) transplantation represents a promising approach for periodontal regeneration; however, the cell source is limited due to the invasive procedure required for cell isolation. As human umbilical cord mesenchymal stem cells (hUCMSCs) can be harvested inexpensively and inexhaustibly, here we evaluated the regenerative potentials of hUCMSCs as compared with hPDLSCs to determine whether hUCMSCs could be used as new cell sources for periodontal regeneration. Methods The characteristics of hUCMSCs, including multi-differentiation ability and anti-inflammatory capability, were determined by comparison with hPDLSCs. We constructed cell aggregates (CA) using hUCMSCs and hPDLSCs respectively. Then hPDLSCs-CA and hUCMSCs-CA were combined with β-tricalcium phosphate bioceramic (β-TCP) respectively and their regenerative potentials were determined in a rat inflammatory periodontal defect model. Results hPDLSCs showed higher osteogenic differentiation potentials than hUCMSCs. Meanwhile, hUCMSCs showed higher extracellular matrix secretion and anti-inflammatory abilities than hPDLSCs. Similar to hPDLSCs, hUCMSCs were able to contribute to regeneration of both soft and hard periodontal tissues under inflammatory periodontitis condition. There were more newly formed bone and periodontal ligaments in hPDLSCs and hUCMSCs groups than in non-cell treated group. Moreover, no significant differences of regenerative promoting effects between hPDLSCs and hUCMSCs were found. Conclusion : hUCMSCs generated similar promoting effects on periodontal regeneration compared with hPDLSCs, and can be used as new cell sources for periodontal regeneration.

  1. [Short, medium and long-term benefits of human milk intake in very-low-birth-weight infants].

    Science.gov (United States)

    Chinea Jiménez, Bibiana; Awad Parada, Yumana; Villarino Marín, Antonio; Sáenz de Pipaón Marcos, Miguel

    2017-10-24

    The aim of the present study is to evaluate the effect of human milk feeding during the first weeks of life in very low birth weight infants on weight gain at discharge, length of hospitalization, postmenstrual age at discharge and nutritional assessment, growth and neurodevelopment at two and five years. Longitudinal study of very-low-birth-weight infants (Care Unit of La Paz University Hospital, from January 1st 2009 to December 31st 2009, followed in the follow-up clinic. Their parents agreed to perform a more exhaustive anthropometric study at five years, classified according to the type of feeding at the time of discharge (exclusive human milk, formula milk or mixed). Initial hospital duration and anthropometry at discharge were evaluated. At two years of age, anthropometric data (weight, height and head circumference) were collected and neurodevelopment was assessed according to the Bayley scale of child development. Data at five years were collected prospectively. Measurements of weight, height and head circumference, waist circumference, hip, relaxed and contracted arm, thigh and middle leg, bicipital, triceps, subscapular, suprailiac and leg skin folds were performed. For patients older than five years, the Kaufman test battery for children was used. The effect of human milk on the variables of interest was investigated using a multivariate analysis correcting for gestational age and weight at birth. One hundred and fifty-two infants born in 2009 were discharged from our unit: exclusive breast milk (59), formula (55) or mixed milk (38). More detailed follow-up was carried out for 61 of them. Human milk during the first admission decreases the initial hospital stay, and is associated with a higher head circumference at two and five years, and a better score in the global and verbal cognitive area at five years. Our results suggest that maternal milk feeding during initial admission should be encouraged because it can improve neurodevelopment at five years

  2. Modulation of mitochondrial morphology by bioenergetics defects in primary human fibroblasts

    DEFF Research Database (Denmark)

    Guillery, O.; Malka, F.; Frachon, P.

    2008-01-01

    induced partial but significant mitochondrial fragmentation, whereas dissipation of mitochondrial membrane potential (D Psi m) provoked complete fragmentation, and glycolysis inhibition had no effect. Oxidative phosphorylation defective fibroblasts had essentially normal filamentous mitochondria under...... basal conditions, although when challenged some of them presented with mild alteration of fission or fusion efficacy. Severely defective cells disclosed complete mitochondrial fragmentation under glycolysis inhibition. In conclusion, mitochondrial morphology is modulated by D Psi m but loosely linked...... to mitochondrial oxidative phosphorylation. Its alteration by glycolysis, inhibition points to a severe oxidative phosphorylation defect. (C) 2008 Elsevier B.V. All rights reserved Udgivelsesdato: 2008/4...

  3. Estudo de prevalência de defeitos congênitos no Vale do Paraíba Paulista Prevalence study of birth defects in Vale do Paraíba, São Paulo, Brazil

    Directory of Open Access Journals (Sweden)

    Cilene Otaviano Pinto

    2007-09-01

    Full Text Available OBJETIVO: Estimar a prevalência de anomalias congênitas no Vale do Paraíba Paulista em 2002 e 2003. MÉTODOS: Estudo transversal com base em dados constantes na Declaração de Nascido Vivo (DNV, cujas informações estavam no portal da Secretaria da Saúde do Estado de São Paulo. As malformações foram descritas de acordo com o capítulo XVII do Código Internacional de Doenças (CID 10, referente a variáveis maternas e do recém-nascido. A variável desfecho (dependente foi a presença de anomalia congênita; as demais informações das mães e do recém-nascido constantes na DNV (variáveis independentes foram analisadas para estimar as associações entre elas e a variável desfecho. Utilizou-se o programa Epi-Info 6.04d para análise estatística e o teste do qui-quadrado, do qui-quadrado de tendência linear e o teste t de Student. RESULTADOS: Foram analisados 41.838 dados com informações constantes nas DNVs, sendo identificados 618 (1,5% sem preenchimento do campo correspondente à anomalia congênita e 317 (0,76% nascidos com anomalia congênita. Houve associação positiva de anomalias congênitas com menor duração da gestação, maior número de filhos mortos, tipo de parto, baixo peso ao nascer e menor escore de Apgar. Os sistemas mais afetados foram o osteomuscular e o nervoso. CONCLUSÕES: A prevalência de malformações foi menor que a encontrada em outros estudos, possivelmente por sub-registro de informação.OBJECTIVE: Estimate the prevalence of birth defects in the Vale do Paraíba Paulista, São Paulo - Brazil, during the years of 2002 and 2003. METHODS: Cross-sectional study based on Birth Certificates available in the São Paulo Health Secretary site. The abnormalities were described according to chapter XVII of the International Classification of Diseases and Related Health Problems (ICD 10 for variables related to mothers and infants born alive at birth. The dependent variable was the presence of abnormalities

  4. Banked preterm versus banked term human milk to promote growth and development in very low birth weight infants.

    LENUS (Irish Health Repository)

    Dempsey, Eugene

    2012-01-31

    BACKGROUND: Human milk banking has been available in many countries for the last three decades. The milk provided from milk banking is predominantly term breast milk, but some milk banks provide preterm breast milk. There are a number of differences between donor term and donor preterm human milk. OBJECTIVES: To determine the effect of banked preterm milk compared with banked term milk regarding growth and developmental outcome in very low birth weight infants (infants weighing less than 1500 g). SEARCH STRATEGY: We used the standard methods of the Cochrane Neonatal Review Group, including a search of the Cochrane Neonatal Group specialized register and the Cochrane Central Register of Controlled Trials (CENTRAL, The Cochrane Library, January 2010). We searched the computerised bibliographic databases MEDLINE (1966 to February 2010), EMBASE (1988 to February 2010) and Web of Science (1975 to February 2010). We searched reference lists of all selected articles, review articles and the Oxford Database of Perinatal Trials. We also searched abstracts from neonatal and pediatric meetings (PAS electronic version from 2000 to 2009, ESPR hand search from 2000 to 2009). We applied no language restrictions. SELECTION CRITERIA: Randomised and quasi-randomised trials comparing banked donor preterm milk with banked donor term milk regarding growth and developmental outcomes in very low birth weight infants DATA COLLECTION AND ANALYSIS: We planned to perform assessment of methodology regarding blinding of randomisation, intervention and outcome measurements as well as completeness of follow-up. We planned to evaluate treatment effect using a fixed-effect model using relative risk (RR), relative risk reduction, risk difference (RD) and number needed to treat (NNT) for categorical data and using mean, standard deviation and weighted mean difference (WMD) for continuous data. We planned an evaluation of heterogeneity. MAIN RESULTS: No studies met the inclusion criteria. AUTHORS

  5. Birth Control

    Science.gov (United States)

    Birth control, also known as contraception, is designed to prevent pregnancy. Birth control methods may work in a number of different ... eggs that could be fertilized. Types include birth control pills, patches, shots, vaginal rings, and emergency contraceptive ...

  6. Human milk oligosaccharide effects on intestinal function and inflammation after preterm birth in pigs

    DEFF Research Database (Denmark)

    Rasmussen, Stine O.; Martin, Lena; Østergaard, Mette V.

    2017-01-01

    (IF) improves intestinal function, bacterial colonization and NEC resistance immediately after preterm birth, as tested in a preterm pig model. Mixtures of HMOs were investigated in intestinal epithelial cells and in preterm pigs (n=112) fed IF supplemented without (CON) or with a mixture of four HMOs...... (4-HMO) or >25 HMOs (25-HMO, 5-10 g/L given for 5 or 11 days). The 25-HMO blend decreased cell proliferation and both HMO blends decreased lipopolysaccharide-induced interleukin-8 secretion in IPEC-J2 cells, relative to control (P

  7. Recombinant human IGF-1 produced by transgenic plant cell suspension culture enhances new bone formation in calvarial defects.

    Science.gov (United States)

    Poudel, Sher Bahadur; Bhattarai, Govinda; Kook, Sung-Ho; Shin, Yun-Ji; Kwon, Tae-Ho; Lee, Seung-Youp; Lee, Jeong-Chae

    2017-10-01

    Transgenic plant cell suspension culture systems have been utilized extensively as convenient and efficient expression systems for the production of recombinant human growth factors. We produced insulin-like growth factor-1 using a plant suspension culture system (p-IGF-1) and explored its effect on new bone formation in calvarial defects. We also compared the bone regenerating potential of p-IGF-1 with commercial IGF-1 derived from Escherichia coli (e-IGF-1). Male C57BL/6 mice underwent calvarial defect surgery, and the defects were loaded with absorbable collagen sponge (ACS) only (ACS group) or ACS impregnated with 13μg of p-IGF-1 (p-IGF-1 group) or e-IGF-1 (e-IGF-1 group). The sham group did not receive any treatment with ACS or IGFs after surgery. Live μCT and histological analyses showed critical-sized bone defects in the sham group, whereas greater bone formation was observed in the p-IGF-1 and e-IGF-1 groups than the ACS group both 5 and 10weeks after surgery. Bone mineral density, bone volume, and bone surface values were also higher in the IGF groups than in the ACS group. Local delivery of p-IGF-1 or e-IGF-1 more greatly enhanced the expression of osteoblast-specific markers, but inhibited osteoclast formation, in newly formed bone compared with ACS control group. Specifically, p-IGF-1 treatment induced higher expression of alkaline phosphatase, osteocalcin, and osteopontin in the defect site than did e-IGF-1. Furthermore, treatment with p-IGF-1, but not e-IGF-1, increased mineralization of MC3T3-E1 cells, with the attendant upregulation of osteogenic marker genes. Collectively, our findings suggest the potential of p-IGF-1 in promoting the processes required for bone regeneration. Copyright © 2017. Published by Elsevier Ltd.

  8. Histological and biochemical evaluation of perichondrial transplants in human articular cartilage defects

    NARCIS (Netherlands)

    Bouwmeester, P; Kuijer, R; Terwindt-Rouwenhorst, E; van der Linden, Ton; Bulstra, K

    1999-01-01

    From 1986 to 1992, 88 patients with articular defects in the knee were treated with a perichondrial arthroplasty. In this study, we report on the results for 22 biopsies of grafted tissue with a mean follow-up of 21 months. Biopsies were obtained at routine arthroscopy after approximately 1 year or

  9. Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder

    Directory of Open Access Journals (Sweden)

    Saenger Paul

    2012-05-01

    Full Text Available Abstract The term small for gestational age (SGA refers to infants whose birth weights and/or lengths are at least two standard deviation (SD units less than the mean for gestational age. This condition affects approximately 3%–10% of newborns. Causes for SGA birth include environmental factors, placental factors such as abnormal uteroplacental blood flow, and inherited genetic mutations. In the past two decades, an enhanced understanding of genetics has identified several potential causes for SGA. These include mutations that affect the growth hormone (GH/insulin-like growth factor (IGF-1 axis, including mutations in the IGF-1 gene and acid-labile subunit (ALS deficiency. In addition, select polymorphisms observed in patients with SGA include those involved in genes associated with obesity, type 2 diabetes, hypertension, ischemic heart disease and deletion of exon 3 growth hormone receptor (d3-GHR polymorphism. Uniparental disomy (UPD and imprinting effects may also underlie some of the phenotypes observed in SGA individuals. The variety of genetic mutations associated with SGA births helps explain the diversity of phenotype characteristics, such as impaired motor or mental development, present in individuals with this disorder. Predicting the effectiveness of recombinant human GH (hGH therapy for each type of mutation remains challenging. Factors affecting response to hGH therapy include the dose and method of hGH administration as well as the age of initiation of hGH therapy. This article reviews the results of these studies and summarizes the success of hGH therapy in treating this difficult and genetically heterogenous disorder.

  10. Human Birth Weight and Reproductive Immunology: Testing for Interactions between Maternal and Offspring KIR and HLA-C Genes.

    Science.gov (United States)

    Clark, Michelle M; Chazara, Olympe; Sobel, Eric M; Gjessing, Håkon K; Magnus, Per; Moffett, Ashley; Sinsheimer, Janet S

    2016-01-01

    Maternal and offspring cell contact at the site of placentation presents a plausible setting for maternal-fetal genotype (MFG) interactions affecting fetal growth. We test hypotheses regarding killer cell immunoglobulin-like receptor (KIR) and HLA-C MFG effects on human birth weight by extending the quantitative MFG (QMFG) test. Until recently, association testing for MFG interactions had limited applications. To improve the ability to test for these interactions, we developed the extended QMFG test, a linear mixed-effect model that can use multi-locus genotype data from families. We demonstrate the extended QMFG test's statistical properties. We also show that if an offspring-only model is fit when MFG effects exist, associations can be missed or misattributed. Furthermore, imprecisely modeling the effects of both KIR and HLA-C could result in a failure to replicate if these loci's allele frequencies differ among populations. To further illustrate the extended QMFG test's advantages, we apply the extended QMFG test to a UK cohort study and the Norwegian Mother and Child Cohort (MoBa) study. We find a significant KIR-HLA-C interaction effect on birth weight. More generally, the QMFG test can detect genetic associations that may be missed by standard genome-wide association studies for quantitative traits. © 2017 S. Karger AG, Basel.

  11. Air quality monitoring and evaluation tools for human health risk reduction in South Africa

    CSIR Research Space (South Africa)

    Wright, C

    2009-10-01

    Full Text Available Air pollution is a serious environmental health threat to humans. Adverse effects range from nausea, difficulty in breathing and skin irritations, to birth defects, immuno-suppression and cancer. Moreover, the severity of health outcomes associated...

  12. Rapid biomimetic mineralization of collagen fibrils and combining with human umbilical cord mesenchymal stem cells for bone defects healing

    Energy Technology Data Exchange (ETDEWEB)

    Ye, Bihua; Luo, Xueshi; Li, Zhiwen [Department of Material Science and Engineering, Engineering Research Center of Artificial Organs and Materials, Jinan University, Guangzhou 510632 (China); Zhuang, Caiping [Department of Anesthesiology, Huizhou Central People' s Hospital, Huizhou 516001 (China); Li, Lihua, E-mail: tlihuali@jnu.edu.cn [Department of Material Science and Engineering, Engineering Research Center of Artificial Organs and Materials, Jinan University, Guangzhou 510632 (China); Lu, Lu; Ding, Shan; Tian, Jinhuan [Department of Material Science and Engineering, Engineering Research Center of Artificial Organs and Materials, Jinan University, Guangzhou 510632 (China); Zhou, Changren, E-mail: tcrz9@jnu.edu.cn [Department of Material Science and Engineering, Engineering Research Center of Artificial Organs and Materials, Jinan University, Guangzhou 510632 (China)

    2016-11-01

    Collagen biomineralization is regulated by complicated interactions between the collagen matrix and non-collagenous extracellular proteins. Here, the use of sodium tripolyphosphate to simulate the templating functional motif of the C-terminal fragment of non-collagenous proteins is reported, and a low molecular weight polyacrylic acid served as a sequestration agent to stabilize amorphous calcium phosphate into nanoprecursors. Self-assembled collagen fibrils served as a fixed template for achieving rapid biomimetic mineralization in vitro. Results demonstrated that, during the mineralization process, intrafibrillar and extrafibrillar hydroxyapatite mineral with collagen fibrils formed and did so via bottom-up nanoparticle assembly based on the non-classical crystallization approach in the presence of these dual biomimetic functional analogues. In vitro human umbilical cord mesenchymal stem cell (hUCMSC) culture found that the mineralized scaffolds have a better cytocompatibility in terms of cell viability, adhesion, proliferation, and differentiation into osteoblasts. A rabbit femoral condyle defect model was established to confirm the ability of the n-HA/collagen scaffolds to facilitate bone regeneration and repair. The images of gross anatomy, MRI, CT and histomorphology taken 6 and 12 weeks after surgery showed that the biomimetic mineralized collagen scaffolds with hUCMSCs can promote the healing speed of bone defects in vivo, and both of the scaffolds groups performing better than the bone defect control group. As new bone tissue formed, the scaffolds degraded and were gradually absorbed. All these results demonstrated that both of the scaffolds and cells have better histocompatibility. - Highlights: • A rapid and facile biomimetic mineralization approach is proposed. • Intrafibrillar and extrafibrillar mineralization of collagen fibrils was achieved. • HA/COL scaffolds promote hUCMSCs adhesion, proliferation, and differentiation. • Feasibility of h

  13. Rapid biomimetic mineralization of collagen fibrils and combining with human umbilical cord mesenchymal stem cells for bone defects healing

    International Nuclear Information System (INIS)

    Ye, Bihua; Luo, Xueshi; Li, Zhiwen; Zhuang, Caiping; Li, Lihua; Lu, Lu; Ding, Shan; Tian, Jinhuan; Zhou, Changren

    2016-01-01

    Collagen biomineralization is regulated by complicated interactions between the collagen matrix and non-collagenous extracellular proteins. Here, the use of sodium tripolyphosphate to simulate the templating functional motif of the C-terminal fragment of non-collagenous proteins is reported, and a low molecular weight polyacrylic acid served as a sequestration agent to stabilize amorphous calcium phosphate into nanoprecursors. Self-assembled collagen fibrils served as a fixed template for achieving rapid biomimetic mineralization in vitro. Results demonstrated that, during the mineralization process, intrafibrillar and extrafibrillar hydroxyapatite mineral with collagen fibrils formed and did so via bottom-up nanoparticle assembly based on the non-classical crystallization approach in the presence of these dual biomimetic functional analogues. In vitro human umbilical cord mesenchymal stem cell (hUCMSC) culture found that the mineralized scaffolds have a better cytocompatibility in terms of cell viability, adhesion, proliferation, and differentiation into osteoblasts. A rabbit femoral condyle defect model was established to confirm the ability of the n-HA/collagen scaffolds to facilitate bone regeneration and repair. The images of gross anatomy, MRI, CT and histomorphology taken 6 and 12 weeks after surgery showed that the biomimetic mineralized collagen scaffolds with hUCMSCs can promote the healing speed of bone defects in vivo, and both of the scaffolds groups performing better than the bone defect control group. As new bone tissue formed, the scaffolds degraded and were gradually absorbed. All these results demonstrated that both of the scaffolds and cells have better histocompatibility. - Highlights: • A rapid and facile biomimetic mineralization approach is proposed. • Intrafibrillar and extrafibrillar mineralization of collagen fibrils was achieved. • HA/COL scaffolds promote hUCMSCs adhesion, proliferation, and differentiation. • Feasibility of h

  14. Birthing Healthy Babies (A Minute of Health with CDC)

    Centers for Disease Control (CDC) Podcasts

    2018-01-11

    Birth defects are common, costly, and critical. If you’re pregnant or planning to get pregnant, you can take steps to improve your chances of giving birth to a healthy child. This podcast discusses ways to prevent birth defects.  Created: 1/11/2018 by MMWR.   Date Released: 1/11/2018.

  15. Maternal Stress, Preterm Birth, and DNA Methylation at Imprint Regulatory Sequences in Humans

    Directory of Open Access Journals (Sweden)

    Adriana C. Vidal

    2014-01-01

    Full Text Available In infants exposed to maternal stress in utero, phenotypic plasticity through epigenetic events may mechanistically explain increased risk of preterm birth (PTB, which confers increased risk for neurodevelopmental disorders, cardiovascular disease, and cancers in adulthood. We examined associations between prenatal maternal stress and PTB, evaluating the role of DNA methylation at imprint regulatory regions. We enrolled women from prenatal clinics in Durham, NC. Stress was measured in 537 women at 12 weeks of gestation using the Perceived Stress Scale. DNA methylation at differentially methylated regions (DMRs associated with H19, IGF2, MEG3, MEST, SGCE/PEG10, PEG3, NNAT , and PLAGL1 was measured from peripheral and cord blood using bisulfite pyrosequencing in a sub-sample of 79 mother–-infant pairs. We examined associations between PTB and stress and evaluated differences in DNA methylation at each DMR by stress. Maternal stress was not associated with PTB (OR = 0.98; 95% CI, 0.40–-2.40; P = 0.96, after adjustment for maternal body mass index (BMI, income, and raised blood pressure. However, elevated stress was associated with higher infant DNA methylation at the MEST DMR (2.8% difference, P < 0.01 after adjusting for PTB. Maternal stress may be associated with epigenetic changes at MEST , a gene relevant to maternal care and obesity. Reduced prenatal stress may support the epigenomic profile of a healthy infant.

  16. Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects.

    Directory of Open Access Journals (Sweden)

    Tiziano Pramparo

    2011-03-01

    Full Text Available Heterozygous LIS1 mutations are the most common cause of human lissencephaly, a human neuronal migration defect, and DCX mutations are the most common cause of X-linked lissencephaly. LIS1 is part of a protein complex including NDEL1 and 14-3-3ε that regulates dynein motor function and microtubule dynamics, while DCX stabilizes microtubules and cooperates with LIS1 during neuronal migration and neurogenesis. Targeted gene mutations of Lis1, Dcx, Ywhae (coding for 14-3-3ε, and Ndel1 lead to neuronal migration defects in mouse and provide models of human lissencephaly, as well as aid the study of related neuro-developmental diseases. Here we investigated the developing brain of these four mutants and wild-type mice using expression microarrays, bioinformatic analyses, and in vivo/in vitro experiments to address whether mutations in different members of the LIS1 neuronal migration complex lead to similar and/or distinct global gene expression alterations. Consistent with the overall successful development of the mutant brains, unsupervised clustering and co-expression analysis suggested that cell cycle and synaptogenesis genes are similarly expressed and co-regulated in WT and mutant brains in a time-dependent fashion. By contrast, focused co-expression analysis in the Lis1 and Ndel1 mutants uncovered substantial differences in the correlation among pathways. Differential expression analysis revealed that cell cycle, cell adhesion, and cytoskeleton organization pathways are commonly altered in all mutants, while synaptogenesis, cell morphology, and inflammation/immune response are specifically altered in one or more mutants. We found several commonly dysregulated genes located within pathogenic deletion/duplication regions, which represent novel candidates of human mental retardation and neurocognitive disabilities. Our analysis suggests that gene expression and pathway analysis in mouse models of a similar disorder or within a common pathway can

  17. Articular cartilage defect detectability in human knees with MR-arthrography

    International Nuclear Information System (INIS)

    Engel, A.; Kramer, J.; Stiglbauer, R.; Hajek, P.C.; Imhof, H.

    1993-01-01

    One hundred and thirteen knee joints were examined, of which 48 showed damage of the hyaline cartilage in one or more locations. For the evaluation of the magnetic resonance (MR) arthrographic images we used the macroscopic staging according to Outerbridge, the defect staging according to Bauer, as well as a new MR-arthrographic staging. The results of the evaluation were compared with the surgical findings in 61 knee joints. This revealed a sensitivity of 86 %, a specificity of 100 % and accuracy of 90 %. All lesions that could not be classified on MR-arthrography were of stage-I chondromalacia. (orig.)

  18. Articular cartilage defect detectability in human knees with MR-arthrography

    Energy Technology Data Exchange (ETDEWEB)

    Engel, A. [Orthopaedic Clinic, Univ. of Vienna (Austria); Kramer, J. [MR-Inst., Univ. of Vienna (Austria); Stiglbauer, R. [MR-Inst., Univ. of Vienna (Austria); Hajek, P.C. [MR-Inst., Univ. of Vienna (Austria); Imhof, H. [MR-Inst., Univ. of Vienna (Austria)

    1993-04-01

    One hundred and thirteen knee joints were examined, of which 48 showed damage of the hyaline cartilage in one or more locations. For the evaluation of the magnetic resonance (MR) arthrographic images we used the macroscopic staging according to Outerbridge, the defect staging according to Bauer, as well as a new MR-arthrographic staging. The results of the evaluation were compared with the surgical findings in 61 knee joints. This revealed a sensitivity of 86 %, a specificity of 100 % and accuracy of 90 %. All lesions that could not be classified on MR-arthrography were of stage-I chondromalacia. (orig.)

  19. Adaptive repair induced by small doses of γ radiation in repair-defective human cells

    International Nuclear Information System (INIS)

    Zasukhina, G.D.; L'vova, G.N.; Vasil'eva, I.M.; Sinel'shchikova, T.A.; Semyachkina, A.N.

    1993-01-01

    Adaptive repair induced by small doses of gamma radiation was studied in repair-defective xeroderma pigmentosum, gout, and homocystinuria cells. The adaptation of cells induced by small doses of radiation was estimated after subsequent exposure to gamma radiation, 4-nitroquinoline-1-oxide, and N-methyl-N-nitro-N-nitrosoguanidine by three methods: (1) by the reduction in DNA breaks; (2) by induction of resistant DNA synthesis; and (3) by increased reactivation of vaccinia virus. The three cell types in response to the three different mutagens revealed differences in the mechanism of cell defense in excision repair, in the adaptive response, and in Weigl reactivation

  20. PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides

    Science.gov (United States)

    Grond, Susanne; Eichmann, Thomas O.; Dubrac, Sandrine; Kolb, Dagmar; Schmuth, Matthias; Fischer, Judith; Crumrine, Debra; Elias, Peter M.; Haemmerle, Guenter; Zechner, Rudolf; Lass, Achim; Radner, Franz P.W.

    2017-01-01

    Mutations in PNPLA1 have been identified as causative for autosomal recessive congenital ichthyosis in humans and dogs. So far, the underlying molecular mechanisms are unknown. In this study, we generated and characterized PNPLA1-deficient mice and found that PNPLA1 is crucial for epidermal sphingolipid synthesis. The absence of functional PNPLA1 in mice impaired the formation of omega-O-acylceramides and led to an accumulation of nonesterified omega-hydroxy-ceramides. As a consequence, PNPLA1-deficient mice lacked a functional corneocyte-bound lipid envelope leading to a severe skin barrier defect and premature death of newborn animals. Functional analyses of differentiated keratinocytes from a patient with mutated PNPLA1 demonstrated an identical defect in omega-O-acylceramide synthesis in human cells, indicating that PNPLA1 function is conserved among mammals and indispensable for normal skin physiology. Notably, topical application of epidermal lipids from wild-type onto Pnpla1-mutant mice promoted rebuilding of the corneocyte-bound lipid envelope, indicating that supplementation of ichthyotic skin with omega-O-acylceramides might be a therapeutic approach for the treatment of skin symptoms in individuals affected by omega-O-acylceramide deficiency. PMID:27751867

  1. Physical inactivity affects skeletal muscle insulin signaling in a birth weight-dependent manner

    DEFF Research Database (Denmark)

    Mortensen, Brynjulf; Friedrichsen, Martin; Andersen, Nicoline Resen

    2014-01-01

    We investigated whether physical inactivity could unmask defects in insulin and AMPK signaling in low birth weight (LBW) subjects.......We investigated whether physical inactivity could unmask defects in insulin and AMPK signaling in low birth weight (LBW) subjects....

  2. A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells.

    Directory of Open Access Journals (Sweden)

    Ioannis Gavvovidis

    Full Text Available Biallelic mutations in MCPH1 cause primary microcephaly (MCPH with the cellular phenotype of defective chromosome condensation. MCPH1 encodes a multifunctional protein that notably is involved in brain development, regulation of chromosome condensation, and DNA damage response. In the present studies, we detected that MCPH1 encodes several distinct transcripts, including two major forms: full-length MCPH1 (MCPH1-FL and a second transcript lacking the six 3' exons (MCPH1Δe9-14. Both variants show comparable tissue-specific expression patterns, demonstrate nuclear localization that is mediated independently via separate NLS motifs, and are more abundant in certain fetal than adult organs. In addition, the expression of either isoform complements the chromosome condensation defect found in genetically MCPH1-deficient or MCPH1 siRNA-depleted cells, demonstrating a redundancy of both MCPH1 isoforms for the regulation of chromosome condensation. Strikingly however, both transcripts are regulated antagonistically during cell-cycle progression and there are functional differences between the isoforms with regard to the DNA damage response; MCPH1-FL localizes to phosphorylated H2AX repair foci following ionizing irradiation, while MCPH1Δe9-14 was evenly distributed in the nucleus. In summary, our results demonstrate here that MCPH1 encodes different isoforms that are differentially regulated at the transcript level and have different functions at the protein level.

  3. "This war for men's minds": the birth of a human science in Cold War America.

    Science.gov (United States)

    Martin-Nielsen, Janet

    2010-01-01

    The past decade has seen an explosion of work on the history of the human sciences during the Cold War. This work, however, does not engage with one of the leading human sciences of the period: linguistics. This article begins to rectify this knowledge gap by investigating the influence of linguistics and its concept of study, language, on American public, political and intellectual life during the postwar and early Cold War years. I show that language emerged in three frameworks in this period: language as tool, language as weapon, and language as knowledge. As America stepped onto the international stage, language and linguistics were at the forefront: the military poured millions of dollars into machine translation, American diplomats were required to master scores of foreign languages, and schoolchildren were exposed to language-learning on a scale never before seen in the United States. Together, I argue, language and linguistics formed a critical part of the rise of American leadership in the new world order - one that provided communities as dispersed as the military, the diplomatic corps, scientists and language teachers with a powerful way of tackling the problems they faced. To date, linguistics has not been integrated into the broader framework of Cold War human sciences. In this article, I aim to bring both language, as concept, and linguistics, as discipline, into this framework. In doing so, I pave the way for future work on the history of linguistics as a human science.

  4. Preterm human milk macronutrient concentration is independent of gestational age at birth.

    Science.gov (United States)

    Maly, Jan; Burianova, Iva; Vitkova, Veronika; Ticha, Eva; Navratilova, Martina; Cermakova, Eva

    2018-01-20

    To evaluate the amount of macronutrients in aggregate of human milk samples after preterm delivery during the first 2 months of lactation. Analysis of the donated single milk samples, gained by complete emptying of the whole breast at the same daytime between 24+0 and 35+6 gestational age (GA), was designed as prospective observational cohort trial. Two milk samples were analysed every postnatal week up to the discharge from the hospital, week 9 or loss of lactation. 24-Hour milk collection was not done. Analysis was performed using the MIRIS Human Milk Analyser (MIRIS AB, Uppsala, Sweden). A set of 1917 human milk samples donated by 225 mothers after preterm labour was analysed. Group A (24-30 GA) contains 969 milk samples; group B (31-35 GA) contains 948 milk samples. No difference in milk composition between the groups was identified. Median of true protein content decreased from 1.6 g/dL in group A and 1.5 g/dL in group B in the first week of life, to 1.1 g/dL in both groups at the end of week 3, and then remained stable up to week 9. Content of carbohydrates and fat was stable during the whole observation, with interindividual differences. Human milk does not differ as a function of degree of prematurity. Protein content of preterm human milk is low and decreases during the first 3 weeks of lactation. Recommended daily protein intake cannot be achieved with routine fortification in majority of milk samples. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  5. Breech birth

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/patientinstructions/000623.htm Breech birth To use the sharing features on this page, ... safer for your baby to pass through the birth canal. In the last weeks of pregnancy, your ...

  6. Human Milk Fortifiers Do Not Meet the Current Recommendation for Nutrients in Very Low Birth Weight Infants.

    Science.gov (United States)

    Koo, Winston; Tice, Hilary

    2017-06-01

    Use of multinutrient fortifiers is standard of care for small preterm infants fed exclusively human milk. However, adequacy of human milk fortifiers (HMFs) to meet the recommended intake for macronutrients and micronutrients is now known. Nutrient content of human milk fortified according to manufacturer's recommendations was compared at isocaloric levels for 1 human milk-based (HMF-A), 2 bovine milk protein-based (HMF-B, HMF-C), and 2 preterm infant formulas (PTF-B, PTF-C). In addition, 4 multivitamin supplements were compared. At 130 kcal/kg, intake of macronutrients was similar to the recommendation, although deficient and excess intake of micronutrient occurred with all fortifiers. Four to 9 micronutrients were absent in HMF or PTF (biotin, choline, inositol, carnitine, taurine, molybdenum, iodine, selenium, or chromium). For the remainder, HMF resulted in deficient intake for 1-13 micronutrients, occurring most frequently with HMF-A. Excess micronutrients (3-15 at <50% and 1-3 at 109%-437%) occurred with all HMF and most frequently with HMF-B and HMF-C. At 150 kcal/kg, deficient intake improved but generally remained below recommendation, while excess intake became exaggerated. PTF and multivitamin formulations do not fully compensate for the deficiencies and can result in extremely high micronutrient intake. At the recommended energy intake for very low birth weight infants, many micronutrients are absent or are present in grossly inadequate amounts, and several micronutrients are in excess. Reformulation of HMF is urgently needed since PTF or multivitamin supplement only partially corrects some deficiencies while providing some nutrients in excess. ( JPEN J Parenter Enteral Nutr. XXXX;xx:xx-xx).

  7. Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

    NARCIS (Netherlands)

    Spielmann, M.; Kakar, N.; Tayebi, N.; Leettola, C.; Nurnberg, G.; Sowada, N.; Lupianez, D.G.; Harabula, I.; Flottmann, R.; Horn, D.; Chan, W.L.; Wittler, L.; Yilmaz, R.; Altmuller, J.; Thiele, H.; Bokhoven, H. van; Schwartz, C.E.; Nurnberg, P.; Bowie, J.U.; Ahmad, J.; Kubisch, C.; Mundlos, S.; Borck, G.

    2016-01-01

    The CRISPR/Cas technology enables targeted genome editing and the rapid generation of transgenic animal models for the study of human genetic disorders. Here we describe an autosomal recessive human disease in two unrelated families characterized by a split-foot defect, nail abnormalities of the

  8. Is Toxoplasma Gondii Infection Related to Brain and Behavior Impairments in Humans? Evidence from a Population-Representative Birth Cohort.

    Directory of Open Access Journals (Sweden)

    Karen Sugden

    Full Text Available Toxoplasma gondii (T. gondii is a protozoan parasite present in around a third of the human population. Infected individuals are commonly asymptomatic, though recent reports have suggested that infection might influence aspects of the host's behavior. In particular, Toxoplasma infection has been linked to schizophrenia, suicide attempt, differences in aspects of personality and poorer neurocognitive performance. However, these studies are often conducted in clinical samples or convenience samples.In a population-representative birth-cohort of individuals tested for presence of antibodies to T. gondii (N = 837 we investigated the association between infection and four facets of human behavior: neuropsychiatric disorder (schizophrenia and major depression, poor impulse control (suicidal behavior and criminality, personality, and neurocognitive performance. Suicide attempt was marginally more frequent among individuals with T. gondii seropositivity (p = .06. Seropositive individuals also performed worse on one out of 14 measures of neuropsychological function.On the whole, there was little evidence that T. gondii was related to increased risk of psychiatric disorder, poor impulse control, personality aberrations or neurocognitive impairment.

  9. Severe Vitamin D Deficiency in Human Immunodeficiency Virus-Infected Pregnant Women is Associated with Preterm Birth.

    Science.gov (United States)

    Jao, Jennifer; Freimanis, Laura; Mussi-Pinhata, Marisa M; Cohen, Rachel A; Monteiro, Jacqueline Pontes; Cruz, Maria Leticia; Branch, Andrea; Sperling, Rhoda S; Siberry, George K

    2017-04-01

    Background  Low maternal vitamin D has been associated with preterm birth (PTB). Human immunodeficiency virus (HIV)-infected pregnant women are at risk for PTB, but data on maternal vitamin D and PTB in this population are scarce. Methods  In a cohort of Latin American HIV-infected pregnant women from the National Institute of Child Health and Human Development International Site Development Initiative protocol, we examined the association between maternal vitamin D status and PTB. Vitamin D status was defined as the following 25-hydroxyvitamin D levels: severe deficiency (PTBs = 36 weeks [interquartile range: 34-36]). In multivariate analysis, severe vitamin D deficiency was associated with PTB (odds ratio = 4.7, 95% confidence interval: 1.3-16.8]). Conclusion  Severe maternal vitamin D deficiency is associated with PTB in HIV-infected Latin American pregnant women. Further studies are warranted to determine if vitamin D supplementation in HIV-infected women may impact PTB. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  10. Dietary Flavonoids as Therapeutics for Preterm Birth: Luteolin and Kaempferol Suppress Inflammation in Human Gestational Tissues In Vitro

    Science.gov (United States)

    Wall, Courtney; Lim, Ratana; Poljak, Marin; Lappas, Martha

    2013-01-01

    Infection/inflammation is commonly associated with preterm birth (PTB), initiating uterine contractions and rupture of fetal membranes. Proinflammatory cytokines induce matrix metalloproteinases (MMPs) that degrade the extracellular matrix (ECM) and prostaglandins which initiate uterine contractions. Nuclear factor-κB (NF-κB) and activator-protein- (AP-)1 have key roles in the formation of these prolabour mediators. In nongestational tissues, dietary flavonoids such as luteolin and kaempferol inhibit NF-κB, AP-1, and their downstream targets. The aim of this study was to determine if luteolin and kaempferol reduce infection-induced prolabour mediators in human gestational tissues. Fetal membranes were incubated with LPS, and primary amnion cells and myometrial cells were incubated with IL-1β in the absence or presence of luteolin or kaempferol. Luteolin and kaempferol significantly reduced LPS-induced secretion of proinflammatory cytokines (IL-6 and IL-8) and prostaglandins (PGE2 and PGF2α) in fetal membranes, IL-1β-induced COX-2 gene expression and prostaglandin production in myometrium, and IL-1β-induced MMP-9 activity in amnion and myometrial cells. Luteolin and kaempferol decreased IL-1β-induced NF-κB p65 DNA binding activity and nuclear c-Jun expression. In conclusion, luteolin and kaempferol inhibit prolabour mediators in human gestational tissues. Given the central role of inflammation in provoking preterm labour, phytophenols may be a therapeutic approach to reduce the incidence of PTB. PMID:23840918

  11. Differences in female and male development of the human cerebral cortex from birth to age 16

    OpenAIRE

    Hanlon, Harriet Wehner

    1994-01-01

    This study compares the development of the human cerebral cortex of 224 girls and 284 boys in a series of cross-sectional analyses as measured by EEG coherence on normal children's brains (longisectional design). Correlations of these EEG readings taken from all brain regions between a mean age of 6 months and 16 years yield measures of synaptic communication. Time series of these measures reflect the changing growth patterns across the 16 years. Time series of mean EE...

  12. Human multipotent mesenchymal stromal cells in the treatment of postoperative temporal bone defect: an animal model

    Czech Academy of Sciences Publication Activity Database

    Školoudík, L.; Chrobok, V.; Kalfert, D.; Kočí, Zuzana; Syková, Eva; Chumak, Tetyana; Popelář, Jiří; Syka, Josef; Laco, J.; Dědková, J.; Dayanithi, Govindan; Filip, S.

    2016-01-01

    Roč. 25, č. 7 (2016), s. 1405-1414 ISSN 0963-6897 R&D Projects: GA MŠk(CZ) LO1309 Institutional support: RVO:68378041 Keywords : Human bone marrow * Human mesenchymal stromal cells (hMSCs) * Middle ear surgery * Temporal bone Subject RIV: FP - Other Medical Disciplines Impact factor: 3.006, year: 2016

  13. Preventing preterm births: trends and potential reductions with current interventionsin 39 very high human development index countries

    Science.gov (United States)

    Chang, Hannah H.; Larson, Jim; Blencowe, Hannah; Spong, Catherine Y.; Howson, Christopher P.; Cairns-Smith, Sarah; Lackritz, Eve M.; Lee, Shoo K.; Mason, Elizabeth; Serazin, Andrew C.; Walani, Salimah; Simpson, Joe Leigh; Lawn, Joy E.

    2013-01-01

    Summary Background Each year,1.1 million babies die from prematurity, andmany survivors are disabled. Worldwide, 15 million babies are preterm(10,000 births, country-by-country analyses were performed based on target population, incremental coverage increase,and intervention efficacy. Cost savings were estimated based on reported costs for preterm care in the USAadjusted usingWorld Bank purchasing power parity. Findings From 2010, even if all VHHDI countries achieved annual preterm birth rate reductions of the best performers, (Sweden and Netherlands), 2000-2010 or 2005-2010(Lithuania, Estonia)), rates would experience a relative reduction of<5% by 2015 on average across the 39 countries.Our analysis of preterm birth rise 1998-2004 in USA suggests half the change is unexplained, but important drivers includeinductions/cesareandelivery and ART.For all 39 VHHDI countries, five interventionsmodeling at high coveragepredicted 5%preterm birth rate relative reduction from 9.59 to 9.07% of live births:smoking cessation (0.01 rate reduction), decreasing multiple embryo transfers during assisted reproductive technologies (0.06), cervical cerclage (0.15), progesterone supplementation (0.01), and reduction of non-medically indicated labour induction or caesarean delivery (0.29).These translate to 58,000 preterm births averted and total annual economic cost savings of ~US$ 3 billion. Interpretation Even with optimal coverage of current interventions, many being complex to implement, the estimated potential reduction in preterm birth is tiny. Hence we recommenda conservative target of 5% preterm birth rate relative reductionby 2015. Our findings highlight the urgent need for discovery research into underlying mechanisms of preterm birth, and developmentof innovative interventions. Furthermore, the highest preterm birth rates occur in low-income settings where the causes of prematurity may differand have simpler solutions, such as birth spacing and treatment of infections in

  14. PLANNED HOME BIRTH: A REVIEW

    Directory of Open Access Journals (Sweden)

    Tamara Serdinšek

    2016-05-01

    Full Text Available Background: Home birth is as old as humanity, but still most middle- and high-income countries consider hospitals as the safest birth settings, as complications regarding birth are highly unpredictable. Despite this there are a few countries in which home birth in integrated into official healthcare system (the Netherlands, United Kingdom, Canada etc.. Home births can be divided into unplanned and planned, and the latter can be further categorized by the presence of the birth attendants. This review focuses on planned home births, which are differently represented throughout the world. In the United States 0.6-1.0% of all children are born at home, in the United Kingdom 2-3%, in Canada 1.6% and in the Netherlands 20-30%. For Slovenia, the number of planned home births is unknown; however, in 2010 0.1% of children were born outside medical facilities.Conclusions: The safety of home birth in still under the debate. While research confirms smaller number of obstetric interventions and some complications in mothers who give birth at home, the data regarding the neonatal and perinatal mortality and morbidity is still conflicting. This confirms the need for large multicentric trials in this field. Current home birth guidelines emphasize that women should be well informed regarding the possible advantages and disadvantages of home births. In addition, the emphasis is on definition of selection criteria for home birth, indications for intrapartal transfer to the hospital and appropriate education of birth attendants. 

  15. International retrospective cohort study of neural tube defects in relation to folic acid recommendations : are the recommendations working?

    NARCIS (Netherlands)

    Botto, LD; Lisi, A; Robert-Gnansia, E; Erickson, JD; Vollset, SE; Mastroiacovo, P; Botting, B; Cocchi, G; de Vigan, C; de Walle, H; Feijoo, M; Irgens, LM; McDonnell, B; Merlob, P; Ritvanen, A; Scarano, G; Siffel, C; Metneki, J; Stoll, C; Smithells, R; Goujard, J

    2005-01-01

    Objective To evaluate the effectiveness of policies and recommendations on folic acid aimed at reducing the occurrence of neural tube defects. Design Retrospective cohort study of births monitored by birth defect registries. Setting 13 birth defects registries monitoring rates of neural tube defects

  16. Positive effect of human milk feeding during NICU hospitalization on 24 month neurodevelopment of very low birth weight infants: an Italian cohort study.

    Directory of Open Access Journals (Sweden)

    Dino Gibertoni

    Full Text Available The aim of this study was to determine the effect of human milk feeding during NICU hospitalization on neurodevelopment at 24 months of corrected age in very low birth weight infants. A cohort of 316 very low birth weight newborns (weight ≤ 1500 g was prospectively enrolled in a follow-up program on admission to the Neonatal Intensive Care Unit of S. Orsola Hospital, Bologna, Italy, from January 2005 to June 2011. Neurodevelopment was evaluated at 24 months corrected age using the Griffiths Mental Development Scale. The effect of human milk nutrition on neurodevelopment was first investigated using a multiple linear regression model, to adjust for the effects of gestational age, small for gestational age, complications at birth and during hospitalization, growth restriction at discharge and socio-economic status. Path analysis was then used to refine the multiple regression model, taking into account the relationships among predictors and their temporal sequence. Human milk feeding during NICU hospitalization and higher socio-economic status were associated with better neurodevelopment at 24 months in both models. In the path analysis model intraventricular hemorrhage-periventricular leukomalacia and growth restriction at discharge proved to be directly and independently associated with poorer neurodevelopment. Gestational age and growth restriction at birth had indirect significant effects on neurodevelopment, which were mediated by complications that occurred at birth and during hospitalization, growth restriction at discharge and type of feeding. In conclusion, our findings suggest that mother's human milk feeding during hospitalization can be encouraged because it may improve neurodevelopment at 24 months corrected age.

  17. Pluripotent cell models of fanconi anemia identify the early pathological defect in human hemoangiogenic progenitors.

    Science.gov (United States)

    Suzuki, Naoya M; Niwa, Akira; Yabe, Miharu; Hira, Asuka; Okada, Chihiro; Amano, Naoki; Watanabe, Akira; Watanabe, Ken-Ichiro; Heike, Toshio; Takata, Minoru; Nakahata, Tatsutoshi; Saito, Megumu K

    2015-04-01

    Fanconi anemia (FA) is a disorder of genomic instability characterized by progressive bone marrow failure (BMF), developmental abnormalities, and an increased susceptibility to cancer. Although various consequences in hematopoietic stem/progenitor cells have been attributed to FA-BMF, the quest to identify the initial pathological event is still ongoing. To address this issue, we established induced pluripotent stem cells (iPSCs) from fibroblasts of six patients with FA and FANCA mutations. An improved reprogramming method yielded iPSC-like colonies from all patients, and iPSC clones were propagated from two patients. Quantitative evaluation of the differentiation ability demonstrated that the differentiation propensity toward the hematopoietic and endothelial lineages is already defective in early hemoangiogenic progenitors. The expression levels of critical transcription factors were significantly downregulated in these progenitors. These data indicate that the hematopoietic consequences in FA patients originate from the early hematopoietic stage and highlight the potential usefulness of iPSC technology for elucidating the pathogenesis of FA-BMF. ©AlphaMed Press.

  18. Widespread epigenetic abnormalities suggest a broad DNA methylation erasure defect in abnormal human sperm.

    Directory of Open Access Journals (Sweden)

    Sahar Houshdaran

    2007-12-01

    Full Text Available Male-factor infertility is a common condition, and etiology is unknown for a high proportion of cases. Abnormal epigenetic programming of the germline is proposed as a possible mechanism compromising spermatogenesis of some men currently diagnosed with idiopathic infertility. During germ cell maturation and gametogenesis, cells of the germ line undergo extensive epigenetic reprogramming. This process involves widespread erasure of somatic-like patterns of DNA methylation followed by establishment of sex-specific patterns by de novo DNA methylation. Incomplete reprogramming of the male germ line could, in theory, result in both altered sperm DNA methylation and compromised spermatogenesis.We determined concentration, motility and morphology of sperm in semen samples collected by male members of couples attending an infertility clinic. Using MethyLight and Illumina assays we measured methylation of DNA isolated from purified sperm from the same samples. Methylation at numerous sequences was elevated in DNA from poor quality sperm.This is the first report of a broad epigenetic defect associated with abnormal semen parameters. Our results suggest that the underlying mechanism for these epigenetic changes may be improper erasure of DNA methylation during epigenetic reprogramming of the male germ line.

  19. The Ptch1DL mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome associated skeletal defects

    OpenAIRE

    Feng, Weiguo; Choi, Irene; Clouthier, David E.; Niswander, Lee; Williams, Trevor

    2013-01-01

    Mouse models provide valuable opportunities for probing the underlying pathology of human birth defects. Employing an ENU-based screen for recessive mutations affecting craniofacial anatomy we isolated a mouse strain, Dogface-like (DL), with abnormal skull and snout morphology. Examination of the skull indicated that these mice developed craniosynostosis of the lambdoid suture. Further analysis revealed skeletal defects related to the pathology of basal cell nevus syndrome (BCNS) including de...

  20. Adeno-associated virus Rep-mediated targeting of integrase-defective retroviral vector DNA circles into human chromosome 19

    International Nuclear Information System (INIS)

    Huang, Shuohao; Kawabe, Yoshinori; Ito, Akira; Kamihira, Masamichi

    2012-01-01

    Highlights: ► Adeno-associated virus (AAV) is capable of targeted integration in human cells. ► Integrase-defective retroviral vector (IDRV) enables a circular DNA delivery. ► A targeted integration system of IDRV DNA using the AAV integration mechanism. ► Targeted IDRV integration ameliorates the safety concerns for retroviral vectors. -- Abstract: Retroviral vectors have been employed in clinical trials for gene therapy owing to their relative large packaging capacity, alterable cell tropism, and chromosomal integration for stable transgene expression. However, uncontrollable integrations of transgenes are likely to cause safety issues, such as insertional mutagenesis. A targeted transgene integration system for retroviral vectors, therefore, is a straightforward way to address the insertional mutagenesis issue. Adeno-associated virus (AAV) is the only known virus capable of targeted integration in human cells. In the presence of AAV Rep proteins, plasmids possessing the p5 integration efficiency element (p5IEE) can be integrated into the AAV integration site (AAVS1) in the human genome. In this report, we describe a system that can target the circular DNA derived from non-integrating retroviral vectors to the AAVS1 site by utilizing the Rep/p5IEE integration mechanism. Our results showed that after G418 selection 30% of collected clones had retroviral DNA targeted at the AAVS1 site.

  1. When Your Baby Has a Birth Defect

    Science.gov (United States)

    ... Genetic Testing Common Diagnoses in the NICU Gene Therapy and Children Down Syndrome Cerebral Palsy Spina Bifida Prenatal Genetic Counseling What Is a Gene? Cleft Lip and Cleft Palate Down Syndrome The Basics on Genes and Genetic ... only. For specific medical advice, diagnoses, and treatment, consult your doctor. © 1995- The Nemours Foundation. All ...

  2. March of Dimes Birth Defects Foundation

    Science.gov (United States)

    ... Join us on Facebook Follow us on Twitter Instagram: behind the scenes Our research Research grants Prematurity ... Join us on Facebook Follow us on Twitter Instagram: behind the scenes Research & Professionals Our research Research ...

  3. What Are the Types of Birth Defects?

    Science.gov (United States)

    ... how eye loss occurs in blind cavefish Podcast: DNA Day: Battling Brittle Bone Disease Media Advisory: NIH researchers find a ... OUTREACH Safe to Sleep® National Child & Maternal Health Education Program RELATED WEBSITES ...

  4. National Birth Defects Prevention Study (NBDPS)

    Science.gov (United States)

    ... of the Aorta D-Transposition of the Great Arteries Hypoplastic Left Heart Syndrome Pulmonary Atresia Tetralogy of ... Privacy FOIA No Fear Act OIG 1600 Clifton Road Atlanta , GA 30329-4027 USA 800-CDC-INFO ( ...

  5. Human mandible bone defect repair by the grafting of dental pulp stem/progenitor cells and collagen sponge biocomplexes

    Directory of Open Access Journals (Sweden)

    R d’Aquino

    2009-11-01

    Full Text Available In this study we used a biocomplex constructed from dental pulp stem/progenitor cells (DPCs and a collagen sponge scaffold for oro-maxillo-facial (OMF bone tissue repair in patients requiring extraction of their third molars. The experiments were carried out according to our Internal Ethical Committee Guidelines and written informed consent was obtained from the patients. The patients presented with bilateral bone reabsorption of the alveolar ridge distal to the second molar secondary to impaction of the third molar on the cortical alveolar lamina, producing a defect without walls, of at least 1.5 cm in height. This clinical condition does not permit spontaneous bone repair after extraction of the third molar, and eventually leads to loss also of the adjacent second molar. Maxillary third molars were extracted first for DPC isolation and expansion. The cells were then seeded onto a collagen sponge scaffold and the obtained biocomplex was used to fill in the injury site left by extraction of the mandibular third molars. Three months after autologous DPC grafting, alveolar bone of patients had optimal vertical repair and complete restoration of periodontal tissue back to the second molars, as assessed by clinical probing and X-rays. Histological observations clearly demonstrated the complete regeneration of bone at the injury site. Optimal bone regeneration was evident one year after grafting. This clinical study demonstrates that a DPC/collagen sponge biocomplex can completely restore human mandible bone defects and indicates that this cell population could be used for the repair and/or regeneration of tissues and organs.

  6. INCREASED MATERNAL SERUM ALPHA-FETOPROTEIN AND HUMAN CHORIONIC-GONADOTROPIN IN COMPROMISED PREGNANCIES OTHER THAN FOR NEURAL-TUBE DEFECTS OR DOWN-SYNDROME

    NARCIS (Netherlands)

    BEEKHUIS, [No Value; VANLITH, JMM; DEWOLF, BTHM; MANTINGH, A

    Intrauterine fetal death occurred in four women who were 'screen-positive' in a screening programme for neural tube defects (NTDs) and Down syndrome (DS). These women had very high levels of maternal serum alpha-fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG). Therefore,

  7. A melodic contour repeatedly experienced by human near-term fetuses elicits a profound cardiac reaction one month after birth.

    Science.gov (United States)

    Granier-Deferre, Carolyn; Bassereau, Sophie; Ribeiro, Aurélie; Jacquet, Anne-Yvonne; Decasper, Anthony J

    2011-02-23

    Human hearing develops progressively during the last trimester of gestation. Near-term fetuses can discriminate acoustic features, such as frequencies and spectra, and process complex auditory streams. Fetal and neonatal studies show that they can remember frequently recurring sounds. However, existing data can only show retention intervals up to several days after birth. Here we show that auditory memories can last at least six weeks. Experimental fetuses were given precisely controlled exposure to a descending piano melody twice daily during the 35(th), 36(th), and 37(th) weeks of gestation. Six weeks later we assessed the cardiac responses of 25 exposed infants and 25 naive control infants, while in quiet sleep, to the descending melody and to an ascending control piano melody. The melodies had precisely inverse contours, but similar spectra, identical duration, tempo and rhythm, thus, almost identical amplitude envelopes. All infants displayed a significant heart rate change. In exposed infants, the descending melody evoked a cardiac deceleration that was twice larger than the decelerations elicited by the ascending melody and by both melodies in control infants. Thus, 3-weeks of prenatal exposure to a specific melodic contour affects infants 'auditory processing' or perception, i.e., impacts the autonomic nervous system at least six weeks later, when infants are 1-month old. Our results extend the retention interval over which a prenatally acquired memory of a specific sound stream can be observed from 3-4 days to six weeks. The long-term memory for the descending melody is interpreted in terms of enduring neurophysiological tuning and its significance for the developmental psychobiology of attention and perception, including early speech perception, is discussed.

  8. A melodic contour repeatedly experienced by human near-term fetuses elicits a profound cardiac reaction one month after birth.

    Directory of Open Access Journals (Sweden)

    Carolyn Granier-Deferre

    2011-02-01

    Full Text Available Human hearing develops progressively during the last trimester of gestation. Near-term fetuses can discriminate acoustic features, such as frequencies and spectra, and process complex auditory streams. Fetal and neonatal studies show that they can remember frequently recurring sounds. However, existing data can only show retention intervals up to several days after birth.Here we show that auditory memories can last at least six weeks. Experimental fetuses were given precisely controlled exposure to a descending piano melody twice daily during the 35(th, 36(th, and 37(th weeks of gestation. Six weeks later we assessed the cardiac responses of 25 exposed infants and 25 naive control infants, while in quiet sleep, to the descending melody and to an ascending control piano melody. The melodies had precisely inverse contours, but similar spectra, identical duration, tempo and rhythm, thus, almost identical amplitude envelopes. All infants displayed a significant heart rate change. In exposed infants, the descending melody evoked a cardiac deceleration that was twice larger than the decelerations elicited by the ascending melody and by both melodies in control infants.Thus, 3-weeks of prenatal exposure to a specific melodic contour affects infants 'auditory processing' or perception, i.e., impacts the autonomic nervous system at least six weeks later, when infants are 1-month old. Our results extend the retention interval over which a prenatally acquired memory of a specific sound stream can be observed from 3-4 days to six weeks. The long-term memory for the descending melody is interpreted in terms of enduring neurophysiological tuning and its significance for the developmental psychobiology of attention and perception, including early speech perception, is discussed.

  9. Birthing Classes

    Science.gov (United States)

    ... management options. Breastfeeding basics. Caring for baby at home. Birthing classes are not just for new parents, though. ... midwife. Postpartum care. Caring for your baby at home, including baby first aid. Lamaze One of the most popular birthing techniques in the U.S., Lamaze has been around ...

  10. Birth Control

    Science.gov (United States)

    ... even if you aren’t going for birth control. What doesn’t work to prevent pregnancy? top It’s ... and taking care of a baby’s many needs. What if I need birth control in an emergency? top Emergency contraception (EC) is ...

  11. [Home births].

    Science.gov (United States)

    Welffens, K; Kirkpatrick, C; Daelemans, C; Derisbourg, S

    In Belgium, very few women give birth outside the delivery room. In the United Kingdom and in the Netherlands, they are more numerous. Several studies evaluated obstetric and neonatal outcomes of home births compared with hospital births. We selected seven recent and large studies (with cohorts of more than 5.000 women) using PubMed, Science Direct and Cochrane Database of Systematic Reviews. Several questions were examined. Is there any difference in maternal and neonatal outcomes depending on the intended place of birth? Does parity affect outcomes ? What are the characteristics of women who choose to deliver at home ? We conclude that giving birth at home improves obstetric outcomes but is riskier for the baby, especially for the first one. The women delivering at home are mainly white Europeans, between 25 and 35 years old, in a relationship, multiparous and wealthier. In order to avoid this increased risk for the baby while preserving the obstetric advantages, alongside birth centers offer an intermediate solution. They combine the reassuring home-like atmosphere with the safety of the hospital. In Belgium, the first alongside birth center " Le Cocon " (a low technicity unit distinct from the delivery room) offers now this type of alternative place of birth for women in Hôpital Erasme in Brussels.

  12. Human natural killer cell maturation defect supports in vivo CD56(bright to CD56(dim lineage development.

    Directory of Open Access Journals (Sweden)

    Carolina Inés Domaica

    Full Text Available Two populations of human natural killer (NK cells can be identified in peripheral blood. The majority are CD3(-CD56(dim cells while the minority exhibits a CD3(-CD56(bright phenotype. In vitro evidence indicates that CD56(bright cells are precursors of CD56(dim cells, but in vivo evidence is lacking. Here, we studied NK cells from a patient that suffered from a melanoma and opportunistic fungal infection during childhood. The patient exhibited a stable phenotype characterized by a reduction in the frequency of peripheral blood CD3(-CD56(dim NK cells, accompanied by an overt increase in the frequency and absolute number of CD3(-CD56(bright cells. These NK cells exhibited similar expression of perforin, CD57 and CD158, the major activating receptors CD16, NKp46, NKG2D, DNAM-1, and 2B4, as well as the inhibitory receptor CD94/NKG2A, on both CD56(bright and CD56(dim NK cells as healthy controls. Also, both NK cell subpopulations produced IFN-γ upon stimulation with cytokines, and CD3(-CD56(dim NK cells degranulated in response to cytokines or K562 cells. However, upon stimulation with cytokines, a substantial fraction of CD56(dim cells failed to up-regulate CD57 and CD158, showed a reduction in the percentage of CD16(+ cells, and CD56(bright cells did not down-regulate CD62L, suggesting that CD56(dim cells could not acquire a terminally differentiated phenotype and that CD56(bright cells exhibit a maturation defect that might result in a potential altered migration pattern. These observations, support the notion that NK cells of this patient display a maturation/activation defect that precludes the generation of mature NK cells at a normal rate accompanied by CD56(dim NK cells that cannot completely acquire a terminally differentiated phenotype. Thus, our results provide evidence that support the concept that in vivo CD56(bright NK cells differentiate into CD56(dim NK cells, and contribute to further understand human NK cell ontogeny.

  13. Genomics of Preterm Birth

    Science.gov (United States)

    Swaggart, Kayleigh A.; Pavlicev, Mihaela; Muglia, Louis J.

    2015-01-01

    The molecular mechanisms controlling human birth timing at term, or resulting in preterm birth, have been the focus of considerable investigation, but limited insights have been gained over the past 50 years. In part, these processes have remained elusive because of divergence in reproductive strategies and physiology shown by model organisms, making extrapolation to humans uncertain. Here, we summarize the evolution of progesterone signaling and variation in pregnancy maintenance and termination. We use this comparative physiology to support the hypothesis that selective pressure on genomic loci involved in the timing of parturition have shaped human birth timing, and that these loci can be identified with comparative genomic strategies. Previous limitations imposed by divergence of mechanisms provide an important new opportunity to elucidate fundamental pathways of parturition control through increasing availability of sequenced genomes and associated reproductive physiology characteristics across diverse organisms. PMID:25646385

  14. Defective recoveryfrom potentially lethal damage in some human fibroblast cell strains

    International Nuclear Information System (INIS)

    Arlett, C.F.; Priestley, A.

    1983-01-01

    The repair of potentially lethal damage following treatment by gamma radiation was investigated in human fibroblasts held in a non-cycling state by maintenance in a medium containing 0.5 per cent foetal calf serum. Variation in their capacity to repair PLD was noted between three normal cell strains. A failure to repair PLD in ataxia-telangiectasia cells (AT5BI) was confirmed. In three cell strains which were intermediate between normals and A-T cells in their sensitivity, XP3BR, 46BR and GB1142, a limited capacity for the repair of PLD was observed. Two other cell strains, 47BR and 67BR, which showed little if any hypersensitivity could be clearly distinguished from normals after a 24 hour period for the repair of PLD. Thus the technique might permit better discrimination between cell strains. One other cell strain, H15617, could be distinguished from normals by proving hypersensitive under all conditions. Here, however, the repair of PLD appeared to be normal. (author)

  15. Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome.

    Science.gov (United States)

    Duquesnoy, P; Sobrier, M L; Amselem, S; Goossens, M

    1991-01-01

    Mutations in the growth hormone receptor (GHR) gene can cause growth hormone (GH) resistance. Given the sequence homology between the extracellular domain of the GHR and a soluble GH-binding protein (GH-BP), it is remarkable that GH-BP binding activity is absent from the serum of patients with Laron-type GH insensitivity, a hereditary form of severe dwarfism. We have previously identified a mutation within the extracellular domain of this receptor, replacing phenylalanine by serine at position 96 of the mature protein, in a patient with Laron syndrome. We have now investigated the effect of this Phe----Ser substitution on hormone binding activity by expressing the total human GHR cDNA and mutant form in eukaryotic cells. The wild-type protein expressed was able to bind GH but no plasma membrane binding was detectable on cells transfected with the mutant cDNA; this was also the case of cells transfected with a Phe96----Ala mutant cDNA, suggesting that the lack of binding activity is not due to a posttranslational modification of serine. Examination of the variant proteins in subcellular fractions revealed the presence of specific GH binding activity in the lysosomal fraction, whereas immunofluorescence studies located mutant proteins in the cytosol. Our findings suggest that these mutant GHRs fail to follow the correct intracellular transport pathway and underline the potential importance of this phenylalanine residue, which is conserved among the GH, prolactin, and erythropoietin receptors that belong to the same cytokine receptor superfamily. Images PMID:1719554

  16. Genetics Home Reference: abdominal wall defect

    Science.gov (United States)

    ... are two main types of abdominal wall defects: omphalocele and gastroschisis . Omphalocele is an opening in the center of the ... covering the exposed organs in gastroschisis. Fetuses with omphalocele may grow slowly before birth (intrauterine growth retardation) ...

  17. Defect modelling

    International Nuclear Information System (INIS)

    Norgett, M.J.

    1980-01-01

    Calculations, drawing principally on developments at AERE Harwell, of the relaxation about lattice defects are reviewed with emphasis on the techniques required for such calculations. The principles of defect modelling are outlined and various programs developed for defect simulations are discussed. Particular calculations for metals, ionic crystals and oxides, are considered. (UK)

  18. Birthing Healthy Babies (A Cup of Health with CDC)

    Centers for Disease Control (CDC) Podcasts

    Every four and a half minutes a baby is born with a birth defect in the United States. That means nearly 120,000 babies, or about three percent of all babies born each year. In this podcast, Dr. Suzanne Gilboa discusses ways to prevent birth defects.

  19. Preterm Birth

    Science.gov (United States)

    ... for Health Care Providers For Health Care Providers: Electronic Nicotine Delivery Systems and Pregnancy CDC Activities Resources ... births and improving neonatal outcomes. View the archived presentation and publication Related Links Is It Worth It? ...

  20. Births and deaths including fetal deaths

    Data.gov (United States)

    U.S. Department of Health & Human Services — Access to a variety of United States birth and death files including fetal deaths: Birth Files, 1968-2009; 1995-2005; Fetal death file, 1982-2005; Mortality files,...

  1. Restoration of a Critical Mandibular Bone Defect Using Human Alveolar Bone-Derived Stem Cells and Porous Nano-HA/Collagen/PLA Scaffold

    Directory of Open Access Journals (Sweden)

    Xing Wang

    2016-01-01

    Full Text Available Periodontal bone defects occur in a wide variety of clinical situations. Adult stem cell- and biomaterial-based bone tissue regeneration are a promising alternative to natural bone grafts. Recent evidence has demonstrated that two populations of adult bone marrow mesenchymal stromal cells (BMSCs can be distinguished based on their embryonic origins. These BMSCs are not interchangeable, as bones preferentially heal using cells that share the same embryonic origin. However, the feasibility of tissue engineering using human craniofacial BMSCs was unclear. The goal of this study was to explore human craniofacial BMSC-based therapy for the treatment of localized mandibular defects using a standardized, minimally invasive procedure. The BMSCs’ identity was confirmed. Scanning electron microscopy, a cell proliferation assay, and supernatant detection indicated that the nHAC/PLA provided a suitable environment for aBMSCs. Real-time PCR and electrochemiluminescence immunoassays demonstrated that osteogenic markers were upregulated by osteogenic preinduction. Moreover, in a rabbit critical-size mandibular bone defect model, total bone formation in the nHAC/PLA + aBMSCs group was significantly higher than in the nHAC/PLA group but significantly lower than in the nHAC/PLA + preinduced aBMSCs. These findings demonstrate that this engineered bone is a valid alternative for the correction of mandibular bone defects.

  2. Restoration of a Critical Mandibular Bone Defect Using Human Alveolar Bone-Derived Stem Cells and Porous Nano-HA/Collagen/PLA Scaffold

    Science.gov (United States)

    Wang, Xing; Xing, Helin; Zhang, Guilan; Wu, Xia; Zou, Xuan; Feng, Lin; Wang, Dongsheng; Li, Meng; Zhao, Jing; Du, Jianwei; Lv, Yan; E, Lingling; Liu, Hongchen

    2016-01-01

    Periodontal bone defects occur in a wide variety of clinical situations. Adult stem cell- and biomaterial-based bone tissue regeneration are a promising alternative to natural bone grafts. Recent evidence has demonstrated that two populations of adult bone marrow mesenchymal stromal cells (BMSCs) can be distinguished based on their embryonic origins. These BMSCs are not interchangeable, as bones preferentially heal using cells that share the same embryonic origin. However, the feasibility of tissue engineering using human craniofacial BMSCs was unclear. The goal of this study was to explore human craniofacial BMSC-based therapy for the treatment of localized mandibular defects using a standardized, minimally invasive procedure. The BMSCs' identity was confirmed. Scanning electron microscopy, a cell proliferation assay, and supernatant detection indicated that the nHAC/PLA provided a suitable environment for aBMSCs. Real-time PCR and electrochemiluminescence immunoassays demonstrated that osteogenic markers were upregulated by osteogenic preinduction. Moreover, in a rabbit critical-size mandibular bone defect model, total bone formation in the nHAC/PLA + aBMSCs group was significantly higher than in the nHAC/PLA group but significantly lower than in the nHAC/PLA + preinduced aBMSCs. These findings demonstrate that this engineered bone is a valid alternative for the correction of mandibular bone defects. PMID:27118977

  3. Density of Stromal Cells and Macrophages Associated With Collagen Remodeling in the Human Cervix in Preterm and Term Birth.

    Science.gov (United States)

    Dubicke, Aurelija; Ekman-Ordeberg, Gunvor; Mazurek, Patricia; Miller, Lindsay; Yellon, Steven M

    2016-05-01

    Remodeling of the cervix occurs in advance of labor both at term and at preterm birth. Morphological characteristics associated with remodeling in rodents were assessed in cervix biopsies from women at term (39 weeks' gestation) and preterm (cervix biopsies from women in labor at term and preterm compared to that in the cervix from nonlaboring women. Extracellular collagen was more degraded in sections of cervix from women at term, based on optical density of picrosirius red stain, versus that in biopsies from nonpregnant women. However, collagen structure was unchanged in the cervix from women at preterm labor versus the nonpregnant group. As an indication of inflammation, cell nuclei density was decreased in cervix biopsies from pregnant women irrespective of labor compared to the nonpregnant group. Moreover, CD68-stained macrophages increased to an equivalent extent in cervix subepithelium and stroma from groups in labor, both at term and preterm, as well as in women not in labor at term. Evidence for a similar inflammatory process in the remodeled cervix of women at term and preterm birth parallels results in rodent models. Thus, a conserved final common mechanism involving macrophages and inflammation may characterize the transition to a ripe cervix before birth at term and in advance of premature birth. © The Author(s) 2015.

  4. High-grade serous carcinomas arise in the mouse oviduct via defects linked to the human disease.

    Science.gov (United States)

    Zhai, Yali; Wu, Rong; Kuick, Rork; Sessine, Michael S; Schulman, Stephanie; Green, Megan; Fearon, Eric R; Cho, Kathleen R

    2017-09-01

    Recent studies have suggested that the most common and lethal type of 'ovarian' cancer, i.e. high-grade serous carcinoma (HGSC), usually arises from epithelium on the fallopian tube fimbriae, and not from the ovarian surface epithelium. We have developed Ovgp1-iCreER T2 mice in which the Ovgp1 promoter controls expression of tamoxifen-regulated Cre recombinase in oviductal epithelium - the murine equivalent of human fallopian tube epithelium (FTE). We employed Ovgp1-iCreER T2 mice to show that FTE-specific inactivation of several different combinations of tumour suppressor genes that are recurrently mutated in human HGSCs - namely Brca1, Trp53, Rb1, and Nf1 - results in serous tubal intraepithelial carcinomas (STICs) that progress to HGSC or carcinosarcoma, and to widespread metastatic disease in a subset of mice. The cancer phenotype is highly penetrant and more rapid in mice carrying engineered alleles of all four tumour suppressor genes. Brca1, Trp53 and Pten inactivation in the oviduct also results in STICs and HGSCs, and is associated with diffuse epithelial hyperplasia and mucinous metaplasia, which are not observed in mice with intact Pten. Oviductal tumours arise earlier in these mice than in those with Brca1, Trp53, Rb1 and Nf1 inactivation. Tumour initiation and/or progression in mice lacking conditional Pten alleles probably require the acquisition of additional defects, a notion supported by our identification of loss of the wild-type Rb1 allele in the tumours of mice carrying only one floxed Rb1 allele. Collectively, the models closely recapitulate the heterogeneity and histological, genetic and biological features of human HGSC. These models should prove useful for studying the pathobiology and genetics of HGSC in vivo, and for testing new approaches for prevention, early detection, and treatment. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2017 Pathological Society of

  5. Disruption of the folate pathway in zebrafish causes developmental defects

    Directory of Open Access Journals (Sweden)

    Lee Marina S

    2012-04-01

    Full Text Available Abstract Background Folic acid supplementation reduces the risk of neural tube defects and congenital heart defects. The biological mechanisms through which folate prevents birth defects are not well understood. We explore the use of zebrafish as a model system to investigate the role of folate metabolism during development. Results We first identified zebrafish orthologs of 12 human folate metabolic genes. RT-PCR and in situ analysis indicated maternal transcripts supply the embryo with mRNA so that the embryo has an intact folate pathway. To perturb folate metabolism we exposed zebrafish embryos to methotrexate (MTX, a potent inhibitor of dihydrofolate reductase (Dhfr an essential enzyme in the folate metabolic pathway. Embryos exposed to high doses of MTX exhibited developmental arrest prior to early segmentation. Lower doses of MTX resulted in embryos with a shortened anterior-posterior axis and cardiac defects: linear heart tubes or incomplete cardiac looping. Inhibition of dhfr mRNA with antisense morpholino oligonucleotides resulted in embryonic lethality. One function of the folate pathway is to provide essential one-carbon units for dTMP synthesis, a rate-limiting step of DNA synthesis. After 24 hours of exposure to high levels of MTX, mutant embryos continue to incorporate the thymidine analog BrdU. However, additional experiments indicate that these embryos have fewer mitotic cells, as assayed with phospho-histone H3 antibodies, and that treated embryos have perturbed cell cycles. Conclusions Our studies demonstrate that human and zebrafish utilize similar one-carbon pathways. Our data indicate that folate metabolism is essential for early zebrafish development. Zebrafish studies of the folate pathway and its deficiencies could provide insight into the underlying etiology of human birth defects and the natural role of folate in development.

  6. Defective repair of UV-damaged DNA in human tumor and SV40-transformed human cells but not in adenovirus-transformed human cells

    International Nuclear Information System (INIS)

    Rainbow, A.J.

    1989-01-01

    The DNA repair capacities of five human tumor cell lines, one SV40-transformed human cell line and one adenovirus-transformed human cell line were compared with that of normal human fibroblasts using a sensitive host cell reactivation (HCR) technique. Unirradiated and UV-irradiated suspensions of adenovirus type 2 (Ad 2) were assayed for their ability to form viral structural antigens (Vag) in the various cell types using immunofluorescent staining. The survival of Vag formation for UV-irradiated Ad 2 was significantly reduced in all the human tumor cell lines and the SV40-transformed human line compared to the normal human fibroblasts, but was apparently normal in the adenovirus-transformed human cells. D 0 values for the UV survival of Ad 2 Vag synthesis in the tumor and virally transformed lines expressed as a percentage of that obtained on normal fibroblast strains were used as a measure of DNA repair capacity. Percent HCR values ranged from 26 to 53% in the tumor cells. These results indicate a deficiency in the repair of UV-induced DNA damage associated with human tumorigenesis and the transformation of human cells by SV40 but not the transformation of human cells by adenovirus. (author)

  7. Cell-extrinsic defective lymphocyte development in Lmna(-/- mice.

    Directory of Open Access Journals (Sweden)

    J Scott Hale

    2010-04-01

    Full Text Available Mutations in the LMNA gene, which encodes all A-type lamins, result in a variety of human diseases termed laminopathies. Lmna(-/- mice appear normal at birth but become runted as early as 2 weeks of age and develop multiple tissue defects that mimic some aspects of human laminopathies. Lmna(-/- mice also display smaller spleens and thymuses. In this study, we investigated whether altered lymphoid organ sizes are correlated with specific defects in lymphocyte development.Lmna(-/- mice displayed severe age-dependent defects in T and B cell development which coincided with runting. Lmna(-/- bone marrow reconstituted normal T and B cell development in irradiated wild-type recipients, driving generation of functional and self-MHC restricted CD4(+ and CD8(+ T cells. Transplantation of Lmna(-/- neonatal thymus lobes into syngeneic wild-type recipients resulted in good engraftment of thymic tissue and normal thymocyte development.Collectively, these data demonstrate that the severe defects in lymphocyte development that characterize Lmna(-/- mice do not result directly from the loss of A-type lamin function in lymphocytes or thymic stroma. Instead, the immune defects in Lmna(-/- mice likely reflect indirect damage, perhaps resulting from prolonged stress due to the striated muscle dystrophies that occur in these mice.

  8. Mutations in the Caenorhabditis elegans orthologs of human genes required for mitochondrial tRNA modification cause similar electron transport chain defects but different nuclear responses.

    Science.gov (United States)

    Navarro-González, Carmen; Moukadiri, Ismaïl; Villarroya, Magda; López-Pascual, Ernesto; Tuck, Simon; Armengod, M-Eugenia

    2017-07-01

    Several oxidative phosphorylation (OXPHOS) diseases are caused by defects in the post-transcriptional modification of mitochondrial tRNAs (mt-tRNAs). Mutations in MTO1 or GTPBP3 impair the modification of the wobble uridine at position 5 of the pyrimidine ring and cause heart failure. Mutations in TRMU affect modification at position 2 and cause liver disease. Presently, the molecular basis of the diseases and why mutations in the different genes lead to such different clinical symptoms is poorly understood. Here we use Caenorhabditis elegans as a model organism to investigate how defects in the TRMU, GTPBP3 and MTO1 orthologues (designated as mttu-1, mtcu-1, and mtcu-2, respectively) exert their effects. We found that whereas the inactivation of each C. elegans gene is associated with a mild OXPHOS dysfunction, mutations in mtcu-1 or mtcu-2 cause changes in the expression of metabolic and mitochondrial stress response genes that are quite different from those caused by mttu-1 mutations. Our data suggest that retrograde signaling promotes defect-specific metabolic reprogramming, which is able to rescue the OXPHOS dysfunction in the single mutants by stimulating the oxidative tricarboxylic acid cycle flux through complex II. This adaptive response, however, appears to be associated with a biological cost since the single mutant worms exhibit thermosensitivity and decreased fertility and, in the case of mttu-1, longer reproductive cycle. Notably, mttu-1 worms also exhibit increased lifespan. We further show that mtcu-1; mttu-1 and mtcu-2; mttu-1 double mutants display severe growth defects and sterility. The animal models presented here support the idea that the pathological states in humans may initially develop not as a direct consequence of a bioenergetic defect, but from the cell's maladaptive response to the hypomodification status of mt-tRNAs. Our work highlights the important association of the defect-specific metabolic rewiring with the pathological phenotype

  9. Reconstruction of rat calvarial defects with human mesenchymal stem cells and osteoblast-like cells in poly-lactic-co-glycolic acid scaffolds

    Directory of Open Access Journals (Sweden)

    C Zong

    2010-09-01

    Full Text Available Human mesenchymal stem cells (hMSCs can be used for xenogenic transplantation due to their low immunogenicity, high proliferation rate, and multi-differentiation potentials. Therefore, hMSCs are an ideal seeding source for tissue engineering. The present study evaluates the reconstruction effects of hMSCs and osteoblast-like cells differentiated from hMSCs in poly-lactic-co-glycolic acid (PLGA scaffolds on the calvarial defect of rats. Two bilateral full-thickness defects (5mm in diameter were created in the calvarium of nonimmunosuppressed Sprague-Dawley rats. The defects were filled by PLGA scaffolds with hMSCs (hMSC Construct or with osteoblast-like cells differentiated from hMSCs (Osteoblast Construct. The defects without any graft (Blank Defect or filled with PLGA scaffold without any cells (Blank Scaffold were used as controls. Evaluation was performed using macroscopic view, histology and immunohistochemical analysis respectively at 10 and 20 weeks after transplantation. In addition, fluorescent carbocyanine CM-Dil was used to track the implanted cells in vivo during transplantation. The results showed that while both hMSC Construct and Osteoblast Construct led to an effective reconstruction of critical-size calvarial defects, the bone reconstruction potential of hMSC Construct was superior to that of Osteoblast Construct in non-autogenous applications. Our findings verify the feasibility of the use of xenogenic MSCs for tissue engineering and demonstrate that undifferentiated hMSCs are more suitable for bone reconstruction in xenotransplantation models.

  10. Iodide-trapping defect of the thyroid

    International Nuclear Information System (INIS)

    Pannall, P.R.; Steyn, A.F.; Van Reenen, O.

    1978-01-01

    We describe a grossly hypothyroid 50-year-old woman, mentally retarded since birth. On the basis of her history of recurrent goitre, absence of 131 I neck uptake and a low saliva/plasma 131 I ratio, congenital hypothyroidism due to a defect of the iodide-trapping mechanism was diagnosed. Other family members studied did not have the defect

  11. Genetic reconstitution of the human Adenovirus type 2 temperature-sensitive 1 mutant defective in endosomal escape

    Directory of Open Access Journals (Sweden)

    Gastaldelli Michele

    2009-10-01

    Full Text Available Abstract Human Adenoviruses infect the upper and lower respiratory tracts, the urinary and digestive tracts, lymphoid systems and heart, and give rise to epidemic conjunctivitis. More than 51 human serotypes have been identified to-date, and classified into 6 species A-F. The species C Adenoviruses Ad2 and Ad5 (Ad2/5 cause upper and lower respiratory disease, but how viral structure relates to the selection of particular infectious uptake pathways is not known. An adenovirus mutant, Ad2-ts1 had been isolated upon chemical mutagenesis in the past, and shown to have unprocessed capsid proteins. Ad2-ts1 fails to package the viral protease L3/p23, and Ad2-ts1 virions do not efficiently escape from endosomes. It had been suggested that the C22187T point mutation leading to the substitution of the conserved proline 137 to leucine (P137L in the L3/p23 protease was at least in part responsible for this phenotype. To clarify if the C22187T mutation is necessary and sufficient for the Ad2-ts1 phenotype, we sequenced the genes encoding the structural proteins of Ad2-ts1, and confirmed that the Ad2-ts1 DNA carries the point mutation C22187T. Introduction of C22187T to the wild-type Ad2 genome in a bacterial artificial chromosome (Ad2-BAC gave Ad2-BAC46 virions with the full Ad2-ts1 phenotype. Reversion of Ad2-BAC46 gave wild-type Ad2 particles indicating that P137L is necessary and sufficient for the Ad2-ts1 phenotype. The kinetics of Ad2-ts1 uptake into cells were comparable to Ad2 suggesting similar endocytic uptake mechanisms. Surprisingly, infectious Ad2 or Ad5 but not Ad2-ts1 uptake required CALM (clathrin assembly lymphoid myeloid protein, which controls clathrin-mediated endocytosis and membrane transport between endosomes and the trans-Golgi-network. The data show that no other mutations than P137L in the viral protease are necessary to give rise to particles that are defective in capsid processing and endosomal escape. This provides a basis for

  12. Precipitous Birth

    Directory of Open Access Journals (Sweden)

    Jennifer Yee

    2017-09-01

    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the management of a precipitous birth in the emergency department (ED. The case is also appropriate for teaching of medical students and advanced practice providers, as well as reviewing the principles of crisis resource management, teamwork, and communication. Introduction: Patients with precipitous birth require providers to manage two patients simultaneously with limited time and resources. Crisis resource management skills will be tested once baby is delivered, and the neonate will require assessment for potential neonatal resuscitation. Objectives: At the conclusion of the simulation session, learners will be able to manage women who have precipitous deliveries, as well as perform neonatal assessment and management. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on precipitous birth management and neonatal evaluation.

  13. Blood flow patterns underlie developmental heart defects.

    Science.gov (United States)

    Midgett, Madeline; Thornburg, Kent; Rugonyi, Sandra

    2017-03-01

    Although cardiac malformations at birth are typically associated with genetic anomalies, blood flow dynamics also play a crucial role in heart formation. However, the relationship between blood flow patterns in the early embryo and later cardiovascular malformation has not been determined. We used the chicken embryo model to quantify the extent to which anomalous blood flow patterns predict cardiac defects that resemble those in humans and found that restricting either the inflow to the heart or the outflow led to reproducible abnormalities with a dose-response type relationship between blood flow stimuli and the expression of cardiac phenotypes. Constricting the outflow tract by 10-35% led predominantly to ventricular septal defects, whereas constricting by 35-60% most often led to double outlet right ventricle. Ligation of the vitelline vein caused mostly pharyngeal arch artery malformations. We show that both cardiac inflow reduction and graded outflow constriction strongly influence the development of specific and persistent abnormal cardiac structure and function. Moreover, the hemodynamic-associated cardiac defects recapitulate those caused by genetic disorders. Thus our data demonstrate the importance of investigating embryonic blood flow conditions to understand the root causes of congenital heart disease as a prerequisite to future prevention and treatment. NEW & NOTEWORTHY Congenital heart defects result from genetic anomalies, teratogen exposure, and altered blood flow during embryonic development. We show here a novel "dose-response" type relationship between the level of blood flow alteration and manifestation of specific cardiac phenotypes. We speculate that abnormal blood flow may frequently underlie congenital heart defects. Copyright © 2017 the American Physiological Society.

  14. Onset of human preterm and term birth is related to unique inflammatory transcriptome profiles at the maternal fetal interface

    Directory of Open Access Journals (Sweden)

    Radek Bukowski

    2017-09-01

    Full Text Available Background Preterm birth is a main determinant of neonatal mortality and morbidity and a major contributor to the overall mortality and burden of disease. However, research of the preterm birth is hindered by the imprecise definition of the clinical phenotype and complexity of the molecular phenotype due to multiple pregnancy tissue types and molecular processes that may contribute to the preterm birth. Here we comprehensively evaluate the mRNA transcriptome that characterizes preterm and term labor in tissues comprising the pregnancy using precisely phenotyped samples. The four complementary phenotypes together provide comprehensive insight into preterm and term parturition. Methods Samples of maternal blood, chorion, amnion, placenta, decidua, fetal blood, and myometrium from the uterine fundus and lower segment (n = 183 were obtained during cesarean delivery from women with four complementary phenotypes: delivering preterm with (PL and without labor (PNL, term with (TL and without labor (TNL. Enrolled were 35 pregnant women with four precisely and prospectively defined phenotypes: PL (n = 8, PNL (n = 10, TL (n = 7 and TNL (n = 10. Gene expression data were analyzed using shrunken centroid analysis to identify a minimal set of genes that uniquely characterizes each of the four phenotypes. Expression profiles of 73 genes and non-coding RNA sequences uniquely identified each of the four phenotypes. The shrunken centroid analysis and 10 times 10-fold cross-validation was also used to minimize false positive finings and overfitting. Identified were the pathways and molecular processes associated with and the cis-regulatory elements in gene’s 5′ promoter or 3′-UTR regions of the set of genes which expression uniquely characterized the four phenotypes. Results The largest differences in gene expression among the four groups occurred at maternal fetal interface in decidua, chorion and amnion. The gene expression profiles showed

  15. Chondrogenic Differentiation of Human Adipose-Derived Stem Cells: A New Path in Articular Cartilage Defect Management?

    Directory of Open Access Journals (Sweden)

    Jan-Philipp Stromps

    2014-01-01

    Full Text Available According to data published by the Centers for Disease Control and Prevention, over 6 million people undergo a variety of medical procedures for the repair of articular cartilage defects in the U.S. each year. Trauma, tumor, and age-related degeneration can cause major defects in articular cartilage, which has a poor intrinsic capacity for healing. Therefore, there is substantial interest in the development of novel cartilage tissue engineering strategies to restore articular cartilage defects to a normal or prediseased state. Special attention has been paid to the expansion of chondrocytes, which produce and maintain the cartilaginous matrix in healthy cartilage. This review summarizes the current efforts to generate chondrocytes from adipose-derived stem cells (ASCs and provides an outlook on promising future strategies.

  16. Recombinant human erythropoietin and blood transfusion in low-birth weight preterm infants under restrictive transfusion guidelines

    International Nuclear Information System (INIS)

    Badiee, Z.; Pourmirzaiee, Mohmmad A.; Naseri, F.; Kelishadi, R.

    2006-01-01

    To compare the number and volume of red blood cell transfusions (RBCTs) in very low birth weight infants under restrictive red blood cell transfusion guidelines with and without erythropoietin administration. In a controlled clinical trial conducted at the neonatal intensive care unit of Alzahra Hospital, Isfahan, Iran, between April 2002 to April 2004, 60 premature infants with gestational age up to 34 weeks, birth weight up to 1500 g, and postnatal age between 8 and 14 days were included. The newborns were randomized into 2 groups: Group 1 received 3 doses of 400 IU/kg erythropoietin per week for 6 weeks, and Group 2 received no treatment aside from their conventional medications. The 2 groups did not differ significantly with respect to their mean gestational age, birth weight and hematocrit at the study entry. Fewer transfusions were administered to those receiving erythropoietin (26.7% versus 50%, p=0.03), but there was no statistically significant difference between groups with respect to volume of transfusion. Compared with the placebo group, the infants receiving erythropoietin had a higher mean hematocrit (34% +/- 4.3 versus 29% +/- 5.9, p<0.001) and absolute reticulocyte count (57 +/- 19 versus 10 +/- 4.8 x 106, p<0.001) at the end of the study. We found no significant difference in the incidence of thrombocytopenia and leukopenia between the 2 groups. We conclude that when the restrictive RBCT guidelines were followed, treatment with erythropoietin can be useful in reduction of the number of RBCTs. (author)

  17. Platelet rich fibrin combined with decalcified freeze-dried bone allograft for the treatment of human intrabony periodontal defects: a randomized split mouth clinical trail.

    Science.gov (United States)

    Agarwal, Ashish; Gupta, Narinder Dev; Jain, Avikal

    2016-01-01

    Polypeptide growth factors of platelet rich fibrin (PRF) have the potential to regenerate periodontal tissues. Osteoinductive property of demineralized freeze-dried bone allograft (DFDBA) has been successfully utilized in periodontal regeneration. The aim of the present randomized, split mouth, clinical trial was to determine the additive effects of PRF with a DFDBA in the treatment of human intrabony periodontal defects. Sixty interproximal infrabony defects in 30 healthy, non-smoker patients diagnosed with chronic periodontitis were randomly assigned to PRF/DFDBA group or the DFDBA/saline. Clinical [pocket depth (PD), clinical attachment level (CAL) and gingival recession (REC)] and radiographic (bone fill, defect resolution and alveolar crest resorption) measurements were made at baseline and at a 12-month evaluation. Compared with baseline, 12-month results indicated that both treatment modalities resulted in significant changes in all clinical and radiographic parameters. However, the PRP/DFDBA group exhibited statistically significantly greater changes compared with the DFDBA/saline group in PD (4.15 ± 0.84 vs 3.60 ± 0.51 mm), CAL (3.73 ± 0.74 vs 2.61 ± 0.68 mm), REC (0.47 ± 0.56 vs 1.00 ± 0.61 mm), bone fill (3.50 ± 0.67 vs 2.49 ± 0.64 mm) and defect resolution (3.73 ± 0.63 vs 2.75 ± 0.57 mm). Observations indicate that a combination of PRF and DFDBA is more effective than DFDBA with saline for the treatment of infrabony periodontal defects.

  18. Ionizing Radiation and Human Gender Proportion at Birth: A Concise Review of the Literature and A Complementary Analysis of Historical and Recent Data

    Directory of Open Access Journals (Sweden)

    Eslami J.

    2017-12-01

    Full Text Available Dear Editor, This letter considers an article by Scherb et al. entitled “Ionizing radiation and the human gender proportion at birth: A concise review of the literature and a complementary analysis of historical and recent data” published in Early Human Development (DOI: http://dx.doi.org/10.1016/j.earlhumdev.2015.10.012 [1]. The authors of this challenging paper have reviewed the literature regarding the effect of exposure to ionizing radiation on gender ratio at birth. Scherb et al. have stated that above-thebackground levels of ionizing radiation may alter the gender ratio at birth: “We are of the strong opinion that gradually increasing the level of background radiation poses an increased genetic risk to humans and creature and that more research should be initiated in this respect. This has implications for the nuclear power industry, and emphasizes the importance of finding safe methods for processing and storing nuclear waste”. They also claimed that the data they presented confirm the existence of an impact of ionizing radiation on human secondary sex. This paper bears a very basic shortcoming. We know that at present, the level of natural background radiation varies on Earth at least two orders of magnitude [2]. Mortazavi et al. have previously published reports on the health effects of exposure to elevated levels of natural ionizing radiation in HBNRAs of Ramsar [2-6]. While radiation level in Ramsar is up to 260 mSv y−1 (the highest background radiation levels known among inhabited areas, up to 13 times higher than the recommended dose limit for radiation workers in Iran that is 20 mSv y−1, people living in high background radiation areas of Ramsar show no observable detrimental effect. It is worth mentioning that if a radiation dose of a few hundred mSv per year has adverse health effects and causes genetic abnormalities or an increased risk of cancer, it should be evident to the residents of these hot areas [6]. Moreover

  19. Transformation and radiosensitivity of human diploid skin fibroblasts transfected with SV40 T-antigen mutants defective in RB and P53 binding domains

    International Nuclear Information System (INIS)

    LingNah Su; Little, J.B.

    1992-01-01

    A series of human diploid fibroblast cell clones were developed by DNA transfection with either wild-type SV40 T-antigen (SV40T) or T-antigen mutants defective in its various functional domains. Cell clones expressing the wild-type SV40 T were significantly radioresistant as compared with clones transfected with the neo gene only (D o 192 ± 13 vs 127 ± 19). This radioresistance persisted in post-crisis, immortalized cell lines. A series of mutants with point or deletion mutations within each functionally active domain of SV40 T were also examined for their ability to alter radiosensitivity and induce morphological transformation. Cell clones transfected with T-antigen mutants defective in nuclear localization or origin binding showed increased radioresistance similar to clones transfected with wild-type T-antigen, and expressed morphological changes characteristic of SV40 T-transfected cells. (author)

  20. The Creation of Human Being and the Birth of Freedom of Thought from Atheist and Theist Perspectives

    Directory of Open Access Journals (Sweden)

    Murat Yılmaz

    2015-12-01

    This study has demonstrated that freedom of thought arises from the creation of human being, and human being must save themselves from the natural, economic, historical and biological conditions in order to maintain their free thoughts.

  1. Post discharge formula fortification of maternal human milk of very low birth weight preterm infants: an introduction of a feeding protocol in a University Hospital

    Directory of Open Access Journals (Sweden)

    Abeer El Sakka

    2016-10-01

    Full Text Available The objective of this study is to determine the growth parameters and nutritional biochemical markers and complications of fortification of human milk by post discharge formula of preterm very low birth weight newborns (VLBW. Fifty preterm infants less than 37 weeks with weight less than 1500 g were enrolled in the study. They received parental nutrition and feeding according to our protocol. When enteral feeding reached 100 cc/kg/day, infants were randomized into two groups: group I, Cases, n=25, where post discharge formula (PDF was used for fortification, group II, Controls, n=25 with no fortification. Infants of both groups were given 50% of required enteral feeding as premature formula. This protocol was used until infants’ weight reached 1800 g. Daily weight, weekly length and head circumference were recorded. Hemoglobin, albumin (Alb, electrolytes, blood urea nitrogen (BUN and clinical complications were documented. Human milk fortification with PDF resulted in better growth with increase in weight 16.8 and 13.78 g/kg/day (P=0.0430, length 0.76 and 0.58 cm/week (P=0.0027, and head circumference of 0.59 and 0.5 cm/week (P=0.0217 in cases and controls respectively. Duration of hospital stay was less in cases (22.76 versus 28.52 days in Controls, P=0.02. No significant changes were found in serum electrolytes, BUN, or Alb between both groups. Hemoglobin was significantly higher in Cases, P=0.04. There were no significant clinical complications. Our feeding protocol of fortification of human milk with PDF in preterm very low birth weight newborns resulted in better growth and decrease in length of hospital stay. The use of PDF could be an alternative option for fortification of mothers’ milk for preterm VLBW infants in developing countries with low resources.

  2. The human sex odds at birth after the atmospheric atomic bomb tests, after Chernobyl, and in the vicinity of nuclear facilities.

    Science.gov (United States)

    Scherb, Hagen; Voigt, Kristina

    2011-06-01

    Ever since the discovery of the mutagenic properties of ionizing radiation, the possibility of birth sex odds shifts in exposed human populations was considered in the scientific community. Positive evidence, however weak, was obtained after the atomic bombing of Japan. We previously investigated trends in the sex odds before and after the Chernobyl Nuclear Power Plant accident. In a pilot study, combined data from the Czech Republic, Denmark, Finland, Germany, Hungary, Norway, Poland, and Sweden between 1982 and 1992 showed a downward trend in the sex odds and a significant jump in 1987, the year immediately after Chernobyl. Moreover, a significant positive association of the sex odds between 1986 and 1991 with Chernobyl fallout at the district level in Germany was observed. Both of these findings, temporality (effect after exposure) and dose response association, yield evidence of causality. The primary aim of this study was to investigate longer time periods (1950-2007) in all of Europe and in the USA with emphasis on the global atmospheric atomic bomb test fallout and on the Chernobyl accident. To obtain further evidence, we also analyze sex odds data near nuclear facilities in Germany and Switzerland. DATA AND STATISTICAL METHODS: National gender-specific annual live births data for 39 European countries from 1975 to 2007 were compiled using the pertinent internet data bases provided by the World Health Organization, United Nations, Council of Europe, and EUROSTAT. For a synoptic re-analysis of the period 1950 to 1990, published data from the USA and from a predominantly western and less Chernobyl-exposed part of Europe were studied additionally. To assess spatial, temporal, as well as spatial-temporal trends in the sex odds and to investigate possible changes in those trends after the atomic bomb tests, after Chernobyl, and in the vicinity of nuclear facilities, we applied ordinary linear logistic regression. Region-specific and eventually changing spatial

  3. Higher O-GlcNAc Levels Are Associated with Defects in Progenitor Proliferation and Premature Neuronal Differentiation during in-Vitro Human Embryonic Cortical Neurogenesis

    Directory of Open Access Journals (Sweden)

    Shama Parween

    2017-12-01

    Full Text Available The nutrient responsive O-GlcNAcylation is a dynamic post-translational protein modification found on several nucleocytoplasmic proteins. Previous studies have suggested that hyperglycemia induces the levels of total O-GlcNAcylation inside the cells. Hyperglycemia mediated increase in protein O-GlcNAcylation has been shown to be responsible for various pathologies including insulin resistance and Alzheimer's disease. Since maternal hyperglycemia during pregnancy is associated with adverse neurodevelopmental outcomes in the offspring, it is intriguing to identify the effect of increased protein O-GlcNAcylation on embryonic neurogenesis. Herein using human embryonic stem cells (hESCs as model, we show that increased levels of total O-GlcNAc is associated with decreased neural progenitor proliferation and premature differentiation of cortical neurons, reduced AKT phosphorylation, increased apoptosis and defects in the expression of various regulators of embryonic corticogenesis. As defects in proliferation and differentiation during neurodevelopment are common features of various neurodevelopmental disorders, increased O-GlcNAcylation could be one mechanism responsible for defective neurodevelopmental outcomes in metabolically compromised pregnancies such as diabetes.

  4. Synergistic effects of dimethyloxallyl glycine and recombinant human bone morphogenetic protein-2 on repair of critical-sized bone defects in rats

    Science.gov (United States)

    Qi, Xin; Liu, Yang; Ding, Zhen-Yu; Cao, Jia-Qing; Huang, Jing-Huan; Zhang, Jie-Yuan; Jia, Wei-Tao; Wang, Jing; Liu, Chang-Sheng; Li, Xiao-Lin

    2017-02-01

    In bone remodeling, osteogenesis is closely coupled to angiogenesis. Bone tissue engineering using multifunctional bioactive materials is a promising technique which has the ability to simultaneously stimulate osteogenesis and angiogenesis for repair of bone defects. We developed mesoporous bioactive glass (MBG)-doped poly(3-hydroxybutyrate-co-3-hydroxyhexanoate) (PHBHHx) composite scaffolds as delivery vehicle. Two bioactive molecules, dimethyloxalylglycine (DMOG), a small-molecule angiogenic drug, and recombinant human bone morphogenetic protein-2 (rhBMP-2), an osteoinductive growth factor, were co-incorporated into the scaffold. The synergistic effects of DMOG and rhBMP-2 released in the composite scaffolds on osteogenic and angiogenic differentiation of hBMSCs were investigated using real-time quantitative polymerase chain reaction and western blotting. Moreover, in vivo studies were conducted to observe bone regeneration and vascular formation of critical-sized bone defects in rats using micro-computed tomography, histological analyses, Microfil® perfusion, fluorescence labeling, and immunohistochemical analysis. The results showed that DMOG and rhBMP-2 released in the MBG-PHBHHx scaffolds did exert synergistic effects on the osteogenic and angiogenic differentiation of hBMSCs. Moreover, DMOG and rhBMP-2 produced significant increases in newly-formed bone and neovascularization of calvarial bone defects in rats. It is concluded that the co-delivery strategy of both rhBMP-2 and DMOG can significantly improve the critical-sized bone regeneration.

  5. Defects and defect processes in nonmetallic solids

    CERN Document Server

    Hayes, W

    2004-01-01

    This extensive survey covers defects in nonmetals, emphasizing point defects and point-defect processes. It encompasses electronic, vibrational, and optical properties of defective solids, plus dislocations and grain boundaries. 1985 edition.

  6. An ultrastructural and immunocytochemical study of a rare genetic sperm tail defect that causes infertility in humans.

    Science.gov (United States)

    Baccetti, Baccio; Bruni, Emanuele; Gambera, Laura; Moretti, Elena; Piomboni, Paola

    2004-08-01

    To characterize and describe the ontogenesis of a rare flagellar defect affecting the whole sperm population of a sterile man. Case report. Regional referral center for male infertility in Siena, Italy. A 28-year-old man with severe asthenozoospermia. Physical and hormonal assays, semen analysis, and testicular biopsy. Semen samples and testicular biopsies were analyzed by light and transmission electron microscopy; immunocytochemical study with anti-beta-tubulin and anti-AKAP 82 antibodies was performed to detect the presence and distribution of proteins. Ultrastructural analysis of ejaculated spermatozoa and testicular biopsy revealed absence of the fibrous sheath in the principal-piece region of the tail. Fibrous sheath-like structures were observed in cytoplasmic residues and residual bodies released by spermatids in the seminiferous epithelium. Other anomalies observed were supplementary axonemes and mitochondrial helix elongation. These features were confirmed by immunocytochemical staining. This rare sperm tail defect, characterized by absence of the fibrous sheath, presence of supplementary axonemes, and an abnormally elongated midpiece, originates in the seminiferous tubules during spermiogenesis, as detected in testicular biopsy sections. These defects occur in the whole sperm population, and therefore a genetic origin could be suggested.

  7. Age-associated DNA methylation changes in immune genes, histone modifiers and chromatin remodeling factors within 5 years after birth in human blood leukocytes

    DEFF Research Database (Denmark)

    Acevedo, Nathalie; Reinius, Lovisa E; Vitezic, Morana

    2015-01-01

    BACKGROUND: Age-related changes in DNA methylation occurring in blood leukocytes during early childhood may reflect epigenetic maturation. We hypothesized that some of these changes involve gene networks of critical relevance in leukocyte biology and conducted a prospective study to elucidate...... factors (for example, HDAC4, KDM2A, KDM2B, JARID2, ARID3A, and SMARCD3) undergo DNA methylation changes in leukocytes during early childhood. These results open new perspectives to understand leukocyte maturation and provide a catalogue of CpG sites that may need to be corrected for age effects when...... the dynamics of DNA methylation. Serial blood samples were collected at 3, 6, 12, 24, 36, 48 and 60 months after birth in ten healthy girls born in Finland and participating in the Type 1 Diabetes Prediction and Prevention Study. DNA methylation was measured using the HumanMethylation450 BeadChip. RESULTS...

  8. Polymorphic human (CTAT)n microsatellite provides a conserved linkage marker for mouse mutants causing cleft palate, vestibular defects, obesity and ataxia

    Energy Technology Data Exchange (ETDEWEB)

    Griffith, A.J.; Burgess, D.L.; Kohrman, D. [Univ. of MIchigan, Ann Arbor, MI (United States)] [and others

    1994-09-01

    The Twirler mutation (Tw) causing cleft palate {plus_minus} cleft lip, vestibular defects and obesity is located within 0.5 cM of an ataxia locus (ax) on mouse chromosome 18. We identified a transgene-induced insertional mutation with vestibular and craniofacial defects that appears to be a new allele of Twirler. Mouse DNA flanking the transgene insertion site was isolated from a cosmid library. An evolutionarily conserved, zoo blot positive cosmid subclone was used to probe a human {lambda} genomic library. From the sequence of a highly homologous human {lambda} clone, we designed STS primers and screened a human P1 library. DNA from two positive P1 clones was hybridized with simple sequence probes, and a (CTAT){sub 12} repeat was detected. Analysis of 62 CEPH parents with primers flanking the repeat identified six alleles containing 9 to 14 copies of the repeat, at frequencies of 0.17, 0.17, 0.17, 0.27, 0.15 and 0.07, respectively. The observed heterozygosity was 49/62 with a calculated PIC value of 0.76. This polymorphic microsatellite marker, designated Umi3, was mapped to the predicted conserved human linkage group by analysis of somatic cell hybrid panels. The anticipated short distance between Umi3 and the disease genes will facilitate detection of linkage in small families. We would like to type appropriate human pedigrees with Umi3 in order to identify patients with inherited disorders homologous to the mouse mutations Twirler and ataxia.

  9. Drugs associated with teratogenic mechanisms. Part II : a literature review of the evidence on human risks

    NARCIS (Netherlands)

    van Gelder, Marleen M. H. J.; de Jong-van den Berg, Lolkje T. W.; Roeleveld, Nel

    What is the current state of knowledge on the human risks of drugs suspected to be associated with teratogenic mechanisms? Evidence for the presence or absence of human risks of birth defects is scarce or non-existent for the majority of drugs associated with teratogenic mechanisms. Medical drugs

  10. Drugs associated with teratogenic mechanisms. Part II: a literature review of the evidence on human risks

    NARCIS (Netherlands)

    Gelder, M.M.H.J. van; Jong-van den Berg, L.T. de; Roeleveld, N.

    2014-01-01

    STUDY QUESTION: What is the current state of knowledge on the human risks of drugs suspected to be associated with teratogenic mechanisms? SUMMARY ANSWER: Evidence for the presence or absence of human risks of birth defects is scarce or non-existent for the majority of drugs associated with

  11. An evaluation of platelet-rich plasma without thrombin activation with or without anorganic bone mineral in the treatment of human periodontal intrabony defects.

    Science.gov (United States)

    Rodrigues, Silvia V; Acharya, Anirudh B; Thakur, Srinath L

    2011-01-01

    The efficacy of platelet-rich plasma (PRP) in periodontal regeneration is not well understood and the definite clinical viability of blood derived platelets lacks clarity. Also, the use of thrombin for platelet activation is disputed. Hence, the purpose of this study was to evaluate the efficacy of blood derived platelets without thrombin activation, alone or in combination with bovine anorganic bone mineral (ABM), in the treatment of human periodontal intrabony defects. PRP was prepared using a simple tabletop centrifuge and activated using calcium chloride without the addition of thrombin. This PRP was used alone (in Group A) and in combination with bovine ABM (in Group B) in the treatment of human periodontal angular defects. Both the control and the test groups showed definite improvement in clinical parameters. On comparison, however, there was a statistically significant improvement in the probing pocket depths and relative attachment level in Group B over Group A at 3 and 6 months intervals, whereas at the end of 9 months this difference was not statistically significant. There was no statistically significant difference between the groups with respect to the relative defect depth. Within the limitations of this study and the type of PRP used, i.e. without thrombin mediated activation, it can be concluded that both PRP and PRP combined with bovine ABM results in significant clinical improvement. Albeit statistically insignificant, there is a preponderance of better clinical results with the addition of ABM to PRP. Further studies need to be carried out on a larger sample size to confirm the results of the present study.

  12. Influence of low-level laser therapy on the healing of human bone maxillofacial defects: A systematic review.

    Science.gov (United States)

    Santinoni, Carolina Dos Santos; Oliveira, Hiskell Francine Fernandes; Batista, Victor Eduardo de Souza; Lemos, Cleidiel Aparecido Araujo; Verri, Fellippo Ramos

    2017-04-01

    This systematic review evaluates the effectiveness of low-level laser therapy (LLLT) to enhance maxillofacial area bone repair. A comprehensive search of studies published up to February 2017 and listed in PubMed/MEDLINE, Scopus, and Cochrane Library databases was performed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. The 15 selected studies evaluated a total of 374 patients (mean age, 28.5years) who were treated with LLLT. Gallium-arsenide (GaAs) and gallium aluminium arsenide (GaAlAs) were the most commonly used devices, and LLLT parameters varied greatly. Wavelengths varied from 500 to 1000nm. Tooth extraction, distraction osteogenesis, maxillary expansion, periodontal defects, orthodontic movement and maxillary cystic defects were evaluated. From the 15 selected studies, six evaluated bone repair (primary outcomes). Of these, four studies showed improvement in bone formation after using LLLT, two demonstrated improved results for only one follow up period, and one showed no additional benefits. The other 9 studies evaluated secondary parameters related to healing (secondary outcomes) in the maxillofacial area after applying LLLT, including anti-inflammatory, analgesic, and healing accelerator effects, and quality of life related to oral health. There were no adverse or negative effects of LLLT reported. Within the limitation of this review, a possible improvement in bone density can be found when LLLT is applied postoperatively in maxillofacial bony defects. LLLT also seems to promote anti-inflammatory and analgesic effects and accelerate healing, as well as enhance quality of life related to oral health. However, LLLT use protocols need to be standardized before more specific conclusions can be drawn about this subject. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Validation of the ovine fetus as an experimental model for the human myelomeningocele defect Validação do feto de ovino como modelo experimental de meningomielocele

    Directory of Open Access Journals (Sweden)

    Denise Araújo Lapa Pedreira

    2007-06-01

    Full Text Available PURPOSE: To produce a myelomeningocele-like human defect in the ovine fetus and validate this experimental model in our population. METHODS: A prospective study on 12 pregnant sheep of a crossed Hampshire/Down breed where a spinal defect was surgically created between Day 75 and Day 77 after conception. The technique consisted of a hysterotomy with exposure of fetal hind limbs and tail up to the mid spine. Fetal skin, paravertebral muscles, and 4 posterior spinal arches were excised, exposing the spinal cord. Duramater was opened and the medulla was incised until the medullar canal. Animals were euthanized at 139 days of gestation for fetal evaluation. The central nervous system was submitted to post-mortem magnetic resonance imaging (MRI and the spine was submitted to pathological examination. RESULTS: The defect was created in 13 fetuses and 5 survived. Mean gestational age at necropsy was 121.6 days (varying from 93 to 145 days. Macroscopically, the defect was present in 4 cases. Microscopy revealed a flattened medulla with disappearance of the medullar canal and disruption of normal medullar architecture with neuronal apoptosis and/or fusion of the piamater and duramater. The MRI showed herniation of the cerebellum into the cervical canal and syringomyelia. CONCLUSIONS: The surgically produced defect mimics the defect found in the human fetus, including the Arnold-Chiari malformation. Post-mortem MRI was used for the first time in our study and proved an excellent alternative for demonstrating the cerebellar herniation. We standardized the technique for creating the defect in our population.OBJETIVO: Produzir um defeito semelhante a meningomielocele humana em feto de ovinos, validando este modelo experimental, em nosso meio. MÉTODOS: Estudo prospectivo com 12 ovelhas de cruzamento das raças Hampshire e Down, onde um defeito na coluna foi criado cirurgicamente com 75 a 77 dias de gestação. A técnica consistiu em histerotomia com exposi

  14. Randomized Controlled Trial on Effect of Intermittent Early Versus Late Kangaroo Mother Care on Human Milk Feeding in Low-Birth-Weight Neonates.

    Science.gov (United States)

    Jayaraman, Dhaarani; Mukhopadhyay, Kanya; Bhalla, Anil Kumar; Dhaliwal, Lakhbir Kaur

    2017-08-01

    Breastfeeding at discharge among sick low-birth-weight (LBW) infants is low despite counseling and intervention like kangaroo mother care (KMC). Research aim: The aim was to study the effects of early initiation of KMC on exclusive human milk feeding, growth, mortality, and morbidities in LBW neonates compared with late initiation of KMC during the hospital stay and postdischarge. A randomized controlled trial was conducted in level 2 and 3 areas of a tertiary care neonatal unit over 15 months. Inborn neonates weighing 1 to 1.8 kg and hemodynamically stable were randomized to receive either early KMC, initiated within the first 4 days of life, or late KMC (off respiratory support and intravenous fluids). Follow-up was until 1 month postdischarge. Outcomes were proportion of infants achieving exclusive human milk feeding and direct breastfeeding, growth, mortality and morbidities during hospital stay, and postdischarge feeding and KMC practices until 1 month. The early KMC group ( n = 80) achieved significantly higher exclusive human milk feeding (86% vs. 45%, p milk feeding (73% vs. 36%, p milk feeding and direct breastfeeding in LBW infants.

  15. Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration

    Directory of Open Access Journals (Sweden)

    Fernando Cristo

    2017-12-01

    Full Text Available A human iPSC line was generated from exfoliated renal epithelial (ERE cells of a patient affected with Congenital Heart Disease (CHD and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro. This iPSC line offers a useful resource to study the molecular mechanisms of cardiomyocyte proliferation, as well as for drug testing.

  16. Catholics vs. Protestants - Birth and Tax

    DEFF Research Database (Denmark)

    Gøtze, Michael

    2008-01-01

    Danish Supreme Court Decision, Protestant State Church, Religious Minority, Birth Registration, Family Law, Taxation System, Discrimination, European Human Rights Law, Constitutional Law, Law and Religion Udgivelsesdato: 28. July......Danish Supreme Court Decision, Protestant State Church, Religious Minority, Birth Registration, Family Law, Taxation System, Discrimination, European Human Rights Law, Constitutional Law, Law and Religion Udgivelsesdato: 28. July...

  17. Preterm birth

    Science.gov (United States)

    2010-01-01

    Introduction Preterm birth occurs in about 5% to 10% of all births in resource-rich countries, but in recent years the incidence seems to have increased in some countries, particularly in the USA. We found little reliable evidence for incidence in resource-poor countries. The rate in northwestern Ethiopia has been reported to vary from 11% to 22%, depending on the age group of mothers studied, and is highest in teenage mothers. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of preventive interventions in women at high risk of preterm delivery? What are the effects of interventions to improve neonatal outcome after preterm rupture of membranes? What are the effects of treatments to stop contractions in preterm labour? What are the effects of elective compared with selective caesarean delivery for women in preterm labour? What are the effects of interventions to improve neonatal outcome in preterm delivery? We searched: Medline, Embase, The Cochrane Library, and other important databases up to June 2009 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 58 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review, we present information relating to the effectiveness and safety of the following interventions: amnioinfusion for preterm rupture of membranes; antenatal corticosteroids; antibiotic treatment; bed rest; beta mimetics; calcium-channel blockers; elective caesarean; enhanced antenatal care programmes; magnesium sulphate; oxytocin receptor antagonists (atosiban); progesterone

  18. Birthing Healthy Babies (A Cup of Health with CDC)

    Centers for Disease Control (CDC) Podcasts

    2018-01-11

    Every four and a half minutes a baby is born with a birth defect in the United States. That means nearly 120,000 babies, or about three percent of all babies born each year. In this podcast, Dr. Suzanne Gilboa discusses ways to prevent birth defects.  Created: 1/11/2018 by MMWR.   Date Released: 1/11/2018.

  19. Periodontal wound healing/regeneration following implantation of recombinant human growth/differentiation factor-5 (rhGDF-5) in an absorbable collagen sponge carrier into one-wall intrabony defects in dogs: a dose-range study.

    Science.gov (United States)

    Kim, Tae-Gyun; Wikesjö, Ulf M E; Cho, Kyoo-Sung; Chai, Jung-Kiu; Pippig, Susanne D; Siedler, Michael; Kim, Chong-Kwan

    2009-07-01

    Recombinant human growth/differentiation factor-5 (rhGDF-5) is being evaluated as a candidate therapy in support of periodontal regeneration. The objective of this study was to evaluate cementum and alveolar bone formation, and aberrant healing events following surgical implantation of rhGDF-5 in an absorbable collagen sponge (ACS) carrier using an established periodontal defect model. Bilateral 4 x 5 mm (width x depth), one-wall, critical-size, intrabony periodontal defects were surgically created at the mandibular second and fourth pre-molar teeth in 15 Beagle dogs. Five animals received 1 microg/defect and five animals 20 microg/defect rhGDF-5 in unilateral defect sites. Contralateral sites received treatments reported elsewhere. Five animals received rhGDF-5/ACS with 0 (buffer control) and 100 microg/defect rhGDF-5 in contralateral defect sites. The animals were euthanized at 8 weeks post-surgery for histologic and histometric evaluation. Surgical implantation of rhGDF-5 stimulated significant periodontal regeneration. Cementum formation was significantly enhanced in sites implanted with rhGDF-5 (1 and 100 microg) compared with control (phealing/regeneration in intrabony periodontal defects without complications.

  20. Clinical and epidemiologic characteristics of human bocavirus in Danish infants: results from a prospective birth cohort study

    DEFF Research Database (Denmark)

    von Linstow, Marie-Louise; Høgh, Mette; Høgh, Birthe

    2008-01-01

    BACKGROUND: Human bocavirus (HBoV) is a recently discovered parvovirus that has been detected in respiratory samples from children with acute respiratory tract infection (ARTI) and in feces from children with gastroenteritis. However, its role as a causative agent of respiratory disease is not de......BACKGROUND: Human bocavirus (HBoV) is a recently discovered parvovirus that has been detected in respiratory samples from children with acute respiratory tract infection (ARTI) and in feces from children with gastroenteritis. However, its role as a causative agent of respiratory disease...

  1. Coming of Age of Human Biology: A Study of the Birth and Growth of a Subject in the School Curriculum.

    Science.gov (United States)

    Denny, M.

    1983-01-01

    Human biology is a school subject whose utilitarian/pedagogical traditions enjoy support at the School Certificate level but whose academic tradition is under threat at the General Certificate of Education level. An interpretation of the issues involved are discussed in terms of the subject's historical background. (JN)

  2. A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation

    International Nuclear Information System (INIS)

    Fujiwara, Y.; Ichihashi, M.; Kano, Y.; Goto, K.; Shimizu, K.

    1981-01-01

    A non-sensitive, 8-yr-old male patient (termed UV81KO) with only acute recurrent sunburns and without any other physical or neuromental retardations was studied. The patient's skin exhibited lowered minimal erythema doses between 280 and 300 nm monochromatic wavelengths without delayed peaking of erythema. UV81KO skin fibroblasts in culture was 5-fold more sensitive to 254 nm UV killing than normal cells, though the response of obligatory heterozygotes was normal. UV81KO cells were also more sensitive to killings by fluorescent sunlamp (295-300 nm UV-B) radiation, 4-nitroquinoline-1-oxide, and N-hydroxy-acetyl aminofluorene, but not by monofunctional decarbamoyl mitomycin C, bifunctional mitomycin C, and alkylating agents (methyl methanesulfonate, ethyl methanesulfonate, N-methyl-N-nitrosourea). Assays for unscheduled DNA synthesis, T4 endonuclease V-susceptible sites (pyrimidine dimers), endogenous excision-break accumulation by arabinofuranosyl cytosine-plus-hydroxyurea, single-strand-break rejoining, and molecular-weight increase of pulse-chased DNA in irradiated cells indicated no apparently detectable defects in nucleotide-excision repair processes and in replicative bypass in UV81KO cells. Despite the repair proficiency as such, UV81KO cells showed the defective recovery of DNA synthesis after 254 nm UV irradiation with 1 and 5 J/m2, at which dose the recovery occurred in normal cells. The base line level of sister-chromatid exchanges (SCEs) was higher in UV81KO cells (10-12 SCEs/cell) than in normal cells (5 SCEs/cell), although the induction rate of SCEs by 254 nm UV in UV81KO cells was the same as in normal cells. Such clinical, cellular and molecular characteristics and comparison to those in the other photodermatoses (xeroderma pigmentosum, Cockayne's syndrome, the 11961 disorder, Bloom's syndrome) can make a clear distinction of UV81KO from the others

  3. A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Fujiwara, Y.; Ichihashi, M.; Kano, Y.; Goto, K.; Shimizu, K.

    1981-09-01

    A non-sensitive, 8-yr-old male patient (termed UV81KO) with only acute recurrent sunburns and without any other physical or neuromental retardations was studied. The patient's skin exhibited lowered minimal erythema doses between 280 and 300 nm monochromatic wavelengths without delayed peaking of erythema. UV81KO skin fibroblasts in culture was 5-fold more sensitive to 254 nm UV killing than normal cells, though the response of obligatory heterozygotes was normal. UV81KO cells were also more sensitive to killings by fluorescent sunlamp (295-300 nm UV-B) radiation, 4-nitroquinoline-1-oxide, and N-hydroxy-acetyl aminofluorene, but not by monofunctional decarbamoyl mitomycin C, bifunctional mitomycin C, and alkylating agents (methyl methanesulfonate, ethyl methanesulfonate, N-methyl-N-nitrosourea). Assays for unscheduled DNA synthesis, T4 endonuclease V-susceptible sites (pyrimidine dimers), endogenous excision-break accumulation by arabinofuranosyl cytosine-plus-hydroxyurea, single-strand-break rejoining, and molecular-weight increase of pulse-chased DNA in irradiated cells indicated no apparently detectable defects in nucleotide-excision repair processes and in replicative bypass in UV81KO cells. Despite the repair proficiency as such, UV81KO cells showed the defective recovery of DNA synthesis after 254 nm UV irradiation with 1 and 5 J/m2, at which dose the recovery occurred in normal cells. The base line level of sister-chromatid exchanges (SCEs) was higher in UV81KO cells (10-12 SCEs/cell) than in normal cells (5 SCEs/cell), although the induction rate of SCEs by 254 nm UV in UV81KO cells was the same as in normal cells. Such clinical, cellular and molecular characteristics and comparison to those in the other photodermatoses (xeroderma pigmentosum, Cockayne's syndrome, the 11961 disorder, Bloom's syndrome) can make a clear distinction of UV81KO from the others.

  4. Extremely Preterm Birth

    Science.gov (United States)

    ... Events Advocacy For Patients About ACOG Extremely Preterm Birth Home For Patients Search FAQs Extremely Preterm Birth ... Spanish FAQ173, June 2016 PDF Format Extremely Preterm Birth Pregnancy When is a baby considered “preterm” or “ ...

  5. Birth control pills - combination

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/patientinstructions/000655.htm Birth control pills - combination To use the sharing features on ... both progestin and estrogen. What Are Combination Birth Control Pills? Birth control pills help keep you from ...

  6. Essure Permanent Birth Control

    Science.gov (United States)

    ... Prosthetics Essure Permanent Birth Control Essure Permanent Birth Control Share Tweet Linkedin Pin it More sharing options ... Print Essure is a a permanently implanted birth control device for women (female sterilization). Implantation of Essure ...

  7. The preterm prediction study: risk factors for indicated preterm births. Maternal-Fetal Medicine Units Network of the National Institute of Child Health and Human Development.

    Science.gov (United States)

    Meis, P J; Goldenberg, R L; Mercer, B M; Iams, J D; Moawad, A H; Miodovnik, M; Menard, M K; Caritis, S N; Thurnau, G R; Bottoms, S F; Das, A; Roberts, J M; McNellis, D

    1998-03-01

    Preterm births occur for many different reasons. Most efforts to identify risk factors for preterm births either ignore cause and consider preterm births as a single entity or examine risk factors for spontaneous preterm births. We performed this study to examine risk factors for indicated preterm births, which constitute more than one quarter of all preterm births. The study included 2929 women evaluated at 24 weeks' gestation at 10 centers. Information was gathered about demographic factors, socioeconomic status, home and work environments, drug and alcohol use, and medical history. In addition vaginal samples were evaluated for fetal fibronectin and bacterial vaginosis and cervical length was measured by transvaginal ultrasonography. Associations with indicated preterm birth were evaluated by univariate tests and by multivariable analysis with logistic regression. Of the women studied at 24 weeks' gestation 15.3% were delivered of their infants at births. Risk factors in the final multivariable model were, in order of decreasing odds ratios, mullerian duct abnormality (odds ratio 7.02), proteinuria at history of chronic hypertension (odds ratio 4.06), history of previous indicated preterm birth (odds ratio 2.79), history of lung disease (odds ratio 2.52), previous spontaneous preterm birth (odds ratio 2.45), age >30 years (odds ratio 2.42), black ethnicity (odds ratio 1.56), and working during pregnancy (odds ratio 1.49). Alcohol use in pregnancy was actually associated with a lower risk of indicated preterm birth (odds ratio 0.35). The risk factors found in this analysis tend to be different from those associated with spontaneous preterm birth.

  8. Embedded defects

    International Nuclear Information System (INIS)

    Barriola, M.; Vachaspati, T.; Bucher, M.

    1994-01-01

    We give a prescription for embedding classical solutions and, in particular, topological defects in field theories which are invariant under symmetry groups that are not necessarily simple. After providing examples of embedded defects in field theories based on simple groups, we consider the electroweak model and show that it contains the Z string and a one-parameter family of strings called the W(α) string. It is argued that although the members of this family are gauge equivalent when considered in isolation, each member becomes physically distinct when multistring configurations are considered. We then turn to the issue of stability of embedded defects and demonstrate the instability of a large class of such solutions in the absence of bound states or condensates. The Z string is shown to be unstable for all values of the Higgs boson mass when θ W =π/4. W strings are also shown to be unstable for a large range of parameters. Embedded monopoles suffer from the Brandt-Neri-Coleman instability. Finally, we connect the electroweak string solutions to the sphaleron

  9. Augmentation of failed human vertebrae with critical un-contained lytic defect restores their structural competence under functional loading: An experimental study.

    Science.gov (United States)

    Alkalay, Ron N; von Stechow, Dietrich; Hackney, David B

    2015-07-01

    Lytic spinal lesions reduce vertebral strength and may result in their fracture. Vertebral augmentation is employed clinically to provide mechanical stability and pain relief for vertebrae with lytic lesions. However, little is known about its efficacy in strengthening fractured vertebrae containing lytic metastasis. Eighteen unembalmed human lumbar vertebrae, having simulated uncontained lytic defects and tested to failure in a prior study, were augmented using a transpedicular approach and re-tested to failure using a wedge fracture model. Axial and moment based strength and stiffness parameters were used to quantify the effect of augmentation on the structural response of the failed vertebrae. Effects of cement volume, bone mineral density and vertebral geometry on the change in structural response were investigated. Augmentation increased the failed lytic vertebral strength [compression: 85% (Paugmentation is effective in bolstering the failed lytic vertebrae compressive and axial structural competence, showing strength estimates up to 50-90% of historical values of osteoporotic vertebrae without lytic defects. This modest increase suggests that lytic vertebrae undergo a high degree of structural damage at failure, with strength only partially restored by vertebral augmentation. The positive effect of cement volume is self-limiting due to extravasation. Copyright © 2015. Published by Elsevier Ltd.

  10. Hair Follicle Morphogenesis in the Treatment of Mouse Full-Thickness Skin Defects Using Composite Human Acellular Amniotic Membrane and Adipose Derived Mesenchymal Stem Cells

    Directory of Open Access Journals (Sweden)

    Wu Minjuan

    2016-01-01

    Full Text Available Early repair of skin injury and maximal restoration of the function and appearance have become important targets of clinical treatment. In the present study, we observed the healing process of skin defects in nude mice and structural characteristics of the new skin after transplantation of isolated and cultured adipose derived mesenchymal stem cells (ADMSCs onto the human acellular amniotic membrane (AAM. The result showed that ADMSCs were closely attached to the surface of AAM and grew well 24 h after seeding. Comparison of the wound healing rate at days 7, 14, and 28 after transplantation showed that ADMSCs seeded on AAM facilitated the healing of full-thickness skin wounds more effectively as compared with either hAM or AAM alone, indicating that ADMSCs participated in skin regeneration. More importantly, we noticed a phenomenon of hair follicle development during the process of skin repair. Composite ADMSCs and AAM not only promoted the healing of the mouse full-thickness defects but also facilitated generation of the appendages of the affected skin, thus promoting restoration of the skin function. Our results provide a new possible therapy idea for the treatment of skin wounds with respect to both anatomical regeneration and functional restoration.

  11. Nasal chondrocyte-based engineered autologous cartilage tissue for repair of articular cartilage defects: an observational first-in-human trial.

    Science.gov (United States)

    Mumme, Marcus; Barbero, Andrea; Miot, Sylvie; Wixmerten, Anke; Feliciano, Sandra; Wolf, Francine; Asnaghi, Adelaide M; Baumhoer, Daniel; Bieri, Oliver; Kretzschmar, Martin; Pagenstert, Geert; Haug, Martin; Schaefer, Dirk J; Martin, Ivan; Jakob, Marcel

    2016-10-22

    Articular cartilage injuries have poor repair capacity, leading to progressive joint damage, and cannot be restored predictably by either conventional treatments or advanced therapies based on implantation of articular chondrocytes. Compared with articular chondrocytes, chondrocytes derived from the nasal septum have superior and more reproducible capacity to generate hyaline-like cartilage tissues, with the plasticity to adapt to a joint environment. We aimed to assess whether engineered autologous nasal chondrocyte-based cartilage grafts allow safe and functional restoration of knee cartilage defects. In a first-in-human trial, ten patients with symptomatic, post-traumatic, full-thickness cartilage lesions (2-6 cm 2 ) on the femoral condyle or trochlea were treated at University Hospital Basel in Switzerland. Chondrocytes isolated from a 6 mm nasal septum biopsy specimen were expanded and cultured onto collagen membranes to engineer cartilage grafts (30 × 40 × 2 mm). The engineered tissues were implanted into the femoral defects via mini-arthrotomy and assessed up to 24 months after surgery. Primary outcomes were feasibility and safety of the procedure. Secondary outcomes included self-assessed clinical scores and MRI-based estimation of morphological and compositional quality of the repair tissue. This study is registered with ClinicalTrials.gov, number NCT01605201. The study is ongoing, with an approved extension to 25 patients. For every patient, it was feasible to manufacture cartilaginous grafts with nasal chondrocytes embedded in an extracellular matrix rich in glycosaminoglycan and type II collagen. Engineered tissues were stable through handling with forceps and could be secured in the injured joints. No adverse reactions were recorded and self-assessed clinical scores for pain, knee function, and quality of life were improved significantly from before surgery to 24 months after surgery. Radiological assessments indicated variable degrees of

  12. Insulin binding and stimulation of hexose and amino acid transport by normal and receptor-defective human fibroblasts

    International Nuclear Information System (INIS)

    Longo, N.; Nagata, N.; Danner, D.; Priest, J.; Elsas, L.

    1986-01-01

    The authors analyzed insulin receptors in cells cultured from a sibship of related parents who had two offspring with severe insulin resistance (Leprechaunism). 124 I-Insulin (1 ng/ml) binding to skin fibroblasts from the proband, mother, and father was 9, 60 and 62% of control cells, respectively, at equilibrium, Non-linear regression analysis, utilizing a two receptors model, of curvilinear Scatchard plots indicated a reduced number of high-affinity binding sites in both parents. Influx of L-Proline (System A), L-Serine (ASC) and L-Leucine (L) was similar in control and mutant cells. Similarly, during the depletion of intracellular amino acid pools, there was a release from transinhibition for System A and a decrease of transstimulation of Systems ASC and L in both cell lines. Surprisingly, insulin augmented, normally, A system influx with an ED 50 = 70 ng/ml at 24 0 C and 7 ng/ml at 37 0 C. By contrast insulin failed to simulated 3-0-methyl-D-glucose influx into the proband's cells, while normal cells were stimulated 30% with an ED 50 of 6 ng/ml. These results indicate that defective high-affinity insulin binding is inherited as an autosomal recessive trait; that general membrane functions are intact; that insulin regulates A system amino acid and hexose transport by two different mechanisms; and, that the latter mechanism is impaired by this family's receptor mutation

  13. Digital subtraction radiographic analysis of the combination of bioabsorbable membrane and bovine morphogenetic protein pool in human periodontal infrabony defects

    Directory of Open Access Journals (Sweden)

    Maria do Carmo Machado Guimarães

    2010-08-01

    Full Text Available OBJECTIVES: This study assessed the bone density gain and its relationship with the periodontal clinical parameters in a case series of a regenerative therapy procedure. MATERIAL AND METHODS: Using a split-mouth study design, 10 pairs of infrabony defects from 15 patients were treated with a pool of bovine bone morphogenetic proteins associated with collagen membrane (test sites or collagen membrane only (control sites. The periodontal healing was clinically and radiographically monitored for six months. Standardized pre-surgical and 6-month postoperative radiographs were digitized for digital subtraction analysis, which showed relative bone density gain in both groups of 0.034 ± 0.423 and 0.105 ± 0.423 in the test and control group, respectively (p>0.05. RESULTS: As regards the area size of bone density change, the influence of the therapy was detected in 2.5 mm² in the test group and 2 mm² in the control group (p>0.05. Additionally, no correlation was observed between the favorable clinical results and the bone density gain measured by digital subtraction radiography (p>0.05. CONCLUSIONS: The findings of this study suggest that the clinical benefit of the regenerative therapy observed did not come with significant bone density gains. Long-term evaluation may lead to a different conclusions.

  14. Evaluation of effectiveness of hyaluronic acid in combination with bioresorbable membrane (poly lactic acid-poly glycolic acid for the treatment of infrabony defects in humans: A clinical and radiographic study

    Directory of Open Access Journals (Sweden)

    Bhumika Sehdev

    2016-01-01

    Full Text Available Background: The combination of biomaterials, bone graft substitutes along with guided tissue regeneration (GTR has been shown to be an effective modality of periodontal regenerative therapy for infrabony defects. Therefore, the present randomized controlled clinical study was undertaken to evaluate the effectiveness of hyaluronic acid (HA in combination with bioresorbable membrane for the treatment of human infrabony defects. Materials and Methods: Twenty four infrabony defects in 20 systemically healthy patients were randomly assigned to test (HA in combination with bioresorbable membrane and control (bioresorbable membrane alone treatment groups. Probing pocket depth (PPD, relative attachment level, and relative gingival margin level were measured with a computerized Florida disc probe at baseline and at 6 months follow-up. Radiographic measurements were also evaluated at baseline and at 6 months of postsurgery. Results: At 6 months, the mean reduction in PPD in test group and control group was 4.52 mm and 2.97 mm, respectively. Significantly higher clinical attachment level with a gain of 2.20 mm was found in the test group as compared to control group. In addition, statistically significant greater reduction of radiographic defect depth was observed in the test group. Conclusion: Regenerative approach using hyaloss in combination with GTR for the treatment of human infrabony defects resulted in a significant added benefit in terms of CAL gains, PPD reductions and radiographic defect fill, as well as LBG, compared to the GTR alone.

  15. The Medical Birth Registry of Norway – An international perspective

    Directory of Open Access Journals (Sweden)

    Allen J. Wilcox

    2007-01-01

    Full Text Available Some of the most practical questions of perinatal medicine are regarding couples who have had pregnancy problems in the past, and their risk of having such problems in future pregnancies. For example, if a couple has a child with a birth defect, what are their chances that their next child will have a defect? The key to answering such questions is the availability of linked data such as those provided by the Medical Birth Registry of Norway. Such linked data provide a unique resource for addressing a broad range of questions in perinatal epidemiology. The Medical Birth Registry of Norway has been a pioneer in answering such questions.

  16. The Medical Birth Registry of Norway – An international perspective

    Directory of Open Access Journals (Sweden)

    Allen J. Wilcox

    2009-10-01

    Full Text Available Some of the most practical questions of perinatal medicine are regarding couples who have had pregnancy problems in the past, and their risk of having such problems in future pregnancies. For example, if a couple has a child with a birth defect, what are their chances that their next child will have a defect? The key to answering such questions is the availability of linked data such as those provided by the Medical Birth Registry of Norway. Such linked data provide a unique resource for addressing a broad range of questions in perinatal epidemiology. The Medical Birth Registry of Norway has been a pioneer in answering such questions

  17. An efficient deletion mutant packaging system for defective herpes simplex virus vectors: Potential applications to human gene therapy and neuronal physiology

    International Nuclear Information System (INIS)

    Geller, A.I.; Keyomarsi, K.; Bryan, J.; Pardee, A.B.

    1990-01-01

    The authors have previously described a defective herpes simplex virus (HSV-1) vector system that permits that introduction of virtually any gene into nonmitotic cells. pHSVlac, the prototype vector, stably expresses Escherichia coli β-galactosidase from a constitutive promoter in many human cell lines, in cultured rat neurons from throughout the nervous system, and in cells in the adult rat brain. HSV-1 vectors expressing other genes may prove useful for studying neuronal physiology or performing human gene therapy for neurological diseases, such as Parkinson disease or brain tumors. A HSV-1 temperature-sensitive (ts) mutant, ts K, has been used as helper virus; ts mutants revert to wild type. In contrast, HSV-1 deletion mutants essentially cannot revert to wild type; therefore, use of a deletion mutant as helper virus might permit human gene therapy with HSV-1 vectors. They now report an efficient packaging system for HSV-1 VECTORS USING A DELETION MUTANT, d30EBA, as helper virus; virus is grown on the complementing cell line M64A. pHSVlac virus prepared using the deletion mutant packaging system stably expresses β-galactosidase in cultured rat sympathetic neurons and glia. Both D30EBA and ts K contain a mutation in the IE3 gene of HSV-1 strain 17 and have the same phenotype; therefore, changing the helper virus from ts K to D30EBA does not alter the host range or other properties of the HSV-1 vector system

  18. Advances of human bone marrow-derived mesenchymal stem cells in the treatment of cartilage defects: a systematic review.

    Science.gov (United States)

    Gopal, Kaliappan; Amirhamed, Haji Alizadeh; Kamarul, Tunku

    2014-06-01

    Mesenchymal stem cell (MSC)-based therapies represent a new option for treating damaged cartilage. However, the outcomes following its clinical application have seldom been previously compared. The present paper presents the systematic review of current literatures on MSC-based therapy for cartilage repair in clinical applications. Ovid, Scopus, PubMed, ISI Web of Knowledge and Google Scholar online databases were searched using several keywords, which include "cartilage" and "stem cells". Only studies using bone marrow-derived MSC (BM-MSC) to treat cartilage defects clinically were included in this review. The clinical outcomes were compared, and the quality of the tissue repair was analysed where possible. Of the 996 articles, only six (n = 6) clinical studies have described the use of BM-MSC in clinical applications. Two studies were cohort observational trials, three were case series, and one was a case report. In the two comparative trials, BM-MSCs produced superior repair to cartilage treatment without cells and have comparable outcomes to autologous chondrocyte implantation. The case series and case-control studies have demonstrated that use of BM-MSCs resulted in better short- to long-term clinical outcomes with minimal complications. In addition, histological analyses in two studies have resulted in good repair tissue formation at the damaged site, composed mainly of hyaline-like cartilage. Although results of the respective studies are highly indicative that BM-MSC-based therapy is superior, due to the differences in methods and selection criteria used, it was not possible to make direct comparison between the studies. In conclusion, published studies do suggest that BM-MSCs could provide superior cartilage repair. However, due to limited number of reports, more robust studies might be required before a definitive conclusion can be drawn.

  19. Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency

    NARCIS (Netherlands)

    Meijers, J. C.; Davie, E. W.; Chung, D. W.

    1992-01-01

    Human factor XI (FXI) is a blood coagulation factor participating in the early phase of the intrinsic pathway of blood coagulation. It circulates in blood as a glycoprotein composed of two identical chains held together by a single disulfide bond between the fourth apple domains. FXI has been

  20. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient

    NARCIS (Netherlands)

    Huizing, M.; Iacobazzi, V.; IJlst, L.; Savelkoul, P.; Ruitenbeek, W.; van den Heuvel, L.; Indiveri, C.; Smeitink, J.; Trijbels, F.; Wanders, R.; Palmieri, F.

    1997-01-01

    The carnitine-acylcarnitine carrier (CAC) catalyzes the translocation of long-chain fatty acids across the inner mitochondrial membrane. We cloned and sequenced the human CAC cDNA, which has an open reading frame of 903 nucleotides. Northern blot studies revealed different expression levels of CAC

  1. Contractile Defect Caused by Mutation in MYBPC3 Revealed under Conditions Optimized for Human PSC-Cardiomyocyte Function

    NARCIS (Netherlands)

    M.J. Birket (Matthew J.); M.C. Ribeiro (Marcelo C.); G. Kosmidis (Georgios); D. Ward (Dorien); A.R. Leitoguinho (Ana Rita); V. van de Pol (Vera); C. Dambrot (Cheryl); H.D. Devalla (Harsha D.); R.P. Davis (Richard P.); P.G. Mastroberardino (Pier); D.E. Atsma (Douwe); R. Passier (Robert); C.L. Mummery (Christine)

    2015-01-01

    textabstractMaximizing baseline function of human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs) is essential for their effective application in models of cardiac toxicity and disease. Here, we aimed to identify factors that would promote an adequate level of function to permit robust

  2. R5 human immunodeficiency virus type 1 with efficient DC-SIGN use is not selected for early after birth in vertically infected children.

    Science.gov (United States)

    Borggren, Marie; Navér, Lars; Casper, Charlotte; Ehrnst, Anneka; Jansson, Marianne

    2013-04-01

    The binding of human immunodeficiency virus (HIV) to C-type lectin receptors may result in either enhanced trans-infection of T-cells or virus degradation. We have investigated the efficacy of HIV-1 utilization of DC-SIGN, a C-type lectin receptor, in the setting of intrauterine or intrapartum mother-to-child transmission (MTCT). Viruses isolated from HIV-1-infected mothers at delivery and from their vertically infected children both shortly after birth and later during the progression of the disease were analysed for their use of DC-SIGN, binding and ability to trans-infect. DC-SIGN use of a child's earlier virus isolate tended to be reduced as compared with that of the corresponding maternal isolate. Furthermore, the children's later isolate displayed enhanced DC-SIGN utilization compared with that of the corresponding earlier virus. These results were also supported in head-to-head competition assays and suggest that HIV-1 variants displaying efficient DC-SIGN use are not selected for during intrauterine or intrapartum MTCT. However, viruses with increased DC-SIGN use may evolve later in paediatric HIV-1 infections.

  3. Intergenerational conflicts may help explain parental absence effects on reproductive timing: a model of age at first birth in humans

    Directory of Open Access Journals (Sweden)

    Cristina Moya

    2014-08-01

    Full Text Available Background. Parental absences in childhood are often associated with accelerated reproductive maturity in humans. These results are counterintuitive for evolutionary social scientists because reductions in parental investment should be detrimental for offspring, but earlier reproduction is generally associated with higher fitness. In this paper we discuss a neglected hypothesis that early reproduction is often associated with parental absence because it decreases the average relatedness of a developing child to her future siblings. Family members often help each other reproduce, meaning that parents and offspring may find themselves in competition over reproductive opportunities. In these intergenerational negotiations offspring will have less incentive to help the remaining parent rear future half-siblings relative to beginning reproduction themselves.Method. We illustrate this “intergenerational conflict hypothesis” with a formal game-theoretic model.Results. We show that when resources constrain reproductive opportunities within the family, parents will generally win reproductive conflicts with their offspring, i.e., they will produce more children of their own and therefore delay existing offsprings’ reproduction. This is due to the asymmetric relatedness between grandparents and grandchildren (r = .25, compared to siblings (r = 0.5, resulting in greater incentives for older siblings to help rear younger siblings than for grandparents to help rear grandchildren. However, if a parent loses or replaces their partner, the conflict between the parent and offspring becomes symmetric since half siblings are as related to one another as grandparents are to grandchildren. This means that the offspring stand to gain more from earlier reproduction when their remaining parent would produce half, rather than full, siblings. We further show that if parents senesce in a way that decreases the quality of their infant relative to their offspring

  4. A Pleasing Birth

    NARCIS (Netherlands)

    Vries, De Raymond

    2005-01-01

    Women have long searched for a pleasing birth-a birth with a minimum of fear and pain, in the company of supportive family, friends, and caregivers, a birth that ends with a healthy mother and baby gazing into each other's eyes. For women in the Netherlands, such a birth is defined as one at home

  5. Knockdown of Fanconi anemia genes in human embryonic stem cells reveals early developmental defects in the hematopoietic lineage.

    Science.gov (United States)

    Tulpule, Asmin; Lensch, M William; Miller, Justine D; Austin, Karyn; D'Andrea, Alan; Schlaeger, Thorsten M; Shimamura, Akiko; Daley, George Q

    2010-04-29

    Fanconi anemia (FA) is a genetically heterogeneous, autosomal recessive disorder characterized by pediatric bone marrow failure and congenital anomalies. The effect of FA gene deficiency on hematopoietic development in utero remains poorly described as mouse models of FA do not develop hematopoietic failure and such studies cannot be performed on patients. We have created a human-specific in vitro system to study early hematopoietic development in FA using a lentiviral RNA interference (RNAi) strategy in human embryonic stem cells (hESCs). We show that knockdown of FANCA and FANCD2 in hESCs leads to a reduction in hematopoietic fates and progenitor numbers that can be rescued by FA gene complementation. Our data indicate that hematopoiesis is impaired in FA from the earliest stages of development, suggesting that deficiencies in embryonic hematopoiesis may underlie the progression to bone marrow failure in FA. This work illustrates how hESCs can provide unique insights into human development and further our understanding of genetic disease.

  6. Contractile Defect Caused by Mutation in MYBPC3 Revealed under Conditions Optimized for Human PSC-Cardiomyocyte Function

    Directory of Open Access Journals (Sweden)

    Matthew J. Birket

    2015-10-01

    Full Text Available Maximizing baseline function of human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs is essential for their effective application in models of cardiac toxicity and disease. Here, we aimed to identify factors that would promote an adequate level of function to permit robust single-cell contractility measurements in a human induced pluripotent stem cell (hiPSC model of hypertrophic cardiomyopathy (HCM. A simple screen revealed the collaborative effects of thyroid hormone, IGF-1 and the glucocorticoid analog dexamethasone on the electrophysiology, bioenergetics, and contractile force generation of hPSC-CMs. In this optimized condition, hiPSC-CMs with mutations in MYBPC3, a gene encoding myosin-binding protein C, which, when mutated, causes HCM, showed significantly lower contractile force generation than controls. This was recapitulated by direct knockdown of MYBPC3 in control hPSC-CMs, supporting a mechanism of haploinsufficiency. Modeling this disease in vitro using human cells is an important step toward identifying therapeutic interventions for HCM.

  7. Cyclopropane fatty acid synthase mutants of probiotic human-derived Lactobacillus reuteri are defective in TNF inhibition.

    Science.gov (United States)

    Jones, Sara E; Whitehead, Kristi; Saulnier, Delphine; Thomas, Carissa M; Versalovic, James; Britton, Robert A

    2011-01-01

    Although commensal microbes have been shown to modulate host immune responses, many of the bacterial factors that mediate immune regulation remain unidentified. Select strains of human-derived Lactobacillus reuteri synthesize immunomodulins that potently inhibit production of the inflammatory cytokine TNF. In this study, genetic and genomic approaches were used to identify and investigate L. reuteri genes required or human TNF immunomodulatory activity. Analysis of membrane fatty acids from multiple L. reuteri strains cultured in MRS medium showed that only TNF inhibitory strains produced the cyclopropane fatty acid (CFA) lactobacillic acid. The enzyme cyclopropane fatty acid synthase is required for synthesis of CFAs such as lactobacillic acid, therefore the cfa gene was inactivated and supernatants from the cfa mutant strain were assayed for TNF inhibitory activity. We found that supernatants from the wild-type strain, but not the cfa mutant, suppressed TNF production by activated THP-1 human monocytoid cells Although this suggested a direct role for lactobacillic acid in immunomodulation, purified lactobacillic acid did not suppress TNF at physiologically relevant concentrations. We further analyzed TNF inhibitory and TNF non-inhibitory strains under different growth conditions and found that lactobacillic acid production did not correlate with TNF inhibition. These results indicate that cfa indirectly contributed to L. reuter immunomodulatory activity and suggest that other mechanisms, such as decreased membrane fluidity or altered expression of immunomodulins, result in the loss of TNF inhibitory activity. By increasing our understanding of immunomodulation by probiotic species, beneficial microbes can be rationally selected to alleviate intestinal inflammation.

  8. Congenital Heart Defects and Receipt of Special Education Services.

    Science.gov (United States)

    Riehle-Colarusso, Tiffany; Autry, Andrew; Razzaghi, Hilda; Boyle, Coleen A; Mahle, William T; Van Naarden Braun, Kim; Correa, Adolfo

    2015-09-01

    We investigated the prevalence of receipt of special education services among children with congenital heart defects (CHDs) compared with children without birth defects. Children born from 1982 to 2004 in metropolitan Atlanta with CHDs (n = 3744) were identified from a population-based birth defect surveillance program; children without birth defects (n = 860 715) were identified from birth certificates. Cohorts were linked to special education files for the 1992-2012 school years to identify special education services. Children with noncardiac defects or genetic syndromes were excluded; children with CHDs were classified by presence or absence of critical CHDs (ie, CHDs requiring intervention by age one year). We evaluated the prevalence of receipt of special education services and prevalence rate ratios using children without birth defects as a reference. Compared with children without birth defects, children with CHDs were 50% more likely to receive special education services overall (adjusted prevalence rate ratio [aPRR] = 1.5; 95% confidence interval [CI]: 1.4-1.7). Specifically, they had higher prevalence of several special education categories including: intellectual disability (aPRR = 3.8; 95% CI: 2.8-5.1), sensory impairment (aPRR = 3.0; 95% CI: 1.8-5.0), other health impairment (aPRR = 2.8; 95% CI: 2.2-3.5), significant developmental delay (aPRR = 1.9; 95% CI: 1.3-2.8), and specific learning disability (aPRR = 1.4; 95% CI: 1.1-1.7). For most special education services, the excess prevalence did not vary by presence of critical CHDs. Children with CHDs received special education services more often than children without birth defects. These findings highlight the need for special education services and the importance of developmental screening for all children with CHDs. Copyright © 2015 by the American Academy of Pediatrics.

  9. Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia

    Science.gov (United States)

    Denton, Kyle R.; Lei, Ling; Grenier, Jeremy; Rodionov, Vladimir; Blackstone, Craig; Li, Xue-Jun

    2013-01-01

    Human neuronal models of hereditary spastic paraplegias (HSP) that recapitulate disease-specific axonal pathology hold the key to understanding why certain axons degenerate in patients and to developing therapies. SPG4, the most common form of HSP, is caused by autosomal dominant mutations in the SPAST gene, which encodes the microtubule-severing ATPase spastin. Here, we have generated a human neuronal model of SPG4 by establishing induced pluripotent stem cells (iPSCs) from an SPG4 patient and differentiating these cells into telencephalic glutamatergic neurons. The SPG4 neurons displayed a significant increase in axonal swellings, which stained strongly for mitochondria and tau, indicating the accumulation of axonal transport cargoes. In addition, mitochondrial transport was decreased in SPG4 neurons, revealing that these patient iPSC-derived neurons recapitulate disease-specific axonal phenotypes. Interestingly, spastin protein levels were significantly decreased in SPG4 neurons, supporting a haploinsufficiency mechanism. Furthermore, cortical neurons derived from spastin-knockdown human embryonic stem cells (hESCs) exhibited similar axonal swellings, confirming that the axonal defects can be caused by loss of spastin function. These spastin-knockdown hESCs serve as an additional model for studying HSP. Finally, levels of stabilized acetylated-tubulin were significantly increased in SPG4 neurons. Vinblastine, a microtubule-destabilizing drug, rescued this axonal swelling phenotype in neurons derived from both SPG4 iPSCs and spastin-knockdown hESCs. Thus, this study demonstrates the successful establishment of human pluripotent stem cell-based neuronal models of SPG4, which will be valuable for dissecting the pathogenic cellular mechanisms and screening compounds to rescue the axonal degeneration in HSP. PMID:24123785

  10. Planned home births in Czech republic

    OpenAIRE

    Vlhová, Marína

    2007-01-01

    The aim of thesis is to describe general characteristic of women planned home birth in Czech republic. There are described also reasons and motivation to decide to this in thesis. Theoretical part of work is based on history of obstetrics in the world and Czech countries. This part of work analysis current models of birth care and explains humanization of obstetrics and inform about grant and acceptors of birth care. There is summary of places of birth and legal issues in Czech republic nowad...

  11. Lipodystrophy in human immunodeficiency virus patients impairs insulin action and induces defects in beta-cell function

    DEFF Research Database (Denmark)

    Andersen, Ove; Haugaard, Steen B; Andersen, Ulrik B

    2003-01-01

    The pathophysiology of insulin resistance in human immunodeficiency virus (HIV)-associated lipodystrophy syndrome (HALS) is not fully clarified. We investigated 18 men with HALS and 18 HIV-positive males without lipodystrophy (control subjects). Duration and modality of antiretroviral therapy were...... that the percentage of limb fat (ie, peripheral-fat-mass/[peripheral-fat-mass + trunk-fat-mass]. 100%) was reduced in HALS patients (36% v 46%, P =.0002). Multiple linear regression analysis indicated that percentage of limb fat explained 53% of the variability of GDR and 45% of the variability of NOGM in HALS...

  12. N-acylated peptides derived from human lactoferricin perturb organization of cardiolipin and phosphatidylethanolamine in cell membranes and induce defects in Escherichia coli cell division.

    Directory of Open Access Journals (Sweden)

    Dagmar Zweytick

    Full Text Available Two types of recently described antibacterial peptides derived from human lactoferricin, either nonacylated or N-acylated, were studied for their different interaction with membranes of Escherichia coli in vivo and in model systems. Electron microscopy revealed striking effects on the bacterial membrane as both peptide types induced formation of large membrane blebs. Electron and fluorescence microscopy, however demonstrated that only the N-acylated peptides partially induced the generation of oversized cells, which might reflect defects in cell-division. Further a different distribution of cardiolipin domains on the E. coli membrane was shown only in the presence of the N-acylated peptides. The lipid was distributed over the whole bacterial cell surface, whereas cardiolipin in untreated and nonacylated peptide-treated cells was mainly located at the septum and poles. Studies with bacterial membrane mimics, such as cardiolipin or phosphatidylethanolamine revealed that both types of peptides interacted with the negatively charged lipid cardiolipin. The nonacylated peptides however induced segregation of cardiolipin into peptide-enriched and peptide-poor lipid domains, while the N-acylated peptides promoted formation of many small heterogeneous domains. Only N-acylated peptides caused additional severe effects on the main phase transition of liposomes composed of pure phosphatidylethanolamine, while both peptide types inhibited the lamellar to hexagonal phase transition. Lipid mixtures of phosphatidylethanolamine and cardiolipin revealed anionic clustering by all peptide types. However additional strong perturbation of the neutral lipids was only seen with the N-acylated peptides. Nuclear magnetic resonance demonstrated different conformational arrangement of the N-acylated peptide in anionic and zwitterionic micelles revealing possible mechanistic differences in their action on different membrane lipids. We hypothesized that both peptides kill

  13. Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

    Directory of Open Access Journals (Sweden)

    Yubin Wang

    2016-06-01

    Full Text Available A CAPN1 missense mutation in Parson Russell Terrier dogs is associated with spinocerebellar ataxia. We now report that homozygous or heterozygous CAPN1-null mutations in humans result in cerebellar ataxia and limb spasticity in four independent pedigrees. Calpain-1 knockout (KO mice also exhibit a mild form of ataxia due to abnormal cerebellar development, including enhanced neuronal apoptosis, decreased number of cerebellar granule cells, and altered synaptic transmission. Enhanced apoptosis is due to absence of calpain-1-mediated cleavage of PH domain and leucine-rich repeat protein phosphatase 1 (PHLPP1, which results in inhibition of the Akt pro-survival pathway in developing granule cells. Injection of neonatal mice with the indirect Akt activator, bisperoxovanadium, or crossing calpain-1 KO mice with PHLPP1 KO mice prevented increased postnatal cerebellar granule cell apoptosis and restored granule cell density and motor coordination in adult mice. Thus, mutations in CAPN1 are an additional cause of ataxia in mammals, including humans.

  14. Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD.

    Directory of Open Access Journals (Sweden)

    Yuanquan Song

    2009-12-01

    Full Text Available In humans, mutations in electron transfer flavoprotein (ETF or electron transfer flavoprotein dehydrogenase (ETFDH lead to MADD/glutaric aciduria type II, an autosomal recessively inherited disorder characterized by a broad spectrum of devastating neurological, systemic and metabolic symptoms. We show that a zebrafish mutant in ETFDH, xavier, and fibroblast cells from MADD patients demonstrate similar mitochondrial and metabolic abnormalities, including reduced oxidative phosphorylation, increased aerobic glycolysis, and upregulation of the PPARG-ERK pathway. This metabolic dysfunction is associated with aberrant neural proliferation in xav, in addition to other neural phenotypes and paralysis. Strikingly, a PPARG antagonist attenuates aberrant neural proliferation and alleviates paralysis in xav, while PPARG agonists increase neural proliferation in wild type embryos. These results show that mitochondrial dysfunction, leading to an increase in aerobic glycolysis, affects neurogenesis through the PPARG-ERK pathway, a potential target for therapeutic intervention.

  15. Data on cytochrome c oxidase assembly in mice and human fibroblasts or tissues induced by SURF1 defect

    Directory of Open Access Journals (Sweden)

    Nikola Kovářová

    2016-06-01

    Full Text Available This paper describes data related to a research article entitled “Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects” [1]. This paper includes data of the quantitative analysis of individual forms of respiratory chain complexes I, III and IV present in SURF1 knockout (SURF1−/− and control (SURF1+/+ mouse fibroblasts and tissues and in fibroblasts of human control and patients with SURF1 gene mutation. Also it includes data demonstrating response of complex IV, cytochrome c oxidase (COX, to reversible inhibition of mitochondrial translation in SURF1−/− mouse and SURF1 patient fibroblast cell lines.

  16. Defective glycolysis and the use of 2-deoxy-D-glucose in polycystic kidney disease: from animal models to humans.

    Science.gov (United States)

    Magistroni, Riccardo; Boletta, Alessandra

    2017-08-01

    Autosomal dominant polycystic kidney disease (ADPKD) is an inherited renal disease characterized by bilateral renal cyst formation. ADPKD is one of the most common rare disorders, accounting for ~10% of all patients with end-stage renal disease (ESRD). ADPKD is a chronic disorder in which the gradual expansion of cysts that form in a minority of nephrons eventually causes loss of renal function due to the compression and degeneration of the surrounding normal parenchyma. Numerous deranged pathways have been identified in the cyst-lining epithelia, prompting the design of potential therapies. Several of these potential treatments have proved effective in slowing down disease progression in pre-clinical animal studies, while only one has subsequently been proven to effectively slow down disease progression in patients, and it has recently been approved for therapy in Europe, Canada and Japan. Among the affected cellular functions and pathways, recent investigations have described metabolic derangement in ADPKD as a major trait offering additional opportunities for targeted therapies. In particular, increased aerobic glycolysis (the Warburg effect) has been described as a prominent feature of ADPKD kidneys and its inhibition using the glucose analogue 2-deoxy-D-glucose (2DG) proved effective in slowing down disease progression in preclinical models of the disease. At the same time, previous clinical experiences have been reported with 2DG, showing that this compound is well tolerated in humans with minimal and reversible side effects. In this work, we review the literature and speculate that 2DG could be a good candidate for a clinical trial in humans affected by ADPKD.

  17. Global Burden of Neural Tube Defects, Risk Factors, and Prevention

    Directory of Open Access Journals (Sweden)

    Joseph E

    2014-11-01

    Full Text Available Neural tube defects (NTDs, serious birth defects of the brain and spine usually resulting in death or paralysis, affect an estimated 300,000 births each year worldwide. Although the majority of NTDs are preventable with adequate folic acid consumption during the preconception period and throughout the first few weeks of gestation, many populations, in particular those in low and middle resource settings, do not have access to fortified foods or vitamin supplements containing folic acid. Further, accurate birth defects surveillance data, which could help inform mandatory fortification and other NTD prevention initiatives, are lacking in many of these settings. The burden of birth defects in South East Asia is among the highest in the world. Expanding global neural tube defects prevention initiatives can support the achievement of the United Nations Millennium Development Goal 4 to reduce child mortality, a goal which many countries in South East Asia are currently not poised to reach, and the 63rd World Health Assembly Resolution on birth defects. More work is needed to develop and implement mandatory folic acid fortification policies, as well as supplementation programs in countries where the reach of fortification is limited.

  18. Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

    Science.gov (United States)

    Hart, Joseph; Miriyala, Kalpana

    2017-09-01

    Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of PAX3 in human neural tube formation remains a study of interest, for clinical as well as research purposes. Though the association between spina bifida and WS1 is now well-documented, no study has attempted to characterize the range of spina bifida phenotypes seen in WS. Spina bifida encompasses several diagnoses with a wide scope of clinical severity, ranging from spina bifida occulta to myelomeningocele. We present a patient with Waardenburg syndrome type 1 caused by a novel missense variant in PAX3, presenting with myelomeningocele, Arnold-Chiari malformation, and hydrocephalus at birth. Additionally, we review 32 total cases of neural tube defects associated with WS. Including this report, there have been 15 published cases of myelomeningocele, 10 cases of unspecified spina bifida, 3 cases of sacral dimples, 0 cases of meningocele, and 4 cases of miscellaneous other neural tube defects. Though the true frequency of each phenotype cannot be determined from this collection of cases, these results demonstrate that Waardenburg syndrome type 1 carries a notable risk of severe neural tube defects, which has implications in prenatal and genetic counseling. © 2017 Wiley Periodicals, Inc.

  19. Enzyme replacement prevents enamel defects in hypophosphatasia mice

    Science.gov (United States)

    Yadav, Manisha C.; de Oliveira, Rodrigo Cardoso; Foster, Brian L.; Fong, Hanson; Cory, Esther; Narisawa, Sonoko; Sah, Robert L.; Somerman, Martha; Whyte, Michael P.; Millán, José Luis

    2012-01-01

    Hypophosphatasia (HPP) is the inborn error of metabolism characterized by deficiency of alkaline phosphatase activity leading to rickets or osteomalacia and to dental defects. HPP occurs from loss-of-function mutations within the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNAP). TNAP knockout (Alpl−/−, a.k.a. Akp2−/−) mice closely phenocopy infantile HPP, including the rickets, vitamin B6-responsive seizures, improper dentin mineralization, and lack of acellular cementum. Here, we report that lack of TNAP in Alpl−/− mice also causes severe enamel defects, which are preventable by enzyme replacement with mineral-targeted TNAP (ENB-0040). Immunohistochemistry was used to map the spatiotemporal expression of TNAP in the tissues of the developing enamel organ of healthy mouse molars and incisors. We found strong, stage-specific expression of TNAP in ameloblasts. In the Alpl−/− mice, histological, μCT, and scanning electron microscopy analysis showed reduced mineralization and disrupted organization of the rods and inter-rod structures in enamel of both the molars and incisors. All of these abnormalities were prevented in mice receiving from birth daily subcutaneous injections of mineral-targeting, human TNAP (sALP-FcD10, a.k.a. ENB-0040) at 8.2 mg/kg/day for up to 44 days. These data reveal an important role for TNAP in enamel mineralization, and demonstrate the efficacy of mineral-targeted TNAP to prevent enamel defects in HPP. PMID:22461224

  20. A study of membrane protein defects and alpha hemoglobin chains of red blood cells in human beta thalassemia

    International Nuclear Information System (INIS)

    Rouyer-Fessard, P.; Garel, M.C.; Domenget, C.; Guetarni, D.; Bachir, D.; Colonna, P.; Beuzard, Y.

    1989-01-01

    The soluble pool of alpha hemoglobin chains present in blood or bone marrow cells was measured with a new affinity method using a specific probe, beta A hemoglobin chain labeled with [ 3 H]N-ethylmaleimide. This pool of soluble alpha chains was 0.067 ± 0.017% of hemoglobin in blood of normal adult, 0.11 ± 0.03% in heterozygous beta thalassemia and ranged from 0.26 to 1.30% in homozygous beta thalassemia intermedia. This elevated pool of soluble alpha chains observed in human beta thalassemia intermedia decreased 33-fold from a value of 10% of total hemoglobin in bone marrow cells to 0.3% in the most dense red blood cells. The amount of insoluble alpha chains was measured by using the polyacrylamide gel electrophoresis in urea and Triton X-100. In beta thalassemia intermedia the amount of insoluble alpha chains was correlated with the decreased spectrin content of red cell membrane and was associated with a decrease in ankyrin and with other abnormalities of the electrophoretic pattern of membrane proteins. The loss and topology of the reactive thiol groups of membrane proteins was determined by using [ 3 H]N-ethylmaleimide added to membrane ghosts prior to urea and Triton X-100 electrophoresis. Spectrin and ankyrin were the major proteins with the most important decrease of thiol groups

  1. Prenatal exposure to environmental factors and congenital limb defects.

    Science.gov (United States)

    Alexander, Peter G; Clark, Karen L; Tuan, Rocky S

    2016-09-01

    Limb congenital defects afflict approximately 0.6:1000 live births. In addition to genetic factors, prenatal exposure to drugs and environmental toxicants, represents a major contributing factor to limb defects. Examples of well-recognized limb teratogenic agents include thalidomide, warfarin, valproic acid, misoprostol, and phenytoin. While the mechanism by which these agents cause dymorphogenesis is increasingly clear, prediction of the limb teratogenicity of many thousands of as yet uncharacterized environmental factors (pollutants) remains inexact. This is limited by the insufficiencies of currently available models. Specifically, in vivo approaches using guideline animal models have inherently deficient predictive power due to genomic and anatomic differences that complicate mechanistic comparisons. On the other hand, in vitro two-dimensional (2D) cell cultures, while accessible for cellular and molecular experimentation, do not reflect the three-dimensional (3D) morphogenetic events in vivo nor systemic influences. More robust and accessible models based on human cells that accurately replicate specific processes of embryonic limb development are needed to enhance limb teratogenesis prediction and to permit mechanistic analysis of the adverse outcome pathways. Recent advances in elucidating mechanisms of normal development will aid in the development of process-specific 3D cell cultures within specialized bioreactors to support multicellular microtissues or organoid constructs that will lead to increased understanding of cell functions, cell-to-cell signaling, pathway networks, and mechanisms of toxicity. The promise is prompting researchers to look to such 3D microphysiological systems to help sort out complex and often subtle interactions relevant to developmental malformations that would not be evident by standard 2D cell culture testing. Birth Defects Research (Part C) 108:243-273, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  2. Defective Resensitization in Human Airway Smooth Muscle Cells Evokes β-Adrenergic Receptor Dysfunction in Severe Asthma.

    Directory of Open Access Journals (Sweden)

    Manveen K Gupta

    Full Text Available β2-adrenergic receptor (β2AR agonists (β2-agonist are the most commonly used therapy for acute relief in asthma, but chronic use of these bronchodilators paradoxically exacerbates airway hyper-responsiveness. Activation of βARs by β-agonist leads to desensitization (inactivation by phosphorylation through G-protein coupled receptor kinases (GRKs which mediate β-arrestin binding and βAR internalization. Resensitization occurs by dephosphorylation of the endosomal βARs which recycle back to the plasma membrane as agonist-ready receptors. To determine whether the loss in β-agonist response in asthma is due to altered βAR desensitization and/or resensitization, we used primary human airway smooth muscle cells (HASMCs isolated from the lungs of non-asthmatic and fatal-asthmatic subjects. Asthmatic HASMCs have diminished adenylyl cyclase activity and cAMP response to β-agonist as compared to non-asthmatic HASMCs. Confocal microscopy showed significant accumulation of phosphorylated β2ARs in asthmatic HASMCs. Systematic analysis of desensitization components including GRKs and β-arrestin showed no appreciable differences between asthmatic and non-asthmatic HASMCs. However, asthmatic HASMC showed significant increase in PI3Kγ activity and was associated with reduction in PP2A activity. Since reduction in PP2A activity could alter receptor resensitization, endosomal fractions were isolated to assess the agonist ready β2ARs as a measure of resensitization. Despite significant accumulation of β2ARs in the endosomes of asthmatic HASMCs, endosomal β2ARs cannot robustly activate adenylyl cyclase. Furthermore, endosomes from asthmatic HASMCs are associated with significant increase in PI3Kγ and reduced PP2A activity that inhibits β2AR resensitization. Our study shows that resensitization, a process considered to be a homeostasis maintaining passive process is inhibited in asthmatic HASMCs contributing to β2AR dysfunction which may underlie

  3. Planned hospital birth versus planned home birth

    DEFF Research Database (Denmark)

    Olsen, O.; Clausen, J.A.

    2012-01-01

    Observational studies of increasingly better quality and in different settings suggest that planned home birth in many places can be as safe as planned hospital birth and with less intervention and fewer complications. This is an update of a Cochrane review first published in 1998....

  4. [Effects of human amniotic epithelial stem cells-derived exosomes on healing of wound with full-thickness skin defect in rats].

    Science.gov (United States)

    Zhao, B; Wu, G F; Zhang, Y J; Zhang, W; Yang, F F; Xiao, D; Zeng, K X; Shi, J H; Su, L L; Hu, D H

    2017-01-20

    Objective: To investigate the effects of human amniotic epithelial stem cells-derived exosomes on healing of wound with full-thickness skin defect in rats. Methods: (1) Human amniotic epithelial stem cells were isolated from the amnion tissue of 5 full-term pregnant women in Department of Obstetrics of our hospital by the method of trypsin digestion, and their morphology was observed. The third passage of cells were stained with rhodamine-phalloidin for cytoskeleton observation. The third passage of cells were identified with flow cytometry through the detection of expressions of cell surface markers CD29, CD31, CD34, CD90, CD105, SSEA3, SSEA4 and immunity-related marker human leukocyte antigen-D related site (HLA-DR). The third passage of cells were also assessed the ability of adipogenic and osteogenic differentiation. (2) The third passage of human amniotic epithelial stem cells were cultured in DMEM medium supplemented with 10% exosome-free fetal bovine serum. Exosomes were isolated from culture supernatant by the method of ultracentrifugation and represented with scanning electron microscope for morphologic observation. (3) Six adult SD rats were anesthetized, and four 1 cm×1 cm sized wounds with full-thickness skin defect were made on the back of each rat. The wounds on the back of each rat were divided into control group, 25 μg/mL exosomes group, 50 μg/mL exosomes group, and 100 μg/mL exosomes group according to the random number table (with 6 wounds in each group), and a total volume of 100 μL phosphate buffered saline, 25 μg/mL exosomes, 50 μg/mL exosomes, and 100 μg/mL exosomes were evenly injected around the wound through multiple subcutaneous sites, respectively. The wound healing rate was calculated based on measurement on post injury day (PID) 7, 14, and 21. On PID 21, the healed wound tissue of each group was collected and stained with HE to observe and count skin accessories, and the arrangement of collagen fibers was observed with Masson

  5. Defective human T-cell lymphotropic virus type I (HTLV-I) provirus in seronegative tropical spastic paraparesis/HTLV-I-associated myelopathy (TSP/HAM) patients.

    Science.gov (United States)

    Ramirez, E; Fernandez, J; Cartier, L; Villota, C; Rios, M

    2003-02-01

    Infection with human T-cell lymphotropic virus type I (HTLV-I) have been associated with the development of the tropical spastic paraparesis/HTLV-I-associated myelopathy (TSP/HAM). We studied the presence of HTLV-I provirus in peripheral blood mononuclear cells (PBMC) from 72 Chilean patients with progressive spastic paraparesis by polymerase chain reaction: 32 seropositive and 40 seronegative cases. We amplified different genomic regions of HTLV-I using primers of 5' ltr, tax, env/tax, pX, pol and env genes. These genes were detected from all seropositive patients. The seronegative patients were negative with 5' ltr, pol, env, and pX primers. However, amplified product of tax and env/tax genes was detected from 16 and four seronegative patients, respectively. Three of them were positive with both genetic regions. The results of this study show that the complete HTLV-I provirus is found in 100% of seropositive cases. In seronegative cases, clinically very similar of seropositive cases, was found only tax gene in 42.5% (17/40) of patients. These results suggest the presence of a defective HTLV-I provirus in some seronegative patients with progressive spastic paraparesis, and suggest a pathogenic role of this truncate provirus for a group of TSP/HAM.

  6. Facilitating home birth.

    Science.gov (United States)

    Finigan, Valerie; Chadderton, Diane

    2015-06-01

    The birth of a baby is a family experience. However, in the United Kingdom birth often occurs outside the family environment, in hospital. Both home and hospital births have risks and benefits, but research shows that, for most women, it is as safe to give birth at home as it is in hospital. Women report home-birth to be satisfying with lowered risks of intervention and less likelihood of being separated from their family. It is also more cost effective for the National Health Service. Yet, whilst midwives are working hard to promote home birth as an option, it remains controversial. The aim of this paper is to raise awareness of the safety of home birth and the needs of women and midwives when a home birth is chosen. It provides an overview of care required and the role of the midwife in the ensuring care is woman-centred and personalised.

  7. Birth Control Shot

    Science.gov (United States)

    ... Health Food & Fitness Diseases & Conditions Infections Drugs & Alcohol School & Jobs Sports Expert Answers (Q&A) Staying Safe Videos for Educators Search English Español Birth Control Shot KidsHealth / For Teens / Birth Control Shot What's ...

  8. Birth Control Ring

    Science.gov (United States)

    ... Health Food & Fitness Diseases & Conditions Infections Drugs & Alcohol School & Jobs Sports Expert Answers (Q&A) Staying Safe Videos for Educators Search English Español Birth Control Ring KidsHealth / For Teens / Birth Control Ring What's ...

  9. Birth Control Pill

    Science.gov (United States)

    ... Health Food & Fitness Diseases & Conditions Infections Drugs & Alcohol School & Jobs Sports Expert Answers (Q&A) Staying Safe Videos for Educators Search English Español Birth Control Pill KidsHealth / For Teens / Birth Control Pill What's ...

  10. Birth Control Patch

    Science.gov (United States)

    ... Health Food & Fitness Diseases & Conditions Infections Drugs & Alcohol School & Jobs Sports Expert Answers (Q&A) Staying Safe Videos for Educators Search English Español Birth Control Patch KidsHealth / For Teens / Birth Control Patch What's ...

  11. Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations

    Directory of Open Access Journals (Sweden)

    Timothy J. Bauler

    2011-03-01

    SHP-2 (encoded by PTPN11 is a ubiquitously expressed protein tyrosine phosphatase required for signal transduction by multiple different cell surface receptors. Humans with germline SHP-2 mutations develop Noonan syndrome or LEOPARD syndrome, which are characterized by cardiovascular, neurological and skeletal abnormalities. To study how SHP-2 regulates tissue homeostasis in normal adults, we used a conditional SHP-2 mouse mutant in which loss of expression of SHP-2 was induced in multiple tissues in response to drug administration. Induced deletion of SHP-2 resulted in impaired hematopoiesis, weight loss and lethality. Most strikingly, induced SHP-2-deficient mice developed severe skeletal abnormalities, including kyphoses and scolioses of the spine. Skeletal malformations were associated with alterations in cartilage and a marked increase in trabecular bone mass. Osteoclasts were essentially absent from the bones of SHP-2-deficient mice, thus accounting for the osteopetrotic phenotype. Studies in vitro revealed that osteoclastogenesis that was stimulated by macrophage colony-stimulating factor (M-CSF and receptor activator of nuclear factor kappa B ligand (RANKL was defective in SHP-2-deficient mice. At least in part, this was explained by a requirement for SHP-2 in M-CSF-induced activation of the pro-survival protein kinase AKT in hematopoietic precursor cells. These findings illustrate an essential role for SHP-2 in skeletal growth and remodeling in adults, and reveal some of the cellular and molecular mechanisms involved. The model is predicted to be of further use in understanding how SHP-2 regulates skeletal morphogenesis, which could lead to the development of novel therapies for the treatment of skeletal malformations in human patients with SHP-2 mutations.

  12. A Replication-Defective Human Type 5 Adenovirus-Based Trivalent Vaccine Confers Complete Protection against Plague in Mice and Nonhuman Primates.

    Science.gov (United States)

    Sha, Jian; Kirtley, Michelle L; Klages, Curtis; Erova, Tatiana E; Telepnev, Maxim; Ponnusamy, Duraisamy; Fitts, Eric C; Baze, Wallace B; Sivasubramani, Satheesh K; Lawrence, William S; Patrikeev, Igor; Peel, Jennifer E; Andersson, Jourdan A; Kozlova, Elena V; Tiner, Bethany L; Peterson, Johnny W; McWilliams, David; Patel, Snehal; Rothe, Eric; Motin, Vladimir L; Chopra, Ashok K

    2016-07-01

    Currently, no plague vaccine exists in the United States for human use. The capsular antigen (Caf1 or F1) and two type 3 secretion system (T3SS) components, the low-calcium-response V antigen (LcrV) and the needle protein YscF, represent protective antigens of Yersinia pestis We used a replication-defective human type 5 adenovirus (Ad5) vector and constructed recombinant monovalent and trivalent vaccines (rAd5-LcrV and rAd5-YFV) that expressed either the codon-optimized lcrV or the fusion gene designated YFV (consisting of ycsF, caf1, and lcrV). Immunization of mice with the trivalent rAd5-YFV vaccine by either the intramuscular (i.m.) or the intranasal (i.n.) route provided protection superior to that with the monovalent rAd5-LcrV vaccine against bubonic and pneumonic plague when animals were challenged with Y. pestis CO92. Preexisting adenoviral immunity did not diminish the protective response, and the protection was always higher when mice were administered one i.n. dose of the trivalent vaccine (priming) followed by a single i.m. booster dose of the purified YFV antigen. Immunization of cynomolgus macaques with the trivalent rAd5-YFV vaccine by the prime-boost strategy provided 100% protection against a stringent aerosol challenge dose of CO92 to animals that had preexisting adenoviral immunity. The vaccinated and challenged macaques had no signs of disease, and the invading pathogen rapidly cleared with no histopathological lesions. This is the first report showing the efficacy of an adenovirus-vectored trivalent vaccine against pneumonic plague in mouse and nonhuman primate (NHP) models. Copyright © 2016, American Society for Microbiology. All Rights Reserved.

  13. Poly(lactic-co-glycolide) polymer constructs cross-linked with human BMP-6 and VEGF protein significantly enhance rat mandible defect repair.

    Science.gov (United States)

    Das, Anusuya; Fishero, Brian A; Christophel, J Jared; Li, Ching-Ju; Kohli, Nikita; Lin, Yong; Dighe, Abhijit S; Cui, Quanjun

    2016-04-01

    We have previously shown that the combined delivery of mesenchymal stem cells (MSCs), vascular endothelial growth factor (VEGF) and bone morphogenetic protein 6 (BMP-6) induces significantly more bone formation than that induced by the delivery of any single factor or a combination of any two factors. We now determine whether the exogenous addition of VEGF and BMP-6 is sufficient for bone healing when MSCs are not provided. Poly(lactic-co-glycolic acid) (PLAGA) microsphere-based three-dimensional scaffolds (P) were fabricated by thermal sintering of PLAGA microspheres. The scaffolds were chemically cross-linked with 200 ng recombinant human VEGF (P(VEGF)) or BMP-6 (P(BMP-6)) or both (P(VEGF+BMP-6)) by the EDC-NHS-MES method. Release of the proteins from the scaffolds was detected for 21 days in vitro which confirmed their comparable potential to supply the proteins in vivo. The scaffolds were delivered to a critical-sized mandibular defect created in 32 Sprague Dawley rats. Significant bone regeneration was observed only in rats with P(VEGF+BMP-6) scaffolds at weeks 2, 8 and 12 as revealed by micro-computer tomography. Vascular ingrowth was higher in the P(VEGF+BMP-6) group as seen by microfil imaging than in other groups. Trichrome staining revealed that a soft callus formed in P(VEGF), P(BMP-6) and P(VEGF+BMP-6) but not in P. MSCs isolated from rat femurs displayed expression of the bone-specific marker osteocalcin when cultured with P(VEGF), P(BMP-6), or P(VEGF+BMP-6) but not with P. Robust mineralization and increased alkaline phosphatase gene expression were seen in rat MSCs when cultured on P(VEGF+BMP-6) but not on P, P(VEGF), or P(BMP-6). Thus, unlike the delivery of VEGF or BMP-6 alone, the combined delivery of VEGF and BMP-6 to the bone defect significantly enhanced bone repair through the enhancement of angiogenesis and the differentiation of endogenously recruited MSCs into the bone repair site.

  14. Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan

    Science.gov (United States)

    Watanabe, Hideto; Nakata, Ken; Kimata, Koji; Nakanishi, Isao; Yamada, Yoshihiko

    1997-01-01

    Mouse cartilage matrix deficiency (cmd) is an autosomal recessive disorder caused by a genetic defect of aggrecan, a large chondroitin sulfate proteoglycan in cartilage. The homozygotes (−/−) are characterized by cleft palate and short limbs, tail, and snout. They die just after birth because of respiratory failure, and the heterozygotes (+/−) appear normal at birth. Here we report that the heterozygotes show dwarfism and develop spinal misalignment with age. Within 19 months of age, they exhibit spastic gait caused by misalignment of the cervical spine and die because of starvation. Histological examination revealed a high incidence of herniation and degeneration of vertebral discs. Electron microscopy showed a degeneration of disc chondrocytes in the heterozygotes. These findings may facilitate the identification of mutations in humans predisposed to spinal degeneration. PMID:9192671

  15. Automatic classification of blank substrate defects

    Science.gov (United States)

    Boettiger, Tom; Buck, Peter; Paninjath, Sankaranarayanan; Pereira, Mark; Ronald, Rob; Rost, Dan; Samir, Bhamidipati

    2014-10-01

    Mask preparation stages are crucial in mask manufacturing, since this mask is to later act as a template for considerable number of dies on wafer. Defects on the initial blank substrate, and subsequent cleaned and coated substrates, can have a profound impact on the usability of the finished mask. This emphasizes the need for early and accurate identification of blank substrate defects and the risk they pose to the patterned reticle. While Automatic Defect Classification (ADC) is a well-developed technology for inspection and analysis of defects on patterned wafers and masks in the semiconductors industry, ADC for mask blanks is still in the early stages of adoption and development. Calibre ADC is a powerful analysis tool for fast, accurate, consistent and automatic classification of defects on mask blanks. Accurate, automated classification of mask blanks leads to better usability of blanks by enabling defect avoidance technologies during mask writing. Detailed information on blank defects can help to select appropriate job-decks to be written on the mask by defect avoidance tools [1][4][5]. Smart algorithms separate critical defects from the potentially large number of non-critical defects or false defects detected at various stages during mask blank preparation. Mechanisms used by Calibre ADC to identify and characterize defects include defect location and size, signal polarity (dark, bright) in both transmitted and reflected review images, distinguishing defect signals from background noise in defect images. The Calibre ADC engine then uses a decision tree to translate this information into a defect classification code. Using this automated process improves classification accuracy, repeatability and speed, while avoiding the subjectivity of human judgment compared to the alternative of manual defect classification by trained personnel [2]. This paper focuses on the results from the evaluation of Automatic Defect Classification (ADC) product at MP Mask

  16. Saving lives at birth

    DEFF Research Database (Denmark)

    Daysal, N. Meltem; Trandafir, Mircea; van Ewijk, Reyn

    2015-01-01

    Many developed countries have recently experienced sharp increases in home birth rates. This paper investigates the impact of home births on the health of low-risk newborns using data from the Netherlands, the only developed country where home births are widespread. To account for endogeneity...... in location of birth, we exploit the exogenous variation in distance from a mother’s residence to the closest hospital. We find that giving birth in a hospital leads to substantial reductions in newborn mortality. We provide suggestive evidence that proximity to medical technologies may be an important...

  17. Loss of cannabinoid receptor CB1 induces preterm birth.

    Directory of Open Access Journals (Sweden)

    Haibin Wang

    2008-10-01

    Full Text Available Preterm birth accounting approximate 10% of pregnancies in women is a tremendous social, clinical and economic burden. However, its underlying causes remain largely unknown. Emerging evidence suggests that endocannabinoid signaling via cannabinoid receptor CB1 play critical roles in multiple early pregnancy events in both animals and humans. Since our previous studies demonstrated that loss of CB1 defers the normal implantation window in mice, we surmised that CB1 deficiency would influence parturition events.Exploiting mouse models with targeted deletion of Cnr1, Cnr2 and Ptgs1 encoding CB1, CB2 and cyclooxygenase-1, respectively, we examined consequences of CB1 or CB2 silencing on the onset of parturition. We observed that genetic or pharmacological inactivation of CB1, but not CB2, induced preterm labor in mice. Radioimmunoassay analysis of circulating levels of ovarian steroid hormones revealed that premature birth resulting from CB1 inactivation is correlated with altered progesterone/estrogen ratios prior to parturition. More strikingly, the phenotypic defects of prolonged pregnancy length and parturition failure in mice missing Ptgs1 were corrected by introducing CB1 deficiency into Ptgs1 null mice. In addition, loss of CB1 resulted in aberrant secretions of corticotrophin-releasing hormone and corticosterone during late gestation. The pathophysiological significance of this altered corticotrophin-releasing hormone-driven endocrine activity in the absence of CB1 was evident from our subsequent findings that a selective corticotrophin-releasing hormone antagonist was able to restore the normal parturition timing in Cnr1 deficient mice. In contrast, wild-type females receiving excessive levels of corticosterone induced preterm birth.CB1 deficiency altering normal progesterone and estrogen levels induces preterm birth in mice. This defect is independent of prostaglandins produced by cyclooxygenase-1. Moreover, CB1 inactivation resulted in

  18. Exposure to brominated flame retardants, perfluorinated compounds, phthalates and phenols in European birth cohorts: ENRIECO evaluation, first human biomonitoring results, and recommendations

    NARCIS (Netherlands)

    Casas, M.; Chevrier, C.; Hond, E.D.; Fernandez, M.F.; Pierik, F.; Philippat, C.; Slama, R.; Toft, G.; Vandentorren, S.; Wilhelm, M.; Vrijheid, M.

    2013-01-01

    There are emerging concerns about potential effects on child health and development of early-life exposure to substances such as brominated flame retardants (BFRs), perfluorinated compounds (PFCs), phthalates and phenols (including bisphenol A (BPA)); pregnancy and birth cohort studies are ideally

  19. Prevalence at birth of congenital malformations in communities near the Hanford site

    International Nuclear Information System (INIS)

    Sever, L.E.; Hessol, N.A.; Gilbert, E.S.; McIntyre, J.M.

    1988-01-01

    The authors examined the prevalence of congenital malformations among births in Benton and Franklin counties, in southeastern Washington State, from 1968 through 1980. The Hanford Site is in this area and serves as a major employer. In addition, various agriculturally and chemically related activities are in the area. Hospital and vital records were used to identify 454 malformation cases among 23,319 births; this yielded a malformation rate of 19.6 per 1000 births, a rate similar to those reported in other studies. The rates of specific malformations ascertained during the first year of life were compared with combined rates from the states of Washington, Oregon, and Idaho from the Birth Defects Monitoring Program. Among defects that would be expected to be comparably ascertained, a statistically significant elevated rate of neural tube defects was observed (1.72 per 1000 births vs. 0.99 per 1000). Rates of cleft lip were significantly lower in Benton and Franklin counties than in the Birth Defects Monitoring Program (0.59 per 1,000 vs. 1.17 per 1000). For congenital heart defects, pyloric stenosis, and Down syndrome, which are often not diagnosed in the newborn period, Birth Defects Monitoring Program data did not offer appropriate comparisons. The rates of these defects did not appear to be elevated in relation to rates found in other relevant populations. When rates of neural tube defects were compared with those in populations other than the Birth Defects Monitoring Program, the Benton and Franklin county rates were still considered to be elevated. The increased bicounty rate cannot be explained by employment of the parents at Hanford or by the impact of plant emissions on the local population

  20. Planned place of birth

    DEFF Research Database (Denmark)

    Overgaard, Charlotte; Coxon, Kirstie; Stewart, Mary

    Title Planned place of birth: issues of choice, access and equity. Outline In Northern European countries, giving birth is generally safe for healthy women with uncomplicated pregnancies, and their babies. However, place of birth can affect women’s outcomes and experiences of birth. Whilst tertiary...... countries, maternity care is provided free to women, through public financing of health care; universal access to care is therefore secured. Nevertheless, different models of care exist, and debates about the appropriateness of providing maternity care in different settings take place in both countries...... in Denmark Coxon K et al: Planned place of birth in England: perceptions of accessing obstetric units, midwife led units and home birth amongst women and their partners. How these papers interrelate These papers draw upon recent research in maternity care, undertaken in Denmark and in England. In both...

  1. Human Chorionic Gonadotropin Has Anti-Inflammatory Effects at the Maternal-Fetal Interface and Prevents Endotoxin-Induced Preterm Birth, but Causes Dystocia and Fetal Compromise in Mice1

    Science.gov (United States)

    Furcron, Amy-Eunice; Romero, Roberto; Mial, Tara N.; Balancio, Amapola; Panaitescu, Bogdan; Hassan, Sonia S.; Sahi, Aashna; Nord, Claire; Gomez-Lopez, Nardhy

    2016-01-01

    Human chorionic gonadotropin (hCG) is implicated in the maintenance of uterine quiescence by down-regulating myometrial gap junctions during pregnancy, and it was considered as a strategy to prevent preterm birth after the occurrence of preterm labor. However, the effect of hCG on innate and adaptive immune cells implicated in parturition is poorly understood. Herein, we investigated the immune effects of hCG at the maternal-fetal interface during late gestation, and whether this hormone can safely prevent endotoxin-induced preterm birth. Using immunophenotyping, we demonstrated that hCG has immune effects at the maternal-fetal interface (decidual tissues) by: 1) increasing the proportion of regulatory T cells; 2) reducing the proportion of macrophages and neutrophils; 3) inducing an M1 → M2 macrophage polarization; and 4) increasing the proportion of T helper 17 cells. Next, ELISAs were used to determine whether the local immune changes were associated with systemic concentrations of progesterone, estradiol, and/or cytokines (IFNgamma, IL1beta, IL2, IL4, IL5, IL6, IL10, IL12p70, KC/GRO, and TNFalpha). Plasma concentrations of IL1beta, but not progesterone, estradiol, or any other cytokine, were increased following hCG administration. Pretreatment with hCG prevented endotoxin-induced preterm birth by 44%, proving the effectiveness of this hormone as an anti-inflammatory agent. However, hCG administration alone caused dystocia and fetal compromise, as proven by Doppler ultrasound. These results provide insight into the mechanisms whereby hCG induces an anti-inflammatory microenvironment at the maternal-fetal interface during late gestation, and demonstrate its effectiveness in preventing preterm labor/birth. However, the deleterious effects of this hormone on mothers and fetuses warrant caution. PMID:27146032

  2. Triggering of final oocyte maturation with gonadotropin-releasing hormone agonist or human chorionic gonadotropin. Live birth after frozen-thawed embryo replacement cycles

    DEFF Research Database (Denmark)

    Griesinger, Georg; Kolibianakis, E M; Papanikolaou, E G

    2007-01-01

    OBJECTIVE: To report the outcome of frozen-thawed embryo replacement cycles after GnRH-agonist triggering of final oocyte maturation in the collecting cycle with GnRH-antagonist. DESIGN: Prospective, observational, multicentric clinical study. SETTING: Tertiary university-affiliated IVF centers...... a total of 228 participants. Surplus embryos or oocytes at the pronuclear stage were cryopreserved in 53 patients after hCG administration and 32 patients after GnRH-agonist administration on the basis of patient choice, pronuclear/embryo availability, and local laws. INTERVENTION(S): Transfer of frozen......-thawed embryos. MAIN OUTCOME MEASURE(S): Live birth rate. RESULT(S): Thirty-one and 23 patients after administration of hCG and GnRH-agonist, respectively, started a frozen-embryo replacement cycle by September 2005, with 25 and 16 patients eventually undergoing at least one frozen-thawed ET. Live birth rate per...

  3. Association between preterm birth and its subtypes and maternal sociodemographic characteristics during the post-transitional phase in a developing country with a very high human development index.

    Science.gov (United States)

    Araya, B M; Díaz, M; Paredes, D; Ortiz, J

    2017-06-01

    Chile is a post-transitional country evolving towards a stationary population pyramid, which may be associated with increasing preterm birth (PTB) rates. This study aimed to compare maternal sociodemographic characteristics between the start of the post-transition phase (1994) and an established stage (2013) and to evaluate associations between these characteristics and PTB. An observational analytic design was conducted using national birth records (n = 4,956,311). Variables analysed in the 20 birth cohorts from 1994 to 2013 were: length of gestation (preterm 35 years); education level (12 years of education); employment; marital status; area of residence; and type of birth (singleton, twins, and triplets or higher order). The prevalence of PTB was expressed as a percentage, and associations between PTB and predictor variables were analysed using logistic regression models. Education level, age >35 years, maternal employment, unmarried status, twin delivery and urban residency rates increased between 1994 and 2013. According to the adjusted models, age >35 years and delivery of more than two foetuses were risk factors for all PTB subtypes. Maternal employment was a risk factor for moderate/severe, late and total PTB, and a low level of education was a risk factor for late and total PTB. On the other hand, age ≤19 years was protective against all PTB subtypes. All maternal characteristics changed between 1994 and 2013. Furthermore, the prevalence of PTB increased for all predictor variables studied over this period. Copyright © 2017 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.

  4. How Do Health Care Providers Diagnose Birth Defects?

    Science.gov (United States)

    ... how eye loss occurs in blind cavefish Podcast: DNA Day: Battling Brittle Bone Disease Media Advisory: NIH researchers find a ... OUTREACH Safe to Sleep® National Child & Maternal Health Education Program RELATED WEBSITES ...

  5. Evaluating alcohol related birth defects in the past

    DEFF Research Database (Denmark)

    Shuler, Kristrina A.; Schroeder, Hannes

    2013-01-01

    -wide consumption of lead-tainted rum by enslaved Africans. Skeletons excavated in 1997-1998 (n= 45) were examined for congenital anomalies, using clinical/experimental descriptions to differentially diagnose possible ARBD. Enamel lead data served as a proxy for developmental exposure to tainted rum in a subsample...... (n= 26). Elevated enamel lead (3.8. μg/g), vertebral synostosis, and micrognathism in one subadult fit expectations for exposure. An adult male with low enamel lead (0.3. μg/g) had congenital anomalies, but not those described with ethanol or lead exposures. Contrary to expectations, we did...... not identify ARBD in most individuals, including those with isotopic signatures of Barbadian origin who also showed consistently elevated dental lead levels. We discuss how such patterns may have emerged from timing of exposures and colonial medical practices, but underreporting remains a likely concern...

  6. Birth Characteristics and Childhood Leukemia Risk: Correlations With Genetic Markers.

    Science.gov (United States)

    Kennedy, Amy E; Kamdar, Kala Y; Lupo, Philip J; Okcu, Mehmet F; Scheurer, Michael E; Dorak, Mehmet T

    2015-07-01

    Birth characteristics such as birth order, birth weight, birth defects, and Down syndrome showed some of the first risk associations with childhood leukemia. Examinations of correlations between birth characteristics and leukemia risk markers have been limited to birth weight-related genetic polymorphisms. We integrated information on nongenetic and genetic markers by evaluating the relationship of birth characteristics, genetic markers for childhood acute lymphoblastic leukemia (ALL) susceptibility, and ALL risk together. The multiethnic study consisted of cases with childhood ALL (n=161) and healthy controls (n=261). Birth characteristic data were collected through questionnaires, and genotyping was achieved by TaqMan SNP Genotyping Assays. We observed risk associations for birth weight over 4000 g (odds ratios [OR]=1.93; 95% confidence interval [CI], 1.16-3.19), birth length (OR=1.18 per inch; 95% CI, 1.01-1.38), and with gestational age (OR=1.10 per week; 95% CI, 1.00-1.21). Only the HFE tag single-nucleotide polymorphism (SNP) rs9366637 showed an inverse correlation with a birth characteristic, gestational age, with a gene-dosage effect (P=0.005), and in interaction with a transferrin receptor rs3817672 genotype (Pinteraction=0.05). This correlation translated into a strong association for rs9366637 with preterm birth (OR=5.0; 95% CI, 1.19-20.9). Our study provides evidence for the involvement of prenatal events in the development of childhood ALL. The inverse correlation of rs9366637 with gestational age has implications on the design of HFE association studies in birth weight and childhood conditions using full-term newborns as controls.

  7. From institutionalized birth to home birth

    Directory of Open Access Journals (Sweden)

    Clara Fróes de Oliveira Sanfelice

    2014-06-01

    Full Text Available The study aimed to describe the experiences of a group of nurse-midwives from the city of Campinas, SP, Brasil, regarding the transition process from attending institutionalized births to attending home births, in the period 2011 – 2013. The study is of the experience report type; the reflections, perceptions and challenges experienced in this process were collected using the technique of brainstorming. Content analysis, as proposed by Bardin, was used, which yielded four thematic categories: a the hospital experience; b living with obstetric violence; c returning home and d the challenges of home care. It is concluded that attending home births offers greater satisfaction to the nurses, even in the face of various obstacles, as it is possible to offer a care to the woman and new-born which covers both the concept of comprehensiveness and the current scientific recommendations.

  8. Safety and immunogenicity of RV3-BB human neonatal rotavirus vaccine administered at birth or in infancy: a randomised, double-blind, placebo-controlled trial.

    Science.gov (United States)

    Bines, Julie E; Danchin, Margaret; Jackson, Pamela; Handley, Amanda; Watts, Emma; Lee, Katherine J; West, Amanda; Cowley, Daniel; Chen, Mee-Yew; Barnes, Graeme L; Justice, Frances; Buttery, Jim P; Carlin, John B; Bishop, Ruth F; Taylor, Barry; Kirkwood, Carl D

    2015-12-01

    Despite the success of rotavirus vaccines, suboptimal vaccine efficacy in regions with a high burden of disease continues to present a challenge to worldwide implementation. A birth dose strategy with a vaccine developed from an asymptomatic neonatal rotavirus strain has the potential to address this challenge and provide protection from severe rotavirus disease from birth. This phase 2a randomised, double-blind, three-arm, placebo-controlled safety and immunogenicity trial was undertaken at a single centre in New Zealand between Jan 13, 2012, and April 17, 2014. Healthy, full-term (≥36 weeks gestation) babies, who weighed at least 2500 g, and were 0-5 days old at the time of randomisation were randomly assigned (1:1:1; computer-generated; telephone central allocation) according to a concealed block randomisation schedule to oral RV3-BB vaccine with the first dose given at 0-5 days after birth (neonatal schedule), to vaccine with the first dose given at about 8 weeks after birth (infant schedule), or to placebo. The primary endpoint was cumulative vaccine take (serum immune response or stool shedding of vaccine virus after any dose) after three doses. The immunogenicity analysis included all randomised participants with available outcome data. This trial is registered with the Australian New Zealand Clinical Trials Registry, ACTRN12611001212943. 95 eligible participants were randomised, of whom 89 were included in the primary analysis. A cumulative vaccine take was detected in 27 (90%) of 30 participants in the neonatal schedule group after three doses of RV3-BB vaccine compared with four (13%) of 32 participants in the placebo group (difference in proportions 0·78, 95% CI 0·55-0·88; pvaccine take after three doses compared with eight (25%) of 32 participants in the placebo group (difference in proportions 0·68, 0·44-0·81; pvaccine was not associated with an increased frequency of fever or gastrointestinal symptoms compared with placebo. RV3-BB vaccine was

  9. Three-dimensional printed PLA scaffold and human gingival stem cell-derived extracellular vesicles: a new tool for bone defect repair.

    Science.gov (United States)

    Diomede, Francesca; Gugliandolo, Agnese; Cardelli, Paolo; Merciaro, Ilaria; Ettorre, Valeria; Traini, Tonino; Bedini, Rossella; Scionti, Domenico; Bramanti, Alessia; Nanci, Antonio; Caputi, Sergio; Fontana, Antonella; Mazzon, Emanuela; Trubiani, Oriana

    2018-04-13

    The role of bone tissue engineering in the field of regenerative medicine has been a main research topic over the past few years. There has been much interest in the use of three-dimensional (3D) engineered scaffolds (PLA) complexed with human gingival mesenchymal stem cells (hGMSCs) as a new therapeutic strategy to improve bone tissue regeneration. These devices can mimic a more favorable endogenous microenvironment for cells in vivo by providing 3D substrates which are able to support cell survival, proliferation and differentiation. The present study evaluated the in vitro and in vivo capability of bone defect regeneration of 3D PLA, hGMSCs, extracellular vesicles (EVs), or polyethyleneimine (PEI)-engineered EVs (PEI-EVs) in the following experimental groups: 3D-PLA, 3D-PLA + hGMSCs, 3D-PLA + EVs, 3D-PLA + EVs + hGMSCs, 3D-PLA + PEI-EVs, 3D-PLA + PEI-EVs + hGMSCs. The structural parameters of the scaffold were evaluated using both scanning electron microscopy and nondestructive microcomputed tomography. Nanotopographic surface features were investigated by means of atomic force microscopy. Scaffolds showed a statistically significant mass loss along the 112-day evaluation. Our in vitro results revealed that both 3D-PLA + EVs + hGMSCs and 3D-PLA + PEI-EVs + hGMSCs showed no cytotoxicity. However, 3D-PLA + PEI-EVs + hGMSCs exhibited greater osteogenic inductivity as revealed by morphological evaluation and transcriptomic analysis performed by next-generation sequencing (NGS). In addition, in vivo results showed that 3D-PLA + PEI-EVs + hGMSCs and 3D-PLA + PEI-EVs scaffolds implanted in rats subjected to cortical calvaria bone tissue damage were able to improve bone healing by showing better osteogenic properties. These results were supported also by computed tomography evaluation that revealed the repair of bone calvaria damage. The re-establishing of the integrity of the bone lesions could be a

  10. Detection of paint polishing defects

    Science.gov (United States)

    Rebeggiani, S.; Wagner, M.; Mazal, J.; Rosén, B.-G.; Dahlén, M.

    2018-06-01

    Surface finish plays a major role on perceived product quality, and is the first thing a potential buyer sees. Today end-of-line repairs of the body of cars and trucks are inevitably to secure required surface quality. Defects that occur in the paint shop, like dust particles, are eliminated by manual sanding/polishing which lead to other types of defects when the last polishing step is not performed correctly or not fully completed. One of those defects is known as ‘polishing roses’ or holograms, which are incredibly hard to detect in artificial light but are clearly visible in sunlight. This paper will present the first tests with a measurement set-up newly developed to measure and analyse polishing roses. The results showed good correlations to human visual evaluations where repaired panels were estimated based on the defects’ intensity, severity and viewing angle.

  11. Inactivation of Zika virus in human breast milk by prolonged storage or pasteurization

    OpenAIRE

    Pfaender, Stephanie; Vielle, Nathalie J.; Ebert, Nadine; Steinmann, Eike; Alves, Marco P.; Thiel, Volker

    2017-01-01

    Zika virus infection during pregnancy poses a serious risk for pregnant women as it can cause severe birth defects. Even though the virus is mainly transmitted via mosquitos, human-to-human transmission has been described. Infectious viral particles have been detected in breast milk of infected women which raised concerns regarding the safety of breastfeeding in areas of Zika virus transmission or in case of a suspected or confirmed Zika virus infection. In this study, we show that Zika virus...

  12. Elizabeth Belle's Birth Story.

    Science.gov (United States)

    Boro, Jessica; Boro, Samuel

    2014-01-01

    In this article, Jessica and Samuel Boro share the story of the birth of their daughter, Elizabeth Belle. With the physical and emotional support of her husband and her doula, this mother was able to cope with a long labor and have the natural birth she wanted. Her husband describes how important the doula was for him.

  13. Accredited Birth Centers

    Science.gov (United States)

    ... Danbury, CT 06810 203-748-6000 Accredited Since March 1998 Corvallis Birth & Women's Health Center Accredited 2314 NW Kings Blvd, Suite ... Washington, DC 20002 202-398-5520 Accredited Since March 2001 Flagstaff Birth and Women's Center Accredited 401 West Aspen Avenue Flagstaff, AZ ...

  14. Narcissism and birth order.

    Science.gov (United States)

    Eyring, W E; Sobelman, S

    1996-04-01

    The purpose of this investigation was to clarify the relationship between birth-order position and the development of narcissism, while refining research and theory. The relationship between birth-order status and narcissism was examined with a sample of 79 undergraduate students (55 women and 24 men). These subjects were placed in one of the four following birth-order categories of firstborn, second-born, last-born, and only children. These categories were chosen given their significance in Adlerian theory. Each subject completed the Narcissistic Personality Inventory and a demographic inventory. Based on psychodynamic theory, it was hypothesized that firstborn children were expected to score highest, but statistical significance was not found for an association between narcissism and birth order. Further research is urged to investigate personality theory as it relates to parenting style and birth order.

  15. Maternal alcohol drinking pattern during pregnancy and the risk for an offspring with an isolated congenital heart defect and in particular a ventricular septal defect or an atrial septal defect

    DEFF Research Database (Denmark)

    Strandberg-Larsen, Katrine; Skov-Ettrup, Lise Skrubbeltrang; Grønbaek, Morten

    2011-01-01

    (VSD) or of an atrial septal defect (ASD). METHODS: Participants were 80,346 pregnant women who were enrolled into the Danish National Birth Cohort in 1996-2002 and gave birth to a live-born singleton without any chromosome anomalies. Twice during pregnancy these women were asked about their intake...... the early part of pregnancy was not statistical significantly associated with the prevalence of isolated VSD and ASD in offspring. Birth Defects Research (Part A), 2011. © 2011 Wiley-Liss, Inc....

  16. Engineering human cell spheroids to model embryonic tissue fusion in vitro.

    Science.gov (United States)

    Epithelial-mesenchymal interactions drive embryonic fusion events during development and upon perturbation can result in birth defects. Cleft palate and neural tube defects can result from genetic defects or environmental exposures during development, yet very little is known abo...

  17. Craniotomy Frontal Bone Defect

    African Journals Online (AJOL)

    2018-03-01

    Mar 1, 2018 ... Defect reconstruction and fixation of the graft: The defect of ... where all loose fragments of fractured frontal bone was removed via the ... Mandible. • Ilium. • Allograft ... pediatric patients owing to skull growth. Thus, autologous ...

  18. Congenital platelet function defects

    Science.gov (United States)

    ... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

  19. Surface modification of cyclic olefin copolymers for osteochondral defect repair can increase pro-destructive potential of human chondrocytes in vitro

    Czech Academy of Sciences Publication Activity Database

    Polanská, M.; Hulejová, H.; Petrtýl, M.; Bastl, Zdeněk; Spirovová, Ilona; Kruliš, Zdeněk; Horák, Zdeněk; Veigl, D.; Šenolt, L.

    2010-01-01

    Roč. 59, č. 2 (2010), s. 247-253 ISSN 0862-8408 R&D Projects: GA ČR GA106/06/0761 Institutional research plan: CEZ:AV0Z40400503; CEZ:AV0Z40500505 Keywords : osteochondral defects * cycloolefin copolymer * chondrocytes * biocompatibility Subject RIV: CF - Physical ; Theoretical Chemistry Impact factor: 1.646, year: 2010

  20. Defect of the Eyelids.

    Science.gov (United States)

    Lu, Guanning Nina; Pelton, Ron W; Humphrey, Clinton D; Kriet, John David

    2017-08-01

    Eyelid defects disrupt the complex natural form and function of the eyelids and present a surgical challenge. Detailed knowledge of eyelid anatomy is essential in evaluating a defect and composing a reconstructive plan. Numerous reconstructive techniques have been described, including primary closure, grafting, and a variety of local flaps. This article describes an updated reconstructive ladder for eyelid defects that can be used in various permutations to solve most eyelid defects. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Immobility reaction at birth in newborn infant.

    Science.gov (United States)

    Rousseau, Pierre Victor; Francotte, Jacques; Fabbricatore, Maria; Frischen, Caroline; Duchateau, Delphine; Perin, Marie; Gauthier, Jean-Marie; Lahaye, Willy

    2014-08-01

    To describe an immobility reaction (IR) that was not previously reported at or immediately after birth in human newborns. We analyzed 31 videos of normal term vaginal deliveries recorded from Time 0 of birth defined as the as the moment that lies between the birth of the thorax and the pelvis of the infant. We searched for perinatal factors associated with newborn's IR. IR at birth was observed in 8 of the 31 newborns. The main features of their behavior were immobilization, frozen face, shallow breathing and bradycardia. One of the 8 newborns had sudden collapse 2h after birth. We found significant relationships between maternal prenatal stress (PS) and IR (p=.037), and a close to significant one between infants' lividness at Time 0 and IR (p=.053). The first breath of the 31 newborns occurred before and was not associated with the first cry (psyndrome. This first report of an IR reaction at birth in human infants could open up new paths for improving early neonatal care. Further research is needed for maternal PS, stress hormones, umbilical cord blood pH measurements in IR newborns. The challenge of education and support for parents of IR newborns is outlined. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. Home birth after hospital birth: women's choices and reflections.

    Science.gov (United States)

    Bernhard, Casey; Zielinski, Ruth; Ackerson, Kelly; English, Jessica

    2014-01-01

    The number of US women choosing home birth is increasing. Little is known about women who choose home birth after having experienced hospital birth; therefore, the purpose of this research was to explore reasons why these women choose home birth and their perceptions regarding their birth experiences. Qualitative description was the research design, whereby focus groups were conducted with women who had hospital births and subsequently chose home birth. Five focus groups were conducted (N = 20), recorded, and transcribed verbatim. Qualitative content analysis was undertaken allowing themes to emerge. Five themes emerged from the women's narratives: 1) choices and empowerment: with home birth, women felt they were given real choices rather than perceived choices, giving them feelings of empowerment; 2) interventions and interruptions: women believed things were done that were not helpful to the birth process, and there were interruptions associated with their hospital births; 3) disrespect and dismissal: participants believed that during hospital birth, providers were more focused on the laboring woman's uterus, with some experiencing dismissal from their hospital provider when choosing to birth at home; 4) birth space: giving birth in their own home, surrounded by people they chose, created a peaceful and calm environment; and 5) connection: women felt connected to their providers, families, newborns, and bodies during their home birth. For most participants, dissatisfaction with hospital birth influenced their subsequent decision to choose home birth. Despite experiencing challenges associated with this decision, women expressed satisfaction with their home birth. © 2014 by the American College of Nurse-Midwives.

  3. Birth cohorts in Asia: The importance, advantages, and disadvantages of different-sized cohorts.

    Science.gov (United States)

    Kishi, Reiko; Araki, Atsuko; Minatoya, Machiko; Itoh, Sachiko; Goudarzi, Houman; Miyashita, Chihiro

    2018-02-15

    Asia contains half of the world's children, and the countries of Asia are the most rapidly industrializing nations on the globe. Environmental threats to the health of children in Asia are myriad. Several birth cohorts were started in Asia in early 2000, and currently more than 30 cohorts in 13 countries have been established for study. Cohorts can contain from approximately 100-200 to 20,000-30,000 participants. Furthermore, national cohorts targeting over 100,000 participants have been launched in Japan and Korea. The aim of this manuscript is to discuss the importance of Asian cohorts, and the advantages and disadvantages of different-sized cohorts. As for case, one small-sized (n=514) cohort indicate that even relatively low level exposure to dioxin in utero could alter birth size, neurodevelopment, and immune and hormonal functions. Several Asian cohorts focus prenatal exposure to perfluoroalkyo substances and reported associations with birth size, thyroid hormone levels, allergies and neurodevelopment. Inconsistent findings may possibly be explained by the differences in exposure levels and target chemicals, and by possible statistical errors. In a smaller cohort, novel hypotheses or preliminary examinations are more easily verifiable. In larger cohorts, the etiology of rare diseases, such as birth defects, can be analyzed; however, they require a large cost and significant human resources. Therefore, conducting studies in only one large cohort may not always be the best strategy. International collaborations, such as the Birth Cohort Consortium of Asia, would cover the inherent limitation of sample size in addition to heterogeneity of exposure, ethnicity, and socioeconomic conditions. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Point defects in solids

    International Nuclear Information System (INIS)

    Anon.

    1978-01-01

    The principal properties of point defects are studied: thermodynamics, electronic structure, interactions with etended defects, production by irradiation. Some measuring methods are presented: atomic diffusion, spectroscopic methods, diffuse scattering of neutron and X rays, positron annihilation, molecular dynamics. Then points defects in various materials are investigated: ionic crystals, oxides, semiconductor materials, metals, intermetallic compounds, carbides, nitrides [fr

  5. Fibrous metaphyseal defects

    International Nuclear Information System (INIS)

    Ritschl, P.; Hajek, P.C.; Pechmann, U.

    1989-01-01

    Sixteen patients with fibrous metaphyseal defects were examined with both plain radiography and magnetic resonance (MR) imaging. Depending on the age of the fibrous metaphyseal defects, characteristic radiomorphologic changes were found which correlated well with MR images. Following intravenous Gadolinium-DTPA injection, fibrous metaphyseal defects invariably exhibited a hyperintense border and signal enhancement. (orig./GDG)

  6. Birth control pills - progestin only

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/patientinstructions/000656.htm Birth control pills - progestin only To use the sharing features ... estrogen in them. What Are Progestin Only Birth Control Pills? Birth control pills help keep you from ...

  7. Evolution of the Birth Plan

    OpenAIRE

    Kaufman, Tamara

    2007-01-01

    Many birth professionals are discarding the birth plan as an outdated and ineffectual document. This column discusses the past limitations and present uses of the birth plan in an effort to enhance current teaching on how expectant parents can write and use this important document. Encouraging expectant parents to prepare two separate, but corresponding, birth plans—the “Discussion Birth Plan” and the “Hospital Birth Plan”—is proposed. Teaching suggestions and possible implications are explor...

  8. Allostatic Load and Preterm Birth

    Directory of Open Access Journals (Sweden)

    David M. Olson

    2015-12-01

    Full Text Available Preterm birth is a universal health problem that is one of the largest unmet medical needs contributing to the global burden of disease. Adding to its complexity is that there are no means to predict who is at risk when pregnancy begins or when women will actually deliver. Until these problems are addressed, there will be no interventions to reduce the risk because those who should be treated will not be known. Considerable evidence now exists that chronic life, generational or accumulated stress is a risk factor for preterm delivery in animal models and in women. This wear and tear on the body and mind is called allostatic load. This review explores the evidence that chronic stress contributes to preterm birth and other adverse pregnancy outcomes in animal and human studies. It explores how allostatic load can be used to, firstly, model stress and preterm birth in animal models and, secondly, how it can be used to develop a predictive model to assess relative risk among women in early pregnancy. Once care providers know who is in the highest risk group, interventions can be developed and applied to mitigate their risk.

  9. Dirichlet topological defects

    International Nuclear Information System (INIS)

    Carroll, S.M.; Trodden, M.

    1998-01-01

    We propose a class of field theories featuring solitonic solutions in which topological defects can end when they intersect other defects of equal or higher dimensionality. Such configurations may be termed open-quotes Dirichlet topological defects,close quotes in analogy with the D-branes of string theory. Our discussion focuses on defects in scalar field theories with either gauge or global symmetries, in 3+1 dimensions; the types of defects considered include walls ending on walls, strings on walls, and strings on strings. copyright 1998 The American Physical Society

  10. Synthetic Defects for Vibrothermography

    Science.gov (United States)

    Renshaw, Jeremy; Holland, Stephen D.; Thompson, R. Bruce; Eisenmann, David J.

    2010-02-01

    Synthetic defects are an important tool used for characterizing the performance of nondestructive evaluation techniques. Viscous material-filled synthetic defects were developed for use in vibrothermography (also known as sonic IR) as a tool to improve inspection accuracy and reliability. This paper describes how the heat-generation response of these VMF synthetic defects is similar to the response of real defects. It also shows how VMF defects can be applied to improve inspection accuracy for complex industrial parts and presents a study of their application in an aircraft engine stator vane.

  11. Defect production in ceramics

    Energy Technology Data Exchange (ETDEWEB)

    Zinkle, S.J. [Oak Ridge National Lab., TN (United States); Kinoshita, C. [Kyushu Univ. (Japan)

    1997-08-01

    A review is given of several important defect production and accumulation parameters for irradiated ceramics. Materials covered in this review include alumina, magnesia, spinel silicon carbide, silicon nitride, aluminum nitride and diamond. Whereas threshold displacement energies for many ceramics are known within a reasonable level of uncertainty (with notable exceptions being AIN and Si{sub 3}N{sub 4}), relatively little information exists on the equally important parameters of surviving defect fraction (defect production efficiency) and point defect migration energies for most ceramics. Very little fundamental displacement damage information is available for nitride ceramics. The role of subthreshold irradiation on defect migration and microstructural evolution is also briefly discussed.

  12. On holographic defect entropy

    International Nuclear Information System (INIS)

    Estes, John; Jensen, Kristan; O’Bannon, Andy; Tsatis, Efstratios; Wrase, Timm

    2014-01-01

    We study a number of (3+1)- and (2+1)-dimensional defect and boundary conformal field theories holographically dual to supergravity theories. In all cases the defects or boundaries are planar, and the defects are codimension-one. Using holography, we compute the entanglement entropy of a (hemi-)spherical region centered on the defect (boundary). We define defect and boundary entropies from the entanglement entropy by an appropriate background subtraction. For some (3+1)-dimensional theories we find evidence that the defect/boundary entropy changes monotonically under certain renormalization group flows triggered by operators localized at the defect or boundary. This provides evidence that the g-theorem of (1+1)-dimensional field theories generalizes to higher dimensions

  13. Primate pelvic anatomy and implications for birth

    Science.gov (United States)

    Trevathan, Wenda

    2015-01-01

    The pelvis performs two major functions for terrestrial mammals. It provides somewhat rigid support for muscles engaged in locomotion and, for females, it serves as the birth canal. The result for many species, and especially for encephalized primates, is an ‘obstetric dilemma’ whereby the neonate often has to negotiate a tight squeeze in order to be born. On top of what was probably a baseline of challenging birth, locomotor changes in the evolution of bipedalism in the human lineage resulted in an even more complex birth process. Negotiation of the bipedal pelvis requires a series of rotations, the end of which has the infant emerging from the birth canal facing the opposite direction from the mother. This pattern, strikingly different from what is typically seen in monkeys and apes, places a premium on having assistance at delivery. Recently reported observations of births in monkeys and apes are used to compare the process in human and non-human primates, highlighting similarities and differences. These include presentation (face, occiput anterior or posterior), internal and external rotation, use of the hands by mothers and infants, reliance on assistance, and the developmental state of the neonate. PMID:25602069

  14. The partial-birth stratagem.

    Science.gov (United States)

    1998-06-01

    In Wisconsin, physicians stopped performing abortions when a Federal District Court Judge refused to issue a temporary restraining order against the state's newly enacted "partial birth" abortion ban that was couched in such vague language it actually covered all abortions. While ostensibly attempting to ban late-term "intact dilation and extraction," the language of the law did not refer to that procedure or to late terms. Instead, it prohibited all abortions in which a physician "partially vaginally delivers a living child, causes the death of the partially delivered child with the intent to kill the child and then completes the delivery of the child." The law also defined "child" as "a human being from the time of fertilization" until birth. It is clear that this abortion ban is unconstitutional under Row v. Wade, and this unconstitutionality is compounded by the fact that the law allowed no exception to protect a woman's health, which is required by Roe for abortion bans after fetal viability. Wisconsin is only one of about 28 states that have enacted similar laws, and only two have restricted the ban to postviability abortions. Many of these laws have been struck down in court, and President Clinton has continued to veto the Federal partial-birth bill. The Wisconsin Judge acknowledged that opponents of the ban will likely prevail when the case is heard, but his action in denying the temporary injunction means that many women in Wisconsin will not receive timely medical care. The partial birth strategy is really only another anti-abortion strategy.

  15. Treatment of Mandibular Molar Class II Furcation Defects in Humans With Bovine Porous Bone Mineral in Combination With Plasma Rich in Growth Factors

    Directory of Open Access Journals (Sweden)

    S. Sadat Mansouri

    2012-01-01

    Full Text Available Objective: The purpose of the present randomized clinical trial study was to compare the effectiveness of Bovine Porous Bone Mineral (BPBM with and without Plasma Rich in Growth Factors (PRGF in the treatment of mandibular Class II furcation defects.Materials and Methods: In seven patients, nine pairs of symmetric buccal or lingual mandibular class II furcation defects were treated. In each patient, one defect received BPBM (control and the other received BPBM/PRGF (test by random assignment. Clinical measurements were made both at baseline and 6-month evaluation.Results: Similar improvements were observed with both treatment modalities.Significant reductions were gained in the gingival index, probing depth and relative vertical clinical attachment level. Plaque index and gingival recession changes were not significant in both groups. The mean probing depth reductions were 2.67±0.87 mm for the control group and 3.22±1.56 mm for the test group(p<0.001. The mean relative vertical clinical attachment level gains were 1.57±0.96 mm (p<0.001 and 1.65±1.24 mm (p<0.004 in the control and test groups, respectively. In the test group, the relative horizontal clinical attachment level reduced from 5.87±0.96 mm to 4.58±1.02 mm (p<0.02. No significant differenceswere observed in all clinical parameters 6 months postoperatively between the two groups.Conclusion: The application of a combined technique using BPBM/PRGF, compared to the BPBM alone, resulted in greater healing, although not significant, in the treatment of mandibular class II furcation defects.

  16. Preferential repair of ionizing radiation-induced damage in the transcribed strand of an active human gene is defective in Cockayne syndrome

    International Nuclear Information System (INIS)

    Leadon, S.A.; Copper, P.K.

    1993-01-01

    Cells from patients with Cockayne syndrome (CS), which are sensitive to killing by UV although overall damage removal appears normal, are specifically defective in repair of UV damage in actively transcribe genes. Because several CS strains display cross-sensitivity to killing by ionizing radiation, the authors examined whether ionizing radiation-induced damage in active genes is preferentially repaired by normal cells and whether the radiosensitivity of CS cells can be explained by a defect in this process. They found that ionizing radiation-induced damage was repaired more rapidly in the transcriptionally active metallothionein IIA (MTIIA) gene than in the inactive MTIIB gene or in the genome overall in normal cells as a result of faster repair on the transcribed strand of MTIIA. Cells of the radiosensitive CS strain CS1AN are completely defective in this strand-selective repair of ionizing radiation-induced damage, although their overall repair rate appears normal. CS3BE cells, which are intermediate in radiosensitivity, do exhibit more rapid repair of the transcribed strand but at a reduced rate compared to normal cells. Xeroderma pigmentosum complementation group A cells, which are hypersensitive to UV light because of a defect in the nucleotide excision repair pathway but do not show increased sensitivity to ionizing radiation, preferentially repair ionizing radiation-induced damage on the transcribed strand of MTIIA. Thus, the ability to rapidly repair ionizing radiation-induced damage in actively transcribing genes correlates with cell survival. The results extend the generality of preferential repair in active genes to include damage other than bulky lesions

  17. Micro CT and human histological analysis of a peri-implant osseous defect grafted with porous titanium granules: a case report.

    Science.gov (United States)

    Wohlfahrt, Johan Caspar; Aass, Anne Merete; Ronold, Hans Jacob; Lyngstadaas, Stale Petter

    2011-01-01

    Treatment of peri-implant osseous defects represents a significant challenge for clinicians, and the need to evolve within predictable surgical procedures is important. This case report describes the surgical treatment and grafting with porous titanium granules (PTG) of one patient with a peri-implant osseous defect. The suggested thrombogenic properties of titanium are intriguing from the perspective of osseous reconstructive surgery. In an ongoing randomized clinical trial using PTG for treatment of peri-implant osseous defects, one patient with one test implant was excluded and scheduled for implant removal. The surgical therapy included open flap debridement with surface decontamination with 24% EDTA gel, grafting with PTG, and resubmersion of the implant. After 12 months of healing, the implant with surrounding tissues was excised en bloc and micro CT and histological analyses were performed. Analyses showed PTG in close contact with new bone and with bone growing both into the porosities of the graft material and onto the adjacent implant surface. Element analysis demonstrated calcium and phosphorus in the new tissue embedding the PTG and the implant. Int J Oral Maxillofac Implants 2011;26:e9-e14.

  18. Genital and Urinary Tract Defects

    Science.gov (United States)

    ... conditions > Genital and urinary tract defects Genital and urinary tract defects E-mail to a friend Please fill ... and extra fluids. What problems can genital and urinary tract defects cause? Genital and urinary tract defects affect ...

  19. Resettlement and Birth Rates

    African Journals Online (AJOL)

    GB

    The Relationship between Resettlement and Birth Rates: The Case of ... statistical software. SAS is used. RESULTS: In a univariate analysis of Gambella's ..... World Bank Conference on Land And. Poverty. Washington DC, World Bank, April.

  20. birth-weight infants

    African Journals Online (AJOL)

    including the CRIB (Clinical Risk Index for Babies) score, in a local ... these babies for expensive tertiary care. Subjects. ... patient numbers, the tendency is simply to increase the ... included birth weight, gestational age, 5-minute Apgar score ...

  1. Birth Control - Multiple Languages

    Science.gov (United States)

    ... Methods - English PDF How to Switch Birth Control Methods - 简体中文 (Chinese, Simplified (Mandarin dialect)) ... Reproductive Health Access Project Non-Contraceptive Indications for Hormonal Contraceptive Products - English PDF Non- ...

  2. Birth control pills overdose

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/002599.htm Birth control pill overdose To use the sharing features on ... the medicine was prescribed for the person Poison Control Your local poison center can be reached directly ...

  3. Hypnotherapy for birth.

    Science.gov (United States)

    Howell, Maggie

    2014-05-01

    There are many misunderstandings about hypnotherapy for birth and how best to support a woman who has chosen to use it. This article brings together experiences of midwives who have attended women in labour using hypnotherapy, and aims to help birth professionals understand a bit more about hypnotherapy and how they can best support women who are using it. It is a personal account from a hypnotherapy trainer reflecting on her encounters with midwives as they share experiences of observing hypnotherapy in action.

  4. Monthly Pattern and Distribution of Births in a Teaching Institution of ...

    African Journals Online (AJOL)

    Evolving changes in the birth rhythm pattern have also been reported. In most ... due to climatological factors that directly affect human fecundity; and (3) ... Analysis was carried out by calculating average birth per month for the period under ...

  5. NCHS - Birth Rates for Unmarried Women by Age, Race, and Hispanic Origin: United States

    Data.gov (United States)

    U.S. Department of Health & Human Services — This dataset includes birth rates for unmarried women by age group, race, and Hispanic origin in the United States since 1970. National data on births by Hispanics...

  6. NCHS - Teen Birth Rates for Females by Age Group, Race, and Hispanic Origin: United States

    Data.gov (United States)

    U.S. Department of Health & Human Services — This dataset includes teen birth rates for females by age group, race, and Hispanic origin in the United States since 1960. National data on births by Hispanic...

  7. The birth order puzzle.

    Science.gov (United States)

    Zajonc, R B; Markus, H; Markus, G B

    1979-08-01

    Studies relating intellectual performance to birth order report conflicting results, some finding intellectual scores to increase, others to decrease with birth order. In contrast, the relationship between intellectual performance and family size is stable and consistently replicable. Why do these two highly related variables generate such divergent results? This birth order puzzle is resolved by means of the confluence model that quantifies the influences upon intellectual growth arising within the family context. At the time of a new birth, two opposing influences act upon intellectual growth of the elder sibling: (a) his or her intellectual environment is "diluted" and (b) he or she loses the "last-born's handicap" and begins serving as an intellectual resource to the younger sibling. Since these opposite effects are not equal in magnitude, the differences in intellectual performance among birth ranks are shown to be age dependent. While elder children may surpass their younger siblings in intellectual performance at some ages, they may be overtaken by them at others. Thus when age is taken into consideration, the birth order literature loses its chaotic character and an orderly pattern of results emerges.

  8. Congenital heart defects and extracardiac malformations.

    Science.gov (United States)

    Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

    2013-06-01

    To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

  9. Corpus callosum defect with dilated lateral ventricles and an ...

    African Journals Online (AJOL)

    Diamond-Blackfan anemia (DBA), an inherited bone marrow failure syndrome characterized by anemia that usually presents before the first birthday or in early childhood, is associated with birth defects and an increased risk of cancer. Although anemia is the most prominent feature of DBA, the disease is also characterized ...

  10. A study on limb reduction defects in six European regions

    NARCIS (Netherlands)

    Stoll, C; Calzolari, E; Cornel, M; GarciaMinaur, S; Garne, E; Nevin, N

    1996-01-01

    Limb reduction defects (LRD) gained especial attention after the thalidomide tragedy in 1962, LRD are common congenital malformations which present as obvious congenital anomalies recognized at birth, Therefore it might be assumed that they are well documented, However classification of LRDs is

  11. Birth Territory: a theory for midwifery practice.

    Science.gov (United States)

    Fahy, Kathleen M; Parratt, Jenny Anne

    2006-07-01

    The theory of Birth Territory describes, explains and predicts the relationships between the environment of the individual birth room, issues of power and control, and the way the woman experiences labour physiologically and emotionally. The theory was synthesised inductively from empirical data generated by the authors in their roles as midwives and researchers. It takes a critical post-structural feminist perspective and expands on some of the ideas of Michel Foucault. Theory synthesis was also informed by current research about the embodied self and the authors' scholarship in the fields of midwifery, human biology, sociology and psychology. In order to demonstrate the significance of the theory, it is applied to two clinical stories that both occur in hospital but are otherwise different. This analysis supports the central proposition that when midwives use 'midwifery guardianship' to create and maintain the ideal Birth Territory then the woman is most likely to give birth naturally, be satisfied with the experience and adapt with ease in the post-birth period. These benefits together with the reduction in medical interventions also benefit the baby. In addition, a positive Birth Territory is posited to have a broader impact on the woman's partner, family and society in general.

  12. An incomplete trafficking defect to the cell-surface leads to paradoxical thrombocytosis for human and murine MPL P106L.

    Science.gov (United States)

    Favale, Fabrizia; Messaoudi, Kahia; Varghese, Leila N; Boukour, Siham; Pecquet, Christian; Gryshkova, Vitalina; Defour, Jean Philippe; Albu, Roxana-Irina; Bluteau, Olivier; Ballerini, Paola; Leverger, Guy; Plo, Isabelle; Debili, Najet; Raslova, Hana; Favier, Remi; Constantinescu, Stefan N; Vainchenker, William

    2016-12-29

    The mechanisms behind the hereditary thrombocytosis induced by the thrombopoietin (THPO) receptor MPL P106L mutant remain unknown. A complete trafficking defect to the cell surface has been reported, suggesting either weak constitutive activity or nonconventional THPO-dependent mechanisms. Here, we report that the thrombocytosis phenotype induced by MPL P106L belongs to the paradoxical group, where low MPL levels on platelets and mature megakaryocytes (MKs) lead to high serum THPO levels, whereas weak but not absent MPL cell-surface localization in earlier MK progenitors allows response to THPO by signaling and amplification of the platelet lineage. MK progenitors from patients showed no spontaneous growth and responded to THPO, and MKs expressed MPL on their cell surface at low levels, whereas their platelets did not respond to THPO. Transduction of MPL P106L in CD34 + cells showed that this receptor was more efficiently localized at the cell surface on immature than on mature MKs, explaining a proliferative response to THPO of immature cells and a defect in THPO clearance in mature cells. In a retroviral mouse model performed in Mpl -/- mice, MPL P106L could induce a thrombocytosis phenotype with high circulating THPO levels. Furthermore, we could select THPO-dependent cell lines with more cell-surface MPL P106L localization that was detected by flow cytometry and [ 125 I]-THPO binding. Altogether, these results demonstrate that MPL P106L is a receptor with an incomplete defect in trafficking, which induces a low but not absent localization of the receptor on cell surface and a response to THPO in immature MK cells. © 2016 by The American Society of Hematology.

  13. The human milk study, HUMIS. Presentation of a birth cohort study which aims to collect milk samples from 6000 mothers, for the assessment of persistent organic pollutants (POPS), relating it to exposure factors and health outcomes

    Energy Technology Data Exchange (ETDEWEB)

    Eggesboe, M.; Stigum, H.; Becher, G.; Magnus, P. [Norwegian Inst. of Public Health, Oslo (Norway); Polder, A.; Skaare, J.U. [The Norwegian School of Veterinay Science, Oslo (Norway); Lindstroem, G. [Orebro Univ., Orebro (Sweden)

    2004-09-15

    Although PCB has been forbidden for more than 20 years now, and its levels in human milk is declining, it remains among the chemicals in human milk causing most concern with regard to its possible detrimental effects on the fetus and the breastfed child. Due to our industry, amongst others, the Norwegian population has been rather heavily exposed to PCB. Furthermore, new environmental toxicants are steadily entering the scene, such as the Brominated flame retardants. The level of Brominated flame retardants in human milk has shown an exponential increase during the last ten years, and this group of chemicals, are causing increasingly more concern. Studies from Sweden has shown that the levels differ greatly between individuals, however, for reasons yet unknown. In Norway, the highest levels of Brominated flame retardants ever measured in the world was reported from fish in Mjoesa. Surprisingly few attempts has been made to identify dietary habits or other life style factors that are associated with the levels of these toxicants in human milk. Such knowledge is needed in order for accurate prophylactic measures to be taken by the population and of special importance to women before and during child bearing age, in order to keep the levels in human milk as low as possible. Furthermore, there is great need for more knowledge of the effects of these toxicants on child health. The need for more research in this field, especially the need for prospective exposure data and the need for interdisciplinary approaches has been specifically targeted. Therefore a research initiative was taken in Norway to establish a prospective birth cohort which aims to recruit 6000 mother/child pairs, in whom human milk samples are collected in infancy and information on health outcomes are collected throughout the child's first seven years of life. The aim of this presentation is to describe this project in more detail and to give some preliminary results.

  14. Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model.

    Science.gov (United States)

    Saito, Akiko; Ooki, Akio; Nakamura, Takashi; Onodera, Shoko; Hayashi, Kamichika; Hasegawa, Daigo; Okudaira, Takahito; Watanabe, Katsuhito; Kato, Hiroshi; Onda, Takeshi; Watanabe, Akira; Kosaki, Kenjiro; Nishimura, Ken; Ohtaka, Manami; Nakanishi, Mahito; Sakamoto, Teruo; Yamaguchi, Akira; Sueishi, Kenji; Azuma, Toshifumi

    2018-01-22

    Runt-related transcription factor 2 (RUNX2) haploinsufficiency causes cleidocranial dysplasia (CCD) which is characterized by supernumerary teeth, short stature, clavicular dysplasia, and osteoporosis. At present, as a therapeutic strategy for osteoporosis, mesenchymal stem cell (MSC) transplantation therapy is performed in addition to drug therapy. However, MSC-based therapy for osteoporosis in CCD patients is difficult due to a reduction in the ability of MSCs to differentiate into osteoblasts resulting from impaired RUNX2 function. Here, we investigated whether induced pluripotent stem cells (iPSCs) properly differentiate into osteoblasts after repairing the RUNX2 mutation in iPSCs derived from CCD patients to establish normal iPSCs, and whether engraftment of osteoblasts derived from properly reverted iPSCs results in better regeneration in immunodeficient rat calvarial bone defect models. Two cases of CCD patient-derived induced pluripotent stem cells (CCD-iPSCs) were generated using retroviral vectors (OCT3/4, SOX2, KLF4, and c-MYC) or a Sendai virus SeVdp vector (KOSM302L). Reverted iPSCs were established using programmable nucleases, clustered regularly interspaced short palindromic repeats (CRISPR)/Cas-derived RNA-guided endonucleases, to correct mutations in CCD-iPSCs. The mRNA expressions of osteoblast-specific markers were analyzed using quantitative reverse-transcriptase polymerase chain reaction. iPSCs-derived osteoblasts were transplanted into rat calvarial bone defects, and bone regeneration was evaluated using microcomputed tomography analysis and histological analysis. Mutation analysis showed that both contained nonsense mutations: one at the very beginning of exon 1 and the other at the initial position of the nuclear matrix-targeting signal. The osteoblasts derived from CCD-iPSCs (CCD-OBs) expressed low levels of several osteoblast differentiation markers, and transplantation of these osteoblasts into calvarial bone defects created in rats with

  15. NCHS - U.S. and State Trends on Teen Births

    Data.gov (United States)

    U.S. Department of Health & Human Services — This dataset assembles all final birth data for females aged 15–19, 15–17, and 18–19 for the United States and each of the 50 states. Data are based on 100% of birth...

  16. Defects in semiconductors

    CERN Document Server

    Romano, Lucia; Jagadish, Chennupati

    2015-01-01

    This volume, number 91 in the Semiconductor and Semimetals series, focuses on defects in semiconductors. Defects in semiconductors help to explain several phenomena, from diffusion to getter, and to draw theories on materials' behavior in response to electrical or mechanical fields. The volume includes chapters focusing specifically on electron and proton irradiation of silicon, point defects in zinc oxide and gallium nitride, ion implantation defects and shallow junctions in silicon and germanium, and much more. It will help support students and scientists in their experimental and theoret

  17. Birth Order and Child Health

    OpenAIRE

    Lundberg, Evelina; Svaleryd, Helena

    2017-01-01

    Previous research has established that birth order affects outcomes such as educational achievements, IQ and earnings. The mechanisms behind these effects are, however, still largely unknown. In this paper, we examine birth-order effects on health, and whether health at young age could be a transmission channel for birth-order effects observed later in life. We find no support for the birth-order effect having a biological origin; rather firstborns have worse health at birth. This disadvantag...

  18. BIRTH-ORDER, DELIVERY ROUTE, AND CONCORDANCE IN THE TRANSMISSION OF HUMAN-IMMUNODEFICIENCY-VIRUS TYPE-1 FROM MOTHERS TO TWINS

    NARCIS (Netherlands)

    DULIEGE, AM; AMOS, CI; FELTON, S; BIGGAR, RJ; ZIEGLER, J; CRUIKSHANK, M; LEVY, J; MEATES, MA; GIBB, D; MAYAUX, MJ; TEGLAS, JP; LAURENT, C; BLANCHE, S; ROUZIOUX, C; HELLINGGIESE, G; MATTNER, U; HOEGER, PH; CONLON, T; GRIFFIN, E; DEMARIA, A; BENEDETTO, A; PRINCIPI, N; GIAQUINTO, C; GIANCOMELLI, A; MOK, J; CASABONA, J; FORTUNY, C; URIZ, S; PEREZ, JM; TUSETRUIZ, MC; LEON, P; ELORZA, JFY; CANOSA, C; BRANDLE, B; SEGER, R; NADAL, D; IRION, O; WYLER, CA; DAVIS, P; LALLEMANT, M; LALLEMANTLECOEUR, S; HITIMANA, DG; LEPAGE, P; VANDEPERRE, P; DABIS, F; MARUM, L; NDUGWA, C; TINDYEBWA, D; ACENG, E; MMIRO, F; SUTONGAS, T; OLNESS, K; LAPOINTE, N; RUBINSTEIN, A; BURGE, D; STECHENBERG, BW; COOPER, E; REGAN, AM; SHIPKOWITZ, S; WIZNIA, A; BRUNELL, PA; COURVILLE, T; RUTSTEIN, R; MCINTOSH, K; PETRU, A; OLEARY, M; CHURCH, J; TAYLOR, S; SQUIRES, J; MALLORY, M; YOGEV, R; RAKUSAN, T; PLUMLEY, S; SHELTON, MM; WILFERT, C; LANE, B; ABRAMS, EJ; RANA, S; CHANDAVASU, O; PUVABANDITSIN, S; CHOW, JH; SHAH, K; NACHMAN, S; ONEILL, R; SELWYN, P; SHOENBAUM, E; BARZILAI, A; WARFORD, R; AHERN, L; PAHWA, S; PNUGOTI, N; GARCIATRIAS, DE; BAKSHI, S; LANDESMAN, S; MENDEZ, H; MOROSO, G; MENDEZBAUTISTA, RD; FIKRIG, S; BELMAN, A; KLINE, MW; HANSON, C; EDELSON, P; HINDS, G; VANDYKE, R; CLARK, R; WARA, DW; MANIO, EB; JOHNSON, G; WELLS, L; JOHNSON, JP; ALGER, L; LUZURIAGA, K; MASTRUCCI, T; SUNKUTU, MR; RODRIGUEZ, Z; DOYLE, M; REUBEN, J; BRYSON, Y; DILLON, M; SIMPSON, BJ; ANDIMAN, W; URIBE, P; Klauke, B.

    Background: We evaluated data from prospectively identified twins to understand better the mechanisms and covariates of mother-to-infant transmission of human immunodeficiency virus (HIV). Methods: Using data obtained from an international collaboration and multivariate quasilikelihood modeling, we

  19. Birth order and psychopathology.

    Science.gov (United States)

    Risal, Ajay; Tharoor, Hema

    2012-07-01

    Ordinal position the child holds within the sibling ranking of a family is related to intellectual functioning, personality, behavior, and development of psychopathology. To study the association between birth order and development of psychopathology in patients attending psychiatry services in a teaching hospital. Hospital-based cross-sectional study. Retrospective file review of three groups of patients was carried out. Patient-related variables like age of onset, birth order, family type, and family history of mental illness were compared with psychiatry diagnosis (ICD-10) generated. SPSS 13; descriptive statistics and one-way analysis of variance (ANOVA) were used. Mean age of onset of mental illness among the adult general psychiatry patients (group I, n = 527) was found to be 33.01 ± 15.073, while it was 11.68 ± 4.764 among the child cases (group II, n = 47) and 26.74 ± 7.529 among substance abuse cases (group III, n = 110). Among group I patients, commonest diagnosis was depression followed by anxiety and somatoform disorders irrespective of birth order. Dissociative disorders were most prevalent in the first born child (36.7%) among group II patients. Among group III patients, alcohol dependence was maximum diagnosis in all birth orders. Depression and alcohol dependence was the commonest diagnosis in adult group irrespective of birth order.

  20. Ethics and "normal birth".

    Science.gov (United States)

    Lyerly, Anne Drapkin

    2012-12-01

    The concept of "normal birth" has been promoted as ideal by several international organizations, although debate about its meaning is ongoing. In this article, I examine the concept of normalcy to explore its ethical implications and raise a trio of concerns. First, in its emphasis on nonuse of technology as a goal, the concept of normalcy may marginalize women for whom medical intervention is necessary or beneficial. Second, in its emphasis on birth as a socially meaningful event, the mantra of normalcy may unintentionally avert attention to meaning in medically complicated births. Third, the emphasis on birth as a normal and healthy event may be a contributor to the long-standing tolerance for the dearth of evidence guiding the treatment of illness during pregnancy and the failure to responsibly and productively engage pregnant women in health research. Given these concerns, it is worth debating not just what "normal birth" means, but whether the term as an ideal earns its keep. © 2012, Copyright the Authors Journal compilation © 2012, Wiley Periodicals, Inc.

  1. Birth Order and Psychopathology

    Directory of Open Access Journals (Sweden)

    Ajay Risal

    2012-01-01

    Full Text Available Context: Ordinal position the child holds within the sibling ranking of a family is related to intellectual functioning, personality, behavior, and development of psychopathology. Aim: To study the association between birth order and development of psychopathology in patients attending psychiatry services in a teaching hospital. Settings and Design: Hospital-based cross-sectional study. Materials and Methods: Retrospective file review of three groups of patients was carried out. Patient-related variables like age of onset, birth order, family type, and family history of mental illness were compared with psychiatry diagnosis (ICD-10 generated. Statistical Analysis: SPSS 13; descriptive statistics and one-way analysis of variance (ANOVA were used. Results: Mean age of onset of mental illness among the adult general psychiatry patients (group I, n = 527 was found to be 33.01 ± 15.073, while it was 11.68 ± 4.764 among the child cases (group II, n = 47 and 26.74 ± 7.529 among substance abuse cases (group III, n = 110. Among group I patients, commonest diagnosis was depression followed by anxiety and somatoform disorders irrespective of birth order. Dissociative disorders were most prevalent in the first born child (36.7% among group II patients. Among group III patients, alcohol dependence was maximum diagnosis in all birth orders. Conclusions: Depression and alcohol dependence was the commonest diagnosis in adult group irrespective of birth order.

  2. Navajo birth outcomes in the Shiprock uranium mining area

    International Nuclear Information System (INIS)

    Shields, L.M.; Wiese, W.H.; Skipper, B.J.; Charley, B.; Benally, L.

    1992-01-01

    The role of environmental radiation in the etiology of birth defects, stillbirths, and other adverse outcomes of pregnancy was evaluated for 13,329 Navajos born at the Public Health Service/Indian Health Service Hospital in the Shiprock, NM, uranium mining area (1964-1981). More than 320 kinds of defective congenital conditions were abstracted from hospital records. Using a nested case-control design, families of 266 pairs of index and control births were interviewed. The only statistically significant association between uranium operations and unfavorable birth outcome was identified with the mother living near tailings or mine dumps. Among the fathers who worked in the mines, those of the index cases had histories of more years of work exposure but not necessarily greater gonadal dosage of radiation. Also, birth defects increased significantly when either parent worked in the Shiprock electronics assembly plant. Overall, the associations between adverse pregnancy outcome and exposure to radiation were weak and must be interpreted with caution with respect to implying a biogenetic basis

  3. The birth control movement before Roe v. Wade.

    Science.gov (United States)

    Reed, J W

    1995-01-01

    This essay synthesizes the history of the birth control movement in the US and describes changes in sexual behavior, social values, and public policy in order to provide a context for the changes in human reproductive public policy. After an introduction, the essay outlines the history of contraception from the early nineteenth to the early twentieth centuries. Part 3 covers the period of World War I to the Depression when civil libertarians and eugenicists began to question the suppression of contraception and Margaret Sanger organized her clinics. The fourth part of the essay carries the history forward to the end of World War II, a period in which Dr. Clarence J. Gamble began to expose the marketing of defective contraceptive methods and to illustrate the willingness of poor women to accept contraceptives. The social changes which began in the 1950s are the subject of the fifth section of the essay. During this period, Roman Catholic opposition to contraception lessened, and social scientists began to focus world attention on overpopulation. Frank Notestein was appointed the first head of the Office of Population Research at Princeton, and John D. Rockefeller III founded the Population Council which conducted research into the IUD and began to attempt to influence population growth in nonindustrialized countries. This period also saw the development of the oral contraceptive. The changes of this era were institutionalized in 1967 when the federal government took a positive stance towards family planning in its Social Security Amendments. The decade of the 1970s is the subject of the last part of this essay. This period saw the Supreme Court assign a constitutionally protected right to abortion and Congress pass the Helms Amendment which denied the use of foreign aid funds for abortions. Challenges to the right to individual birth control practice continued during this period, and debate centered around the specter of overpopulation, the threat of adolescent

  4. Socioeconomic determinants of accessibility to birth registration in Lao PDR.

    Science.gov (United States)

    Nomura, Marika; Xangsayarath, Phonepadith; Takahashi, Kenzo; Kamiya, Yusuke; Siengsounthone, Latsamy; Ogino, Hina; Kobayashi, Jun

    2018-01-08

    The global coverage rate of birth registration is only around 65% for the population of children under five although birth registration secures protection and access to health services that are fundamental rights for all babies. This study aimed to perform a basic analysis of the accessibility to birth registration to better understand how to improve the birth registration system in the Lao PDR. For the analysis of birth registration and related socioeconomic factors, 9576 mother-child pairs were chosen from the data set of The Lao Social Indicator Survey 2011-12. After bivariate analysis with statistical tests including the chi-square test were conducted, logistic regression was performed to determine the variables that statistically influence accessibility to birth registration. Ethno-geographic factors and place of delivery were observed to be the factors associated with birth registration in this analysis. Many mothers in the Lao PDR deliver in their local communities. Therefore, capacity development of various human resources, such as Skilled Birth Attendant, to support the local administrative procedure of birth registration in their communities could be one option to overcoming the bottlenecks in the birth registration process in the Lao PDR.

  5. Prevention of preterm birth.

    LENUS (Irish Health Repository)

    Flood, Karen

    2012-02-01

    Preterm birth (delivery before 37 completed weeks of gestation) is common and rates are increasing. In the past, medical efforts focused on ameliorating the consequences of prematurity rather than preventing its occurrence. This approach resulted in improved neonatal outcomes, but it remains costly in terms of both the suffering of infants and their families and the economic burden on society. Increased understanding of the pathophysiology of preterm labor has altered the approach to this problem, with increased focus on preventive strategies. Primary prevention is a limited strategy which involves public education, smoking cessation, improved nutritional status and avoidance of late preterm births. Secondary prevention focuses on recurrent preterm birth which is the most recognisable risk factor. Widely accepted strategies include cervical cerclage, progesterone and dedicated clinics. However, more research is needed to explore the role of antibiotics and anti-inflammatory treatments in the prevention of this complex problem.

  6. Metallography of defects

    International Nuclear Information System (INIS)

    Borisova, E.A.; Bochvar, G.A.; Brun, M.Ya.

    1980-01-01

    Different types of defects of metallurgical, technological and exploitation origin in intermediate and final products of titanium alloys, are considered. The examples of metallic and nonmetallic inclusions, chemical homogeneity, different grains, bands, cracks, places of searing, porosity are given; methods of detecting the above defects are described. The methods of metallography, X-ray spectral analysis, measuring microhardness are used

  7. Birth room images

    DEFF Research Database (Denmark)

    Bowden, Calida; Sheehan, Athena; Foureur, Maralyn Jean

    2016-01-01

    Objective: this study examined images of birth rooms in developed countries to analyse the messages and visual discourse being communicated through images. Design: a small qualitative study using Kress and van Leeuwen's (2006) social semiotic theoretical framework for image analysis, a form...... and implications for practice: as images on the Internet inform and persuade society about stereotypical behaviours, the trends of our time and sociocultural norms, it is important to recognise images of the technological birth room on the Internet may be influential in dictating women's attitudes, choices...

  8. [Difficulties of the methods for studying environmental exposure and neural tube defects].

    Science.gov (United States)

    Borja-Aburto, V H; Bermúdez-Castro, O; Lacasaña-Navarro, M; Kuri, P; Bustamante-Montes, P; Torres-Meza, V

    1999-01-01

    To discuss the attitudes in the assessment of environmental exposures as risk factors associated with neural tube defects, and to present the main risk factors studied to date. Environmental exposures have been suggested to have a roll in the genesis of birth defects. However, studies conducted in human populations have found difficulties in the design and conduction to show such an association for neural tube defects (anencephaly, espina bifida and encephalocele) because of problems raised from: a) the frequency measures used to compare time trends and communities, b) the classification of heterogeneous malformations, c) the inclusion of maternal, paternal and fetal factors as an integrated process and, d) the assessment of environmental exposures. Hypothetically both maternal and paternal environmental exposures can produce damage before and after conception by direct action on the embryo and the fetus-placenta complex. Therefore, in the assessment of environmental exposures we need to take into account: a) both paternal and maternal exposures; b) the critical exposure period, three months before conception for paternal exposures and one month around the conceptional period for maternal exposures; c) quantitatively evaluate environmental exposures when possible, avoiding a dichotomous classification; d) the use of biological markers of exposure is highly recommended as well as markers of genetic susceptibility.

  9. Defects at oxide surfaces

    CERN Document Server

    Thornton, Geoff

    2015-01-01

    This book presents the basics and characterization of defects at oxide surfaces. It provides a state-of-the-art review of the field, containing information to the various types of surface defects, describes analytical methods to study defects, their chemical activity and the catalytic reactivity of oxides. Numerical simulations of defective structures complete the picture developed. Defects on planar surfaces form the focus of much of the book, although the investigation of powder samples also form an important part. The experimental study of planar surfaces opens the possibility of applying the large armoury of techniques that have been developed over the last half-century to study surfaces in ultra-high vacuum. This enables the acquisition of atomic level data under well-controlled conditions, providing a stringent test of theoretical methods. The latter can then be more reliably applied to systems such as nanoparticles for which accurate methods of characterization of structure and electronic properties ha...

  10. Defects in dilute nitrides

    International Nuclear Information System (INIS)

    Chen, W.M.; Buyanova, I.A.; Tu, C.W.; Yonezu, H.

    2005-01-01

    We provide a brief review our recent results from optically detected magnetic resonance studies of grown-in non-radiative defects in dilute nitrides, i.e. Ga(In)NAs and Ga(Al,In)NP. Defect complexes involving intrinsic defects such as As Ga antisites and Ga i self interstitials were positively identified.Effects of growth conditions, chemical compositions and post-growth treatments on formation of the defects are closely examined. These grown-in defects are shown to play an important role in non-radiative carrier recombination and thus in degrading optical quality of the alloys, harmful to performance of potential optoelectronic and photonic devices based on these dilute nitrides. (author)

  11. Neural Tube Defects

    Science.gov (United States)

    ... March of Dimes Premature Birth Report Card Grades Cities, Counties; Focuses on Racial and Ethnic Disparities March ... folate. Good sources of folate are: Beans Leafy green vegetables Orange juice You have to eat a ...

  12. socio-economic determinants of birth preparedness and ...

    African Journals Online (AJOL)

    DGS-FUTO

    2018-05-31

    5 days ago ... COMPLICATION READINESS BEHAVIOUR AMONG PREGNANT. WOMEN IN UGHELLI .... logistic regression model was used to identify the factors affecting birth preparedness and .... Due to the rationality of human nature ...

  13. NCHS - Births to Unmarried Women by Age Group: United States

    Data.gov (United States)

    U.S. Department of Health & Human Services — This dataset includes number of births to unmarried women by age group in the United States since 1940. Methods for collecting information on marital status changed...

  14. VSRR - Quarterly provisional estimates for selected birth indicators

    Data.gov (United States)

    U.S. Department of Health & Human Services — Provisional estimates of selected reproductive indicators. Estimates are presented for: general fertility rates, age-specific birth rates, total and low risk...

  15. NCHS - Births and General Fertility Rates: United States

    Data.gov (United States)

    U.S. Department of Health & Human Services — This dataset includes crude birth rates and general fertility rates in the United States since 1909. The number of states in the reporting area differ historically....

  16. Defects of mtDNA Replication Impaired Mitochondrial Biogenesis During Trypanosoma cruzi Infection in Human Cardiomyocytes and Chagasic Patients: The Role of Nrf1/2 and Antioxidant Response

    Science.gov (United States)

    Wan, Xianxiu; Gupta, Shivali; Zago, Maria P.; Davidson, Mercy M.; Dousset, Pierre; Amoroso, Alejandro; Garg, Nisha Jain

    2012-01-01

    Background Mitochondrial dysfunction is a key determinant in chagasic cardiomyopathy development in mice; however, its relevance in human Chagas disease is not known. We determined if defects in mitochondrial biogenesis and dysregulation of peroxisome proliferator-activated receptor gamma (PPARγ) coactivator-1 (PGC-1)–regulated transcriptional pathways constitute a mechanism or mechanisms underlying mitochondrial oxidative-phosphorylation (OXPHOS) deficiency in human Chagas disease. Methods and Results We utilized human cardiomyocytes and left-ventricular tissue from chagasic and other cardiomyopathy patients and healthy donors (n>6/group). We noted no change in citrate synthase activity, yet mRNA and/or protein levels of subunits of the respiratory complexes were significantly decreased in Trypanosoma cruzi–infected cardiomyocytes (0 to 24 hours) and chagasic hearts. We observed increased mRNA and decreased nuclear localization of PGC-1-coactivated transcription factors, yet the expression of genes for PPARγ-regulated fatty acid oxidation and nuclear respiratory factor (NRF1/2)–regulated mtDNA replication and transcription machinery was enhanced in infected cardiomyocytes and chagasic hearts. The D-loop formation was normal or higher, but mtDNA replication and mtDNA content were decreased by 83% and 40% to 65%, respectively. Subsequently, we noted that reactive oxygen species (ROS), oxidative stress, and mtDNA oxidation were significantly increased, yet NRF1/2-regulated antioxidant gene expression remained compromised in infected cardiomyocytes and chagasic hearts. Conclusions The replication of mtDNA was severely compromised, resulting in a significant loss of mtDNA and expression of OXPHOS genes in T cruzi–infected cardiomyocytes and chagasic hearts. Our data suggest increased ROS generation and selective functional incapacity of NRF2-mediated antioxidant gene expression played a role in the defects in mtDNA replication and unfitness of mtDNA for

  17. Birth Control Explorer

    Science.gov (United States)

    Menu Sex Ed Ask Us Anything Videos Games & Quizzes Connect Search About Find a Health Center X Sort by Advanced Search Show/Hide Content Types Article Game Poll Q&A Series Quiz Video Leave un-checked to search all types Search Sex Ed by Topic show topics hide topics Birth ...

  18. Finding Autonomy in Birth*

    Science.gov (United States)

    Kukla, Rebecca; Kuppermann, Miriam; Little, Margaret; Lyerly, Anne Drapkin; Mitchell, Lisa M; Armstrong, Elizabeth M.; Harris, Lisa

    2009-01-01

    Over the last several years, as cesarean deliveries have grown increasingly common, there has been a great deal of public and professional interest in the phenomenon of women ‘choosing’ to deliver by cesarean section in the absence of any specific medical indication. The issue has sparked intense conversation, as it raises questions about the nature of autonomy in birth. Whereas mainstream bioethical discourse is used to associating autonomy with having a large array of choices, this conception of autonomy does not seem adequate to capture concerns and intuitions that have a strong grip outside of this discourse. An empirical and conceptual exploration of how delivery decisions ought to be negotiated must be guided by a rich understanding of women’s agency and its placement within a complicated set of cultural meanings and pressures surrounding birth. It is too early to be ‘for’ or ‘against’ women’s access to cesarean delivery in the absence of traditional medical indications - and indeed, a simple pro- or con- position is never going to do justice to the subtlety of the issue. The right question is not whether women ought to be allowed to choose their delivery approach, but rather, taking the value of women’s autonomy in decision-making around birth as a given, what sorts of guidelines, practices, and social conditions will best promote and protect women’s full inclusion in a safe and positive birth process. PMID:19076937

  19. The Birth of "Frankenstein"

    Science.gov (United States)

    Howard, Jennifer

    2008-01-01

    Nobody shouts "It's alive!" in the novel that gave birth to Frankenstein's monster. "Frankenstein, or the Modern Prometheus," does not feature mad scientists messing around with beakers in laboratories, nor does it deliver any bug-eyed assistants named Igor. Hollywood has given people those stock images, but the story of the monster and his maker…

  20. Birth Order Debate Resolved?

    Science.gov (United States)

    Zajonc, R. B.

    2001-01-01

    Critiques Rodgers et al.'s June 2000 research on the relation between birth order and intelligence, which suggests that it is a methodological illusion. Explains how the intellectual environment and the teaching function (whereby older children tutor younger ones) contribute to the growth of intellectual maturity, the first negatively and the…

  1. Birth control pills - overview

    Science.gov (United States)

    ... of Gynecology and Obstetrics at Johns Hopkins University School of Medicine, Baltimore, MD. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Birth Control Read more NIH MedlinePlus Magazine Read more Health ...

  2. The Birth Order Puzzle.

    Science.gov (United States)

    Zajonc, R. B.; And Others

    1979-01-01

    Discusses the controversy of the relationship between birth order and intellectual performance through a detailed evaluation of the confluence model which assumes that the rate of intellectual growth is a function of the intellectual environment within the family and associated with the special circumstances of last children. (CM)

  3. Parturition lines in modern human wisdom tooth roots: do they exist, can they be characterized and are they useful for retrospective determination of age at first reproduction and/or inter-birth intervals?

    Science.gov (United States)

    Dean, M Christopher; Elamin, Fadil

    2014-01-01

    Parturition lines have been described in the teeth of a number of animals, including primates, but never in modern humans. These accentuated lines in dentine are comprised of characteristic dark and light component zones. The aim of this study was to review the physiology underlying these lines and to ask if parturition lines exist in the third molar tooth roots of mothers known to have had one or more children during their teenage years. Brief retrospective oral medical obstetric histories were taken from four mothers and compared with histological estimates for the timing of accentuated markings visible in longitudinal ground sections of their wisdom teeth. Evidence of accentuated markings in M3 root dentine matched the age of the mother at the time their first child was born reasonably well. However, the dates calculated for inter-birth intervals did not match well. Parturition lines corresponding to childbirth during the teenage years can exist in human M3 roots, but may not always do so. Without a written medical history it would not be possible to say with confidence that an accentuated line in M3 root dentine was caused by stress, illness or was a parturition line.

  4. An Fgf8 Mouse Mutant Phenocopies Human 22q11 Deletion Syndrome

    OpenAIRE

    Frank, Deborah U.; Fotheringham, Lori K.; Brewer, Judson A.; Muglia, Louis J.; Tristani-Firouzi, Martin; Capecchi, Mario R.; Moon, Anne M.

    2002-01-01

    Deletion of chromosome 22q11, the most common microdeletion detected in humans, is associated with a life-threatening array of birth defects. Although 90% of affected individuals share the same three megabase deletion, their phenotype is highly variable and includes craniofacial and cardiovascular anomalies, hypoplasia or aplasia of the thymus with associated deficiency of T cells, hypocalcemia with hypoplasia or aplasia of the parathyroids, and a variety of central nervous system abnormaliti...

  5. The association of birth model with resilience variables and birth experience: Home versus hospital birth.

    Science.gov (United States)

    Handelzalts, Jonathan E; Zacks, Arni; Levy, Sigal

    2016-05-01

    to study home, natural hospital, and medical hospital births, and the association of these birth models to resilience and birth experience. cross-section retrospective design. participants were recruited via an online survey system. Invitations to participate were posted in five different Internet forums for women on maternity leave, from September 2014 to August 2015. the sample comprised 381 post partum healthy women above the age of 20, during their maternity leave. Of the participants: 22% gave birth at home, 32% gave birth naturally in a hospital, and 46% of the participants had a medical birth at the hospital. life Orientation Test Revised (LOT-R), General Self-Efficacy Scale, Sense of Mastery Scale, Childbirth Experience Questionnaire (CEQ). women having had natural births, whether at home or at the hospital, significantly differed from women having had medical births in all aspects of the birth experience, even when controlling for age and optimism. Birth types contributed to between 14% and 24% of the explained variance of the various birth experience aspects. home and natural hospital births were associated with a better childbirth experience. Optimism was identified as a resilience factor, associated both with preference as well as with childbirth experience. physically healthy and resilient women could be encouraged to explore the prospect of home or natural hospital births as a means to have a more positive birth experience. Copyright © 2016 Elsevier Ltd. All rights reserved.

  6. Formation of topological defects

    International Nuclear Information System (INIS)

    Vachaspati, T.

    1991-01-01

    We consider the formation of point and line topological defects (monopoles and strings) from a general point of view by allowing the probability of formation of a defect to vary. To investigate the statistical properties of the defects at formation we give qualitative arguments that are independent of any particular model in which such defects occur. These arguments are substantiated by numerical results in the case of strings and for monopoles in two dimensions. We find that the network of strings at formation undergoes a transition at a certain critical density below which there are no infinite strings and the closed-string (loop) distribution is exponentially suppressed at large lengths. The results are contrasted with the results of statistical arguments applied to a box of strings in dynamical equilibrium. We argue that if point defects were to form with smaller probability, the distance between monopoles and antimonopoles would decrease while the monopole-to-monopole distance would increase. We find that monopoles are always paired with antimonopoles but the pairing becomes clean only when the number density of defects is small. A similar reasoning would also apply to other defects

  7. Validation of birth outcomes from the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS): population-based analysis from the Massachusetts Outcome Study of Assisted Reproductive Technology (MOSART).

    Science.gov (United States)

    Stern, Judy E; Gopal, Daksha; Liberman, Rebecca F; Anderka, Marlene; Kotelchuck, Milton; Luke, Barbara

    2016-09-01

    To assess the validity of outcome data reported to the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS) compared with data from vital records and the birth defects registry in Massachusetts. Longitudinal cohort. Not applicable. A total of 342,035 live births and fetal deaths from Massachusetts mothers giving birth in the state from July 1, 2004, to December 31, 2008; 9,092 births and fetal deaths were from mothers who had conceived with the use of assisted reproductive technology (ART) and whose cycle data had been reported to the SART CORS. Not applicable. Percentage agreement between maternal race and ethnicity, delivery outcome (live birth or fetal death), plurality (singleton, twin, or triplet+), delivery date, and singleton birth weight reported in the SART CORS versus vital records; sensitivity and specificity for birth defects among singletons as reported in the SART CORS versus the Massachusetts Birth Defects Monitoring Program (BDMP). There was >95% agreement between the SART CORS and vital records for fields of maternal race/ethnicity, live birth/fetal death, and plurality; birth outcome date was within 1 day with 94.9% agreement and birth weight was within 100 g with 89.6% agreement. In contrast, sensitivity for report of any birth defect was 38.6%, with a range of 18.4%-50.0%, for specific birth defect categories. Although most SART CORS outcome fields are accurately reported, birth defect variables showed poor sensitivity compared with the gold standard data from the BDMP. We suggest that reporting of birth defects be discontinued. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  8. Birth outcomes among military personnel after exposure to documented open-air burn pits before and during pregnancy.

    Science.gov (United States)

    Conlin, Ava Marie S; DeScisciolo, Connie; Sevick, Carter J; Bukowinski, Anna T; Phillips, Christopher J; Smith, Tyler C

    2012-06-01

    To examine birth outcomes in military women and men with potential exposure to documented open-air burn pits before and during pregnancy. Electronic data from the Department of Defense Birth and Infant Health Registry and the Defense Manpower Data Center were used to examine the prevalence of birth defects and preterm birth among infants of active-duty women and men who were deployed within a 3-mile radius of a documented open-air burn pit before or during pregnancy. In general, burn pit exposure at various times in relation to pregnancy and for differing durations was not consistently associated with an increase in birth defects or preterm birth in infants of active-duty military personnel. These analyses offer reassurance to service members that burn pit exposure is not consistently associated with these select adverse infant health outcomes.

  9. Sleep Disorder Diagnosis During Pregnancy and Risk of Preterm Birth.

    Science.gov (United States)

    Felder, Jennifer N; Baer, Rebecca J; Rand, Larry; Jelliffe-Pawlowski, Laura L; Prather, Aric A

    2017-09-01

    To test the hypothesis that sleep disorder diagnosis would be associated with increased risk of preterm birth and to examine risk by gestational age, preterm birth type, and specific sleep disorder (insomnia, sleep apnea, movement disorder, and other). In this observational study, participants were from a cohort of nearly 3 million women in California between 2007 and 2012. Inclusion criteria were women with singleton neonates liveborn between 20 and 44 weeks of gestation without chromosomal abnormalities or major structural birth defects linked to a hospital discharge database maintained by the California Office of Statewide Health Planning and Development and without mental illness during pregnancy. Sleep disorder was defined based on International Classification of Diseases, 9th Revision, Clinical Modification diagnostic code (n=2,265). Propensity score matching was used to select a referent population at a one-to-one ratio. Odds of preterm birth were examined by gestational age (less than 34 weeks, 34-36 weeks, and less than 37 weeks of gestation) and type (spontaneous, indicated). Prevalence of preterm birth (before 37 weeks of gestation) was 10.9% in the referent group compared with 14.6% among women with a recorded sleep disorder diagnosis. Compared with the referent group, odds (95% CI, P value, percentage) of preterm birth were 1.3 (1.0-1.7, P=.023, 14.1%) for insomnia and 1.5 (1.2-1.8, P<.001, 15.5%) for sleep apnea. Risk varied by gestational age and preterm birth type. Odds of preterm birth were not significantly increased for sleep-related movement disorders or other sleep disorders. Insomnia and sleep apnea were associated with significantly increased risk of preterm birth. Considering the high prevalence of sleep disorders during pregnancy and availability of evidence-based nonpharmacologic interventions, current findings suggest that screening for severe presentations would be prudent.

  10. Birth and death of human β-cells in pancreas from cadaver donors, autopsies, surgical specimens, and islets transplanted into mice

    Science.gov (United States)

    Caballero, Francisco; Siniakowicz, Karolina; Jennifer-Hollister-Lock; Duran, Luisa; Katsuta, Hitoshi; Yamada, Takatsugu; Lei, Ji; Deng, Shaoping; Westermark, Gunilla T.; Markmann, James; Bonner-Weir, Susan; Weir, Gordon C.

    2013-01-01

    There is great interest in the potential of the human endocrine pancreas for regeneration by β-cell replication or neogenesis. Our aim was to explore this potential in adult human pancreases and in both islet and exocrine tissue transplanted into mice. The design was to examine pancreases obtained from cadaver donors, autopsies and fresh surgical specimens and compare these findings with those obtained from islet and duct tissue grafted into the kidney. Islets and exocrine tissue were transplanted into normoglycemic ICR/SCID mice and studied 4 and 14 wk later. β-cell replication as assessed by double staining for insulin and Ki67 was 0.22 ± 0.03 % at 4 wk and 0.13 ± 0.03 % at 14 wk. In contrast, no evidence of β-cell replication could be found in 11 cadaver donor and 10 autopsy pancreases. However, Ki67 staining of β-cells in frozen sections obtained at surgery was comparable to that found in transplanted islets. Evidence for neogenesis in transplanted pancreatic exocrine tissue was supported by finding β-cells within the duct epithelium, and the presence of cells double stained for insulin and cytokeratin 19 (CK19). However, β-cells within the ducts never constituted more than 1% of the CK19 positive cells. With confocal microscopy, 7 of 12 examined cells expressed both markers, consistent with a neogeneic process. Mice with grafts containing islet or exocrine tissue were treated with various combinations exendin-4, gastrin and epidermal growth factor; none increased β-cell replication or stimulated neogenesis. In summary, human β-cells replicate at a low level in islets transplanted into mice and in surgical pancreatic frozen sections but rarely in cadaver donor or autopsy pancreases. The absence of β-cell replication in many adult cadaver or autopsy pancreases could, in part, be an artifact of the postmortem state. Thus, it appears that adult human β-cells maintain a low level of turnover through replication and neogenesis. PMID:23321263

  11. Birth and death of human β-cells in pancreases from cadaver donors, autopsies, surgical specimens, and islets transplanted into mice.

    Science.gov (United States)

    Caballero, Francisco; Siniakowicz, Karolina; Hollister-Lock, Jennifer; Duran, Luisa; Katsuta, Hitoshi; Yamada, Takatsugu; Lei, Ji; Deng, Shaoping; Westermark, Gunilla T; Markmann, James; Bonner-Weir, Susan; Weir, Gordon C

    2014-02-01

    There is great interest in the potential of the human endocrine pancreas for regeneration by β-cell replication or neogenesis. Our aim was to explore this potential in adult human pancreases and in both islet and exocrine tissue transplanted into mice. The design was to examine pancreases obtained from cadaver donors, autopsies, and fresh surgical specimens and compare these findings with those obtained from islet and duct tissue grafted into the kidney. Islets and exocrine tissue were transplanted into normoglycemic ICR-SCID mice and studied 4 and 14 weeks later. β-Cell replication, as assessed by double staining for insulin and Ki67, was 0.22 ± 0.03% at 4 weeks and 0.13 ± 0.03% at 14 weeks. In contrast, no evidence of β-cell replication could be found in 11 cadaver donor and 10 autopsy pancreases. However, Ki67 staining of β-cells in frozen sections obtained at surgery was comparable to that found in transplanted islets. Evidence for neogenesis in transplanted pancreatic exocrine tissue was supported by finding β-cells within the duct epithelium and the presence of cells double stained for insulin and cytokeratin 19 (CK19). However, β-cells within the ducts never constituted more than 1% of the CK19-positive cells. With confocal microscopy, 7 of 12 examined cells expressed both markers, consistent with a neogeneic process. Mice with grafts containing islet or exocrine tissue were treated with various combinations of exendin-4, gastrin, and epidermal growth factor; none increased β-cell replication or stimulated neogenesis. In summary, human β-cells replicate at a low level in islets transplanted into mice and in surgical pancreatic frozen sections, but rarely in cadaver donor or autopsy pancreases. The absence of β-cell replication in many adult cadaver or autopsy pancreases could, in part, be an artifact of the postmortem state. Thus, it appears that adult human β-cells maintain a low level of turnover through replication and neogenesis.

  12. Prenatal lignan exposures, pregnancy urine estrogen profiles and birth outcomes

    International Nuclear Information System (INIS)

    Tang, Rong; Chen, Minjian; Zhou, Kun; Chen, Daozhen; Yu, Jing; Hu, Weiyue; Song, Ling; Hang, Bo; Wang, Xinru; Xia, Yankai

    2015-01-01

    During pregnancy, human exposure to endogenous estrogens and xenoestrogens (such as lignans) may comprehensively impact the gestational maintenance and fetal growth. We measured the concentrations of 5 lignans and the profile of 13 estrogen metabolites (EMs) in the urine samples of 328 pregnant women and examined their associations with birth outcomes. We found significantly positive associations between gestational age and urinary matairesinol (MAT), enterodiol (END) and enterolactone (ENL), as well as 16-hydroxylation pathway EMs. There were consistently positive relationships between END and the 16-hydroxylation pathway EMs. The positive relationships of MAT, END and ENL exposures with the length of gestation were mainly in the low exposure strata of the levels of these EMs. This study reveals that MAT, END and ENL as well as 16-hydroxylation pathway EMs are associated with birth outcomes, and that there are interactive relationships between lignans and 16-hydroxylation pathway EMs with birth outcomes. - Highlights: • We examined relations between prenatal lignan exposures and birth outcomes. • We examined relations between pregnancy urine estrogen profiles and birth outcomes. • MAT, END and ENL are associated with birth outcomes. • 16-hydroxylation pathway EMs are associated with birth outcomes. • There are interactive relationships between ligans and EMs with birth outcomes. - Prenatal lignan exposures and EM levels were interactively related to birth outcomes

  13. Preterm birth, an unresolved issue

    OpenAIRE

    Beliz?n, Jose M; Hofmeyr, Justus; Buekens, Pierre; Salaria, Natasha

    2013-01-01

    Premature birth is the world?s leading cause of neonatal mortality with worldwide estimates indicating 11.1% of all live births were preterm in 2010. Preterm birth rates are increasing in most countries with continual differences in survival rates amongst rich and poor countries. Preterm birth is currently an important unresolved global issue with research efforts focusing on uterine quiescence and activation, the ?omics? approaches and implementation science in order to reduce the incidence ...

  14. Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects.

    Science.gov (United States)

    Shi, Zhiwen; Yang, Xueyan; Li, Bin-Bin; Chen, Shuxia; Yang, Luming; Cheng, Liangping; Zhang, Ting; Wang, Hongyan; Zheng, Yufang

    2018-01-15

    Neural tube defects (NTDs), the second most frequent cause of human congenital abnormalities, are debilitating birth defects due to failure of neural tube closure. It has been shown that noncanonical WNT/planar cell polarity (PCP) signaling is required for convergent extension (CE), the initiation step of neural tube closure (NTC). But the effect of canonical WNT//β-catenin signaling during NTC is still elusive. LRP6 (low density lipoprotein receptor related proteins 6) was identified as a co-receptor for WNT/β-catenin signaling, but recent studies showed that it also can mediate WNT/PCP signaling. In this study, we screened mutations in the LRP6 gene in 343 NTDs and 215 ethnically matched normal controls of Chinese Han population. Three rare missense mutations (c.1514A>G, p.Y505C); c.2984A>G, p.D995G; and c.4280C>A, p.P1427Q) of the LRP6 gene were identified in Chinese NTD patients. The Y505C mutation is a loss-of-function mutation on both WNT/β-catenin and PCP signaling. The D995G mutation only partially lost inhibition on PCP signaling without affecting WNT/β-catenin signaling. The P1427Q mutation dramatically increased WNT/β-catenin signaling but only mildly loss of inhibition on PCP signaling. All three mutations failed to rescue CE defects caused by lrp6 morpholino oligos knockdown in zebrafish. Of interest, when overexpressed, D995G did not induce any defects, but Y505C and P1427Q caused more severe CE defects in zebrafish. Our results suggested that over-active canonical WNT signaling induced by gain-of-function mutation in LRP6 could also contribute to human NTDs, and a balanced WNT/β-catenin and PCP signaling is probably required for proper neural tube development. Birth Defects Research 110:63-71, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  15. Tissue-Specific Methylation of Long Interspersed Nucleotide Element-1 of Homo Sapiens (L1Hs) During Human Embryogenesis and Roles in Neural Tube Defects.

    Science.gov (United States)

    Wang, L; Chang, S; Guan, J; Shangguan, S; Lu, X; Wang, Z; Wu, L; Zou, J; Zhao, H; Bao, Y; Qiu, Z; Niu, B; Zhang, T

    2015-01-01

    Epigenetic regulation of long interspersed nucleotide element-1 (LINE-1) retrotransposition events plays crucial roles during early development. Previously we showed that LINE-1 hypomethylation in neuronal tissues is associated with pathogenesis of neural tube defect (NTD). Herein, we further evaluated LINE-1 Homo sapiens (L1Hs) methylation in tissues derived from three germ layers of stillborn NTD fetuses, to define patterns of tissue specific methylation and site-specific hypomethylation at CpG sites within an L1Hs promoter region. Stable, tissue-specific L1Hs methylation patterns throughout three germ layer lineages of the fetus, placenta, and maternal peripheral blood were observed. Samples from maternal peripheral blood exhibited the highest level of L1Hs methylation (64.95%) and that from placenta showed the lowest (26.82%). Between samples from NTDs and controls, decrease in L1Hs methylation was only significant in NTD-affected brain tissue at 7.35%, especially in females (8.98%). L1Hs hypomethylation in NTDs was also associated with a significant increase in expression level of an L1Hs-encoded transcript in females (r = -0.846, p = 0.004). This could be due to genomic DNA instability and alternation in chromatins accessibility resulted from abnormal L1Hs hypomethylation, as showed in this study with HCT-15 cells treated with methylation inhibitor 5-Aza.

  16. "Braxton Hick's" or the birth of a new era? Tracing the development of Ireland's abortion laws in respect of European Court of Human Rights Jurisprudence.

    Science.gov (United States)

    Daly, Brenda

    2011-09-01

    In Ireland, Article 40.3.3 degrees of Bunreacht na hEireann (the Irish Constitution) guarantees the right to life of the unborn child and the equal right to life of the mother. Abortion in Ireland is permissible only where there is a real and substantial risk to the mother's own life. Since Ireland became a signatory to the European Convention on Human Rights in 1950,2 there have been concerns that it could result in Ireland being compelled to introduce a right to abortion. This article commences with a review of the extant law on abortion in Ireland, tracing the Constitutional protection afforded to the unborn child. The article will discuss the impact of the European Court of Human Rights' jurisprudence in regard to access to abortion and to information on abortion services in Ireland in an effort to ascertain if it really has resulted in a radical change to Irish abortion laws. As such, it will also be necessary to examine the more recent decisions of the ECtHR such as Tysiac v. Poland, and A, B, and C v. Ireland, to determine both the approach of the ECtHR to access to abortion in general and also to consider if it has resulted in a liberalisation of abortion law in Ireland.

  17. Ventricular Septal Defect (VSD)

    Science.gov (United States)

    ... Call your doctor if your baby or child: Tires easily when eating or playing Is not gaining ... heart procedures. Risk factors Ventricular septal defects may run in families and sometimes may occur with other ...

  18. Endocardial cushion defect

    Science.gov (United States)

    ... Philadelphia, PA: Elsevier; 2016:chap 426. Kouchoukos NT, Blackstone EH, Hanley FL, Kirklin JK. Atrioventricular septal defect. In: Kouchoukos NT, Blackstone EH, Hanley FL, Kirklin JK, eds. Kirklin/Barratt- ...

  19. Repairing Nanoparticle Surface Defects

    NARCIS (Netherlands)

    Marino, Emanuele; Kodger, Thomas E.; Crisp, R.W.; Timmerman, Dolf; MacArthur, Katherine E.; Heggen, Marc; Schall, Peter

    2017-01-01

    Solar devices based on semiconductor nanoparticles require the use of conductive ligands; however, replacing the native, insulating ligands with conductive metal chalcogenide complexes introduces structural defects within the crystalline nanostructure that act as traps for charge carriers. We

  20. Point defects in platinum

    International Nuclear Information System (INIS)

    Piercy, G.R.

    1960-01-01

    An investigation was made of the mobility and types of point defect introduced in platinum by deformation in liquid nitrogen, quenching into water from 1600 o C, or reactor irradiation at 50 o C. In all cases the activation energy for motion of the defect was determined from measurements of electrical resistivity. Measurements of density, hardness, and x-ray line broadening were also made there applicable. These experiments indicated that the principal defects remaining in platinum after irradiation were single vacant lattice sites and after quenching were pairs of vacant lattice sites. Those present after deformation In liquid nitrogen were single vacant lattice sites and another type of defect, perhaps interstitial atoms. (author)