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Sample records for syndrome paternal age

  1. Is advanced paternal age a health risk for the offspring?

    Andersen, Anne-Marie Nybo; Urhoj, Stine Kjaer

    2017-01-01

    consistently associated with increased paternal age are stillbirths, musculo-skeletal syndromes, cleft palate, acute lymphoblastic leukemia and retinoblastoma, and neurodevelopmental disorders in the autism spectrum and schizophrenia. Finally, we consider the public health impact of the increasing paternal age...

  2. Case-control analysis of paternal age and trisomic anomalies

    De Souza, E; Morris, David Jackson; Garne, Ester

    2010-01-01

    To determine whether older paternal age increases the risk of fathering a pregnancy with Patau (trisomy 13), Edwards (trisomy 18), Klinefelter (XXY) or XYY syndrome.......To determine whether older paternal age increases the risk of fathering a pregnancy with Patau (trisomy 13), Edwards (trisomy 18), Klinefelter (XXY) or XYY syndrome....

  3. [Influence of paternal age in schizophrenia].

    Hubert, A; Szöke, A; Leboyer, M; Schürhoff, F

    2011-06-01

    Schizophrenia is an aetiologically heterogeneous syndrome, with a strong genetic component. Despite a reduced fertility in this disorder, its prevalence is maintained and could be explained by de novo genetic mutations. Advanced paternal age (APA) is a major source of new mutations in human beings and could thus be associated with an increased risk of developing schizophrenia in offspring. New mutations related to APA have been implicated as a cause of sporadic cases in several autosomal dominant diseases and also in neurodevelopmental diseases, autism, intellectual disabilities, and social functioning. The aim of the present study was to summarize the results of studies investigating the role of APA, and to discuss some interpretations. All relevant studies were identified through the National Library of Medicine (PubMed(®) database). Keywords used for research were "age" and "schizophrenia" linked to "paternal or father". We have identified and analysed eight cohort studies, five case-control studies, two meta-analyses, and one review concerning different father's mutations potentially transmitted, two studies comparing paternal age at conception between sporadic versus familial cases of schizophrenia. All studies selected have been published between 2000 and 2009. After controlling for several confounding factors including maternal age, the relative risk of schizophrenia increased from 1.84 to 4.62 in offspring of fathers with an older age of fatherhood. Mother's age showed no significant effects after adjusting for paternal age. There was a significant association between paternal age and risk of developing schizophrenia, there was a weaker association with psychosis. The results of these different studies are confirmed by two recent meta-analyses which found an increased risk of schizophrenia in offspring of fathers older than 35 years. Two main hypotheses could explain these results. The first one is based on the presence of new mutations in the

  4. Advanced paternal age and stillbirth rate

    Urhøj, Stine Kjær; Andersen, Per Kragh; Mortensen, Laust Hvas

    2017-01-01

    Advanced paternal age has been associated with a variety of rare conditions and diseases of great public health impact. An increased number of de novo point mutations in sperm with increasing age have been suggested as a mechanism, which would likely also affect fetal viability. We examined...... the association between paternal age and stillbirth rate in a large nationwide cohort. We identified all pregnancies in Denmark from 1994 to 2010 carried to a gestational age of at least 22 completed weeks (n = 944,031) as registered in national registers and linked to individual register data about the parents....... The hazard ratio of stillbirth according to paternal age was estimated, adjusted for maternal age in 1-year categories, year of outcome, and additionally parental educational levels. The relative rate of stillbirth (n = 4946) according to paternal age was found to be J-shaped with the highest hazard ratio...

  5. Influence of paternal age on perinatal outcomes.

    Hurley, Emily G; DeFranco, Emily A

    2017-11-01

    There is an increasing trend to delay childbearing to advanced parental age. Increased risks of advanced maternal age and assisted reproductive technologies are widely accepted. There are limited data regarding advanced paternal age. To adequately counsel patients on risk, more research regarding advanced paternal age is necessary. We sought to determine the influence of paternal age on perinatal outcomes, and to assess whether this influence differs between pregnancies achieved spontaneously and those achieved with assisted reproductive technology. A population-based retrospective cohort study of all live births in Ohio from 2006 through 2012 was completed. Data were evaluated to determine if advanced paternal age is associated with an increased risk of adverse outcomes in pregnancies. The analysis was stratified by status of utilization of assisted reproductive technology. Generalized linear regression models assessed the association of paternal age on pregnancy complications in assisted reproductive technology and spontaneously conceived pregnancies, after adjusting for maternal age, race, multifetal gestation, and Medicaid status, using Stata software (Stata, Release 12; StataCorp, College Station, TX). Paternal age was documented in 82.2% of 1,034,552 live births in Ohio during the 7-year study period. Paternal age ranged from 12-87 years, with a median of 30 (interquartile range, 26-35) years. Maternal age ranged from 11-62 years, with a median of 27 (interquartile range, 22-31) years. The use of assisted reproductive technology in live births increased as paternal age increased: 0.1% 60 years, P risk factors, increased paternal age was not associated with a significant increase in the rate of preeclampsia, preterm birth, fetal growth restriction, congenital anomaly, genetic disorder, or neonatal intensive care unit admission. The influence of paternal age on pregnancy outcomes was similar in pregnancies achieved with and without assisted reproductive

  6. Paternal Age Alters Social Development in Offspring.

    Janecka, Magdalena; Haworth, Claire M A; Ronald, Angelica; Krapohl, Eva; Happé, Francesca; Mill, Jonathan; Schalkwyk, Leonard C; Fernandes, Cathy; Reichenberg, Abraham; Rijsdijk, Frühling

    2017-05-01

    Advanced paternal age (APA) at conception has been linked with autism and schizophrenia in offspring, neurodevelopmental disorders that affect social functioning. The current study explored the effects of paternal age on social development in the general population. We used multilevel growth modeling to investigate APA effects on socioemotional development from early childhood until adolescence, as measured by the Strengths and Difficulties Questionnaire (SDQ) in the Twins Early Development Study (TEDS) sample. We also investigated genetic and environmental underpinnings of the paternal age effects on development, using the Additive genetics, Common environment, unique Environment (ACE) and gene-environment (GxE) models. In the general population, both very young and advanced paternal ages were associated with altered trajectory of social development (intercept: p = .01; slope: p = .03). No other behavioral domain was affected by either young or advanced age at fatherhood, suggesting specificity of paternal age effects. Increased importance of genetic factors in social development was recorded in the offspring of older but not very young fathers, suggesting distinct underpinnings of the paternal age effects at these two extremes. Our findings highlight that the APA-related deficits that lead to autism and schizophrenia are likely continuously distributed in the population. Copyright © 2017 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

  7. Longer Duration and Earlier Age of Onset of Paternal Betel Chewing and Smoking Increase Metabolic Syndrome Risk in Human Offspring, Independently, in a Community-Based Screening Program in Taiwan.

    Yen, Amy Ming-Fang; Boucher, Barbara J; Chiu, Sherry Yueh-Hsia; Fann, Jean Ching-Yuan; Chen, Sam Li-Sheng; Huang, Kuo-Chin; Chen, Hsiu-Hsi

    2016-08-02

    Transgenerational effects of paternal Areca catechu nut chewing on offspring metabolic syndrome (MetS) risk in humans, on obesity and diabetes mellitus experimentally, and of paternal smoking on offspring obesity, are reported, likely attributable to genetic and epigenetic effects previously reported in betel-associated disease. We aimed to determine the effects of paternal smoking, and betel chewing, on the risks of early MetS in human offspring. The 13 179 parent-child trios identified from 238 364 Taiwanese aged ≥20 years screened at 2 community-based integrated screening sessions were tested for the effects of paternal smoking, areca nut chewing, and their duration prefatherhood on age of detecting offspring MetS at screen by using a Cox proportional hazards regression model. Offspring MetS risks increased with prefatherhood paternal areca nutusage (adjusted hazard ratio, 1.77; 95% confidence interval [CI], 1.23-2.53) versus nonchewing fathers (adjusted hazard ratio, 3.28; 95% CI, 1.67-6.43) with >10 years paternal betel chewing, 1.62 (95% CI, 0.88-2.96) for 5 to 9 years, and 1.42 (95% CI, 0.80-2.54) for betel usage prefatherhood (Ptrend=0.0002), with increased risk (adjusted hazard ratio, 1.95; 95% CI, 1.26-3.04) for paternal areca nut usage from 20 to 29 years of age, versus from >30 years of age (adjusted hazard ratio,1.61; 95% CI, 0.22-11.69). MetS offspring risk for paternal smoking increased dosewise (Ptrendbetel quid chewing and smoking, prefatherhood, independently predicted early occurrence of incident MetS in offspring, corroborating previously reported transgenerational effects of these habits, and supporting the need for habit-cessation program provision. © 2016 American Heart Association, Inc.

  8. The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level

    Arslan, Ruben C.; Penke, Lars; Johnson, Wendy; Iacono, William G.; McGue, Matt

    2013-01-01

    Paternal age at conception has been found to predict the number of new genetic mutations. We examined the effect of father’s age at birth on offspring intelligence, head circumference and personality traits. Using the Minnesota Twin Family Study sample we tested paternal age effects while controlling for parents’ trait levels measured with the same precision as offspring’s. From evolutionary genetic considerations we predicted a negative effect of paternal age on offspring intelligence, but n...

  9. The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level.

    Arslan, Ruben C; Penke, Lars; Johnson, Wendy; Iacono, William G; McGue, Matt

    2014-01-01

    Paternal age at conception has been found to predict the number of new genetic mutations. We examined the effect of father's age at birth on offspring intelligence, head circumference and personality traits. Using the Minnesota Twin Family Study sample we tested paternal age effects while controlling for parents' trait levels measured with the same precision as offspring's. From evolutionary genetic considerations we predicted a negative effect of paternal age on offspring intelligence, but not on other traits. Controlling for parental intelligence (IQ) had the effect of turning an initially positive association non-significantly negative. We found paternal age effects on offspring IQ and Multidimensional Personality Questionnaire Absorption, but they were not robustly significant, nor replicable with additional covariates. No other noteworthy effects were found. Parents' intelligence and personality correlated with their ages at twin birth, which may have obscured a small negative effect of advanced paternal age (birth order and the Flynn effect.

  10. The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level.

    Ruben C Arslan

    Full Text Available Paternal age at conception has been found to predict the number of new genetic mutations. We examined the effect of father's age at birth on offspring intelligence, head circumference and personality traits. Using the Minnesota Twin Family Study sample we tested paternal age effects while controlling for parents' trait levels measured with the same precision as offspring's. From evolutionary genetic considerations we predicted a negative effect of paternal age on offspring intelligence, but not on other traits. Controlling for parental intelligence (IQ had the effect of turning an initially positive association non-significantly negative. We found paternal age effects on offspring IQ and Multidimensional Personality Questionnaire Absorption, but they were not robustly significant, nor replicable with additional covariates. No other noteworthy effects were found. Parents' intelligence and personality correlated with their ages at twin birth, which may have obscured a small negative effect of advanced paternal age (<1% of variance explained on intelligence. We discuss future avenues for studies of paternal age effects and suggest that stronger research designs are needed to rule out confounding factors involving birth order and the Flynn effect.

  11. Maladaptive Behavior Differences in Prader-Willi Syndrome Due to Paternal Deletion versus Maternal Uniparental Disomy.

    Dykens, Elisabeth M.; King, Bryan H.; Cassidy, Suzanne B.

    1999-01-01

    This study compared maladaptive behavior in 23 people with Prader-Willi syndrome due to paternal deletion and in 23 age- and gender-matched subjects with maternal uniparental disomy. Controlling for IQs, the deletion cases showed significantly higher maladaptive ratings, more symptom-related distress, and more behavior problems. Findings suggest a…

  12. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H.

    2011-01-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents’ speech directed to children was obtained through observation of naturalistic parent–child dyadic interactions. Verbatim transcripts of m...

  13. Advancing paternal age and schizophrenia: the impact of delayed fatherhood.

    Ek, Mats; Wicks, Susanne; Svensson, Anna C; Idring, Selma; Dalman, Christina

    2015-05-01

    It is well known that advancing paternal age is associated with an increased risk of schizophrenia in offspring, but the mechanism behind this association remains unknown. This study investigates if delayed fatherhood rather than advancing paternal age per se might explain the increased risk of schizophrenia in offspring associated with advancing paternal age. This is a register-based study of the Swedish population looking at people born 1955-1985 who have 1 or 2 siblings (n = 2 589 502). The main analysis investigated whether the association between advancing paternal age and schizophrenia was explained by delayed fatherhood. Possible confounding factors were taken into account. Cox regression was used throughout. In the main analysis the association between advancing paternal age and increased risk of schizophrenia in offspring disappeared after controlling for delayed fatherhood (hazard ratio [HR] = 0.93, 95% CI = 0.72-1.21 comparing 45+ years old fathers to those 25-29), whereas delayed fatherhood showed an association with increased risk of schizophrenia in offspring comparing 35-39 and 40-44 years old fathers to 25-29 year olds (HR = 1.37, 95% CI = 1.18-1.58; HR = 1.81, 95% CI = 1.44-2.28, respectively). The results remained when controlling for possible confounders. This study suggests that the association between paternal age and schizophrenia is not due to paternal age per se, but rather to an unknown factor associated with both delayed fatherhood and schizophrenia. © The Author 2014. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  14. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development.

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H

    2011-02-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents' speech directed to children was obtained through observation of naturalistic parent-child dyadic interactions. Verbatim transcripts of maternal and paternal language were categorized in terms of the primary function of each speech unit. Parents (both mothers and fathers) of children with Down syndrome used more affect-salient speech compared to parents of typically developing children. Although parents used the same amounts of information-salient speech, parents of children with Down syndrome used more direct statements and asked fewer questions than did parents of typically developing children. Concerning parent gender, in both groups mothers used more language than fathers and specifically more descriptions. These findings held controlling for child age and MLU and family SES. This study highlights strengths and weaknesses of parental communication to children with Down syndrome and helps to identify areas of potential improvement through intervention. Copyright © 2010 Elsevier Inc. All rights reserved.

  15. The Effect of Paternal Age on Offspring Intelligence and Personality when Controlling for Parental Trait Levels

    Arslan, Ruben C.; Penke, Lars; Johnson, Wendy; Iacono, William G.; McGue, Matt

    2014-01-01

    Paternal age at conception has been found to predict the number of new genetic mutations. We examined the effect of father’s age at birth on offspring intelligence, head circumference and personality traits. Using the Minnesota Twin Family Study sample we tested paternal age effects while controlling for parents’ trait levels measured with the same precision as offspring’s. From evolutionary genetic considerations we predicted a negative effect of paternal age on offspring intelligence, but not on other traits. Controlling for parental intelligence (IQ) had the effect of turning an initially positive association non-significantly negative. We found paternal age effects on offspring IQ and Multidimensional Personality Questionnaire Absorption, but they were not robustly significant, nor replicable with additional covariates. No other noteworthy effects were found. Parents’ intelligence and personality correlated with their ages at twin birth, which may have obscured a small negative effect of advanced paternal age (birth order and the Flynn effect. PMID:24587224

  16. Advanced paternal age and risk of fetal death: a cohort study

    Nybo Andersen, Anne-Marie; Hansen, Kasper Daniel; Andersen, Per Kragh

    2004-01-01

    Cohort from 1997 to 1999 to assess the association between paternal age and fetal death. Fathers of the pregnancies were identified by record linkage to population registers. The paternal age-related risks of fetal death and its components, early and late fetal loss, were estimated using survival......A possible detrimental paternal age effect on offspring health due to mutations of paternal origin should be reflected in an association between paternal age and fetal loss. The authors used data from a prospective study of 23,821 pregnant women recruited consecutively to the Danish National Birth...... analysis. Pregnancies fathered by a man aged 50 or more years (n = 124) had almost twice the risk of ending in a fetal loss compared with pregnancies with younger fathers (hazard ratio = 1.88, 95% confidence interval: 0.93, 3.82), after adjustment for maternal age, reproductive history, and maternal...

  17. Brief Report: Phenotypic Differences and Their Relationship to Paternal Age and Gender in Autism Spectrum Disorder

    Vierck, Esther; Silverman, Jeremy M.

    2015-01-01

    Two modes of inheritance have been proposed in autism spectrum disorder, transmission though pre-existing variants and de novo mutations. Different modes may lead to different symptom expressions in affected individuals. De novo mutations become more likely with advancing paternal age suggesting that paternal age may predict phenotypic…

  18. Maternal and paternal age, birth order and interpregnancy interval evaluation for cleft lip-palate.

    Martelli, Daniella Reis Barbosa; Cruz, Kaliany Wanessa da; Barros, Letízia Monteiro de; Silveira, Marise Fernandes; Swerts, Mário Sérgio Oliveira; Martelli Júnior, Hercílio

    2010-01-01

    Cleft lip and palate (CL/P) are the most common congenital craniofacial anomalies. To evaluate environmental risk factors for non-syndromic CL/P in a reference care center in Minas Gerais. we carried out a case-controlled study, assessing 100 children with clefts and 100 children without clinical alterations. The analysis dimensions (age, skin color, gender, fissure classification, maternal and paternal age, birth order and interpregnancy interval), obtained from a questionnaire; and later we build a data base and the analyses were carried out by the SPSS 17.0 software. The results were analyzed with the relative risk for each variable, in order to estimate the odds ratio with a 95% confidence interval, followed by a bivariate and multivariate analysis. among 200 children, 54% were males and 46% were females. As far as skin color is concerned most were brown, white and black, respectively. Cleft palates were the most common fissures found (54%), followed by lip cleft (30%) and palate cleft (16%). although with a limited sample, we noticed an association between maternal age and an increased risk for cleft lip and palate; however, paternal age, pregnancy order and interpregnancy interval were not significant.

  19. Adoptive paternal age and risk of psychosis in adoptees: a register based cohort study.

    Mats Ek

    Full Text Available The association between advancing paternal age and increased risk of schizophrenia in the off-spring is well established. The underlying mechanisms are unknown. In order to investigate whether the psychosocial environment associated with growing up with an aged father explains the increased risk we conducted a study of all adoptive children in Sweden from 1955-1985 (n =31 188. Their risk of developing schizophrenia or non-affective psychosis in relation to advancing age of their adoptive fathers' was examined. We found no association between risk of psychoses and advancing adoptive paternal age. There was no support of psychosocial environmental factors explaining the "paternal age effect".

  20. Advanced paternal age and mortality of offspring under 5 years of age

    Urhoj, S K; Jespersen, Louise Norman; Nissen, Marie

    2014-01-01

    Study question: Do children born to fathers of advanced age have an increased risk of dying before the age of 5 years? Summary answer: Children born to fathers aged 40 years or more have an increased risk of dying in early childhood due to an excess risk of fatal congenital anomalies, malignancies...... and external causes. What is known already: Advanced paternal age has previously been associated with adverse reproductive outcomes and some long term health problems in the offspring. This is possibly due to specific point mutations, a condition known to increase in the sperm with increasing paternal age....... Study design, size, duration: A Danish population-based register study, designed as a prospective cohort study, of 1 575 521 live born children born from 1978 to 2004. The age of the child (in days) was used as the underlying time and the children entered the cohort the day they were born and were...

  1. Is there an association between advanced paternal age and endophenotype deficit levels in schizophrenia?

    Tsuang, Debby; Esterberg, Michelle; Braff, David; Calkins, Monica; Cadenhead, Kristin; Dobie, Dorcas; Freedman, Robert; Green, Michael F; Greenwood, Tiffany; Gur, Raquel; Gur, Ruben; Horan, William; Lazzeroni, Laura C; Light, Gregory A; Millard, Steven P; Olincy, Ann; Nuechterlein, Keith; Seidman, Larry; Siever, Larry; Silverman, Jeremy; Stone, William; Sprock, Joyce; Sugar, Catherine; Swerdlow, Neal; Tsuang, Ming; Turetsky, Bruce; Radant, Allen

    2014-01-01

    The children of older fathers have increased risks of developing schizophrenia spectrum disorders, and among those who develop these disorders, those with older fathers present with more severe clinical symptoms. However, the influence of advanced paternal age on other important domains related to schizophrenia, such as quantitative endophenotype deficit levels, remains unknown. This study investigated the associations between paternal age and level of endophenotypic impairment in a well-characterized family-based sample from the Consortium on the Genetics of Schizophrenia (COGS). All families included at least one affected subject and one unaffected sibling. Subjects met criteria for schizophrenia (probands; n = 293) or were unaffected first-degree siblings of those probands (n = 382). Paternal age at the time of subjects' birth was documented. Subjects completed a comprehensive clinical assessment and a battery of tests that measured 16 endophenotypes. After controlling for covariates, potential paternal age-endophenotype associations were analyzed using one model that included probands alone and a second model that included both probands and unaffected siblings. Endophenotype deficits in the Identical Pairs version of the 4-digit Continuous Performance Test and in the Penn Computerized Neurocognitive Battery verbal memory test showed significant associations with paternal age. However, after correcting for multiple comparisons, no endophenotype was significantly associated with paternal age. These findings suggest that factors other than advanced paternal age at birth may account for endophenotypic deficit levels in schizophrenia.

  2. Is there an association between advanced paternal age and endophenotype deficit levels in schizophrenia?

    Debby Tsuang

    Full Text Available The children of older fathers have increased risks of developing schizophrenia spectrum disorders, and among those who develop these disorders, those with older fathers present with more severe clinical symptoms. However, the influence of advanced paternal age on other important domains related to schizophrenia, such as quantitative endophenotype deficit levels, remains unknown. This study investigated the associations between paternal age and level of endophenotypic impairment in a well-characterized family-based sample from the Consortium on the Genetics of Schizophrenia (COGS. All families included at least one affected subject and one unaffected sibling. Subjects met criteria for schizophrenia (probands; n = 293 or were unaffected first-degree siblings of those probands (n = 382. Paternal age at the time of subjects' birth was documented. Subjects completed a comprehensive clinical assessment and a battery of tests that measured 16 endophenotypes. After controlling for covariates, potential paternal age-endophenotype associations were analyzed using one model that included probands alone and a second model that included both probands and unaffected siblings. Endophenotype deficits in the Identical Pairs version of the 4-digit Continuous Performance Test and in the Penn Computerized Neurocognitive Battery verbal memory test showed significant associations with paternal age. However, after correcting for multiple comparisons, no endophenotype was significantly associated with paternal age. These findings suggest that factors other than advanced paternal age at birth may account for endophenotypic deficit levels in schizophrenia.

  3. Is There an Association between Advanced Paternal Age and Endophenotype Deficit Levels in Schizophrenia?

    Tsuang, Debby; Esterberg, Michelle; Braff, David; Calkins, Monica; Cadenhead, Kristin; Dobie, Dorcas; Freedman, Robert; Green, Michael F.; Greenwood, Tiffany; Gur, Raquel; Gur, Ruben; Horan, William; Lazzeroni, Laura C.; Light, Gregory A.; Millard, Steven P.; Olincy, Ann; Nuechterlein, Keith; Seidman, Larry; Siever, Larry; Silverman, Jeremy; Stone, William; Sprock, Joyce; Sugar, Catherine; Swerdlow, Neal; Tsuang, Ming; Turetsky, Bruce; Radant, Allen

    2014-01-01

    The children of older fathers have increased risks of developing schizophrenia spectrum disorders, and among those who develop these disorders, those with older fathers present with more severe clinical symptoms. However, the influence of advanced paternal age on other important domains related to schizophrenia, such as quantitative endophenotype deficit levels, remains unknown. This study investigated the associations between paternal age and level of endophenotypic impairment in a well-characterized family-based sample from the Consortium on the Genetics of Schizophrenia (COGS). All families included at least one affected subject and one unaffected sibling. Subjects met criteria for schizophrenia (probands; n = 293) or were unaffected first-degree siblings of those probands (n = 382). Paternal age at the time of subjects’ birth was documented. Subjects completed a comprehensive clinical assessment and a battery of tests that measured 16 endophenotypes. After controlling for covariates, potential paternal age–endophenotype associations were analyzed using one model that included probands alone and a second model that included both probands and unaffected siblings. Endophenotype deficits in the Identical Pairs version of the 4-digit Continuous Performance Test and in the Penn Computerized Neurocognitive Battery verbal memory test showed significant associations with paternal age. However, after correcting for multiple comparisons, no endophenotype was significantly associated with paternal age. These findings suggest that factors other than advanced paternal age at birth may account for endophenotypic deficit levels in schizophrenia. PMID:24523888

  4. Paternal age related schizophrenia (PARS): Latent subgroups detected by k-means clustering analysis.

    Lee, Hyejoo; Malaspina, Dolores; Ahn, Hongshik; Perrin, Mary; Opler, Mark G; Kleinhaus, Karine; Harlap, Susan; Goetz, Raymond; Antonius, Daniel

    2011-05-01

    Paternal age related schizophrenia (PARS) has been proposed as a subgroup of schizophrenia with distinct etiology, pathophysiology and symptoms. This study uses a k-means clustering analysis approach to generate hypotheses about differences between PARS and other cases of schizophrenia. We studied PARS (operationally defined as not having any family history of schizophrenia among first and second-degree relatives and fathers' age at birth ≥ 35 years) in a series of schizophrenia cases recruited from a research unit. Data were available on demographic variables, symptoms (Positive and Negative Syndrome Scale; PANSS), cognitive tests (Wechsler Adult Intelligence Scale-Revised; WAIS-R) and olfaction (University of Pennsylvania Smell Identification Test; UPSIT). We conducted a series of k-means clustering analyses to identify clusters of cases containing high concentrations of PARS. Two analyses generated clusters with high concentrations of PARS cases. The first analysis (N=136; PARS=34) revealed a cluster containing 83% PARS cases, in which the patients showed a significant discrepancy between verbal and performance intelligence. The mean paternal and maternal ages were 41 and 33, respectively. The second analysis (N=123; PARS=30) revealed a cluster containing 71% PARS cases, of which 93% were females; the mean age of onset of psychosis, at 17.2, was significantly early. These results strengthen the evidence that PARS cases differ from other patients with schizophrenia. Hypothesis-generating findings suggest that features of PARS may include a discrepancy between verbal and performance intelligence, and in females, an early age of onset. These findings provide a rationale for separating these phenotypes from others in future clinical, genetic and pathophysiologic studies of schizophrenia and in considering responses to treatment. Copyright © 2011 Elsevier B.V. All rights reserved.

  5. Implications of advancing paternal age: does it affect offspring school performance?

    Anna C Svensson

    Full Text Available Average paternal age is increasing in many high income countries, but the implications of this demographic shift for child health and welfare are poorly understood. There is equivocal evidence that children of older fathers are at increased risk of neurodevelopmental disorders and reduced IQ. We therefore report here on the relationship between paternal age and a composite indicator of scholastic achievement during adolescence, i.e. compulsory school leaving grades, among recent birth cohorts in Stockholm County where delayed paternity is notably common. We performed a record-linkage study comprising all individuals in Stockholm County who finished 9 years of compulsory school from 2000 through 2007 (n = 155,875. Data on school leaving grades and parental characteristics were retrieved from administrative and health service registers and analyzed using multiple linear regression. Advancing paternal age at birth was not associated with a decrease in school leaving grades in adolescent offspring. After adjustment for year of graduation, maternal age and parental education, country of birth and parental mental health service use, offspring of fathers aged 50 years or older had on average 0.3 (95% CI -3.8, 4.4 points higher grades than those of fathers aged 30-34 years. In conclusion, advancing paternal age is not associated with poorer school performance in adolescence. Adverse effects of delayed paternity on offspring cognitive function, if any, may be counterbalanced by other potential advantages for children born to older fathers.

  6. The relation between maternal schizophrenia and low birth weight is modified by paternal age.

    Lin, Herng-Ching; Lee, Hsin-Chien; Tang, Chao-Hsuin; Chen, Yi-Hua

    2010-06-01

    Paternal characteristics have never been considered in the relation between maternal schizophrenia and adverse pregnancy outcomes. The aim of our study was to consider different paternal ages while investigating the relation between maternal schizophrenia and low birth weight (LBW), using a nationwide population-based dataset. Our study used data from the 2001 to 2003 Taiwan National Health Insurance Research Dataset and birth certificate registry. A total of 543 394 singleton live births were included. We performed multivariate logistic regression analyses to explore the relation between maternal schizophrenia and the risk of LBW, taking different paternal age groups into account (aged 29 years or younger, 30 to 39 years, and 40 years and older), and after adjusting for other characteristics of infant, mother, and father as well as the difference between the parent's ages. Mothers with schizophrenia had a higher percentage of LBW infants than mothers who did not (11.8%, compared with 6.8%). For infants whose mothers had schizophrenia, the adjusted odds ratios of LBW were 1.47 (95% CI 1.02 to 2.27, P paternal age groups of 30 to 39 years and 40 years or older, respectively. However, maternal schizophrenia was not a significant predictor of LBW for infants whose fathers were aged 29 years and younger. The relation between LBW and maternal schizophrenia is modified by paternal age. More attention should be paid to the interaction of paternal characteristics and maternal psychiatric disorders in producing adverse pregnancy outcomes.

  7. Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors.

    Mills, Melissa B; Hudgins, Louanne; Balise, Raymond R; Abramson, David H; Kleinerman, Ruth A

    2012-07-01

    Autosomal dominant conditions are known to be associated with advanced paternal age, and it has been suggested that retinoblastoma (Rb) also exhibits a paternal age effect due to the paternal origin of most new germline RB1 mutations. To further our understanding of the association of parental age and risk of de novo germline RB1 mutations, we evaluated the effect of parental age in a cohort of Rb survivors in the United States. A cohort of 262 Rb patients was retrospectively identified at one institution, and telephone interviews were conducted with parents of 160 survivors (65.3%). We classified Rb survivors into three groups: those with unilateral Rb were classified as sporadic if they had no or unknown family history of Rb, those with bilateral Rb were classified as having a de novo germline mutation if they had no or unknown family history of Rb, and those with unilateral or bilateral Rb, who had a family history of Rb, were classified as familial. We built two sets of nested logistic regression models to detect an increased odds of the de novo germline mutation classification related to older parental age compared to sporadic and familial Rb classifications. The modeling strategy evaluated effects of continuous increasing maternal and paternal age and 5-year age increases adjusted for the age of the other parent. Mean maternal ages for survivors classified as having de novo germline mutations and sporadic Rb were similar (28.3 and 28.5, respectively) as were mean paternal ages (31.9 and 31.2, respectively), and all were significantly higher than the weighted general US population means. In contrast, maternal and paternal ages for familial Rb did not differ significantly from the weighted US general population means. Although we noted no significant differences between mean maternal and paternal ages between each of the three Rb classification groups, we found increased odds of a survivor being in the de novo germline mutation group for each 5-year increase in

  8. Offspring's Leukocyte Telomere Length, Paternal Age, and Telomere Elongation in Sperm

    Kimura, Masayuki; Cherkas, Lynn F; Kato, Bernet S

    2008-01-01

    ), the NHLBI Family Heart Study (NHLBI-Heart), the Longitudinal Study of Aging Danish Twins (Danish Twins), and the UK Adult Twin Registry (UK Twins). Using Southern blots, Q-FISH, and flow-FISH, we also measured telomere parameters in sperm from 46 young (50 years) donors. Paternal age...... had an independent effect, expressed by a longer LTL in males of the Framingham Offspring and Danish Twins, males and females of the NHLBI-Heart, and females of UK Twins. For every additional year of paternal age, LTL in offspring increased at a magnitude ranging from half to more than twice......Leukocyte telomere length (LTL) is a complex genetic trait. It shortens with age and is associated with a host of aging-related disorders. Recent studies have observed that offspring of older fathers have longer LTLs. We explored the relation between paternal age and offspring's LTLs in 4 different...

  9. Paternal and maternal age at pregnancy and autism spectrum disorders in offspring

    Luh Putu Rihayani Budi

    2016-11-01

    Full Text Available Background The prevalence of autism spectrum disorders (ASDs has increased 10 times over the past half century, while paternal and maternal age at pregnancy has also increased. Studies looking for an association between paternal or maternal age at pregnancy and ASDs in offspring have not been conclusive. Objective To assess for possible associations between paternal and maternal age at pregnancy and ASDs in offspring. Methods This case-control study had 50 case and 100 control subjects, each case was matched for age and gender to two controls. Case subjects were obtained by consecutive sampling of patients aged 18 months to 7 years who visited the Developmental Behavioral & Community Pediatrics Outpatient Clinic and private growth and development centers from January to April 2013, while control group were children of the same age range and same gender who visited pediatric outpatient clinic at Sanglah Hospital mostly due to acute respiratory tract infection, without ASDs as assessed by the DSM-IV-TR criteria. We interviewed parents to collect the following data: maternal and paternal age at pregnancy, child’s birth weight, history of asphyxia, hospital admission during the neonatal period, pathological labor, maternal smoking during pregnancy, paternal smoking, and gestational age. Data analysis was performed with Chi-square and Fisher’s exact tests. Results Multivariable analysis showed that higher paternal age at pregnancy was associated with ASDs in offspring (OR 6.3; 95%CI 2.0 to 19.3; P 0.001. However, there was no significant association between maternal age during pregnancy and the incidence of ASDs. Asphyxia and paternal smoking were also associated with higher incidence of ASDs in the offspring (OR 10.3; 95%CI 1.9 to 56.5; P 0.007 and OR 3.2; 95%CI 1.5 to 6.9; P 0.003, respectively. Conclusion Paternal age >=40 years increased the risk of ASDs in offspring by 6.3 times. In addition, paternal smoking increased the risk of ASDs in

  10. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta

    Orioli, I.M. [Universidade Federal do Rio de Janeiro (Brazil); Castilla, E.E. [Centro de Educacion Medica e Investigacion Clinica, Buenos Aires (Argentina); Scarano, G.; Mastroiacovo, P. [Universita Cattolica, Rome (Italy)

    1995-11-06

    The paternal ages of nonfamilial cases of achondroplasia (AC) (n = 78), thanatophoric dysplasia (TD) (n = 64), and osteogenesis imperfecta (OI) (n = 106), were compared with those of matched controls, from an Italian Indagine Policentrica Italiana sulle Malformazioni Congenite (IPIMC) and a South American Estudio Colaborativo Latinoamericano de Malformaciones Congenitas (ECLAMC) series. The degree of paternal age effect on the origin of these dominant mutations differed among the three conditions. Mean paternal age was highly elevated in AC, 36.30 {plus_minus} 6.74 years in the IPIMC, and 37.19 {plus_minus} 10.53 years in the ECLAMC; less consistently elevated in TD, 33.60 {plus_minus} 7.08 years in the IPIMC, and 36.41 {plus_minus} 9.38 years in the ECLAMC; and only slightly elevated in OI in the ECLAMC, 31.15 {plus_minus} 9.25 years, but not in the IPIMC, 32.26 {plus_minus} 6.07 years. Increased maternal age or birth order in these conditions disappeared when corrected for paternal age. Approximately 50% of AC and TD cases, and only 30% of OI cases, were born to fathers above age 35 years. For AC and TD, the increase in relative incidence with paternal age fitted an exponential curve. The variability of paternal age effect in these new mutations could be due, among other reasons, to the high proportion of germ-line mosaicism in OI parents, or to the localization of the AC gene, mapped to the 4p16.3 region, in the neighborhood of an unstable DNA area. 28 refs., 1 fig., 6 tabs.

  11. Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals.

    Simon L Girard

    Full Text Available De novo mutations (DNM are an important source of rare variants and are increasingly being linked to the development of many diseases. Recently, the paternal age effect has been the focus of a number of studies that attempt to explain the observation that increasing paternal age increases the risk for a number of diseases. Using disease-free familial quartets we show that there is a strong positive correlation between paternal age and germline DNM in healthy subjects. We also observed that germline CNVs do not follow the same trend, suggesting a different mechanism. Finally, we observed that DNM were not evenly distributed across the genome, which adds support to the existence of DNM hotspots.

  12. Advanced paternal age is associated with impaired neurocognitive outcomes during infancy and childhood.

    Sukanta Saha

    2009-03-01

    Full Text Available BACKGROUND: Advanced paternal age (APA is associated with an increased risk of neurodevelopmental disorders such as autism and schizophrenia, as well as with dyslexia and reduced intelligence. The aim of this study was to examine the relationship between paternal age and performance on neurocognitive measures during infancy and childhood. METHODS AND FINDINGS: A sample of singleton children (n = 33,437 was drawn from the US Collaborative Perinatal Project. The outcome measures were assessed at 8 mo, 4 y, and 7 y (Bayley scales, Stanford Binet Intelligence Scale, Graham-Ernhart Block Sort Test, Wechsler Intelligence Scale for Children, Wide Range Achievement Test. The main analyses examined the relationship between neurocognitive measures and paternal or maternal age when adjusted for potential confounding factors. Advanced paternal age showed significant associations with poorer scores on all of the neurocognitive measures apart from the Bayley Motor score. The findings were broadly consistent in direction and effect size at all three ages. In contrast, advanced maternal age was generally associated with better scores on these same measures. CONCLUSIONS: The offspring of older fathers show subtle impairments on tests of neurocognitive ability during infancy and childhood. In light of secular trends related to delayed fatherhood, the clinical implications and the mechanisms underlying these findings warrant closer scrutiny.

  13. Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

    Gyftodimou, J; Karadima, G; Pandelia, E; Vassilopoulos, D; Petersen, M B

    1999-06-01

    We report a case of Angelman syndrome (AS) with paternal uniparental disomy (pUPD) of chromosome 15. This 6-year-old girl with overgrowth had frequent, but only provoked laughter, was mildly ataxic with limb hypertonia, and had no intelligible speech. She had deep-set eyes, protruding tongue, and prominent chin. The karyotype was normal. DNA analysis with microsatellites from chromosome 15 showed no inheritance of maternal alleles both within and outside the AS critical region. Proximal markers showed reduction to homozygosity of paternal alleles, intermediate markers showed nonreduction, and distal markers reduction, thus suggesting a meiosis II nondisjunction event in the father with two crossovers. This is, to our knowledge, the first reported case of AS due to meiosis II nondisjunction. We present detailed physical measurements in this patient, adding to the clinical description of the milder phenotype in AS due to pUPD.

  14. Meta-analysis of paternal age and schizophrenia risk in male versus female offspring.

    Miller, Brian; Messias, Erick; Miettunen, Jouko; Alaräisänen, Antti; Järvelin, Marjo-Riita; Koponen, Hannu; Räsänen, Pirkko; Isohanni, Matti; Kirkpatrick, Brian

    2011-09-01

    Advanced paternal age (APA) is a reported risk factor for schizophrenia in the offspring. We performed a meta-analysis of this association, considering the effect of gender and study design. We identified articles by searching Pub Med, PsychInfo, ISI, and EMBASE, and the reference lists of identified studies. Previously unpublished data from the Northern Finland 1966 Birth Cohort (NFBC 1966) study were also included. There were 6 cohort studies and 6 case-control studies that met the inclusion criteria. In both study designs, there was a significant increase in risk of schizophrenia in the offspring of older fathers (≥30) compared to a reference paternal age of 25-29, with no gender differences. The relative risk (RR) in the oldest fathers (≥50) was 1.66 [95% confidence interval (95% CI): 1.46-1.89, P APA (≥30) and younger paternal age (<25) increase the risk of schizophrenia; younger paternal age may be associated with an increased risk in males but not females. This risk factor increases the risk of schizophrenia as much as any single candidate gene of risk. The mechanism of these associations is not known and may differ for older and younger fathers.

  15. Paternal age at birth is associated with offspring leukocyte telomere length in the nurses' health study.

    Prescott, J; Du, M; Wong, J Y Y; Han, J; De Vivo, I

    2012-12-01

    Is the association between paternal age at birth and offspring leukocyte telomere length (LTL) an artifact of early life socioeconomic status (SES)? Indicators of early life SES did not alter the relationship between paternal age at birth and offspring LTL among a population of white female nurses. Telomere length is considered a highly heritable trait. Recent studies report a positive correlation between paternal age at birth and offspring LTL. Maternal age at birth has also been positively associated with offspring LTL, but may stem from the strong correlation with paternal age at birth. The Nurses' Health Study (NHS) is an ongoing prospective cohort study of 121 700 female registered nurses who were enrolled in 1976. Great effort goes into maintaining a high degree of follow-up among our cohort participants (>95% of potential person-years). In 1989-1990, a subset of 32 826 women provided blood samples from which we selected participants for several nested case-control studies of telomere length and incident chronic disease. We used existing LTL data on a total of 4250 disease-free women who also reported maternal and paternal age at birth for this study. Nested case-control studies of stroke, myocardial infarction, cancers of the breast, endometrium, skin, pancreas and colon, as well as colon adenoma, were conducted within the blood sub-cohort. Each study used the following study design: for each case of a disease diagnosed after blood collection, a risk-set sampling scheme was used to select from one to three controls from the remaining participants in the blood sub-cohort who were free of that disease when the case was diagnosed. Controls were matched to cases by age at blood collection (± 1 year), date of blood collection (± 3 months), menopausal status, recent postmenopausal hormone use at blood collection (within 3 months, except for the myocardial infarction case-control study), as well as other factors carefully chosen for each individual study. The

  16. Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms.

    Janecka, M; Mill, J; Basson, M A; Goriely, A; Spiers, H; Reichenberg, A; Schalkwyk, L; Fernandes, C

    2017-01-31

    Multiple epidemiological studies suggest a relationship between advanced paternal age (APA) at conception and adverse neurodevelopmental outcomes in offspring, particularly with regard to increased risk for autism and schizophrenia. Conclusive evidence about how age-related changes in paternal gametes, or age-independent behavioral traits affect neural development is still lacking. Recent evidence suggests that the origins of APA effects are likely to be multidimensional, involving both inherited predisposition and de novo events. Here we provide a review of the epidemiological and molecular findings to date. Focusing on the latter, we present the evidence for genetic and epigenetic mechanisms underpinning the association between late fatherhood and disorder in offspring. We also discuss the limitations of the APA literature. We propose that different hypotheses relating to the origins of the APA effects are not mutually exclusive. Instead, multiple mechanisms likely contribute, reflecting the etiological complexity of neurodevelopmental disorders.

  17. Paternal age effect: Replication in schizophrenia with intriguing dissociation between bipolar with and without psychosis.

    Lehrer, Douglas S; Pato, Michele T; Nahhas, Ramzi W; Miller, Brian R; Malaspina, Dolores; Buckley, Peter F; Sobell, Janet L; Walsh-Messinger, Julie; Genomic Psychiatry Cohort Consortium; Pato, Carlos N

    2016-06-01

    Advanced paternal age (APA) is a risk factor for schizophrenia (Sz) and bipolar disorder (BP). Putative mechanisms include heritable genetic factors, de novo mutations, and epigenetic mechanisms. Few studies have explored phenotypic features associated with APA. The Genomic Psychiatry Cohort established a clinically characterized repository of genomic samples from subjects with a Sz-BP diagnosis or unaffected controls, 12,975 with parental age information. We estimated relative risk ratios for Sz, schizoaffective depressed and bipolar types (SA-D, SA-B), and BP with and without history of psychotic features (PF) relative to the control group, comparing each paternal age group to the reference group 20-24 years. All tests were two-sided with adjustment for multiple comparisons. Subjects with fathers age 45+ had significantly higher risk for all diagnoses except for BP w/o PF. APA also bore no significant relation to family psychiatric history. In conclusion, we replicated APA as a risk factor for Sz. To our knowledge, this is the first published report of APA in a BP sample stratified by psychosis history, extending this association only in BP w/PF. This suggests that phenotypic expression of the APA effect in Sz-BP spectrum is psychosis, per se, rather than other aspects of these complex disorders. The lack of a significant relationship between paternal age and familial disease patterns suggests that underlying mechanisms of the paternal age effect may involve a complex interaction of heritable and non-heritable factors. The authors discuss implications and testable hypotheses, starting with a focus on genetic mechanisms and endophenotypic expressions of dopaminergic function. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  18. Advancing paternal age and offspring violent offending: a sibling-comparison study.

    Kuja-Halkola, Ralf; Pawitan, Yudi; D'Onofrio, Brian M; Långström, Niklas; Lichtenstein, Paul

    2012-08-01

    Children born to older fathers are at higher risk to develop severe psychopathology (e.g., schizophrenia and bipolar disorder), possibly because of increased de novo mutations during spermatogenesis with older paternal age. Because severe psychopathology is correlated with antisocial behavior, we examined possible associations between advancing paternal age and offspring violent offending. Interlinked Swedish national registers provided information on fathers' age at childbirth and violent criminal convictions in all offspring born from 1958 to 1979 (N = 2,359,921). We used ever committing a violent crime and number of violent crimes as indices of violent offending. The data included information on multiple levels; we compared differentially exposed siblings in within-family analyses to rigorously test causal influences. In the entire population, advancing paternal age predicted offspring violent crime according to both indices. Congruent with a causal effect, this association remained for rates of violent crime in within-family analyses. However, in within-family analyses, we found no association with ever committing a violent crime, suggesting that factors shared by siblings (genes and environment) confounded this association. Life-course persistent criminality has been proposed to have a partly biological etiology; our results agree with a stronger biological effect (i.e., de novo mutations) on persistent violent offending.

  19. New Perspectives on Rodent Models of Advanced Paternal Age: Relevance to Autism

    Claire J Foldi

    2011-06-01

    Full Text Available Offspring of older fathers have an increased risk of various adverse health outcomes, including autism and schizophrenia. With respect to biological mechanisms for this association, there are many more germline cell divisions in the life history of a sperm relative to that of an oocyte. This leads to more opportunities for copy error mutations in germ cells from older fathers. Evidence also suggests that epigenetic patterning in the sperm from older men is altered. Rodent models provide an experimental platform to examine the association between paternal age and brain development. Several rodent models of advanced paternal age (APA have been published with relevance to intermediate phenotypes related to autism. All four published APA models vary in key features creating a lack of consistency with respect to behavioural phenotypes. A consideration of common phenotypes that emerge from these APA-related mouse models may be informative in the exploration of the molecular and neurobiological correlates of APA.

  20. Age- and tactic-related paternity success in male African elephants

    Rasmussen, Henrik Barner; Okello, J. B. A.; Wittemyer, G.

    2008-01-01

    on age- and tactic-specific paternity success in male African elephants are the first from a free-ranging population and demonstrate that paternity success increases dramatically with age, with the small number of older bulls in the competitive state of musth being the most successful sires. However......, nonmusth males sired 20% of genotyped calves, and 60% of mature bulls (>20 years old) were estimated to have sired offspring during the 5-year study period. The 3 most successful males sired less than 20% of the genotyped offspring. Hence, contrary to prediction from behavior and life-history traits......, reproduction was not heavily skewed compared with many other mammalian systems with a similar breeding system. Nevertheless, these results indicate that trophy hunting and ivory poaching, both of which target older bulls, may have substantial behavioral and genetic effects on elephant populations. In addition...

  1. Advanced paternal age increases the risk of schizophrenia and obsessive-compulsive disorder in a Chinese Han population.

    Wu, Yuejing; Liu, Xiang; Luo, Hongrong; Deng, Wei; Zhao, Gaofeng; Wang, Qiang; Zhang, Lan; Ma, Xiaohong; Liu, Xiehe; Murray, Robin A; Collier, David A; Li, Tao

    2012-08-15

    Using the Structured Clinical Interview for DSM-IV, patient and non-patient version (SCID-P/NP), this study investigated 351 patients with schizophrenia, 122 with obsessive-compulsive disorder (OCD), and 238 unrelated healthy volunteers in a Chinese Han population. The relative risks posed by advanced paternal age for schizophrenia and OCD in offspring were computed under logistic regression analyses and adjusted for the participant's sex, age and co-parent age at birth. Compared to the offspring with paternal age of 25-29 years old, the relative risks rose from 2.660 to 10.183 in the paternal age range of 30-34 and ≥35. The relative risks for OCD increased from 2.225 to 5.413 in 30-34 and ≥35. For offspring with paternal age of maternal age and risk for schizophrenia/OCD was not seen. Interaction analysis showed an interaction effect between paternal age and maternal age at birth. Such a tendency of risk affected by parental age for schizophrenia and OCD existed after splitting out the data of early onset patients. Sex-specific analyses found that the relative risks for schizophrenia with paternal age of 30-34 and ≥35 in male offspring were 2.407 and 10.893, and in female offspring were 3.080 and 9.659. The relative risks for OCD with paternal age of 30-34 and ≥35 in male offspring were 3.493 and 7.373, and in female offspring 2.005 and 4.404. The mean paternal age of schizophrenia/OCD patients born before the early 1980s was much greater than that of patients who were born after then. The findings illustrated that advanced paternal age is associated with increased risk for both schizophrenia and OCD in a Chinese Han population, prominently when paternal age is over 35. Biological and non-biological mechanisms may both be involved in the effects of advanced paternal age on schizophrenia and OCD. Copyright © 2012. Published by Elsevier Ireland Ltd.

  2. Paternal age in relation to offspring intelligence in the West of Scotland Twenty-07 prospective cohort study.

    Elise Whitley

    Full Text Available BACKGROUND: The adverse effects of advancing maternal age on offspring's health and development are well understood. Much less is known about the impact of paternal age. METHODS: We explored paternal age-offspring cognition associations in 772 participants from the West of Scotland Twenty-07 study. Offspring cognitive ability was assessed using Part 1 of the Alice Heim 4 (AH4 test of General Intelligence and by reaction time (RT. RESULTS: There was no evidence of a parental age association with offspring RT. However, we observed an inverse U-shaped association between paternal age and offspring AH4 score with the lowest scores observed for the youngest and oldest fathers. Adjustment for parental education and socioeconomic status somewhat attenuated this association. Adjustment for number of, particularly older, siblings further reduced the scores of children of younger fathers and appeared to account for the lower offspring scores in the oldest paternal age group. CONCLUSION: We observed a paternal age association with AH4 but not RT, a measure of cognition largely independent of social and educational experiences. Factors such as parental education, socioeconomic status and number of, particularly older, siblings may play an important role in accounting for paternal age-AH4 associations. Future studies should include parental intelligence.

  3. Advanced paternal age is a risk factor for schizophrenia in Iranians

    Mokri Bahareh

    2011-04-01

    Full Text Available Abstract Background Since 1958 many, but not all studies have demonstrated that paternal age is a risk factor for schizophrenia. There may be many different explanations for differences between studies, including study design, sample size, collection criteria, heterogeneity and the confounding effects of environmental factors that can for example perturb epigenetic programming and lead to an increase in disease risk. The small number of children in Western families makes risk comparisons between siblings born at different paternal ages difficult. In contrast, more Eastern families have children both at early and later periods of life. In the present study, a cross-sectional population study in an Iranian population was performed to compare frequency of schizophrenia in younger offspring (that is, older paternal age versus older offspring. Methods A total of 220 patients with the diagnosis of schizophrenia (cases from both psychiatric hospitals and private clinics and 220 individuals from other hospital wards (controls, matched for sex and age were recruited for this study. Patients with neurological problem, substance abuse, mental retardation and mood disorder were excluded from both groups. Results Birth rank comparisons revealed that 35% vs 24% of the cases vs the controls were in the third or upper birth rank (P = 0.01. Also, the mean age of fathers at birth in case group (30 ± 6.26 years was significantly more than the control group (26.45 ± 5.64 years; P = 0.0001. The age of 76 fathers at birth in case group was over 32 versus 33 fathers in control group. Individuals whose fathers' age was more than 32 (at birth were at higher risk (2.77 times for schizophrenia versus others (P P = 0.02. Logistic regression analysis suggests that maternal age is less likely to be involved in the higher risk of schizophrenia than advanced parental age. Discussion This study demonstrates a relationship between paternal age and schizophrenia in large

  4. Negative effects of paternal age on children's neurocognitive outcomes can be explained by maternal education and number of siblings.

    Ryan D Edwards

    2010-09-01

    Full Text Available Recent findings suggest advanced paternal age may be associated with impaired child outcomes, in particular, neurocognitive skills. Such patterns are worrisome given relatively universal trends in advanced countries toward delayed nuptiality and fertility. But nature and nurture are both important for child outcomes, and it is important to control for both when drawing inferences about either pathway.We examined cross-sectional patterns in six developmental outcome measures among children in the U.S. Collaborative Perinatal Project (n = 31,346. Many of these outcomes at 8 mo, 4 y, and 7 y of age (Bayley scales, Stanford Binet Intelligence Scale, Graham-Ernhart Block Sort Test, Wechsler Intelligence Scale for Children, Wide Range Achievement Test are negatively correlated with paternal age when important family characteristics such as maternal education and number of siblings are not included as covariates. But controlling for family characteristics in general and mother's education in particular renders the effect of paternal age statistically insignificant for most developmental measures.Assortative mating produces interesting relationships between maternal and paternal characteristics that can inject spurious correlation into observational studies via omitted variable bias. Controlling for both nature and nurture reveals little residual evidence of a link between child neurocognitive outcomes and paternal age in these data. Results suggest that benefits associated with the upward trend in maternal education may offset any negative effects of advancing paternal age.

  5. Autism and increased paternal age related changes in global levels of gene expression regulation.

    Mark D Alter

    2011-02-01

    Full Text Available A causal role of mutations in multiple general transcription factors in neurodevelopmental disorders including autism suggested that alterations in global levels of gene expression regulation might also relate to disease risk in sporadic cases of autism. This premise can be tested by evaluating for changes in the overall distribution of gene expression levels. For instance, in mice, variability in hippocampal-dependent behaviors was associated with variability in the pattern of the overall distribution of gene expression levels, as assessed by variance in the distribution of gene expression levels in the hippocampus. We hypothesized that a similar change in variance might be found in children with autism. Gene expression microarrays covering greater than 47,000 unique RNA transcripts were done on RNA from peripheral blood lymphocytes (PBL of children with autism (n = 82 and controls (n = 64. Variance in the distribution of gene expression levels from each microarray was compared between groups of children. Also tested was whether a risk factor for autism, increased paternal age, was associated with variance. A decrease in the variance in the distribution of gene expression levels in PBL was associated with the diagnosis of autism and a risk factor for autism, increased paternal age. Traditional approaches to microarray analysis of gene expression suggested a possible mechanism for decreased variance in gene expression. Gene expression pathways involved in transcriptional regulation were down-regulated in the blood of children with autism and children of older fathers. Thus, results from global and gene specific approaches to studying microarray data were complimentary and supported the hypothesis that alterations at the global level of gene expression regulation are related to autism and increased paternal age. Global regulation of transcription, thus, represents a possible point of convergence for multiple etiologies of autism and other

  6. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

    Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. (Univ. of Arizona College of Medicine, Tucson, AZ (United States)); Magnuson, L.; Thomas, E.; Herrmann, J. (Great Lakes Genetics, Milwaukee, AZ (United States)); Gendron, R. (Great Lakes Genetics, Kingsport, TN (United States))

    1992-10-01

    Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

  7. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.

    Takama, Yuichi; Kubota, Akio; Nakayama, Masahiro; Higashimoto, Ken; Jozaki, Kosuke; Soejima, Hidenobu

    2014-12-01

    Herein is described a case of breast fibroadenomas in a 16-year-old girl with Beckwith-Wiedemann syndrome (BWS) and uniparental disomy (UPD) of chromosome 11p15.5. She was clinically diagnosed with BWS and direct closure was performed for an omphalocele at birth. Subtotal and 90% pancreatectomy were performed for nesidioblastosis at the ages 2 months and 8 years, respectively. Bilateral multiple breast fibroadenomas were noted at the age of 16 and 17 years. In this case, paternal UPD of chromosome 11p15.5 was identified on microsatellite marker analysis. The relevant imprinted chromosomal region in BWS is 11p15.5, and UPD of chromosome 11p15 is a risk factor for BWS-associated tumorigenicity. Chromosome 11p15.5 consists of imprinting domains of IGF2, the expression of which is associated with the tumorigenesis of various breast cancers. This case suggests that fibroadenomas occurred in association with BWS. © 2014 Japan Pediatric Society.

  8. Facial averageness and genetic quality: Testing heritability, genetic correlation with attractiveness, and the paternal age effect.

    Lee, Anthony J; Mitchem, Dorian G; Wright, Margaret J; Martin, Nicholas G; Keller, Matthew C; Zietsch, Brendan P

    2016-01-01

    Popular theory suggests that facial averageness is preferred in a partner for genetic benefits to offspring. However, whether facial averageness is associated with genetic quality is yet to be established. Here, we computed an objective measure of facial averageness for a large sample ( N = 1,823) of identical and nonidentical twins and their siblings to test two predictions from the theory that facial averageness reflects genetic quality. First, we use biometrical modelling to estimate the heritability of facial averageness, which is necessary if it reflects genetic quality. We also test for a genetic association between facial averageness and facial attractiveness. Second, we assess whether paternal age at conception (a proxy of mutation load) is associated with facial averageness and facial attractiveness. Our findings are mixed with respect to our hypotheses. While we found that facial averageness does have a genetic component, and a significant phenotypic correlation exists between facial averageness and attractiveness, we did not find a genetic correlation between facial averageness and attractiveness (therefore, we cannot say that the genes that affect facial averageness also affect facial attractiveness) and paternal age at conception was not negatively associated with facial averageness. These findings support some of the previously untested assumptions of the 'genetic benefits' account of facial averageness, but cast doubt on others.

  9. Long-Term Consequences for Offspring of Paternal Diabetes and Metabolic Syndrome

    Benigno Linares Segovia

    2012-01-01

    Full Text Available Background. Recent studies have reported an increase in the prevalence of obesity and metabolic syndrome in children and adolescents. However, few have focused how diabetes mellitus and metabolic syndrome together in parents can influence on obesity and metabolic disturbances in offspring. Objective. To know the risk obesity and metabolic disturbance in children, adolescents, and young adults whose parents have diabetes mellitus and metabolic syndrome. Methods. A comparative survey was made in healthy children of parents with diabetes mellitus and metabolic syndrome compared with offspring of healthy parents. We performed anthropometry and evaluated blood pressure, glucose, total cholesterol, HDL cholesterol, and triglycerides levels in plasma. We registered parent antecedents to diabetes mellitus and metabolic syndrome and investigated the prevalence of overweight, obesity, and metabolic disturbances in offspring. Results. We studied 259 subjects of 7 to 20 years of age. The prevalence of overweight and obesity was 27% and 37%, respectively. The highest proportion of BMI >95th of the entire group was found in offspring with both diabetic parents. Glucose and total cholesterol levels were lower in the group with healthy parents compared with the group with diabetic mother and metabolic syndrome but with healthy father. HDL cholesterol was higher in the group with both healthy parents than in the group with diabetic mother and metabolic syndrome but healthy father. Conclusions. The offspring of parents with diabetes plus metabolic syndrome showed higher proportion of variables related to metabolic syndrome compared with healthy parents.

  10. Effects of paternal age and offspring cognitive ability in early adulthood on the risk of schizophrenia and related disorders

    Sørensen, Holger J; Pedersen, Carsten B; Nordentoft, Merete

    2014-01-01

    Advanced paternal age (APA) and intelligence quotient (IQ) are both associated with the risk of schizophrenia spectrum disorder (SSD) in young adult offspring. We hypothesized that the offspring SSD risk gradient associated with paternal age is mediated by offspring IQ. We investigated joint...... the incidence rate ratio (IRR) of SSD. During the follow-up, 528 men developed SSD (incidence rate [IR] 5.2 and 8.6 per 10,000 person-years in the first and second cohorts, respectively). APA was associated with higher risk of SSD (IRR, 1.32; 95% CI, 1.10-1.60 per a ten-year increase in paternal age). A higher...... IQ was associated with lower SSD risk (IRR, 0.68; 95% confidence interval [CI], 0.63-0.74 per one SD increase). The IR of SSD was higher among persons who were draft-exempt for health reasons (APA-related SSD (individuals...

  11. Role of Family Resources and Paternal History of Substance Use Problems in Psychosocial Adjustment among School-Aged Children

    Peleg-Oren, Neta; Rahav, Giora; Teichman, Meir

    2009-01-01

    The present study examines the role of family resources (parenting style and family cohesion) and paternal history of substance abuse on the psychosocial adjustment of their school-aged children. Data were collected from 148 children aged 8-11 (72 of fathers with history of substance use disorder, 76 children of fathers with no substance use…

  12. The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect

    Tiemann-Boege, Irene; Navidi, William; Grewal, Raji; Cohn, Dan; Eskenazi, Brenda; Wyrobek, Andrew J.; Arnheim, Norman

    2002-01-01

    The lifelong spermatogonial stem cell divisions unique to male germ cell production are thought to contribute to a higher mutation frequency in males. The fact that certain de novo human genetic conditions (e.g., achondroplasia) increase in incidence with the age of the father is consistent with this idea. Although it is assumed that the paternal age effect is the result of an increasing frequency of mutant sperm as a man grows older, no direct molecular measurement of the germ-line mutation frequency has been made to confirm this hypothesis. Using sperm DNA from donors of different ages, we determined the frequency of the nucleotide substitution in the fibroblast growth factor receptor 3 (FGFR3) gene that causes achondroplasia. Surprisingly, the magnitude of the increase in mutation frequency with age appears insufficient to explain why older fathers have a greater chance of having a child with this condition. A number of alternatives may explain this discrepancy, including selection for sperm that carry the mutation or an age-dependent increase in premutagenic lesions that remain unrepaired in sperm and are inefficiently detected by the PCR assay. PMID:12397172

  13. Aging and Down Syndrome

    ... to be aw are of the connec tion bet ween Down syndrome and Alzheimer ’s disea se so ... albeing cared for. Make aneffor tto be proactive, thinking ahead to anticipate needs and concerns. x x ...

  14. Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann Syndrome

    Bischoff, F.Z.; McCaskill, C.; Subramanian, S. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Beckwith-Wiedemann Syndrome (BWS) is characterized by numerous growth abnormalities including exomphalos, macroglossia, gigantism, and hemihypertrophy or hemihyperplasia. The {open_quotes}BWS gene{close_quotes} appears to be maternally repressed and is suspected to function as a growth factor or regulator of somatic growth, since activation of this gene through a variety of mechanisms appears to result in somatic overgrowth and tumor development. Mosaic paternal isodisomy of 11p has been observed previously by others in patients with BWS by Southern blot analysis of genomic DNA. The interpretation of these results was primarily based on the intensities of the hybridization signals for the different alleles. In our study, we demonstrate somatic mosaicism directly through PCR and single cell analysis. Peripheral blood was obtained from a patient with BWS and initial genomic DNA analysis by PCR was suggestive of somatic mosaicism for paternal isodisomy of 11p. Through micromanipulation, single cells were isolated and subjected to primer extention preamplification. Locus-specific microsatellite marker analyses by PCR were performed to determine the chromosome 11 origins in the preamplified individual cells. Two populations of cells were detected, a population of cells with normal biparental inheritance and a population of cells with paternal isodisomy of 11p and biparental disomy of 11q. Using the powerful approach of single cell analysis, the detected somatic mosaicism provides evidence for a mitotic recombinational event that has resulted in loss of the maternal 11p region and gain of a second copy of paternal 11p in some cells. The direct demonstration of mosaicism may explain the variable phenotypes and hemihypertrophy often observed in BWS.

  15. Paternal Aging Affects Behavior in Pax6 Mutant Mice: A Gene/Environment Interaction in Understanding Neurodevelopmental Disorders.

    Yoshizaki, Kaichi; Furuse, Tamio; Kimura, Ryuichi; Tucci, Valter; Kaneda, Hideki; Wakana, Shigeharu; Osumi, Noriko

    2016-01-01

    Neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD) have increased over the last few decades. These neurodevelopmental disorders are characterized by a complex etiology, which involves multiple genes and gene-environmental interactions. Various genes that control specific properties of neural development exert pivotal roles in the occurrence and severity of phenotypes associated with neurodevelopmental disorders. Moreover, paternal aging has been reported as one of the factors that contribute to the risk of ASD and ADHD. Here we report, for the first time, that paternal aging has profound effects on the onset of behavioral abnormalities in mice carrying a mutation of Pax6, a gene with neurodevelopmental regulatory functions. We adopted an in vitro fertilization approach to restrict the influence of additional factors. Comprehensive behavioral analyses were performed in Sey/+ mice (i.e., Pax6 mutant heterozygotes) born from in vitro fertilization of sperm taken from young or aged Sey/+ fathers. No body weight changes were found in the four groups, i.e., Sey/+ and wild type (WT) mice born to young or aged father. However, we found important differences in maternal separation-induced ultrasonic vocalizations of Sey/+ mice born from young father and in the level of hyperactivity of Sey/+ mice born from aged fathers in the open-field test, respectively, compared to WT littermates. Phenotypes of anxiety were observed in both genotypes born from aged fathers compared with those born from young fathers. No significant difference was found in social behavior and sensorimotor gating among the four groups. These results indicate that mice with a single genetic risk factor can develop different phenotypes depending on the paternal age. Our study advocates for serious considerations on the role of paternal aging in breeding strategies for animal studies.

  16. Paternal Aging Affects Behavior in Pax6 Mutant Mice: A Gene/Environment Interaction in Understanding Neurodevelopmental Disorders.

    Kaichi Yoshizaki

    Full Text Available Neurodevelopmental disorders such as autism spectrum disorder (ASD and attention deficit and hyperactivity disorder (ADHD have increased over the last few decades. These neurodevelopmental disorders are characterized by a complex etiology, which involves multiple genes and gene-environmental interactions. Various genes that control specific properties of neural development exert pivotal roles in the occurrence and severity of phenotypes associated with neurodevelopmental disorders. Moreover, paternal aging has been reported as one of the factors that contribute to the risk of ASD and ADHD. Here we report, for the first time, that paternal aging has profound effects on the onset of behavioral abnormalities in mice carrying a mutation of Pax6, a gene with neurodevelopmental regulatory functions. We adopted an in vitro fertilization approach to restrict the influence of additional factors. Comprehensive behavioral analyses were performed in Sey/+ mice (i.e., Pax6 mutant heterozygotes born from in vitro fertilization of sperm taken from young or aged Sey/+ fathers. No body weight changes were found in the four groups, i.e., Sey/+ and wild type (WT mice born to young or aged father. However, we found important differences in maternal separation-induced ultrasonic vocalizations of Sey/+ mice born from young father and in the level of hyperactivity of Sey/+ mice born from aged fathers in the open-field test, respectively, compared to WT littermates. Phenotypes of anxiety were observed in both genotypes born from aged fathers compared with those born from young fathers. No significant difference was found in social behavior and sensorimotor gating among the four groups. These results indicate that mice with a single genetic risk factor can develop different phenotypes depending on the paternal age. Our study advocates for serious considerations on the role of paternal aging in breeding strategies for animal studies.

  17. Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature.

    Dietze, Ilona; Fritz, Barbara; Huhle, Dagmar; Simoens, Wouter; Piecha, Ernestine; Rehder, Helga

    2004-01-01

    Wolf-Hirschhorn (4p-) syndrome (WHS), caused by partial deletion of the short arm of chromosome 4, has been extensively described in children and young adults. Knowledge on fetuses with WHS is still limited due to the small number of published cases. We report on a fetus with prenatally diagnosed severe intrauterine growth retardation, reduced thoracal diameter, clubfeet deformity and midface hypoplasia including slight microretrognathia indicative for fetal karyotyping. Chromosome analysis after amniocentesis revealed a de novo terminal deletion of chromosome 4p [karyotype: 46,XX,del(4) (p16)] which was confirmed by FISH. Analyses of a set of polymorphic markers mapping in 4pter->4p15.3 showed absence of paternal haplotypes. These observations corroborate the preferential paternal origin of the de novo 4p deletion in WHS patients. Furthermore, the distal breakpoint could be narrowed to band 4p16.1. At autopsy, the fetus showed typical craniofacial dysmorphic signs of WHS, severe IUGR and delayed bone age. This report suggests the possibility of recognising the particular phenotype of WHS in utero by prenatal ultrasound and emphasises the importance of karyotyping fetuses with severe IUGR, especially when the amount of amniotic fluid is normal. Copyright 2004 S. Karger AG, Basel

  18. Transgenerational Inheritance of Paternal Neurobehavioral Phenotypes: Stress, Addiction, Ageing and Metabolism.

    Yuan, Ti-Fei; Li, Ang; Sun, Xin; Ouyang, Huan; Campos, Carlos; Rocha, Nuno B F; Arias-Carrión, Oscar; Machado, Sergio; Hou, Gonglin; So, Kwok Fai

    2016-11-01

    Epigenetic modulation is found to get involved in multiple neurobehavioral processes. It is believed that different types of environmental stimuli could alter the epigenome of the whole brain or related neural circuits, subsequently contributing to the long-lasting neural plasticity of certain behavioral phenotypes. While the maternal influence on the health of offsprings has been long recognized, recent findings highlight an alternative way for neurobehavioral phenotypes to be passed on to the next generation, i.e., through the male germ line. In this review, we focus specifically on the transgenerational modulation induced by environmental stress, drugs of abuse, and other physical or mental changes (e.g., ageing, metabolism, fear) in fathers, and recapitulate the underlying mechanisms potentially mediating the alterations in epigenome or gene expression of offsprings. Together, these findings suggest that the inheritance of phenotypic traits through male germ-line epigenome may represent the unique manner of adaptation during evolution. Hence, more attention should be paid to the paternal health, given its equivalently important role in affecting neurobehaviors of descendants.

  19. Effects of paternal phenotype and environmental variability on age and size at maturity in a male dimorphic mite

    Smallegange, Isabel M.

    2011-04-01

    Investigating how the environment affects age and size at maturity of individuals is crucial to understanding how changes in the environment affect population dynamics through the biology of a species. Paternal phenotype, maternal, and offspring environment may crucially influence these traits, but to my knowledge, their combined effects have not yet been tested. Here, I found that in bulb mites ( Rhizoglyphus robini), maternal nutrition, offspring nutrition, and paternal phenotype (males are fighters, able to kill other mites, or benign scramblers) interactively affected offspring age and size at maturity. The largest effect occurred when both maternal and offspring nutrition was poor: in that case offspring from fighter sires required a significantly longer development time than offspring from scrambler sires. Investigating parental effects on the relationship between age and size at maturity revealed no paternal effects, and only for females was its shape influenced by maternal nutrition. Overall, this reaction norm was nonlinear. These non-genetic intergenerational effects may play a complex, yet unexplored role in influencing population fluctuations—possibly explaining why results from field studies often do not match theoretical predictions on maternal effects on population dynamics.

  20. New evidence for positive selection helps explain the paternal age effect observed in achondroplasia

    Shinde, Deepali N.; Elmer, Dominik P.; Calabrese, Peter; Boulanger, Jérôme; Arnheim, Norman; Tiemann-Boege, Irene

    2013-01-01

    There are certain de novo germline mutations associated with genetic disorders whose mutation rates per generation are orders of magnitude higher than the genome average. Moreover, these mutations occur exclusively in the male germ line and older men have a higher probability of having an affected child than younger ones, known as the paternal age effect (PAE). The classic example of a genetic disorder exhibiting a PAE is achondroplasia, caused predominantly by a single-nucleotide substitution (c.1138G>A) in FGFR3. To elucidate what mechanisms might be driving the high frequency of this mutation in the male germline, we examined the spatial distribution of the c.1138G>A substitution in a testis from an 80-year-old unaffected man. Using a technology based on bead-emulsion amplification, we were able to measure mutation frequencies in 192 individual pieces of the dissected testis with a false-positive rate lower than 2.7 × 10−6. We observed that most mutations are clustered in a few pieces with 95% of all mutations occurring in 27% of the total testis. Using computational simulations, we rejected the model proposing an elevated mutation rate per cell division at this nucleotide site. Instead, we determined that the observed mutation distribution fits a germline selection model, where mutant spermatogonial stem cells have a proliferative advantage over unmutated cells. Combined with data on several other PAE mutations, our results support the idea that the PAE, associated with a number of Mendelian disorders, may be explained primarily by a selective mechanism. PMID:23740942

  1. Maternal and paternal age at delivery, birth order, and risk of childhood onset type 1 diabetes: population based cohort study

    Stene, Lars C; Magnus, Per; Lie, Rolv T; Søvik, Oddmund; Joner, Geir

    2001-01-01

    Objective To estimate the associations of maternal and paternal age at delivery and of birth order with the risk of childhood onset type 1 diabetes. Design Cohort study by record linkage of the medical birth registry and the national childhood diabetes registry in Norway. Setting Norway. Subjects All live births in Norway between 1974 and 1998 (1.4 million people) were followed for a maximum of 15 years, contributing 8.2 million person years of observation during 1989-98. 1824 cases of type 1 diabetes diagnosed between 1989 and 1998 were identified. Main outcome measures Incidence of type 1 diabetes. Results There was no association between maternal age at delivery and type 1 diabetes among firstborn children, but among fourthborn children there was a 43.2% increase in incidence of diabetes for each five year increase in maternal age (95% confidence interval 6.4% to 92.6%). Each increase in birth order was associated with a 17.9% reduction in incidence (3.2% to 30.4%) when maternal age was 20-24 years, but the association was weaker when maternal age was 30 years or more. Paternal age was not associated with type 1 diabetes after maternal age was adjusted for. Conclusions Intrauterine factors and early life environment may influence the risk of type 1 diabetes. The relation of maternal age and birth order to risk of type 1 diabetes is complex. What is already known on this topicMaternal age at birth is positively associated with risk of childhood onset type 1 diabetesStudies of the effect of birth order on risk of type 1 diabetes have given inconsistent resultsWhat does this study add?In a national cohort, risk of diabetes in firstborn children was not associated with maternal ageIncreasing maternal age was a risk factor in children born second or laterThe strength of the association increased with increasing birth order PMID:11509426

  2. Early birds are sexy: male age, dawn song and extrapair paternity in blue tits, Cyanistes (formerly Parus) caeruleus

    Poesel, Angelika; Kunc, H.P.; Foerster, K.

    2006-01-01

    Sexual selection theory predicts that signals reflecting the relative quality of individuals should be used in mate choice. Females could base their choice of copulation partners on male secondary sexual traits that honestly signal male age, as predicted by the age-based indicator mechanism....... Studies have shown that female blue tits prefer older males and that aspects of dawn song reflect male quality, but it remains unknown whether dawn song characteristics correlate with male age. We compared dawn song characteristics of second-year (SY) and older (ASY) male blue tits (cross......-sectional analysis), and tested for age-related changes within individuals (longitudinal analysis) and differential overwinter survival of SY males. We further investigated the relation between dawn song and paternity gain and loss. We found that ASY male blue tits began to sing earlier relative to sunrise than did...

  3. Paternal age at birth and the risk of obesity in young adulthood: a register-based birth cohort study of Norwegian males.

    Eriksen, Willy; Sundet, Jon M; Tambs, Kristian

    2013-01-01

    The aim of this study was to determine the relationship between paternal age at birth and the risk of obesity in young adulthood. Data from the medical birth register of Norway were linked with register data from the Norwegian National Conscript Service and the national statistics agency, Statistics Norway. This study used the data on 346,609 registered males who were born at term in single birth without physical anomalies during 1967-1984 and who were examined at the time of the mandatory military conscription (age 18-20 years). The relationship between paternal age at birth and the occurrence of obesity (body mass index (BMI) ≥ 30.0 kg/m(2) ) at conscription was examined using a multinomial logistic regression analysis with BMI birth but did not increase (P = 0.52) with maternal age at birth. Men born when their fathers were 50 years or older had a 55% (95% confidence interval (CI): 14%, 110%) higher relative risk of obesity than men born when their fathers were younger than 20 years of age, after adjustment for age at conscription, birth order, birth year, maternal age at birth, the mother's total number of children, and maternal and paternal education levels. The risk of obesity in young Norwegian men increases with advancing paternal age at birth but does not increase with advancing maternal age at birth. Copyright © 2012 Wiley Periodicals, Inc.

  4. Comparison of associations of maternal peri-pregnancy and paternal anthropometrics with child anthropometrics from birth through age 7 y assessed in the Danish National Birth Cohort

    Sorensen, Thorkild I. A.; Ajslev, Teresa Adeltoft; Angquist, Lars

    2016-01-01

    body mass index (BMI) with child anthropometric measurements from birth through infancy and at 7 y of age exceed those of paternal associations. Design: In the Danish National Birth Cohort, information on parental and child anthropometric measures is available for 30,655 trio families from maternal...

  5. De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.

    Goel, Ajay; Nguyen, Thuy-Phuong; Leung, Hon-Chiu E; Nagasaka, Takeshi; Rhees, Jennifer; Hotchkiss, Erin; Arnold, Mildred; Banerji, Pia; Koi, Minoru; Kwok, Chau-To; Packham, Deborah; Lipton, Lara; Boland, C Richard; Ward, Robyn L; Hitchins, Megan P

    2011-02-15

    Lynch syndrome is an autosomal dominant cancer predisposition syndrome classically caused by germline mutations of the mismatch repair genes, MLH1, MSH2, MSH6 and PMS2. Constitutional epimutations of the MLH1 gene, characterized by soma-wide methylation of a single allele of the promoter and allelic transcriptional silencing, have been identified in a subset of Lynch syndrome cases lacking a sequence mutation in MLH1. We report two individuals with no family history of colorectal cancer who developed that disease at age 18 and 20 years. In both cases, cancer had arisen because of the de novo occurrence of a constitutional MLH1 epimutation and somatic loss-of-heterozygosity of the functional allele in the tumors. We show for the first time that the epimutation in one case arose on the paternally inherited allele. Analysis of 13 tumors from seven individuals with constitutional MLH1 epimutations showed eight tumors had lost the second MLH1 allele, two tumors had a novel pathogenic missense mutation and three had retained heterozygosity. Only 1 of 12 tumors demonstrated the BRAF V600E mutation and 3 of 11 tumors harbored a mutation in KRAS. The finding that epimutations can originate on the paternal allele provides important new insights into the mechanism of origin of epimutations. It is clear that the second hit in MLH1 epimutation-associated tumors typically has a genetic not epigenetic basis. Individuals with mismatch repair-deficient cancers without the BRAF V600E mutation are candidates for germline screening for sequence or methylation changes in MLH1. Copyright © 2010 UICC.

  6. The age-related patterns of preterm birth among urban African-American and non-Latina White mothers: The effect of paternal involvement.

    Hibbs, Shayna D; Rankin, Kristin M; DeSisto, Carla; Collins, James W

    2018-05-30

    Few studies have examined contributions of paternal factors to birth outcomes. Weathering is a pattern of increasing rates of adverse birth outcome with increasing maternal age. This study evaluates for an association between paternal involvement and weathering in the context of preterm birth (PTB, poverty. Using the Illinois transgenerational dataset with appended US census income information of infants (1989-1991) and their mothers (1956-1976), we compared infants of women by degree of paternal involvement: married, unmarried with father named on birth certificate, and unnamed father. Data were stratified by maternal residence in higher or lower income neighborhoods at both the time of mothers' birth and infants' birth, estimating maternal lifelong economic context. We computed race-specific PTB rates according to maternal age, lifelong neighborhood income, and paternal involvement. We calculated Mantel-Haenszel chi-square tests of linear trend from contingency tables to evaluate weathering. Among African-Americans (n = 39,991) with unnamed fathers and lifelong residence in lower income neighborhoods, PTB rate was lowest among teens at 18.8%, compared to 21.5% for 30-35 year-old mothers (p for linear trend rate among teens was 16%, compared to 25% for 30-35 year-old mothers (p = 0.21). Among married African-Americans with lifelong residence in lower income neighborhoods, PTB rate among teens was 16.4%, compared to 12.5% for 30-35 year-old mothers (p = 0.79). Among married African-Americans with lifelong residence in higher income neighborhoods, PTB rate among teens was 20%, compared to 11.4% for 30-35 year-old mothers (p = 0.40). White mothers (n = 31,981) did not demonstrate weathering, regardless of paternal involvement and neighborhood poverty. We conclude that weathering was not seen among married African-Americans, independent of neighborhood income, suggesting a potentially protective mechanism associated with paternal involvement

  7. Decrease in the CGG{sub n} trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission

    Vaeisaenen, M.L.; Haataja, R.; Leisti, J. [Oulu Univ. Hospital (Finland)

    1996-09-01

    The fragile X syndrome, the most common inherited form of mental retardation, is caused by the expansion of a CGG{sub n} trinucleotide repeat in the FMR-1 gene. Although the repeat number usually increases during transmission, few cases with reduction of an expanded CGG{sub n} repeat back to the normal size range have been reported. We describe for the first time a family in which such reduction has occurred in the paternal transmission. The paternal premutation ({Delta} = 300 hp) was not detected in one of the five daughters or in the son of this daughter, although he had the grandpaternal RFLP haplotype. Instead, fragments indicating the normal CGG{sub n} repeat size were seen on a Southern blot probed with StB12.3. PCR analysis of the CGG{sub n} repeat confirmed this; in addition to a maternal allele of 30 repeats, an allele of 34 repeats was detected in the daughter and, further, in her son. Sequencing of this new allele revealed a pure CGG{sub n} repeat configuration without AGG interruptions. No evidence for a somatic mosaicism of a premutation allele in the daughter or a normal allele in her father was detected when investigating DNA derived from blood lymphocytes and skin fibroblasts. Another unusual finding in this family was lack of the PCR product of the microsatellite marker RS46 (DXS548) in one of the grandmaternal X chromosomes, detected as incompatible inheritance of RS46 alleles. The results suggest an intergenerational reduction in the CGG{sub n} repeat from premutation size to the normal size range and stable transmission of the contracted repeat to the next generation. However, paternal germ-line mosaicism could not be excluded as an alternative explanation for the reverse mutation. 37 refs., 4 figs.

  8. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

    Carlos A. Venegas-Vega

    2013-01-01

    Full Text Available The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH and single-nucleotide polymorphism (SNP microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb. Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling.

  9. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

    Venegas-Vega, Carlos A.; Zepeda, Luis M.; Garduño-Zarazúa, Luz M.; Berumen, Jaime; Kofman, Susana; Cervantes, Alicia

    2013-01-01

    The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS) phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV) analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb). Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling. PMID:23484094

  10. Aging in Rare Intellectual Disability Syndromes

    Dykens, Elisabeth M.

    2013-01-01

    This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults…

  11. Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans.

    Savage, A R; Petersen, M B; Pettay, D; Taft, L; Allran, K; Freeman, S B; Karadima, G; Avramopoulos, D; Torfs, C; Mikkelsen, M; Hassold, T J; Sherman, S L

    1998-08-01

    Paternal non-disjunction of chromosome 21 accounts for 5-10% of Down syndrome cases, therefore, relative to the maternally derived cases, little is known about paternally derived trisomy 21. We present the first analysis of recombination and non-disjunction for a large paternally derived population of free trisomy 21 conceptuses ( n = 67). Unlike maternal cases where the ratio of meiosis I (MI) to meiosis II (MII) errors is 3:1, a near 1:1 ratio exists among paternal cases, with a slight excess of MII errors. We found no paternal age effect for the overall population nor when classifying cases according to stage of non-disjunction error. Among 22 MI cases, only five had an observable recombinant event. This differs significantly from the 11 expected events ( P < 0.02, Fisher's exact), suggesting reduced recombination along the non-disjoined chromosomes 21 involved in paternal MI non-disjunction. No difference in recombination was detected among 27 paternal MII cases as compared with controls. However, cases exhibited a slight increase in the frequency of proximal and medial exchange when compared with controls (0.37 versus 0.28, respectively). Lastly, this study confirmed previous reports of excess male probands among paternally derived trisomy 21 cases. However, we report evidence suggesting an MII stage-specific sex ratio disturbance where 2.5 male probands were found for each female proband. Classification of MII cases based on the position of the exchange event suggested that the proband sex ratio disturbance was restricted to non-telomeric exchange cases. Based on these findings, we propose new models to explain the association between paternally derived trisomy 21 and excessive male probands.

  12. Who wants paternalism?

    Pedersen, Sofie K.; Koch, Alexander Karl; Nafziger, Julia

    2014-01-01

    Little is known about the demand side of paternalism. We investigate attitudes towards paternalism among Danish students. The main question is whether demand for paternalism is related to self-control, either because people with self-control problems seek commitment devices to overcome these prob...

  13. Paternal smoking and spontaneous abortion: a population-based retrospective cohort study among non-smoking women aged 20-49 years in rural China.

    Wang, Long; Yang, Ying; Liu, Fangchao; Yang, Aimin; Xu, Qin; Wang, Qiaomei; Shen, Haiping; Zhang, Yiping; Yan, Donghai; Peng, Zuoqi; He, Yuan; Wang, Yuanyuan; Xu, Jihong; Zhao, Jun; Zhang, Hongguang; Zhang, Ya; Dai, Qiaoyun; Ma, Xu

    2018-06-11

    To comprehensively evaluate the association of paternal smoking and spontaneous abortion. We conducted a population-based retrospective cohort study among 5 770 691 non-smoking rural Chinese women, along with their husbands, participating in the National Free Pre-Pregnancy Checkups Project, regarding outcome events that occurred in 2010-2016. The main outcome was spontaneous abortion (SA). Multivariable logistic regression was used to estimate OR and 95% CI, and restricted cubic spline was used to estimate the non-linear relationship. The multivariable-adjusted OR of exposure to paternal smoking for SA was 1.17 (95% CI 1.16 to 1.19), compared with women without exposure to paternal smoking; and corresponding OR of exposure to preconception paternal smoking for SA was 1.11 (95% CI 1.08 to 1.14), compared with women without exposure to preconception paternal smoking. The ORs of preconception paternal smoking also increased with increases in paternal smoking (p nonlinear 0.05). In addition, periconception paternal smoking cessation was associated with an 18% (15%-22%) lower risk of SA. Paternal smoking was associated with SA. The importance of tobacco control, specifically pertaining to paternal smoking, should be emphasised during preconception and pregnancy counselling. © 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.

  14. Age of First Arrhythmic Event in Brugada Syndrome

    Milman, Anat; Andorin, Antoine; Gourraud, Jean-Baptiste

    2017-01-01

    BACKGROUND: Data on the age at first arrhythmic event (AE) in Brugada syndrome are from limited patient cohorts. The aim of this study is 2-fold: (1) to define the age at first AE in a large cohort of patients with Brugada syndrome, and (2) to assess the influence of the mode of AE documentation,...

  15. A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat].

    Krajewska-Walasek, M; Gutkowska, A; Mospinek-Krasnopolska, M; Chrzanowska, K

    1996-01-01

    We present a new case of 11p15 duplication (trisomy 11p15) in a boy (46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)] suffering from Beckwith-Wiedemann syndrome (BWS), whose phenotypically normal father carries a balanced translocation between chromosomes 11 and 21[46,XY, t(11;21)(p15.2;q22.3)]. The paternal grandmother has the same balanced translocation and is also clinically normal. BWS was suspected when the boy was 6 months old because of gigantism, macroglossia, visceromegaly, ear lobe creases and abdominal distention. Apart from the characteristic BWS phenotype, the boy has other features which are almost exclusively observed in 11p trisomy (high forehead with frontal upsweep of hair, wide central nose bridge, slightly beaked nose, chubby cheeks and severe mental retardation). So far, at least eight cases of 11p15 duplication have been described as patients with BWS. In six of these, the duplication was due to inheritance of a translocated or rearranged paternal chromosome. This was also the case in our patient. In the two other previously published cases, the 11p15 duplications were de novo, but in one of these, DNA analysis has subsequently shown that the duplication was of paternal origin. We discuss our observations in relation to the above-mentioned previous cases of 11p15 duplication and the possible role of genomic imprinting in the etiology of BWS.

  16. The effect of paternal factors on perinatal and paediatric outcomes

    Oldereid, Nan B; Wennerholm, Ulla-Britt; Pinborg, Anja

    2018-01-01

    BACKGROUND: Maternal factors, including increasing childbearing age and various life-style factors, are associated with poorer short- and long-term outcomes for children, whereas knowledge of paternal parameters is limited. Recently, increasing paternal age has been associated with adverse obstet...... IMPLICATIONS: Although the increased risks of adverse outcome in offspring associated with paternal factors and identified in this report represent serious health effects, the magnitude of these effects seems modest....

  17. Avaliação da idade materna, paterna, ordem de paridade e intervalo interpartal para fissura lábio-palatina Maternal and paternal age, birth order and interpregnancy interval evaluation for cleft lip-palate

    Daniella Reis Barbosa Martelli

    2010-02-01

    Full Text Available Fissuras do lábio e/ou palato representam as anomalias congênitas craniofaciais mais comuns. OBJETIVO: Avaliar fatores de risco ambientais em pacientes com fissuras lábio-palatinas não-sindrômicas, em um Serviço de Minas Gerais. CASUÍSTICA E MÉTODO: Realizou-se estudo caso-controle, avaliando 100 crianças com fissuras e 100 crianças sem alterações clínicas. As dimensões de análise (idade, cor de pele, sexo, classificação das fissuras, idade materna e paterna, ordem de paridade e intervalo interpartal foram obtidas a partir de um questionário, sendo posteriormente construído banco de dados e as análises realizadas pelo programa SPSS 17.0. Os resultados foram analisados com risco relativo para cada variável, para estimar odds ratios com intervalo de confiança de 95% seguido de análise bivariada e multivariada. RESULTADOS: Entre as 200 crianças, 54% foram do sexo masculino e 46% do feminino. Com relação à cor da pele, houve predomínio de parda, branca e preta, respectivamente. Entre os tipos de fissuras, as mais comuns foram as fissuras lábio-palatinas (54%, seguidas pela fissura labial (30% e fissura palatina (16%. CONCLUSÃO: Embora com uma população limitada, verificou-se associação entre idade materna e risco aumentado para fissuras lábio-palatinas, porém idade paterna, ordem de paridade e intervalo interpartal não foram significantes.Cleft lip and palate (CL/P are the most common congenital craniofacial anomalies. AIM: To evaluate environmental risk factors for non-syndromic CL/P in a reference care center in Minas Gerais. MATERIALS AND METHODS: we carried out a case-controlled study, assessing 100 children with clefts and 100 children without clinical alterations. The analysis dimensions (age, skin color, gender, fissure classification, maternal and paternal age, birth order and interpregnancy interval, obtained from a questionnaire; and later we build a data base and the analyses were carried out by the

  18. Paternalism and Antipaternalism

    Mauro Cardoso Simões

    2011-12-01

    Full Text Available http://dx.doi.org/10.5007/1677-2954.2011v10n1p165 This paper aims to examine the relation between paternalism and antipaternalism. The original intention is disable the arguments seeking to justify acceptance on the part of Mill of moral and legal paternalism. The work will also investigate the concern milleans with the concepts of autonomy and self-development, positioning itself for a reading of Mill as a thinker who advocates a weak version of paternalism. This research suggests, moreover, the communication with the interpreters of contemporary Mill, which will assess the impact of their ideas on the current dialogue on the liberty and paternalism.

  19. Sex allocation in a species with paternal genome elimination : The roles of crowding and female age in the mealybug Planococcus citri

    Ross, Laura; Langenhof, Minke B. W.; Pen, Ido; Beukeboom, Leo W.; West, Stuart A.; Shuker, David M.

    Background: In species with paternal genome elimination, both sexes are diploid. However, in males the chromosomes inherited from the father are deactivated during early development and eliminated from the germ line. Sex allocation theory predicts that, all else being equal, females should bias

  20. Parental-age effects in Down syndrome

    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Introduction .... currence risk for younger women, by the age of 40, the re- currence risk is not ..... Published on the Web: 30 March 2009. Journal of Genetics ...

  1. Prevalence, incidence, and age at diagnosis in Marfan Syndrome

    Groth, Kristian A; Hove, Hanne; Kyhl, Kasper

    2015-01-01

    Background: Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria...... have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, and age at diagnosis in patients with Marfan syndrome. Method: Using unique Danish patient-registries, we identified all possible Marfan syndrome patients recorded by the Danish healthcare system (1977......-2014). Following, we confirmed or rejected the diagnosis according to the 2010 revised Ghent nosology. Results: We identified a total of 1628 persons with possible Marfan syndrome. We confirmed the diagnosis in 412, whereof 46 were deceased, yielding a maximum prevalence of 6.5/100,000 at the end of 2014...

  2. Who wants paternalism?

    Pedersen, Sofie Kragh; Koch, Alexander Karl; Nafziger, Julia

    these problems, or because people with good self-control want those who lack it to change their behaviors. We find no evidence linking self-control to attitudes towards weak forms of paternalism (e.g. nudges or information about health consequences). But respondents with good selfcontrol are significantly more...

  3. Fragile X Syndrome: An Aging Perspective

    Schneider, Andrea; Ligsay, Andrew; Hagerman, Randi J.

    2013-01-01

    Cognitive and behavioral correlates of molecular variations related to the FMR1 gene have been studied rather extensively, but research about the long-term outcome in individuals with fragile X spectrum disorders remains sparse. In this review, we present an overview of aging research and recent findings in regard to cellular and clinical…

  4. Paternal isodisomy of chromosome 6 in association with a maternal supernumerary marker chromosome (6)

    James, R.S.; Crolla, J.A.; Sitch, F.L. [Salisbury District Hospital, Wiltshire (United Kingdom)] [and others

    1994-09-01

    Uniparental disomy may arise by a number of different mechanisms of aneuploidy correction. A population that has been identified as being at increased risk of aneuploidy are those individuals bearing supernumerary marker chromosomes (SMCs). There have been a number of cases reported of trisomy 21 in association with bi-satellited marker chromosomes have described two individuals with small inv dup (15) markers. One had paternal isodisomy of chromosome 15 and Angelman syndrome. The other had maternal heterodisomy (15) and Prader-Willi syndrome. At the Wessex Regional Genetics Laboratory we have conducted a search for uniparental disomy of the normal homologues of the chromosomes from which SMCs originated. Our study population consists of 39 probands with SMCs originating from a number of different autosomes, including 17 with SMCs of chromosome 15 origin. Using PCR amplification of microsatellite repeat sequences located distal to the regions included in the SMCs we have determined the parental origin of the two normal homologues in each case. We have identified paternal isodisomy of chromosome 6 in a female child with a supernumerary marker ring chromosome 6 in approximately 70% of peripheral blood lymphocytes. The marker was found to be of maternal origin. This is the second case of paternal isodisomy of chromosome 6 to be reported, and the first in association with a SMC resulting in a partial trisomy for a portion of the short arm of chromosome 6. In spite of this, the patient appears to be functioning appropriately for her age.

  5. The phenotype of polycystic ovary syndrome ameliorates with aging

    Brown, Zoe A.; Louwers, Yvonne V.; Fong, Sharon Lie; Valkenburg, Olivier; Birnie, Erwin; de Jong, Frank H.; Fauser, Bart C. J. M.; Laven, Joop S. E.

    2011-01-01

    Objective: To assess the effects of aging on the features of polycystic ovary syndrome (PCOS). Design: Retrospective longitudinal follow-up study. Setting: Tertiary care center. Patient(s): Patients with PCOS, diagnosed according to the 2003 Rotterdam criteria, who visited the outpatient clinic on

  6. Chronic Glucocorticoid Hypersecretion in Cushing's Syndrome Exacerbates Cognitive Aging

    Michaud, Kathy; Forget, Helene; Cohen, Henri

    2009-01-01

    Cumulative exposure to glucocorticoid hormones (GC) over the lifespan has been associated with cognitive impairment and may contribute to physical and cognitive degeneration in aging. The objective of the present study was to examine whether the pattern of cognitive deficits in patients with Cushing's syndrome (CS), a disorder characterized by…

  7. Prevalence, incidence, and age at diagnosis in Marfan Syndrome.

    Groth, Kristian A; Hove, Hanne; Kyhl, Kasper; Folkestad, Lars; Gaustadnes, Mette; Vejlstrup, Niels; Stochholm, Kirstine; Østergaard, John R; Andersen, Niels H; Gravholt, Claus H

    2015-12-02

    Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, and age at diagnosis in patients with Marfan syndrome. Using unique Danish patient-registries, we identified all possible Marfan syndrome patients recorded by the Danish healthcare system (1977-2014). Following, we confirmed or rejected the diagnosis according to the 2010 revised Ghent nosology. We identified a total of 1628 persons with possible Marfan syndrome. We confirmed the diagnosis in 412, whereof 46 were deceased, yielding a maximum prevalence of 6.5/100,000 at the end of 2014. The annual median incidence was 0.19/100,000 (range: 0.0-0.7) which increased significantly with an incidence rate ratio of 1.03 (95% CI: 1.02-1.04, p Marfan syndrome during the study period is possibly due to build-up of a registry. Since early diagnosis is essential in preventing aortic events, diagnosing Marfan syndrome remains a task for both pediatricians and physicians caring for adults.

  8. Immotile cilia syndrome in an aged dog

    Killingsworth, C.R.; Slocombe, R.F.; Wilsman, N.J.

    1987-01-01

    An 11-year-old Dalmatian was examined and treated for bilateral nasal discharge and cough of 6 months' duration. Response to medical treatment and surgical intervention was unsatisfactory. Histologic examination of lung tissue revealed chronic severe catarrhal bronchitis and bronchiolitis with bronchiectasis. Histologic findings and barium sulfate bronchography indicated abnormal mucociliary clearance in the respiratory tract. Electron microscopy revealed abnormalities or deletions of outer and/or inner dynein arms in 26% of the ciliary profiles from the affected dog. Similar abnormalities were not found in 500 ciliary profiles from age- and gender-matched control dogs

  9. Down Syndrome and the aging process: a systematic review

    Bruno Sousa Lopes

    2015-05-01

    Full Text Available The study aimed to identify and update the knowledge about older people with Down Syndrome (DS, and to understand the peculiarities of the aging process in this population. Bibliographical research conducted by Portal de Periódicos da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior and High Wire portal. Inclusion criteria were articles published in the last ten years with the words “Down Syndrome" and “Elderly”.  

  10. Aging and Immunopathology in Primary Sjögren's Syndrome.

    Bouma, Hjalmar R; Bootsma, Hendrika; van Nimwegen, Jolien F; Haacke, Erlin A; Spijkervet, Fred K; Vissink, Arjan; Kroese, Frans G M

    2015-01-01

    Sicca complaints (sensation of dry mouth and/or eyes) are present in about a quarter of the individuals above the age of 65 years old and are mainly due to medication. However, physiological changes that occur during aging might also lead to a diminished glandular function. These age-related changes are, at least in part, to be the consequence of decreased androgen levels. In addition to these physiological effects that occur during normal aging, sicca complaints can also be caused by Sjögren's syndrome (SS): a systemic auto-inflammatory disorder mainly affecting exocrine glands. Genetic factors, lowered levels of gonadal hormones and (viral) infections appear to contribute to the etiology of the syndrome. The incidence of SS is higher among aged individuals, which might be due to earlier diagnosis, as the onset of SS in an individual with age-related exocrine gland dysfunction lowers the threshold for sicca complaints. On the other hand, physiological aging might be considered as a risk factor for development of SS, resulting in a faster development of the syndrome. Differentiating physiological sicca complaints from SS in the elderly can be challenging, since apparently healthy individuals might present with auto-antibodies and lymphocytic infiltrates in salivary glands might be present as well. The drop in the level of androgens and estrogens upon aging, immunosenescence and pro-inflammatory features of the aging immune system may all contribute to the etiology of pSS in the elderly. In this review, we describe the physiological effects of aging and the influence of SS on exocrine gland morphology and function.

  11. Genetics and aging; the Werner syndrome as a segmental progeroid syndrome.

    Martin, G M

    1985-01-01

    The maximum lifespan potential is a constitutional feature of speciation and must be subject to polygenic controls acting both in the domain of development and in the domain of the maintenance of macromolecular integrity. The enormous genetic heterogeneity that characterizes our own species, the complexities of numerous nature-nurture interactions, and the quantitative and qualitative variations of the senescent phenotype that are observed suggest that precise patterns of aging in each of us may be unique. Patterns of aging may also differ sharply among species (for example, semelparous vs. multiparous mammals). Some potential common denominators, however, allow one to identify progeroid syndromes in man that could lead to the elucidation of important pathways of gene action. (The suffix "-oid" means "like"; it does not mean identity.) Unimodal progeroid syndromes (eg., familial dementia of the Alzheimer type, an autosomal dominant) can help us understand the pathogenesis of a particular aspect of the senescent phenotype of man. Segmental progeroid syndromes (eg. the Werner syndrome, an autosomal recessive) may be relevant to multiple aspects of the senescent phenotype. Some results of research on the Werner syndrome may be interpreted as support for "peripheral" as opposed to "central" theories of aging; they are consistent with the view that gene action in the domain of development (adolescence, in this instance) can set the stage for patterns of aging in the adult; they point to the importance of mesenchymal cell populations in the pathogenesis of age-related disorders; finally, they underscore the role of chromosomal instability, especially in the pathogenesis of neoplasia.

  12. Certainty of paternity and paternal investment in eastern bluebirds and tree swallows

    Kempenaers, Bart; Lanctot, Richard B.; Robertson, Raleigh J.

    1998-01-01

    Extra-pair paternity is common in many socially monogamous passerine birds with biparental care. Thus, males often invest in offspring to which they are not related. Models of optimal parental investment predict that, under certain assumptions, males should lower their investment in response to reduced certainty of paternity. We attempted to reduce certainty of paternity experimentally in two species, the eastern bluebird, Sialia sialis, and the tree swallow, Tachycineta bicolor, by temporarily removing fertile females on two mornings during egg laying. In both species, experimental males usually attempted to copulate with the female immediately after her reappearance, suggesting that they experienced the absence of their mate as a threat to their paternity. Experimental males copulated at a significantly higher rate than control males. However, contrary to the prediction of the model, experimental males did not invest less than control males in their offspring. There was no difference between experimental and control nests in the proportion of male feeds, male and female feeding rates, nestling growth and nestling condition and size at age 14 days. We argue that females might have restored the males’ confidence in paternity after the experiment by soliciting or accepting copulations. Alternatively, males may not reduce their effort, because the fitness costs to their own offspring may outweigh the benefits for the males, at least in populations where females cannot fully compensate for reduced male investment.

  13. Hair Coil Penile Tourniquet Syndrome in an Unusual Age

    Zengin, Kursad; Ozdamar, Mustafa Yasar; Albayrak, Sebahattin; Tanik, Serhat; Atar, Muhittin; Bakirtas, Hasan; Imamoglu, Muhammed Abdurrahim; Gurdal, Mesut

    2015-01-01

    Penile tourniquet syndrome (PTS), a rare urologic emergency, may lead to undesirable results including necrosis and amputation of penis, if not diagnosed and treated appropriately. Sometimes these injuries may be accepted as a forensic case. Miscellaneous objects used for strangulation can be metallic or nonmetallic. Of all ages, the most vulnerable period is infancy. Telogen effluvium is the most common cause of PTS in infants who are 0–6 years old. In the literature, telogen effluvium as a reason of PTS was not found except for this age group. Therefore, we aimed to present a boy who is 8 years old diagnosed as PTS because of his mother's hair coil. PMID:25763288

  14. Human mutagens: evidence from paternal exposure

    Narod, S.A.; Douglas, G.R.; Nestmann, E.R.; Blakey, D.H.

    1988-01-01

    The importance of inherited mutations as a cause of human disease has been established clearly through examples of well-defined genetic anomalies, such as Down syndrome and retinoblastoma. Furthermore, it is suspected that environmental contaminants induce mutations resulting in increased risk for such defects in subsequent generations of persons exposed. The present lack of direct evidence for induced inherited genetic disorders in human beings hampers the development of risk estimation techniques for extrapolation from animal models. The most extensive prospective epidemiologic studies of inherited genetic effects have involved survivors of atomic bomb detonations and patients treated with cancer chemotherapy. In neither case has a significant elevation in inherited genetic effects or cancer been detected in the offspring of exposed individuals. Epidemiologic studies of subjects receiving chronic exposure may be confounded by the effect of maternal exposure during pregnancy. Consideration of only paternal exposure can minimize the confounding influence of teratogenicity, enhancing the resolving power of studies for inherited effects. Using this approach, retrospective (case-control) studies of childhood cancer patients have provided limited but suggestive evidence for inheritance of induced effects. Endpoints, such as congenital malformations and spontaneous abortion following paternal exposure, can also be considered as indicators of heritable mutagenic effects. For example, there is limited evidence suggesting that paternal exposure to anaesthetic gases may cause miscarriage and congenital abnormalities as a result of induced male germ cell mutations. 104 references

  15. Age-Related Neurodegeneration and Memory Loss in Down Syndrome

    Jason P. Lockrow

    2012-01-01

    Full Text Available Down syndrome (DS is a condition where a complete or segmental chromosome 21 trisomy causes variable intellectual disability, and progressive memory loss and neurodegeneration with age. Many research groups have examined development of the brain in DS individuals, but studies on age-related changes should also be considered, with the increased lifespan observed in DS. DS leads to pathological hallmarks of Alzheimer's disease (AD by 40 or 50 years of age. Progressive age-related memory deficits occurring in both AD and in DS have been connected to degeneration of several neuronal populations, but mechanisms are not fully elucidated. Inflammation and oxidative stress are early events in DS pathology, and focusing on these pathways may lead to development of successful intervention strategies for AD associated with DS. Here we discuss recent findings and potential treatment avenues regarding development of AD neuropathology and memory loss in DS.

  16. The causal effect of paternal unemployment on children's personality

    Angelini, Viola; Bertoni, Marco; Corazzini, Luca

    2015-01-01

    Using longitudinal data from the German Socio-Economic Panel (SOEP), we show that paternal unemployment has a surprisingly positive causal effect on the "Big 5" personality traits of children aged 17 to 25. In particular, our results from longitudinal value-added models for personality suggest that paternal unemployment makes children significantly more conscientious and less neurotic. Our results are robust to different estimation methods and to selection on unobservables. Furthermore, these...

  17. Parental age and the risk of obsessive compulsive disorder and Tourette syndrome / chronic tic disorder in a nationwide population-based sample.

    Chudal, Roshan; Leivonen, Susanna; Rintala, Hanna; Hinkka-Yli-Salomäki, Susanna; Sourander, Andre

    2017-12-01

    Advancing paternal age has been associated with several neuropsychiatric disorders in children. However, there is limited understanding of this association with obsessive compulsive disorder (OCD) and Tourette syndrome/chronic tic disorder (TS/CT) with inconsistent findings. We examined the association between parental age and offspring OCD and TS/CT. This nested case-control study used the Finnish Hospital Discharge Register (FHDR) to identify 1358 individuals with OCD and 1195 with TS/CT, born from 1991 to 2009 and diagnosed by 2010. Each case was matched with four controls from the Finnish Population Register (FPR), without diagnoses of OCD, TS/CT or severe or profound mental retardation. Conditional logistic regression was used to examine the association between parental age and OCD, TS/CT. A trend of increasing odds was seen with advancing maternal age. In the final model, offspring of mothers aged 35-39 years had a 1.3-fold increased odd (OR = 1,31, 95% confidence interval (95% CI:1.03-1.66)) of OCD compared with maternal aged 25-29 years. Offspring of fathers younger than 20 years had increased odds of TS/CT in the unadjusted analysis (OR = 2.43, 95% CI: 1.27-4.56). The study limitations included using hospital diagnoses to identify cases, with limited diagnostic validity, and the possible over representation of moderate to severe cases. The lack of association between advancing paternal age and OCD is in contrast with schizophrenia, despite sharing demographic characteristics and possible shared neuropathology. Furthermore, these differences suggest different etiological pathways among TS/CT, autism spectrum disorder (ASD) and attention deficit/hyperactive disorder (ADHD), despite their frequently comorbid existence. Copyright © 2017 Elsevier B.V. All rights reserved.

  18. Hair Coil Penile Tourniquet Syndrome in an Unusual Age

    Kursad Zengin

    2015-01-01

    Full Text Available Penile tourniquet syndrome (PTS, a rare urologic emergency, may lead to undesirable results including necrosis and amputation of penis, if not diagnosed and treated appropriately. Sometimes these injuries may be accepted as a forensic case. Miscellaneous objects used for strangulation can be metallic or nonmetallic. Of all ages, the most vulnerable period is infancy. Telogen effluvium is the most common cause of PTS in infants who are 0–6 years old. In the literature, telogen effluvium as a reason of PTS was not found except for this age group. Therefore, we aimed to present a boy who is 8 years old diagnosed as PTS because of his mother’s hair coil.

  19. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

    Néstor Pacenza

    2012-01-01

    Full Text Available The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%. Most of the patients (83.7% showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.

  20. Leisure Activity and Caregiver Involvement in Middle-Aged and Older Adults with Down Syndrome

    Mihaila, Iulia; Hartley, Sigan L.; Handen, Benjamin L.; Bulova, Peter D.; Tumuluru, Rameshwari V.; Devenny, Darlynne A.; Johnson, Sterling C.; Lao, Patrick J.; Christian, Bradley, T.

    2017-01-01

    The present study examined leisure activity and its association with caregiver involvement (i.e., residence and time spent with primary caregiver) in 62 middle-aged and older adults with Down syndrome (aged 30-53 years). Findings indicated that middle-aged and older adults with Down syndrome frequently participated in social and passive leisure…

  1. Aging With Down Syndrome: The Dual Diagnosis: Alzheimer's Disease and Down Syndrome.

    Cipriani, Gabriele; Danti, Sabrina; Carlesi, Cecilia; Di Fiorino, Mario

    2018-06-01

    People with Down syndrome (DS) enjoy a longer life expectancy now than they ever have before and are therefore at greater risk of developing conditions associated with aging, including dementia. To explore the phenomenon of dementia in DS. Medline and Google Scholar searches were conducted for relevant articles, chapters, and books published until 2017. Search terms included Alzheimer's disease, cognitive impairment, dementia, DS, and trisomy 21. Publications found through this indexed search were reviewed for further references. Virtually, all subject aged 35 to 40 show key neuropathologic changes characteristic of Alzheimer's disease, but only a part of them show clinical signs of dementia, usually around the age of 50 years. Early signs of dementia in people with DS may be different from those experienced by the general population. Failure to recognize this can delay diagnosis and subsequent interventions.

  2. The impact of paternity leave on fathers' future earnings.

    Rege, Mari; Solli, Ingeborg F

    2013-12-01

    Using Norwegian registry data, we investigate the effect of paternity leave on fathers' long-term earnings. If the paternity leave increased long-term father involvement, then we should expect a reduction in fathers' long-term earnings as they shift time and effort from market to home production. For identification, we use the Norwegian introduction of a paternity-leave quota in 1993, reserving four weeks of the total of 42 weeks of paid parental leave exclusively for the father. The introduction of the paternity-leave quota led to a sharp increase in rates of leave-taking for fathers. We estimate a difference-in-differences model that exploits differences in fathers' exposure to the paternity-leave quota by the child's age and year of observation. Our analysis suggests that four weeks of paternity leave during the child's first year decreases fathers' future earnings, an effect that persists through our last point of observation, when the child is 5 years old. A battery of robustness tests supports our results.

  3. Depression and Dementia in Aging Adults with Down Syndrome: A Case Study Approach.

    Sung, Hyunsook; And Others

    1997-01-01

    A case study of three adults (ages 46-47) with Down syndrome investigated the patterns of symptoms associated with depression and dementia. Characteristics that distinguish between dementia and depression in adults with Down syndrome are described. Periodic comprehensive assessment of adults with Down syndrome to detect functioning changes is…

  4. Psychosocial factors associated with paternal postnatal depression.

    Demontigny, Francine; Girard, Marie-Eve; Lacharité, Carl; Dubeau, Diane; Devault, Annie

    2013-08-15

    While maternal postpartum depression is a well-known phenomenon, paternal postnatal depression has been less studied. It is known that paternal postnatal depression impacts on children's and families' development, affects marital satisfaction and affects the economic health of industrialized countries. The aim of this study was to identify the psychosocial factors associated with paternal postnatal depression. A descriptive-correlational study was conducted with a sample of fathers of infants (average age: 11 months) who were breastfed exclusively or predominantly for at least 6 months, comparing psychosocial factors in fathers with (n: 17, 8.2%) and without a positive score for depression on the EPDS scale (n: 188). Psychosocial factors were assessed through questionnaires. Depression in fathers of breastfed infants is associated with the experience of perinatal loss in a previous pregnancy, parenting distress, infant temperament (difficult child), dysfunctional interactions with the child, decreased marital adjustment and perceived low parenting efficacy. Multivariate analysis suggests an independent effect of psychosocial factors such as parenting distress, quality of the marital relationship and perceived parenting efficacy on paternal depression. The sample focused on fathers of breastfed infant, since breastfeeding has become the feeding norm, and this should be taken into account when considering the generalization of findings. These findings emphasize the need to consider a set of psychosocial factors when examining fathers' mental health in the first year of a child's birth. Health professionals can enhance parenting efficacy and alleviate parenting distress by supporting fathers' unique experiences and addressing their needs. Copyright © 2013 Elsevier B.V. All rights reserved.

  5. Clinical presentation of Attenuated Psychosis Syndrome in children and adolescents: Is there an age effect?

    Ribolsi, Michele; Lin, Ashleigh; Wardenaar, Klaas J; Pontillo, Maria; Mazzone, Luigi; Vicari, Stefano; Armando, Marco

    2017-06-01

    There is limited research on clinical features related to age of presentation of the Attenuated Psychosis Syndrome in children and adolescents (CAD). Based on findings in CAD with psychosis, we hypothesized that an older age at presentation of Attenuated Psychosis Syndrome would be associated with less severe symptoms and better psychosocial functioning than presentation in childhood or younger adolescence. Ninety-four CAD (age 9-18) meeting Attenuated Psychosis Syndrome criteria participated in the study. The sample was divided and compared according to the age of presentation of Attenuated Psychosis Syndrome (9-14 vs 15-18 years). The predictive value of age of Attenuated Psychosis Syndrome presentation was investigated using receiver operating characteristic (ROC)-curve calculations. The two Attenuated Psychosis Syndrome groups were homogeneous in terms of gender distribution, IQ scores and comorbid diagnoses. Older Attenuated Psychosis Syndrome patients showed better functioning and lower depressive scores. ROC curves revealed that severity of functional impairment was best predicted using an age of presentation cut-off of 14.9 years for social functioning and 15.9 years for role functioning. This study partially confirmed our hypothesis; older age at presentation of Attenuated Psychosis Syndrome was associated with less functional impairment, but age was not associated with psychotic symptoms. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  6. Repetition Priming in Adults with Williams Syndrome: Age-Related Dissociation between Implicit and Explicit Memory

    Krinsky-McHale, Sharon J.; Kittler, Phyllis; Brown, W. Ted; Jenkins, Edmund C.; Devenny, Darlynne A.

    2005-01-01

    We examined implicit and explicit memory in adults with Williams syndrome. An age-related dissociation was found; repetition priming (reflecting implicit memory) did not show change with age, but free recall (reflecting explicit memory) was markedly reduced. We also compared the performance of adults with Williams syndrome to adults with Down…

  7. Stochastic simulations of normal aging and Werner's syndrome.

    Qi, Qi

    2014-04-26

    Human cells typically consist of 23 pairs of chromosomes. Telomeres are repetitive sequences of DNA located at the ends of chromosomes. During cell replication, a number of basepairs are lost from the end of the chromosome and this shortening restricts the number of divisions that a cell can complete before it becomes senescent, or non-replicative. In this paper, we use Monte Carlo simulations to form a stochastic model of telomere shortening to investigate how telomere shortening affects normal aging. Using this model, we study various hypotheses for the way in which shortening occurs by comparing their impact on aging at the chromosome and cell levels. We consider different types of length-dependent loss and replication probabilities to describe these processes. After analyzing a simple model for a population of independent chromosomes, we simulate a population of cells in which each cell has 46 chromosomes and the shortest telomere governs the replicative potential of the cell. We generalize these simulations to Werner\\'s syndrome, a condition in which large sections of DNA are removed during cell division and, amongst other conditions, results in rapid aging. Since the mechanisms governing the loss of additional basepairs are not known, we use our model to simulate a variety of possible forms for the rate at which additional telomeres are lost per replication and several expressions for how the probability of cell division depends on telomere length. As well as the evolution of the mean telomere length, we consider the standard deviation and the shape of the distribution. We compare our results with a variety of data from the literature, covering both experimental data and previous models. We find good agreement for the evolution of telomere length when plotted against population doubling.

  8. Increasing paternal responsibility.

    Cutright, P

    1985-01-01

    Increasing numbers of fathers of children born out of wedlock are not contributing to these children's economic support. In 1981, a tiny minority (14%) of the 1.7 million never-married mothers living with a child with an absent father had a child-support award, and of these, just 112,000 actually received some payment in 1981. The high rates of noncompliance, and the low level of legal efforts to enforce child support, are the result of attempts to collect payments through inefficient traditional methods, not the inability of fathers to pay, a Wisconsin study has shown. A basic problem with collecting child support under the present system is that it relies on fathers to control their expenditures and voluntarily to send the payment on a weekly, biweekly or monthly basis, year after year. As a Wisconsin study shows, full compliance with court-ordered payments dropped from 38% in the 1st year to below 20% by the 5th year among 163 ex-husbands tracked. A proposal by researchers at the University of Wisconsin's Institute for Research on Poverty calls for an "absent-parent tax." The Wisconsin Plan, as it is known, is simply a withholding tax based on the father's gross income and the number of his absent children. If his income falls below a certain level, payments will stop automatically, but will resume if and when it rises above the cutoff point. The Wisconsin plan removes all judicial discretion and lawyer's skill as factors in child-support awards, thus eliminating erratic awards. It also insures that support payments will be maintained during periods of conflict between the father and mother. However, before the Wisconsin Plan can effectively protect children both out of wedlock, a feature needs to be added that will establish paternity at birth. Imposing a real child-support obligation on fathers of children born outside of marriage will introduce a potentially powerful economic incentive for responsible male reproductive and parental behavior.

  9. Androgen deficiency and dry eye syndrome in the aging male.

    Azcarate, Patrick M; Venincasa, Vincent D; Feuer, William; Stanczyk, Frank; Schally, Andrew V; Galor, Anat

    2014-07-03

    To evaluate the relationship between androgen levels and subjective and objective measures of dry eye syndrome (DES). A total of 263 male patients from the Miami Veterans Affairs Medical Center eye clinic aged ≥50 were recruited for this prospective cross-sectional study. Patients completed Dry Eye Questionnaire 5, underwent tear film evaluation, and had serum androgen levels measured. The correlations between androgen levels, DES composite scores, DES symptoms, and global, lipid, and aqueous tear film parameters were evaluated. Two hundred sixty-three patients with a mean age of 69 (50-95) were examined. There was no linear association between composite DES scores (generated using latent class analysis) and androgen levels. However, eyes with high DES scores (0.95-1.0) had higher levels of sex hormone-binding globulin (P = 0.03) and lower levels of dehydroepiandrosterone sulfate (DHEAS) (P = 0.02), androstenedione (A) (P = 0.02), and androstane-3α,17β-diol glucuronide (P = 0.03) compared to eyes with intermediate (0.05-0.95) or low (0-0.05) scores. There were no strong correlations between tear film measures and androgen levels. Regarding global parameters, a weak inverse correlation was found between corneal staining and A (r = -0.17, P = 0.009). For lipid parameters, a weak correlation existed between tear breakup time (TBUT) and A (r = 0.15, P = 0.02). When considering aqueous and lipid deficiency independently, the association between TBUT and A existed only with aqueous tear deficiency (r = 0.66, P = 0.002). Regarding aqueous parameters, a weak correlation existed between Schirmer test and DHEAS (r = 0.13, P = 0.047) and A (r = 0.21, P = 0.001). There was a weak correlation between higher levels of androstenedione and healthier global, lipid, and aqueous tear film parameters. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.

  10. Leisure Activity and Caregiver Involvement in Middle-Aged and Older Adults With Down Syndrome

    Mihaila, Iulia; Hartley, Sigan L.; Handen, Benjamin L.; Bulova, Peter D.; Tumuluru, Rameshwari V.; Devenny, Darlynne A.; Johnson, Sterling C.; Lao, Patrick J.; Christian, Bradley T.

    2017-01-01

    The present study examined leisure activity and its association with caregiver involvement (i.e., residence and time spent with primary caregiver) in 62 middle-aged and older adults with Down syndrome (aged 30–53 years). Findings indicated that middle-aged and older adults with Down syndrome frequently participated in social and passive leisure activities, with low participation in physical and mentally stimulating leisure activities. Residence and time spent with primary caregiver were assoc...

  11. Estradiol to testosterone ratio in metabolic syndrome men aged started 40 years above

    Kusuma, R.; Siregar, Y.; Mardianto

    2018-03-01

    Disruption of adipose tissue, an endocrine organ, could turn out into the so-called metabolic syndrome. Aging men with lowering testosterone were related to metabolic syndrome and excessive aromatase activity in adipose tissue would increase estradiol level. This study hypothesized that estradiol to testosterone ratio is increasedin aging, metabolic syndrome men. A total of 52 men were randomly recruited for this study. A blood samplewas drawn before 11.00 AM after 10 hoursof overnight fasting, then aliquot serum kept in -20°C pending the research. Subjects were divided evenly into the metabolic syndrome and nonmetabolicsyndrome group. The hormonal assaywas measured on the day of research. Then examined with student t-test. Estradiol level in metabolic syndrome group was increased, but insignificant differ to the other group. Testosterone level decreased and significantly different between groups. In conclusion, estradiol to testosterone ratio was increased in themetabolic syndrome group but insignificant.

  12. Religion, Convention, and Paternal Involvement.

    Wilcox, W. Bradford

    2002-01-01

    Examines the influence of religious affiliation and attendance on the involvement of residential fathers in one-on-one activities, dinner with their families, and youth activities and found religious effects for each of these three measures. The study indicates that religion is related to paternal involvement in all three areas that were examined.…

  13. Maternal and paternal genetic diversity of ancient sheep in Estonia from the Late Bronze Age to the post-medieval period and comparison with other regions in Eurasia.

    Rannamäe, E; Lõugas, L; Niemi, M; Kantanen, J; Maldre, L; Kadõrova, N; Saarma, U

    2016-04-01

    Sheep were among the first domesticated animals to appear in Estonia in the late Neolithic and became one of the most widespread livestock species in the region from the Late Bronze Age onwards. However, the origin and historical expansion of local sheep populations in Estonia remain poorly understood. Here, we analysed fragments of the hypervariable D-loop of mitochondrial DNA (mtDNA; 213 bp) and the Y-chromosome SRY gene (130 bp) extracted from 31 archaeological sheep bones dated from approximately 800 BC to 1700 AD. The ancient DNA data of sheep from Estonia were compared with ancient sheep from Finland as well as a set of contemporary sheep breeds from across Eurasia in order to place them in a wider phylogeographical context. The analysis shows that: (i) 24 successfully amplified and analysed mtDNA sequences of ancient sheep cluster into two haplogroups, A and B, of which B is predominant; (ii) four of the ancient mtDNA haplotypes are novel; (iii) higher mtDNA haplotype diversity occurred during the Middle Ages as compared to other periods, a fact concordant with the historical context of expanding international trade during the Middle Ages; (iv) the proportion of rarer haplotypes declined during the expansion of sheep from the Near Eastern domestication centre to the northern European region; (v) three male samples showed the presence of the characteristic northern European haplotype, SNP G-oY1 of the Y-chromosome, and represent the earliest occurrence of this haplotype. Our results provide the first insight into the genetic diversity and phylogeographical background of ancient sheep in Estonia and provide basis for further studies on the temporal fluctuations of ancient sheep populations. © 2016 Stichting International Foundation for Animal Genetics.

  14. Decline in cerebral glucose utilisation and cognitive function with aging in Down's syndrome.

    Schapiro, M B; Haxby, J V; Grady, C L; Duara, R; Schlageter, N L; White, B; Moore, A; Sundaram, M; Larson, S M; Rapoport, S I

    1987-01-01

    The cerebral metabolic rate for glucose (CMRglc) was measured with positron emission tomography and [18F]2-fluoro-2-deoxy-D-glucose in 14 healthy subjects with Down's syndrome, 19 to 33 years old, and in six healthy Down's syndrome subjects over 35 years, two of whom were demented. Dementia was diagnosed from a history of mental deterioration, disorientation and hallucinations. All Down's syndrome subjects were trisomy 21 karyotype. CMRglc also was examined in 15 healthy men aged 20-35 years ...

  15. Prevalence of metabolic syndrome in adolescents aged 10-18 years in Jammu, J and K

    Narinder Singh

    2013-01-01

    Full Text Available Objective: To estimate the prevalence of metabolic syndrome among adolescents attending school in the Jammu region, India. Materials and Methods: This is a cross-sectional study conducted between November 2009 and December 2010, among a total of 1160 school-going adolescents of both sexes aged 10-18 years. Relevant metabolic and anthropometric variables were analyzed and criteria suggested by National Cholesterol Education Program Adult Treatment Panel Third (NCEP-ATP III modified for age was used to define metabolic syndrome. Results: The overall prevalence of metabolic syndrome was 2.6%. Prevalence of metabolic syndrome was higher in males (3.84% than in females (1.6% and slightly higher in urban area (2.80% than in rural area (2.52%, whereas prevalence of metabolic syndrome among centrally obese subjects was as high as 33.33%. High density lipoprotein cholesterol was the most common and high blood pressure was the least common constituent of metabolic syndrome. Metabolic syndrome was most prevalent in 16-18 years age group (4.79%. Conclusion : This study demonstrates that metabolic syndrome phenotype exists in substantial number (up to 3% of adolescent population in the Jammu region, India, and particularly 33% of obese adolescents are at risk to develop metabolic syndrome. These findings pose a serious threat to the current and future health of these young people.

  16. Association of age at menarche with metabolic syndrome and its components in rural Bangladeshi women

    Akter Shamima

    2012-11-01

    Full Text Available Abstract Background Early age at menarche is associated with increased risk of metabolic syndrome in both China and the West. However, little is known about the impact of age at menarche and metabolic syndrome in South Asian women, including those from low-income country, where age at menarche is also falling. The aim of the present study was to investigate whether age at menarche is inversely associated with metabolic syndrome in Bangladeshi women, who are mostly poor and have limited access to and or poor health care facilities. Methods This community-based cross-sectional study was performed using 1423 women aged between 15–75 years from rural Bangladesh in 2009 and 2010. Metabolic syndrome was defined according to standard NCEP-ATP III criteria. Logistic regression was used to estimate the association between age at menarche and metabolic syndrome, with adjustment of potential confounding variables, including age, education, marital status, tobacco users, use of contraceptives and number of pregnancies. Results Early onset of menarche (13 years was found to be associated with a higher prevalence of metabolic syndrome (odds ratio=1.55; 95 % confidence interval =1.05-2.30. Age at onset of menarche was also inversely associated with prevalence of high triglycerides (P for trend P for trend = 0.01, but positively associated with prevalence of high fasting blood glucose (P for trend =0.02. However, no significant association was found between age at menarche, high blood pressure and elevated waist circumference. Conclusion Early onset of menarche might promote or trigger development of metabolic syndrome. Thus, knowledge of the history of age at onset of menarche may be critical in identifying women at risk of developing metabolic syndrome and those likely to benefit the most from early interventions.

  17. Age and Pattern of Intellectual Decline among Down Syndrome and Other Mentally Retarded Adults.

    Gibson, David; And Others

    1988-01-01

    A study of 18 Down Syndrome and 18 other mentally retarded adults found evidence of a significant erosion of Wechsler Intelligence Scale for Children scores from the third to fourth decades of life. The Block Design subtest was especially vulnerable to performance decline with age in the Down Syndrome adults. (Author/JDD)

  18. Decline in cerebral glucose utilisation and cognitive function with aging in Down's syndrome.

    Schapiro, M B; Haxby, J V; Grady, C L; Duara, R; Schlageter, N L; White, B; Moore, A; Sundaram, M; Larson, S M; Rapoport, S I

    1987-01-01

    The cerebral metabolic rate for glucose (CMRglc) was measured with positron emission tomography and [18F]2-fluoro-2-deoxy-D-glucose in 14 healthy subjects with Down's syndrome, 19 to 33 years old, and in six healthy Down's syndrome subjects over 35 years, two of whom were demented. Dementia was diagnosed from a history of mental deterioration, disorientation and hallucinations. All Down's syndrome subjects were trisomy 21 karyotype. CMRglc also was examined in 15 healthy men aged 20-35 years and in 20 healthy men aged 45-64 years. All subjects were at rest with eyes covered and ears plugged. Mean hemispheric CMRglc in the older Down's syndrome subjects was significantly less, by 23%, than in the young Down's syndrome group; statistically significant decreases in regional metabolism (rCMRglc) also were present in all lobar regions. Comparison of the younger control group with the older control group showed no difference in CMRglc or any rCMRglc (p greater than 0.05). Assessment of language, visuospatial ability, attention and memory showed significant reductions in test scores of the old as compared with the young Down's syndrome subjects. These results show that significant age differences in CMRglc and rCMRglc occur in Down's syndrome but not in healthy controls, and that, although only some older Down's syndrome subjects are demented, significant age reductions in neuropsychologic variables occur in all of them. PMID:2956363

  19. Decline in cerebral glucose utilisation and cognitive function with aging in Down's syndrome.

    Schapiro, M B; Haxby, J V; Grady, C L; Duara, R; Schlageter, N L; White, B; Moore, A; Sundaram, M; Larson, S M; Rapoport, S I

    1987-06-01

    The cerebral metabolic rate for glucose (CMRglc) was measured with positron emission tomography and [18F]2-fluoro-2-deoxy-D-glucose in 14 healthy subjects with Down's syndrome, 19 to 33 years old, and in six healthy Down's syndrome subjects over 35 years, two of whom were demented. Dementia was diagnosed from a history of mental deterioration, disorientation and hallucinations. All Down's syndrome subjects were trisomy 21 karyotype. CMRglc also was examined in 15 healthy men aged 20-35 years and in 20 healthy men aged 45-64 years. All subjects were at rest with eyes covered and ears plugged. Mean hemispheric CMRglc in the older Down's syndrome subjects was significantly less, by 23%, than in the young Down's syndrome group; statistically significant decreases in regional metabolism (rCMRglc) also were present in all lobar regions. Comparison of the younger control group with the older control group showed no difference in CMRglc or any rCMRglc (p greater than 0.05). Assessment of language, visuospatial ability, attention and memory showed significant reductions in test scores of the old as compared with the young Down's syndrome subjects. These results show that significant age differences in CMRglc and rCMRglc occur in Down's syndrome but not in healthy controls, and that, although only some older Down's syndrome subjects are demented, significant age reductions in neuropsychologic variables occur in all of them.

  20. Developmental Trajectories of Structural and Pragmatic Language Skills in School-Aged Children with Williams Syndrome

    Van Den Heuvel, E.; Manders, E.; Swillen, A.; Zink, I.

    2016-01-01

    Background: This study aimed to compare developmental courses of structural and pragmatic language skills in school-aged children with Williams syndrome (WS) and children with idiopathic intellectual disability (IID). Comparison of these language trajectories could highlight syndrome-specific developmental features. Method: Twelve monolingual…

  1. [Behaviour problems of children with Down syndrome in preschool-age - Results from the Heidelberg Down syndrome study].

    Sarimski, Klaus

    2018-05-01

    We report on the frequency and the correlations of behaviour problems among children with Down syndrome in preschool-age. As part of a longitudinal study 48 mothers of children with Down syndrome completed the German version of the “Strengths and Difficulties Questionnaire” (SDQ-D) and the Parenting Stress Inventory (PSI). The mothers were asked to fill out the questionnaires when the children had a mean age of five years. The results were compared to norms from children with typical development. Thirty per cent of the children with Down syndrome were rated as abnormal. Specifically, mean scores indicating problems with children of the same age and hyperactivity were elevated. A regression analysis predicting the total problem score of the SDQ-D revealed maternal educational level, optimistic attitude, and subjective parental stress at the age of one year and the degree of behavioural abnormalities at the age of three years as significant influential factors. Early intervention for Down syndrome children should include supporting parenting competence and coping skills in order to prevent behaviour problems.

  2. Parents' Relative Socioeconomic Status and Paternal Involvement in Chinese Families: The Mediating Role of Coparenting.

    Liu, Chang; Wu, Xinchun; Zou, Shengqi

    2016-01-01

    This study examined the mediating role of coparenting in the association between differences/similarities in paternal and maternal socioeconomic status (SES) and paternal involvement in Chinese families. The sample included 244 couples with children aged 3-7 years. Fathers and mothers reported their individual incomes, educational levels, occupations, and coparenting behavior (measured using the Coparenting Scale), and fathers completed the Father Involvement Questionnaire. Structural equation modeling was performed to examine the associations between SES and paternal involvement. Results suggested that SES indicator measures were outcome specific. Occupational differences/similarities were associated with paternal involvement indirectly, via fathers' family integrity practices. Income and educational differences/similarities did not affect paternal involvement. The results suggested that the traditional Chinese view that "men are chiefly responsible for activity in society, while women are responsible for the home" has faded.

  3. Paternal Autonomy Restriction, Neighborhood Safety, and Child Anxiety Trajectory in Community Youth

    Cooper-Vince, Christine E.; Chan, Priscilla T.; Pincus, Donna B.; Comer, Jonathan S.

    2014-01-01

    Intrusive parenting, primarily examined among middle to upper-middle class mothers, has been positively associated with the presence and severity of anxiety in children. This study employed cross-sectional linear regression and longitudinal latent growth curve analyses to evaluate the main and interactive effects of early childhood paternal autonomy restriction (AR) and neighborhood safety (NS) on the trajectory of child anxiety in a sample of 596 community children and fathers from the NICHD SECYD. Longitudinal analyses revealed that greater paternal AR at age 6 was actually associated with greater decreases in child anxiety in later childhood. Cross-sectional analyses revealed main effects for NS across childhood, and interactive effects of paternal AR and NS that were present only in early childhood, whereby children living in safer neighborhoods demonstrated increased anxiety when experiencing lower levels of paternal AR. Findings further clarify for whom and when paternal AR impacts child anxiety in community youth. PMID:25242837

  4. Paternal Autonomy Restriction, Neighborhood Safety, and Child Anxiety Trajectory in Community Youth.

    Cooper-Vince, Christine E; Chan, Priscilla T; Pincus, Donna B; Comer, Jonathan S

    2014-07-01

    Intrusive parenting, primarily examined among middle to upper-middle class mothers, has been positively associated with the presence and severity of anxiety in children. This study employed cross-sectional linear regression and longitudinal latent growth curve analyses to evaluate the main and interactive effects of early childhood paternal autonomy restriction (AR) and neighborhood safety (NS) on the trajectory of child anxiety in a sample of 596 community children and fathers from the NICHD SECYD. Longitudinal analyses revealed that greater paternal AR at age 6 was actually associated with greater decreases in child anxiety in later childhood. Cross-sectional analyses revealed main effects for NS across childhood, and interactive effects of paternal AR and NS that were present only in early childhood, whereby children living in safer neighborhoods demonstrated increased anxiety when experiencing lower levels of paternal AR. Findings further clarify for whom and when paternal AR impacts child anxiety in community youth.

  5. Lifetime prevalence, age of risk, and genetic relationships of comorbid psychiatric disorders in Tourette syndrome

    Hirschtritt, M.E.; Lee, P.C.; Pauls, D.L.; Dion, Y.; Grados, M.A.; Illmann, C.; King, R.A.; Sandor, P.; McMahon, W.M.; Lyon, G.J.; Cath, D.C.; Kurlan, R.; Robertson, M.M.; Osiecki, L.; Scharf, J.M.; Mathews, C.A.; Posthuma, D.; Singer, H.S.; Yu, D.; Cox, N.J.; Freimer, N.B.; Budman, C.L.; Chouinard, S.; Rouleau, G.; Barr, C.L.

    2015-01-01

    Importance: Tourette syndrome (TS) is characterized by high rates of psychiatric comorbidity; however, fewstudies have fully characterized these comorbidities. Furthermore, most studies have included relatively fewparticipants (< 200), and none has examined the ages of highest risk for each

  6. Lifetime Prevalence, Age of Risk, and Genetic Relationships of Comorbid Psychiatric Disorders in Tourette Syndrome

    Hirschtritt, Matthew E; Lee, Paul C; Pauls, David L; Dion, Yves; Grados, Marco A; Illmann, Cornelia; King, Robert A; Sandor, Paul; McMahon, William M; Lyon, Gholson J; Cath, Danielle C; Kurlan, Roger; Robertson, Mary M; Osiecki, Lisa; Scharf, Jeremiah M; Mathews, Carol A

    IMPORTANCE: Tourette syndrome (TS) is characterized by high rates of psychiatric comorbidity; however, few studies have fully characterized these comorbidities. Furthermore, most studies have included relatively few participants (<200), and none has examined the ages of highest risk for each

  7. Patients with old age or proximal tumors benefit from metabolic syndrome in early stage gastric cancer.

    Xiao-li Wei

    Full Text Available BACKGROUND: Metabolic syndrome and/or its components have been demonstrated to be risk factors for several cancers. They are also found to influence survival in breast, colon and prostate cancer, but the prognostic value of metabolic syndrome in gastric cancer has not been investigated. METHODS: Clinical data and pre-treatment information of metabolic syndrome of 587 patients diagnosed with early stage gastric cancer were retrospectively collected. The associations of metabolic syndrome and/or its components with clinical characteristics and overall survival in early stage gastric cancer were analyzed. RESULTS: Metabolic syndrome was identified to be associated with a higher tumor cell differentiation (P=0.036. Metabolic syndrome was also demonstrated to be a significant and independent predictor for better survival in patients aged >50 years old (P=0.009 in multivariate analysis or patients with proximal gastric cancer (P=0.047 in multivariate analysis. No association was found between single metabolic syndrome component and overall survival in early stage gastric cancer. In addition, patients with hypertension might have a trend of better survival through a good control of blood pressure (P=0.052 in univariate analysis. CONCLUSIONS: Metabolic syndrome was associated with a better tumor cell differentiation in patients with early stage gastric cancer. Moreover, metabolic syndrome was a significant and independent predictor for better survival in patients with old age or proximal tumors.

  8. Complex exercise rehabilitation program for women of the II period of age with metabolic syndrome

    Lee, Eun-Ok; Olga, Kozyreva

    2013-01-01

    The purpose of this study was to develop a complex exercise program integrating Eastern and Western complex exercise rehabilitation programs in order to examine the effects of it on the human body with the subjects for women of the II period of mature age with metabolic syndrome. The subjects of this study are 60 II period of mature aged women with metabolic syndrome living in G City, and the experimental group conducted Taekwon-aerobic exercise, European rehabilitation gymnastics, gym ball e...

  9. Infants with Down Syndrome: Percentage and Age for Acquisition of Gross Motor Skills

    Pereira, Karina; Basso, Renata Pedrolongo; Lindquist, Ana Raquel Rodrigues; da Silva, Louise Gracelli Pereira; Tudella, Eloisa

    2013-01-01

    The literature is bereft of information about the age at which infants with Down syndrome (DS) acquire motor skills and the percentage of infants that do so by the age of 12 months. Therefore, it is necessary to identify the difference in age, in relation to typical infants, at which motor skills were acquired and the percentage of infants with DS…

  10. Paternal body mass index (BMI is associated with offspring intrauterine growth in a gender dependent manner.

    You-Peng Chen

    Full Text Available BACKGROUND: Environmental alternations leading to fetal programming of cardiovascular diseases in later life have been attributed to maternal factors. However, animal studies showed that paternal obesity may program cardio-metabolic diseases in the offspring. In the current study we tested the hypothesis that paternal BMI may be associated with fetal growth. METHODS AND RESULTS: We analyzed the relationship between paternal body mass index (BMI and birth weight, ultrasound parameters describing the newborn's body shape as well as parameters describing the newborns endocrine system such as cortisol, aldosterone, renin activity and fetal glycated serum protein in a birth cohort of 899 father/mother/child triplets. Since fetal programming is an offspring sex specific process, male and female offspring were analyzed separately. Multivariable regression analyses considering maternal BMI, paternal and maternal age, hypertension during pregnancy, maternal total glycated serum protein, parity and either gestational age (for birth weight or time of ultrasound investigation (for ultrasound parameters as confounding showed that paternal BMI is associated with growth of the male but not female offspring. Paternal BMI correlated with birth parameters of male offspring only: birth weight; biparietal diameter, head circumference; abdominal diameter, abdominal circumference; and pectoral diameter. Cortisol was likewise significantly correlated with paternal BMI in male newborns only. CONCLUSIONS: Paternal BMI affects growth of the male but not female offspring. Paternal BMI may thus represent a risk factor for cardiovascular diseases of male offspring in later life. It remains to be demonstrated whether this is linked to an offspring sex specific paternal programming of cortisol secretion.

  11. Autism Spectrum Disorder in Children and Adolescents with Fragile X Syndrome: Within-Syndrome Differences and Age-Related Changes

    McDuffie, Andrea; Abbeduto, Leonard; Lewis, Pamela; Kover, Sara; Kim, Jee-Seon; Weber, Ann; Brown, W. Ted

    2010-01-01

    The Autism Diagnostic Interview-Revised (ADI-R) was used to examine diagnostic profiles and age-related changes in autism symptoms for a group of verbal children and adolescents who had fragile X syndrome, with and without autism. After controlling for nonverbal IQ, we found statistically significant between-group differences for lifetime and…

  12. Elevated estimated arterial age is associated with metabolic syndrome and low-grade inflammation

    Greve, Sara V; Blicher, Marie K; Kruger, Ruan

    2016-01-01

    BACKGROUND: Arterial age can be estimated from equations relating arterial stiffness to age and blood pressure in large cohorts. We investigated whether estimated arterial age (eAA) was elevated in patients with the metabolic syndrome and/or known cardiovascular disease (CVD), which factors were...... of metabolic syndrome, Systematic COronary Risk Evaluation, or Framingham risk score. From age, mean blood pressure, and cfPWV, eAA and estimated cfPWV (ePWV) were calculated. In 2006, the combined cardiovascular endpoint (CEP) of cardiovascular death, nonfatal myocardial infarction, nonfatal stroke...

  13. Tourette Syndrome and Associated Features and the School Aged Child.

    Willis, Christopher

    Tourette Syndrome (TS) is described as a genetically based, chronic constellation of neurobehavioral symptoms and associated features involving repetitive, simple, and/or complex motor and phonic tics. Treatment generally involves neuroleptic medication. Symptoms of obsessive-compulsive disorder, attention deficit hyperactive disorder, learning…

  14. Down's syndrome in South Africa - incidence, maternal age and ...

    Down's syndrome (DS) is the most common chromosomal cause of mental retardation, and amniocentesis is the most significant factor affecting its prevalence. In South Africa, prenatal cytogenetic diagnoses have been available for just over a decade and the utilisation and effect of this procedure in the white population ...

  15. Hubungan Kejadian Penyakit Autistik pada Anak dengan Usia Maternal dan Paternal di Kota Medan

    Stefani

    2012-01-01

    Autism is a developmental disorder characterized by serious impairments in social interaction and language development. In Indonesia, cases of autism are approximately 7000 cases. In Medan, estimated there are 250 kids with autism born per year and has increased dramatically in recent years. One of the factors that could cause this disorder is paternal and maternal age. The purpose of this study is to determine the relationship between paternal and maternal age with Autism in children. Th...

  16. Association of missing paternal demographics on infant birth certificates with perinatal risk factors for childhood obesity

    Erika R. Cheng

    2016-07-01

    Full Text Available Abstract Background The role of fathers in the development of obesity in their offspring remains poorly understood. We evaluated associations of missing paternal demographic information on birth certificates with perinatal risk factors for childhood obesity. Methods Data were from the Linked CENTURY Study, a database linking birth certificate and well-child visit data for 200,258 Massachusetts children from 1980–2008. We categorized participants based on the availability of paternal age, education, or race/ethnicity and maternal marital status on the birth certificate: (1 pregnancies missing paternal data; (2 pregnancies involving unmarried women with paternal data; and (3 pregnancies involving married women with paternal data. Using linear and logistic regression, we compared differences in smoking during pregnancy, gestational diabetes, birthweight, breastfeeding initiation, and ever recording a weight for length (WFL ≥ the 95th percentile or crossing upwards ≥2 WFL percentiles between 0–24 months among the study groups. Results 11,989 (6.0 % birth certificates were missing paternal data; 31,323 (15.6 % mothers were unmarried. In adjusted analyses, missing paternal data was associated with lower birthweight (β -0.07 kg; 95 % CI: −0.08, −0.05, smoking during pregnancy (AOR 4.40; 95 % CI: 3.97, 4.87, non-initiation of breastfeeding (AOR 0.39; 95 % CI: 0.36, 0.42, and with ever having a WFL ≥ 95th percentile (AOR 1.10; 95 % CI: 1.01, 1.20. Similar associations were noted for pregnancies involving unmarried women with paternal data, but differences were less pronounced. Conclusions Missing paternal data on the birth certificate is associated with perinatal risk factors for childhood obesity. Efforts to understand and reduce obesity risk factors in early life may need to consider paternal factors.

  17. Beyond Boys' Bad Behavior: Paternal Incarceration and Cognitive Development in Middle Childhood.

    Haskins, Anna R

    2016-12-07

    A growing number of American school-aged children have incarcerated or formally incarcerated parents necessitating a more comprehensive understanding of the intergenerational effects of mass imprisonment. Using the Fragile Families Study, I assess whether having an incarcerated father impacts children's cognitive skill development into middle childhood. While previous studies have primarily found effects for boys' behavior problems, matching models and sensitivity analyses demonstrate that experiencing paternal incarceration by age 9 is associated with lower cognitive skills for both boys and girls and these negative effects hold net of a pre-paternal incarceration measure of child cognitive ability. Moreover, I estimate that paternal incarceration explains between 2 and 15 percent of the Black-White achievement gap at age 9. These findings represent new outcomes of importance and suggest that paternal incarceration may play an even larger role in the production of intergenerational inequalities for American children than previously documented.

  18. Beyond Boys’ Bad Behavior: Paternal Incarceration and Cognitive Development in Middle Childhood

    Haskins, Anna R.

    2017-01-01

    A growing number of American school-aged children have incarcerated or formally incarcerated parents necessitating a more comprehensive understanding of the intergenerational effects of mass imprisonment. Using the Fragile Families Study, I assess whether having an incarcerated father impacts children’s cognitive skill development into middle childhood. While previous studies have primarily found effects for boys’ behavior problems, matching models and sensitivity analyses demonstrate that experiencing paternal incarceration by age 9 is associated with lower cognitive skills for both boys and girls and these negative effects hold net of a pre-paternal incarceration measure of child cognitive ability. Moreover, I estimate that paternal incarceration explains between 2 and 15 percent of the Black-White achievement gap at age 9. These findings represent new outcomes of importance and suggest that paternal incarceration may play an even larger role in the production of intergenerational inequalities for American children than previously documented. PMID:28579646

  19. Testosterone and paternal care in East African foragers and pastoralists

    Muller, Martin N.; Marlowe, Frank W.; Bugumba, Revocatus; Ellison, Peter T.

    2008-01-01

    The ‘challenge hypothesis’ posits that testosterone facilitates reproductive effort (investment in male–male competition and mate-seeking) at the expense of parenting effort (investment in offspring and mates). Multiple studies, primarily in North America, have shown that men in committed relationships, fathers, or both maintain lower levels of testosterone than unpaired men. Data from non-western populations, however, show inconsistent results. We hypothesized that much of this cross-cultural variation can be attributed to differential investment in mating versus parenting effort, even among married fathers. Here, we directly test this idea by comparing two neighbouring Tanzanian groups that exhibit divergent styles of paternal involvement: Hadza foragers and Datoga pastoralists. We predicted that high levels of paternal care by Hadza fathers would be associated with decreased testosterone in comparison with non-fathers, and that no such difference between fathers and non-fathers would be evident in Datoga men, who provide minimal direct paternal care. Twenty-seven Hadza men and 80 Datoga men between the ages of 17 and 60 provided morning and afternoon saliva samples from which testosterone was assayed. Measurements in both populations confirmed these predictions, adding further support to the hypothesis that paternal care is associated with decreased testosterone production in men. PMID:18826936

  20. Fathers and Asthma Care: Paternal Involvement, Beliefs, and Management Skills.

    Friedman, Deborah; Masek, Bruce; Barreto, Esteban; Baer, Lee; Lapey, Allen; Budge, Eduardo; McQuaid, Elizabeth L

    2015-09-01

    To compare asthma care roles of maternal and paternal caregivers, and examine associations between caregiver involvement and the outcomes of adherence, morbidity, and parental quality of life (QoL). Mothers and fathers in 63 families of children, ages 5-9 years, with persistent asthma completed semistructured interviews and questionnaires. Adherence was measured via electronic monitoring. Paired t tests compared parental asthma care roles, and analysis of covariance, controlling for socioeconomic status, evaluated associations of asthma outcomes with caregiver involvement scores. Mothers had higher scores on measures of involvement, beliefs in medication necessity, and on four subscales of the Family Asthma Management System Scale interview (Asthma Knowledge, Relationship with Provider, Symptom Assessment, and Response to Symptoms). Maternal QoL was lowest when both maternal and paternal involvement was high. Paternal involvement was associated with increased morbidity. There is room for enhancement of fathers' asthma care roles. Higher levels of paternal involvement may be driven by family need. © The Author 2015. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  1. Brain CT studies in 26 cases of aged patients with Down syndrome

    Arai, Yukio; Yoshihara, Sachiko; Iinuma, Kazuso.

    1995-01-01

    Computed tomographic images of brains from 26 individuals (10 males and 16 females) with Down syndrome were analysed for roentgenographic measurement. Their ages ranged from 14 to 47 years, the average being 28 years. The results showed that their Sylvian fissure ratio was larger in the aged group. A high incidence of calcification in basal ganglia, choroid plexus and pineal body was noted (85%). An increased Sylvian fissure ratio and a high incidence of intracranial calcification may be practically used as representatives of premature aging. Furthermore, a high incidence of mega cisterna magna implicates that it is worthy of study whether individuals with Down syndrome have a predisposition to underdevelopment of cerebellum. (author)

  2. Stochastic simulations of normal aging and Werner's syndrome.

    Qi, Qi; Wattis, Jonathan A D; Byrne, Helen M

    2014-01-01

    aging. Using this model, we study various hypotheses for the way in which shortening occurs by comparing their impact on aging at the chromosome and cell levels. We consider different types of length-dependent loss and replication probabilities

  3. EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state

    Sadleir, L.G.; Scheffer, I.E.; Smith, S.

    2009-01-01

    Purpose: Factors influencing the electroencephalography (EEG) features of absence seizures in newly presenting children with idiopathic generalized epilepsy (IGE) have not been rigorously studied. We examined how specific factors such as state, provocation, age, and epilepsy syndrome affect the EEG...... features of absence seizures. Methods: Children with untreated absence seizures were studied using video-EEG recording. The influence of state of arousal, provocation (hyperventilation, photic stimulation), age, and epilepsy syndrome on specific EEG features was analyzed. Results: Five hundred nine...... seizures were evaluated in 70 children with the following syndromes: childhood absence epilepsy (CAE) 37, CAE+ photoparoxysmal response (PPR) 10, juvenile absence epilepsy (JAE) 8, juvenile myoclonic epilepsy (JME) 6, and unclassified 9. Polyspikes occurred in all syndromes but were more common in JME...

  4. [Parenting Stress in Mothers of Children with Down Syndrome in Preschool Age].

    Sarimski, Klaus

    2017-11-01

    Parenting Stress in Mothers of Children with Down Syndrome in Preschool Age Research suggests that parenting stress is elevated in parents of children with intellectual disabilities. However, data are inconsistent if this holds true for parents of children with Down syndrome. As part of the Heidelberg Down syndrome study, 52 mothers of children with Down syndrome (mean age: 5 years) completed the German adaptation of the Parenting Stress Index. These results show significantly elevated stress scores in scales measuring demanding and less acceptable behavior of the children (child characteristics). Scores in scales measuring parent characteristics do not differ significantly from the norms. Global stress scores are associated with the degree of behavioral problems (SDQ) and adaptive competence (VABS-II). A regression analysis points to optimism as a dispositional trait of the mother which makes a significant contribution to the prediction of parenting stress scores. The implications for early intervention are discussed.

  5. The Evaluation of a Personal Narrative Language Intervention for School-Age Children with Down Syndrome

    Finestack, Lizbeth; O'Brien, Katy H.; Hyppa-Martin, Jolene; Lyrek, Kristen A.

    2017-01-01

    The purpose of this study was to evaluate the feasibility of an intervention focused on improving personal narrative skills of school-age children with Down syndrome (DS) using an approach involving visual supports. Four females with DS, ages 10 through 15 years, participated in this multiple baseline across participants single-subject…

  6. Premature aging of cardiovascular/platelet function in polycystic ovarian syndrome.

    Chan, Wai Ping A; Ngo, Doan T; Sverdlov, Aaron L; Rajendran, Sharmalar; Stafford, Irene; Heresztyn, Tamila; Chirkov, Yuliy Y; Horowitz, John D

    2013-07-01

    The objective of this study was to compare the impact of aging on nitric oxide (NO) modulation of platelet and vascular function in healthy women and women with polycystic ovary syndrome. A case-control study of women ages 18 to 60 years, comparing women with polycystic ovarian syndrome against age-matched healthy controls, was performed. A total of 242 women, of whom 109 had polycystic ovarian syndrome (based on Rotterdam criteria), participated in the study. Women who were pregnant or on clopidogrel were excluded from the study. Inhibition of platelet aggregation by nitric oxide (primary outcome measure), vascular endothelial function, plasma concentrations of N(G), N(G)-dimethyl-L-arginine (ADMA), endothelial progenitor cell count, and high-sensitivity C-reactive protein (markers of endothelial dysfunction and inflammation) were assessed. With increasing age in control women, there was progressive attenuation of platelet responses to NO, impairment of endothelial function, and elevation of ADMA levels (P ≤.001). Irrespective of age, women with polycystic ovarian syndrome exhibited greater impairment of all these parameters (all P polycystic ovarian syndrome, these changes are present from early adult life and may contribute to premature atherogenesis. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Paternal inheritance in mealybugs (Hemiptera: Coccoidea: Pseudococcidae)

    Kol-Maimon, Hofit; Mendel, Zvi; Franco, José Carlos; Ghanim, Murad

    2014-10-01

    Mealybugs have a haplodiploid reproduction system, with paternal genome elimination (PGE); the males are diploid soon after fertilization, but during embryogenesis, the male paternal set of chromosomes becomes heterochromatic (HC) and therefore inactive. Previous studies have suggested that paternal genes can be passed on from mealybug males to their sons, but not necessarily by any son, to the next generation. We employed crosses between two mealybug species— Planococcus ficus (Signoret) and Planococcus citri (Risso)—and between two populations of P. ficus, which differ in their mode of pheromone attraction, in order to demonstrate paternal inheritance from males to F2 through F1 male hybrids. Two traits were monitored through three generations: mode of male pheromone attraction (pherotype) and sequences of the internal transcribed spacer 2 (ITS2) gene segment (genotype). Our results demonstrate that paternal inheritance in mealybugs can occur from males to their F2 offspring, through F1 males (paternal line). F2 backcrossed hybrid males expressed paternal pherotypes and ITS2 genotypes although their mother originated through a maternal population. Further results revealed other, hitherto unknown, aspects of inheritance in mealybugs, such as that hybridization between the two species caused absence of paternal traits in F2 hybrid females produced by F1 hybrid females. Furthermore, hybridization between the two species raised the question of whether unattracted males have any role in the interactions between P. ficus and P. citri.

  8. [Forensic hematology genetics--paternity testing].

    Kratzer, A; Bär, W

    1997-05-01

    In Switzerland paternity investigations are carried out using DNA analysis only since 1991. DNA patterns are inherited and only with the exception of genetically identical twins they are different in everyone and therefore unique to an individual. Hence DNA-systems are an excellent tool to resolve paternity disputes. DNA polymorphisms used for paternity diagnosis are length polymorphisms of the highly polymorphic VNTR loci [variable number of tandem repeats]. The most frequently applied systems are the DNA single locus systems. In addition to the DNA single locus systems the application of PCR (PCR = polymerase chain reaction) based DNA systems has increased particularly in difficult deficiency cases or in cases where only small evidential samples or partially degraded DNA are available. Normally four independent DNA single probes are used to produce a DNA profile from the mother, the child and the alleged father. A child inherits half the DNA patterns from its mother and the other half from its true biological father. If an alleged father doesn't possess the paternal specific DNA pattern in his DNA profile he is excluded from the paternity. In case of non-exclusion the probability for paternity is calculated according to Essen-Möller. When applying four highly polymorphic DNA single locus systems the biostatistical evaluation leads always to W-values exceeding 99.8% [= required value for positive proof of paternity]. DNA analysis is currently the best available method to achieve such effective conclusions in paternity investigations.

  9. Signaling pathway activation drift during aging: Hutchinson-Gilford Progeria Syndrome fibroblasts are comparable to normal middle-age and old-age cells.

    Aliper, Alexander M; Csoka, Antonei Benjamin; Buzdin, Anton; Jetka, Tomasz; Roumiantsev, Sergey; Moskalev, Alexy; Zhavoronkov, Alex

    2015-01-01

    For the past several decades, research in understanding the molecular basis of human aging has progressed significantly with the analysis of premature aging syndromes. Progerin, an altered form of lamin A, has been identified as the cause of premature aging in Hutchinson-Gilford Progeria Syndrome (HGPS), and may be a contributing causative factor in normal aging. However, the question of whether HGPS actually recapitulates the normal aging process at the cellular and organismal level, or simply mimics the aging phenotype is widely debated. In the present study we analyzed publicly available microarray datasets for fibroblasts undergoing cellular aging in culture, as well as fibroblasts derived from young, middle-age, and old-age individuals, and patients with HGPS. Using GeroScope pathway analysis and drug discovery platform we analyzed the activation states of 65 major cellular signaling pathways. Our analysis reveals that signaling pathway activation states in cells derived from chronologically young patients with HGPS strongly resemble cells taken from normal middle-aged and old individuals. This clearly indicates that HGPS may truly represent accelerated aging, rather than being just a simulacrum. Our data also points to potential pathways that could be targeted to develop drugs and drug combinations for both HGPS and normal aging.

  10. Paternal masculinities in early fatherhood: dominant and counter narratives by Finnish first-time fathers

    Eerola, Petteri; Mykkänen, Johanna

    2013-01-01

    In this article, we seek to extend understanding of the role of gender in early fatherhood by examining narratives of paternal masculinities, that is, the social and cultural constructions of gendered practices and conventions produced by men on their roles as male parents. The data comprised interviews with 44 Finnish first-time fathers (aged 20-42 years) living in a heterosexual relationship. The narrative of the “decent father,” was identified as the dominant narrative of paternal masculin...

  11. Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort.

    Feinberg, Jason I; Bakulski, Kelly M; Jaffe, Andrew E; Tryggvadottir, Rakel; Brown, Shannon C; Goldman, Lynn R; Croen, Lisa A; Hertz-Picciotto, Irva; Newschaffer, Craig J; Fallin, M Daniele; Feinberg, Andrew P

    2015-08-01

    Epigenetic mechanisms such as altered DNA methylation have been suggested to play a role in autism, beginning with the classical association of Prader-Willi syndrome, an imprinting disorder, with autistic features. Here we tested for the relationship of paternal sperm DNA methylation with autism risk in offspring, examining an enriched-risk cohort of fathers of autistic children. We examined genome-wide DNA methylation (DNAm) in paternal semen biosamples obtained from an autism spectrum disorder (ASD) enriched-risk pregnancy cohort, the Early Autism Risk Longitudinal Investigation (EARLI) cohort, to estimate associations between sperm DNAm and prospective ASD development, using a 12-month ASD symptoms assessment, the Autism Observation Scale for Infants (AOSI). We analysed methylation data from 44 sperm samples run on the CHARM 3.0 array, which contains over 4 million probes (over 7 million CpG sites), including 30 samples also run on the Illumina Infinium HumanMethylation450 (450K) BeadChip platform (∼485 000 CpG sites). We also examined associated regions in an independent sample of post-mortem human brain ASD and control samples for which Illumina 450K DNA methylation data were available. Using region-based statistical approaches, we identified 193 differentially methylated regions (DMRs) in paternal sperm with a family-wise empirical P-value [family-wise error rate (FWER)] Autism Observational Scale for Infants (AOSI) at 12 months of age in offspring. The DMRs clustered near genes involved in developmental processes, including many genes in the SNORD family, within the Prader-Willi syndrome gene cluster. These results were consistent among the 75 probes on the Illumina 450K array that cover AOSI-associated DMRs from CHARM. Further, 18 of 75 (24%) 450K array probes showed consistent differences in the cerebellums of autistic individuals compared with controls. These data suggest that epigenetic differences in paternal sperm may contribute to autism risk in

  12. Paternal Stimulation and Early Child Development in Low- and Middle-Income Countries.

    Jeong, Joshua; McCoy, Dana Charles; Yousafzai, Aisha K; Salhi, Carmel; Fink, Günther

    2016-10-01

    Few studies have examined the relationship between paternal stimulation and children's growth and development, particularly in low- and middle-income countries (LMICs). This study aimed to estimate the prevalence of paternal stimulation and to assess whether paternal stimulation was associated with early child growth and development. Data from the Multiple Indicator Cluster Surveys rounds 4 and 5 were combined across 38 LMICs. The sample comprised 87 286 children aged 3 and 4 years. Paternal stimulation was measured by the number of play and learning activities (up to 6) a father engaged in with his child over the past 3 days. Linear regression models were used to estimate standardized mean differences in height-for-age z-scores and Early Childhood Development Index (ECDI) z-scores across 3 levels of paternal stimulation, after controlling for other caregivers' stimulation and demographic covariates. A total of 47.8% of fathers did not engage in any stimulation activities, whereas 6.4% of fathers engaged in 5 or 6 stimulation activities. Children whose fathers were moderately engaged in stimulation (1-4 activities) showed ECDI scores that were 0.09 SD (95% confidence interval [CI]: -0.12 to -0.06) lower than children whose fathers were highly engaged; children whose fathers were unengaged showed ECDI scores that were 0.14 SD lower (95% CI: -0.17 to -0.12). Neither moderate paternal stimulation nor lack of paternal stimulation was associated with height-for-age z-scores, relative to high stimulation. Increasing paternal engagement in stimulation is likely to improve early child development in LMICs. Copyright © 2016 by the American Academy of Pediatrics.

  13. Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

    Rivolta, Carlo; Berson, Eliot L; Dryja, Thaddeus P

    2002-11-01

    To evaluate a form of nonmendelian inheritance in a patient with retinitis pigmentosa (RP). Direct DNA sequencing of the USH2A coding region and microsatellite analysis of polymorphic markers from chromosome 1 and other chromosomes. A patient with RP without hearing loss caused by the homozygous mutation Cys759Phe in the USH2A gene on chromosome 1q was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change. Further evaluation with microsatellite markers revealed that the patient had inherited 2 copies of chromosome 1 from her father and none from her mother. The paternally derived chromosome 1's were heteroallelic from the centromere of chromosome 1 to the proximal short and long arms. The distal regions of the short and long arms of chromosome 1 were homoallelic, including the region of 1q with the mutant USH2A allele. This genetic pattern is compatible with a phenomenon of uniparental primary heterodisomy with regions of homozygosity arising through a nondisjunction event during paternal meiosis I and subsequent trisomy rescue or gamete complementation. A paternal second cousin of the patient also had RP and also had an identical heterozygous mutation in the USH2A gene in the same codon. However, the analysis of an isocoding polymorphism 20 base pairs away and closely linked microsatellite markers in the patient and family members indicated that the 2 mutant alleles are unlikely to be identical by descent and that the 2 relatives fortuitously had RP and a mutation in the same codon of the USH2A gene. This family illustrates that recessive RP without hearing loss can rarely be inherited from only 1 unaffected carrier parent in a nonmendelian manner. The genetic counseling of families with recessively inherited eye diseases must take into consideration the possibility that an unaffected heterozygous carrier can have an affected offspring homozygous for the same mutation, even if the carrier's spouse has wild-type alleles

  14. Public Service Motivation and Paternalism

    Holm Pedersen, Lene; Qvistgaard, Lars

    holds a potential to improve public service provision (Belle, 2013, Andersen et al., 2014), it also has dark sides (Van Loon et al., 2015, forthcoming). The aim of this paper is to analyze and discuss how one type of public service motivated individuals (paternalistic knights) and constitute a problem...... of democratic accountability. The setting of this discussion is unusual for the PSM literature, and takes PSM into the analysis and discussion of motivation and paternalism in trade unions. This setting is relevant and interesting as the election of representatives is based on elections, and hence trade unions...... variables are two dimensions of the PSM construct; namely self-sacrifice and commitment to the public interest, whereas the central independent variable is paternalistic orientation. All three variables are measured with survey constructs in a cross sectional survey design. The survey is made among...

  15. Walking in old age and development of metabolic syndrome : the health, aging, and body composition study

    Peterson, Matthew J; Morey, Miriam C; Giuliani, Carol; Pieper, Carl F; Evenson, Kelly R; Mercer, Vicki; Visser, Marjolein; Brach, Jennifer S; Kritchevsky, Stephen B; Goodpaster, Bret H; Rubin, Susan; Satterfield, Suzanne; Simonsick, Eleanor M

    BACKGROUND: The specific health benefits of meeting physical activity guidelines are unclear in older adults. We examined the association between meeting, not meeting, or change in status of meeting physical activity guidelines through walking and the 5-year incidence of metabolic syndrome in older

  16. The association between perceived maternal and paternal psychopathology and depression and anxiety symptoms in adolescent girls

    Rasing, Sanne P. A.; Creemers, Daan H. M.; Janssens, Jan M. A. M.; Scholte, Ron H. J.

    2015-01-01

    Exposure to parental depression and anxiety is known to heighten the risk of internalizing symptoms and disorders in children and adolescents. Ample research has focused on the influence of maternal depression and anxiety, but the contribution of psychopathology in fathers remains unclear. We studied the relationships of perceived maternal and paternal psychopathology with adolescents’ depression and anxiety symptoms in a general population sample of 862 adolescent girls (age M = 12.39, SD = 0.79). Assessments included adolescents’ self-reports of their own depression and anxiety as well as their reports of maternal and paternal psychopathology. We found that perceived maternal and paternal psychopathology were both related to depression and anxiety symptoms in adolescent girls. A combination of higher maternal and paternal psychopathology was related to even higher levels of depression and anxiety in adolescent girls. Our findings showed that adolescents’ perceptions of their parents’ psychopathology are significantly related to their own emotional problems. PMID:26257664

  17. The Importance of Sleep: Attentional Problems in School-Aged Children With Down Syndrome and Williams Syndrome.

    Ashworth, Anna; Hill, Catherine M; Karmiloff-Smith, Annette; Dimitriou, Dagmara

    2015-01-01

    In typically developing (TD) children, sleep problems have been associated with day-time attentional difficulties. Children with developmental disabilities often suffer with sleep and attention problems, yet their relationship is poorly understood. The present study investigated this association in school-aged children with Down syndrome (DS) and Williams syndrome (WS). Actigraphy and pulse oximetry assessed sleep and sleep-disordered breathing respectively, and attention was tested using a novel visual Continuous Performance Task (CPT).Attentional deficits were evident in both disorder groups. In the TD group, higher scores on the CPT were related to better sleep quality, higher oxyhemoglobin saturation (SpO2), and fewer desaturation events. Sleep quality, duration, and SpO2 variables were not related to CPT performance for children with DS and WS.

  18. Association of Family Composition and Metabolic Syndrome in Korean Adults Aged over 45 Years Old.

    Kim, Young-Ju

    2015-12-01

    This study investigated the relationship between family composition and the prevalence of metabolic syndrome by gender in Korean adults aged 45 years and older. The sample consisted of 11,291 participants in the Korea National Health and Nutrition Examination Survey from 2010 to 2012. We used complex sample analyses, including strata, cluster, and sample weighting, to allow generalization to the Korean population. Complex samples crosstabs and chi-square tests were conducted to compare the percentage of sociodemographic characteristics to the prevalence of metabolic syndrome and its components by gender and family composition. Next, a complex sample logistic regression was performed to examine the association between family composition and the prevalence of metabolic syndrome by gender. The percentage of adults living alone was 5.6% for men and 13.9% for women. Slightly more women (14.0%) than men (10.1%) reported living with three generations. The percentage of metabolic syndrome in Korean adults aged 45 years and older was 53.2% for men and 35.7% for women. For women, we found that living with one or three generations was significantly associated with a higher risk of metabolic syndrome, blood pressure, and triglyceride abnormality after adjusting for age, education, household income, smoking, physical activity, and body mass index, when compared to living alone. No significant relationships were found for men. A national strategy, tailored on gender and family composition, needs to be developed in order to prevent the increase of metabolic syndrome in Korean women over middle age. Copyright © 2015. Published by Elsevier B.V.

  19. Relationship between rectus abdominis muscle thickness and metabolic syndrome in middle-aged men.

    Eun Sil Choi

    Full Text Available Skeletal muscle has been suggested as an important factor in the pathophysiology of metabolic syndrome. During the aging process, muscle mass is lost in specific body parts. However, few studies have investigated the relationship between site-specific muscle loss assessed using computed tomography (CT and metabolic syndrome. This study was conducted to investigate the association between metabolic syndrome and rectus abdominis muscle thickness at the umbilicus level (RAM, which reflects site-specific muscle loss of the abdomen using CT image.This cross-sectional study was conducted on 725 middle-aged Korean men. Anthropometric evaluation and biochemical tests were performed. The RAMs of the subjects were measured from CT images taken at the umbilicus level.The mean RAM (mean ±SD of subjects with metabolic syndrome was 2.46 ±0.01, which was thinner than that of subjects without metabolic syndrome (2.52 ±0.01, p<0.01. Moreover, RAM decreased as the number of metabolic syndrome components increased (p-value for trend<0.01. RAM was positively correlated with body mass index (r = 0.21, p<0.01, skeletal muscle index (r = 0.26, p<0.01, and creatinine (r = 0.12, p<0.01, while RAM was negatively correlated with age(r = -0.11, p<0.01, abdominal circumference(r = -0.22, p<0.01, fasting glucose (r = -0.10, p<0.01, and triglycerides(r = -0.15, p<0.01. Using a stepwise multiple logistic regression analysis, we found that RAM was an independent factor associated with metabolic syndrome (OR: 0.861, 95%CI, 0.779-0.951, p<0.01. The result was not different in the statistical analysis including the components of MS (OR: 0.860, 95% CI, 0.767-0.965, p = 0.01.RAM was associated with metabolic syndrome in middle-aged men. Moreover, site-specific muscle loss at the abdomen, as evaluated by RAM, also may be a predictor of metabolic syndrome like SMI.

  20. Sick building syndrome: A disease of modern age

    Nikić Dragana

    2004-01-01

    Full Text Available Sick building syndrome (SBS is a term used to describe situation in building when more than 30% of occupants suffer from various symptoms which tend to increase by severity during the time people spend in "sick" building and disappear when they leave the building. Typical cases of SBS report vague symptoms, which cannot be objectively measured, and sufferers usually show no clinical signs of illness. Symptom heterogeneity suggests that they do not represent a single disorder. The objective of our study was to establish if SBS is present in our town because new buildings have been built lately producing the artificial environment - exclusively artificial lightning and mechanical ventilation. A total of 812 subjects were included in our study. The investigation of SBS was performed by standardized questionnaires to determine the prevalence of symptoms and complaints. Questionnaires were used to collect data on perception of environment conditions and health during the period they work in this building. The subjects were divided in three groups according to sex, level of education and ownership. Our data suggested that the incidence of symptoms was higher in employers than in owners of the offices. Moreover, the prevalence of SBS was very high - up to 74.76%. It is obvious that certain physical, psychological and organizational factors are involved in the incidence of symptoms, but our investigation suggests that physical factor has a dominant role in development of symptoms, particularly low humidity and low air flow. In addition, our judgment is that SBS exists in our city, probably in the whole country and, therefore, it must be investigated properly.

  1. Recall Memory in Children with Down Syndrome and Typically Developing Peers Matched on Developmental Age

    Milojevich, H.; Lukowski, A.

    2016-01-01

    Background: Whereas research has indicated that children with Down syndrome (DS) imitate demonstrated actions over short delays, it is presently unknown whether children with DS recall information over lengthy delays at levels comparable with typically developing (TD) children matched on developmental age. Method: In the present research, 10…

  2. Ageing and Dementia in a Longitudinal Study of a Cohort with Down Syndrome

    Carr, Janet; Collins, Suzanne

    2014-01-01

    Background: A population sample of people with Down syndrome has been studied from infancy and has now been followed up again at age 47 years. Methods: Intelligence and language skills were tested and daily living skills assessed. Memory/cognitive deterioration was examined using two test instruments. Results: Scores on verbal tests of…

  3. A Spoken-Language Intervention for School-Aged Boys with Fragile X Syndrome

    McDuffie, Andrea; Machalicek, Wendy; Bullard, Lauren; Nelson, Sarah; Mello, Melissa; Tempero-Feigles, Robyn; Castignetti, Nancy; Abbeduto, Leonard

    2016-01-01

    Using a single case design, a parent-mediated spoken-language intervention was delivered to three mothers and their school-aged sons with fragile X syndrome, the leading inherited cause of intellectual disability. The intervention was embedded in the context of shared storytelling using wordless picture books and targeted three empirically derived…

  4. Ghrelin Gene Variants Influence on Metabolic Syndrome Components in Aged Spanish Population

    Mora, Mireia; Adam, Victoria; Palomera, Elisabet; Blesa, Sebastian; Díaz, Gonzalo; Buquet, Xavier; Serra-Prat, Mateu; Martín-Escudero, Juan Carlos; Palanca, Ana; Chaves, Javier Felipe; Puig-Domingo, Manuel

    2015-01-01

    BACKGROUND: The role of genetic variations within the ghrelin gene on cardiometabolic profile and nutritional status is still not clear in humans, particularly in elderly people. OBJECTIVES: We investigated six SNPs of the ghrelin gene and their relationship with metabolic syndrome (MS) components. SUBJECTS AND METHODS: 824 subjects (413 men/411 women, age 77.31±5.04) participating in the Mataró aging study (n = 310) and the Hortega study (n = 514) were analyzed. Anthropometric variables, ghr...

  5. Polycystic Ovary Syndrome: Important Underrecognised Cardiometabolic Risk Factor in Reproductive-Age Women

    Baldani, Dinka Pavicic; Skrgatic, Lana; Ougouag, Roya

    2015-01-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disorder amongst women of reproductive age. Although PCOS is diagnosed exclusively based on reproductive criteria, it is also a metabolic disorder. Insulin resistance, impaired glucose tolerance, type 2 diabetes mellitus, obesity, and dyslipidemia are more common in women with PCOS than in age-comparable women without PCOS. Many of the metabolic abnormalities that manifest in PCOS are worsened by the concurrent incidence of obesity...

  6. A Study of the Effect of Age of Onset of Treatment on the Observed Development of Down's Syndrome Babies.

    Sanz, M. T.; Menendez, J.

    1996-01-01

    Studied how early treatment affected the development of a sample of 30 Down syndrome babies incorporated into the study at different ages. Found that development quotients descended significantly at 18 months of age as the period in treatment shortened. (AJH)

  7. Adolescent obesity and maternal and paternal sensitivity and monitoring.

    Neal Davis, R; Ashba, Jacqueline; Appugliese, Danielle P; Kaciroti, Niko; Corwyn, Robert F; Bradley, Robert H; Lumeng, Julie C

    2011-06-01

    To determine if adolescent obesity is associated with parenting characterized by lower sensitivity and lower monitoring of adolescent activities. We used data from 744 adolescents in the National Institute of Child Health and Human Development Study of Early Child Care and Youth Development. Height and weight were measured at age 15½ years and obesity defined as body mass index ≥ 95th percentile for age and sex. Maternal and paternal sensitivity were assessed by direct observation of a parent-adolescent interaction task. Maternal and paternal monitoring were assessed by parent report. Lower sensitivity and lower monitoring were each defined as the lowest quartiles. Two separate multivariate logistic regression models were created to evaluate, individually for mothers and fathers, associations of sensitivity and monitoring with adolescent obesity, controlling for adolescent sex and race, family income-to-needs ratio, and parental obesity. Fourteen percent of the adolescents were obese. Lower sensitivity was associated with adolescent obesity in the maternal parenting model (adjusted odds ratio [AOR] 2.36, 95% confidence interval [CI] 1.44-3.86, n = 709), but not paternal parenting model (AOR = 0.79, 95% CI 0.38-1.63, n = 460). Neither maternal nor paternal monitoring was associated with adolescent obesity (AOR = 1.03, 95% CI 0.63-1.68; AOR = 1.07, 95% CI 0.52-2.22, respectively). Lower maternal sensitivity, measured by direct observation of parent-adolescent interactions, was associated with adolescent obesity. Efforts to prevent and treat childhood obesity, both at the practitioner level and the community level, may be enhanced by educating parents that their reactions to their children's behaviors may have consequences related to obesity.

  8. Association between Elder Abuse and Metabolic Syndromes: Findings from the Chicago Health and Aging Project.

    Dong, XinQi; Simon, Melissa

    2015-01-01

    Elder abuse and metabolic syndromes are both important public health issues and are associated with increased morbidity and mortality. This study aimed to examine the associations between elder abuse and risk for metabolic syndromes. The Chicago Health and Aging Project (CHAP) cohort is a population-based study (n = 4,586). We identified 676 participants with some form of elder abuse reported to a social services agency. The primary independent variable was elder abuse reported to a social services agency. Outcomes were metabolic syndrome as categorized by World Health Organization (WHO), American Heart Association (AHA) and International Diabetes Federation (IDF) criteria. Bivariate and logistic regression analyses were used to assess the association between elder abuse and different definitions of metabolic syndromes. In the bivariate analyses, elder abuse victims were more likely than those without elder abuse to have metabolic syndromes [22.4 vs. 10.7% (WHO), 50.7 vs. 40.0% (AHA) and 47.7 vs. 33.5% (IDF)]. After adjusting for potential confounding factors, elder abuse was associated with an increased risk for metabolic syndromes according to WHO [OR, 3.95 (2.86-5.47)], AHA [OR, 2.03 (1.56-2.64)] and IDF [OR, 2.55 (1.97-3.29)] criteria. Interaction term analyses indicate that the association between elder abuse and metabolic syndromes may be moderated by sociodemographic characteristics but not by health-related or psychosocial factors. Elder abuse is associated with an increased risk for metabolic syndromes. Research is needed to examine the association between elder abuse and cardiovascular disease.

  9. Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance.

    Reid, Donna; Moss, Jo; Nelson, Lisa; Groves, Laura; Oliver, Chris

    2017-08-15

    The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests. Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS. The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important.

  10. Role for Genetic Anticipation in Lynch Syndrome

    Nilbert, Mef; Timshel, Susanne; Bernstein, Inge

    2009-01-01

    PURPOSE: Anticipation (ie, an earlier age at onset in successive generations) is linked to repeat expansion in neurodegenerative syndromes, whereas its role in hereditary cancer is unclear. We assessed anticipation in Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), in which DNA...... mismatch repair (MMR) defects cause early and accelerated tumor development with a broad tumor spectrum. PATIENTS AND METHODS: In the population-based Danish HNPCC registry, 407 MMR gene mutation carriers who had developed cancer associated with Lynch syndrome, were identified. These individuals formed 290....... The effect remained when cancers diagnosed at surveillance were excluded, applied to maternal as well as paternal inheritance, and was independent of the MMR gene mutated. CONCLUSION: The effect from anticipation demonstrated in this large, population-based Lynch syndrome cohort underscores the need...

  11. Effect of the Aged Garlic Extract on Cardiovascular Function in Metabolic Syndrome Rats

    Israel Pérez-Torres

    2016-10-01

    Full Text Available The antioxidant properties of aged garlic extract (AGE on cardiovascular functioning (CF in metabolic syndrome (MS remains poorly studied. Here we study the AGE effects on CF in a rat model of MS. Control rats plus saline solution (C + SS, MS rats (30% sucrose in drinking water from weaning plus saline solution (MS + SS, control rats receiving AGE (C + AGE 125 mg/Kg/12 h and MS rats with AGE (MS + AGE were studied. MS + SS had increased triglycerides, systolic blood pressure, insulin, leptin, HOMA index, and advanced glycation end products. AGE returned their levels to control values (p < 0.01. Cholesterol was decreased by AGE (p = 0.05. Glutathion and GPx activity were reduced in MS + SS rats and increased with AGE (p = 0.05. Lipid peroxidation was increased in MS + SS and AGE reduced it (p = 0.001. Vascular functioning was deteriorated by MS (increased vasocontraction and reduced vasodilation and AGE improved it (p = 0.001. Coronary vascular resistance was increased in MS rats and AGE decreased it (p = 0.001. Cardiac performance was not modified by MS but AGE increased it. NO measured in the perfusate liquid from the heart and serum citrulline, nitrites/nitrates were decreased in MS and AGE increased them (p < 0.01. In conclusion, AGE reduces MS-induced cardiovascular risk, through its anti-oxidant properties.

  12. COMPUTER EYE SYNDROME IN CHILDREN AGED 3 TO 6 YEARS

    Krasina P. Valcheva

    2016-03-01

    Full Text Available Purpose: To detect visual disturbances, major symptoms and relationship between them in children between the ages of 3 and 6 years, who spend some time in front of a computer. Material/Methods: In the present study 2823 children attending 23 kindergartens in the city of Pleven, were given inquiry cards. Those with completed questionnaires were examined for visual acuity and convergence. In cases with low vision the children were invited for a detailed eye examination in the Eye Clinic at the University Hospital "Dr George Stranski" - Pleven. Results: A total of 2332 children responded and were examined (1174 girls and 1158 boys. The age of children is from 3 to 6 years. We found 303 children with subjective complaints in a close work, 163 with low vision and 18 with impaired convergence. Regarding the duration of stay in front of a computer – 159 children stay over 3 hours a day in front of video display, 1228 children spend about 1 hour a day in front of a computer and 945 children do not play on a computer. Conclusion: Nowadays more and more children use computers for recreational purposes at home. From our study it became clear that preschool children overuse their stay in front of computer.

  13. Paternity leave experiences of NHS doctors.

    Gordon, Hannah; Szram, Joanna

    2013-10-01

    This study assesses NHS doctors' experiences of paternity leave and evaluates whether practices have changed since the introduction of additional paternity leave (APL) in April 2011. An anonymised online survey designed to discover experiences and uptake of APL and ordinary paternity leave (OPL) was distributed to all members of the London Deanery Synapse® network. In total, 364 fathers responded. Their seniority ranged from foundation trainees to consultants. Following the formal introduction of OPL in 2003, the number of fathers taking any paternity leave increased (from 50% to 95.6%). The majority of respondents (76.7%) felt well supported by their employer. Since the introduction of APL, 3% of respondents took additional leave. Reasons for the low uptake of APL included the impracticalities of the law, poor awareness and perceived attitudes and implications for training. Problems with OPL included the inadequate provision of cover and difficulties in timing the leave appropriately.

  14. ISFG: Recommendations on biostatistics in paternity testing

    Gjertson, David W; Brenner, Charles H; Baur, Max P

    2007-01-01

    The Paternity Testing Commission (PTC) of the International Society for Forensic Genetics has taken up the task of establishing the biostatistical recommendations in accordance with the ISO 17025 standards and a previous set of ISFG recommendations specific to the genetic investigations...... in paternity cases. In the initial set, the PTC recommended that biostatistical evaluations of paternity are based on a likelihood ratio principle - yielding the paternity index, PI. Here, we have made five supplementary biostatistical recommendations. The first recommendation clarifies and defines basic...... concepts of genetic hypotheses and calculation concerns needed to produce valid PIs. The second and third recommendations address issues associated with population genetics (allele probabilities, Y-chromosome markers, mtDNA, and population substructuring) and special circumstances (deficiency...

  15. Avian paternal care had dinosaur origin.

    Varricchio, David J; Moore, Jason R; Erickson, Gregory M; Norell, Mark A; Jackson, Frankie D; Borkowski, John J

    2008-12-19

    The repeated discovery of adult dinosaurs in close association with egg clutches leads to speculation over the type and extent of care exhibited by these extinct animals for their eggs and young. To assess parental care in Cretaceous troodontid and oviraptorid dinosaurs, we examined clutch volume and the bone histology of brooding adults. In comparison to four archosaur care regressions, the relatively large clutch volumes of Troodon, Oviraptor, and Citipati scale most closely with a bird-paternal care model. Clutch-associated adults lack the maternal and reproductively associated histologic features common to extant archosaurs. Large clutch volumes and a suite of reproductive features shared only with birds favor paternal care, possibly within a polygamous mating system. Paternal care in both troodontids and oviraptorids indicates that this care system evolved before the emergence of birds and represents birds' ancestral condition. In extant birds and over most adult sizes, paternal and biparental care correspond to the largest and smallest relative clutch volumes, respectively.

  16. Metabolic syndrome and dementia associated with Parkinson's disease: impact of age and hypertension

    Arthur Oscar Schelp

    2012-02-01

    Full Text Available OBJECTIVE: To determine correlations between age and metabolic disorders in Parkinson's disease (PD patients. METHODS: This observational cross-sectional study included brief tests for dementia and the Mattis test. Signals of metabolic syndrome were evaluated. RESULTS: There was no significant effect from the presence of hypertension (OR=2.36 for patients under 65 years old and OR=0.64 for patients over 65, diabetes or hypercholesterolemia regarding occurrences of dementia associated with PD (24% of the patients. The study demonstrated that each year of age increased the estimated risk of dementia in PD patients by 9% (OR=1.09; 95%CI: 1.01-1.17. CONCLUSION: There was no evidence to correlate the presence of metabolic syndrome with the risk of dementia that was associated with PD. The study confirmed that dementia in PD is age dependent and not related to disease duration.

  17. Cardiovascular risk factors: Is the metabolic syndrome related to aging? Epidemiology in a Portuguese population.

    Ribeiro, Armindo Sousa; Seixas, Rui; Gálvez, Juan Manuel; Climent, Vicente

    2018-05-16

    The primary objective of our study is to determine the prevalence of the metabolic syndrome in the population. The secondary objective is to determine the prevalence of cardiovascular risk factors, anthropometric alterations and the prevalence of target organ damage and their relationship with aging. The sample for the study was obtained by means of a consecutive population-based demonstration in 803 adults over 18 years of age belonging to the labor force of the company Grupo Delta SA. The study was carried out according to the guidelines of the Declaration of Helsinki. The individuals included in the study voluntarily participated, once informed of the purpose of the study, giving their prior verbal consent, to the company's human resources department, in the case of Delta Group workers. 23.8% of the population has metabolic syndrome more prevalent in males, no smoking, no significant alcohol consumption, sedentary, with a high Body mass index (BMI). Its prevalence increases with age. We found that the prevalence of metabolic syndrome increases with age and is present in people of working age, increasing the risk of cardiovascular diseases, work-related absences, and socio-economic costs. Copyright © 2018 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  18. Libertarian Paternalism Is Not an Oxymoron

    Sunstein, Cass Robert

    2003-01-01

    The idea of libertarian paternalism might seem to be an oxymoron, but it is both possible and legitimate for private and public institutions to affect behavior while also respecting freedom of choice. Often people’s preferences are ill-formed, and their choices will inevitably be influenced by default rules, framing effects, and starting points. In these circumstances, a form of paternalism cannot be avoided. Equipped with an understanding of behavioral findings of bounded rationality and bou...

  19. The influence of cholecystectomy at young age on the course of metabolic syndrome in women

    O. V. Lebedeva

    2017-01-01

    Full Text Available Rationale:  At present, the  metabolic  syndrome and  pathophysiology  of non-alcoholic  fatty  liver disease, as well as identification of factors that may  influence  the  rate  of development of dystrophy and fibrosis in the liver are in the focus of investigators'  attention. This study represents an attempt to  detail  metabolic  derangements and liver tissue  abnormalities  after  cholecystectomy in patients  with metabolic  syndrome  at baseline.Aim: To study  the  influence  of cholecystectomy performed  at younger  age on the course of metabolic syndrome in women.Materials and methods: This was a retrospective analytical study  in a sample  of 57 female  patients  with  metabolic syndrome (International Diabetes Federation criteria 2005 aged  from 18 to 44 years (young age according  to the World Health Organization definition. From those, 30 patients  with cholelithiasis were included  into the control group  and 27 patients  who  had  undergone  cholecystectomy in this age range were included into the comparison group. We analyzed  their past  history, results  of clinical examination, laboratory  tests, abdominal ultrasound  examination, esophagogastroduodenoscopy, hydrogen  respiration  test  with lactulose, as well as the results of needle  liver biopsy.Results: Non-alcoholic steatohepatitis after cholecystectomy was associated with the excessive bacterial growth  in the small intestine  (р = 0.026, ultrasound signs of cholangitis (р = 0.041, and diarrhea syndrome (р = 0.027. Liver fibrosis was significantly more frequent in association with chronic diarrhea  (р = 0.034  and  past  clinical signs  of post-cholecystectomy syndrome (р = 0.044. There was a strong direct correlation between the grade of fibrosis and  the  time  since  cholecystectomy (r = 0.77; р = 0.047.Conclusion: Cholecystectomy performed  at young  age predicts  progression  of metabolic

  20. Chinese Preschool Children’s Socioemotional Development: The Effects of Maternal and Paternal Psychological Control

    Shufen Xing

    2017-10-01

    Full Text Available The present study examined the relative prediction and joint effects of maternal and paternal psychological control on children’s socioemotional development. A total of 325 preschool children between the ages of 34 and 57 months (M = 4 years 2 months and their parents participated in the study. Fathers and mothers, respectively, reported their levels of psychological control and mothers evaluated the socioemotional development of children using two indicators (i.e., behavioral problems and prosocial behaviors. The results indicated that the relative predictive effects of maternal and paternal psychological control on children’s socioemotional development differed. Specifically, maternal psychological control was a significant predictor of children’s behavioral problems and prosocial behaviors, whereas the levels of paternal psychological control were unrelated to children’s socioemotional development. With regard to the combined effects of maternal and paternal psychological control, the results of ANOVAs and simple slope analysis both indicated that children would be at risk of behavioral problems as long as they had one highly psychologically controlling parent. High levels of paternal psychological control were associated with increased behavioral problems of children only when maternal psychological control was low. However, the association between maternal psychological control and children’s behavioral behaviors was significant, despite paternal psychological control.

  1. Aging stem cells. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging.

    Zhang, Weiqi; Li, Jingyi; Suzuki, Keiichiro; Qu, Jing; Wang, Ping; Zhou, Junzhi; Liu, Xiaomeng; Ren, Ruotong; Xu, Xiuling; Ocampo, Alejandro; Yuan, Tingting; Yang, Jiping; Li, Ying; Shi, Liang; Guan, Dee; Pan, Huize; Duan, Shunlei; Ding, Zhichao; Li, Mo; Yi, Fei; Bai, Ruijun; Wang, Yayu; Chen, Chang; Yang, Fuquan; Li, Xiaoyu; Wang, Zimei; Aizawa, Emi; Goebl, April; Soligalla, Rupa Devi; Reddy, Pradeep; Esteban, Concepcion Rodriguez; Tang, Fuchou; Liu, Guang-Hui; Belmonte, Juan Carlos Izpisua

    2015-06-05

    Werner syndrome (WS) is a premature aging disorder caused by WRN protein deficiency. Here, we report on the generation of a human WS model in human embryonic stem cells (ESCs). Differentiation of WRN-null ESCs to mesenchymal stem cells (MSCs) recapitulates features of premature cellular aging, a global loss of H3K9me3, and changes in heterochromatin architecture. We show that WRN associates with heterochromatin proteins SUV39H1 and HP1α and nuclear lamina-heterochromatin anchoring protein LAP2β. Targeted knock-in of catalytically inactive SUV39H1 in wild-type MSCs recapitulates accelerated cellular senescence, resembling WRN-deficient MSCs. Moreover, decrease in WRN and heterochromatin marks are detected in MSCs from older individuals. Our observations uncover a role for WRN in maintaining heterochromatin stability and highlight heterochromatin disorganization as a potential determinant of human aging. Copyright © 2015, American Association for the Advancement of Science.

  2. Multiple paternity in reptiles: patterns and processes.

    Uller, Tobias; Olsson, Mats

    2008-06-01

    The evolution of female promiscuity poses an intriguing problem as benefits of mating with multiple males often have to arise via indirect, genetic, effects. Studies on birds have documented that multiple paternity is common in natural populations but strong evidence for selection via female benefits is lacking. In an attempt to evaluate the evidence more broadly, we review studies of multiple paternity in natural populations of all major groups of nonavian reptiles. Multiple paternity has been documented in all species investigated so far and commonly exists in over 50% of clutches, with particularly high levels in snakes and lizards. Marine turtles and lizards with prolonged pair-bonding have relatively low levels of multiple paternity but levels are nevertheless higher than in many vertebrates with parental care. There is no evidence that high levels of polyandry are driven by direct benefits to females and the evidence that multiple paternity arises from indirect genetic benefits is weak. Instead, we argue that the most parsimonious explanation for patterns of multiple paternity is that it represents the combined effect of mate-encounter frequency and conflict over mating rates between males and females driven by large male benefits and relatively small female costs, with only weak selection via indirect benefits. A crucial step for researchers is to move from correlative approaches to experimental tests of assumptions and predictions of theory under natural settings, using a combination of molecular techniques and behavioural observations.

  3. The influence of age on posterior pelvic floor dysfunction in women with obstructed defecation syndrome.

    Murad-Regadas, S M; Rodrigues, L V; Furtado, D C; Regadas, F S P; Olivia da S Fernandes, G; Regadas Filho, F S P; Gondim, A C; de Paula Joca da Silva, R

    2012-06-01

    Knowledge of risk factors is particularly useful to prevent or manage pelvic floor dysfunction but although a number of such factors have been proposed, results remain inconsistent. The purpose of this study was to evaluate the impact of aging on the incidence of posterior pelvic floor disorders in women with obstructed defecation syndrome evaluated using echodefecography. A total of 334 patients with obstructed defecation were evaluated using echodefecography in order to quantify posterior pelvic floor dysfunction (rectocele, intussusception, mucosal prolapse, paradoxical contraction or non-relaxation of the puborectalis muscle, and grade III enterocele/sigmoidocele). Patients were grouped according to the age (Group I = patients up to 50 years of age; Group II = patients over 50 years of age) to evaluate the isolated and associated incidence of dysfunctions. To evaluate the relationship between dysfunction and age-related changes, patients were also stratified into decades. Group I included 196 patients and Group II included 138. The incidence of significant rectocele, intussusception, rectocele associated with intussusception, rectocele associated with mucosal prolapse and 3 associated disorders was higher in Group II, whereas anismus was more prevalent in Group I. The incidence of significant rectocele, intussusception, mucosal prolapse and grade III enterocele/sigmoidocele was found to increase with age. Conversely, anismus decreased with age. Aging was shown to influence the incidence of posterior pelvic floor disorders (rectocele, intussusception, mucosa prolapse and enterocele/sigmoidocele), but not the incidence of anismus, in women with obstructed defecation syndrome.

  4. INCIDENCE OF STUTTERING IN SCHOOL-AGE CHILDREN WITH DOWN SYNDROME

    Nevzeta SALIHOVIĆ

    2012-03-01

    Full Text Available The main purpose of this study was to examine the incidence (frequency and stuttering severity in the school-age children with Down syndrome. The sample was consisted of 37 school-age children with Down syndrome, both male and female. The study was conducted in the following institutions: Institute of Special Education and Rehabilitation for Children with Intellectual Disabilities "Mjedenica"; Centre for Education, Training and Employment of Mentally Retarded Children, Children with Autism and Cerebral palsy "Vladimir Nazor" in Sarajevo; Primary School of Special Education „Zenica“; Primary school "Kovačići" Sarajevo; "Association of United Civic Actions – DUGA" in Sarajevo; and The Association "Be my friend" in Ilijaš. All of the subjects were individually examined. The results showed that 13,51 % of the children with Down syndrome stuttered, and the total result of stuttering severity indicates a moderate stuttering. These results show that children with Down syndrome should be enrolled intensively in speech therapy in order to help them overcome their stuttering, to facilitate their everyday communication and to teach them how to cope with stuttering.

  5. Medial abrasion syndrome: a neglected cause of knee pain in middle and old age.

    Lyu, Shaw-Ruey; Lee, Ching-Chih; Hsu, Chia-Chen

    2015-04-01

    Knee pain is a prevailing health problem of middle and old age. Medial plica-related medial abrasion syndrome (MAS), although a well-known cause of knee pain in younger individuals, has rarely been investigated in older individuals. This prospective study was conducted to investigate the prevalence and clinical manifestations of this syndrome as a cause of knee pain in middle and old age. The outcomes of arthroscopic treatment for this syndrome were also evaluated.A total of 232 knees of 169 patients >40 years of age (41-82, median: 63 years old) suffering from chronic knee pain were analyzed. The clinical diagnosis, predisposing factors, presenting symptoms, and physical signs were investigated. The sensitivity and specificity of each parameter of the clinical presentation for the diagnosis of MAS were evaluated after confirmation by arthroscopy. For patients with MAS, the roentgenographic and arthroscopic manifestations were investigated, and arthroscopic medial release (AMR) was performed. The outcomes were evaluated by the changes in the pain domain of the Knee Society scoring system and by patient satisfaction. The prevalence of medial plica was 95%, and osteoarthritis (OA) was the most common clinical diagnosis. Symptoms of pain and crepitus in motion and local tenderness during physical examination were the most sensitive parameters for the diagnosis. A history of a single knee injury combined with local tenderness and a palpable band found during physical examination were the most specific parameters for the diagnosis. The majority of patients suffering from this syndrome were successfully treated using AMR, yielding a satisfaction rate of 85.5% after a minimum of 3 years.MAS is a common cause of knee pain in middle and old age and can be effectively treated by AMR. Its concomitance with OA warrants further investigation.

  6. Trends and Cut-Point Changes in Obesity Parameters by Age Groups Considering Metabolic Syndrome.

    Park, Hyung Jun; Hong, Young Ho; Cho, Yun Jung; Lee, Ji Eun; Yun, Jae Moon; Kwon, Hyuktae; Kim, Sang Hyuck

    2018-02-12

    Non-communicable diseases (NCDs) are an important issue worldwide. Obesity has a close relationship with NCDs. Various age-related changes should be considered when evaluating obesity. National representative cohort data from the National Health Insurance Service National Sample Cohort from 2012 to 2013 were used. Sex-specific and age group-specific (10-year intervals) means for body mass index (BMI), waist circumference (WC), and waist-to-height ratio (WtHR) were calculated. Optimal cut-points for obesity parameters were defined as the value predicting two or more components of metabolic syndrome (except WC). The mean value and optimal cut-point for BMI decreased with age for men. The mean BMI value for women increased with age, but optimal cut-points showed no remarkable difference. The mean WC of men increased with age, but the optimal cut-points were similar for age groups. For women, the mean value and optimal cut-point for WC increased with age. Regarding WtHR, the mean value and optimal cut-point increased with age for men and women. Differences across age groups were larger for women. The mean values of the obesity indices and the optimal cut-points were changed according to age groups. This study supports the necessity of applying age group-specific cut-points for the various obesity parameters. © 2018 The Korean Academy of Medical Sciences.

  7. Neu-Laxova syndrome in an appropriate for gestational age newborn

    Dilli Dilek

    2008-01-01

    Full Text Available Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings, and limb contractures are its key features. We present a case of Neu-Laxova syndrome in a male appropriate for gestational age (AGA newborn with characteristic features including ichthyosis, microcephaly, severe ectropion, rudimentary ears, eclabion, limb contractures, and hypoplastic genitalia. The patient was born at 38 weeks of gestation to consanguinous Turkish parents. The mother was a 20-year-old primi gravida with lack of prenatal follow-up. Therefore, the case was diagnosed postnatally, and he died 5 days later. Because of the autosomal recessive inheritance of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, such as Turkey, physicians have to know this syndrome, and serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk. To the best of our knowledge, this is the first case described in an AGA newborn.

  8. Age as a Risk Factor for Burnout Syndrome in Nursing Professionals: A Meta-Analytic Study.

    Gómez-Urquiza, José L; Vargas, Cristina; De la Fuente, Emilia I; Fernández-Castillo, Rafael; Cañadas-De la Fuente, Guillermo A

    2017-04-01

    Although past research has highlighted the possibility of a direct relationship between the age of nursing professionals and burnout syndrome, results have been far from conclusive. The aim of this study was to conduct a wider analysis of the influence of age on the three dimensions of burnout syndrome (emotional exhaustion, depersonalization, and personal accomplishment) in nurses. We performed a meta-analysis of 51 publications extracted from health sciences and psychology databases that fulfilled the inclusion criteria. There were 47 reports of information on emotional exhaustion in 50 samples, 39 reports on depersonalization for 42 samples, and 31 reports on personal accomplishment in 34 samples. The mean effect sizes indicated that younger age was a significant factor in the emotional exhaustion and depersonalization of nurses, although it was somewhat less influential in the dimension of personal accomplishment. Because of heterogeneity in the effect sizes, moderating variables that might explain the association between age and burnout were also analyzed. Gender, marital status, and study characteristics moderated the relationship between age and burnout and may be crucial for the identification of high-risk groups. More research is needed on other variables for which there were only a small number of studies. Identification of burnout risk factors will facilitate establishment of burnout prevention programs for nurses. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome.

    Wolters, Pamela L; Gropman, Andrea L; Martin, Staci C; Smith, Michaele R; Hildenbrand, Hanna L; Brewer, Carmen C; Smith, Ann C M

    2009-10-01

    Systematic data regarding early neurodevelopmental functioning in Smith-Magenis syndrome are limited. Eleven children with Smith-Magenis syndrome less than 3 years of age (mean, 19 months; range, 5-34 months) received prospective multidisciplinary assessments using standardized measures. The total sample scored in the moderately to severely delayed range in cognitive functioning, expressive language, and motor skills and exhibited generalized hypotonia, oral-motor abnormalities, and middle ear dysfunction. Socialization skills were average, and significantly higher than daily living, communication, and motor abilities, which were below average. Mean behavior ratings were in the nonautistic range. According to exploratory analyses, the toddler subgroup scored significantly lower than the infant subgroup in cognition, expressive language, and adaptive behavior, suggesting that the toddlers were more delayed than the infants relative to their respective peers. Infants aged approximately 1 year or younger exhibited cognitive, language, and motor skills that ranged from average to delayed, but with age-appropriate social skills and minimal maladaptive behaviors. At ages 2 to 3 years, the toddlers consistently exhibited cognitive, expressive language, adaptive behavior, and motor delays and mildly to moderately autistic behaviors. Combining age groups in studies may mask developmental and behavioral differences. Increased knowledge of these early neurodevelopmental characteristics should facilitate diagnosis and appropriate intervention.

  10. Sperm competition games when males invest in paternal care.

    Requena, Gustavo S; Alonzo, Suzanne H

    2017-08-16

    Sperm competition games investigate how males partition limited resources between pre- and post-copulatory competition. Although extensive research has explored how various aspects of mating systems affect this allocation, male allocation between mating, fertilization and parental effort has not previously been considered. Yet, paternal care can be energetically expensive and males are generally predicted to adjust their parental effort in response to expected paternity. Here, we incorporate parental effort into sperm competition games, particularly exploring how the relationship between paternal care and offspring survival affects sperm competition and the relationship between paternity and paternal care. Our results support existing expectations that (i) fertilization effort should increase with female promiscuity and (ii) paternal care should increase with expected paternity. However, our analyses also reveal that the cost of male care can drive the strength of these patterns. When paternal behaviour is energetically costly, increased allocation to parental effort constrains allocation to fertilization effort. As paternal care becomes less costly, the association between paternity and paternal care weakens and may even be absent. By explicitly considering variation in sperm competition and the cost of male care, our model provides an integrative framework for predicting the interaction between paternal care and patterns of paternity. © 2017 The Author(s).

  11. Age and sex effects on human mutation rates. An old problem with new complexities

    Crow, James F.

    2006-01-01

    Base substitution mutations are far more common in human males than in females, and the frequency increases with paternal age. Both can be accounted for by the greater number of pre-meiotic cell divisions in males, especially old ones. In contrast, small deletions do not show any important age effect and occur with approximately equal frequency in the two sexes. Mutations in most genes include both types, and the sex and paternal age effect depends on the proportion of the two types. A few traits, of which Apert Syndrome is best understood, are mutation hot spots with all the mutations occurring in one or two codons, usually at one nucleotide. They occur with very high frequency almost exclusively in males and the frequency increases rapidly with paternal age. It has been suggested that the mutant cells have a selective advantage in the male germ-line prior to meiosis. Evidence for this surprising, but important, hypothesis is discussed. A possible mechanism is the conversion of asymmetrical stem-cell divisions into symmetric ones. Some traits with complex etiology show a slight paternal age effect. There is also a short discussion of the high deleterious mutation rate and the role of sexual reproduction in reducing the consequent mutation load. (author)

  12. Effects of a Paternal Participation Program during Cesarean Section on Paternal Infant Attachment

    Hyun Kyoung Kim

    2013-06-01

    Full Text Available PurposeIn this study effects of a paternal participation program during cesarean section on paternal infant attachment were investigate. The experimental treatment was an integrative nursing intervention to promote father to infant attachment.MethodsStudy design was a non-equivalent control group posttest design. The program consisted of emotional support to spouse and father towards infant attachment immediately following cesarean birth. Participants were 66 men, partners of women with normal full term pregnancy having a cesarean section with spinal or epidural anesthesia, (experimental group, 34; control group, 32. The experiment was carried out from August 1 to October 30, 2010. Control group data were obtained from May 1 to June 30, 2012. Posttest was performed 72 hours after cesarean birth. A self-report questionnaire including a paternal attachment instrument was used. Data were analyzed using t-test, propensity score matching, and analysis of covariance with the SPSS/WIN 18.0 program.ResultsTotal score for paternal infant attachment in the experimental group was significantly higher than the control group (p<.001. After matching, significant differences were found between the two groups through all subcategories. Adjusted mean score for paternal infant attachment verified experimental effects.ConclusionResults indicate that this paternal participation program during cesarean section is effective in improving paternal infant attachment.

  13. Brain-predicted age in Down syndrome is associated with beta amyloid deposition and cognitive decline.

    Cole, James H; Annus, Tiina; Wilson, Liam R; Remtulla, Ridhaa; Hong, Young T; Fryer, Tim D; Acosta-Cabronero, Julio; Cardenas-Blanco, Arturo; Smith, Robert; Menon, David K; Zaman, Shahid H; Nestor, Peter J; Holland, Anthony J

    2017-08-01

    Individuals with Down syndrome (DS) are more likely to experience earlier onset of multiple facets of physiological aging. This includes brain atrophy, beta amyloid deposition, cognitive decline, and Alzheimer's disease-factors indicative of brain aging. Here, we employed a machine learning approach, using structural neuroimaging data to predict age (i.e., brain-predicted age) in people with DS (N = 46) and typically developing controls (N = 30). Chronological age was then subtracted from brain-predicted age to generate a brain-predicted age difference (brain-PAD) score. DS participants also underwent [ 11 C]-PiB positron emission tomography (PET) scans to index the levels of cerebral beta amyloid deposition, and cognitive assessment. Mean brain-PAD in DS participants' was +2.49 years, significantly greater than controls (p brain-PAD was associated with the presence and the magnitude of PiB-binding and levels of cognitive performance. Our study indicates that DS is associated with premature structural brain aging, and that age-related alterations in brain structure are associated with individual differences in the rate of beta amyloid deposition and cognitive impairment. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  14. Gastroesophageal reflux disease vs. Panayiotopoulos syndrome: an underestimated misdiagnosis in pediatric age?

    Parisi, Pasquale; Pacchiarotti, Claudia; Ferretti, Alessandro; Bianchi, Simona; Paolino, Maria Chiara; Barreto, Mario; Principessa, Luigi; Villa, Maria Pia

    2014-12-01

    Autonomic signs and symptoms could be of epileptic or nonepileptic origin, and the differential diagnosis depends on a number of factors which include the nature of the autonomic manifestations themselves, the occurrence of other nonictal autonomic signs/symptoms, and the age of the patient. Here, we describe twelve children (aged from ten months to six years at the onset of the symptoms) with Panayiotopoulos syndrome misdiagnosed as gastroesophageal reflux disease. Gastroesophageal reflux disease and Panayiotopoulos syndrome may represent an underestimated diagnostic challenge. When the signs/symptoms occur mainly during sleep, a sleep EEG or, if available, a polysomnographic evaluation may be the most useful investigation to make a differential diagnosis between autonomic epileptic and nonepileptic disorders. An early detection can reduce both the high morbidity related to mismanagement and the high costs to the national health service related to the incorrect diagnostic and therapeutic approaches. To decide if antiseizure therapy is required, one should take into account both the frequency and severity of epileptic seizures and the tendency to have potentially lethal autonomic cardiorespiratory involvement. In conclusion, we would emphasize the need to make a differential diagnosis between gastroesophageal reflux disease and Panayiotopoulos syndrome in patients with "an unusual" late-onset picture of GERD and acid therapy-resistant gastroesophageal reflux, especially if associated with other autonomic symptoms and signs. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. Teenage pregnancy and the influence of paternal involvement on fetal outcomes.

    Alio, Amina P; Mbah, Alfred K; Grunsten, Ryan A; Salihu, Hamisu M

    2011-12-01

    We sought to assess the impact of paternal involvement on adverse birth outcomes in teenage mothers. Using vital records data, we generated odds ratios (OR) and 95% confidence intervals (CI) to assess the association between paternal involvement and fetal outcomes in 192,747 teenage mothers. Paternal involvement status was based on presence/absence of paternal first and/or last name on the birth certificate. Data were obtained from vital records data from singleton births in Florida between 1998 and 2007. The study population consisted of 192,747 teenage mothers ≤ 20 years old with live single births in the State of Florida. Low birth weight, very low birth weight, preterm birth, very preterm birth, small for gestational age (SGA), neonatal death, post-neonatal death, and infant death. Risks of SGA (OR = 1.06; 95% CI: 1.03-1.10), low birth weight (OR = 1.19; 95% CI: 1.15-1.23), very low birth weight (OR = 1.53; 95% CI: 1.41-1.67), preterm birth (OR = 1.21; 95% CI: 1.17-1.25), and very preterm birth (OR = 1.49; 95% CI: 1.38-1.62) were elevated for mothers in the father-absent group. When results were stratified by race, black teenagers in the father-absent group had the highest risks of adverse birth outcomes when compared to white teenagers in the father-involved group. Lack of paternal involvement is a risk factor for adverse birth outcomes among teenage mothers; risks are most pronounced among African-American teenagers. Our findings suggest that increased paternal involvement can have a positive impact on birth outcomes for teenage mothers, which may be important for decreasing the racial disparities in infant morbidities. More studies assessing the impact of greater paternal involvement on birth outcomes are needed. Copyright © 2011 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  16. The utility of metformin therapy in reproductive-aged women with polycystic ovary syndrome (PCOS).

    Nathan, Nisha; Sullivan, Shannon D

    2014-01-01

    Metformin, an insulin-sensitizing drug commonly used to treat Type 2 Diabetes Mellitus (T2DM), has been increasingly used off-label for the treatment of polycystic ovary syndrome (PCOS), which affects at least 5-10% of reproductive- age women. With very little risk associated with its use, metformin provides many important benefits to women with PCOS, including regulating menstrual cycles, improving clinical signs of hyperandrogenism, ameliorating metabolic syndrome, inducing ovulation, improving pregnancy rates and pregnancy outcomes, preventing gestational diabetes, and preventing progression to T2DM. Here, we review the indications for metformin in women with PCOS, with a focus on the use of metformin during pre-conception and pregnancy.

  17. Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome.

    Liu, Guang-Hui; Barkho, Basam Z; Ruiz, Sergio; Diep, Dinh; Qu, Jing; Yang, Sheng-Lian; Panopoulos, Athanasia D; Suzuki, Keiichiro; Kurian, Leo; Walsh, Christopher; Thompson, James; Boue, Stephanie; Fung, Ho Lim; Sancho-Martinez, Ignacio; Zhang, Kun; Yates, John; Izpisua Belmonte, Juan Carlos

    2011-04-14

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare and fatal human premature ageing disease, characterized by premature arteriosclerosis and degeneration of vascular smooth muscle cells (SMCs). HGPS is caused by a single point mutation in the lamin A (LMNA) gene, resulting in the generation of progerin, a truncated splicing mutant of lamin A. Accumulation of progerin leads to various ageing-associated nuclear defects including disorganization of nuclear lamina and loss of heterochromatin. Here we report the generation of induced pluripotent stem cells (iPSCs) from fibroblasts obtained from patients with HGPS. HGPS-iPSCs show absence of progerin, and more importantly, lack the nuclear envelope and epigenetic alterations normally associated with premature ageing. Upon differentiation of HGPS-iPSCs, progerin and its ageing-associated phenotypic consequences are restored. Specifically, directed differentiation of HGPS-iPSCs to SMCs leads to the appearance of premature senescence phenotypes associated with vascular ageing. Additionally, our studies identify DNA-dependent protein kinase catalytic subunit (DNAPKcs, also known as PRKDC) as a downstream target of progerin. The absence of nuclear DNAPK holoenzyme correlates with premature as well as physiological ageing. Because progerin also accumulates during physiological ageing, our results provide an in vitro iPSC-based model to study the pathogenesis of human premature and physiological vascular ageing.

  18. What Exactly (If Anything) Is Wrong with Paternalism towards Children?

    Drerup, Johannes

    2017-01-01

    Theoretical and practical issues concerning the justification of paternalism towards children are widely debated in a variety of philosophical contexts. The major focus of these debates lies either on questions concerning the general legitimacy of paternalism towards children or on justifications of paternalism in concrete situations involving…

  19. Combined association of maternal and paternal family history of diabetes with plasma leptin and adiponectin in overweight Hispanic children.

    Koebnick, C; Kelly, L A; Lane, C J; Roberts, C K; Shaibi, G Q; Toledo-Corral, C M; Davis, J N; Weigensberg, M J; Goran, M I

    2008-09-01

    To investigate the importance of a maternal and paternal family history of Type 2 diabetes and their combined association with plasma leptin and adiponectin levels in overweight Latino children with a family history of Type 2 diabetes (T2DM). This cross-sectional study investigated the combined association of a maternal and paternal family history of T2DM with leptin and adiponectin in 175 overweight Latino children (age 11.1 +/- 1.7 years). All subjects had a family history of T2DM. Plasma adiponectin and leptin levels, body fat measured by dual-energy X-ray absorptiometry, Tanner stage, age and insulin sensitivity were assessed. After adjustment for age, gestational diabetes, insulin sensitivity and body fat, a combined maternal and paternal family history of T2DM was associated with higher leptin concentrations (P = 0.004) compared with a maternal or paternal family history alone. This association was most pronounced at Tanner stage 1 (P for interaction family history x tanner stage = 0.022). The presence of a combined maternal and paternal family history of T2DM accounted for 4% (P = 0.003) of the variation in leptin concentrations. No such combined association was observed for adiponectin levels. Maternal and paternal family history of T2DM may have an additive impact on leptin, but not on adiponectin levels independent of adiposity and insulin sensitivity in overweight Latino children. This may contribute to a further clinically relevant deterioration of metabolic health in this population.

  20. Functional abilities in aging women with Rett syndrome - the Danish cohort

    Schönewolf-Greulich, Bitten; Stahlhut, Michelle; Larsen, Jane Lunding

    2017-01-01

    though the syndrome causes severe psychomotor disability, women with RTT can live long into adulthood. PURPOSE: We aim to describe what to expect from aging women with RTT regarding some of the basic functional abilities that are used in daily activities and that could have an impact on quality of life...... that can be difficult to recognize. Implications for rehabilitation 3/4 of aging RTT women are household ambulators - daily training of motor functions and focus on assisting the initiation of movements are needed lifelong to maintain walking ability and participation in daily activities More than half...... in these women. METHODS: A team of two medical doctors, a physiotherapist and an educational psychological adviser, performed clinical evaluations of 27 women with RTT in Denmark above 30 years of age and confirmed MECP2 mutation. RESULTS: We found that 63% of the women were able to walk outside their homes...

  1. An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome

    Emma L. Jones

    2011-01-01

    Full Text Available People with Down syndrome (DS develop Alzheimer's disease (AD with an early age of onset. A tetranucleotide repeat, attt5−8, in intron 7 of the amyloid precursor protein has been associated with the age of onset of AD in DS in a preliminary study. The authors examine the impact of this polymorphism in a larger cohort of individuals with DS. Adults with DS were genotyped for attt5−8 and APOE. The results were analysed with respect to the age of onset of dementia. The presence of three copies of the six-repeat allele resulted in onset of dementia seven years earlier than in the presence of other genotypes. Further study is essential to elucidate the mechanism by which this polymorphism functions, with an exciting opportunity to identify novel treatment targets relevant for people with DS and AD.

  2. Paternal investment and status-related child outcomes: timing of father's death affects offspring success.

    Shenk, Mary K; Scelza, Brooke A

    2012-09-01

    Recent work in human behavioural ecology has suggested that analyses focusing on early childhood may underestimate the importance of paternal investment to child outcomes since such investment may not become crucial until adolescence or beyond. This may be especially important in societies with a heritable component to status, as later investment by fathers may be more strongly related to a child's adult status than early forms of parental investment that affect child survival and child health. In such circumstances, the death or absence of a father may have profoundly negative effects on the adult outcomes of his children that cannot be easily compensated for by the investment of mothers or other relatives. This proposition is tested using a multigenerational dataset from Bangalore, India, containing information on paternal mortality as well as several child outcomes dependent on parental investment during adolescence and young adulthood. The paper examines the effects of paternal death, and the timing of paternal death, on a child's education, adult income, age at marriage and the amount spent on his or her marriage, along with similar characteristics of spouses. Results indicate that a father's death has a negative impact on child outcomes, and that, in contrast to some findings in the literature on father absence, the effects of paternal death are strongest for children who lose their father in late childhood or adolescence.

  3. Paternal history of diabetes mellitus and hypertension affects the prevalence and phenotype of PCOS.

    Cheng, Chen; Zhang, Haolin; Zhao, Yue; Li, Rong; Qiao, Jie

    2015-12-01

    The purpose of the present study is to determine if paternal or maternal history of diabetes mellitus (DM) and hypertension (HT) contributes to the prevalence and phenotype of polycystic ovary syndrome (PCOS). We performed an epidemiologic study about PCOS from four districts in Beijing, China, between 2008 and 2009. Parental histories of DM and HT were collected, and the basic characteristics and serum indices of 123 PCOS patients and 718 non-PCOS controls were tested. The prevalence of a parental history of DM and HT was significantly higher in PCOS patients than non-PCOS women (17.1 % vs. 9.2 % and 42.3 % vs. 26.0 %, P PCOS and non-PCOS patients (odds ratio (OR) = 3.42, 95 % confidence interval (CI) = 1.69-6.91; OR = 2.50, 95 % CI = 1.58-3.93, respectively). A paternal history of both DM and HT was significantly associated with sex hormone-binding globulin, fasting plasma glucose, and fasting insulin levels, the free androgen index, and the homeostatic model assessment-insulin resistance in PCOS patients (P PCOS. PCOS patients with a positive paternal history of both DM and HT have an adverse endocrine and metabolic profile. A paternal history of DM and HT poses a risk to PCOS.

  4. Motor Deficits of Girls with Down Syndrome in Comparing with Girls with Intellectual Disability in the School Ages Children

    Tahereh Daftari-Anbardan

    2014-03-01

    Full Text Available Objective: Motor function in children with Down syndrome is similar to mentally retarded children. But the movements are slower and have lower quality. The purpose of this study was to identify weaknesses in motor function in children with Down syndrome, by using Bruininks Oseretsky Test of Motor Proficiency (BOTMP. Materials & Methods: In this cross-sectional study, thirty six children with intellectual disability, 18 girls with Down syndrome and 18 girls without Down syndrome, with chronological aged 8-13 years were investigated. The subjects of Down syndrome were selected by available sampling. The subjects of intellectual disability were selected by simple random sampling. Two groups of participants were matched for chronological age and IQ level. The measurement was BOTMP. Statistical analysis was performed using the Mann-Whitney U rank sum test and t-test. Results: The children with Down syndrome scored significantly lower than the mentally retarded children in the areas of gross motor skill composite (P<0.014 balance (P<0.029, response time (P<0.034 and visual motor control (P<0.048, but the fine motor and overlay motor skill composite, and subtests of bilateral coordination, strength, upper limb coordination scores were no significantly different between two groups. Conclusion: Motor rehabilitation is appropriate for children with intellectual disability, especially for children with Down syndrome, in throughout their adolescence. Key words: Motor skill/ Intellectual Disability/ Down syndrome/ BOTMP

  5. Socioeconomic and Behavioral Characteristics Associated With Metabolic Syndrome Among Overweight/Obese School-age Children.

    Ham, Ok Kyung

    Obesity in children comprises a significant public health concern in Korea. As with increased prevalence of overweight and obesity among children, risk factors for metabolic syndrome (MetS) have also increased in this population. The purpose was to examine behavioral and socioeconomic factors that were associated with biomarkers of MetS among overweight/obese school-age children. A cross-sectional study was conducted, and a convenience sample of 75 overweight/obese school-age children participated. Socioeconomic and behavioral characteristics, anthropometric measurements, and physiologic examinations were studied. The data were analyzed using an analysis of covariance and logistic regression. Metabolic syndrome was diagnosed in 27.8% of our population. Severe stress was significantly associated with elevated systolic blood pressure (P family characteristics, children's perception of family income (wealthy and very wealthy) and mother's education level (high school or less) were associated with diagnoses of MetS in children (P < .05). The results indicated that certain socioeconomic and behavioral characteristics were associated with risk factors of MetS, and therefore, interventions to modify these risk factors are needed to promote the healthy development of overweight/obese school-age children.

  6. Daddy issues: paternal effects on phenotype.

    Rando, Oliver J

    2012-11-09

    The once popular and then heretical idea that ancestral environment can affect the phenotype of future generations is coming back into vogue due to advances in the field of epigenetic inheritance. How paternal environmental conditions influence the phenotype of progeny is now a tractable question, and researchers are exploring potential mechanisms underlying such effects. Copyright © 2012 Elsevier Inc. All rights reserved.

  7. Paternal Attachment, Parenting Beliefs and Children's Attachment

    Howard, Kimberly S.

    2010-01-01

    Relationships between fathers' romantic attachment style, parenting beliefs and father-child attachment security and dependence were examined in a diverse sample of 72 fathers of young children. Paternal romantic attachment style was coded based on fathers' endorsement of a particular style represented in the Hazan and Shaver Three-Category…

  8. Disrupting Dominant Discourses about Paternal Participation.

    Brownson, Chris

    It is clear that the impact of paternal participation on children is overwhelmingly positive. Despite the benefits, men still lag behind women as equal and responsible contributors in childcare although their participation is increasing. This paper focuses on why men are not more involved in childcare and recognizes the ways in which…

  9. The Definition of Nudge and Libertarian Paternalism

    Hansen, Pelle Guldborg

    2016-01-01

    paternalism, but also clarifies how nudges relate to incentives and information, and may even be consistent with the removal of certain types of choices. In the end we are left with a revised definition of the concept of nudge that allows for consistently categorising behaviour change interventions...

  10. Metabolic syndrome and its components in Polish women of childbearing age: a nationwide study

    Dorota Szostak-Węgierek

    2017-07-01

    Full Text Available Abstract Background Abnormal body mass and related metabolic disorders may affect female reproductive health. The purpose of the study was to determine the prevalence of underweight, overweight, obesity, lipid and glucose metabolism disorders, hypertension, and metabolic syndrome, among Polish women of childbearing age. Methods One thousand five hundred eighty-eight non-pregnant Polish women of childbearing age (20–49 years who participated in the Multi-Centre National Population Health Examination Survey (WOBASZ II study in 2013–2014, were assigned to 3 age groups: 20–29 years (n = 403, 30–39 years (n = 600 and 40–49 years (n = 585. Measurements of weight, height, waist circumference, blood pressure, blood lipids, and blood glucose were taken. For statistical analysis, the Kruskal-Wallis, Chi-Square, and Cohran-Armitage tests were used. Results Of the participants, 4.3% were determined to be underweight, 25.2% were overweight, 15% were obese, and 53.1% had abdominal obesity. With age, the prevalence of both excessive body mass and abdominal obesity tended to increase, and that of underweight to decrease. Frequency of hypercholesterolemia and hypertriglyceridemia found in the whole group were 50% and 12.6% respectively, and also tended to rise with age. Low serum HDL-cholesterol (high density lipoprotein cholesterol levels were found in 15.1% of the participants. Prevalence of impaired fasting glucose in the whole group was 8.2% and tended to increase with age. Diabetes was found in 1.2% of the participants and its prevalence also tended to rise with age, at the borderline of significance. Frequency of arterial hypertension and metabolic syndrome in the whole group was 15.7% and 14.1% respectively and both tended to increase with age. Conclusions Overweight and obesity, especially of abdominal type, and the related metabolic abnormalities are common in Polish women of childbearing age. Their prevalence tends to increase with

  11. Metabolic syndrome and its components in Polish women of childbearing age: a nationwide study.

    Szostak-Węgierek, Dorota; Waśkiewicz, Anna; Piotrowski, Walerian; Stepaniak, Urszula; Pająk, Andrzej; Kwaśniewska, Magdalena; Nadrowski, Paweł; Niklas, Arkadiusz; Puch-Walczak, Aleksandra; Drygas, Wojciech

    2017-07-13

    Abnormal body mass and related metabolic disorders may affect female reproductive health. The purpose of the study was to determine the prevalence of underweight, overweight, obesity, lipid and glucose metabolism disorders, hypertension, and metabolic syndrome, among Polish women of childbearing age. One thousand five hundred eighty-eight non-pregnant Polish women of childbearing age (20-49 years) who participated in the Multi-Centre National Population Health Examination Survey (WOBASZ II study) in 2013-2014, were assigned to 3 age groups: 20-29 years (n = 403), 30-39 years (n = 600) and 40-49 years (n = 585). Measurements of weight, height, waist circumference, blood pressure, blood lipids, and blood glucose were taken. For statistical analysis, the Kruskal-Wallis, Chi-Square, and Cohran-Armitage tests were used. Of the participants, 4.3% were determined to be underweight, 25.2% were overweight, 15% were obese, and 53.1% had abdominal obesity. With age, the prevalence of both excessive body mass and abdominal obesity tended to increase, and that of underweight to decrease. Frequency of hypercholesterolemia and hypertriglyceridemia found in the whole group were 50% and 12.6% respectively, and also tended to rise with age. Low serum HDL-cholesterol (high density lipoprotein cholesterol) levels were found in 15.1% of the participants. Prevalence of impaired fasting glucose in the whole group was 8.2% and tended to increase with age. Diabetes was found in 1.2% of the participants and its prevalence also tended to rise with age, at the borderline of significance. Frequency of arterial hypertension and metabolic syndrome in the whole group was 15.7% and 14.1% respectively and both tended to increase with age. Overweight and obesity, especially of abdominal type, and the related metabolic abnormalities are common in Polish women of childbearing age. Their prevalence tends to increase with age. Underweight is relatively common in the youngest age group.

  12. Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome

    Haji Mohammed Nazir

    2017-01-01

    Full Text Available Hutchinson-Gilford Progeria Syndrome (HGPS is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the characteristic radiological features. In this paper, we report a 16-year-old boy with clinical and radiological features of this rare genetic disorder. He had a characteristic facial appearance with a large head, large eyes, thin nose with beaked tip, small chin, protruding ears, prominent scalp veins, and absence of hair.

  13. Adolescent oligomenorrhea (age 14-19) tracks into the third decade of life (age 20-28) and predicts increased cardiovascular risk factors and metabolic syndrome.

    Glueck, Charles J; Woo, Jessica G; Khoury, Philip R; Morrison, John A; Daniels, Stephen R; Wang, Ping

    2015-04-01

    Assess whether adolescent oligomenorrhea (age 14-19) tracks into young adulthood (age 20-28) and predicts increased cardiometabolic risk factors, metabolic syndrome (MetS), and impaired fasting glucose-type II diabetes mellitus (IFG+T2DM). Prospective study of menstrual cyclicity and its metabolic effects in 865 black and white schoolgirls from age 9 to 19, and 605 of these 865 girls from age 20 to 28. Patterns of menstrual delays (oligomenorrhea) during ages 14-19 and ages 20-28 were closely related (ppolycystic ovary syndrome (PCOS, p=.049) predicted ages 20-28 menses delay. Menses delays during ages 14-19 and 20-28, and, their interaction product were correlated with IFG+T2DM and MetS at ages 20-28. Waist circumference (ages 20-28, prisk factor for future development of young adult IFG+T2DM, MetS, oligomenorrhea, and polycystic ovary syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  14. Father Involvement, Paternal Sensitivity, and Father-Child Attachment Security in the First Three Years

    Brown, Geoffrey L.; Mangelsdorf, Sarah C.; Neff, Cynthia

    2014-01-01

    To reach a greater understanding of the early father-child attachment relationship, this study examined concurrent and longitudinal associations among father involvement, paternal sensitivity, and father-child attachment security at 13 months and 3 years of age. Analyses revealed few associations among these variables at 13 months of age, but involvement and sensitivity independently predicted father-child attachment security at age 3. Moreover, sensitivity moderated the association between involvement and attachment security at 3 years. Specifically, involvement was unrelated to attachment security when fathers were highly sensitive, but positively related to attachment security when fathers were relatively less sensitive. Father involvement was also moderately stable across the two timepoints, but paternal sensitivity was not. Furthermore, there was significant stability in father-child attachment security from 13 months to 3 years. Secure attachment at 13 months also predicted greater levels of paternal sensitivity at 3 years, with sensitivity at age 3 mediating the association between 13 month and 3 year attachment security. In sum, a secure father-child attachment relationship a) was related to both quantity and quality of fathering behavior, b) remained relatively stable across early childhood, and c) predicted increased paternal sensitivity over time. These findings further our understanding of the correlates of early father-child attachment, and underscore the need to consider multiple domains of fathers’ parenting and reciprocal relations between fathering behavior and father-child attachment security. PMID:22468691

  15. Targeted Screening With Combined Age- and Morphology-Based Criteria Enriches Detection of Lynch Syndrome in Endometrial Cancer.

    Lin, Douglas I; Hecht, Jonathan L

    2016-06-01

    Endometrial cancer is associated with Lynch syndrome in 2% to 6% of cases. Adequate screening may prevent of a second cancer and incident cancers in family members via risk-reducing strategies. The goal of the study was to evaluate the detection rate of Lynch syndrome via a targeted screening approach. In 2009, we incorporated targeted Lynch syndrome screening via immunohistochemistry for MLH1, PMS2, MSH2, and MSH6, followed by MLH1 promoter hypermethylation, in select cases of endometrial carcinoma. Criteria for patient selection included (1) all patients Lynch syndrome. Therefore, targeted screening with combined age and morphology based criteria enriches detection of Lynch syndrome in endometrial cancer. However, the detection rate is lower than the rates from published series that offer universal screening. © The Author(s) 2016.

  16. Evaluating the Agreement of Risk Categorization for Fetal Down Syndrome Screening between Ultrasound-Based Gestational Age and Menstrual-Based Gestational Age by Maternal Serum Markers.

    Chaksuwat, Pakorn; Sirichotiyakul, Supatra; Luewan, Suchaya; Tongsong, Theera

    2018-01-01

    To evaluate the agreement of risk categorization for Down syndrome screening between ultrasound scan-based gestational age (GA) and last menstrual period-based gestational age in both first and second trimesters by maternal serum markers. Data comprising 4,055 and 4,016 cases of first and second trimester screening were used. The maternal serum markers were analyzed using the ultrasound-based GA and menstrual age. The subjects whose menstrual age and ultrasound-based GA fell in different trimesters were excluded because the risk could not be calculated due to the different serum markers used in each trimester. The agreement of risk categorization for fetal Down syndrome was evaluated. The agreement of Down syndrome screening in the first and the second trimesters were 92.7% and 89%, respectively. The study found a good agreement of risk categorization by Kappa index, which was 0.615 for the overall screening. The menstrual age had a slight decrease in the detection rate and a lower false-positive rate. Menstrual age is acceptable in cases of accurate last menstrual period. However, in places where ultrasonography is not readily available, gestational age estimation by menstrual age along with clinical examination that corresponds to the gestational age can be reliable.

  17. Prognostic Value of Geriatric Conditions Beyond Age After Acute Coronary Syndrome.

    Sanchis, Juan; Ruiz, Vicente; Bonanad, Clara; Valero, Ernesto; Ruescas-Nicolau, Maria Arantzazu; Ezzatvar, Yasmin; Sastre, Clara; García-Blas, Sergio; Mollar, Anna; Bertomeu-González, Vicente; Miñana, Gema; Núñez, Julio

    2017-06-01

    The aim of the present study was to investigate the prognostic value of geriatric conditions beyond age after acute coronary syndrome. This was a prospective cohort design including 342 patients (from October 1, 2010, to February 1, 2012) hospitalized for acute coronary syndrome, older than 65 years, in whom 5 geriatric conditions were evaluated at discharge: frailty (Fried and Green scales), comorbidity (Charlson and simple comorbidity indexes), cognitive impairment (Pfeiffer test), physical disability (Barthel index), and instrumental disability (Lawton-Brody scale). The primary end point was all-cause mortality. The median follow-up for the entire population was 4.7 years (range, 3-2178 days). A total of 156 patients (46%) died. Among the geriatric conditions, frailty (Green score, per point; hazard ratio, 1.11; 95% CI, 1.02-1.20; P=.01) and comorbidity (Charlson index, per point; hazard ratio, 1.18; 95% CI, 1.0-1.40; P=.05) were the independent predictors. The introduction of age in a basic model using well-established prognostic clinical variables resulted in an increase in discrimination accuracy (C-statistic=.716-.744; P=.05), though the addition of frailty and comorbidity provided a nonsignificant further increase (C-statistic=.759; P=.36). Likewise, the addition of age to the clinical model led to a significant risk reclassification (continuous net reclassification improvement, 0.46; 95% CI, 0.21-0.67; and integrated discrimination improvement, 0.04; 95% CI, 0.01-0.09). However, the addition of frailty and comorbidity provided a further significant risk reclassification in comparison to the clinical model with age (continuous net reclassification improvement, 0.40; 95% CI, 0.16-0.65; and integrated discrimination improvement, 0.04; 95% CI, 0.01-0.10). In conclusion, frailty and comorbidity are mortality predictors that significantly reclassify risk beyond age after acute coronary syndrome. Copyright © 2017 Mayo Foundation for Medical Education and

  18. IGF-1 receptor haploinsufficiency leads to age-dependent development of metabolic syndrome.

    Thakur, Sachin; Garg, Neha; Zhang, Ning; Hussey, Sophie E; Musi, Nicolas; Adamo, Martin L

    2017-05-13

    Individuals born small for gestational age (SGA) are at a higher risk of developing the metabolic syndrome later in life. IGF-1 resistance has been reported in placentae from SGA births and mutations in the Igf1 receptor gene have been reported in several cohorts of SGA subjects. We have used the Igf1r heterozygous (Igf1r +/- ) male mouse as a model to investigate the mechanisms by which Igf1r haploinsufficiency leads to insulin resistance. Despite exhibiting IGF-1 resistance, insulin signaling is enhanced in young Igf1r +/- mice but is attenuated in the muscle of old Igf1r +/- mice. Although smaller than WT (wild type) mice, old-aged Igf1r +/- had increased adiposity and exhibit increased lipogenesis. We hypothesize that IGF-1 resistance initially causes a transient increase in insulin signaling thereby promoting a lipogenic phenotype, which subsequently leads to insulin resistance. Copyright © 2017. Published by Elsevier Inc.

  19. Clinical and immunological characteristics of hemorrhagic fever with renal syndrome in women of different age groups

    Kutdusova A.M.

    2012-09-01

    Full Text Available Objective: To evaluate the clinical and immunological features of the hemorrhagic fever with renal syndrome in women of different age groups. Materials and methods: Clinical and laboratory characteristics of hemorrhagic fever with renal syndrome in 148 women aged 17 to 65 years old have been investigated. Patients have been divided into two groups: group I included 101 patients with normal menstrual rhythm, group II included 47 female patients with menopause. In 57 women (36 from group I, 21 — from group II the content of CD3+, CD4+, CD8+, CD16+, CD19+ — sub-populations of peripheral blood lymphocytes has been determined. Results: In compared groups significant differences in structure and frequency of complications of the disease have been revealed. Unidirectional tendency to increase significantly reduced absolute rates of investigated lymphocyte subpopulations in dynamics of the disease has been identified. It also has been stated that by the time of early convalescence in case of severe form of HFRS the indices did not reach the standard level. In an older group of women deeper damage and long-term recovery of immune system have been marked. Conclusion: According to the results of clinical and immunological studies the research work has revealed that in young women the response of the immune system to HFRS has developed faster and stronger than that in patients during the menopause period.

  20. Age is a critical risk factor for severe fever with thrombocytopenia syndrome.

    Shujun Ding

    Full Text Available Severe Fever with Thrombocytopenia Syndrome (SFTS is an emerging infectious disease in East Asia. SFTS is a tick borne hemorrhagic fever caused by SFTSV, a new bunyavirus named after the syndrome. We investigated the epidemiology of SFTS in Laizhou County, Shandong Province, China.We collected serum specimens of all patients who were clinically diagnosed as suspected SFTS cases in 2010 and 2011 in Laizhou County. The patients' serum specimens were tested for SFTSV by real time fluorescence quantitative PCR (RT-qPCR. We collected 1,060 serum specimens from healthy human volunteers by random sampling in Laizhou County in 2011. Healthy persons' serum specimens were tested for specific SFTSV IgG antibody by ELISA.71 SFTS cases were diagnosed in Laizhou County in 2010 and 2011, which resulted in the incidence rate of 4.1/100,000 annually. The patients ranged from 15 years old to 87 years old and the median age of the patients were 59 years old. The incidence rate of SFTS was significantly higher in patients over 40 years old and fatal cases only occurred in patients over 50 years old. 3.3% (35/1,060 of healthy people were positive to SFTSV IgG antibody. The SFTSV antibody positive rate was not significantly different among people at different age groups.Our results revealed that seroprevalence of SFTSV in healthy people in Laizhou County was not significantly different among age groups, but SFTS patients were mainly elderly people, suggesting that age is the critical risk factor or determinant for SFTS morbidity and mortality.

  1. Telomerase Protects Werner Syndrome Lineage-Specific Stem Cells from Premature Aging

    Hoi-Hung Cheung

    2014-04-01

    Full Text Available Werner syndrome (WS patients exhibit premature aging predominantly in mesenchyme-derived tissues, but not in neural lineages, a consequence of telomere dysfunction and accelerated senescence. The cause of this lineage-specific aging remains unknown. Here, we document that reprogramming of WS fibroblasts to pluripotency elongated telomere length and prevented telomere dysfunction. To obtain mechanistic insight into the origin of tissue-specific aging, we differentiated iPSCs to mesenchymal stem cells (MSCs and neural stem/progenitor cells (NPCs. We observed recurrence of premature senescence associated with accelerated telomere attrition and defective synthesis of the lagging strand telomeres in MSCs, but not in NPCs. We postulate this “aging” discrepancy is regulated by telomerase. Expression of hTERT or p53 knockdown ameliorated the accelerated aging phenotypein MSC, whereas inhibition of telomerase sensitized NPCs to DNA damage. Our findings unveil a role for telomerase in the protection of accelerated aging in a specific lineage of stem cells.

  2. Maternal and Paternal Psychological Control as Moderators of the Link between Peer Attitudes and Adolescents' Risky Sexual Behavior

    Oudekerk, Barbara A.; Allen, Joseph P.; Hafen, Christopher A.; Hessel, Elenda T.; Szwedo, David E.; Spilker, Ann

    2014-01-01

    Maternal and paternal psychological control, peer attitudes, and the interaction of psychological control and peer attitudes at age 13 were examined as predictors of risky sexual behavior before age 16 in a community sample of 181 youth followed from age 13 to 16. Maternal psychological control moderated the link between peer attitudes and sexual…

  3. Leisure time physical activity in middle age predicts the metabolic syndrome in old age: results of a 28-year follow-up of men in the Oslo study

    Holme, Ingar; Tonstad, Serena; Sogaard, Anne Johanne; Larsen, Per G Lund; Haheim, Lise Lund

    2007-01-01

    Background Data are scarce on the long term relationship between leisure time physical activity, smoking and development of metabolic syndrome and diabetes. We wanted to investigate the relationship between leisure time physical activity and smoking measured in middle age and the occurrence of the metabolic syndrome and diabetes in men that participated in two cardiovascular screenings of the Oslo Study 28 years apart. Methods Men residing in Oslo and born in 1923–32 (n = 16 209) were screened for cardiovascular diseases and risk factors in 1972/3. Of the original cohort, those who also lived in same area in 2000 were invited to a repeat screening examination, attended by 6 410 men. The metabolic syndrome was defined according to a modification of the National Cholesterol Education Program criteria. Leisure time physical activity, smoking, educational attendance and the presence of diabetes were self-reported. Results Leisure time physical activity decreased between the first and second screening and tracked only moderately between the two time points (Spearman's ρ = 0.25). Leisure time physical activity adjusted for age and educational attendance was a significant predictor of both the metabolic syndrome and diabetes in 2000 (odds ratio for moderately vigorous versus sedentary/light activity was 0.65 [95% CI, 0.54–0.80] for the metabolic syndrome and 0.68 [0.52–0.91] for diabetes) (test for trend P < 0.05). However, when adjusted for more factors measured in 1972/3 including glucose, triglycerides, body mass index, treated hypertension and systolic blood pressure these associations were markedly attenuated. Smoking was associated with the metabolic syndrome but not with diabetes in 2000. Conclusion Physical activity during leisure recorded in middle age prior to the current waves of obesity and diabetes had an independent predictive association with the presence of the metabolic syndrome but not significantly so with diabetes 28 years later in life, when

  4. Maternal or paternal suicide and offspring's psychiatric and suicide-attempt hospitalization risk.

    Kuramoto, S Janet; Stuart, Elizabeth A; Runeson, Bo; Lichtenstein, Paul; Långström, Niklas; Wilcox, Holly C

    2010-11-01

    We examined whether the risk for psychiatric morbidity requiring inpatient care was higher for offspring who experienced parental suicide, compared with offspring of fatal accident decedents, and whether the association varied according to the deceased parent's gender. Children and adolescents (0-17 years of age) who experienced maternal (N = 5600) or paternal (N = 17,847) suicide in 1973-2003 in Sweden were identified by using national, longitudinal, population-based registries. Cox regression modeling was used to compare psychiatric hospitalization risks among offspring of suicide decedents and propensity score-matched offspring of accident decedents. Offspring of maternal suicide decedents had increased risk of suicide-attempt hospitalization, after controlling for psychiatric hospitalization for decedents and surviving parents, compared with offspring of maternal accidental decedents. Offspring of paternal suicide decedents had similar risk of suicide-attempt hospitalization, compared with offspring of accident decedents, but had increased risk of hospitalization attributable to depressive and anxiety disorders. The magnitude of risks for offspring suicide-attempt hospitalization was greater for those who experienced maternal versus paternal suicide, compared with their respective control offspring (interaction P = .05; offspring of maternal decedents, adjusted hazard ratio: 1.80 [95% confidence interval: 1.19-2.74]; offspring of paternal decedents, adjusted hazard ratio: 1.14 [95% confidence interval: 0.96-1.35]). Maternal suicide is associated with increased risk of suicide-attempt hospitalization for offspring, beyond the risk associated with maternal accidental death. However, paternal suicide is not associated with suicide-attempt hospitalization. Future studies should examine factors that might differ between offspring who experience maternal versus paternal suicide, including genetic or early environmental determinants.

  5. Preconception maternal and paternal exposure to persistent organic pollutants and birth size: the LIFE study.

    Robledo, Candace A; Yeung, Edwina; Mendola, Pauline; Sundaram, Rajeshwari; Maisog, Jose; Sweeney, Anne M; Barr, Dana Boyd; Louis, Germaine M Buck

    2015-01-01

    Persistent organic pollutants (POPs) are developmental toxicants, but the impact of both maternal and paternal exposures on offspring birth size is largely unexplored. We examined associations between maternal and paternal serum concentrations of 63 POPs, comprising five major classes of pollutants, with birth size measures. Parental serum concentrations of 9 organochlorine pesticides, 1 polybrominated biphenyl (PBB), 7 perfluoroalkyl chemicals (PFCs), 10 polybrominated diphenyl ethers (PBDEs), and 36 polychlorinated biphenyls (PCBs) were measured before conception for 234 couples. Differences in birth weight, length, head circumference, and ponderal index were estimated using multiple linear regression per 1-SD increase in natural log-transformed (ln-transformed) chemicals. Models were estimated separately for each parent and adjusted for maternal age, maternal prepregnancy body mass index (kilograms per meter squared) and other confounders, and all models included an interaction term between infant sex and each chemical. Among girls (n = 117), birth weight was significantly lower (range, 84-195 g) in association with a 1-SD increase in ln-transformed maternal serum concentrations of DDT, PBDE congeners 28 and 183, and paternal serum concentrations of PBDE-183 and PCB-167. Among boys (n = 113), maternal (PCBs 138, 153, 167, 170, 195, and 209 and perfluorooctane sulfonamide) and paternal (PCBs 172 and 195) serum concentrations of several POPs were statistically associated with lower birth weight (range, 98-170 g), whereas paternal concentrations of PBDEs (66, 99) were associated with higher birth weight. Differences in offspring head circumference, length, and ponderal index were also associated with parental exposures. Preconceptional maternal and paternal concentrations of several POPs were associated with statistically significant differences in birth size among offspring.

  6. Age-related changes of adaptive and neuropsychological features in persons with Down Syndrome.

    Alessandro Ghezzo

    Full Text Available Down Syndrome (DS is characterised by premature aging and an accelerated decline of cognitive functions in the vast majority of cases. As the life expectancy of DS persons is rapidly increasing, this decline is becoming a dramatic health problem. The aim of this study was to thoroughly evaluate a group of 67 non-demented persons with DS of different ages (11 to 66 years, from a neuropsychological, neuropsychiatric and psychomotor point of view in order to evaluate in a cross-sectional study the age-related adaptive and neuropsychological features, and to possibly identify early signs predictive of cognitive decline. The main finding of this study is that both neuropsychological functions and adaptive skills are lower in adult DS persons over 40 years old, compared to younger ones. In particular, language and short memory skills, frontal lobe functions, visuo-spatial abilities and adaptive behaviour appear to be the more affected domains. A growing deficit in verbal comprehension, along with social isolation, loss of interest and greater fatigue in daily tasks, are the main features found in older, non demented DS persons evaluated in our study. It is proposed that these signs can be alarm bells for incipient dementia, and that neuro-cognitive rehabilitation and psycho-pharmacological interventions must start as soon as the fourth decade (or even earlier in DS persons, i.e. at an age where interventions can have the greatest efficacy.

  7. Shared decision making, paternalism and patient choice.

    Sandman, Lars; Munthe, Christian

    2010-03-01

    In patient centred care, shared decision making is a central feature and widely referred to as a norm for patient centred medical consultation. However, it is far from clear how to distinguish SDM from standard models and ideals for medical decision making, such as paternalism and patient choice, and e.g., whether paternalism and patient choice can involve a greater degree of the sort of sharing involved in SDM and still retain their essential features. In the article, different versions of SDM are explored, versions compatible with paternalism and patient choice as well as versions that go beyond these traditional decision making models. Whenever SDM is discussed or introduced it is of importance to be clear over which of these different versions are being pursued, since they connect to basic values and ideals of health care in different ways. It is further argued that we have reason to pursue versions of SDM involving, what is called, a high level dynamics in medical decision-making. This leaves four alternative models to choose between depending on how we balance between the values of patient best interest, patient autonomy, and an effective decision in terms of patient compliance or adherence: Shared Rational Deliberative Patient Choice, Shared Rational Deliberative Paternalism, Shared Rational Deliberative Joint Decision, and Professionally Driven Best Interest Compromise. In relation to these models it is argued that we ideally should use the Shared Rational Deliberative Joint Decision model. However, when the patient and professional fail to reach consensus we will have reason to pursue the Professionally Driven Best Interest Compromise model since this will best harmonise between the different values at stake: patient best interest, patient autonomy, patient adherence and a continued care relationship.

  8. [Comparison of polysomnographic characteristics in preschool and school aged children with obstructive sleep apnea hypopnea syndrome].

    Sun, Yuanfeng; Lei, Fei; Du, Lina; Tang, Xiangdong; Yang, Linghui

    2016-03-01

    To compare the characteristics of polysomnography in preschool and school aged children with obstructive sleep apnea hypopnea syndrome (OSAHS). The clinical data were collected from October 2009 to October 2013 among children monitored in Sleep Medical Center of West China Hospital. Among them, 189 preschool aged (aged 3-5 years) and 211 school aged (aged 6-13 years) children with sleep breathing disorder, and 33 children complained with sleep talking as controls were enrolled and underwent polysomnography. According to apnea hyponea index (AHI), they were classified as primary snoring (AHIstage and N2 stage among groups (P>0.05). In preschool aged children, the percentage of N1 stage in the moderate/severe group was more than other three groups (moderate/severe group vs control group, primary snoring group, mild group: 24.7%±13.7% vs 17.0%±8.7%, 21.7%±12.4%, 20.9%±11.6%, all Pstage in the moderate/severe group was more than the control group (moderate/severe group vs control group: 18.0%±10.4% vs 12.0%±4.8%, Pstage in the moderate/severe group and the mild group were less than the control group (moderate/severe group, mild group vs control group: 28.3%±9.6%, 28.8%±8.8% vs 33.9%±13.0%, both Ppreschool and school aged children group, the arouse index in the moderate/severe group was higher than other three groups, the mean oxygen saturation and the lowest oxygen saturation in the moderate/severe group were lower than those of the other three groups, the differences were statistically significant (all Ppreschool children (r=-0.02, P>0.05). However, there was significance in school aged children (r=0.26, Ppreschool and school aged (r=0.42, 0.55, both Ppreschool children than in school aged children. The severity is mainly related to enlarged tonsils and adenoids. School aged children with OSAHS may be more susceptible to sleep structure disorder and the severity is mainly related to BMI.

  9. Religion as a means to assure paternity.

    Strassmann, Beverly I; Kurapati, Nikhil T; Hug, Brendan F; Burke, Erin E; Gillespie, Brenda W; Karafet, Tatiana M; Hammer, Michael F

    2012-06-19

    The sacred texts of five world religions (Buddhism, Christianity, Hinduism, Islam, and Judaism) use similar belief systems to set limits on sexual behavior. We propose that this similarity is a shared cultural solution to a biological problem: namely male uncertainty over the paternity of offspring. Furthermore, we propose the hypothesis that religious practices that more strongly regulate female sexuality should be more successful at promoting paternity certainty. Using genetic data on 1,706 father-son pairs, we tested this hypothesis in a traditional African population in which multiple religions (Islam, Christianity, and indigenous) coexist in the same families and villages. We show that the indigenous religion enables males to achieve a significantly (P = 0.019) lower probability of cuckoldry (1.3% versus 2.9%) by enforcing the honest signaling of menstruation, but that all three religions share tenets aimed at the avoidance of extrapair copulation. Our findings provide evidence for high paternity certainty in a traditional African population, and they shed light on the reproductive agendas that underlie religious patriarchy.

  10. Clinical-epidemiological profile of oral allergy syndrome in the population aged 6 to 18 years

    Amyra Ali Azamar-Jácome

    2017-06-01

    Full Text Available Background: Oral allergy syndrome (OAS or pollen-fruit syndrome is a type of food allergy. Its characteristics and associated allergens vary according to the studied population. There are few studies in Mexico about this topic, none in children. Objective: To describe clinical and epidemiological characteristics of OAS among children in Mexico. Methods: A descriptive, observational, transversal and prospective study was conducted. We included every patient from 6 to 18 years old with diagnostic suspicion of OAS, in which complete clinical history, skin test to food and pollens, and oral food challenge were performed. Results: We found a prevalence of 5.3% (29 patients: 55% were males. Average age was 10 ± 3 years, and average number of food implicated were 6.8 ± 4.1. Apple, peach and banana, were the most frequent food associated, and sensitization to oak and European privet, the more prevalent pollens found in OAS. Conclusion: OAS is a common type of food allergy, transient and mild in nature. In more than 90% of the cases is associated with allergic rhinitis and sensitization to pollens. In our population, profilins may be involved in its pathogenesis. However, more studies are required to prove this.

  11. Scleroderma of geriatric age and scleroderma-like paraneoplastic syndrome – description of two cases

    Magdalena Marek

    2016-06-01

    Full Text Available Systemic sclerosis (Ssc is an autoimmune connective tissue disease of unknown origin, characterized by progressive fibrosis of the skin and internal organs. Immune reactions taking part in Ssc pathogenesis may contribute to cancer development; therefore patients with risk factors for this disease require observation for a neoplastic process. On the other hand, symptoms of Ssc may be a mask of various cancers. Differentiating between the idiopathic form of Ssc and scleroderma-like paraneoplastic syndrome often causes a lot of difficulties. The article presents two cases of Ssc at the beginning of the disease after 60 years of age. The first case was diagnosed as Ssc, whereas in the second case the defined diagnosis was scleroderma-like syndrome in the course of colorectal cancer. This paper presents an analysis of differential diagnostic procedures which were performed and led to the final diagnosis, mentions types of cancers co-occurring with Ssc and suggests a screening scheme for cancer development in patients with a diagnosis of Ssc.

  12. Brain SPECT of chronic fatigue syndrome (CFS): SPM analysis of two age groups

    Barnden, L.; Casse, R.; Kwiatek, R.; Kitchener, M.; DelFante, P.; Burnet, R.; Behin-Ain, S.; Unger, S.

    2002-01-01

    Full text: Chronic fatigue syndrome (CFS) is a complex disorder characterised by profound fatigue and neuropsychiatric dysfunction. Previous studies with cerebral perfusion SPECT (rCBF) scans were performed with inhomogeneous patient populations and were not analysed with Statistical Parametric Mapping (SPM). We have used SPM to study subjects with moderate CFS based on the Fukuda criteria, who were not on medication and not depressed, compared to age matched control subjects. An apparent bimodal age distribution has been observed in CFS. Subjects were therefore divided into two age groups: 16-35 or under 35 (17 CFS, 11 control) and 36-61 or over 35 (15 CFS, 15 control). HMPAO brain SPECT was acquired on a 3-head camera. After lower window scatter subtraction, reconstruction with attenuation correction (mu=0.15/cm) and editing of facial activity, scans were spatially normalised (affine + 2x3x2 nonlinear) to SPM's anatomical space. SPM statistical analysis yielded the location, amplitude and corrected p-value of significant focal rCBF deficits. They were: for under 35, left lateral temporal lobe (13%, 0.004), the left insular region (15%, 0.006) and the right lentiform nucleus (15%, 0.01); and for over 35 the left lentiform nucleus (18%, 0.01). Counts at the most significant voxel in the under 35 age group permitted separation of the CFS and control groups with sensitivity 94% and specificity 100%. We are acquiring more controls to better define the age and sex dependence of rCBF in CFS. Analysis of associated clinical variables will be used to investigate the observed differences between the two age groups. Copyright (2002) The Australian and New Zealand Society of Nuclear Medicine Inc

  13. Infants with Down syndrome: percentage and age for acquisition of gross motor skills.

    Pereira, Karina; Basso, Renata Pedrolongo; Lindquist, Ana Raquel Rodrigues; da Silva, Louise Gracelli Pereira; Tudella, Eloisa

    2013-03-01

    The literature is bereft of information about the age at which infants with Down syndrome (DS) acquire motor skills and the percentage of infants that do so by the age of 12 months. Therefore, it is necessary to identify the difference in age, in relation to typical infants, at which motor skills were acquired and the percentage of infants with DS that acquire them in the first year of life. Infants with DS (N=20) and typical infants (N=25), both aged between 3 and 12 months, were evaluated monthly using the AIMS. In the prone position, a difference of up to 3 months was found for the acquisition of the 3rd to 16th skill. There was a difference in the percentage of infants with DS who acquired the 10th to 21st skill (from 71% to 7%). In the supine position, a difference of up to one month was found from the 3rd to 7th skill; however, 100% were able to perform these skills. In the sitting position, a difference of 1-4 months was found from the 1st to 12th skill, ranging from 69% to 29% from the 9th to 12th. In the upright position, the difference was 2-3 months from the 3rd to 8th skill. Only 13% acquired the 8th skill and no other skill was acquired up to the age of 12 months. The more complex the skills the greater the difference in age between typical infants and those with DS and the lower the percentage of DS individuals who performed the skills in the prone, sitting and upright positions. None of the DS infants were able to stand without support. Copyright © 2012 Elsevier Ltd. All rights reserved.

  14. Age-Related Normogram for Ovarian Antral Follicle Count in Women with Polycystic Ovary Syndrome and Comparison with Age Matched Controls Using Magnetic Resonance Imaging.

    Aiyappan, Senthil Kumar; Karpagam, Bulabai; Vadanika, V; Chidambaram, Prem Kumar; Vinayagam, S; Saravanan, K C

    2016-01-01

    Antral Follicle count (AFC) is a reliable marker for ovarian reserve. Previous studies have used transvaginal ultrasound for estimation of AFC, however we used magnetic resonance imaging (MRI) for estimation of AFC and for creating an age-related normogram in patients with polycystic ovary syndrome (PCOS) and compared it with normal patients. The aim of this study is to create an age related normogram for AFC in women with PCOS and to compare that with women without polycystic ovarian syndrome using MRI. A total of 1500 women were examined, out of which 400 fitted the criteria for PCOS. They all underwent MRI study and similar age matched women without PCOS also underwent MRI examination. Normogram for AFC were obtained using LMS software and a percentile chart was obtained. Normogram for AFC in PCOS women showed decline in number of AFC as the age progresses and the decline was linear. The normogram for AFC was compared with equal number of patients without PCOS and they also showed decline in AFC as the age progresses, however the decline was exponential and faster. Age related normogram for AFC is widely used and considered as best clinical predictor for ovarian response in assisted reproductive technology. Knowledge of ovarian reserve is important in PCOS and non-PCOS females as PCOS patients are at risk for ovarian hyperstimulation syndrome during gonadotrophin theraphy. MRI is an equally effective and in some times better alternative to transvaginal ultrasound as it has got its own advantages.

  15. [Endothelial dysfunction as a marker of vascular aging syndrome on the background of hypertension, coronary heart disease, gout and obesity].

    Vatseba, M O

    2013-09-01

    Under observation were 40 hypertensive patients with coronary heart disease, gout and obesity I and II degree. Patients with hypertension in combination with coronary heart disease, gout and obesity, syndrome of early vascular aging is shown by increased stiffness of arteries, increased peak systolic flow velocity, pulse blood presure, the thickness of the intima-media complex, higher level endotelinemia and reduced endothelial vasodilation. Obtained evidence that losartan in complex combination with basic therapy and metamaks in complex combination with basic therapy positively affect the elastic properties of blood vessels and slow the progression of early vascular aging syndrome.

  16. Diverse impacts of aging on insulin resistance in lean and obese women with polycystic ovary syndrome: evidence from 1345 women with the syndrome.

    Livadas, Sarantis; Kollias, Anastasios; Panidis, Dimitrios; Diamanti-Kandarakis, Evanthia

    2014-09-01

    Polycystic ovary syndrome (PCOS) represents a moving spectrum of hormonal to metabolic abnormalities, as women with the syndrome are aging. Hormonal abnormalities, anovulation, and hyperandrogenic signs were predominant during the early years of PCOS and fade away with the years. Metabolic abnormalities and insulin resistance (IR) remain throughout the PCOS life cycle; however, it is unclear as to how they change, as women with the syndrome are aging. To evaluate the changes in IR and its associations with clinical, biochemical, hormonal, and ultrasound findings in a large cohort of women with PCOS and controls, as they are aging. A cross-sectional study was carried out to evaluate the diverse impacts of aging on IR. An outpatient clinic was chosen for the study. A total of 1345 women with PCOS (Rotterdam criteria) and 302 controls of Caucasian origin and Greek ethnicity comprised the study group. The impact of age on IR, as calculated using homeostasis model assessment of IR (HOMA-IR) index, and several PCOS characteristics were evaluated. In PCOS, age (-0.045±0.008) was negatively, and BMI positively (0.18±0.007) associated with HOMA-IR (R(2)=0.36). When data were stratified with regard to the BMI status, a negative association of age with HOMA-IR was found in lean, normal, and overweight patients (r: -0.266, -0.233, -0.192, Pwomen (P: 0.202) across age quartiles. Aging increases IR in obese but not in lean and overweight women with PCOS. As BMI and androgens are positively associated with HOMA-IR and androgens decline through time, it appears that if women with PCOS do not become obese they may exhibit a better metabolic profile during their reproductive years. © 2014 European Society of Endocrinology.

  17. Prognostic factors in de novo myelodysplastic syndrome in young and middle-aged people

    Наталья Николаевна Климкович

    2015-01-01

    Full Text Available We spent multivariate analysis of clinical and laboratory parameters for the prediction of de-novo myelodysplastic syndromes (MDS patients aged 18-60 years. The results of clinical application of prognostic systems in MDS show that there is a large variability within individual risk groups, especially at low-risk MDS. So now hematologists conduct research aimed at identifying additional adverse risk MDS. This is done so that patients with low-risk MDS embodiments and unfavorable prognosis could benefit from early therapeutic intervention, and not only be clinician monitored until disease progression. We found that additional adverse risk factors for the development of MDS are the expression of CD95 in bone marrow ≤40 % and FLT3≥60 %. The expression level of CD95 in bone marrow cells≤40 % and FLT3≥60 % can be considered as a prognostic marker progression of MDS and time start specific therapy

  18. Using micronized progesterone for treatment of premenopausal age women suffering from severe premenstrual syndrome

    Horbatiuk Olha

    2017-09-01

    Full Text Available In this study, we carried out the clinical and laboratory research of severe PMS (premenstrual syndrome treatment in premenopausal age women. Herein, 37 women were examined and observed before the beginning of treatment and three months after it. Medication containing micronized progesterone was used for treatment (sublingually, 100 mg from 11 to 25 days of menstrual cycle. After three months of micronized progesterone treatment, 86.5% of all women-participants of the study were observed to have full regression of clinical symptoms, while 13.5% of all patients were observed to have decrease in clinical symptoms of severe PMS. Moreover, hormonal research results revealed significant (1.3 times decrease in LH (Luteinizing hormone level and (1.3 times increase in progesterone level after three months of treatment (р<0.05. The high bio-accessibility of the medication and its natural structure made it possible to decrease the dose and avoid risks of hepatotoxicity.

  19. Perceived childhood paternal acceptance-rejection among adults

    Hussain, S.; Alvi, T.; Zeeshan, A.; Nadeem, S.

    2013-01-01

    Objective: To determine the childhood perceptual difference of paternal acceptance-rejection between those having psychological disorders and non-clinical population during adulthood. Study Design: Comparative study. Place and Duration of Study: Karwan-e-Hayat, Psychiatric Care and Rehabilitation Centre, Keamari, Karachi, Pakistan, from January to August 2011. Methodology: To test our hypotheses, 69 participants were selected from Karwan-e-Hayat Psychiatric Care and Rehabilitation Centre, Karachi on the basis of purposive sampling technique and 79 from Karachi city on the basis of convenient sampling technique. To measure their perceived paternal acceptance-rejection during childhood, Adult Parental acceptance-rejection questionnaire (PARQ)/control: father-short form (Urdu translation) was administered. The statistical analysis of data was done with the predictive analytics software (PASW). Results: One hundred and forty eight (78 males and 70 females) participants with mean age of 31.28 +- 9.54 years were included. Out of them 69 (40 males and 29 females) were clinical cases of depression, mania and psychosis with mean age of 33.26 +- 9.51 years. Seventy nine (38 males and 41 females) were normal individuals with mean age of 29.54 +- 9.29 years of the demographics corresponding to the clinical population. Independent t-test revealed a significant difference in perceived childhood father acceptance-rejection between clinical and non-clinical population (p < 0.05) and significant gender difference (p < 0.05). Conclusion: The studied clinical population and male participants perceived to be more rejected by their father during their childhood than non-clinical population and female participants. (author)

  20. Characteristics of Adults with Down Syndrome: prevalence of age-related conditions

    Angelo eCarfì

    2014-12-01

    Full Text Available Introduction. In the last decades, life expectancy of persons with Down syndrome (DS has dramatically increased and it is estimated that they will be living as long as the general population within a generation. Despite being included among the progeroid syndromes, because of the presence of features typically observed in older adults, DS is still regarded as a disease of pediatric interest. Because limited knowledge is available on the clinical characteristics of adults with DS, this study aimed to assess clinical and non-clinical features of this population and to describe similarities to the geriatric population. Methods. In this study, we described 60 adults with DS evaluated at the Day Hospital of the Geriatric Department of the Policlinico A. Gemelli, Università Cattolica del Sacro Cuore in Rome. Individuals were assessed through a standardized protocol. Results. The mean age of study participants was 38 years (range, 18 to 58 years and 42 (70.0% were women. Geriatric conditions were highly prevalent: severe cognitive impairment was diagnosed in 39 (65.0% participants, behavioral symptoms were present in 25 (41.7% and functional impairment in 23 (38.3%. Six (10.0% participants lived in institutions and 11 (18.3% were diagnosed as obese. The mean number of drugs used was 2.4; use of psychotropic drugs was highly prevalent. The most common chronic diseases were thyroid problems (44, 73.3%, followed by mood disorders (19, 31.7%, osteoporosis (18, 30.0% and cardiac problems (10, 16.7%. Geriatric conditions and chronic diseases were more prevalent among participants aged ≥40 years. Conclusions. Several similarities between older adults and adults with DS were observed. Comorbidities, geriatric conditions, cognitive and functional deficits and social problems are highly prevalent in both populations, contributing to the high complexity of these patients’ assessment and treatment.

  1. Large-scale parent–child comparison confirms a strong paternal influence on telomere length

    Nordfjäll, Katarina; Svenson, Ulrika; Norrback, Karl-Fredrik; Adolfsson, Rolf; Roos, Göran

    2009-01-01

    Telomere length is documented to have a hereditary component, and both paternal and X-linked inheritance have been proposed. We investigated blood cell telomere length in 962 individuals with an age range between 0 and 102 years. Telomere length correlations were analyzed between parent–child pairs in different age groups and between grandparent–grandchild pairs. A highly significant correlation between the father's and the child's telomere length was observed (r=0.454, P

  2. The Point of View of Pathophysiologist-Endocrinologist on the Problem of Age-Related Androgen Deficiency in Men (LOH-Syndrome

    A.G. Reznikov

    2014-09-01

    Full Text Available The paper presents a pathophysiological analysis of age-related androgen deficiency syndrome in men (LOH-syndrome with special reference to current knowledge of molecular mechanisms of testosterone effects and androgen regulation of the structure and function of organs and systems of the male body. There is emphasized etiological and pathogenetic role of stress in this pathology. There is presented author’s concept of cause-effect relations between chronic stress, metabolic syndrome and LOH-syndrome.

  3. Maternal and Paternal Psychological Control as Moderators of the Link between Peer Attitudes and Adolescents' Risky Sexual Behavior.

    Oudekerk, Barbara A; Allen, Joseph P; Hafen, Christopher A; Hessel, Elenda T; Szwedo, David E; Spilker, Ann

    2014-05-01

    Maternal and paternal psychological control, peer attitudes, and the interaction of psychological control and peer attitudes at age 13 were examined as predictors of risky sexual behavior before age 16 in a community sample of 181 youth followed from age 13 to 16. Maternal psychological control moderated the link between peer attitudes and sexual behavior. Peer acceptance of early sex predicted greater risky sexual behaviors, but only for teens whose mothers engaged in high levels of psychological control. Paternal psychological control demonstrated the same moderating effect for girls; for boys, however, high levels of paternal control predicted risky sex regardless of peer attitudes. Results are consistent with the theory that peer influences do not replace parental influences with regard to adolescent sexual behavior; rather, parental practices continue to serve an important role either directly forecasting sexual behavior or moderating the link between peer attitudes and sexual behavior.

  4. Maternal and Paternal Psychological Control as Moderators of the Link between Peer Attitudes and Adolescents’ Risky Sexual Behavior

    Oudekerk, Barbara A.; Allen, Joseph P.; Hafen, Christopher A.; Hessel, Elenda T.; Szwedo, David E.; Spilker, Ann

    2013-01-01

    Maternal and paternal psychological control, peer attitudes, and the interaction of psychological control and peer attitudes at age 13 were examined as predictors of risky sexual behavior before age 16 in a community sample of 181 youth followed from age 13 to 16. Maternal psychological control moderated the link between peer attitudes and sexual behavior. Peer acceptance of early sex predicted greater risky sexual behaviors, but only for teens whose mothers engaged in high levels of psychological control. Paternal psychological control demonstrated the same moderating effect for girls; for boys, however, high levels of paternal control predicted risky sex regardless of peer attitudes. Results are consistent with the theory that peer influences do not replace parental influences with regard to adolescent sexual behavior; rather, parental practices continue to serve an important role either directly forecasting sexual behavior or moderating the link between peer attitudes and sexual behavior. PMID:25328265

  5. Cultural syndromes and age moderate the emotional impact of illness intrusiveness in rheumatoid arthritis.

    Devins, Gerald M; Gupta, Anita; Cameron, Jill; Woodend, Kirsten; Mah, Kenneth; Gladman, Dafna

    2009-02-01

    The authors investigated cultural syndromes (multidimensional vectors comprising culturally based attitudes, values, and beliefs) and age as moderators of the emotional impact of illness intrusiveness--illness-induced lifestyle disruptions--in rheumatoid arthritis (RA) and examined illness intrusiveness effects in total and separately for three life domains (relationships and personal development, intimacy, and instrumental). People with RA (n = 105) completed the Illness Intrusiveness Ratings, Individualism-Collectivism, and Center for Epidemiologic Studies--Depression scales in a one-on-one interview. Controlling for disease and background characteristics, the association between illness intrusiveness (total score and the Relationships and Personal Development subscale) and distress was inverse when young adults with RA endorsed high horizontal individualism. Illness intrusiveness into intimacy was associated with increased distress, and this intensified when respondents endorsed high vertical individualism, horizontal collectivism, vertical collectivism, or low horizontal individualism. The negative emotional impact of illness intrusiveness into intimacy diminished with increasing age. Given an aging and increasingly pluralistic society, diversity can no longer be ignored in addressing the psychosocial impact of chronic, disabling disease.

  6. Prevalence and sociodemographic correlates of metabolic syndrome in school-aged children and their parents in nine Mesoamerican countries.

    Villamor, Eduardo; Finan, Caitlin C; Ramirez-Zea, Manuel; Roman, Ana Victoria

    2017-02-01

    To ascertain the prevalence and sociodemographic correlates of cardiometabolic risk factors in adults and school-aged children from Mesoamerica. Cross-sectional study with convenience sampling. In adults, metabolic syndrome was defined according to the National Cholesterol Education Program's Adult Treatment Panel III (ATP III) criteria. In children, we calculated a continuous sex- and age-standardized metabolic risk score using variables corresponding to adult ATP III criteria. Metabolic syndrome prevalence in adults and risk score distribution in children were compared across levels of sociodemographic characteristics with use of Poisson and linear regression, respectively. Capital cities of Guatemala, El Salvador, the Dominican Republic, Honduras, Nicaragua, Panama, Costa Rica, the Mexican State of Chiapas (Tuxtla Gutiérrez city) and Belize. Families (n 267), comprising one child aged 7-12 years and their biological parents. The prevalence of metabolic syndrome was 37·9 % among women and 35·3 % among men. The most common component was low HDL cholesterol, 83·3 % in women and 78·9 % in men. Prevalence was positively associated with age. In women, metabolic syndrome was inversely related to education level whereas in men it was positively associated with household food security and height, after adjustment. The metabolic risk score in children was inversely related to parental height, and positively associated with height-for-age and with having parents with the metabolic syndrome. Metabolic syndrome is highly prevalent in Mesoamerica. The burden of metabolic risk factors disproportionately affects women and children of lower socio-economic status and men of higher socio-economic status.

  7. Ageing of people with Down's syndrome: a systematic literature review from 2000 to 2014.

    Covelli, Venusia; Raggi, Alberto; Meucci, Paolo; Paganelli, Chiara; Leonardi, Matilde

    2016-03-01

    Life expectancy of people with Down's syndrome (DS) has increased considerably, now exceeding 60 years. People with DS start to get old around the age of 45. By referring to the WHO's International Classification of Functioning, Disability and Health (ICF) biopsychosocial perspective, this study aimed to present an up-to-date review of the past 14 years of literature concerning the ageing of people with DS. PUBMED, PsycInfo and the Social Sciences Citation Index were searched for studies published between 2000 and 2014. Studies were selected if they were written in English, focused on people more than 45 years of age with DS, and if terms related to DS and ageing appeared in either the title or the abstract. A total of 30 studies were retrieved and their meaningful concepts were linked to the ICF. In total, 38 ICF categories were identified that were mainly related to intellectual functions (b117) (19%), general metabolic functions (b540) (7.4%), mobility of joint functions (b710), muscle power functions (b730) (4.2%), gait pattern functions (b770) (4.2%) and structure of the brain (s110) (4.3%). Only two studies considered environmental factors, and only one considered the joint analysis of health condition and environmental factors. Data about the ageing of people with DS are predominantly based on medical evaluations and descriptions of their physical impairments. Few attempts have been made towards a comprehensive assessment of elderly people with DS with a joint analysis of their health condition and its interaction with environmental factors.

  8. Impact of sleep on executive functioning in school-age children with Down syndrome.

    Esbensen, A J; Hoffman, E K

    2018-06-01

    Sleep problems have an impact on executive functioning in the general population. While children with Down syndrome (DS) are at high risk for sleep problems, the impact of these sleep problems on executive functioning in school-age children with DS is less well documented. Our study examined the relationship between parent-reported and actigraphy-measured sleep duration and sleep quality with parent and teacher reports and neuropsychology assessments of executive functioning among school-age children with DS. Thirty school-age children with DS wore an actigraph watch for a week at home at night. Their parent completed ratings of the child's sleep during that same week. Children completed a neuropsychology assessment of their inhibitory control, ability to shift and working memory. Their parents and teachers completed rating scales to assess these same constructs of executive functioning. Parent reports of restless sleep behaviours on the Children's Sleep Habits Questionnaire (CSHQ), but not actigraph-measured sleep period or efficiency, were predictive of parent reports of concerns with inhibitory control, shifting and working memory, and of teacher reports of inhibitory control. No measure of sleep was predictive of executive functioning as measured by the neuropsychology assessment. The study findings corroborate the preliminary literature that parent-reported sleep problems are related to executive functioning in school-age children with DS, particularly in the area of inhibitory control across home and school. These findings have implications for understanding contributing factors to academic performance and school behaviour in school-age children with DS. © 2018 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  9. I Want to but I Won't: Pluralistic Ignorance Inhibits Intentions to Take Paternity Leave in Japan

    Takeru Miyajima

    2017-09-01

    Full Text Available The number of male employees who take paternity leave in Japan has been low in past decades. However, the majority of male employees actually wish to take paternity leave if they were to have a child. Previous studies have demonstrated that the organizational climate in workplaces is the major determinant of male employees' use of family-friendly policies, because males are often stigmatized and fear receiving negative evaluation from others. While such normative pressure might be derived from prevailing social practices relevant to people's expectation of social roles (e.g., “Men make houses, women make homes”, these social practices are often perpetuated even after the majority of group members have ceased to support them. The perpetuation of this unpopular norm could be caused by the social psychological phenomenon of pluralistic ignorance. While researches have explored people's beliefs about gender roles from various perspectives, profound understanding of these beliefs regarding gender role norms, and the accuracy of others' beliefs remains to be attained. The current research examined the association between pluralistic ignorance and the perpetually low rates of taking paternity leave in Japan. Specifically, Study 1 (n = 299 examined Japanese male employees' (ages ranging from the 20 s to the 40 s attitudes toward paternity leave and to estimate attitudes of other men of the same age, as well as behavioral intentions (i.e., desire and willingness to take paternity leave if they had a child in the future. The results demonstrated that male employees overestimated other men's negative attitudes toward paternity leave. Moreover, those who had positive attitudes toward taking leave and attributed negative attitudes to others were less willing to take paternity leave than were those who had positive attitudes and believed others shared those attitudes, although there was no significant difference between their desires to take paternity

  10. I Want to but I Won't: Pluralistic Ignorance Inhibits Intentions to Take Paternity Leave in Japan.

    Miyajima, Takeru; Yamaguchi, Hiroyuki

    2017-01-01

    The number of male employees who take paternity leave in Japan has been low in past decades. However, the majority of male employees actually wish to take paternity leave if they were to have a child. Previous studies have demonstrated that the organizational climate in workplaces is the major determinant of male employees' use of family-friendly policies, because males are often stigmatized and fear receiving negative evaluation from others. While such normative pressure might be derived from prevailing social practices relevant to people's expectation of social roles (e.g., "Men make houses, women make homes"), these social practices are often perpetuated even after the majority of group members have ceased to support them. The perpetuation of this unpopular norm could be caused by the social psychological phenomenon of pluralistic ignorance. While researches have explored people's beliefs about gender roles from various perspectives, profound understanding of these beliefs regarding gender role norms, and the accuracy of others' beliefs remains to be attained. The current research examined the association between pluralistic ignorance and the perpetually low rates of taking paternity leave in Japan. Specifically, Study 1 ( n = 299) examined Japanese male employees' (ages ranging from the 20 s to the 40 s) attitudes toward paternity leave and to estimate attitudes of other men of the same age, as well as behavioral intentions (i.e., desire and willingness) to take paternity leave if they had a child in the future. The results demonstrated that male employees overestimated other men's negative attitudes toward paternity leave. Moreover, those who had positive attitudes toward taking leave and attributed negative attitudes to others were less willing to take paternity leave than were those who had positive attitudes and believed others shared those attitudes, although there was no significant difference between their desires to take paternity leave. Study 2 ( n

  11. The influence of fathers' socioeconomic status and paternity leave on breastfeeding duration: a population-based cohort study.

    Flacking, Renée; Dykes, Fiona; Ewald, Uwe

    2010-06-01

    The propensity to breastfeed is a matter of public concern because of the favourable effects for infants. However, very few studies have described the influence of paternal variables upon duration of breastfeeding. The aim of this study was to describe the effects of fathers' socioeconomic status and their use of paternity leave on breastfeeding duration for infants up to 1 year of age. A prospective population-based cohort study was undertaken. Data on breastfeeding, registered in databases in two Swedish counties for 1993-2001, were matched with data on socioeconomic status and paternity leave obtained from Statistics Sweden. Fathers of 51,671 infants were identified and included. Infants whose fathers had a lower level of education, were receiving unemployment benefit and/or had a lower equivalent disposable household income were significantly less likely to be breastfed at 2, 4, 6, 9, and 12 months of age. Infants whose fathers did not take paternity leave during the infant's first year were significantly less likely to be breastfed at 2 (p paternity leave, may have beneficial effects on breastfeeding up to 6 months of age. A more systematic approach to supporting fathers' involvement may be particularly valuable to those infants whose fathers have a lower socioeconomic status.

  12. Non-alcoholic fatty liver disease and metabolic syndrome in Brazilian middle-aged and older adults

    Mauro Karnikowski

    Full Text Available CONTEXT AND OBJECTIVES: Non-alcoholic fatty liver disease (NAFLD is a complex clinicopathological entity characterized by diffuse or focal fat accumulation in the hepatic parenchyma of patients who deny abusive alcohol consumption. This study aimed to assess idiopathic NAFLD in community-dwelling, middle-aged and older adults living in the Brazilian Federal District. Associations between NAFLD and components of metabolic syndrome and the whole syndrome were investigated. DESIGN AND SETTINGS: This was a cross-sectional study on 139 subjects aged 55 years or older. METHODS: NAFLD was diagnosed by means of clinical procedures, to exclude subjects with signs of liver disorders, abusive alcohol consumption and influence from hepatotoxic drugs. Phenotypes were graded based on ultrasound examination. Metabolic syndrome was defined using the NCEP ATP III criteria. Laboratory tests were performed to assist clinical examinations and define the syndrome. RESULTS NAFLD was present in 35.2% of the subjects. Taken together, the two most intense phenotypes correlated with increased serum fasting glucose, triglyceride and VLDL cholesterol levels. Metabolic syndrome was diagnosed in 25.9% of the sample. In addition to associating NAFLD with specific traits of metabolic syndrome, non-parametric analysis confirmed the existence of a relationship (p < 0.05 between the steatotic manifestation and the syndromic condition. CONCLUSION: Compared with the literature, this study reveals greater frequency of idiopathic NAFLD among Brazilian middle-aged and older adults than is described elsewhere. The findings also suggest that impaired glycemic metabolism coupled with increased fat delivery and/or sustained endogenous biosynthesis is the most likely physiopathogenic mechanisms underlying the onset of NAFLD in this population.

  13. ["Paternity leave"? Retrospective view on a delayed reform of maternity leave in Austria].

    Munz, R

    1984-01-01

    Only 1 of 3 Austrian fathers involves himself daily in child rearing, and the younger the children, the less likely he is to be involved. Austria is among those European countries with the greatest pregnancy benefits. New mothers may take up to 1 year of paid maternity leave without fear of losing their jobs. This article uses 1982 Institute of Demography survey data to determine support for similar paternity leave for fathers. In the last few years, both Social Democrat and Conservative women have worked for this leave, although the movement has also found opposition by women in trade unions, as well as from conservative groups. Survey results show that 46% of married Austrian women, under age 40, favor paternity leave; 1 or 4 women can imagine their husbands taking such leave. Among husbands, 34% favored the leave option, and 1 of 4 could imagine taking the leave for a least part of the baby's first year. The study attempts to identify those husbands most likely to take advantage of paternity leave. At present, most men will not choose to stay with their children at the expense of earnings reduction. Compensation reforms for both mothers and fathers must first occur before men and women in a position to make real decisions on maternity and paternity leave.

  14. Relationship between dental caries and metabolic syndrome among 13 998 middle-aged urban Chinese.

    Cao, Xia; Wang, Dongliang; Zhou, Jiansong; Yuan, Hong; Chen, Zhiheng

    2017-04-01

    The association between dental caries and metabolic syndrome (MetS) is inconsistent. The aim of the present study was to assess the relationship between dental caries and MetS and its components in a middle-aged Chinese population. A cross-sectional analysis was performed of 13 998 participants aged 45-65 years undergoing a health check during 2013-14. An index variable of decayed, missing, and filled teeth (DMFT) was calculated. Logistic regression was used to estimate odds ratios (ORs) and 95 % confidence intervals (CIs) after adjustment for sex, age, education level, dietary habits, alcohol use, smoking, physical activity, and periodontitis. Of the 13 998 participants, 6164 had dental caries and 7834 did not; 3571 had MetS, whereas 10 427 did not. Participants with severe caries showed a higher prevalence of MetS, abdominal obesity, elevated blood pressure, dyslipidemia, and hyperglycemia than those with mild or no caries (all P dental caries and those with two or more DMFT were 1.12 (95 % CI 1.14-1.74) and 1.09 (95 % CI, 0.89-1.21), respectively (P trend  caries were associated with MetS among subjects with hyperglycemia (OR 1.14 [95%CI, 0.98-1.34]; P caries and abdominal obesity, hypertriglyceridemia, low high-density lipoprotein cholesterol, and elevated blood pressure (adjusted ORs [95 % CIs] 0.98 [0.82-1.16], 1.01 [0.85-1.19], 0.84 [0.70-1.00], and 0.96 [0.86-1.13], respectively; all P > 0.05). Dental caries were associated with MetS among middle-aged Chinese in the present study. © 2016 Ruijin Hospital, Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd.

  15. Visual pathway function and structure in Wolfram syndrome: patient age, variation and progression.

    Hoekel, James; Narayanan, Anagha; Rutlin, Jerrel; Lugar, Heather; Al-Lozi, Amal; Hershey, Tamara; Tychsen, Lawrence

    2018-01-01

    To report alterations in visual acuity and visual pathway structure over an interval of 1-3 years in a cohort of children, adolescents and young adults who have Wolfram syndrome (WFS) and to describe the range of disease severity evident in patients with WFS whose ages differed by as much as 20 years at first examination. Annual, prospective ophthalmological examinations were performed in conjunction with retinal nerve fibre layer (RNFL) analysis. Diffusion tensor MRI-derived fractional anisotropy was used to assess the microstructural integrity of the optic radiations (OR FA). Mean age of the 23 patients with WFS in the study was 13.8 years (range 5-25 years). Mean log minimum angle resolution visual acuity was 0.66 (20/91). RNFL thickness was subnormal in even the youngest patients with WFS. Average RNFL thickness in patients with WFS was 57±8 µ or ~40% thinner than that measured in normal (94±10 µ) children and adolescents (P<0.01). Lower OR FA correlated with worse visual acuity (P=0.006). Subsequent examinations showed declines (P<0.05) in visual acuity, RNFL thickness and OR FA at follow-up intervals of 12-36 months. However, a wide range of disease severity was evident across ages: some of the youngest patients at their first examination had deficits more severe than the oldest patients. The genetic mutation of WFS causes damage to both pregeniculate and postgeniculate regions of the visual pathway. The damage is progressive. The decline in visual pathway structure is accompanied by declines of visual function. Disease severity differs widely in individual patients and cannot be predicted from their age.

  16. [Clinical psychophysiological markers of maladaptive neuropsychic conditions in polyclinic doctors of old and middle age with professional burnout syndrome].

    Parfenov, Iu A

    2012-01-01

    The article presents the actual in modern medicine problem of professional burnout of polyclinic doctors of middle and elderly age. It is shown that the specificity of the polyclinic doctors' activity provokes the formation of professional burnout syndrome, paired with maladaptive neuro-psychic conditions. We studied the prevalence of this syndrome in polyclinic doctors of middle age and older; its specific versions among the middle-aged doctors were defined, where the level of burnout is associated with aggressive tendencies, and the elderly doctors, where professional burnout is associated with the instability of affective response. Pathogenic markers of compensatory redistribution of information saturation of indicators of electroencephalography to the occipital cortex at professional burnout in polyclinic doctors of the elderly age, reflecting the involution processes in prefrontal areas of the cerebral cortex of the brain were identified.

  17. Comparison of Conditioning Impairments in Children with Down Syndrome, Autistic Spectrum Disorders and Mental Age-Matched Controls

    Reed, P.; Staytom, L.; Stott, S.; Truzoli, R.

    2011-01-01

    Background: This study investigated the relative ease of learning across four tasks suggested by an adaptation of Thomas's hierarchy of learning in children with Down syndrome, autism spectrum disorders and mental age-matched controls. Methods: Learning trials were carried out to investigate observational learning, instrumental learning, reversal…

  18. Contributions of maternal and paternal adiposity and smoking to adult offspring adiposity and cardiovascular risk: the Midspan Family Study.

    Han, T S; Hart, C L; Haig, C; Logue, J; Upton, M N; Watt, G C M; Lean, M E J

    2015-11-02

    Obesity has some genetic basis but requires interaction with environmental factors for phenotypic expression. We examined contributions of gender-specific parental adiposity and smoking to adiposity and related cardiovascular risk in adult offspring. Cross-sectional general population survey. Scotland. 1456 of the 1477 first generation families in the Midspan Family Study: 2912 parents (aged 45-64 years surveyed between 1972 and 1976) who had 1025 sons and 1283 daughters, aged 30-59 years surveyed in 1996. Offspring body mass index (BMI), waist circumference (WC), cardiometabolic risk (lipids, blood pressure and glucose) and cardiovascular disease as outcome measures, and parental BMI and smoking as determinants. All analyses adjusted for age, socioeconomic status and family clustering and offspring birth weight. Regression coefficients for BMI associations between father-son (0.30) and mother-daughter (0.33) were greater than father-daughter (0.23) or mother-son (0.22). Regression coefficient for the non-genetic, shared-environment or assortative-mating relationship between BMIs of fathers and mothers was 0.19. Heritability estimates for BMI were greatest among women with mothers who had BMI either parents, offspring with two obese parents had adjusted OR of 10.25 (95% CI 6.56 to 13.93) for having WC ≥102 cm for men, ≥88 cm women, 2.46 (95% CI 1.33 to 4.57) for metabolic syndrome and 3.03 (95% CI 1.55 to 5.91) for angina and/or myocardial infarct (pparental adiposity nor smoking history determined adjusted offspring individual cardiometabolic risk factors, diabetes or stroke. Maternal, but not paternal, smoking had significant effects on WC in sons (OR=1.50; 95% CI 1.13 to 2.01) and daughters (OR=1.42; 95% CI 1.10 to 1.84) and metabolic syndrome OR=1.68; 95% CI 1.17 to 2.40) in sons. There are modest genetic/epigenetic influences on the environmental factors behind adverse adiposity. Maternal smoking appears a specific hazard on obesity and metabolic

  19. Problems with the language development in children with Down syndrome aged 5-7 years

    Mustaf Morina

    2016-07-01

    Full Text Available This study aims to explore and investigate the linguistic developments regarding children with Down syndrome. The study was conducted by interviewing children with Down syndrome. The study shows many problems with these children associated with difficulties with the reasoning attention, imitation, routines, and language development of children with Down syndrome, such as, speech problem, a problem related to pronunciation, sound or voice. This study uses the (Inductive and Qualitative primary research (deductive method with six case studies of children with Down syndrome, being induced on the Problems and difficulties of children with the Down syndrome in the field of language development.

  20. Small for Gestational Age and Magnesium: Intrauterine magnesium deficiency may induce metabolic syndrome in later life

    Junji Takaya

    2015-12-01

    Full Text Available Magnesium deficiency during pregnancy as a result of insufficient or low intake of magnesium is common in developing and developed countries. Previous reports have shown that intracellular magnesium of cord blood platelets is lower among small for gestational age (SGA groups than that of appropriate for gestational age (AGA groups, suggesting that intrauterine magnesium deficiency may result in SGA. Additionally, the risk of adult-onset diseases such as insulin resistance syndrome is greater among children whose mothers were malnourished during pregnancy, and who consequently had a low birth weight. In a number of animal models, poor nutrition during pregnancy leads to offspring that exhibit pathophysiological changes similar to human diseases. The offspring of pregnant rats fed a magensium restricted diet have developed hypermethylation in the hepatic 11β-hydroxysteroid dehydrogenase-2 promoter. These findings indicate that maternal magnesium deficiencies during pregnancy influence regulation of non-imprinted genes by altering the epigenetic regulation of gene expression, thereby inducing different metabolic phenotypes. Magnesium deficiency during pregnancy may be responsible for not only maternal and fetal nutritional problems, but also lifelong consequences that affect the offspring throughout their life. Epidemiological, clinical, and basic research on the effects of magnesium deficiency now indicates underlying mechanisms, especially epigenetic processes.

  1. Vitamin E in aging persons with Down syndrome: A randomized, placebo-controlled clinical trial.

    Sano, Mary; Aisen, Paul S; Andrews, Howard F; Tsai, Wei-Yann; Lai, Florence; Dalton, Arthur J

    2016-05-31

    To determine whether vitamin E would slow the progression of cognitive deterioration and dementia in aging persons with Down syndrome (DS). A randomized, double-blind controlled clinical trial was conducted at 21 clinical sites, and researchers trained in research procedures recruited adults with DS older than 50 years to participate. Participants were randomly assigned to receive 1,000 IU of vitamin E orally twice daily for 3 years or identical placebo. The primary outcome was change on the Brief Praxis Test (BPT). Secondary outcomes included incident dementia and measures of clinical global change, cognition, function, and behavior. A total of 337 individuals were randomized, 168 to vitamin E and 169 to placebo. Both groups demonstrated deterioration on the BPT with no difference between drug and placebo. At baseline, 26% were diagnosed with dementia and there was an overall rate of incident dementia of 11%/year with no difference between groups. There was no effect on the secondary outcome measures. Though numerically higher in the treatment group, there was no difference in the number of adverse events (p = 0.079) and deaths (p = 0.086) between groups. Vitamin E did not slow the progression of cognitive deterioration in older individuals with DS. This study provides Class II evidence that vitamin E does not significantly slow the progression of cognitive deterioration in aging persons with DS. © 2016 American Academy of Neurology.

  2. Gender difference of metabolic syndrome and its association with dietary diversity at different ages.

    Tian, Xu; Xu, Xiaohui; Zhang, Kai; Wang, Hui

    2017-09-26

    Previous research indicated that dietary diversity had favorable association with metabolic syndrome (MetS), and it has not been investigated in China. Adults (aged 18+) with complete dietary and biochemical data were collected from 2009 China Health and Nutrition Survey ( n =4308). Dietary diversity was measured by modified Dietary Diversity Score (DDS). MetS was defined by the harmonized criteria. The association between DDS and MetS was investigated by multivariable adjusted logistic regression. An inverse-U shape relationship between MetS risk and age was detected for both genders, and female were more vulnerable than male at old times. More diversified diet decreased the risk of MetS for young female (≥18 & ≤45), similar trends were detected in serum TGs, abdominal adiposity, blood pressure, and fasting blood glucose (all P 60) and male adults (>45&≤60). Greater DDS was associated with higher serum TGs, and lower HDL-C level for male adults, higher blood pressure for old men, but lower blood pressure and fasting blood glucose in young men (all P <0.05). Male adults and old female had the highest risk of getting MetS. More diversified diet decreased MetS risk for young female, but increased the risk for male adults and old female.

  3. Blood omega-3 and trans fatty acids in middle-aged acute coronary syndrome patients.

    Harris, William S; Reid, Kimberly J; Sands, Scott A; Spertus, John A

    2007-01-15

    We tested the hypothesis that lower blood omega-3 (omega-3) fatty acids (FAs) and/or higher trans FAs are associated with the risk of an acute coronary syndrome (ACS). Higher levels of omega-3 FA have been associated with decreased risk of sudden cardiac death. However, their association with ACS risk is unclear. Although higher self-reported intakes of trans FAs have been linked to increased coronary risk, the association between blood levels of trans FA and ACS risk is also unknown. We analyzed the FA composition of whole blood from 94 subjects with ACS and 94 age-, gender-, and race-matched controls. Omega-3 and trans FA associations with ACS were assessed using multivariable models after adjusting for smoking status, alcohol use, diabetes, body mass index, serum lipids, and history of myocardial infarction or revascularization. Subjects' mean age was 47 years, 54% were men, and 80% were Caucasian. Whole blood long-chain omega-3 FA (eicosapentaenoic acid [EPA] plus docosahexaenoic acid [DHA]) content was 29% lower in patients than in controls (1.7 +/- 0.9% vs 2.4 +/- 1.4%, p ACS, but higher blood trans FA content is not. Blood EPA + DHA may serve as a new, modifiable risk factor for ACS.

  4. Polycystic Ovary Syndrome: Important Underrecognised Cardiometabolic Risk Factor in Reproductive-Age Women

    Baldani, Dinka Pavicic; Skrgatic, Lana; Ougouag, Roya

    2015-01-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disorder amongst women of reproductive age. Although PCOS is diagnosed exclusively based on reproductive criteria, it is also a metabolic disorder. Insulin resistance, impaired glucose tolerance, type 2 diabetes mellitus, obesity, and dyslipidemia are more common in women with PCOS than in age-comparable women without PCOS. Many of the metabolic abnormalities that manifest in PCOS are worsened by the concurrent incidence of obesity. However, some of these metabolic perturbations occur even in lean women with PCOS and therefore are rightfully recognized as intrinsic to PCOS. The intrinsic factors that produce these metabolic disturbances are reviewed in this paper. The consequences of obesity and the other metabolic aberrations are also discussed. The metabolic perturbations in PCOS patients lead to chronic low-grade inflammation and to cardiovascular impairments that heighten the risk of having cardiovascular disease. Even though many studies have shown an elevation in surrogate biomarkers of cardiovascular disease in PCOS women, it is still not clear to what extent and magnitude the elevation precipitates more frequent and earlier events. PMID:26124830

  5. Polycystic Ovary Syndrome: Important Underrecognised Cardiometabolic Risk Factor in Reproductive-Age Women

    Dinka Pavicic Baldani

    2015-01-01

    Full Text Available Polycystic ovary syndrome (PCOS is the most common endocrine disorder amongst women of reproductive age. Although PCOS is diagnosed exclusively based on reproductive criteria, it is also a metabolic disorder. Insulin resistance, impaired glucose tolerance, type 2 diabetes mellitus, obesity, and dyslipidemia are more common in women with PCOS than in age-comparable women without PCOS. Many of the metabolic abnormalities that manifest in PCOS are worsened by the concurrent incidence of obesity. However, some of these metabolic perturbations occur even in lean women with PCOS and therefore are rightfully recognized as intrinsic to PCOS. The intrinsic factors that produce these metabolic disturbances are reviewed in this paper. The consequences of obesity and the other metabolic aberrations are also discussed. The metabolic perturbations in PCOS patients lead to chronic low-grade inflammation and to cardiovascular impairments that heighten the risk of having cardiovascular disease. Even though many studies have shown an elevation in surrogate biomarkers of cardiovascular disease in PCOS women, it is still not clear to what extent and magnitude the elevation precipitates more frequent and earlier events.

  6. Polycystic Ovary Syndrome: Important Underrecognised Cardiometabolic Risk Factor in Reproductive-Age Women.

    Baldani, Dinka Pavicic; Skrgatic, Lana; Ougouag, Roya

    2015-01-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disorder amongst women of reproductive age. Although PCOS is diagnosed exclusively based on reproductive criteria, it is also a metabolic disorder. Insulin resistance, impaired glucose tolerance, type 2 diabetes mellitus, obesity, and dyslipidemia are more common in women with PCOS than in age-comparable women without PCOS. Many of the metabolic abnormalities that manifest in PCOS are worsened by the concurrent incidence of obesity. However, some of these metabolic perturbations occur even in lean women with PCOS and therefore are rightfully recognized as intrinsic to PCOS. The intrinsic factors that produce these metabolic disturbances are reviewed in this paper. The consequences of obesity and the other metabolic aberrations are also discussed. The metabolic perturbations in PCOS patients lead to chronic low-grade inflammation and to cardiovascular impairments that heighten the risk of having cardiovascular disease. Even though many studies have shown an elevation in surrogate biomarkers of cardiovascular disease in PCOS women, it is still not clear to what extent and magnitude the elevation precipitates more frequent and earlier events.

  7. Noninvasive treatment choice for an aged down syndrome patient presenting a residual periapical cyst.

    Sperandio, Felipe Fornias; Carli, Marina Lara de; Guimaräes, Eduardo Pereira; Pereira, Alessandro Antônio Costa; Hanemann, Joäo Adolfo Costa

    2014-03-01

    This is the first report to illustrate the marsupialization as an effective treatment for a Down Syndrome (DS) patient presenting a residual periapical cyst. These cysts occur within the alveolar ridge, usually at the local site of a previously extracted tooth that did not received proper curettage; usually the surgical excision of a cyst and also the vigorous curettage of a socket is very simple, if not for the fact that mentally disabled patients require rapid and non-stressful procedures. The 54-year-old DS patient represented herein received a minimally invasive marsupialization under local anesthesia. Due to the large extent of the lesion, the acrylic resin drain was maintained for 30 days. Through the following period, a daily irrigation of the cystic cavity with saline solution was carried out to prevent a secondary infection within the cystic cavity. A follow-up of 16 months showed no signs of recurrence. Marsupialization of residual periapical cyst is completely effective and safe, even for a DS patient that is considered to be at an advanced age. Marsupialization poses as a minimally invasive choice for mentally disabled patients, even when presenting advanced ages; treatment success was stated by the easy clinical conduct, uneventful postoperative situation and the lack of recurrence along 16 months of follow-up.

  8. Hormonal Modulation in Aging Patients with Erectile Dysfunction and Metabolic Syndrome

    Inês Campos Costa

    2013-01-01

    Full Text Available Erectile dysfunction (ED, metabolic syndrome (MetS, and hypogonadism are closely related, often coexisting in the aging male. Obesity was shown to raise the risk of ED and hypogonadism, as well as other endocrinological disturbances with impact on erectile function. We selected 179 patients referred for ED to our andrology unit, aiming to evaluate gonadotropins and estradiol interplay in context of ED, MetS, and hypogonadism. Patients were stratified into groups in accordance with the presence (or not of MetS and/or hypogonadism. Noticeable differences in total testosterone (TT and free testosterone (FT levels were found between patients with and without MetS. Men with MetS evidenced lower TT circulating levels with an increasing number of MetS parameters, for which hypertriglyceridemia and waist circumference strongly contributed. Regarding the hypothalamic-pituitary-gonadal axis, patients with hypogonadism did not exhibit raised LH levels. Interestingly, among those with higher LH levels, estradiol values were also increased. Possible explanations for this unexpected profile of estradiol may be the age-related adiposity, other estrogen-raising pathways, or even unknown mechanisms. Estradiol is possibly a molecule with further interactions beyond the currently described. Our results further enlighten this still unclear multidisciplinary and complex subject, raising new investigational opportunities.

  9. Hearing impairment related to age in Usher syndrome types 1B and 2A.

    Wagenaar, M; van Aarem, A; Huygen, P; Pieke-Dahl, S; Kimberling, W; Cremers, C

    1999-04-01

    To evaluate hearing impairment in 2 common genetic subtypes of Usher syndrome, USH1B and USH2A. Cross-sectional analysis of hearing threshold related to age in patients with genotypes determined by linkage and mutation analysis. Otolaryngology department, university referral center. Nineteen patients with USH1B and 27 with USH2A were examined. All participants were living in the Netherlands and Belgium. Pure tone audiometry of the best ear at last visit. The patients with USH1B had residual hearing without age dependence, with minimum thresholds of 80, 95, and 120 dB at 0.25, 0.5, and 1 to 2 kHz, respectively. Mean thresholds of patients with USH2A were about 45 to 55 dB better than these minimum values. Distinctive audiographic features of patients with USH2A were maximum hearing thresholds of 70, 80, and 100 dB at 0.25, 0.5, and 1 kHz, respectively, only at younger than 40 years. Progression of hearing impairment in USH2A was 0.7 dB/y on average for 0.25 to 4 kHz and could not be explained by presbyacusis alone. The USH1B and USH2A can be easily distinguished by hearing impairment at younger than 40 years at the low frequencies. Hearing impairment in our patients with USH2A could be characterized as progressive.

  10. Lifestyle-induced metabolic inflexibility and accelerated ageing syndrome: insulin resistance, friend or foe?

    Bell Jimmy D

    2009-04-01

    that as oxidative stress determines functional longevity, a rather more descriptive term for the metabolic syndrome is the 'lifestyle-induced metabolic inflexibility and accelerated ageing syndrome'. Ultimately, thriftiness is good for us as long as we have hormetic stimuli; unfortunately, mankind is attempting to remove all hormetic (stressful stimuli from his environment.

  11. Paternal involvement and early infant neurodevelopment: the mediation role of maternal parenting stress.

    Kim, Minjeong; Kang, Su-Kyoung; Yee, Bangsil; Shim, So-Yeon; Chung, Mira

    2016-12-12

    Father-child interactions are associated with improved developmental outcomes among infants. However, to the best of our knowledge, no study has addressed the effects of paternal involvement on the neurodevelopment of infants who are less than 6 months of age, and no study has reported how maternal parenting stress mediates the relationship between paternal involvement and infant neurodevelopment during early infancy. This study investigates the direct and indirect relationship between paternal involvement and infant neurodevelopment at 3-4 months of age. The indirect relationship was assessed through the mediating factor of maternal parenting stress. The participants were recruited through the Sesalmaul Research Center's website from April to June 2014. The final data included 255 mothers and their healthy infants, who were aged 3-4 months. The mothers reported paternal involvement and maternal parenting stress by using Korean Parenting Alliance Inventory (K-PAI) and Parenting Stress Index (PSI), respectively. Experts visited the participants' homes to observe infant neurodevelopment, and completed a developmental examination using Korean version of the Ages and Stages Questionnaire II (K-ASQ II). A hierarchical multiple regression analysis was used for data analysis. Infants' mean ages were 106 days and girls accounted for 46.3%. The mean total scores (reference range) of the K-PAI, PSI, and the K-ASQ II were 55.5 (17-68), 45.8 (25-100), and 243.2 (0-300), respectively. Paternal involvement had a positive relationship with K-ASQ II scores (β = 0.29, p parenting stress was negatively related with K-ASQ II scores (β = -0.32, p parenting stress mediated the relationship between paternal involvement and early infant neurodevelopment (Z = 3.24, p parenting stress (β = -0.25, p parenting stress partially mediates that association. This result emphasizes the importance of fathers' involvement and mothers' parenting stress on early infant

  12. Does paternity leave affect mothers’ sickness absence

    Bratberg, Espen; Naz, Ghazala

    2009-01-01

    Female labour force participation is high in Norway but sickness absence rates are higher for women than for men. This may be partly a result of unequal sharing of childcare in the family. In this paper, we consider the effect of paternity leave on sickness absence among women who have recently given birth. We draw on a six-year panel taken from full population data from administrative sources. We find that in the 6% of families where fathers take out leave more than the standard quota (gende...

  13. Paternalism, Public Health Ethics, and Equality

    Midtgaard, Søren Flinch

    2015-01-01

    . The consequence is deep inequalities in health. The state, to the extent it is part of its role to prevent harm and to reduce inequality, appears obliged to try to influence people’s health choices in the interest of their own health and general well-being. However, the state acting to prevent people from harming...... of the problem of paternalism than their proponents are inclined to think. More familiar measures aiming to make the health-endangering behavior more expensive and/or difficult or outright prohibiting it stand a good chance of reducing inequalities, whilst not being more controversial than nudging policies...

  14. Individual variation in paternal responses of virgin male California mice (Peromyscus californicus): behavioral and physiological correlates

    de Jong, T.R.; Korosi, A.; Harris, B.N.; Perea-Rodriguez, J.P.; Saltzman, W.

    2012-01-01

    California mice Peromyscus californicus are a rodent species in which fathers provide extensive paternal care; however, behavioral responses of virgin males toward conspecific neonates vary from paternal behavior to tolerance to infanticide. Indirect evidence suggests that paternal responses might

  15. Paternal Pregnancy Intention and Breastfeeding Duration: Findings from the National Survey of Family Growth.

    Wallenborn, Jordyn T; Masho, Saba W; Ratliff, Scott

    2017-03-01

    Objectives Despite the benefits of breastfeeding, less than a fifth of American mothers breastfeed for the recommended duration. Paternal support plays a major role in maternal and child health outcomes; however, the influence of paternal pregnancy intention on breastfeeding duration is under investigated. This study examines the relationship between fathers' pregnancy intention and breastfeeding duration. Methods Data from the 2011-2013 National Survey of Family Growth were analyzed using cross-sectional methodology. Women who were pregnant, never received medical help to become pregnant, whose partner was aged 18-49 years, and who responded to questions related to paternal pregnancy intention and breastfeeding were included in the analysis (N = 2089). Multinomial logistic regression, odds ratios and 95 % confidence intervals were calculated. There was a statistically significant interaction between father's age and father's pregnancy intention (P = 0.0385) and all models were stratified by paternal age. Results Fathers aged 18-24 years with a mistimed pregnancy were 2.3 times more likely to have a child who was never breastfed, (AOR 2.27, 95 % CI 1.39-3.70) and 1.7 times more likely to have a child who was breastfed 6 months or less (AOR 1.69, 95 % CI 1.28-2.23) compared to fathers with an intended pregnancy. No statistically significant association was observed among fathers aged 25-49 years. Conclusion Findings from this study show a relationship between mistimed pregnancies and breastfeeding duration among younger fathers. Healthcare professionals should develop breastfeeding interventions targeting fathers and young families.

  16. Age effects on cortical thickness in young Down's syndrome subjects: a cross-sectional gender study

    Romano, Andrea; Moraschi, Marta; Cornia, Riccardo; Stella, Giacomo; Bozzao, Alessandro; Gagliardo, Olga; Chiacchiararelli, Laura; Iani, Cristina; Albertini, Giorgio; Pierallini, Alberto

    2015-01-01

    The aim of this study was to determine differences in the characteristic pattern of age-related cortical thinning in men and women with Down's syndrome (DS) by means of MRI and automatic cortical thickness measurements and a cross-sectional design, in a large cohort of young subjects. Eighty-four subjects with DS, 30 females (11-35 years, mean age ± SD = 22.8 ± 5.9) and 54 males (11-35 years, mean age ± SD = 21.5 ± 6.5), were examined using a 1.5-T scanner. MRI-based quantification of cortical thickness was performed using FreeSurfer software package. For all subjects participating in the study, the Pearson product-moment correlation coefficient between age and mean cortical thickness values has been evaluated. A significant negative correlation between cortical thickness and age was found in female DS subjects, predominantly in frontal and parietal lobes, bilaterally. In male DS subjects, a significant negative correlation between cortical thickness and age was found in the right fronto-temporal lobes and cingulate regions. Whole brain mean cortical thickness values were significantly negative correlated with age only in female DS subjects. Females with Down's syndrome showed a strong correlation between cortical thickness and age, already in early age. We suggest that the cognitive impairment due to hormonal deficit in the postmenopausal period could be emphasized by the early structural decline of gray matter in female DS subjects. (orig.)

  17. Age-related changes in humoral and cell-mediated immunity in Down syndrome children living at home.

    Lockitch, G; Singh, V K; Puterman, M L; Godolphin, W J; Sheps, S; Tingle, A J; Wong, F; Quigley, G

    1987-11-01

    Abnormalities of humoral and cell-mediated immunity have been described in Down syndrome but reported findings have been inconsistent. Confounding factors have included age, institutional versus home life, hepatitis B antigenemia, and zinc deficiency. To clarify this problem, we studied 64 children with Down syndrome (DS) compared with an age-matched control group. All children had always lived at home. All the DS children were negative for hepatitis B surface antigen. Serum zinc concentration in the DS group was on average 12 micrograms/dl lower than age-matched control children. They also had significantly lower levels of immunoglobulin M, total lymphocyte count, T and B lymphocytes, and T helper and suppressor cells. In vitro lymphocyte response to phytohemagglutinin and concanavalin A was significantly reduced at all ages in the DS group. Lymphocyte response to pokeweed mitogen increased with age in control children but decreased in the DS children. By 18 yr, the mean response for DS was 60000 cpm lower than controls. The DS group had significantly higher concentrations of immunoglobulins A and G than controls and the difference increased with age. Complement fractions C3 and C4 were also higher in the DS group at all ages. The number of HNK-1 positive cells was higher in the DS group than controls at all ages. When hepatitis and institutionalization are excluded as confounding factors, DS children still differ in both humoral and cell-mediated immunity from an age-matched control group.

  18. Age effects on cortical thickness in young Down's syndrome subjects: a cross-sectional gender study

    Romano, Andrea; Moraschi, Marta [San Raffaele Foundation Rome, Rehabilitation Facility Ceglie Messapica, Rome (Italy); Cornia, Riccardo; Stella, Giacomo [University of Modena and Reggio Emilia, Department of Education and Human Sciences, Emilia-Romagna (Italy); Bozzao, Alessandro; Gagliardo, Olga [University Sapienza, NESMOS, Department of Neuroradiology, S. Andrea Hospital, Rome (Italy); Chiacchiararelli, Laura [University Sapienza, Department of Medical Physics, S. Andrea Hospital, Rome (Italy); Iani, Cristina [University of Modena and Reggio Emilia, Department of Communication and Economy, Emilia-Romagna (Italy); Albertini, Giorgio [IRCSS San Raffaele Pisana, Department of Paediatrics, Rome (Italy); Pierallini, Alberto [IRCSS San Raffaele Pisana, Department of Radiology, Rome (Italy)

    2015-04-01

    The aim of this study was to determine differences in the characteristic pattern of age-related cortical thinning in men and women with Down's syndrome (DS) by means of MRI and automatic cortical thickness measurements and a cross-sectional design, in a large cohort of young subjects. Eighty-four subjects with DS, 30 females (11-35 years, mean age ± SD = 22.8 ± 5.9) and 54 males (11-35 years, mean age ± SD = 21.5 ± 6.5), were examined using a 1.5-T scanner. MRI-based quantification of cortical thickness was performed using FreeSurfer software package. For all subjects participating in the study, the Pearson product-moment correlation coefficient between age and mean cortical thickness values has been evaluated. A significant negative correlation between cortical thickness and age was found in female DS subjects, predominantly in frontal and parietal lobes, bilaterally. In male DS subjects, a significant negative correlation between cortical thickness and age was found in the right fronto-temporal lobes and cingulate regions. Whole brain mean cortical thickness values were significantly negative correlated with age only in female DS subjects. Females with Down's syndrome showed a strong correlation between cortical thickness and age, already in early age. We suggest that the cognitive impairment due to hormonal deficit in the postmenopausal period could be emphasized by the early structural decline of gray matter in female DS subjects. (orig.)

  19. The association of parental education with childhood undernutrition in low- and middle-income countries: comparing the role of paternal and maternal education.

    Vollmer, Sebastian; Bommer, Christian; Krishna, Aditi; Harttgen, Kenneth; Subramanian, S V

    2017-02-01

    Most existing research on the association of parental education with childhood undernutrition focuses on maternal education and often ignores paternal education. We systematically investigate differences in maternal and paternal education and their association with childhood undernutrition. One hundred and eighty Demographic and Health Surveys from 62 countries performed between 1990 and 2014 were analysed. We used linear-probability models to predict childhood undernutrition prevalences, measured as stunting, underweight and wasting, for all combinations of maternal and paternal attainment in school. Models were adjusted for demographic and socio-economic covariates for the child, mother and household, country-level fixed effects and clustering. Additional specifications adjust for local area characteristics instead of country fixed effects. Both higher maternal and paternal education levels are associated with lower childhood undernutrition. In regressions adjusted for child age and sex as well as country-level fixed effects, the association is stronger for maternal education than for paternal education when their combined level of education is held constant. In the fully adjusted models, the observed differences in predicted undernutrition prevalences are strongly attenuated, suggesting a similar importance of maternal and paternal education. These findings are confirmed by the analysis of composite schooling indicators. We find that paternal education is similarly important for reducing childhood undernutrition as maternal education and should therefore receive increased attention in the literature. © The Author 2016; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association

  20. Low paternity skew and the influence of maternal kin in an egalitarian, patrilocal primate.

    Strier, Karen B; Chaves, Paulo B; Mendes, Sérgio L; Fagundes, Valéria; Di Fiore, Anthony

    2011-11-22

    Levels of reproductive skew vary in wild primates living in multimale groups depending on the degree to which high-ranking males monopolize access to females. Still, the factors affecting paternity in egalitarian societies remain unexplored. We combine unique behavioral, life history, and genetic data to evaluate the distribution of paternity in the northern muriqui (Brachyteles hypoxanthus), a species known for its affiliative, nonhierarchical relationships. We genotyped 67 individuals (22 infants born over a 3-y period, their 21 mothers, and all 24 possible sires) at 17 microsatellite marker loci and assigned paternity to all infants. None of the 13 fathers were close maternal relatives of females with which they sired infants, and the most successful male sired a much lower percentage of infants (18%) than reported for the most successful males in other species. Our findings of inbreeding avoidance and low male reproductive skew are consistent with the muriqui's observed social and sexual behavior, but the long delay (≥2.08 y) between the onset of male sexual behavior and the age at which males first sire young is unexpected. The allocation of paternity implicates individual male life histories and access to maternal kin as key factors influencing variation in paternal--and grandmaternal--fitness. The apparent importance of lifelong maternal investment in coresident sons resonates with other recent examinations of maternal influences on offspring reproduction. This importance also extends the implications of the "grandmother hypothesis" in human evolution to include the possible influence of mothers and other maternal kin on male reproductive success in patrilocal societies.

  1. Paternal education status significantly influences infants’ measles vaccination uptake, independent of maternal education status

    Rammohan Anu

    2012-07-01

    Full Text Available Abstract Background Despite increased funding of measles vaccination programs by national governments and international aid agencies, structural factors encumber attainment of childhood measles immunisation to levels which may guarantee herd immunity. One of such factors is parental education status. Research on the links between parental education and vaccination has typically focused on the influence of maternal education status. This study aims to demonstrate the independent influence of paternal education status on measles immunisation. Methods Comparable nationally representative survey data were obtained from six countries with the highest numbers of children missing the measles vaccine in 2008. Logistic regression analysis was applied to examine the influence of paternal education on uptake of the first dose of measles vaccination, independent of maternal education, whilst controlling for confounding factors such as respondent’s age, urban/rural residence, province/state of residence, religion, wealth and occupation. Results The results of the analysis show that even if a mother is illiterate, having a father with an education of Secondary (high school schooling and above is statistically significant and positively correlated with the likelihood of a child being vaccinated for measles, in the six countries analysed. Paternal education of secondary or higher level was significantly and independently correlated with measles immunisation uptake after controlling for all potential confounders. Conclusions The influence of paternal education status on measles immunisation uptake was investigated and found to be statistically significant in six nations with the biggest gaps in measles immunisation coverage in 2008. This study underscores the imperative of utilising both maternal and paternal education as screening variables to identify children at risk of missing measles vaccination prospectively.

  2. Paternal education status significantly influences infants’ measles vaccination uptake, independent of maternal education status

    2012-01-01

    Background Despite increased funding of measles vaccination programs by national governments and international aid agencies, structural factors encumber attainment of childhood measles immunisation to levels which may guarantee herd immunity. One of such factors is parental education status. Research on the links between parental education and vaccination has typically focused on the influence of maternal education status. This study aims to demonstrate the independent influence of paternal education status on measles immunisation. Methods Comparable nationally representative survey data were obtained from six countries with the highest numbers of children missing the measles vaccine in 2008. Logistic regression analysis was applied to examine the influence of paternal education on uptake of the first dose of measles vaccination, independent of maternal education, whilst controlling for confounding factors such as respondent’s age, urban/rural residence, province/state of residence, religion, wealth and occupation. Results The results of the analysis show that even if a mother is illiterate, having a father with an education of Secondary (high school) schooling and above is statistically significant and positively correlated with the likelihood of a child being vaccinated for measles, in the six countries analysed. Paternal education of secondary or higher level was significantly and independently correlated with measles immunisation uptake after controlling for all potential confounders. Conclusions The influence of paternal education status on measles immunisation uptake was investigated and found to be statistically significant in six nations with the biggest gaps in measles immunisation coverage in 2008. This study underscores the imperative of utilising both maternal and paternal education as screening variables to identify children at risk of missing measles vaccination prospectively. PMID:22568861

  3. Paternal education status significantly influences infants' measles vaccination uptake, independent of maternal education status.

    Rammohan, Anu; Awofeso, Niyi; Fernandez, Renae C

    2012-05-08

    Despite increased funding of measles vaccination programs by national governments and international aid agencies, structural factors encumber attainment of childhood measles immunisation to levels which may guarantee herd immunity. One of such factors is parental education status. Research on the links between parental education and vaccination has typically focused on the influence of maternal education status. This study aims to demonstrate the independent influence of paternal education status on measles immunisation. Comparable nationally representative survey data were obtained from six countries with the highest numbers of children missing the measles vaccine in 2008. Logistic regression analysis was applied to examine the influence of paternal education on uptake of the first dose of measles vaccination, independent of maternal education, whilst controlling for confounding factors such as respondent's age, urban/rural residence, province/state of residence, religion, wealth and occupation. The results of the analysis show that even if a mother is illiterate, having a father with an education of Secondary (high school) schooling and above is statistically significant and positively correlated with the likelihood of a child being vaccinated for measles, in the six countries analysed. Paternal education of secondary or higher level was significantly and independently correlated with measles immunisation uptake after controlling for all potential confounders. The influence of paternal education status on measles immunisation uptake was investigated and found to be statistically significant in six nations with the biggest gaps in measles immunisation coverage in 2008. This study underscores the imperative of utilising both maternal and paternal education as screening variables to identify children at risk of missing measles vaccination prospectively.

  4. Factors Associated with Perceived Paternal Involvement in Childrearing.

    Sanderson, Susan; Thompson, Vetta L. Sanders

    2002-01-01

    Surveyed African American and white fathers living with their young children and the children's mothers regarding variables associated with perceived paternal involvement in child care. Results indicated that ethnicity, gender role orientation, and perceived skill at child care related to higher levels of perceived paternal engagement in and…

  5. Birth outcomes after preconception paternal exposure to methotrexate

    Winter, Rachel W; Larsen, Michael Due; Magnussen, Bjarne

    2017-01-01

    BACKGROUND: Methotrexate (MTX), a folic acid antagonist, is often prescribed for moderate to severe inflammatory related diseases. The safety of paternal MTX use prior to conception is unknown. This study, using the National Danish Registries, aimed to examine the association between paternal MTX...

  6. Genotype Reconstruction of Paternity in European Lobsters (Homarus gammarus).

    Ellis, Charlie D; Hodgson, David J; André, Carl; Sørdalen, Tonje K; Knutsen, Halvor; Griffiths, Amber G F

    2015-01-01

    Decapod crustaceans exhibit considerable variation in fertilisation strategies, ranging from pervasive single paternity to the near-ubiquitous presence of multiple paternity, and such knowledge of mating systems and behaviour are required for the informed management of commercially-exploited marine fisheries. We used genetic markers to assess the paternity of individual broods in the European lobster, Homarus gammarus, a species for which paternity structure is unknown. Using 13 multiplexed microsatellite loci, three of which are newly described in this study, we genotyped 10 eggs from each of 34 females collected from an Atlantic peninsula in the south-western United Kingdom. Single reconstructed paternal genotypes explained all observed progeny genotypes in each of the 34 egg clutches, and each clutch was fertilised by a different male. Simulations indicated that the probability of detecting multiple paternity was in excess of 95% if secondary sires account for at least a quarter of the brood, and in excess of 99% where additional sire success was approximately equal. Our results show that multiple paternal fertilisations are either absent, unusual, or highly skewed in favour of a single male among H. gammarus in this area. Potential mechanisms upholding single paternal fertilisation are discussed, along with the prospective utility of parentage assignments in evaluations of hatchery stocking and other fishery conservation approaches in light of this finding.

  7. 25 CFR 11.609 - Determination of paternity and support.

    2010-04-01

    ... OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... 25 Indians 1 2010-04-01 2010-04-01 false Determination of paternity and support. 11.609 Section 11... child and to obtain a judgment for the support of the child. A judgment of the court establishing the...

  8. Fathers in Turkey: Paternity Characteristics, Gender Role, Communication Skills

    ünüvar, Perihan

    2017-01-01

    Objective of this study is to examine the correlation the quality of paternity, gender roles and communication skills of fathers. The scores in the scale of supporting developmental tasks were used in order to determine the quality of paternity. The other data collection tools were the BEM sex role inventory and the communication skills inventory.…

  9. Intergenerational Comparisons of Paternal Korean Child Rearing Practices and Attitudes.

    Jung, Kwanghee; Honig, Alice Sterling

    2000-01-01

    Explored possible antecedents of paternal child rearing in middle-class, two-parent, Korean families. Found that fathers reported disciplinary practices similar to those of their own fathers. Fathers reported more nurturance and acceptance/flexibility than grandfathers. Paternal job satisfaction, relationship with own mother, and educational…

  10. Konference Fathers and Paternity Leave: Men Do It

    Maříková, Hana

    2006-01-01

    Roč. 42, č. 14 (2006), s. 833-835 ISSN 0038-0288. [Fathers and Paternity Leave: Men Do It] R&D Projects: GA AV ČR IAA700280504 Institutional research plan: CEZ:AV0Z70280505 Keywords : parental leave * paternity leave * fathering Subject RIV: AO - Sociology, Demography Impact factor: 0.128, year: 2006

  11. Genotype Reconstruction of Paternity in European Lobsters (Homarus gammarus.

    Charlie D Ellis

    Full Text Available Decapod crustaceans exhibit considerable variation in fertilisation strategies, ranging from pervasive single paternity to the near-ubiquitous presence of multiple paternity, and such knowledge of mating systems and behaviour are required for the informed management of commercially-exploited marine fisheries. We used genetic markers to assess the paternity of individual broods in the European lobster, Homarus gammarus, a species for which paternity structure is unknown. Using 13 multiplexed microsatellite loci, three of which are newly described in this study, we genotyped 10 eggs from each of 34 females collected from an Atlantic peninsula in the south-western United Kingdom. Single reconstructed paternal genotypes explained all observed progeny genotypes in each of the 34 egg clutches, and each clutch was fertilised by a different male. Simulations indicated that the probability of detecting multiple paternity was in excess of 95% if secondary sires account for at least a quarter of the brood, and in excess of 99% where additional sire success was approximately equal. Our results show that multiple paternal fertilisations are either absent, unusual, or highly skewed in favour of a single male among H. gammarus in this area. Potential mechanisms upholding single paternal fertilisation are discussed, along with the prospective utility of parentage assignments in evaluations of hatchery stocking and other fishery conservation approaches in light of this finding.

  12. Paternal Involvement in Child- Rearing Activities: The Perspective of ...

    In recognition of the need to widen the scope of fatherhood scholarship, this article centered on examining paternal involvement but in a socio- cultural context and developmental stage that has headed little attention in previous research. An attempt was made to investigate the nature of paternal involvement (ways, desires ...

  13. From killer to carer: steroid hormones and paternal behaviour | de ...

    Mammalian parental investment (i.e. care of descendant offspring) is largely biased towards maternal contributions due to the specific feeding needs of mammalian offspring; however, varying degrees of paternal investment have been reported in about 10% of all mammalian species. Within the order Carnivora, paternal ...

  14. Family members and health professionals' perspectives on future life planning of ageing people with Down syndrome: a qualitative study.

    Covelli, Venusia; Raggi, Alberto; Paganelli, Chiara; Leonardi, Matilde

    2017-08-08

    To address the way in which primary caregivers of people over 45 with Down syndrome describe daily life activities and context and foresee their future. Thirteen family members and 15 health professionals participated to four focus groups. Meaningful concepts were identified and linked to the International Classification of Functioning, Disability and Health using established linking rules. A total of 258 relevant concepts were identified and linked to 75 categories of the classification: 38 were from activity and participation and 17 from environmental factors domains. The most commonly reported issues were mental functions (b117-intellectual functions and b152-emotional functions), community life activities (d910-community life and d920-recreation and leisure) and environmental factors (e310-support of immediate family, e355-support from health professionals and e555-associations and organizational services). Information on the daily life and health of ageing people with Down syndrome is important to plan social and health care interventions tailored to deal with problems that they may encounter in older age. Considering the interaction between health and environment and maintaining a continuity of daily routines were reported as the most relevant topics for managing daily lives of persons with Down syndrome in older ages. Implications for rehabilitation Pay more attention to the interaction between environmental factors and health condition in ageing people with Down syndrome. Information about the life contest are important in order to plan present and future social-health care interventions. Future planning for people with Down syndrome is a great concern for family members.

  15. Parents' age and the risk of oral clefts

    Bille, C.; Skytthe, A.; Vach, W.

    2005-01-01

    BACKGROUND: Some malformations are clearly associated with older maternal age, but the effect of older age of the father is less certain. The aim of this study is to determine the degree to which maternal age and paternal age independently influence the risk of having a child with oral clefts....... In a joint analysis, both maternal and paternal ages were associated with the risk of cleft lip with or without cleft palate, but the contribution of each was dependent on the age of the other parent. In the analysis of cleft palate only, the effect of maternal age disappeared, leaving only paternal age...... as a risk factor. CONCLUSION: Both high maternal age and high paternal age were associated with cleft lip with or without cleft palate. Higher paternal age but not maternal age increased the risk of cleft palate only....

  16. The pituitary-testicular axis in microgravity: analogies with the aging male syndrome.

    Strollo, F; Boitani, C; Basciani, S; Pecorelli, L; Palumbo, D; Borgia, L; Masini, M A; Morè, M; Strollo, G; Spera, G; Uva, B M; Riondino, G

    2005-01-01

    Extraterrestrial exploration has gone on for decades before reversible testicular failure was shown to be a consequence of space flight in humans and animals at the end of the XXth century. This phenomenon was initially thought to depend on the psycho-physical stress expected to derive from a decidedly unusual environment, but the lack of consistent data concerning cortisol increase and/or gonadotrophin suppression pointed to the possibility of a primary defect. This was indirectly confirmed by the observation that a continuum of testicular androgen secretion potential exists from microgravity to centrifuge-derived hypergravity. Further experiments using tissue slices and suspended cells confirmed a direct inhibitory effect of microgravity upon testicular androgen production. A parallel deterioration of major physiological parameters, such as bone density, muscle mass/force, red blood cell mass, hydration and cardiopulmonary performance, has been repeatedly described during space missions, which, luckily enough, fully recover within days to weeks after landing, the time lag depending on single organ/system adaptation rates. According to the Authors of the present review, when taking together all reported changes occurring in space, a picture emerges closely resembling the so-called aging male syndrome, which is currently the object of daily screening and clinical care in their endocrine unit, so that microgravity may become a tool for better understanding subtle mechanisms of testicular senescence.

  17. Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17.

    Kishnani, Priya S; Heller, James H; Spiridigliozzi, Gail A; Lott, Ira; Escobar, Luis; Richardson, Sharon; Zhang, Richard; McRae, Thomas

    2010-12-01

    The objective of this 10-week, randomized, double-blind, placebo-controlled multicenter study was to assess the efficacy and safety of donepezil for the treatment of cognitive dysfunction exhibited by children with Down syndrome (DS). Intervention comprised donepezil (2.5-10 mg/day) in children (aged 10-17 years) with DS of mild-to-moderate severity. The primary measures were the Vineland-II Adaptive Behavior Scales (VABS-II) Parent/Caregiver Rating Form (PCRF) the sum of nine subdomain standardized scores and standard safety measures. Secondary measures included the VABS-II/PCRF scores on the following domains and their respective individual subdomains: Communication (receptive, expressive, and written); Daily Living Skills (personal, domestic, and community); Socialization (interpersonal relationships, play and leisure time, and coping skills), and scores on the Test of Verbal Expression and Reasoning, a subject-performance-based measure of expressive language. At baseline, 129 participants were assigned treatment with donepezil or placebo. During the double-blind phase, VABS II/PCRF sum of the nine subdomain standardized scores, called v-scores, improved significantly from baseline in both groups (P < 0.0001), with no significant between-group differences. This trial failed to demonstrate any benefit for donepezil versus placebo in children and adolescents with DS, although donepezil appeared to be well tolerated. © 2010 Wiley-Liss, Inc.

  18. Interaction between the Cockayne syndrome B and p53 proteins: implications for aging.

    Frontini, Mattia; Proietti-De-Santis, Luca

    2012-02-01

    The CSB protein plays a role in the transcription coupled repair (TCR) branch of the nucleotide excision repair pathway. CSB is very often found mutated in Cockayne syndrome, a segmental progeroid genetic disease characterized by organ degeneration and growth failure. The tumor suppressor p53 plays a pivotal role in triggering senescence and apoptosis and suppressing tumorigenesis. Although p53 is very important to avoid cancer, its excessive activity can be detrimental for the lifespan of the organism. This is why a network of positive and negative feedback loops, which most likely evolved to fine-tune the activity of this tumor suppressor, modulate its induction and activation. Accordingly, an unbalanced p53 activity gives rise to premature aging or cancer. The physical interaction between CSB and p53 proteins has been known for more than a decade but, despite several hypotheses, nobody has been able to show the functional consequences of this interaction. In this review we resume recent advances towards a more comprehensive understanding of the critical role of this interaction in modulating p53’s levels and activity, therefore helping the system find a reasonable equilibrium between the beneficial and the detrimental effects of its activity. This crosstalk re-establishes the physiological balance towards cell proliferation and survival instead of towards cell death, after stressors of a broad nature. Accordingly, cells bearing mutations in the csb gene are unable to re-establish this physiological balance and to properly respond to some stress stimuli and undergo massive apoptosis.

  19. The effects of age, metabolic syndrome, nocturnal polyuria and sleep disorders on nocturia.

    Sağlam, Hasan S; Gökkaya, C Serkan; Salar, Remzi; Memiş, Ali; Adsan, Oztuğ

    2013-01-01

    Nocturia, which is especially frequent among older men, adversely affects the individual's quality of life. It is regarded as one of the most bothersome lower urinary tract symptoms (LUTS). The aim of the study was to investigate factors contributing to the frequency of nocturia. Men ≥ 40 years with LUTS were enrolled in this study. After medical histories were taken and physical examinations conducted, biochemical tests and measures for LUTS were carried out. Anthropometric measurements were performed and Epworth scores (ES) were examined. Patients were divided into two groups with respect to nocturia: the first group having no nocturia or one incident of nocturia per night, and the second group with two or more nightly incidents of nocturia. The data were analyzed statistically; p polyuria was associated with nocturia, systolic blood pressure and IPSS. Age, nocturnal polyuria, metabolic syndrome and sleep disturbances have been shown to be contributing factors in the frequency of nocturia and LUTS. Therefore, steps taken to alleviate factors that can be altered - such as hypertension, weight gain, sleep disturbances and IPSS - may improve the individual's quality of life.

  20. Clinical implications of somatic mutations in aplastic anemia and myelodysplastic syndrome in genomic age.

    Maciejewski, Jaroslaw P; Balasubramanian, Suresh K

    2017-12-08

    Recent technological advances in genomics have led to the discovery of new somatic mutations and have brought deeper insights into clonal diversity. This discovery has changed not only the understanding of disease mechanisms but also the diagnostics and clinical management of bone marrow failure. The clinical applications of genomics include enhancement of current prognostic schemas, prediction of sensitivity or refractoriness to treatments, and conceptualization and selective application of targeted therapies. However, beyond these traditional clinical aspects, complex hierarchical clonal architecture has been uncovered and linked to the current concepts of leukemogenesis and stem cell biology. Detection of clonal mutations, otherwise typical of myelodysplastic syndrome, in the course of aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria has led to new pathogenic concepts in these conditions and created a new link between AA and its clonal complications, such as post-AA and paroxysmal nocturnal hemoglobinuria. Distinctions among founder vs subclonal mutations, types of clonal evolution (linear or branching), and biological features of individual mutations (sweeping, persistent, or vanishing) will allow for better predictions of the biologic impact they impart in individual cases. As clonal markers, mutations can be used for monitoring clonal dynamics of the stem cell compartment during physiologic aging, disease processes, and leukemic evolution. © 2016 by The American Society of Hematology. All rights reserved.

  1. Aging Eye Microbiota in Dry Eye Syndrome in Patients Treated with Enterococcus faecium and Saccharomyces boulardii.

    Chisari, Giuseppe; Chisari, Eleonora M; Borzi, Antonio M; Chisari, Clara G

    2017-01-01

    Aging and oxidative stress seem to play a key role in the onset and progression of ocular surface diseases. Dry Eye Syndrome (DES) is a multifactorial disease of the tears and ocular surface in which symptoms may interfere with the ability to work and carry out daily functions. This clinical trial was a pilot study to evaluate the effects of supplementation with mixture (Saccharomyces boulardii MUCL 53837 and Enterococcus faecium LMG S-28935) on the tear film. Following the run-in period subjects were randomized in two groups: group A (n.30 subjects) and group B (n.30 subjects). Group A (control) treated only with substitute tear and group B treated with substitute tear + mixture (probiotic). The data obtained in the two study groups A and B were, respectively the following: Schirmer I: 9.2±0.2 vs. 12.8±0.4 (pSaccharomyces boulardii MUCL 53837 and Enterococcus faecium LMG S-28935) activity integration with the action of tear substitutes, along with standardization of clinical parameters of the tear film and microbiological activity in restoring of the microbiota ocular surface subject with DES. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  2. Aging- and Senescence-associated Changes of Mesenchymal Stromal Cells in Myelodysplastic Syndromes.

    Mattiucci, Domenico; Maurizi, Giulia; Leoni, Pietro; Poloni, Antonella

    2018-01-01

    Hematopoietic stem and progenitor cells reside within the bone marrow (BM) microenvironment. By a well-balanced interplay between self-renewal and differentiation, they ensure a lifelong supply of mature blood cells. Physiologically, multiple different cell types contribute to the regulation of stem and progenitor cells in the BM microenvironment by cell-extrinsic and cell-intrinsic mechanisms. During the last decades, mesenchymal stromal cells (MSCs) have been identified as one of the main cellular components of the BM microenvironment holding an indispensable role for normal hematopoiesis. During aging, MSCs diminish their functional and regenerative capacities and in some cases encounter replicative senescence, promoting inflammation and cancer progression. It is now evident that alterations in specific stromal cells that comprise the BM microenvironment can contribute to hematologic malignancies, and there is growing interest regarding the contribution of MSCs to the pathogenesis of myelodysplastic syndromes (MDSs), a clonal hematological disorder, occurring mostly in the elderly, characterized by ineffective hematopoiesis and increased tendency to acute myeloid leukemia evolution. The pathogenesis of MDS has been associated with specific genetic and epigenetic events occurring both in hematopoietic stem cells (HSCs) and in the whole BM microenvironment with an aberrant cross talk between hematopoietic elements and stromal compartment. This review highlights the role of MSCs in MDS showing functional and molecular alterations such as altered cell-cycle regulation with impaired proliferative potential, dysregulated cytokine secretion, and an abnormal gene expression profile. Here, the current knowledge of impaired functional properties of both aged MSCs and MSCs in MDS have been described with a special focus on inflammation and senescence induced changes in the BM microenvironment. Furthermore, a better understanding of aberrant BM microenvironment could

  3. Arousal responses in babies at risk of sudden infant death syndrome at different postnatal ages.

    Dunne, K P

    1992-03-01

    Hypercarbic and hypoxic arousal responses during sleep were measured in healthy term infants, infants where a previous sibling died from sudden infant death syndrome (SIDS) and infants suffering a clearly defined apparent life threatening event (ALTE) requiring vigorous or mouth to mouth resuscitation. Groups of infants were tested at approximately one, six and 13 weeks postnatally. Arousal was defined as gross body movement with eyes opening and moving or crying. Hypercarbic arousal was by step increases in F1 Co2 until arousal occurred or until endtidal (PETCO2) reached 8.7 KpA (65 mm Hg) Hypoxic arousal was by step decreases in FIO2 until arousal occurred or until an FIO2 of 0.15 had been maintained for 20 minutes. There was no difference in hypercaribic arousal threshold with age in any group. Hypercarbic arousal threshold was significantly higher in siblings (mean 53.4, 53.6, 54.7 mmHg. [7.12, 7.14, 7.29 KPA] at 0, 6, 13 postnatal weeks) compared to controls (mean 50.9, 52.3, 53.0mm Hg. [6.78, 6.97, 7.29 KPS respectively). ALTE infants differed only at 12 weeks having a significantly lower threshold (51.0mmHg. [6.80 KPA] V 53.0mm Hg. (7.06 KPA]) compared to controls. There was no difference in hypoxic arousal response with age in any group. An arousal response to hypoxia occurred in only 22% of ALTE infants and 40% of siblings compared to 67% of normal infants. Deficient sleep arousal, especially to hypoxia, is common in infants and especially those considered at increased risk from SIDS. This deficiency is present in the first postnatal week and did not vary overy the first three months of postnatal life.

  4. Responses of sympathetic nervous system to cold exposure in vibration syndrome subjects and age-matched healthy controls.

    Nakamoto, M

    1990-01-01

    Plasma norepinephrine and epinephrine in vibration syndrome subjects and age-matched healthy controls were measured for the purpose of estimating the responsibility of the sympathetic nervous system to cold exposure. In preliminary experiment, it was confirmed that cold air exposure of the whole body was more suitable than one-hand immersion in cold water. In the main experiment, 195 subjects were examined. Sixty-five subjects had vibration syndrome with vibration-induced white finger (VWF + group) and 65 subjects had vibration syndrome without VWF (VWF- group) and 65 controls had no symptoms (control group). In the three groups, plasma norepinephrine levels increased during cold air exposure of whole body at 7 degrees +/- 1.5 degrees C. Blood pressure increased and skin temperature decreased during cold exposure. Percent increase of norepinephrine in the VWF+ group was the highest while that in VWF- group followed and that in the control group was the lowest. This whole-body response of the sympathetic nervous system to cold conditions reflected the VWF which are characteristic symptoms of vibration syndrome. Excluding the effects of shivering and a cold feeling under cold conditions, it was confirmed that the sympathetic nervous system in vibration syndrome is activated more than in the controls. These results suggest that vibration exposure to hand and arm affects the sympathetic nervous system.

  5. Prenatal exposure to maternal and paternal depressive symptoms and white matter microstructure in children.

    El Marroun, Hanan; Zou, Runyu; Muetzel, Ryan L; Jaddoe, Vincent W; Verhulst, Frank C; White, Tonya; Tiemeier, Henning

    2018-04-01

    Prenatal maternal depression has been associated with multiple problems in offspring involving affect, cognition, and neuroendocrine functioning. This suggests that prenatal depression influences neurodevelopment. However, the underlying neurodevelopmental mechanism remains unclear. We prospectively assessed whether maternal depressive symptoms during pregnancy and at the child's age 3 years are related to white matter microstructure in 690 children. The association of paternal depressive symptoms with childhood white matter microstructure was assessed to evaluate genetic or familial confounding. Parental depressive symptoms were measured using the Brief Symptom Inventory. In children aged 6-9 years, we used diffusion tensor imaging to assess white matter microstructure characteristics including fractional anisotropy (FA) and mean diffusivity (MD). Exposure to maternal depressive symptoms during pregnancy was associated with higher MD in the uncinate fasciculus and to lower FA and higher MD in the cingulum bundle. No associations of maternal depressive symptoms at the child's age of 3 years with white matter characteristics were observed. Paternal depressive symptoms also showed a trend toward significance for a lower FA in the cingulum bundle. Prenatal maternal depressive symptoms were associated with higher MD in the uncinate fasciculus and the cingulum bundle. These structures are part of the limbic system, which is involved in motivation, emotion, learning, and memory. As paternal depressive symptoms were also related to lower FA in the cingulum, the observed effect may partly reflect a genetic predisposition and shared environmental family factors and to a lesser extent a specific intrauterine effect. © 2018 Wiley Periodicals, Inc.

  6. Stuttering Treatment for a School-Age Child with Down Syndrome: A Descriptive Case Report

    Harasym, Jessica; Langevin, Marilyn

    2012-01-01

    Background: Little is known about optimal treatment approaches and stuttering treatment outcomes for children with Down syndrome. Aims and method: The purpose of this study was to investigate outcomes for a child with Down syndrome who received a combination of fluency shaping therapy and parent delivered contingencies for normally fluent speech,…

  7. Screening for Asperger Syndrome in School-Age Children: Issues and Instruments

    Reilly, Colin; Campbell, Audrey; Keran, Patricia

    2009-01-01

    Many children with Asperger syndrome are not identified prior to school entry, and difficulties associated with the condition may only become evident when a child enters school. Failure to identify children with the syndrome may lead to increased risk for psychopathology, and lack of understanding of the reasons for social and communicative…

  8. Consequences of advanced aging on renal function in chronic hyperandrogenemic female rat model: implications for aging women with polycystic ovary syndrome.

    Patil, Chetan N; Racusen, Lorraine C; Reckelhoff, Jane F

    2017-11-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine and reproductive disorder in premenopausal women, characterized by hyperandrogenemia, metabolic syndrome, and inflammation. Women who had PCOS during their reproductive years remain hyperandrogenemic after menopause. The consequence of chronic hyperandrogenemia with advanced aging has not been studied to our knowledge. We have characterized a model of hyperandrogenemia in female rats and have aged them to 22-25 months to mimic advanced aging in hyperandrogenemic women, and tested the hypothesis that chronic exposure to hyperandrogenemia with aging has a deleterious effect on renal function. Female rats were chronically implanted with dihydrotestosterone pellets (DHT 7.5 mg/90 days) that were changed every 85 days or placebo pellets, and renal function was measured by clearance methods. Aging DHT-treated females had a threefold higher level of DHT with significantly higher body weight, mean arterial pressure, left kidney weight, proteinuria, and kidney injury molecule-1 (KIM-1), than did age-matched controls. In addition, DHT-treated-old females had a 60% reduction in glomerular filtration rate, 40% reduction in renal plasma flow, and significant reduction in urinary nitrate and nitrite excretion (UNOxV), an index of nitric oxide production. Morphological examination of kidneys showed that old DHT-treated females had significant focal segmental glomerulosclerosis, global sclerosis, and interstitial fibrosis compared to controls. Thus chronic hyperandrogenemia that persists into old age in females is associated with renal injury. These data suggest that women with chronic hyperandrogenemia such as in PCOS may be at increased risk for development of chronic kidney disease with advanced age. © 2017 The Authors. Physiological Reports published by Wiley Periodicals, Inc. on behalf of The Physiological Society and the American Physiological Society.

  9. High resolution melt-curve analysis to fine map a locus controlling the paternal sorting of mitochondria

    Mitochondria are required for normal growth and development and play an important role in programmed cell death and aging. The mitochondrial DNA is maternally transmitted in the vast majority of eukaryotes. One exception is cucumber (Cucumis sativus), whose mitochondrial DNA is paternally transmit...

  10. Multilocus DNA fingerprinting in paternity analysis: a Chilean experience

    Cifuentes O. Lucía

    2000-01-01

    Full Text Available DNA polymorphism is very useful in paternity analysis. The present paper describes paternity studies done using DNA profiles obtained with the (CAC5 probe. All of the subjects studied were involved in nonjudicial cases of paternity. Genomic DNA digested with HaeIII was run on agarose gels and hybridized in the gel with the (CAC5 probe labeled with 32P. The mean number of bands larger than the 4.3 kb per individual was 16.1. The mean proportion of bands shared among unrelated individuals was 0.08 and the mean number of test bands was 7.1. This corresponded to an exclusion probability greater than 0.999999. Paternity was excluded in 34.5% of the cases. The mutation frequency estimated from non-excluded cases was 0.01143 bands per child. In these cases, the paternity was confirmed by a locus-specific analysis of eight independent PCR-based loci. The paternity index was computed in all non-excluded cases. It can be concluded that this method is a powerful and inexpensive alternative to solve paternity doubts.

  11. Maternal modulation of paternal effects on offspring development.

    Mashoodh, Rahia; Habrylo, Ireneusz B; Gudsnuk, Kathryn M; Pelle, Geralyn; Champagne, Frances A

    2018-03-14

    The paternal transmission of environmentally induced phenotypes across generations has been reported to occur following a number of qualitatively different exposures and appear to be driven, at least in part, by epigenetic factors that are inherited via the sperm. However, previous studies of paternal germline transmission have not addressed the role of mothers in the propagation of paternal effects to offspring. We hypothesized that paternal exposure to nutritional restriction would impact male mate quality and subsequent maternal reproductive investment with consequences for the transmission of paternal germline effects. In the current report, using embryo transfer in mice, we demonstrate that sperm factors in adult food restricted males can influence growth rate, hypothalamic gene expression and behaviour in female offspring. However, under natural mating conditions females mated with food restricted males show increased pre- and postnatal care, and phenotypic outcomes observed during embryo transfer conditions are absent or reversed. We demonstrate that these compensatory changes in maternal investment are associated with a reduced mate preference for food restricted males and elevated gene expression within the maternal hypothalamus. Therefore, paternal experience can influence offspring development via germline inheritance, but mothers can serve as a modulating factor in determining the impact of paternal influences on offspring development. © 2018 The Author(s).

  12. The effect of Tourette syndrome on the education and social interactions of a school-age child.

    Ohm, Bonnie

    2006-06-01

    Tourette syndrome is a neurological condition characterized by involuntary vocal or motor tics. Symptoms begin occurring before the age of 18 and are more common in boys than girls. Tics can change in severity and character from hour to hour or in stressful situations. Uncontrolled tics can cause self-esteem concerns, family stress, and academic difficulty. Medication and school services were employed to help the student achieve the goal of feeling more comfortable with peers and in the classroom.

  13. Cleft lip and palate: an adverse pregnancy outcome due to undiagnosed maternal and paternal coeliac disease.

    Arakeri, Gururaj; Arali, Veena; Brennan, Peter A

    2010-07-01

    Development of orofacial component involves a complex series of events. Any insult to this significant event can lead to various orofacial cleft defects. The main categories among orofacial clefts are isolated cleft palate and cleft lip with or without cleft palate. There have been many factors implicated in the development of the anomaly. The environmental factors which contribute and the genes which predispose to the condition remain obscure despite decades of research. Though it is generally agreed that folic acid deficiency is a contributory factor for non-syndromic cleft lip and palate, fewer concerns are directed towards the role for maternal/paternal nutrition in orofacial cleft origin. However, previously undescribed, here we consider the potential influence of maternal and paternal coeliac disease on the etiology of non-syndromic cleft lip and palate as an unfavorable pregnancy outcome. We postulated this relationship based on our observation, study and an empirical survey, and could be due either to (I) folic acid mal absorption (II) a genetically mediated genomic imprinting system. Copyright 2010 Elsevier Ltd. All rights reserved.

  14. STR typing of formalin-fixed paraffin embedded (FFPE) aborted foetal tissue in criminal paternity cases.

    Reshef, Ayeleth; Barash, Mark; Voskoboinik, Lev; Brauner, Paul; Gafny, Roni

    2011-03-01

    Sexual assault or rape cases occasionally result in unwanted pregnancies. In almost all such cases the foetus is aborted. A forensic laboratory may receive the foetus, the placenta, or paraffin embedded abortion material for paternity testing. Obtaining a foetal profile DNA from a foetus or placenta may not be successful due to the age or condition of the tissue. Moreover, maternal contamination of placental material will invariably result in a mixed DNA profile. However, the use of properly screened abortion material from paraffin blocks will almost always result in obtaining a foetal DNA profile. Furthermore, foetal tissue fixed in paraffin blocks does not require special conditions for submission and storage as required to preserve fresh foetal or placental tissue. As hospitals routinely prepare foetal tissue in paraffin blocks, which should be readily obtainable by forensic laboratories, these samples would appear to be the preferred choice for paternity testing. 2010 Forensic Science Society. Published by Elsevier Ireland Ltd. All rights reserved.

  15. Insomnia in school-age children with Asperger syndrome or high-functioning autism

    Smedje Hans

    2006-04-01

    Full Text Available Abstract Background Asperger syndrome (AS and high-functioning autism (HFA are pervasive developmental disorders (PDD in individuals of normal intelligence. Childhood AS/HFA is considered to be often associated with disturbed sleep, in particular with difficulties initiating and/or maintaining sleep (insomnia. However, studies about the topic are still scarce. The present study investigated childhood AS/HFA regarding a wide range of parent reported sleep-wake behaviour, with a particular focus on insomnia. Methods Thirty-two 8–12 yr old children with AS/HFA were compared with 32 age and gender matched typically developing children regarding sleep and associated behavioural characteristics. Several aspects of sleep-wake behaviour including insomnia were surveyed using a structured paediatric sleep questionnaire in which parents reported their children's sleep patterns for the previous six months. Recent sleep patterns were monitored by use of a one-week sleep diary and actigraphy. Behavioural characteristics were surveyed by use of information gleaned from parent and teacher-ratings in the High-Functioning Autism Spectrum Screening Questionnaire, and in the Strengths and Difficulties Questionnaire. Results Parent-reported difficulties initiating sleep and daytime sleepiness were more common in children with AS/HFA than in controls, and 10/32 children with AS/HFA (31.2% but none of the controls fulfilled our definition of paediatric insomnia. The parent-reported insomnia corresponded to the findings obtained by actigraphy. Children with insomnia had also more parent-reported autistic and emotional symptoms, and more teacher-reported emotional and hyperactivity symptoms than those children without insomnia. Conclusion Parental reports indicate that in childhood AS/HFA insomnia is a common and distressing symptom which is frequently associated with coexistent behaviour problems. Identification and treatment of sleep problems need to be a routine

  16. Hypokalemic paralysis in a middle-aged female with classic Bartter syndrome.

    Chiang, Wen-Fang; Lin, Shih-Hung; Chan, Jenq-Shyong; Lin, Shih-Hua

    2014-02-01

    Inherited classic Bartter syndrome (cBS) is an autosomal recessive renal tubular disorder resulting from inactivating mutations in the asolateral chloride channel (C1C-Kb) and usually presents in early infancy or childhood with mild to moderate hypokalemia. Profound hypokalemic paralysis in patients with cBS is extremely rare, especially in middle age. A 45-year-old Chinese female patient was referred for evaluation of chronic severe hypokalemia despite regular K+ supplementation (1 mmol/kg/d). She had had two episodes of muscle paralysis due to severe hypokalemia (K+ 1.9 - 2.1 mmol/l) in the past 3 years. She denied vomiting, diarrhea, or the use of laxatives or diuretics. Her blood pressure was normal. Biochemical studies showed hypokalemia (K+ 2.5 mmol/l) with renal potassium wasting, metabolic alkalosis (HCO3- 32 mmol/l), normomagnesemia (Mg2+ 0.8 mmol/l), hypercalciuria (calcium to creatinine ratio 0.5 mmol/mmol; normal < 0.22 mmol/mol), high plasma renin activity, but normal plasma aldosterone concentration. Abdominal sonography revealed neither renal stones nor nephrocalcinosis. Acquired causes of cBS such as autoimmune disease and drugs were all excluded. Molecular analysis of the CLCNKB gene, encoding ClC-Kb, and SLC12A3, encoding the thiazide-sensitive sodium chloride cotransporter (NCC), revealed compound heterozygous mutations in CLCNKB (L335P and G470E) inherited from her parents; her SLC12A3 was normal. These two mutations were not identified in 100 healthy subjects. Her plasma K+ concentration rose to 3 - 3.5 mmol/l after the addition of spironolactone. Inherited cBS may present with hypokalemic paralysis and should be considered in adult patients with hypokalemia and metabolic alkalosis.

  17. Theory of Patronized Goods. Liberal Evolution of Paternalism

    Rubinstein Aleksandr Yakovlevich

    2016-06-01

    Full Text Available The neo-classical principles of rational behavior are considered in the context of the nature of paternalism as the basis of the Theory of patronized goods. The formation of society’s normative interests is discussed in concern of political aspects. The article illustrates the theoretical and the practical aspects of the concept of consociation democracy, providing liberalization of the institutions for making political and economic decisions. The results of analysis reveal a pattern of paternalism drifting towards institutional liberalization. Proposed a hypothesis explaining why the economic policy in modern Russia still remains somewhere between archaic and merit paternalism.

  18. Influence of Paternal Age on Assisted Reproduction Outcome

    2017-04-27

    We Will Retrospectively Assess Our Databases in Our Clinic; Instituto Valenciano de Infertilidad in Valencia (Spain); Searching for Assisted Reproduction Procedures; IUI Standard IVF/ICSI Cycles and Ovum Donation IVF/ICSI Cycles; Who Were Referred to Our Unit to Cryopreserve Sperm During the Period; From January 2000 to December 2006

  19. Dusart Syndrome in a Scandinavian family characterized by arterial and venous thrombosis at young age

    Ramanathan, Ramshanker; Gram, Jørgen; Feddersen, Søren

    2013-01-01

    BACKGROUND: Dysfibrinogenemia is a rare group of qualitative fibrinogen disorders caused by structural abnormalities in the fibrinogen molecule. The laboratory diagnosis of dysfibrinogenemia is controversial. Fibrinogen Paris V, clinically termed Dusart Syndrome, is a dysfibrinogenemia caused...

  20. Ghrelin Gene Variants Influence on Metabolic Syndrome Components in Aged Spanish Population.

    Mora, Mireia; Adam, Victoria; Palomera, Elisabet; Blesa, Sebastian; Díaz, Gonzalo; Buquet, Xavier; Serra-Prat, Mateu; Martín-Escudero, Juan Carlos; Palanca, Ana; Chaves, Javier Felipe; Puig-Domingo, Manuel

    2015-01-01

    The role of genetic variations within the ghrelin gene on cardiometabolic profile and nutritional status is still not clear in humans, particularly in elderly people. We investigated six SNPs of the ghrelin gene and their relationship with metabolic syndrome (MS) components. 824 subjects (413 men/411 women, age 77.31±5.04) participating in the Mataró aging study (n = 310) and the Hortega study (n = 514) were analyzed. Anthropometric variables, ghrelin, lipids, glucose and blood pressure levels were measured, and distribution of SNPs -994CT (rs26312), -604GA (rs27647), -501AC (rs26802), R51Q (rs34911341), M72L (rs696217) and L90G (rs4684677) of the ghrelin gene evaluated. Genotypes were determined by multiplex PCR and SNaPshot minisequencing. MS (IDF criteria) was found in 54.9%. No association between any of the SNPs and levels of total fasting circulating ghrelin levels was found. C/A-A/A genotype of M72L was associated with increased risk of central obesity according to IDF criteria, while G/A-G/G genotypes of -604GA with reduced risk. A/A genotype of -501AC polymorphism was associated to decreased BMI. In relation to lipid profile, the same genotypes of -604GA were associated with increased total cholesterol and LDL-cholesterol and -501AC with reduced triglycerides. There were no associations with systolic or diastolic blood pressure levels or with hypertension, glucose levels or diabetes and ghrelin polymorphisms. However, G/G genotype of -604GA was associated with glucose >100 mg/dL. Haplotype analysis showed that only one haplotype is associated with increased risk of waist circumference and central obesity. The analysis of subjects by gender showed an important and different association of these polymorphisms regarding MS parameters. Ghrelin gene variants -604GA, -501AC and M72L are associated with certain components of MS, in particular to BMI and lipid profile in elderly Spanish subjects.

  1. Ghrelin Gene Variants Influence on Metabolic Syndrome Components in Aged Spanish Population.

    Mireia Mora

    Full Text Available The role of genetic variations within the ghrelin gene on cardiometabolic profile and nutritional status is still not clear in humans, particularly in elderly people.We investigated six SNPs of the ghrelin gene and their relationship with metabolic syndrome (MS components.824 subjects (413 men/411 women, age 77.31±5.04 participating in the Mataró aging study (n = 310 and the Hortega study (n = 514 were analyzed. Anthropometric variables, ghrelin, lipids, glucose and blood pressure levels were measured, and distribution of SNPs -994CT (rs26312, -604GA (rs27647, -501AC (rs26802, R51Q (rs34911341, M72L (rs696217 and L90G (rs4684677 of the ghrelin gene evaluated. Genotypes were determined by multiplex PCR and SNaPshot minisequencing. MS (IDF criteria was found in 54.9%.No association between any of the SNPs and levels of total fasting circulating ghrelin levels was found. C/A-A/A genotype of M72L was associated with increased risk of central obesity according to IDF criteria, while G/A-G/G genotypes of -604GA with reduced risk. A/A genotype of -501AC polymorphism was associated to decreased BMI. In relation to lipid profile, the same genotypes of -604GA were associated with increased total cholesterol and LDL-cholesterol and -501AC with reduced triglycerides. There were no associations with systolic or diastolic blood pressure levels or with hypertension, glucose levels or diabetes and ghrelin polymorphisms. However, G/G genotype of -604GA was associated with glucose >100 mg/dL. Haplotype analysis showed that only one haplotype is associated with increased risk of waist circumference and central obesity. The analysis of subjects by gender showed an important and different association of these polymorphisms regarding MS parameters.Ghrelin gene variants -604GA, -501AC and M72L are associated with certain components of MS, in particular to BMI and lipid profile in elderly Spanish subjects.

  2. Parent-of-origin effects in Turner Syndrome patients

    Wang, Jada; Styers, Marshall; Sayres, Melissa Wilson

    2015-01-01

    Turner Syndrome patients have a single X chromosome, without a partner, X or Y. It has been suggested that the inheritance of the maternal X or paternal X may affect the severity of Turner Syndrome, as well as the incidence of mental disorders in Turner Syndrome individuals. Parental imprinting on the X chromosome may lead to different phenotypic variations in Turner Syndrome patients. In this project, we conduct an analysis of the current state of research on Turner Syndrome, and review the ...

  3. Insulin resistance in pregnant women with and without polycystic ovary syndrome, and measures of body composition in offspring at birth and three years of age.

    Finnbogadóttir, Sara K; Glintborg, Dorte; Jensen, Tina K; Kyhl, Henriette B; Nohr, Ellen A; Andersen, Marianne

    2017-11-01

    Polycystic ovary syndrome is associated with obesity and insulin resistance in the non-pregnant state, but little is known about insulin sensitivity in the pregnant state. Our objective was to compare insulin resistance in pregnant women with and without polycystic ovary syndrome and explore the impact of polycystic ovary syndrome on body composition in offspring at birth and at three years of age. A prospective cohort study including 2548 live-born singleton mother-child pairs residing in Odense municipality, Denmark, during 2010-2013. Of the 2548 women, 241 (9.4%) had polycystic ovary syndrome. Homeostatic model assessment for insulin resistance assessments were comparable in women with and without polycystic ovary syndrome. However, the subgroup of overweight women with polycystic ovary syndrome had significantly higher levels of homeostatic model assessment for insulin resistance than overweight women without polycystic ovary syndrome (mean ± 2 SD): 4.4 (3.1) vs. 3.6 (3.4), p = 0.004. Maternal polycystic ovary syndrome did not affect offspring birthweight after accounting for age. However, polycystic ovary syndrome, adjusted for maternal body mass index, was associated with increased body mass index at three years of age (mean ± 2 SD): 16.0 (2.2) vs. 15.7 (2.1) kg/m 2 , p = 0.04. In our cohort, maternal polycystic ovary syndrome was not associated with insulin resistance after correcting for body mass index and was not an independent predictor of offspring birthweight. However, both polycystic ovary syndrome and high maternal body mass index may increase risk of childhood obesity at three years of age. © 2017 Nordic Federation of Societies of Obstetrics and Gynecology.

  4. Age-Related Changes in Gustatory, Homeostatic, Reward, and Memory Processing of Sweet Taste in the Metabolic Syndrome: An fMRI Study.

    Jacobson, Aaron; Green, Erin; Haase, Lori; Szajer, Jacquelyn; Murphy, Claire

    2017-01-01

    Age affects the human taste system at peripheral and central levels. Metabolic syndrome is a constellation of risk factors (e.g., abdominal obesity and hypertension) that co-occur, increase with age, and heighten risk for cardiovascular disease, diabetes, and cognitive decline. Little is known about how age, metabolic syndrome, and hunger state interact to influence how the brain processes information about taste. We investigated brain activation during the hedonic evaluation of a pleasant, nutritive stimulus (sucrose) within regions critical for taste, homeostatic energy regulation, and reward, as a function of the interactions among age, metabolic syndrome, and hunger condition. We scanned young and elderly adults, half with risk factors associated with metabolic syndrome twice: Once fasted overnight and once after a preload. Functional magnetic resonance imaging data indicated significant effects of age as well as interactive effects with metabolic syndrome and hunger condition. Age-related differences in activation were dependent on the hunger state in regions critical for homoeostatic energy regulation and basic as well as higher order sensory processing and integration. The effects of age and metabolic syndrome on activation in the insula, orbital frontal cortex, caudate, and the hypothalamus may have particularly important implications for taste processing, energy regulation, and dietary choices.

  5. Age-related differences in features associated with polycystic ovary syndrome in normogonadotrophic oligo-amenorrhoeic infertile women of reproductive years

    H. Bili; B. Imani (Babak); M.J.C. Eijkemans (René); B.C.J.M. Fauser (Bart); J.S.E. Laven (Joop)

    2001-01-01

    textabstractOBJECTIVE: To assess the effect of age on clinical, endocrine and sonographic features associated with polycystic ovary syndrome (PCOS) in normogonadotrophic anovulatory infertile women of reproductive years. DESIGN: Cross-sectional study. METHODS: Four hundred and

  6. Preschool Psychopathology Reported by Parents in 23 Societies: Testing the Seven-Syndrome Model of the Child Behavior Checklist for Ages 1.5–5

    Ivanova, Masha Y.; Achenbach, Thomas M.; Rescorla, Leslie A.; Harder, Valerie S.; Ang, Rebecca P.; Bilenberg, Niels; Bjarnadottir, Gudrun; Capron, Christiane; De Pauw, Sarah S.W.; Dias, Pedro; Dobrean, Anca; Doepfner, Manfred; Duyme, Michele; Eapen, Valsamma; Erol, Nese; Esmaeili, Elaheh Mohammad; Ezpeleta, Lourdes; Frigerio, Alessandra; Gonçalves, Miguel M.; Gudmundsson, Halldor S.; Jeng, Suh-Fang; Jetishi, Pranvera; Jusiene, Roma; Kim, Young-Ah; Kristensen, Solvejg; Lecannelier, Felipe; Leung, Patrick W.L.; Liu, Jianghong; Montirosso, Rosario; Oh, Kyung Ja; Plueck, Julia; Pomalima, Rolando; Shahini, Mimoza; Silva, Jaime R.; Simsek, Zynep; Sourander, Andre; Valverde, Jose; Van Leeuwen, Karla G.; Woo, Bernardine S.C.; Wu, Yen-Tzu; Zubrick, Stephen R.; Verhulst, Frank C.

    2014-01-01

    Objective To test the fit of a seven-syndrome model to ratings of preschoolers' problems by parents in very diverse societies. Method Parents of 19,106 children 18 to 71 months of age from 23 societies in Asia, Australasia, Europe, the Middle East, and South America completed the Child Behavior Checklist for Ages 1.5–5 (CBCL/1.5–5). Confirmatory factor analyses were used to test the seven-syndrome model separately for each society. Results The primary model fit index, the root mean square error of approximation (RMSEA), indicated acceptable to good fit for each society. Although a six-syndrome model combining the Emotionally Reactive and Anxious/Depressed syndromes also fit the data for nine societies, it fit less well than the seven-syndrome model for seven of the nine societies. Other fit indices yielded less consistent results than the RMSEA. Conclusions The seven-syndrome model provides one way to capture patterns of children's problems that are manifested in ratings by parents from many societies. Clinicians working with preschoolers from these societies can thus assess and describe parents' ratings of behavioral, emotional, and social problems in terms of the seven syndromes. The results illustrate possibilities for culture–general taxonomic constructs of preschool psychopathology. Problems not captured by the CBCL/1.5–5 may form additional syndromes, and other syndrome models may also fit the data. PMID:21093771

  7. Noninvasive prenatal paternity testing (NIPAT) through maternal plasma DNA sequencing

    Jiang, Haojun; Xie, Yifan; Li, Xuchao

    2016-01-01

    developed a noninvasive prenatal paternity testing (NIPAT) based on SNP typing with maternal plasma DNA sequencing. We evaluated the influence factors (minor allele frequency (MAF), the number of total SNP, fetal fraction and effective sequencing depth) and designed three different selective SNP panels......Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA. The frequently used technologies were PCR followed by capillary electrophoresis and SNP typing array, respectively. Here, we...... paternity test using STR multiplex system. Our study here proved that the maternal plasma DNA sequencing-based technology is feasible and accurate in determining paternity, which may provide an alternative in forensic application in the future....

  8. the realities surrounding the applicability of medical paternalism

    theories and arguments for and against medical paternalism, this study further ... situations yet the process of medical decision ... Poststgraduate School, Faculty of Law, University of Ilorin, Ilorin, Nigeria. ..... 'patient-centered' medicine now.

  9. Paternal exposure and counselling: experience of a Teratology Information Service.

    De Santis, Marco; Cesari, Elena; Cavaliere, Annafranca; Ligato, Maria Serena; Nobili, Elena; Visconti, Daniela; Caruso, Alessandro

    2008-09-01

    We describe paternal exposure and counselling in a selected population calling to an Italian Teratology Information Service (TIS). The majority of callers asked for paternal drug exposure (76%, drugs except chemotherapy) and treatment for cancer (17%, chemotherapy and/or radiotherapy). Others asked for exposure to diagnostic radiations (4%), recreational drugs (2%) and occupational chemicals (1%). Among paternal drugs neurological compounds, immunosuppressive drugs and antiviral agents were the main reasons for calling. In humans, there are no evidences of birth defects after paternal exposures, but to minimize any possible risk, counselling in men exposed to radio and chemotherapy should recommend delaying conception for at least 3 months after the end of the therapy. Male patients treated with drugs, whose teratogenic potential has been well assessed or suspected for maternal exposure, should be advised to practice effective birth control during therapy and up to one or two cycles of spermatogenesis and to avoid semen contact with vaginal walls during first trimester of pregnancy.

  10. Paternal programming of offspring cardiometabolic diseases in later life

    Li, Jian; Tsuprykov, Oleg; Yang, Xiaoping; Hocher, Berthold

    2016-01-01

    Early – intrauterine – environmental factors are linked to the development of cardiovascular disease in later life. Traditionally, these factors are considered to be maternal factors such as maternal under and overnutrition, exposure to toxins, lack of micronutrients, and stress during pregnancy. However, in the recent years, it became obvious that also paternal environmental factors before conception and during sperm development determine the health of the offspring in later life. We will first describe clinical observational studies providing evidence for paternal programming of adulthood diseases in progeny. Next, we describe key animal studies proving this relationship, followed by a detailed analysis of our current understanding of the underlying molecular mechanisms of paternal programming. Alterations of noncoding sperm micro-RNAs, histone acetylation, and targeted as well as global DNA methylation seem to be in particular involved in paternal programming of offspring's diseases in later life. PMID:27457668

  11. Canine Paternity Testing--Using Personal Experiences To Teach Science.

    Rascati, Ralph J.

    2002-01-01

    Outlines how an example from the field of animal husbandry is used in a DNA Technology course to motivate students to take a deeper interest in the material. Focuses on paternity testing in dogs. (DDR)

  12. 45 CFR 303.5 - Establishment of paternity.

    2010-10-01

    ... paternity in any case involving incest or forcible rape, or in any case in which legal proceedings for... through video or audio equipment, and in writing, of the alternatives to, the legal consequences of, and...

  13. Paternal social experience affects male reproductive behaviour in ...

    [Dasgupta P., Halder S. and Nandy B. 2016 Paternal social experience affects male reproductive behaviour in Drosophila .... allowed to the competitor male to interact with the female. Following ... conditions including maternal environment.

  14. Changes in Angiotensin Receptor Distribution and in Aortic Morphology Are Associated with Blood Pressure Control in Aged Metabolic Syndrome Rats

    Verónica Guarner-Lans

    2016-01-01

    Full Text Available The role of the renin-angiotensin system (RAS in blood pressure regulation in MS during aging is unknown. It participates in metabolic syndrome (MS and aging regulating vascular tone and remodeling. RAS might participate in a compensatory mechanism decreasing blood pressure and allowing MS rats to reach 18 months of age and it might form part of therapeutical procedures to ameliorate MS. We studied histological changes and distribution of RAS receptors in aortas of MS aged rats. Electron microscopy images showed premature aging in MS since the increased fibrosis, enlarged endothelium, and invasion of this layer by muscle cells that was present in control 18-month-old aortas were also found in 6-month-old aortas from MS rats. AT1, AT2, and Mas receptors mediate the effects of Ang II and Ang 1-7, respectively. Fluorescence from AT2 decreased with age in control and MS aortas, while fluorescence of AT1 increased in aortas from MS rats at 6 months and diminished during aging. Mas expression increased in MS rats and remained unchanged in control rats. In conclusion, there is premature aging in the aortas from MS rats and the elevated expression of Mas receptor might contribute to decrease blood pressure during aging in MS.

  15. Low birthweight and prematurity in relation to paternal factors

    Basso, Olga; Olsen, Jørn; Christensen, Kaare

    1999-01-01

    BACKGROUND: The importance of paternal determinants in the occurrence of low birthweight and prematurity is not well known. We investigated these outcomes in siblings and paternal half siblings as a function of changes in putative external determinants between two births in fathers who had...... experienced the birth of a premature and/or low birthweight (PTB/LBW) infant. METHODS: All fathers who, between 1980 and 1992, had an infant born before 37 completed weeks' gestation or weighing

  16. Eating behavior, prenatal and postnatal growth in Angelman syndrome

    Mertz, Line Granild Bie; Christensen, Rikke; Vogel, Ida

    2014-01-01

    to children with a deletion. At birth, one child showed microcephaly. At five years of age, microcephaly was observed in half of the deletion cases, but in none Of the cases with a UBE3A mutation or pUPD. The apparently normal cranial growth in the UBE3A and pUPD patients should however be regarded......The objectives of the present study were to investigate eating behavior and growth parameters in Angelman syndrome. We included 39 patients with Angelman syndrome. Twelve cases had a larger Class I deletion, eighteen had a smaller Class II deletion, whereas paternal uniparental disomy (p......UPD) or a verified UBE3A mutation were present in five and four cases, respectively. Eating behavior was assessed by a questionnaire. Anthropometric measures were obtained from medical records and compared to Danish reference data. Children with pUPD had significantly larger birth weight and birth length than...

  17. Prader-Willi syndrome: a case report with atypical developmental features.

    Sewaybricker, Letícia E; Guaragna-Filho, Guilherme; Paula, Georgette B; Andrade, Juliana G R; Tincani, Bruna J; D'Souza-Li, Lília; Lemos-Marini, Sofia H V; Maciel-Guerra, Andréa T; Guerra-Júnior, Gil

    2014-09-01

    To describe the case of a male Prader-Willi syndrome (PWS) patient with atypical development features. We report the case of a male adolescent with confirmed diagnosis of PWS which presents atypical phenotype. The patient progressed with spontaneous and complete pubertal development, stature in the normal range, and weight control without any pharmacological treatment, except metformin. PWS is an imprinting paternally inherited disorder of 15q11-13 characterized by hypotonia in infant age, hyperphagia, varied degrees of mental retardation, behavior problems, hypogonadism, short stature, and other less common findings.

  18. Proteus syndrome in a child aged 14 years and 11 months

    T. V. Elizarova

    2017-01-01

    Full Text Available Proteus syndrome is an extremely rare genetic disorder with problematic genetic identification. It has been hypothesized that it is related to a lethal dominant somatic mutation occurring at a post-zygotic stage of embryonic development. Clinical presentation of the disease has much in common with a  number of hereditary disorders and is frequently associated with malignancies. We present a clinical case of Proteus syndrome in a child aged 14 years and 11 months, in whom late diagnosis and late administration of specific treatment resulted in disease progression with the development of the end stage chronic renal disease. Only correct and early diagnosis allows for timely referral of a  patient to a specialized hospital for adequate care.

  19. Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies.

    Ryan, Neil A J; Morris, Julie; Green, Kate; Lalloo, Fiona; Woodward, Emma R; Hill, James; Crosbie, Emma J; Evans, D Gareth

    2017-12-01

    Lynch syndrome is caused by dominantly inherited germline mutations that predispose individuals to colorectal, endometrial, ovarian, and other cancers through inactivation of the cellular mismatch repair system. Lynch syndrome–associated cancers are amenable to surveillance strategies that may improve survival. The age at which surveillance should start is disputed. To determine whether mutated gene and type of mutation influence age at onset of Lynch syndrome–associated cancers. A retrospective cohort study of individuals with Lynch syndrome–associated colorectal, endometrial, and/or ovarian cancers whose medical records were included in the clinical database of a large quaternary referral center for genomic medicine in the Northwest of England. Mutated gene (MLH1, MSH2, MSH6, and/or PMS2) and type of mutation (truncating, splicing, or large rearrangement). Age at cancer diagnosis. A total of 1063 individuals with proven Lynch syndrome were included, 495 male and 568 female (mean age 52 years; age range, 10-93 years [children were included in the database, but no children developed cancer]). There were 546 men and women with colorectal cancer, 162 women with endometrial cancer, and 49 women with ovarian cancer; mean follow-up was 68.2 months. Among MLH1 mutation carriers, mutations in MLH1 were associated with colorectal cancer in 249 (61%) of 409 men and women; endometrial cancer in 53 of 196 (27%) women; and ovarian cancer in 15 (8%) of 196 women. Among MSH2 mutation carriers, mutations in MSH2 (the most prevalent mutations overall) were most commonly associated with female-specific cancers: endometrial cancer in 83 (30%) of 279 women; ovarian cancer in 28 (10%) of 279 women; and colorectal cancer in 239 (50%) 479 men and women. Mutations in MSH6 were less prevalent, and MSH6 mutation carriers presented with colorectal and endometrial cancer at later ages than carriers of mutations in MSH2 or MLH1. When stratified by mutation type, women with truncating

  20. AGE AND GENDER MAY INFLUENCE THE RESULTS OF ROUX-EN-Y GASTRIC BYPASS? Metabolic syndrome parameters

    Stephan Garcia ANDRADE-SILVA

    2014-09-01

    Full Text Available Context Severe obesity affects the body favoring the development of serious diseases, including hypertension, diabetes mellitus, atherosclerosis and non alcoholic fatty liver disease. Bariatric procedures increased in Brazil in the last decade. Objectives The purpose of this study was to verify if gender and age in date of procedure resulted significant differences in metabolic syndrome parameters after surgery. Methods The study involved 205 medical records of adult patients undergoing Roux-en-Y gastric bypass, stratified by gender and age groups and followed one year by a multidisciplinary team. Results It was observed significant decrease in body mass index, fasting glucose and insulin at all ages and both genders. Lipid profile showed significant improvements except high density lipoprotein cholesterol. Ectopic fat in the liver has decreased after 6 months in patients classified with steatosis at baseline. Patients classified as hypertensive blood pressure levels decreased 6 months after surgical intervention. Conclusions Roux-en-Y gastric bypass proved to be an important tool in remission of metabolic syndrome parameters. The reduction of body mass accompanied to decrease in insulin resistance resulted in lower prevalence of comorbidities associated with obesity. The benefits were similar and extended both genders and all age groups between 18 and 65 years old.

  1. The making and breaking of paternity secrets in donor insemination.

    Turney, Lyn

    2010-07-01

    This paper analyses the complex issues faced by regulators of the infertility treatment industry in response to the social and technological changes that heralded a new openness in knowledge about genetics, paternity and the concomitant need for donor offspring to know their genetic origins. The imperative for full information about their donor and biological father, who contributed to their creation and half of their genome, was an outcome unanticipated by the architects of the donor insemination programme. Genetic paternity testing realised the possibility of fixed and certain knowledge about paternity. This paper outlines medicine's role in the formation of normative families through the use of donor insemination. Extending information from an Australian study on the use of DNA paternity testing, it analyses what the social and scientific changes that have emerged and gained currency in the last several decades mean for the new 'openness' and the role of paternity testing in this context. It concludes with recommendations about how to deal with the verification of paternity in linking donor conceived adult children to their donor.

  2. Multiple paternity in the cultured yellow pond turtles (Mauremys mutica).

    Zhang, Xin-Cheng; Zhao, Jian; Li, Wei; Wei, Cheng-Qing; Zhu, Xin-Ping

    2017-08-01

    As a result of hunting and habitat loss, wild populations of the yellow pond turtle, Mauremys mutica, are decreasing. The International Union for Conservation of Nature considers M. mutica to be an endangered species. All studied freshwater turtles have polyandrous mating with multiple paternity. To survey the mating strategies of M. mutica, 1year's genetic data of parents and all offspring in an artificially captive population were analyzed. Two groups of multiplex PCR containing 16 microsatellite loci were used to analyze the paternity of 302 hatchlings from 132 parents and from 159 clutches. The genetic data indicated that multiple paternity is rare in M. mutica, occurring in only seven of 138 clutches. Although the frequency of multiple paternity was only 5.07%, results of the present research indicate that M. mutica has a polyandrous mating system. In the breeding season, the successive clutches of 34 females each had the same paternity as the previous clutches. It was observed that four males (f85, f58, f87, and f76) had more than 20 offspring each, totaling 99 and representing 32.78% of all offspring. This finding implies that paternity is competitive in this artificially captive population and might bias the genetic diversity of the offspring. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. Early maternal and paternal bonding, childhood physical abuse and adult psychopathic personality

    Gao, Y.; Raine, A.; Chan, F.; Venables, P. H.; Mednick, S. A.

    2013-01-01

    Background A significant gap in the literature on risk factors for psychopathy is the relative lack of research on parental bonding. Method This study examines the cross-sectional relationship between maternal and paternal bonding, childhood physical abuse and psychopathic personality at age 28 years in a community sample of 333 males and females. It also assesses prospectively whether children separated from their parents in the first 3 years of life are more likely to have a psychopathic-like personality 25 years later. Results Hierarchical regression analyses indicated that: (1) poor parental bonding (lack of maternal care and low paternal overprotection) and childhood physical abuse were both associated with a psychopathic personality; (2) parental bonding was significantly associated with psychopathic personality after taking into account sex, social adversity, ethnicity and abuse; (3) those separated from parents in the first 3 years of life were particularly characterized by low parental bonding and a psychopathic personality in adulthood; and (4) the deviant behavior factor of psychopathy was more related to lack of maternal care whereas the emotional detachment factor was related to both lack of maternal care and paternal overprotection. Conclusions Findings draw attention to the importance of different components of early bonding in relation to adult psychopathy, and may have potential implications for early intervention and prevention of psychopathy. PMID:20441692

  4. Paternal overprotection in obsessive-compulsive disorder and depression with obsessive traits.

    Yoshida, Takafumi; Taga, Chiaki; Matsumoto, Yoshitake; Fukui, Kenji

    2005-10-01

    Previous studies have indicated that a parental rearing style showing a low level of care on the parental bonding instrument (PBI) is a risk factor for depression, and that there is a relationship between the overprotective rearing style on the PBI and obsessive-compulsive disorder (OCD). However, there is no study on the parental rearing attitudes in depressive patients divided into two groups based on their obsessive traits. In this study, we evaluated the parental rearing attitudes and examined the differences among four groups: depressive patients with severe obsessive traits, depressive patients with mild obsessive traits, OCD patients, and healthy volunteers. We divided the depressive patients into severe and mild groups based on their obsessive traits on the Mausdley Obsessional-Compulsive Inventory (MOCI). We compared PBI scores among four groups of 50 subjects matched for age and sex: depressive patients with severe obsessive traits, depressive patients with mild obsessive traits, OCD patients, and healthy volunteers. The paternal protection scores in the depressive patients with severely obsessive traits and the OCD patients were significantly higher than those in the depressive patients with mildly obsessive traits and healthy volunteers. This study indicated that the depressive patients with severe obsessive traits and the OCD patients have similar paternal controlling and interfering rearing attitudes. We conclude that the paternal controlling and interfering rearing attitudes are linked to the development of OCD and depression with obsessive traits, and are not linked to the development of depression itself.

  5. Family Economic Stress, Quality of Paternal Relationship, and Depressive Symptoms among African American Adolescent Fathers

    Hunt, Tenah K. A.; Caldwell, Cleopatra H.; Assari, Shervin

    2015-01-01

    This study examined the association between perceived family economic stress, quality of father-son relationships, and depressive symptoms among African American adolescent fathers. Data were collected during pregnancy from 65 African American adolescents who were first-time fathers, ages 14-19. Results from multiple regression analyses indicated that higher paternal relationship satisfaction was associated with fewer depressive symptoms among adolescent fathers. Additionally, depressive symptoms were higher among adolescent fathers who reported experiencing higher levels of conflict with their fathers. Further, paternal conflict moderated the effect of perceived family economic stress on depressive symptoms. That is, among adolescent fathers experiencing low levels of conflict with their fathers, high perceived family economic stress was associated with more depressive symptoms. Study findings suggest that the risk for depressive symptoms is highest among adolescent fathers experiencing low family economic stress and highly conflictual relations with their fathers. These results highlight the complexities of paternal relationships and perceived economic stressors on depressive symptoms during pregnancy for African American adolescent fathers. The importance of expanding research on influential familial relationships and economic stressors on adolescent African American fathers is discussed. PMID:26617454

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

    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

  7. A Comparison of Maternal and Paternal Experiences of Becoming Parents of a Very Preterm Infant.

    Provenzi, Livio; Barello, Serena; Fumagalli, Monica; Graffigna, Guendalina; Sirgiovanni, Ida; Savarese, Mariarosaria; Montirosso, Rosario

    2016-01-01

    To compare maternal and paternal experiences of very preterm (VPT) birth (gestational age < 32 weeks) and the NICU stay. Qualitative study. Data collection took place at parents' homes 3 to 6 months after NICU discharge. Ten parental couples participated in the study (20 parents). All VPT infants were healthy, without any neonatal or postnatal complications or injuries. Computer-assisted content analysis was used to highlight thematic clusters from parents' narratives, which were labeled through qualitative interpretation. Two main dimensions (Adjustment Process to Preterm Birth and Parental Role Assumption) and three main thematic clusters (Facing the Unexpected, Learning to Parent, and Finally Back Home) described the parental experience. Mothers focused mostly on the Finally Back Home cluster, which was characterized by moderate levels of adjustment to preterm birth and by awareness of their own maternal roles. Fathers focused mostly on the Learning to Parent cluster, which was characterized by low to moderate levels of adjustment to preterm birth and by a limited assumption of paternal role. To our knowledge, this study is unique in that we compared mothers and fathers who experienced the VPT births of their infants and described their experiences of the NICU stay. We found that the VPT birth experience for parents involves a dynamic adjustment. Differences in maternal and paternal experiences may indicate the need for tailored supportive interventions in the NICU. Copyright © 2016 AWHONN, the Association of Women's Health, Obstetric and Neonatal Nurses. Published by Elsevier Inc. All rights reserved.

  8. [The concept and definition of locomotive syndrome in a super-aged society].

    Nakamura, Kozo; Yoshimura, Noriko; Akune, Toru; Ogata, Toru; Tanaka, Sakae

    2014-10-01

    The population of elderly individuals who need nursing care is rapidly increasing in Japan. Locomotive syndrome involves a decrease in mobility due to locomotive organ dysfunction, and increases risk for dependency on nursing care service. Because gait speed and chair stand time are correlated with such risks, patients with locomotive syndrome are assessed using brief methods such as the two-step test, which involves dividing the maximum stride length by the height of the patient, and the stand-up test, which involves standing on one or both legs at different heights. One leg standing and squatting are recommended as beneficial locomotive home exercises. Locomotive syndrome has been recognized widely in Japan, and included in the National Health Promotion Movement (2013-2022).

  9. The buccal cytome and micronucleus frequency is substantially altered in Down's syndrome and normal ageing compared to young healthy controls

    Thomas, Philip; Harvey, Sarah; Gruner, Tini; Fenech, Michael

    2008-01-01

    The buccal micronucleus cytome assay was used to investigate biomarkers for DNA damage, cell death and basal cell frequency in buccal cells of healthy young, healthy old and young Down's syndrome cohorts. With normal ageing a significant increase in cells with micronuclei (P < 0.05, average increase +366%), karyorrhectic cells (P < 0.001, average increase +439%), condensed chromatin cells (P < 0.01, average increase +45.8%) and basal cells (P < 0.001, average increase +233%) is reported relative to young controls. In Down's syndrome we report a significant increase in cells with micronuclei (P < 0.001, average increase +733%) and binucleated cells (P < 0.001, average increase +84.5%) and a significant decrease in condensed chromatin cells (P < 0.01, average decrease -52%), karyolytic cells (P < 0.001, average decrease -51.8%) and pyknotic cells (P < 0.001, average decrease -75.0%) relative to young controls. These changes show distinct differences between the cytome profile of normal ageing relative to that for a premature ageing syndrome, and highlight the diagnostic value of the cytome approach for measuring the profile of cells with DNA damage, cell death and proportion of cells with proliferative potential (i.e., basal cells). Significant correlations amongst cell death biomarkers observed in this study were used to propose a new model of the inter-relationship of cell types scored within the buccal micronucleus cytome assay. This study validates the use of a cytome approach to investigate DNA damage, cell death and cell proliferation in buccal cells with ageing

  10. Schizophrenia and birthplace of paternal and maternal grandfather in the Jerusalem perinatal cohort prospective study.

    Harlap, S; Perrin, M C; Deutsch, L; Kleinhaus, K; Fennig, S; Nahon, D; Teitelbaum, A; Friedlander, Y; Malaspina, D

    2009-06-01

    Some forms of epigenetic abnormalities transmitted to offspring are manifested in differences in disease incidence that depend on parent-of-origin. To explore whether such phenomena might operate in schizophrenia spectrum disorders, we estimated the relative incidence of these conditions in relation to parent-of-origin by considering the two grandfathers' countries of birth. In a prospective cohort of 88,829 offspring, born in Jerusalem in 1964-76 we identified 637 cases through Israel's psychiatric registry. Relative risks (RR) were estimated for paternal and maternal grandfathers' countries of birth using proportional hazards methods, controlling for parents' ages, low social class and duration of marriage. After adjusting for multiple observations, we found no significant differences between descendants of maternal or paternal grandfathers born in Iraq, Iran, Turkey, Syria, Yemen, Morocco, Algeria, Tunisia, Libya/Egypt, Poland, USSR, Czechoslovakia, Germany or the USA. Those with paternal grandfathers from Romania (RR=1.9, 95% CI=1.3-2.8) or Hungary (1.6, 1.0-2.6) showed an increased incidence; however, those with maternal grandfathers from these countries experienced reduced incidence (RR=0.5, 0.3-0.8 and 0.4, 0.2-0.8). In post-hoc analyses we found that results were similar whether the comparison groups were restricted to descendants of other Europeans or included those from Western Asia and North Africa; and effects of paternal grandfathers from Romania/Hungary were more pronounced in females, while effects of maternal grandfathers from these countries were similar in males and females. These post-hoc "hypothesis-generating" findings lead one to question whether some families with ancestors in Romania or Hungary might carry a variant or mutation at a parentally imprinted locus that is altering susceptibility to schizophrenia. Such a locus, if it exists, might involve the X chromosome.

  11. SCHIZOPHRENIA AND BIRTHPLACE OF PATERNAL AND MATERNAL GRANDFATHER IN THE JERUSALEM PERINATAL COHORT PROSPECTIVE STUDY

    Harlap, S; Perrin, M C; Deutsch, L; Kleinhaus, K; Fennig, S; Nahon, D; Teitelbaum, A; Friedlander, Y; Malaspina, D

    2009-01-01

    Some forms of epigenetic abnormalities transmitted to offspring are manifest in differences in disease incidence that depend on parent-of-origin. To explore whether such phenomena might operate in schizophrenia spectrum disorders, we estimated the relative incidence of these conditions in relation to parent-of-origin by considering the two grandfathers' countries of birth. In a prospective cohort of 88,829 offspring, born in Jerusalem in 1964–76 we identified 637 cases through Israel's psychiatric registry. Relative risks (RR) were estimated for paternal and maternal grandfathers' countries of birth using proportional hazards methods, controlling for parents' ages, low social class and duration of marriage. After adjusting for multiple observations, we found no significant differences between descendants of maternal or paternal grandfathers born in Iraq, Iran, Turkey, Syria, Yemen, Morocco, Algeria, Tunisia, Libya/Egypt, Poland, USSR, Czechoslovakia, Germany or the USA. Those with paternal grandfathers from Romania (RR=1.9, 95% CI=1.3–2.8) or Hungary (1.6, 1.0–2.6) showed an increased incidence; however, those with maternal grandfathers from these countries experienced reduced incidence (RR=0.5, 0.3–0.8 and 0.4, 0.2–0.8). In post-hoc analyses we found that results were similar whether the comparison groups were restricted to descendants of other Europeans or included those from Western Asia and North Africa; and effects of paternal grandfathers from Romania/Hungary were more pronounced in females, while effects of maternal grandfathers from these countries were similar in males and females. These post-hoc “hypothesis-generating” findings lead one to question whether some families with ancestors in Romania or Hungary might carry a variant or mutation at a parentally imprinted locus that is altering susceptibility to schizophrenia. Such a locus, if it exists, might involve the X chromosome. PMID:19361958

  12. Age, gender, and socioeconomic gradients in metabolic syndrome: biomarker evidence from a large sample in Taiwan, 2005-2013.

    Wu, Hania F; Tam, Tony; Jin, Lei; Lao, Xiang Q; Chung, Roger Yat-Nork; Su, Xue F; Zee, Benny

    2017-05-01

    To examine the age and gender heterogeneities in the association between socioeconomic status (SES) and the risk of metabolic syndrome (MetS) with biomarker data from Taiwan. Subjects included 102,201 men and 112,015 women aged 25 and above, from the 2005-2013 MJ Health Survey in Taiwan. SES was measured by education and family income. MetS was defined by the Adult Treatment Panel III criteria for Asian population. Logistic regression analyses were performed by age and gender groups. (1) Higher education level was associated with significantly lower risk of MetS. (2) Higher income was associated with lower MetS risk among women aged under 65, but no association among men of all ages. (3) SES gradients were generally much stronger among women than among men of the same age group. (4) SES gradients reduced over the life course with the exception that income gradient remains flat among men of all ages. Among Chinese in Taiwan, the gender and age heterogeneities in the SES gradients in MetS are similar to those reported for Western societies. This cross-cultural convergence is broadly consistent with the general hypothesis that social conditions are fundamental causes of diseases and health disparities. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Age threshold for moderate and severe periodontitis among Korean adults without diabetes mellitus, hypertension, metabolic syndrome, and/or obesity.

    Han, Kyungdo; Park, Jun-Beom

    2017-08-01

    The purpose of this study is to determine an appropriate age threshold at which to recommend the evaluation of moderate and severe periodontitis among Korean adults.This study involved a cross-sectional analysis using data from the Korean National Health and Nutrition Examination Survey from 2012 to 2014. Incidence rates of periodontitis with the 95% confidence interval (CI) were evaluated. The predictive accuracy of age for periodontitis was determined by calculating the area under curve (AUC) on the basis of the receiver operating characteristic (ROC) curve.The cutoff value of age was 43 years in men having periodontitis with an AUC of 0.70 with 95% CI of 0.69 to 0.72. The AUC was 0.72 (95% CI: 0.70-0.73), and the cutoff value of age (49 years) was identified for the moderate periodontitis in women. The cutoff values for age with AUCs and 95% CI for individuals with periodontitis were 46 years (0.72 [0.71-0.73]), 43 years (0.73 [0.72, 0.74]), 45 years (0.71 [0.70,0.72]), 43 years (0.73 [0.72, 0.74]), and 45 years (0.74 [0.72, 0.75]) for no obesity, no abdominal obesity, no diabetes mellitus, no hypertension, and no metabolic syndrome groups, respectively.This study proposed the guideline for the appropriate age threshold at which to recommend the evaluation of moderate and severe periodontitis for the general population and additionally added the guideline for the individuals without systemic disease including diabetes mellitus, hypertension, metabolic syndrome, and obesity. This study suggests that the participants with certain age may be recommended for the regular periodontal evaluation.

  14. Wolff-Parkinson-White syndrome in young people, from childhood to young adulthood: relationships between age and clinical and electrophysiological findings

    Jung, Hae Jung; Ju, Hwang Young; Hyun, Myung Chul; Lee, Sang Bum

    2011-01-01

    Purpose The aim of the present study was to evaluate the characteristics of electrophysiologic studies (EPS) and radiofrequency ablation (RFA) performed in subjects aged less than 30 years with Wolff-Parkinson-White (WPW) syndrome, particularly pediatric patients under 18 years of age, based on our experience. Methods Two hundred and one consecutive patients with WPW syndrome were recruited and divided to 3 groups according to age: group 1, 6 to 17 years; group 2, 18 to 29 years; and group 3, 30 to 60 years. The clinical, electrophysiological, and therapeutic data for these patients were evaluated by a retrospective medical record review. Results A total of 73 (36%) of these patients were syndrome. Therefore, when EPS and RFA are performed in children and adolescence with WPW syndrome, we recommend that these characteristics be considered. PMID:22323907

  15. Sleep Disturbance and Expressive Language Development in Preschool-Age Children with Down Syndrome

    Edgin, Jamie O.; Tooley, Ursula; Demara, Bianca; Nyhuis, Casandra; Anand, Payal; Spanò, Goffredina

    2015-01-01

    Recent evidence has suggested that sleep may facilitate language learning. This study examined variation in language ability in 29 toddlers with Down syndrome (DS) in relation to levels of sleep disruption. Toddlers with DS and poor sleep (66%, n = 19) showed greater deficits on parent-reported and objective measures of language, including…

  16. Aging rather than aneuploidy affects monoamine neurotransmitters in brain regions of Down syndrome mouse models

    Dekker, Alain D; Vermeiren, Yannick; Albac, Christelle; Lana-Elola, Eva; Watson-Scales, Sheona; Gibbins, Dorota; Aerts, Tony; Van Dam, Debby; Fisher, Elizabeth M C; Tybulewicz, Victor L J; Potier, Marie-Claude; De Deyn, Peter P

    Altered concentrations of monoamine neurotransmitters and metabolites have been repeatedly found in people with Down syndrome (DS, trisomy 21). Because of the limited availability of human post-mortem tissue, DS mouse models are of great interest to study these changes and the underlying

  17. Adaptive Behaviour in Angelman Syndrome: Its Profile and Relationship to Age

    Gasca, C. Brun; Obiols, J. E.; Bonillo, A.; Artigas, J.; Lorente, I.; Gabau, E.; Guitart, M.; Turk, J.

    2010-01-01

    Background: Angelman syndrome (AS) is a neurodevelopmental disorder usually caused by an anomaly in the maternally inherited chromosome 15. The main features are severe intellectual disability, speech impairment, ataxia, epilepsy, sleep disorder and a behavioural phenotype that reportedly includes happy disposition, attraction to/fascination with…

  18. Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: three case reports.

    Voermans, N.C.; Hosman, A.J.F.; Alfen, N. van; Bartels, R.H.M.A.; Kleuver, M. de; Akker, J.W. op den; Engelen, B.G.M. van

    2010-01-01

    Marfan syndrome is a inherited connective tissue disorder due to mutations in fibrillin-1. It presents with cardiovascular, ocular, skeletal, pulmonary and dural signs and symptoms. Some of the symptoms of later onset are those associated with scoliosis and dural ectasia. This is the enlargement of

  19. Syndromes of collateral-reported psychopathology for ages 18-59 in 18 Societies

    Ivanova, Masha Y.; Achenbach, Thomas M.; Rescorla, Leslie A.; Turner, Lori V.; Árnadóttir, Hervör Alma; Au, Alma; Caldas, J. Carlos; Chaalal, Nebia; Chen, Yi Chuen; da Rocha, Marina M.; Decoster, Jeroen; Fontaine, Johnny R.J.; Funabiki, Yasuko; Guðmundsson, Halldór S.; Kim, Young Ah; Leung, Patrick; Liu, Jianghong; Malykh, Sergey; Marković, Jasminka; Oh, Kyung Ja; Petot, Jean-Michel; Samaniego, Virginia C.; Silvares, Edwiges Ferreira de Mattos; Šimulionienė, Roma; Šobot, Valentina; Sokoli, Elvisa; Sun, Guiju; Talcott, Joel B.; Vázquez, Natalia; Zasępa, Ewa

    2017-01-01

    The purpose was to advance research and clinical methodology for assessing psychopathology by testing the international generalizability of an 8-syndrome model derived from collateral ratings of adult behavioral, emotional, social, and thought problems. Collateral informants rated 8,582 18–59-year-old residents of 18 societies on the Adult Behavior Checklist (ABCL). Confirmatory factor analyses tested the fit of the 8-syndrome model to ratings from each society. The primary model fit index (Root Mean Square Error of Approximation) showed good model fit for all societies, while secondary indices (Tucker Lewis Index, Comparative Fit Index) showed acceptable to good fit for 17 societies. Factor loadings were robust across societies and items. Of the 5,007 estimated parameters, 4 (0.08%) were outside the admissible parameter space, but 95% confidence intervals included the admissible space, indicating that the 4 deviant parameters could be due to sampling fluctuations. The findings are consistent with previous evidence for the generalizability of the 8-syndrome model in self-ratings from 29 societies, and support the 8-syndrome model for operationalizing phenotypes of adult psychopathology from multi-informant ratings in diverse societies. PMID:29399019

  20. Prevalence of Diagnosed Tourette Syndrome in Persons Aged 6-17 Years--United States, 2007

    Centers for Disease Control and Prevention, 2009

    2009-01-01

    Tourette syndrome (TS) is an inheritable, childhood-onset neurologic disorder marked by persistent multiple motor tics and at least one vocal tic. Tics are involuntary, repetitive, stereotypic movements or vocalizations that are usually sudden and rapid and often can be suppressed for short periods. The prevalence of TS is uncertain; the broad…

  1. Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis

    Mertz, Line Granild Bie; Christensen, Rikke Nøhr; Vogel, Ida

    2013-01-01

    Angelman syndrome (AS) is a neurogenetic disorder caused by loss of expression of the maternal imprinted gene UBE3A on chromosome 15q11.2-q13. Clinical features of AS include severe intellectual disability, a happy disposition, ataxia, mandibular prognatism, and epilepsy. Our objectives were...

  2. Language Development in School-Age Girls with Fragile X Syndrome

    Sterling, A.; Abbeduto, L.

    2012-01-01

    Background: Girls with fragile X syndrome (FXS) have a wide range of cognitive and language abilities. The range of language outcomes experienced by girls with FXS, however, has been relatively unexplored. The purpose of this exploratory study was to examine receptive and expressive language, with a focus on vocabulary and syntax, in a group of…

  3. Hypertension Is a Key Feature of the Metabolic Syndrome in Subjects Aging with HIV

    Martin-Iguacel, Raquel; Negredo, Eugènia; Peck, Robert

    2016-01-01

    to predispose to these metabolic complications and to the excess risk of CVD observed in the HIV population. The metabolic syndrome (MS) represents a clustering of RF for CVD that includes abdominal obesity, hypertension, dyslipidemia and insulin resistance. Hypertension is a prevalent feature of the MS in HIV...

  4. Metabolic syndrome, hypertension, and diabetes mellitus after gastric banding: the role of aging and of duration of obesity.

    Pontiroli, Antonio E; Alberto, Morabito; Paganelli, Michele; Saibene, Alessandro; Busetto, Luca

    2013-01-01

    Bariatric surgery leads to resolution of arterial hypertension and diabetes mellitus; isolated reports indicate that response to bariatric surgery is lower in aged patients. The aim of this study was to evaluate the role of age and of duration of obesity on the frequency of co-morbidities in morbid obesity, as well as on improvement of co-morbidities. A total of 837 consecutive patients with known duration of obesity, undergoing gastric banding, were considered for this study; they were divided into quartiles of age and of duration of obesity. Presence of co-morbidities (diabetes mellitus, arterial hypertension, metabolic syndrome), metabolic variables (cholesterol and HDL-C, triglycerides, blood glucose), anthropometric variables, and loss of weight during 24 months were considered. Older patients had a higher frequency of co-morbidities; duration of obesity only affected frequency of co-morbidities, but not response to surgery. At logistic regression, duration of obesity had a moderate independent effect on the frequency of diabetes. Older patients lost less weight than younger patients, but diabetes mellitus and arterial hypertension improved to the same extent in patients of different ages, and metabolic syndrome disappeared more in older patients, associated with a greater decrease of blood glucose. Frequency of removal of gastric banding and loss to follow-up were not different in different quartiles of age or in different quartiles of duration of obesity. Older patients, despite lower weight loss, have a response to bariatric surgery that is similar to that of younger patients; age and duration of obesity should not be considered as limits to indications to bariatric surgery. Copyright © 2013 American Society for Bariatric Surgery. Published by Elsevier Inc. All rights reserved.

  5. CT findings of swyer-james-macleod syndrome in adults: are there any different findings with aging

    Kang, Mi Jin; Kim, Joung Sook; Kim, Ji Young; Kim, Soung Hee; Jeong, Myeong Ja; Kim, Soo Hyun; Kim, Jae Hyung; Bae, Sang Jin; Woo, Jeong Joo

    2007-01-01

    We wanted to evaluate whether there is any different finding on CT with aging for the patients suffering with adult Swyer-James-MacLeod Syndrome (SJMS). We included 11 patients (7 males and 4 females) who underwent chest CT scan among 18 patients who were suspected of suffering with SJMS on chest radiographs. The range of age was from 28 to 85 years (mean: 58.5). We evaluated the diameter of both the main pulmonary artery (MPA) with its ratio, and the diameter of the pulmonary trunk (PT) to evaluate the possibility of pulmonary arterial hypertension, and the presence or absence of bronchiectasis. We also evaluated the relationships between these findings and aging. SJMS affected the left lung in 10 of 11 patients. The mean diameter of the main pulmonary artery of the normal lung was 2.5 cm and it was 1.6 cm in the involved site. The mean ratio of the normal MPA diameter to the involved one was 1.6 and this did not correlate with age (ρ > 0.1). The mean diameter of the pulmonary trunk was 2.8 cm and this increased with age (ρ 0.5). SJMS absolutely affected the left lung much more than right lung. All the patients demonstrated about 1.6 times the compensatory hypertrophy of MPA of the normal lung compared with that of the affected lung on chest CT, which was irrespective of age. The presence or absence of bronchiectasis has no correlation with age

  6. Towards gene-and gender-based risk estimates in Lynch syndrome; Age-specific incidences for 13 extra-colorectal cancer types

    Therkildsen, Christina; Ladelund, Steen; Smith-Hansen, Lars

    2017-01-01

    Background:In Lynch syndrome, inherited mismatch repair (MMR) defects predispose to colorectal cancer and to a wide spectrum of extra-colorectal tumours. Utilising a cohort study design, we aimed to determine the risk of extra-colorectal cancer and to identify yet unrecognised tumour types...... were identified for 13 cancer types with differences related to gender, age and disease-predisposing gene. The different cancer types showed variable peak age incidence rates (IRs) with the highest IRs for ovarian cancer at age 30-49 years, for endometrial cancer, breast cancer, renal cell cancer...... and brain tumours at age 50-69 years, and for urothelial cancer, small bowel cancer, gastric cancer, pancreatic cancer and skin tumours after age 70.Conclusions:The broad spectrum of tumour types that develop at an increased incidence defines Lynch syndrome as a multi-tumour syndrome. The variable...

  7. Cues of Paternal Uncertainty and Father to Child Physical Abuse as Reported by Mothers in Rio de Janeiro, Brazil

    Alexandre, Gisele Caldas; Nadanovsky, Paulo; Wilson, Margo; Daly, Martin; Moraes, Claudia Leite; Reichenheim, Michael

    2011-01-01

    Objective: Paternity is uncertain, so if paternal feelings evolved to promote fitness, we might expect them to vary in response to variables indicative of paternity probability. We therefore hypothesized that the risk of lapses of paternal affection, including abusive assaults on children, will be exacerbated by cues of non-paternity. Methods:…

  8. Association between hyperhomocysteinemia and metabolic syndrome with early carotid artery atherosclerosis: A cross-sectional study in middle-aged Chinese population.

    Liu, Chengguo; Sun, Xiaohui; Lin, Hanli; Zheng, Ruizhi; Ruan, Liansheng; Sun, Zhanhang; Zhu, Yimin

    2018-03-21

    Homocysteine is a modifiable, independent risk factor for cardiovascular disease. The association between hyperhomocysteinemia and metabolic syndrome with the presence of early carotid artery atherosclerosis remains unknown in middle-aged Chinese adults. Chinese adults (n = 1607) of Han ethnicity, age 35 to 65 y, and living in their communities >2 y were surveyed. Hyperhomocysteinemia was defined as homocysteine concentrations >15 µmol/L. Carotid intima-media thickness and carotid plaque were examined by ultrasonography. All participants were classified into four groups by hyperhomocysteinemia and metabolic syndrome status. Participants with both hyperhomocysteinemia and metabolic syndrome had the highest levels of waist circumference and systolic blood pressure compared with the three other groups. The highest proportion of increased carotid intima-media thickness (61.3%) was in the subgroup of both hyperhomocysteinemia and metabolic syndrome. After adjustments for the covariates, the risk of increased carotid intima-media thickness was only significantly higher in the group with metabolic syndrome but without hyperhomocysteinemia (odds ratio: 1.47; 95% confidence interval, 1.13-1.93) compared with people without hyperhomocysteinemia and metabolic syndrome. Furthermore, statistically significant variances of prevalence of plaque among the four subgroups were not discovered. Our study demonstrated that metabolic syndrome had a strong effect on carotid intima-media thickness However, the increased homocysteine levels were not significantly associated with early carotid artery atherosclerosis in middle-aged Chinese people. Copyright © 2018 Elsevier Inc. All rights reserved.

  9. Prevalence of metabolic syndrome and associated factors in women aged 35 to 65 years who were enrolled in a family health program in Brazil.

    Schmitt, Ana Carolina Basso; Cardoso, Maria Regina Alves; Lopes, Heno; Pereira, Wendry Maria Paixão; Pereira, Elaine Cristina; de Rezende, Debora Aparecida Paccola; Guarizi, Rubia Guibo; Dellu, Mayra Cecilia; Oliveira, Jéssica de Moura; Flauzino, Erika; Blümel, Juan E; Aldrighi, José Mendes

    2013-04-01

    The aims of this study were to estimate the prevalence of metabolic syndrome among women aged 35 to 65 years and to identify associated factors. This was a cross-sectional study. We randomly selected 581 women (aged 35-65 y) from among those enrolled in a family health program in the city of Pindamonhangaba, Brazil. Metabolic syndrome was identified in accordance with the definition of the National Cholesterol Education Program Adult Treatment Panel III. Health conditions and lifestyle habits were evaluated by a survey, and anthropometric measurements were obtained. The prevalence of metabolic syndrome was estimated, and Poisson regression was used to evaluate the associations between metabolic syndrome `and the factors investigated. The prevalence of metabolic syndrome was 42.2% (95% CI, 38.1-46.2). The most common metabolic syndrome component was abdominal obesity (60.6%), followed by low levels of high-density lipoprotein cholesterol (51.3%), high levels of triglycerides (41.4%), high blood pressure (31.7%), and diabetes (13.9%). The following factors were associated with metabolic syndrome: the 45- to 54-year age group (prevalence ratio, 1.54; 95% CI, 1.08-2.01), the 55- to 65-year age group (prevalence ratio, 3.51; 95% CI, 1.49-3.10), hyperuricemia (prevalence ratio, 2.95; 95% CI, 1.15-1.86), and sleep apnea risk (prevalence ratio, 2.41; 95% CI, 1.16-1.82). We found an inverse association between metabolic syndrome and having had more than 5 years of schooling (prevalence ratio, 0.65; 95% CI, 0.65-1.04). The prevalence of metabolic syndrome is high, and the associated clinical factors are hyperuricemia and risk of sleep apnea.

  10. Paternity tests in Mexico: Results obtained in 3005 cases.

    García-Aceves, M E; Romero Rentería, O; Díaz-Navarro, X X; Rangel-Villalobos, H

    2018-04-01

    National and international reports regarding the paternity testing activity scarcely include information from Mexico and other Latin American countries. Therefore, we report different results from the analysis of 3005 paternity cases analyzed during a period of five years in a Mexican paternity testing laboratory. Motherless tests were the most frequent (77.27%), followed by trio cases (20.70%); the remaining 2.04% included different cases of kinship reconstruction. The paternity exclusion rate was 29.58%, higher but into the range reported by the American Association of Blood Banks (average 24.12%). We detected 65 mutations, most of them involving one-step (93.8% and the remaining were two-step mutations (6.2%) thus, we were able to estimate the paternal mutation rate for 17 different STR loci: 0.0018 (95% CI 0.0005-0.0047). Five triallelic patterns and 12 suspected null alleles were detected during this period; however, re-amplification of these samples with a different Human Identification (HID) kit confirmed the homozygous genotypes, which suggests that most of these exclusions actually are one-step mutations. HID kits with ≥20 STRs detected more exclusions, diminishing the rate of inconclusive results with isolated exclusions (Powerplex 21 kit (20 STRs) and Powerplex Fusion kit (22 STRs) offered similar PI (p = 0.379) and average number of exclusions (PE) (p = 0.339) when a daughter was involved in motherless tests. In brief, besides to report forensic parameters from paternity tests in Mexico, results describe improvements to solve motherless paternity tests using HID kits with ≥20 STRs instead of one including 15 STRs. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  11. Identification of a sustainable two-plant diet that effectively prevents age-related metabolic syndrome and extends lifespan in aged mice.

    Li, Xiang-Yong; Liu, Ying-Hua; Wang, Bin; Chen, Chih-Yu; Zhang, Hong-Man; Kang, Jing X

    2018-01-01

    The current system of food production is linked to both the increasing prevalence of chronic disease and the deterioration of the environment, and thereby calls for novel ways of producing nutritious foods in a sustainable manner. In the "longevity village" of Bama, China, we have identified two plant foods, hemp seed and bitter vegetable (Sonchus oleraceus), that are commonly consumed by its residents and grow abundantly in unfarmed land without fertilizers or pesticides. Here, we show that a diet composed of these two foods (the "HB diet") provides a sufficient variety of nutrients and confers significant health benefits. Aged mice allowed ad libitum access to the HB diet not only had longer life spans and improved cognitive function but were also protected against age-related metabolic syndrome, fatty liver, gut dysbiosis and chronic inflammation compared to aged mice fed a control Western diet. Furthermore, longevity-related genes (including 5'adenosine monophosphate-activated protein kinase, sirtuin 1, nuclear respiratory factor 1 and forkhead box O3) were significantly up-regulated, while aging-related genes (including mammalian target of rapamycin and nuclear factor kappa B) were down-regulated. These results demonstrate that the HB diet is capable of promoting health and longevity, and present a sustainable source of healthy foods that can help control the prevalence of chronic diseases and reduce agricultural impact on the environment. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Association of Dietary Patterns with Components of Metabolic Syndrome and Inflammation among Middle-Aged and Older Adults with Metabolic Syndrome in Taiwan

    Ahmad Syauqy

    2018-01-01

    Full Text Available This study examined the correlation of dietary patterns with components of metabolic syndrome (MetS and inflammation among middle-aged and older adults with MetS in Taiwan. This cross-sectional study used data from the Mei Jau International Health Management Institution in Taiwan between 2004 and 2013. A total of 26,016 subjects aged 35 years and above were selected for analysis. MetS was defined according to the International Diabetes Federation. Three dietary patterns were identified by principal component analysis. High intake of a meat–instant food dietary pattern (rich in animal protein, saturated fat, sweets, sodium, and food additives was positively associated with components of MetS and C-reactive protein (CRP, while high intake of a vege–seafood dietary pattern (rich in dietary fiber, vitamins, minerals, and unsaturated fat or a cereal–dairy dietary pattern (rich in dietary fiber, antioxidants, phytochemicals, complex carbohydrate, prebiotics, and probiotics was inversely associated with components of MetS and CRP. Our findings suggested that intake of a vege–seafood dietary pattern or a cereal–dairy dietary pattern decreased the risk of developing MetS and inflammation among middle-aged and older adults with MetS.

  13. Effects of metabolic syndrome on arterial function in different age groups: the Advanced Approach to Arterial Stiffness study.

    Topouchian, Jirar; Labat, Carlos; Gautier, Sylvie; Bäck, Magnus; Achimastos, Apostolos; Blacher, Jacques; Cwynar, Marcin; de la Sierra, Alejandro; Pall, Denes; Fantin, Francesco; Farkas, Katalin; Garcia-Ortiz, Luis; Hakobyan, Zoya; Jankowski, Piotr; Jelakovic, Ana; Kobalava, Zhanna; Konradi, Alexandra; Kotovskaya, Yulia; Kotsani, Marina; Lazareva, Irina; Litvin, Alexander; Milyagin, Viktor; Mintale, Iveta; Persson, Oscar; Ramos, Rafael; Rogoza, Anatoly; Ryliskyte, Ligita; Scuteri, Angelo; Sirenko, Yuriy; Soulis, Georges; Tasic, Nebojsa; Udovychenko, Maryna; Urazalina, Saule; Wohlfahrt, Peter; Zelveian, Parounak; Benetos, Athanase; Asmar, Roland

    2018-04-01

    The aim of the Advanced Approach to Arterial Stiffness study was to compare arterial stiffness measured simultaneously with two different methods in different age groups of middle-aged and older adults with or without metabolic syndrome (MetS). The specific effects of the different MetS components on arterial stiffness were also studied. This prospective, multicentre, international study included 2224 patients aged 40 years and older, 1664 with and 560 without MetS. Patients were enrolled in 32 centres from 18 European countries affiliated to the International Society of Vascular Health & Aging. Arterial stiffness was evaluated using the cardio-ankle vascular index (CAVI) and the carotid-femoral pulse wave velocity (CF-PWV) in four prespecified age groups: 40-49, 50-59, 60-74, 75-90 years. In this report, we present the baseline data of this study. Both CF-PWV and CAVI increased with age, with a higher correlation coefficient for CAVI (comparison of coefficients P Age-adjusted and sex-adjusted values of CF-PWV and CAVI were weakly intercorrelated (r = 0.06, P Age-adjusted and sex-adjusted values for CF-PWV but not CAVI were higher in presence of MetS (CF-PWV: 9.57 ± 0.06 vs. 8.65 ± 0.10, P age on CAVI and CF-PWV and suggests that age may have a more pronounced effect on CAVI, whereas MetS increases CF-PWV but not CAVI. This important finding may be due to heterogeneous effects of MetS components on CAVI. The clinical significance of these original results will be assessed during the longitudinal phase of the study.

  14. Age-Specific Determinants of Pulse Wave Velocity among Metabolic Syndrome Components, Inflammatory Markers, and Oxidative Stress.

    Kim, Minkyung; Kim, Minjoo; Yoo, Hye Jin; Lee, Seung Yeon; Lee, Sang-Hyun; Lee, Jong Ho

    2018-02-01

    Pulse wave velocity (PWV) is thought to have different relationships with metabolic syndrome (MS) components, inflammatory markers, and oxidative stress, according to age. However, age-specific determinants of PWV have not yet been studied. We investigated age-dependent relationships among PWV and MS components, inflammatory markers, and oxidative stress. A total of 4,318 subjects were divided into 4 groups: 19-34 y (n=687), 35-44 y (n=1,413), 45-54 y (n=1,384), and 55-79 y (n=834). MS components, brachial-ankle PWV (baPWV), high-sensitivity C-reactive protein (hs-CRP), and oxidative stress markers were measured. There were age-related increases in MS, body mass index (BMI), waist circumference, systolic blood pressure (SBP), diastolic BP (DBP), triglycerides, glucose, hs-CRP, oxidized low-density lipoprotein (LDL), 8-epi-prostaglandin F 2α (8-epi-PGF 2α ), and baPWV. BaPWV was significantly associated with sex and elevated BP in the 19-34 y group; with age, sex, BMI, elevated BP and triglycerides in the 35-44 y group; with age, sex, elevated BP, fasting glucose, hs-CRP and oxidized LDL in the 45-54 y group; and with age, BMI, elevated BP, fasting glucose and oxidized LDL in the 55-79 y group. Our results show that age-related increases in baPWV are associated with age-related changes in MS components, inflammatory markers, and oxidative stress. However, each of these factors has an age-specific, different impact on arterial stiffness. In particular, oxidative stress may be independently associated with arterial stiffness in individuals older than 45 y.

  15. Spinal sagittal balance substantially influences locomotive syndrome and physical performance in community-living middle-aged and elderly women.

    Muramoto, Akio; Imagama, Shiro; Ito, Zenya; Hirano, Kenichi; Ishiguro, Naoki; Hasegawa, Yukiharu

    2016-03-01

    Spinal sagittal imbalance has been well known risk factor of decreased quality of life in the field of adult spinal deformity. However, the impact of spinal sagittal balance on locomotive syndrome and physical performance in community-living elderly has not yet been clarified. The present study investigated the influence of spinal sagittal alignment on locomotive syndrome (LS) and physical performance in community-living middle-aged and elderly women. A total of 125 women between the age of 40-88 years (mean 66.2 ± 9.7 years) who completed the questionnaires, spinal mouse test, physical examination and physical performance tests in Yakumo study were enrolled in this study. Participants answered the 25-Question Geriatric Locomotive Function Scale (GLFS-25), the visual analog scale (VAS) for low back pain (LBP), knee pain. LS was defined as having a score of >16 points on the GLFS-25. Using spinal mouse, spinal inclination angle (SIA), thoracic kyphosis angle (TKA), lumbar lordosis angle (LLA), sacral slope angle (SSA), thoracic spinal range of motion (TSROM), lumbar spinal range of motion (LSROM) were measured. Timed-up-and-go test (TUG), one-leg standing time with eyes open (OLS), and maximum stride, back muscle strength were also measured. The relationship between spinal sagittal parameters and GLFS-25, VAS and physical performance tests were analyzed. 26 people were diagnosed as LS and 99 were diagnosed as non-LS. LBP and knee pain were greater, physical performance tests were poorer, SIA were greater, LLA were smaller in LS group compared to non-LS group even after adjustment by age. SIA significantly correlated with GLFS-25, TUG, OLS and maximum stride even after adjustment by age. The cutoff value of SIA for locomotive syndrome was 6°. People with a SIA of 6° or greater were grouped as "Inclined" and people with a SIA of less than 6° were grouped as "Non-inclined". 21 people were "Inclined" and 104 were "Non-inclined". Odds ratio to fall in LS of

  16. Calpain 1 inhibitor BDA-410 ameliorates α-klotho-deficiency phenotypes resembling human aging-related syndromes.

    Nabeshima, Yoko; Washida, Miwa; Tamura, Masaru; Maeno, Akiteru; Ohnishi, Mutsuko; Shiroishi, Toshihiko; Imura, Akihiro; Razzaque, M Shawkat; Nabeshima, Yo-ichi

    2014-08-01

    Taking good care of elderly is a major challenge of our society, and thus identification of potential drug targets to reduce age-associated disease burden is desirable. α-klotho(-/-) (α-kl) is a short-lived mouse model that displays multiple phenotypes resembling human aging-related syndromes. Such ageing phenotype of α-kl(-/-) mice is associated with activation of a proteolytic enzyme, Calpain-1. We hypothesized that uncontrolled activation of calpain-1 might be causing age-related phenotypes in α-kl-deficient mice. We found that daily administration of BDA-410, a calpain-1 inhibitor, strikingly ameliorated multiple aging-related phenotypes. Treated mice showed recovery of reproductive ability, increased body weight, reduced organ atrophy, and suppression of ectopic calcifications, bone mineral density reduction, pulmonary emphysema and senile atrophy of skin. We also observed ectopic expression of FGF23 in calcified arteries of α-kl(-/-) mice, which might account for the clinically observed association of increased FGF23 level with increased risk of cardiovascular mortality. These findings allow us to propose that modulation of calpain-1 activity is a potential therapeutic option for delaying age-associated organ pathology, particularly caused by the dysregulation of mineral ion homeostasis.

  17. Rowell syndrome

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  18. Estimating the relative contributions of maternal genetic, paternal genetic and intrauterine factors to offspring birth weight and head circumference.

    Rice, Frances; Thapar, Anita

    2010-07-01

    Genetic factors and the prenatal environment contribute to birth weight. However, very few types of study design can disentangle their relative contribution. To examine maternal genetic and intrauterine contributions to offspring birth weight and head circumference. To compare the contribution of maternal and paternal genetic effects. Mothers and fathers were either genetically related or unrelated to their offspring who had been conceived by in vitro fertilization. 423 singleton full term offspring, of whom 262 were conceived via homologous IVF (both parents related), 66 via sperm donation (mother only related) and 95 via egg donation (father only related). Maternal weight at antenatal booking, current weight and maternal height. Paternal current weight and height were all predictors. Infant birth weight and head circumference were outcomes. Genetic relatedness was the main contributing factor between measures of parental weight and offspring birth weight as correlations were only significant when the parent was related to the child. However, there was a contribution of the intrauterine environment to the association between maternal height and both infant birth weight and infant head circumference as these were significant even when mothers were unrelated to their child. Both maternal and paternal genes made contributions to infant birth weight. Maternal height appeared to index a contribution of the intrauterine environment to infant growth and gestational age. Results suggested a possible biological interaction between the intrauterine environment and maternal inherited characteristics which suppresses the influence of paternal genes. 2010 Elsevier Ltd. All rights reserved.

  19. Paternal occupational exposure to radiofrequency electromagnetic fields and risk of adverse pregnancy outcome

    Mjoen, Geir; Saetre, Dag Ottar; Lie, Rolv T.; Tynes, Tore; Blaasaas, Karl Gerhard; Hannevik, Merete; Irgens, Lorentz M.

    2006-01-01

    Background:During the last decades, public concern that radiofrequency radiation (RFR) may be related to adverse reproductive outcomes has been emerging. Our objective was to assess associations between paternal occupational exposure to RFR and adverse pregnancy outcomes including birth defects using population-based data from Norway.Methods:Data on reproductive outcomes derived from the Medical Birth Registry of Norway were linked with data on paternal occupation derived from the general population censuses. An expert panel categorized occupations according to exposure. Using logistic regression, we analyzed 24 categories of birth defects as well as other adverse outcomes.Results:In the offspring of fathers most likely to have been exposed, increased risk was observed for preterm birth (odds ratio (OR): 1.08, 95% confidence interval (CI): 1.03, 1.15). In this group we also observed a decreased risk of cleft lip (OR: 0.63, 95% CI: 0.41, 0.97). In the medium exposed group, we observed increased risk for a category of ,other defects' (OR: 2.40, 95% CI: 1.22, 4.70), and a decreased risk for a category of ,other syndromes' (OR: 0.75, 95% CI: 0.56, 0.99) and upper gastrointestinal defects (OR: 0.61, 95% CI: 0.40, 0.93).Conclusion:The study is partly reassuring for occupationally exposed fathers

  20. Differentiating Aging among Adults with Down Syndrome and Comorbid Dementia or Psychopathology

    Esbensen, Anna J.; Johnson, Emily Boshkoff; Amaral, Joseph L.; Tan, Christine M.; Macks, Ryan

    2016-01-01

    Differences were examined between three groups of adults with Down syndrome in their behavioral presentation, social life/activities, health, and support needs. We compared those with comorbid dementia, with comorbid psychopathology, and with no comorbid conditions. Adults with comorbid dementia were more likely to be older, have lower functional abilities, have worse health and more health conditions, and need more support in self-care. Adults with comorbid psychopathology were more likely t...

  1. Who's your daddy?: paternal inheritance of metabolic disease risk.

    Isganaitis, Elvira; Suehiro, Harumi; Cardona, Connie

    2017-02-01

    Although the importance of optimizing mothers' health prior to conception and during pregnancy is now well accepted, recent data also implicate health and nutritional status of fathers as contributors to chronic disease risk in their progeny. This brief review will highlight recent epidemiological and experimental studies linking paternal overnutrition, undernutrition, and other forms of stress, to metabolic disease in the offspring. The past 2 years have brought tremendous insights into the mechanisms by which paternal exposures can contribute to disease susceptibility in the next generation. Recent data, both from humans and experimental models, demonstrate that paternal obesity and undernutrition result in epigenetic reprogramming of male germ cells, notably altered DNA methylation, histone retention, and expression of small noncoding RNAs and transfer RNA fragments. Novel mechanisms have also been identified, such as epididymal transport vesicles, seminal fluid hormones and metabolites, and a unique seminal fluid microbiome. Paternal nutritional and other perturbations are linked to risk of metabolic disease and obesity in offspring. Germ cell-dependent mechanisms have recently been linked to these intergenerational effects. Nongenetic, paternal inheritance of chronic disease has important implications for public health, and may provide novel opportunities for multigenerational disease prevention.

  2. Elevated paternal glucocorticoid exposure modifies memory retention in female offspring.

    Yeshurun, Shlomo; Rogers, Jake; Short, Annabel K; Renoir, Thibault; Pang, Terence Y; Hannan, Anthony J

    2017-09-01

    Recent studies have demonstrated that behavioral traits are subject to transgenerational modification by paternal environmental factors. We previously reported on the transgenerational influences of increased paternal stress hormone levels on offspring anxiety and depression-related behaviors. Here, we investigated whether offspring sociability and cognition are also influenced by paternal stress. Adult C57BL/6J male mice were treated with corticosterone (CORT; 25mg/L) for four weeks prior to paired-matings to generate F1 offspring. Paternal CORT treatment was associated with decreased body weights of female offspring and a marked reduction of the male offspring. There were no differences in social behavior of adult F1 offspring in the three-chamber social interaction test. Despite male offspring of CORT-treated fathers displaying hyperactivity in the Y-maze, there was no observable difference in short-term spatial working memory. Spatial learning and memory testing in the Morris water maze revealed that female, but not male, F1 offspring of CORT-treated fathers had impaired memory retention. We used our recently developed methodology to analyze the spatial search strategy of the mice during the learning trials and determined that the impairment could not be attributed to underlying differences in search strategy. These results provide evidence for the impact of paternal corticosterone administration on offspring cognition and complement the cumulative knowledge of transgenerational epigenetic inheritance of acquired traits in rodents and humans. Copyright © 2017 Elsevier Ltd. All rights reserved.

  3. [Effect of paternity leave on maternal postpartum depression].

    Séjourné, N; Beaumé, M; Vaslot, V; Chabrol, H

    2012-06-01

    The aim of this study was to explore the role of the paternity leave in the appearance of the maternal postpartum depression. Fifty-one couples took part in the whole study. Between the second and the fifth day after the childbirth, the mother completed the Edinburgh Postnatal Depression Scale (EPDS), which measures the symptoms of depression and the Multidimensional Scale of Perceived Social Support (MSPSS) which measures the social support the mother has become. The father completed the EPDS. Two months and then the second time four months after the childbirth, the mother received the EPDS, the MSPSS, and questionnaires measuring the temperament of the baby, the maternal skills, the feeling of being a mother and the quality of life postpartum. In order to evaluate the paternal involvement, the father completed the EPDS and questions about paternal skills and involvement. The paternity leave seemed not to have any consequences on the results at the EPDS or other questionnaires. However, lack of paternal involvement was a significant predictor of the intensity of the depressive symptoms of the mothers. It is not the presence of the father wich seems important to take into account for detection and the traitement of postpatum depression but his participation in the care of the baby. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  4. Multiple paternity and hybridization in two smooth-hound sharks.

    Marino, Ilaria A M; Riginella, Emilio; Gristina, Michele; Rasotto, Maria B; Zane, Lorenzo; Mazzoldi, Carlotta

    2015-08-10

    Multiple paternity appears to be a common trait of elasmobranch mating systems, with its occurrence likely driven by convenience, due to females seeking to minimize the stress of male harassment. Here we use molecular markers to analyse the frequency of multiple paternity in two related viviparous sharks, Mustelus mustelus and Mustelus punctulatus. We first applied molecular methods to assign pregnant females, embryos and additional reference adults (N = 792) to one of the two species. Paternity analysis was performed using a total of 9 polymorphic microsatellites on 19 females and 204 embryos of M. mustelus, and on 13 females and 303 embryos of M. punctulatus. Multiple paternity occurs in both species, with 47% of M. mustelus and 54% of M. punctulatus litters sired by at least two fathers. Female fecundity is not influenced by multiple mating and in 56% of polyandrous litters paternity is skewed, with one male siring most of the pups. Genetic analyses also revealed hybridization between the two species, with a M. punctulatus female bearing pups sired by a M. mustelus male. The frequency of polyandrous litters in these species is consistent with aspects of their reproductive biology, such as synchronous ovulation and possible occurrence of breeding aggregations.

  5. Nudging towards nutrition? Soft paternalism and obesity-related reform.

    Hector, Colin

    2012-01-01

    Obesity is one of the most contentious issues facing the United States today. Some researchers warn of an obesity "epidemic" that poses a grave threat to our nation's health, while others attack these claims as alarmist and misguided. This divide reinforces the political schism between advocates of government intervention and anti-regulatory groups. As a result, obesity science finds itself entangled in partisan battles that leave little room for compromise. This paper explores the potential for the political philosophy of soft paternalism to provide a regulatory framework that may appeal to both sides of the obesity reform debate. Soft paternalism draws upon social science research in order to develop policies that encourage better decision-making, while preserving individual choice. Applying this framework to the issue of obesity, I look at two areas of potential reform: 1) information-based policies such as nutritional label design, and 2) policies that affect default choices, such as portion size norms. I find that while soft paternalism is an appealing framework that offers many promising reforms, it is not a panacea. Instead, I argue that these proposals should be considered on their own merit, not as a complete solution precluding other measures. In addition, in light of potential criticism concerning the stigmatizing effect of some obesity-related measures, I suggest that reforms based on soft paternalism can and should be tailored to promote more mindful eating habits. With these concerns in mind, I conclude that soft paternalism is a promising approach that warrants serious consideration by policymakers.

  6. Impact of maternal and paternal smoking on birth outcomes.

    Inoue, Sachiko; Naruse, Hiroo; Yorifuji, Takashi; Kato, Tsuguhiko; Murakoshi, Takeshi; Doi, Hiroyuki; Subramanian, S V

    2017-09-01

    The adverse effects of maternal and paternal smoking on child health have been studied. However, few studies demonstrate the interaction effects of maternal/paternal smoking, and birth outcomes other than birth weight have not been evaluated. The present study examined individual effects of maternal/paternal smoking and their interactions on birth outcomes. A follow-up hospital-based study from pregnancy to delivery was conducted from 1997 to 2010 with parents and newborn infants who delivered at a large hospital in Hamamatsu, Japan. The relationships between smoking and growth were evaluated with logistic regression. The individual effects of maternal smoking are related to low birth weight (LBW), short birth length and small head circumference. The individual effects of paternal smoking are related to short birth length and small head circumference. In the adjusted model, both parents' smoking showed clear associations with LBW (odds ratio [OR] = 1.64, 95% confidence interval [CI] 1.18-2.27) and short birth length (-1 standard deviation [SD] OR = 1.38, 95% CI 1.07-1.79; -2 SD OR = 2.75, 95% CI 1.84-4.10). Maternal smoking was significantly associated with birth weight and length, but paternal smoking was not. However, if both parents smoked, the risk of shorter birth length increased. © The Author 2016. Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  7. Paternal care and litter size coevolution in mammals.

    Stockley, Paula; Hobson, Liane

    2016-04-27

    Biparental care of offspring occurs in diverse mammalian genera and is particularly common among species with socially monogamous mating systems. Despite numerous well-documented examples, however, the evolutionary causes and consequences of paternal care in mammals are not well understood. Here, we investigate the evolution of paternal care in relation to offspring production. Using comparative analyses to test for evidence of evolutionary associations between male care and life-history traits, we explore if biparental care is likely to have evolved because of the importance of male care to offspring survival, or if evolutionary increases in offspring production are likely to result from the evolution of biparental care. Overall, we find no evidence that paternal care has evolved in response to benefits of supporting females to rear particularly costly large offspring or litters. Rather, our findings suggest that increases in offspring production are more likely to follow the evolution of paternal care, specifically where males contribute depreciable investment such as provisioning young. Through coevolution with litter size, we conclude that paternal care in mammals is likely to play an important role in stabilizing monogamous mating systems and could ultimately promote the evolution of complex social behaviours. © 2016 The Authors.

  8. Serum 25(OHD is inversely associated with metabolic syndrome risk profile among urban middle-aged Chinese population

    Yin Xiao

    2012-09-01

    Full Text Available Abstract Background Vitamin D deficiency is associated with a variety of chronic metabolic diseases. Limited evidence regarding vitamin D deficiency exists within the Chinese population. The present study aims to examine the association between serum vitamin D concentrations and cardiometabolic risk factors in the young and middle-aged, urban Chinese population Methods The cross-sectional relationships between serum 25-hydroxyvitamin D [25(OHD] concentrations and indices of adiposity and cardiometabolic risk factors (e.g., body mass index, waist circumference, fasting plasma glucose, etc. were evaluated in 601 non-diabetic adults. Result Vitamin D deficiency or insufficiency was present in 66% of the tested population, and serum 25(OHD levels were lower in patients who were overweight/obese or suffered metabolic syndrome when compared to individuals of healthy weight without metabolic syndrome (24.08 ± 8.08 vs 31.70 ± 11.77 ng/ml, 21.52 ± 6.9 vs 31.74 ± 10.21 ng/ml respectively. 25(OHD was inversely associated with waist circumference, fasting glucose, fasting insulin, triglycerides and LDL-cholesterol, and it was positively associated with HDL-cholesterol in a multivariable-adjusted regression model. Conclusion Vitamin D deficiency is common in the young and middle-aged, urban Chinese population, with high prevalence in overweight/obese individuals and patients with metabolic syndrome. Low vitamin D concentration was associated with indices of adiposity and cardiometabolic risk factors. Further studies are warranted to elucidate the cause-effect relation between vitamin D status, obesity and related metabolic disorders. Trial registration Current Controlled Trials (ISRCTN21527585

  9. Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect

    Schulze, A; Hansen, Claus; Baekgaard, P

    1997-01-01

    Prader-Willi syndrome (PWS) is a neuroendocrine disorder caused by a non-functioning paternally derived gene(s) within the chromosome region 15q11-q13. Most cases result from microscopically visible deletions of paternal origin, or maternal uniparental disomy of chromosome 15. In both instances n...

  10. Mortality risk in a nationwide cohort of individuals with tic disorders and with tourette syndrome

    Meier, Sandra M; Dalsgaard, Søren; Mortensen, Preben B

    2017-01-01

    BACKGROUND: Few studies have investigated mortality risk in individuals with tic disorders. METHODS: We thus measured the risk of premature death in individuals with tic disorders and with Tourette syndrome in a prospective cohort study with 80 million person-years of follow-up. We estimated...... mortality rate ratios and adjusted for calendar year, age, sex, urbanicity, maternal and paternal age, and psychiatric disorders to compare individuals with and without tic disorders. RESULTS: The risk of premature death was higher among individuals with tic disorders (mortality rate ratio, 2.02; 95% CI, 1.......49-2.66) and with Tourette syndrome (mortality rate ratio, 1.63; 95% CI, 1.11-2.28) compared with controls. After the exclusion of individuals with comorbid attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and substance abuse, tic disorder remained associated with increased mortality risk (mortality...

  11. A high-fat diet and NAD+ activate sirt1 to rescue premature aging in cockayne syndrome

    Scheibye-Knudsen, Morten; Mitchell, Sarah J.; Fang, Evandro F.

    2014-01-01

    -fat, caloric-restricted, or resveratrol-supplemented diet. High-fat feeding rescued the metabolic, transcriptomic, and behavioral phenotypes of Csbm/m mice. Furthermore, premature aging in CS mice, nematodes, and human cells results from aberrant PARP activation due to deficient DNA repair leading to decreased......Cockayne syndrome (CS) is an accelerated aging disorder characterized by progressive neurodegeneration caused by mutations in genes encoding the DNA repair proteins CS group A or B (CSA or CSB). Since dietary interventions can alter neurodegenerative processes, Csbm/m mice were given a high...... SIRT1 activity and mitochondrial dysfunction. Notably, β-hydroxybutyrate levels are increased by the high-fat diet, and β-hydroxybutyrate, PARP inhibition, or NAD+ supplementation can activate SIRT1 and rescue CS-associated phenotypes. Mechanistically, CSB can displace activated PARP1 from damaged DNA...

  12. Parental Age and Assisted Reproductive Technology in Autism Spectrum Disorders, Attention Deficit Hyperactivity Disorder, and Tourette Syndrome in a Japanese Population

    Shimada, Takafumi; Kitamoto, Atsushi; Todokoro, Ayako; Ishii-Takahashi, Ayaka; Kuwabara, Hitoshi; Kim, Soo-Yung; Watanabe, Kei-ichiro; Minowa, Iwao; Someya, Toshikazu; Ohtsu, Hiroshi; Osuga, Yutaka; Kano, Yukiko; Kasai, Kiyoto; Kato, Nobumasa; Sasaki, Tsukasa

    2012-01-01

    We investigated whether advanced parental age and assisted reproductive technology (ART) are risk factors in autism spectrum disorders (ASDs), attention deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS). Clinical charts of Japanese outpatients with ASD (n = 552), ADHD (n = 87), and TS (n = 123) were reviewed. Parental age of…

  13. The Effects of Depression and Stressful Life Events on the Development and Maintenance of Syndromal Social Anxiety: Sex and Age Differences

    Aune, Tore; Stiles, Tore C.

    2009-01-01

    This study assessed age and sex differences in the prevalence and incidence rates of syndromal social anxiety (SSA), as well as the predictive role of depressive symptoms and stressful life events on the development and persistence of SSA. A sample of 1,439 young people, between 11 and 14 years of age, was assessed twice within a 12-month…

  14. Aging women with polycystic ovary syndrome who achieve regular menstrual cycles have a smaller follicle cohort than those who continue to have irregular cycles

    Elting, Mariet W.; Kwee, Janet; Korsen, Ted J.M.; Rekers-Mombarg, L.T.M.; Schoemaker, Joop

    2003-01-01

    To examine whether follicle loss due to ovarian aging is responsible for the occurrence of regular menstrual cycles in aging women with polycystic ovary syndrome (PCOS), the size of the FSH-sensitive follicle cohort was estimated by the exogenous follicle-stimulating hormone ovarian reserve test

  15. Impact of age and gender on the prevalence and prognostic importance of the metabolic syndrome and its components in Europeans. The MORGAM Prospective Cohort Project

    Vishram, Julie K K; Borglykke, Anders; Andreasen, Anne H

    2014-01-01

    OBJECTIVE: To investigate the influence of age and gender on the prevalence and cardiovascular disease (CVD) risk in Europeans presenting with the Metabolic Syndrome (MetS). METHODS: Using 36 cohorts from the MORGAM-Project with baseline between 1982-1997, 69094 men and women aged 19-78 years, wi...

  16. The Fears, Phobias and Anxieties of Children with Autism Spectrum Disorders and Down Syndrome: Comparisons with Developmentally and Chronologically Age Matched Children

    Evans, David W.; Canavera, Kristin; Kleinpeter, F. Lee; Maccubbin, Elise; Taga, Ken

    2005-01-01

    This study compared the fears and behavior problems of 25 children with an autism spectrum disorder (ASD), 43 children with Down syndrome (DS), 45 mental age (MA) matched children, and 37 chronologically age (CA) matched children. Children's fears, phobias, anxieties and behavioral problems were assessed using parent reports. Significant…

  17. Attentional function and basal forebrain cholinergic neuron morphology during aging in the Ts65Dn mouse model of Down syndrome.

    Powers, Brian E; Velazquez, Ramon; Kelley, Christy M; Ash, Jessica A; Strawderman, Myla S; Alldred, Melissa J; Ginsberg, Stephen D; Mufson, Elliott J; Strupp, Barbara J

    2016-12-01

    Individuals with Down syndrome (DS) exhibit intellectual disability and develop Alzheimer's disease-like neuropathology during the third decade of life. The Ts65Dn mouse model of DS exhibits key features of both disorders, including impairments in learning, attention and memory, as well as atrophy of basal forebrain cholinergic neurons (BFCNs). The present study evaluated attentional function in relation to BFCN morphology in young (3 months) and middle-aged (12 months) Ts65Dn mice and disomic (2N) controls. Ts65Dn mice exhibited attentional dysfunction at both ages, with greater impairment in older trisomics. Density of BFCNs was significantly lower for Ts65Dn mice independent of age, which may contribute to attentional dysfunction since BFCN density was positively associated with performance on an attention task. BFCN volume decreased with age in 2N but not Ts65Dn mice. Paradoxically, BFCN volume was greater in older trisomic mice, suggestive of a compensatory response. In sum, attentional dysfunction occurred in both young and middle-aged Ts65Dn mice, which may in part reflect reduced density and/or phenotypic alterations in BFCNs.

  18. CT findings of swyer-james-macleod syndrome in adults: are there any different findings with aging

    Kang, Mi Jin; Kim, Joung Sook; Kim, Ji Young; Kim, Soung Hee; Jeong, Myeong Ja; Kim, Soo Hyun; Kim, Jae Hyung [Sanggye Paik Hospital, Inje University College of Medicine, Seoul (Korea, Republic of); Bae, Sang Jin [National Police Hospital, Seoul (Korea, Republic of); Woo, Jeong Joo [Eulji Hospital, Eulji University College of Medicine, Daejeon (Korea, Republic of)

    2007-02-15

    We wanted to evaluate whether there is any different finding on CT with aging for the patients suffering with adult Swyer-James-MacLeod Syndrome (SJMS). We included 11 patients (7 males and 4 females) who underwent chest CT scan among 18 patients who were suspected of suffering with SJMS on chest radiographs. The range of age was from 28 to 85 years (mean: 58.5). We evaluated the diameter of both the main pulmonary artery (MPA) with its ratio, and the diameter of the pulmonary trunk (PT) to evaluate the possibility of pulmonary arterial hypertension, and the presence or absence of bronchiectasis. We also evaluated the relationships between these findings and aging. SJMS affected the left lung in 10 of 11 patients. The mean diameter of the main pulmonary artery of the normal lung was 2.5 cm and it was 1.6 cm in the involved site. The mean ratio of the normal MPA diameter to the involved one was 1.6 and this did not correlate with age ({rho} > 0.1). The mean diameter of the pulmonary trunk was 2.8 cm and this increased with age ({rho} < 0.05). There was bronchiectasis in 6 of 11 patients, and the ratio of bronchiectasis did not correlate with age ({rho} > 0.5). SJMS absolutely affected the left lung much more than right lung. All the patients demonstrated about 1.6 times the compensatory hypertrophy of MPA of the normal lung compared with that of the affected lung on chest CT, which was irrespective of age. The presence or absence of bronchiectasis has no correlation with age.

  19. The certainty that engendered doubt: paternity and DNA

    Claudia Fonseca

    Full Text Available There has been a surge in the use of DNA paternity tests in Brazil in both private and government laboratories. This raises interesting questions about the influence of the medical and legal spheres on gender and kinship relations in contemporary society. To analyze this phenomenon, we conducted research and observations in various government agencies in Porto Alegre (the Public Defender's office, Mediation Hearings, Family Court and the Court's Medical Service of people involved in legal disputes over paternal identification. We also studied how recent changes in the laws concerning paternal recognition are applied by the different personalities on the scene. Based on this data, we present the hypothesis that far from inspiring greater tranquility, the simple existence of the test instigates doubt. This has profound repercussions on our form of "knowing" who is the father. The situation described in this paper raises new challenges for an anthropology of knowledge, which focuses on an analysis of Western beliefs - including scientific ones.

  20. The effect of pregnancy on paternal skin allograft survival

    2009-01-01

    Elucidation of maternal-fetal tolerance mechanisms clarifies the role of regulatory T cells (Treg) in transplant tolerance. This study aim to investigate the effect of pregnancy on paternal skin allograft survival. Flow cytometry techniques, mixed lymphocytes reaction (MLR), PCR, real-time PCR and skin transplantation were key methods. Treg increased significantly from 4.2% before pregnancy to peak at 6.8% day 8 after pregnancy. Both heme oxygenase-1 (HO-1) and indoleamine 2,3-dioxygenase (IDO) mRNA express high in placenta while low in spleen (P<0.05). Although Treg increased during pregnancy, and splenocytes from the pregnant mice showed lower MLR response toward the paternal stimulator, single time pregnancy showed no significant protective effect on paternal skin allograft survival in the tested condition.

  1. Metabolic Syndrome and Its Characteristics among Reproductive-Aged Women with Polycystic Ovary Syndrome: A Cross-sectional Study in Northwest Iran

    Fatemeh Pourteymour Fard Tabrizi

    2013-01-01

    Full Text Available Background: Metabolic syndrome (MetS is a clustering of factors known to increase the risk forcardiovascular disease (CVD and diabetes mellitus. Polycystic ovary syndrome (PCOS, the mostcommon endocrine disorder among reproductive-aged women, is also closely linked to MetS. Limitedinformation is available pertaining to the prevalence of MetS in Iranian PCOS women; therefore thisstudy assesses the frequency of MetS and its components among PCOS women from Tabriz, Iran.Materials and Methods: In this cross-sectional study, we evaluated a total of 200 women withPCOS who referred to the only specialty and subspecialty gynecological center in Northwestern Iran.PCOS was diagnosed according to Rotterdam criteria. This study defined clinical and biochemicalparameters for MetS by the National Cholesterol Education Program Adult Treatment Panel III(NCEP ATP III criteria. Statistical analyses were performed with descriptive-analytical methodsusing SPSS software version 16.Results: MetS was identified in 39.5% of PCOS women. The frequencies of individual componentsof MetS among studied subjects were: high-density lipoprotein cholesterol level (HDL-C<50 mg/dL (99.5%, waist circumference(WC ≥88cm (65%, triglycerides (TG ≥150 mg/dL(98%, andblood pressure≥130/85 mmHg(34%.There were no fasting glucose concentrations≥110 mg/dL. Thefrequency of MetS increased with body mass index (BMIas follows: normal (5.4%, overweight(41.5% and obese (85.7% women (p<0.0001.Conclusion: The PCOS women in this study had a high frequency of MetS and its individualcomponents, particularly decreased HDL-C and increased triglyceride levels. These data can usefulfor lifestyle modification programs.

  2. Resolving Questioned Paternity Issues Using a Philippine Genetic Database

    Maria Corazon De Ungria

    2002-06-01

    Full Text Available The utility of the Philippines genetic database consisting of seven Short Tandem Repeat (STR markers for testing of ten questioned paternity cases was investigated. The markers used were HUMvWA, HUMTH01, HUMCSF1PO, HUMFOLP23, D8S306, HUMFES/FPS, and HUMF13A01. These markers had a combined Power of Paternity Exclusion of 99.17%. Due to the gravity of some cases handled in the laboratory, routine procedures must be assessed to determine the capacity of the analysis to exclude a non-father of predict paternity. Clients showed a preference for only testing father and child to lower costs and reduce conflicts, particularly when the mother objects to the conduct of DNA tests, or when she is deceased or cannot be located. The Probability of Paternity was calculated with and without the mother’s profile in each of the cases. In all instances, results were more informative when the mother’s DNA profile was included. Moreover, variations in the allelic distribution of five STR markers among eight Caucasian, one African-American, and two Amerindian (Argentina populations resulted in significant differences in Probability of Paternity estimates compared to those calculated using the Philippine Database.Based on the results of the present study, it is recommended that tests on alleged father-child samples be performed to screen for at least two mismatches. In the absence of theses mismatches, further analysis that includes the mother’s DNA profile is recommended. Moreover, it is recommended that a Philippines genetic database be used for DNA-based paternity testing in the Philippines.

  3. Metabolic syndrome but not obesity measures are risk factors for accelerated age-related glomerular filtration rate decline in the general population.

    Stefansson, Vidar T N; Schei, Jørgen; Solbu, Marit D; Jenssen, Trond G; Melsom, Toralf; Eriksen, Bjørn O

    2018-05-01

    Rapid age-related glomerular filtration rate (GFR) decline increases the risk of end-stage renal disease, and a low GFR increases the risk of mortality and cardiovascular disease. High body mass index and the metabolic syndrome are well-known risk factors for patients with advanced chronic kidney disease, but their role in accelerating age-related GFR decline independent of cardiovascular disease, hypertension and diabetes is not adequately understood. We studied body mass index, waist circumference, waist-hip ratio and metabolic syndrome as risk factors for accelerated GFR decline in 1261 middle-aged people representative of the general population without diabetes, cardiovascular disease or kidney disease. GFR was measured as iohexol clearance at baseline and repeated after a median of 5.6 years. Metabolic syndrome was defined as fulfilling three out of five criteria, based on waist circumference, blood pressure, glucose, high-density lipoprotein cholesterol and triglycerides. The mean GFR decline rate was 0.95 ml/min/year. Neither the body mass index, waist circumference nor waist-hip ratio predicted statistically significant changes in age-related GFR decline, but individuals with baseline metabolic syndrome had a significant mean of 0.30 ml/min/year faster decline than individuals without metabolic syndrome in a multivariable adjusted linear regression model. This association was mainly driven by the triglyceride criterion of metabolic syndrome, which was associated with a significant 0.36 ml/min/year faster decline when analyzed separately. Results differed significantly when GFR was estimated using creatinine and/or cystatin C. Thus, metabolic syndrome, but not the body mass index, waist circumference or waist-hip ratio, is an independent risk factor for accelerated age-related GFR decline in the general population. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

  4. The age of fathers in the USA is rising: an analysis of 168 867 480 births from 1972 to 2015.

    Khandwala, Yash S; Zhang, Chiyuan A; Lu, Ying; Eisenberg, Michael L

    2017-10-01

    How has the mean paternal age in the USA changed over the past 4 decades? The age at which men are fathering children in the USA has been increasing over time, although it varies by race, geographic region and paternal education level. While the rise in mean maternal age and its implications for fertility, birth outcomes and public health have been well documented, little is known about paternal characteristics of births within the USA. A retrospective data analysis of paternal age and reporting patterns for 168 867 480 live births within the USA since 1972 was conducted. All live births within the USA collected through the National Vital Statistics System (NVSS) of the Centers for Disease Control and Prevention (CDC) were evaluated. Inverse probability weighting (IPW) was used to reduce bias due to missing paternal records. Mean paternal age has increased over the past 44 years from 27.4 to 30.9 years. College education and Northeastern birth states were associated with higher paternal age. Racial/ethnic differences were also identified, whereby Asian fathers were the oldest and Black fathers were the youngest. The parental age difference (paternal age minus maternal age) has decreased over the past 44 years. Births to Black and Native American mothers were most often lacking paternal data, implying low paternal reporting. Paternal reporting was higher for older and more educated women. Although we utilized IPW to reduce the impact of paternal reporting bias, our estimates may still be influenced by the missing data in the NVSS. Paternal age is rising within the USA among all regions, races and education levels. Given the implications for offspring health and demographic patterns, further research on this trend is warranted. No funding was received for this study and there are no competing interests. N/A. © The Author 2017. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For

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

    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

  6. Trajectories of growth in body mass index across childhood: Associations with maternal and paternal employment.

    Morrissey, Taryn W

    2013-10-01

    Research links mothers' employment to higher body mass index (BMI), a measure of weight-for-height, among their children. However, how maternal employment patterns relate to their children's BMI trajectories, and the role that fathers' employment plays in when and at what rate children grow, remain unclear. With data on children from 2 to 15 years of age living in two-parent families from the U.S. NICHD's Study of Early Child Care and Youth Development (N = 1107), individual growth models are used to describe American children's BMI trajectories as predicted by maternal and paternal employment characteristics. Results indicate that, by age 15, children's BMIs are, on average, nearly one-half of a standard deviation above recommended levels, and the majority of growth occurs during the preschool period. The duration of maternal employment, and combined measures of maternal and paternal employment duration, are both associated with higher child BMI across childhood. Associations are small but cumulative. Notably, the association between the duration of time children lived in dual-earner families and child BMI is larger than that between maternal employment duration alone and children's BMI, which is strongest during the preschool period. Combined measures of maternal and paternal employment intensity, defined as the number of periods both parents worked 35 or more hours per week, are associated with higher child BMI during the preschool period only. Findings highlight the importance of taking into account both parents' employment characteristics in investigating children's physical development. Copyright © 2012 Elsevier Ltd. All rights reserved.

  7. Paternal perception of infant sleep risks and safety.

    Hirsch, Heather M; Mullins, Samantha H; Miller, Beverly K; Aitken, Mary E

    2018-04-10

    Sudden Unexpected Infant Death (SUID) results in 3400 sleep-related deaths yearly in the United States, yet caregivers' compliance with safe sleep recommendations remains less than optimal. Paternal caregiver's attitudes toward infant safe sleep messages are largely unaddressed, despite established differences between female and male caregiver perceptions. This study aimed to explore the determinants of safe sleep practices among male caregivers. Focus groups were conducted in Arkansas with male caregivers of infants ages 2-12 months to discuss infant sleep routines, parental roles, sources for safe sleep information, and messaging suggestions for safe sleep promotion. The Health Belief Model of behavior change framed a moderator guide. Transcript-based analysis was used, and data were managed using HyperRESEARCH (version 2.8.3). The transcribed data were coded to identify significant themes. Ten focus groups were conducted with 46 participants. Inconsistent adherence to safe sleep practices was reported. Participants were more likely to describe safe location (57% of participants) and supine position behaviors (42%) than an uncluttered bed environment (26%). Caregivers acknowledged the importance of recommended safe sleep behavior, but admitted to unsafe practices, such as co-sleeping and unsafe daytime sleep. Lack of perceived risk, comfort, and/or resources, and disagreement among family members about safety practices were identified as barriers. Participants voiced concerns that current advertising portrays males as incompetent caregivers. Suggestions included portraying positive images of fathers and male caregivers acting to promote safety and the incorporation of statistics about the hazards of unsafe sleep to better engage fathers. Potential distribution venues included sporting events, home improvement and/or automotive stores, and social media from trusted sites (e.g. hospitals or medical professionals). Male caregivers demonstrate some knowledge base

  8. Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study.

    Kevin H Eng

    2018-02-01

    Full Text Available Given prior evidence that an affected woman conveys a higher risk of ovarian cancer to her sister than to her mother, we hypothesized that there exists an X-linked variant evidenced by transmission to a woman from her paternal grandmother via her father. We ascertained 3,499 grandmother/granddaughter pairs from the Familial Ovarian Cancer Registry at the Roswell Park Cancer Institute observing 892 informative pairs with 157 affected granddaughters. We performed germline X-chromosome exome sequencing on 186 women with ovarian cancer from the registry. The rate of cancers was 28.4% in paternal grandmother/granddaughter pairs and 13.9% in maternal pairs consistent with an X-linked dominant model (Chi-square test X2 = 0.02, p = 0.89 and inconsistent with an autosomal dominant model (X2 = 20.4, p<0.001. Paternal grandmother cases had an earlier age-of-onset versus maternal cases (hazard ratio HR = 1.59, 95%CI: 1.12-2.25 independent of BRCA1/2 status. Reinforcing the X-linked hypothesis, we observed an association between prostate cancer in men and ovarian cancer in his mother and daughters (odds ratio, OR = 2.34, p = 0.034. Unaffected mothers with affected daughters produced significantly more daughters than sons (ratio = 1.96, p<0.005. We performed exome sequencing in reported BRCA negative cases from the registry. Considering age-of-onset, one missense variant (rs176026 in MAGEC3 reached chromosome-wide significance (Hazard ratio HR = 2.85, 95%CI: 1.75-4.65 advancing the age of onset by 6.7 years. In addition to the well-known contribution of BRCA, we demonstrate that a genetic locus on the X-chromosome contributes to ovarian cancer risk. An X-linked pattern of inheritance has implications for genetic risk stratification. Women with an affected paternal grandmother and sisters of affected women are at increased risk for ovarian cancer. Further work is required to validate this variant and to characterize carrier families.

  9. The Probability of Neonatal Respiratory Distress Syndrome as a Function of Gestational Age and Lecithin/Sphingomyelin Ratio

    St. Clair, Caryn; Norwitz, Errol R.; Woensdregt, Karlijn; Cackovic, Michael; Shaw, Julia A.; Malkus, Herbert; Ehrenkranz, Richard A.; Illuzzi, Jessica L.

    2011-01-01

    We sought to define the risk of neonatal respiratory distress syndrome (RDS) as a function of both lecithin/sphingomyelin (L/S) ratio and gestational age. Amniotic fluid L/S ratio data were collected from consecutive women undergoing amniocentesis for fetal lung maturity at Yale-New Haven Hospital from January 1998 to December 2004. Women were included in the study if they delivered a live-born, singleton, nonanomalous infant within 72 hours of amniocentesis. The probability of RDS was modeled using multivariate logistic regression with L/S ratio and gestational age as predictors. A total of 210 mother-neonate pairs (8 RDS, 202 non-RDS) met criteria for analysis. Both gestational age and L/S ratio were independent predictors of RDS. A probability of RDS of 3% or less was noted at an L/S ratio cutoff of ≥3.4 at 34 weeks, ≥2.6 at 36 weeks, ≥1.6 at 38 weeks, and ≥1.2 at term. Under 34 weeks of gestation, the prevalence of RDS was so high that a probability of 3% or less was not observed by this model. These data describe a means of stratifying the probability of neonatal RDS using both gestational age and the L/S ratio and may aid in clinical decision making concerning the timing of delivery. PMID:18773379

  10. Association between metabolic syndrome and mild cognitive impairment and its age difference in a Chinese community elderly population.

    Liu, Miao; He, Yao; Jiang, Bin; Wu, Lei; Wang, Jianghua; Yang, Shanshan; Wang, Yiyan

    2015-06-01

    To examine associations between metabolic syndrome (MetS) and its individual components with risk of mild cognitive impairment (MCI) among community elderly and explore the age difference. Cross-sectional study. About 2,102 aged 60 and older community residents in Beijing metropolitan area, China. Cognitive function was assessed by Mini-Mental State Examination (MMSE). MetS was defined by the 2009 harmonizing definition. Overnight-fasting blood samples were obtained to measure biochemistry indicators. The prevalence of MetS and MCI was 59·1% and 15·9%, respectively. After adjusting age, gender, other demographic factors, lifestyle variables and medication use, participants with MetS or its individual components are at significantly elevated risk for MCI. In terms of MMSE score, as the continuous dependent variable, the β (95% CI) of MetS was -0·68(-0·99, -0·37). For prevalence of MCI, as the dichotomy dependent variable, the odds ratio (OR) of Mets is 1·52 compared to control group (or baseline) with 95% confidence interval (CI) of 1·16 to 1·95. The multivariate association only showed significant results among participants aged less than 80 years old. MetS is associated with worse cognitive function among younger elderly. Managing MetS, as well as its components, may contribute to control cognitive decline and reduce related disease and social burden. © 2015 John Wiley & Sons Ltd.

  11. The relationship between enlargement of the temporal horns of the lateral ventricles and dementia in aging patients with Down syndrome

    LeMay, M.; Alvarez, N.

    1990-01-01

    Head CT studies of patients with Alzheimer's disease (AD) show global atrophic changes. Tissue loss is especially prominent in the temporal lobes, with widening of the temporal horns of the lateral ventricles and, usually, widening of the temporal sulci. Some recent studies have found a familial form of AD to be mapped to chromosome 21. Down syndrome (DS) results from the inheritance of three chromosomes 21, and it has been shown that after the age of 35 the brains of patients with DS commonly show neuropathological changes similar to those in patients with AD. CT studies of 25 patients with DS (ages 29-64 years) were examined for tissue loss in the temporal regions, and this was compared to the findings commonly seen in patients with AD. The widths of CSF spaces varied considerably in patients with DS, but after the age of 50 most of them showed significant widening of the temporal horns. In some patients the horns were large enough to suggest obstructive hydrocephalus. Because of a new trend toward deinstitutionalization of patients with DS, radiologists will be seeing more studies on these patients and should familiarize themselves with the unique ways in which they manifest the aging process. (orig.)

  12. [Association analysis of SNP-63 and indel-19 variant in the calpain-10 gene with polycystic ovary syndrome in women of reproductive age].

    Flores-Martínez, Silvia Esperanza; Castro-Martínez, Anna Gabriela; López-Quintero, Andrés; García-Zapién, Alejandra Guadalupe; Torres-Rodríguez, Ruth Noemí; Sánchez-Corona, José

    2015-01-01

    Polycystic ovary syndrome is a complex and heterogeneous disease involving both reproductive and metabolic problems. It has been suggested a genetic predisposition in the etiology of this syndrome. The identification of calpain-10 gene (CAPN10) as the first candidate gene for type 2 diabetes mellitus, has focused the interest in investigating their possible relation with the polycystic ovary syndrome, because this syndrome is associated with hyperinsulinemia and insulin resistance, two metabolic abnormalities associated with type 2 diabetes mellitus. To investigate if there is association between the SNP-63 and the variant indel-19 of the CAPN10 gene and polycystic ovary syndrome in women of reproductive age. This study included 101 women (55 with polycystic ovary syndrome and 46 without polycystic ovary syndrome). The genetic variant indel-19 was identified by electrophoresis of the amplified fragments by PCR, and the SNP-63 by PCR-RFLP. The allele and genotype frequencies of the two variants do not differ significatly between women with polycystic ovary syndrome and control women group. The haplotype 21 (defined by the insertion allele of indel-19 variant and C allele of SNP-63) was found with higher frequency in both study groups, being more frequent in the polycystic ovary syndrome patients group, however, this difference was not statistically significant (p = 0.8353). The results suggest that SNP-63 and indel-19 variant of the CAPN10 gene do not represent a risk factor for polycystic ovary syndrome in our patients group. Copyright © 2015. Published by Masson Doyma México S.A.

  13. Associations Between Paternal Responsiveness and Stress Responsiveness in the Biparental California Mouse, Peromyscus californicus

    Chauke, Miyetani

    2012-01-01

    The mechanistic basis of paternal behavior in mammals is poorly understood. Assuming there are parallels between the factors mediating maternal and paternal behavior, it can be expected that the onset of paternal behavior is facilitated by reductions in stress responsiveness, as occurs in females of several mammalian species. This dissertation describes studies investigating the role of stress responsiveness in the expression of paternal behavior in biparental, monogamous California mice (Per...

  14. Age and other perioperative risk factors for postoperative systemic inflammatory response syndrome after cardiac surgery

    Dieleman, J. M.; Peelen, L. M.; Coulson, T. G.; Tran, L.; Reid, C. M.; Smith, Jennifer A.; Myles, P. S.; Pilcher, C.D.

    2017-01-01

    Background The inflammatory response to surgery varies considerably between individual patients. Age might be a substantial factor in this variability. Our objective was to examine the association of patient age and other potential risk factors with the occurrence of a postoperative systemic

  15. From here to paternity: neural correlates of the onset of paternal behavior in California mice (Peromyscus californicus).

    de Jong, Trynke R; Chauke, Miyetani; Harris, Breanna N; Saltzman, Wendy

    2009-08-01

    In a minority of mammalian species, including humans, fathers play a significant role in infant care. Compared to maternal behavior, the neural and hormonal bases of paternal care are poorly understood. We analyzed behavioral, neuronal and neuropeptide responses towards unfamiliar pups in biparental California mice, comparing males housed with another male ("virgin males") or with a female before ("paired males") or after ("new fathers") the birth of their first litter. New fathers approached pups more rapidly and spent more time engaging in paternal behavior than virgin males. In each cage housing two virgin males, one was spontaneously paternal and one was not. New fathers and paired males spent more time sniffing and touching a wire mesh ball containing a newborn pup than virgin males. Only new fathers showed significantly increased Fos-like immunoreactivity in the medial preoptic nucleus (MPO) following exposure to a pup-containing ball, as compared to an empty ball. Moreover, Fos-LIR in the bed nucleus of the stria terminalis (STMV and STMPM) and caudal dorsal raphe nucleus (DRC) was increased in new fathers, independent of test condition. No differences were found among the groups in Fos-LIR in oxytocinergic or vasopressinergic neurons. These results suggest that sexual and paternal experiences facilitate paternal behavior, but other cues play a role as well. Paternal experience increases Fos-LIR induced by distal pup cues in the MPO, but not in oxytocin and vasopressin neurons. Fatherhood also appears to alter neurotransmission in the BNST and DRC, regions implicated in emotionality and stress-responsiveness.

  16. Two-point discrimination and kinesthetic sense disorders in productive age individuals with carpal tunnel syndrome.

    Wolny, Tomasz; Saulicz, Edward; Linek, Paweł; Myśliwiec, Andrzej

    2016-06-16

    The aim of this study was to evaluate two-point discrimination (2PD) sense and kinesthetic sense dysfunctions in carpal tunnel syndrome (CTS) patients compared with a healthy group. The 2PD sense, muscle force, and kinesthetic differentiation (KD) of strength; the range of motion in radiocarpal articulation; and KD of motion were assessed. The 2PD sense assessment showed significantly higher values in all the examined fingers in the CTS group than in those in the healthy group (p<0.01). There was a significant difference in the percentage value of error in KD of pincer and cylindrical grip (p<0.01) as well as in KD of flexion and extension movement in the radiocarpal articulation (p<0.01) between the studied groups. There are significant differences in the 2PD sense and KD of strength and movement between CTS patients compared with healthy individuals.

  17. Identifying the metabolic syndrome in obese children and adolescents: do age and definition matter?

    van Vliet, Mariska; von Rosenstiel, Inès A; Schindhelm, Roger K; Brandjes, Dees P M; Beijnen, Jos H; Diamant, Michaela

    2009-09-01

    To assess the prevalence of the metabolic syndrome (MetS) in overweight/obese children and adolescents of an out-patient clinic, and to compare two definitions of MetS in adolescents. In total, 528 overweight / obese children (3-16 years), of multi-ethnic origin, underwent an oral glucose tolerance test, blood collections and anthropometric measurements. In children definitions was moderate (kappa =0.51), with the agreement for the MetS-criteria for abnormal lipid levels being substantial to very good (kappa =0.71 to 0.80). MetS-child was highly prevalent in overweight/obese children and adolescents. A higher prevalence of MetS according to adolescent- as compared to child-specific criteria was found.

  18. National Growth Charts for United Arab Emirates Children With Down Syndrome From Birth to 15 Years of Age

    H Aburawi, Elhadi; Nagelkerke, Nicolas; Deeb, Asma; Abdulla, Shahrban; Abdulrazzaq, Yousef M.

    2015-01-01

    Background Specific centile growth charts for children with Down syndrome (DS) have been produced in many countries and are known to differ from those of normal children. Since growth assessment depends on the growth pattern characteristic for these conditions, disorder-specific charts are desirable for various ethnic groups. Aims To provide cross-sectional weight, height, and head circumference (HC) references for healthy United Arab Emirates (UAE) children with DS. Methods A retrospective and cross-sectional growth study of Emirati children with DS, aged 0 to 18 years old, was conducted. Height, weight, and HC were measured in each child. Cole’s LMS statistical method was applied to estimate age-specific percentiles, and measurements were compared to UAE reference values for normal children. Results Incidence of DS in the UAE population is 1 in 374 live births (267 in 10 000 live births). We analyzed 1263 growth examinations of 182 children with DS born between 1994 and 2012. The male-to-female ratio was 1.6:1. Height, weight, and HC centile charts were constructed for ages 0 to 13 years. The prevalence of overweight and obesity in DS children aged 10 to 13 years of age was 32% and 19%, respectively. The DS children were significantly shorter and heavier than normal children in the UAE. Conclusions Weight, height, and HC growth charts were created for children with DS. These can be used as a reference standard for the UAE children with DS. Overweight and obesity are quite common in DS children ≥10 years of age, as DS children tend to be shorter and heavier than non-DS children. PMID:25196167

  19. Lifetime Prevalence, Age of Risk, and Etiology of Comorbid Psychiatric Disorders in Tourette Syndrome

    Hirschtritt, Matthew E.; Lee, Paul C.; Pauls, David L.; Dion, Yves; Grados, Marco A.; Illmann, Cornelia; King, Robert A.; Sandor, Paul; McMahon, William M.; Lyon, Gholson J.; Cath, Danielle C.; Kurlan, Roger; Robertson, Mary M.; Osiecki, Lisa; Scharf, Jeremiah M.; Mathews, Carol A.

    2015-01-01

    Importance Tourette syndrome (TS) is characterized by high rates of psychiatric comorbidity; however, few studies have fully characterized these comorbidities. Furthermore, most studies have included relatively few participants (Tourette syndrome was associated with increased risk of anxiety (odds ratio [OR], 1.4; 95% CI, 1.0–1.9; P = .04) and decreased risk of substance use disorders (OR, 0.6; 95% CI, 0.3–0.9; P = .02) independent from comorbid OCD and ADHD; however, high rates of mood disorders among participants with TS (29.8%) may be accounted for by comorbid OCD (OR, 3.7; 95% CI, 2.9–4.8; P < .001). Parental history of ADHD was associated with a higher burden of non-OCD, non-ADHD comorbid psychiatric disorders (OR, 1.86; 95% CI, 1.32–2.61; P < .001). Genetic correlations between TS and mood (RhoG, 0.47), anxiety (RhoG, 0.35), and disruptive behavior disorders (RhoG, 0.48), may be accounted for by ADHD and, for mood disorders, by OCD. Conclusions and Relevance This study is, to our knowledge, the most comprehensive of its kind. It confirms the belief that psychiatric comorbidities are common among individuals with TS, demonstrates that most comorbidities begin early in life, and indicates that certain comorbidities may be mediated by the presence of comorbid OCD or ADHD. In addition, genetic analyses suggest that some comorbidities may be more biologically related to OCD and/or ADHD rather than to TS. PMID:25671412

  20. 26 CFR 1.410(a)-9 - Maternity and paternity absence.

    2010-04-01

    ... 26 Internal Revenue 5 2010-04-01 2010-04-01 false Maternity and paternity absence. 1.410(a)-9... Maternity and paternity absence. (a) Elapsed time—(1) Rule. For purposes of applying the rules of § 1.410(a...)(5)(E) and 411(a)(6)(E) (relating to maternity or paternity absence), the severance from service date...

  1. How do masculinity, paternity leave, and mortality associate? -A study of fathers in the Swedish parental & child cohort of 1988/89.

    Månsdotter, Anna; Lundin, Andreas

    2010-08-01

    One of the proposed causes for the gender gap in longevity is the attitudes and practices culturally prescribed for men, often conceptualised as 'masculinity'. It has also been suggested that paternity leave, indicating a change from breadwinning to caring, could benefit men's lifetime health. In this study, the objective was to examine associations between 'masculinity' (assessed at the age of 18-19 years), paternity leave (1988-1990), and mortality patterns (1991-2008) based on a population of Swedish men who had a child in 1988/89 (N=72,569). 'Masculinity' was measured during the compulsory military conscription process by a psychologist based on leisure and occupational interests, and paternity leave was measured in fulltime days by registry data. The main finding was that low 'masculinity' ranking increased the risk of all-cause mortality, and mortality from alcohol and violent causes, while taking paternity leave between 30 and 135 days decreased the risk of all-cause mortality. However, the weak association found between 'masculinity' and paternity leave indicates that entering a caring role as a father is not predicted by 'masculinity' assessed in late adolescence, and that the studied phenomena influence male mortality independently of each other. Copyright 2010 Elsevier Ltd. All rights reserved.

  2. Genetic analysis of maternal and paternal lineages in Kabardian ...

    The high mitochondrial and also remarkable paternal diversity of the Kabardian horse is caused by its long history with a widely spread maternal origin and the introduction of Arabian as well as Thoroughbred influenced stallions for improvement. This high genetic diversity provides a good situation for the ongoing breed ...

  3. Paternity leave in Sweden: costs, savings and health gains.

    Månsdotter, Anna; Lindholm, Lars; Winkvist, Anna

    2007-06-01

    The initial objective is to examine the relationship between paternity leave in 1978-1979 and male mortality during 1981-2001, and the second objective is to calculate the cost-effectiveness of the 1974 parental insurance reform in Sweden. Based on a population of all Swedish couples who had their first child together in 1978 (45,801 males), the risk of death for men who took paternity leave, compared with men who did not, was estimated by odds ratios. The cost-effectiveness analysis considered costs for information, administration and production losses, minus savings due to decreased sickness leave and inpatient care, compared to health gains in life-years and quality-adjusted life-years (QALYs). It is demonstrated that fathers who took paternity leave have a statistically significant decreased death risk of 16%. Costs minus savings (discounted values) stretch from a net cost of EUR 19 million to a net saving of EUR 11 million, and the base case cost-effectiveness is EUR 8000 per QALY. The study indicates that that the right to paternity leave is a desirable reform based on commonly stated public health, economic, and feminist goals. The critical issue in future research should be to examine impact from health-related selection.

  4. Paternal Involvement with Children: The Influence of Gender Ideologies

    Bulanda, Ronald E.

    2004-01-01

    Although prior social science research has established the ability of gender ideologies to influence the domestic division of labor, it has neglected to disentangle their potentially unique influence on paternal involvement with children. Past research examining the influence of gender ideology on parenting behaviors does not acknowledge potential…

  5. Father Involvement: The Importance of Paternal Solo Care

    Wilson, Katherine R.; Prior, Margot R.

    2010-01-01

    Paternal time spent caring for children alone is qualitatively different from time together mediated by the presence of the mother and may be particularly relevant to father-child relations. Many fathers spend minimal time alone with their children. Indeed, it is still commonly referred to as "babysitting". We explored the concept of Solo Care as…

  6. Those They Leave behind: Paternal Incarceration and Maternal Instrumental Support

    Turney, Kristin; Schnittker, Jason; Wildeman, Christopher

    2012-01-01

    As the American imprisonment rate has risen, researchers have become increasingly concerned about the implications of mass imprisonment for family life. The authors extend this research by examining how paternal incarceration is linked to perceived instrumental support among the mothers of inmates' children. Results from the Fragile Families and…

  7. Falling Behind? Children's Early Grade Retention after Paternal Incarceration

    Turney, Kristin; Haskins, Anna R.

    2014-01-01

    A growing literature documents the myriad penalties for children of incarcerated fathers, but relatively little is known about how paternal incarceration contributes to educational outcomes in early and middle childhood. In this article, we use data from the Fragile Families and Child Wellbeing Study to provide the first estimates of the…

  8. Maternal Depression, Paternal Psychopathology, and Toddlers' Behavior Problems

    Dietz, Laura J.; Jennings, Kay Donahue; Kelley, Sue A.; Marshal, Michael

    2009-01-01

    This article examined the effects of maternal depression during the postpartum period (Time 1) on the later behavior problems of toddlers (Time 3) and tested if this relationship was moderated by paternal psychopathology during toddlers' lives and/or mediated by maternal parenting behavior observed during mother-child interaction (Time 2). Of the…

  9. Mechanisms and consequences of paternally transmitted chromosomal abnormalities

    Marchetti, F; Wyrobek, A J

    2005-04-05

    Paternally transmitted chromosomal damage has been associated with pregnancy loss, developmental and morphological defects, infant mortality, infertility, and genetic diseases in the offspring including cancer. There is epidemiological evidence linking paternal exposure to occupational or environmental agents with an increased risk of abnormal reproductive outcomes. There is also a large body of literature on germ cell mutagenesis in rodents showing that treatment of male germ cells with mutagens has dramatic consequences on reproduction producing effects such as those observed in human epidemiological studies. However, we know very little about the etiology, transmission and early embryonic consequences of paternally-derived chromosomal abnormalities. The available evidence suggests that: (1) there are distinct patterns of germ cell-stage differences in the sensitivity of induction of transmissible genetic damage with male postmeiotic cells being the most sensitive; (2) cytogenetic abnormalities at first metaphase after fertilization are critical intermediates between paternal exposure and abnormal reproductive outcomes; and, (3) there are maternally susceptibility factors that may have profound effects on the amount of sperm DNA damage that is converted into chromosomal aberrations in the zygote and directly affect the risk for abnormal reproductive outcomes.

  10. Soft Paternalism and Nudging - Critique of the Behavioral Foundations

    Pasche, Markus

    2014-01-01

    This brief note rises doubts on the argument that nudging will help people to behave more rational in terms of their own preferences. This justification of soft paternalism overlooks some methodological problems of expected utility theory which are one of the roots of behavioral economics.

  11. Unintended Consequences: Effects of Paternal Incarceration on Child School Readiness and Later Special Education Placement

    Anna R Haskins

    2014-04-01

    Full Text Available Though sociologists have examined how mass incarceration affects stratification, remarkably little is known about how it shapes educational disparities. Analyzing the Fragile Families Study and its rich paternal incarceration data, I ask whether black and white children with fathers who have been incarcerated are less prepared for school both cognitively and non-cognitively as a result, and whether racial and gendered disparities in incarceration help explain the persistence of similar gaps in educational outcomes and trajectories. Using a variety of estimation strategies, I show that experiencing paternal incarceration by age five is associated with lower non-cognitive school readiness. While the main effect of incarceration does not vary by race, boys with incarcerated fathers have substantially worse non-cognitive skills at school entry, impacting the likelihood of special education placement at age nine. Mass incarceration facilitates the intergenerational transmission of male behavioral disadvantage, and because of the higher exposure of black children to incarceration, it also plays a role in explaining the persistently low achievement of black boys.

  12. Dangerous dads? Ecological and longitudinal analyses of paternity leave and risk for child injury.

    Laflamme, Lucie; Månsdotter, Anna; Lundberg, Michael; Magnusson, Cecilia

    2012-11-01

    In 1974, Sweden became the first country to permit fathers to take paid parental leave. Other countries are currently following suit issuing similar laws. While this reform supports the principles of the United Nations convention of the right for children to be with both parents and enshrines the ethos of gender equality, there has been little systematic examination of its potential impact on child health. Instead, there is uninformed debate that fathers may expose their children to greater risks of injury than mothers. In this Swedish national study, the authors therefore assess whether fathers' parental leave can be regarded as a more serious risk factor for child injuries than that of mothers. Nationwide register-based ecological and longitudinal studies of hospitalisation due to injury (and intoxication) in early childhood, involving the Swedish population in 1973-2009 (ecological design), and children born in 1988 and 1989 (n=118 278) (longitudinal design). An increase in fathers' share of parental leave over time was parallelled by a downward trend in child injury rates (age 0-4 years). At the individual level, the crude incidence of child injury (age 0-2 years) was lower during paternity as compared with maternity leave. This association was, however, explained by parental socio-demographic characteristics (multivariate HR 0.96, 95% CI 0.74 to 1.2). There is no support for the notion that paternity leave increases the risk of child injury.

  13. Unintended Consequences: Effects of Paternal Incarceration on Child School Readiness and Later Special Education Placement.

    Haskins, Anna R

    2014-04-01

    Though sociologists have examined how mass incarceration affects stratification, remarkably little is known about how it shapes educational disparities. Analyzing the Fragile Families Study and its rich paternal incarceration data, I ask whether black and white children with fathers who have been incarcerated are less prepared for school both cognitively and non-cognitively as a result, and whether racial and gendered disparities in incarceration help explain the persistence of similar gaps in educational outcomes and trajectories. Using a variety of estimation strategies, I show that experiencing paternal incarceration by age five is associated with lower non-cognitive school readiness. While the main effect of incarceration does not vary by race, boys with incarcerated fathers have substantially worse non-cognitive skills at school entry, impacting the likelihood of special education placement at age nine. Mass incarceration facilitates the intergenerational transmission of male behavioral disadvantage, and because of the higher exposure of black children to incarceration, it also plays a role in explaining the persistently low achievement of black boys.

  14. Paternal and maternal factors in preimplantation embryogenesis: interaction with the biochemical environment.

    Ménézo, Yves J R

    2006-05-01

    Paternal effect on embryonic development occurs as early as fertilization. Incorrect formation of the spermatozoon due to centrosome defects and abnormal concentrations of any components involved in the activation process lead to failure immediately or in the subsequent cell cycles. Sperm chromosomal abnormalities result in early embryo developmental arrests. Generally poor spermatozoa lead to poor blastocyst formation. Sperm DNA fragmentation may impair even late post-implantation development. The DNA repair capacity of the oocytes is of major importance. Early preimplantation development, i.e. until maternal to zygotic transition, is maternally driven. Maternal mRNAs and proteins are of major importance, as there is an unavoidable turnover of these reserves. Polyadenylation of these mRNAs is precisely controlled, in order to avoid too early or too late transcription and translation of the housekeeping genes. An important set of maternal regulations, such as DNA stability, transcriptional regulation and protection against oxidative stress, are impaired by age. The embryo biochemical endogenous pool is very important and may depend upon the environment, i.e. the culture medium. Paternal, maternal and environmental factors are unavoidable parameters; they become evident when age impairs oocyte quality.

  15. Qualitative alteration of peripheral motor system begins prior to appearance of typical sarcopenia syndrome in middle-aged rats

    Tetsuro eTamaki

    2014-10-01

    Full Text Available Qualitative changes in the peripheral motor system were examined using Young, Adult, Middle-aged and Old-aged rats in order to assess before and after the appearance of sarcopenia symptoms. Significant loss of muscle mass and strength, and slow-type fiber grouping with a loss of innervated nerve fibers were used as typical markers of sarcopenia. Dynamic twitch and tetanus tension and evoked electromyogram (EEMG were measured via electrical stimulation through the sciatic nerve under anesthesia using our force-distance transducer system before and after sciatectomy. Digital and analogue data sampling was performed and shortening and relaxing velocity of serial twitches was calculated with tension force. Muscle tenderness in passive stretching was also measured as stretch absorption ability, associated with histological quantitation of muscle connective tissues. The results indicated the validity of the present model, in which Old-aged rats clearly showed the typical signs of sarcopenia, specifically in the fast-type plantaris muscles, while the slow-type soleus showed relatively mild syndromes. These observations suggest the following qualitative alterations as the pathophysiological mechanism of sarcopenia: 1 reduction of shortening and relaxing velocity of twitch; 2 decline of muscle tenderness following an increase in the connective tissue component; 3 impaired recruitment of motor units (sudden depression of tetanic force and EEMG in higher stimulation frequencies over 50-60 Hz; and 4 easy fatigability in the neuromuscular junctions. These findings are likely to be closely related to significant losses in fast-type motor units, muscle strength and contraction velocity, which could be a causative factor in falls in the elderly. Importantly, some of these symptoms began in Middle-aged rats that showed no other signs of sarcopenia. Thus, prevention should be started in middle age that could be retained relatively higher movement ability.

  16. QOL in caregivers of Japanese patients with Prader-Willi syndrome with reference to age and genotype.

    Ihara, Hiroshi; Ogata, Hiroyuki; Sayama, Masayuki; Kato, Aya; Gito, Masao; Murakami, Nobuyuki; Kido, Yasuhiro; Nagai, Toshiro

    2014-09-01

    This study aimed to measure quality of life (QOL) of the primary family caregivers for patients with Prader-Willi syndrome (PWS). Comparisons were made between caregivers' QOL in regard to their dependents' genotype and age group. The participants with PWS consisted of 22 children (aged from 6 to 12 years) and 23 adolescents (aged from 13 to 19 years), including 6 children and 7 adolescents with maternal uniparental disomy (mUPD) and 16 children and 16 adolescents with deletion (DEL). The QOL of the primary family caregiver for each patient was assessed using the Japanese version of the WHOQOL-BREF. To examine the effect that age (children vs. adolescents) and genotype (DEL vs. mUPD) have on the QOL of caregivers, a two-way ANOVA was conducted, followed by the Bonferroni procedure to test the simple main effects. The two age groups and the two genotypes of PWS were used as independent variables and the total QOL of caregivers as a dependent variable. The two-way ANOVA (F(1, 41) = 6.98, P caregivers of DEL adolescents showed little difference from that with DEL children, but the QOL of caregivers for mUPD adolescents was shown to be lower than that with mUPD children along with that of caregivers with DEL adolescents. There is hence a growing tendency for the deterioration in the QOL of caregivers to manifest itself later in the patients' adolescence, found mainly with mUPD patients. © 2014 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

  17. Sex- and age-specific associations between major depressive disorder and metabolic syndrome in two general population samples in Germany.

    Block, Andrea; Schipf, Sabine; Van der Auwera, Sandra; Hannemann, Anke; Nauck, Matthias; John, Ulrich; Völzke, Henry; Freyberger, Harald Jürgen; Dörr, Marcus; Felix, Stephan; Zygmunt, Marek; Wallaschofski, Henri; Grabe, Hans Jörgen

    2016-11-01

    Major depressive disorder (MDD) has been associated with the Metabolic Syndrome (MetS). As previous data strongly suggested sex and age effects on this association, this study aimed to analyse the association between MDD and MetS in two general population samples under explicit consideration of sex and age. This study analysed cross-sectional data based on two independent general population samples: SHIP-0 (n = 4083; 20-81 years; 49.4% male) and SHIP-TREND-0 (n = 3957; 20-83 years; 49.0% male) that were part of the Study of Health in Pomerania. MDD (SHIP-0: 12.6%; SHIP-TREND-0: 27.2%) was assessed using the Composite International Diagnostic-Screener (CID-S) in both samples. Interview assessment of MDD diagnosis according to Diagnostic and Statistical Manual of Mental Disorders IV (DSM-IV) criteria was performed in SHIP-TREND-0 (18.1% MDD). MetS was defined by abdominal obesity, elevated blood pressure, elevated glucose, elevated triglycerides and reduced high-density lipoprotein cholesterol according to established criteria. Data analysis was performed sex- and age-stratified. Prevalence of MetS was high in both samples: 19.4% of females and 30.2% of males in SHIP-0 and 22.1% and 33.2% in SHIP-TREND-0, respectively. Effect modifications were observed by sex and age on the association between MDD and MetS. Particularly, younger females (20-49 years) with MDD were more often affected by MetS than younger females without MDD: OR = 2.21 (95% CI = 1.39-3.50). This association vanished in elderly participants (50-82 years). The data suggest that especially younger (presumably pre-menopausal) females with MDD are more likely to have MetS than those without major depressive disorders, and that age extenuates this association.

  18. Shift Work and the Relationship with Metabolic Syndrome in Chinese Aged Workers

    Guo, Yanjun; Rong, Yi; Huang, Xiji; Lai, Hanpeng; Luo, Xin; Zhang, Zhihong; Liu, Yuewei; He, Meian; Wu, Tangchun; Chen, Weihong

    2015-01-01

    Background Shift work is indicated to be associated with adverse metabolic disorders. However, potential effects of shift work on metabolic syndrome (MetS) and its components have not been well established. Methods In total, 26,382 workers from Dongfeng-Tongji Cohort were included in this study. Information on shift work history was gathered through questionnaires and metabolic traits were measured. Logistic regression models were used to calculate the odds ratio (OR) and 95% confidence interval (CI) for long-term shift work related with MetS and each component, respectively. Further stratification analysis was performed to detect the differences on MetS between female and male shift workers. Results Long-term shift work was associated with MetS without adjusting for any confounders. Compared with the group of non-shift work, the multivariate-adjusted ORs (95%CI) of MetS associated with 1–10, 11−20, and ≥20y of shift work were 1.05 (0.95−1.16), 1.14 (1.03−1.26), 1.16 (1.01−1.31), respectively. In female workers, we found a dose-response relationship that every 10 years increase in shift work was associated with a 10% (95% CI: 1%−20%) elevated OR of MetS, while no significant dose-response trend was found among male workers. Furthermore, shift work duration was significantly associated with ORs of high blood pressure (1.07, 1.01−1.13), long waist circumference (1.10, 1.01−1.20) and high glucose levels (1.09, 1.04−1.15). No significant association was observed between shift work and low HDL cholesterol) and raised triglyceride levels. Conclusions Long-term shift work was associated with metabolic syndrome and the association might differ by gender in retired workers. Applicable intervention strategies are needed for prevention of metabolic disorders for shift workers. PMID:25761114

  19. The role of mTOR in ovarian cancer, polycystic ovary syndrome and ovarian aging.

    Liu, Jin; Wu, Dai-Chao; Qu, Li-Hua; Liao, Hong-Qing; Li, Mei-Xiang

    2018-05-12

    The mammalian target of rapamycin, mTOR, is a serine-threonine protein kinase downstream of the phosphatidylinositol 3-kinase (PI3K)-AKT axis. The pathway can regulate cell growth, proliferation, and survival by activating ribosomal kinases. Recent studies have implicated the mTOR signaling pathway in ovarian neoplasms, polycystic ovary syndrome (PCOS) and premature ovarian failure (POF). Preclinical investigations have demonstrated that the PI3K/AKT/mTOR pathway is frequently activated in the control of various ovarian functions. mTOR allows cancer cells to escape the normal biochemical system and regulates the balance between apoptosis and survival. Some recent studies have suggested that involvement of the mTOR signaling system is an important pathophysiological basis of PCOS. Overexpression of the mTOR pathway can impair the interaction of cumulus cells, lead to insulin resistance, and affect the growth of follicles directly. The roles of mTOR signaling in follicular development have been extensively studied in recent years; abnormalities in this process lead to a series of pathologies such as POF and infertility. To improve understanding of the role of the mTOR signaling pathway in the pathogenesis and development of ovarian diseases, here we review the roles of mTOR signaling in such diseases and discuss the corresponding therapeutic strategies that target this pathway. This article is protected by copyright. All rights reserved. © 2018 Wiley Periodicals, Inc.

  20. Nonalcoholic Fatty Liver Disease: Prevalence, Influence on Age and Sex, and Relationship with Metabolic Syndrome and Insulin Resistance

    Hui-Yun Cheng

    2013-12-01

    Conclusion: Fatty liver can be considered as the hepatic consequence of metabolic syndrome, specifically IR. There is a high prevalence of metabolic syndrome and fatty liver among the elderly population. Metabolic disorders are closely related to fatty liver; moreover, fatty liver appears to be a good predictor for the clustering of risk factors for metabolic syndrome.

  1. Medication Trials for Hyperphagia and Food-Related Behaviors in Prader–Willi Syndrome

    Jennifer L. Miller

    2015-06-01

    Full Text Available Prader-Willi syndrome (PWS is a neurodevelopmental disorder caused by the absence of paternally expressed, imprinted genes on chromosome 15q11-13. Individuals with PWS characteristically have poor feeding and lack of appetite in infancy, followed by the development of weight gain and then uncontrolled appetite and lack of satiety, sometime after the age of two. The overwhelming drive to eat is coupled with reduced energy expenditure and decreased caloric requirements, thus, individuals with PWS will become severely obese unless their food intake is strictly controlled. The mechanisms underlying hyperphagia in PWS remain incompletely understood, and to date no drugs have proven effective in controlling appetite. However, clinical trials have started for several medications, which may provide therapeutic options for those with PWS. These medication trials may also provide insight into potential treatments for obesity in the general population. Ideally, these treatments will help alleviate the complex metabolic issues that are part of this syndrome.

  2. Challenges of Undergoing Dialysis With Emphasis on Aging Syndromes in the Elderly

    Ehterm Sadat Ilali

    2017-03-01

    Conclusion The number of elderly people undergoing dialysis has increased, and it seems that we need to know more about the problems of this age group. With the increasing awareness and knowledge about these problems, we can plan prevention, care, and rehabilitation programs for the elderly people with dialysis.

  3. Regulatory landscape of AGE-RAGE-oxidative stress axis and its modulation by PPARγ activation in high fructose diet-induced metabolic syndrome.

    Cannizzaro, Luca; Rossoni, Giuseppe; Savi, Federica; Altomare, Alessandra; Marinello, Cristina; Saethang, Thammakorn; Carini, Marina; Payne, D Michael; Pisitkun, Trairak; Aldini, Giancarlo; Leelahavanichkul, Asada

    2017-01-01

    The AGE-RAGE-oxidative stress (AROS) axis is involved in the onset and progression of metabolic syndrome induced by a high-fructose diet (HFD). PPARγ activation is known to modulate metabolic syndrome; however a systems-level investigation looking at the protective effects of PPARγ activation as related to the AROS axis has not been performed. The aim of this work is to simultaneously characterize multiple molecular parameters within the AROS axis, using samples taken from different body fluids and tissues of a rat model of HFD-induced metabolic syndrome, in the presence or absence of a PPARγ agonist, Rosiglitazone (RGZ). Rats were fed with 60% HFD for the first half of the treatment duration (21 days) then continued with either HFD alone or HFD plus RGZ for the second half. Rats receiving HFD alone showed metabolic syndrome manifestations including hypertension, dyslipidemia, increased glucose levels and insulin resistance, as well as abnormal kidney and inflammatory parameters. Systolic blood pressure, plasma triglyceride and glucose levels, plasma creatinine, and albuminuria were significantly improved in the presence of RGZ. The following molecular parameters of the AROS axis were significantly upregulated in our rat model: carboxymethyl lysine (CML) in urine and liver; carboxyethyl lysine (CEL) in urine; advanced glycation end products (AGEs) in plasma; receptor for advanced glycation end products (RAGE) in liver and kidney; advanced oxidation protein products (AOPP) in plasma; and 4-hydroxynonenal (HNE) in plasma, liver, and kidney. Conversely, with RGZ administration, the upregulation of AOPP and AGEs in plasma, CML and CEL in urine, RAGE in liver as well as HNE in plasma and liver was significantly counteracted/prevented. Our data demonstrate (i) the systems-level regulatory landscape of HFD-induced metabolic syndrome involving multiple molecular parameters, including HNE, AGEs and their receptor RAGE, and (ii) attenuation of metabolic syndrome by

  4. Do peer relations in adolescence influence health in adulthood? Peer problems in the school setting and the metabolic syndrome in middle-age.

    Per E Gustafsson

    Full Text Available While the importance of social relations for health has been demonstrated in childhood, adolescence and adulthood, few studies have examined the prospective importance of peer relations for adult health. The aim of this study was to examine whether peer problems in the school setting in adolescence relates to the metabolic syndrome in middle-age. Participants came from the Northern Swedish Cohort, a 27-year cohort study of school leavers (effective n = 881, 82% of the original cohort. A score of peer problems was operationalized through form teachers' assessment of each student's isolation and popularity among school peers at age 16 years, and the metabolic syndrome was measured by clinical measures at age 43 according to established criteria. Additional information on health, health behaviors, achievement and social circumstances were collected from teacher interviews, school records, clinical measurements and self-administered questionnaires. Logistic regression was used as the main statistical method. Results showed a dose-response relationship between peer problems in adolescence and metabolic syndrome in middle-age, corresponding to 36% higher odds for the metabolic syndrome at age 43 for each SD higher peer problems score at age 16. The association remained significant after adjustment for health, health behaviors, school adjustment or family circumstances in adolescence, and for psychological distress, health behaviors or social circumstances in adulthood. In analyses stratified by sex, the results were significant only in women after adjustment for covariates. Peer problems were significantly related to all individual components of the metabolic syndrome. These results suggest that unsuccessful adaption to the school peer group can have enduring consequences for metabolic health.

  5. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

    Wilkin, D J; Szabo, J K; Cameron, R; Henderson, S; Bellus, G A; Mack, M L; Kaitila, I; Loughlin, J; Munnich, A; Sykes, B; Bonaventure, J; Francomano, C A

    1998-01-01

    More than 97% of achondroplasia cases are caused by one of two mutations (G1138A and G1138C) in the fibroblast growth factor receptor 3 (FGFR3) gene, which results in a specific amino acid substitution, G380R. Sporadic cases of achondroplasia have been associated with advanced paternal age, suggesting that these mutations occur preferentially during spermatogenesis. We have determined the parental origin of the achondroplasia mutation in 40 sporadic cases. Three distinct 1-bp polymorphisms were identified in the FGFR3 gene, within close proximity to the achondroplasia mutation site. Ninety-nine families, each with a sporadic case of achondroplasia in a child, were analyzed in this study. In this population, the achondroplasia mutation occurred on the paternal chromosome in all 40 cases in which parental origin was unambiguous. This observation is consistent with the clinical observation of advanced paternal age resulting in new cases of achondroplasia and suggests that factors influencing DNA replication or repair during spermatogenesis, but not during oogenesis, may predispose to the occurrence of the G1138 FGFR3 mutations. PMID:9718331

  6. Wolff-Parkinson-White syndrome in young people, from childhood to young adulthood: relationships between age and clinical and electrophysiological findings

    Hae Jung Jung

    2011-12-01

    Full Text Available Purpose : The aim of the present study was to evaluate the characteristics of electrophysiologic studies (EPS and radiofrequency ablation (RFA performed in subjects aged less than 30 years with Wolff-Parkinson-White (WPW syndrome, particularly pediatric patients under 18 years of age, based on our experience. Methods : Two hundred and one consecutive patients with WPW syndrome were recruited and divided to 3 groups according to age: group 1, 6 to 17 years; group 2, 18 to 29 years; and group 3, 30 to 60 years. The clinical, electrophysiological, and therapeutic data for these patients were evaluated by a retrospective medical record review. Results : A total of 73 (36% of these patients were &lt;30 years of age. Although there were more males than females in group 2 (male:female, 31:11, there was no sex difference in group 1 (male:female, 16:15. Left accessory pathway was detected less frequently in group 1 (32%, 10/31 than in group 2 (57%, 24/42 and group 3 (63%, 81/128 (P=0.023 and P=0.002, respectively. Conclusion : The present study describes several different electrophysiological characteristics in children and adolescents with WPW syndrome. Therefore, when EPS and RFA are performed in children and adolescence with WPW syndrome, we recommend that these characteristics be considered.

  7. [Prevalence of metabolic syndrome in indigenous people over 40 years of age in Rio Grande do Sul, Brazil].

    da Rocha, Ana Karina Silva; Bós, Angelo José Gonçalves; Huttner, Edison; Machado, Denise Cantarelli

    2011-01-01

    To investigate the prevalence of the metabolic syndrome (MS) among indigenous people older than 40 years of age from two cities in the State of Rio Grande do Sul, southern Brazil. A descriptive, analytic, cross-sectional study was conducted in two municipalities, Porto Alegre and Nonoai, between July and August 2009. A total of 150 indigenous people older than 40 years of age (range: 40-104 years), participated in the study. MS prevalence was determined based on National Cholesterol Education Program - Adult Treatment Panel III criteria. Blood samples and anthropometric data were collected. The participants also answered a questionnaire on eating habits, which was then contrasted to the 10 steps to healthy eating proposed by the World Health Organization and recommended by the Brazilian Ministry of Health. MS prevalence was 65.3%, affecting women more than men (P motivation for healthy behaviors is possibly the best way to manage MS and promote health in a population that is still neglected by public health policies.

  8. Neonatal abstinence syndrome: Neurobehavior at 6 weeks of age in infants with or without pharmacological treatment for withdrawal.

    Heller, Nicole A; Logan, Beth A; Morrison, Deborah G; Paul, Jonathan A; Brown, Mark S; Hayes, Marie J

    2017-07-01

    Use and abuse of prescription opioids and concomitant increase in Neonatal Abstinence Syndrome (NAS), a condition that may lead to protracted pharmacological treatment in more than 60% of infants, has tripled since 2000. This study assessed neurobehavioral development using the NICU Network Neurobehavioral Scale in 6-week old infants with prenatal methadone exposure who did (NAS+; n = 23) or did not (NAS-; n = 16) require pharmacological treatment for NAS severity determined by Finnegan Scale. An unexposed, demographically similar group of infants matched for age served as comparison (COMP; n = 21). NAS+, but not NAS- group, had significantly lower scores on the regulation (p < .01) and quality of movement (p < .01) summary scales than the COMP group. The NAS+ and NAS- groups had higher scores on the stress-abstinence scale than the COMP group (p < .05). NAS diagnosis (NAS +) was associated with poorer regulation and quality of movement at 6 weeks of age compared to infants without prenatal methadone exposure from the same demographic. © 2017 Wiley Periodicals, Inc.

  9. Serum total bilirubin levels are negatively correlated with metabolic syndrome in aged Chinese women: a community-based study.

    Zhong, P; Sun, D M; Wu, D H; Li, T M; Liu, X Y; Liu, H Y

    2017-01-26

    We evaluated serum total bilirubin levels as a predictor for metabolic syndrome (MetS) and investigated the relationship between serum total bilirubin levels and MetS prevalence. This cross-sectional study included 1728 participants over 65 years of age from Eastern China. Anthropometric data, lifestyle information, and previous medical history were collected. We then measured serum levels of fasting blood-glucose, total cholesterol, triglycerides, and total bilirubin, as well as alanine aminotransferase activity. The prevalence of MetS and each of its individual component were calculated per quartile of total bilirubin level. Logistic regression was used to assess the correlation between serum total bilirubin levels and MetS. Total bilirubin level in the women who did not have MetS was significantly higher than in those who had MetS (Pbilirubin quartiles were linearly and negatively correlated with MetS prevalence and hypertriglyceridemia (HTG) in females (Pbilirubin was an independent predictor of MetS for females (OR: 0.910, 95%CI: 0.863-0.960; P=0.001). The present study suggests that physiological levels of serum total bilirubin might be an independent risk factor for aged Chinese women, and the prevalence of MetS and HTG are negatively correlated to serum total bilirubin levels.

  10. Preschool Psychopathology Reported by Parents in 23 Societies: Testing the Seven-Syndrome Model of the Child Behavior Checklist for Ages 1.5-5

    Ivanova, Masha Y.; Achenbach, Thomas M.; Rescorla, Leslie A.; Harder, Valerie S.; Ang, Rebecca P.; Bilenberg, Niels; Bjarnadottir, Gudrun; Capron, Christiane; De Pauw, Sarah S. W.; Dias, Pedro; Dobrean, Anca; Doepfner, Manfred; Duyme, Michele; Eapen, Valsamma; Erol, Nese; Esmaeili, Elaheh Mohammad; Ezpeleta, Lourdes; Frigerio, Alessandra; Goncalves, Miguel M.; Gudmundsson, Halldor S.; Jeng, Suh-Fang; Jetishi, Pranvera; Jusiene, Roma; Kim, Young-Ah; Kristensen, Solvejg; Lecannelier, Felipe; Leung, Patrick W. L.; Liu, Jianghong; Montirosso, Rosario; Oh, Kyung Ja; Plueck, Julia; Pomalima, Rolando; Shahini, Mimoza; Silva, Jaime R.; Simsek, Zynep; Sourander, Andre; Valverde, Jose; Van Leeuwen, Karla G.; Woo, Bernardine S. C.; Wu, Yen-Tzu; Zubrick, Stephen R.; Verhulst, Frank C.

    2010-01-01

    Objective: To test the fit of a seven-syndrome model to ratings of preschoolers' problems by parents in very diverse societies. Method: Parents of 19,106 children 18 to 71 months of age from 23 societies in Asia, Australasia, Europe, the Middle East, and South America completed the Child Behavior Checklist for Ages 1.5-5 (CBCL/1.5-5). Confirmatory…

  11. Suboptimal maternal and paternal mental health are associated with child bullying perpetration.

    Shetgiri, Rashmi; Lin, Hua; Flores, Glenn

    2015-06-01

    This study examines associations between maternal and paternal mental health and child bullying perpetration among school-age children, and whether having one or both parents with suboptimal mental health is associated with bullying. The 2007 National Survey of Children's Health, a nationally-representative, random-digit-dial survey, was analyzed, using a parent-reported bullying measure. Suboptimal mental health was defined as fair/poor (vs. good/very good/excellent) parental self-reported mental and emotional health. Of the 61,613 parents surveyed, more than half were parents of boys and were white, 20% were Latino, 15% African American, and 7% other race/ethnicity. Suboptimal maternal (OR 1.4; 95% CI 1.1-1.8) and paternal (OR 1.5; 95% CI 1.1-2.2) mental health are associated with bullying. Compared with children with no parents with suboptimal mental health, children with only one or both parents with suboptimal mental health have higher bullying odds. Addressing the mental health of both parents may prove beneficial in preventing bullying.

  12. Epidemiologic investigation of polycystic ovarian syndrome (PCOS) in Han ethnic women of reproductive age in Liaoning Province, China.

    Jiao, J; Fang, Y; Wang, T; Wang, Z; Zhou, M; Wang, X

    2014-01-01

    To determine the incidence of polycystic ovary syndrome (PCOS) among Han women of reproductive age in Liaoning Province in Northeastern China, based on the Revised Rotterdam 2003 criteria. A retrospective cohort study was carried out on 1,600 women using questionnaires, physical examination, ultrasonography, and biochemical indices (aged = 19 to 45 years; n = 1,600). PCOS patients were identified using the Revised Rotterdam 2003 criteria. A total of 132 Han women of reproductive age were diagnosed with PCOS, with a prevalence of 8.25%. The prevalence of menstrual dysfunction was as follows: 97 patients (73.48%) had abnormal menstruation, three (2.27%) had polymenorrhea, and 94 (71.21%) had oligomenorrhea. Up to 64 patients (48.48%) had androgen excess, 42 (31.82%) had biochemical evidence of androgen excess, and 34 (25.76%) had clinical androgen excess. Up to 34 patients (25.76%) were obese (body mass index [BMI] > or = 25) and 19 (14.39%) had hirsutism (F-G scoring > or = 6). A total of 127 patients (96.22%) were diagnosed with PCOS via ultrasonography, 67 of whom (50.76%) had a unilateral polycystic ovary and 60 (45.46%) had bilateral polycystic ovaries. The prevalence of PCOS in this study population was 8.25%, with an infertility rate of 27.8%. The classical manifestation of PCOS is PCO, abnormal menstruation, and obesity. The high-risk factors of PCOS include high free testosterone index, homeostasis model assessment-insulin resistance (HOMA-IR), increased serum testosterone and androstenedione, decreased sex hormone-binding globulin, long history of infertility, menarche later than 16 years old, and failure to have regular menstruation within two years.

  13. Maternal Depression, Paternal Psychopathology, and Toddlers’ Behavior Problems

    Dietz, Laura J.; Jennings, Kay Donahue; Kelley, Sue A.; Marshal, Michael

    2013-01-01

    This article examined the effects of maternal depression during the postpartum period (Time 1) on the later behavior problems of toddlers (Time 3) and tested if this relationship was moderated by paternal psychopathology during toddlers’ lives and/or or mediated by maternal parenting behavior observed during mother–child interaction (Time 2). Of the 101 mothers who participated in this longitudinal study with their toddlers, 51 had never experienced an episode of Major Depressive Disorder (MDD) and 50 had experienced an episode of MDD during the first 18 months of their toddlers’ lives. Maternal depression at Time 1 was significantly associated with toddlers’ externalizing and internalizing behavior problems only when paternal psychopathology was present. As predicted, maternal negativity at Time 2 was found to mediate the relationship between maternal depression at Time 1 and toddlers’ externalizing behavior problems at Time 3. PMID:19130357

  14. Consequences Paternity Leave on Allocation of Childcare and Domestic Tasks

    Esteban Torres

    2015-01-01

    Full Text Available One of the main objectives of parental leave policies aimed exclusively at fathers is to promote gender equality in the productive and reproductive spheres. The aim of this study is to examine whether the use of paternity leave fosters greater involvement of fathers in the division of tasks within the reproductive sphere, specifi cally child care and housework. Based on data from the survey, ?Social use of parental leave in Spain, 2012?, we have created multivariate models using ordinary least squares regression. The sample used in the analysis consists of 600 fathers who have had at least one child since 2007. The results suggest that paternity leave does encourage greater involvement by fathers in childcare, but the effect is limited, as it is only found for fathers after the birth of their fi rst child.

  15. Prevalence of the geriatric syndromes and frailty in older men living in the community: The Concord Health and Ageing in Men Project.

    Noguchi, Naomi; Blyth, Fiona M; Waite, Louise M; Naganathan, Vasi; Cumming, Robert G; Handelsman, David J; Seibel, Markus J; Le Couteur, David G

    2016-12-01

    To describe the age at which the geriatric syndromes and frailty become common in community-dwelling men. The Concord Health and Ageing in Men Project involves a population-based sample of 1705 community-dwelling men aged 70 and over from a defined geographic region in Sydney. Data were obtained by physical performance tests, clinical examinations, and questionnaire to determine the prevalence of the following conditions by five-year age group. Poor mobility, recurrent falls, urinary incontinence, dementia and frailty phenotype were all uncommon (less than 10%) in men in their 70s, but the prevalence of each of these conditions exceeded 10% in men aged 85-89. The prevalence of Frailty Index-defined frailty, multimorbidity, polypharmacy and instrumental activities of daily living dependence was constantly high in all age groups. The different health-care needs of the 'old old' aged 85 years and older should be accounted for in health service planning. © 2016 AJA Inc.

  16. Paternal occupational contact level and childhood leukaemia in rural Scotland: a case-control study.

    Kinlen, L J; Bramald, S

    2001-04-06

    In a national Scottish study of 809 cases of leukaemia and non-Hodgkins lymphoma diagnosed in 1950-89 among children aged 0-4 years who were born in Scotland, together with 2363 matched population controls, we investigated one aspect of the infective hypothesis. This concerns whether in rural areas (where the prevalence of susceptible individuals is likely to be higher) the risk is greater among the young children of men whose work involves contacts with many different people, particularly children, as noted in certain childhood infections. A positive trend was found in rural areas across 3 levels of increasing paternal occupational contact (as recorded at birth) by each of 2 previously defined classifications; no such effect was found in urban areas. The rural trend was more marked in that part of the study period with greater population mixing, but the difference from the period with less mixing was not itself significant, leaving open whether these rural findings reflect the extreme isolation of much of rural Scotland, or the effects in such areas of a degree of population mixing. In marked contrast, among the 850 cases and 2492 controls aged 5-14, those in rural areas in the higher population mixing period showed a significantly decreasing trend with increasing paternal occupational contact level. This would be consistent with immunity produced either by earlier infection at ages 0-4 years, or directly by low doses of the infective agent that were largely immunizing at these older ages. The findings overall provide further support for infection underlying childhood leukaemia and for the role of adults. Copyright 2001 Cancer Research Campaign http://www.bjcancer.com.

  17. Effects of paternal obesity on growth and adiposity of male rat offspring.

    Lecomte, Virginie; Maloney, Christopher A; Wang, Kristy W; Morris, Margaret J

    2017-02-01

    Emerging evidence suggests that paternal obesity plays an important role in offspring health. Our previous work using a rodent model of diet-induced paternal obesity showed that female offspring from high-fat diet (HFD)-fed fathers develop glucose intolerance due to impairment of pancreatic insulin secretion. Here, we focused on the health outcomes of male offspring from HFD-fed fathers. Male Sprague-Dawley rats (3 wk old) were fed control (CD-F0) or HFD (HFD-F0) for 12 wk before mating with control-fed females. Male offspring were fed control diets for up to 8 wk or 6 mo. Although male offspring from HFD-F0 did not develop any obvious glucose metabolism defects in this study, surprisingly, a growth deficit phenotype was observed from birth to 6 mo of age. Male offspring from HFD-F0 had reduced birth weight compared with CD-F0, followed by reduced postweaning growth from 9 wk of age. This resulted in 10% reduction in body weight at 6 mo with significantly smaller fat pads and skeletal muscles. Reduced circulating levels of growth hormone (GH) and IGF-I were detected at 8 wk and 6 mo, respectively. Expression of adipogenesis markers was decreased in adipose tissue of HFD-F0 offspring at 8 wk and 6 mo, and expression of growth markers was decreased in muscle of HFD-F0 offspring at 8 wk. We propose that the reduced GH secretion at 8 wk of age altered the growth of male offspring from HFD-F0, resulting in smaller animals from 9 wk to 6 mo of age. Furthermore, increased muscle triglyceride content and expression of lipogenic genes were observed in HFD-F0 offspring, potentially increasing their metabolic risk. Copyright © 2017 the American Physiological Society.

  18. Patterns of paternity skew among polyandrous social insects

    Jaffé, Rodolfo; Garcia-Gonzalez, Francisco; den Boer, Susanne

    2012-01-01

    Monogamy results in high genetic relatedness among offspring and thus it is generally assumed to be favored by kin selection. Female multiple mating (polyandry) has nevertheless evolved several times in the social Hymenoptera (ants, bees, and wasps), and a substantial amount of work has been cond...... the potential for postcopulatory sexual selection to influence patterns of paternity in social insects, and suggest that sexual selection may have played a key, yet overlooked role in social evolution....

  19. Beyond the Consent Dilemma in Libertarian Paternalism, a Normative Void

    Baujard, Antoinette

    2015-01-01

    CNRS : NR; AERES: NR; International audience; I am convinced by Alain Marciano’s argument (Marciano 2015). He remarks that consent to the condition of choice is considered by neoclassicaleconomics to be an external issue. And although it does remain an issue as far as the theory of rational choice is concerned, there too it is notunjustified to consider it as an external one. For libertarian paternalism, though, it becomes an internal issue as soon as the suppositions ofrationality and perfec...

  20. Behavioral economics and the ‘new’ paternalism1

    Rostislav Kapeliushnikov

    2015-03-01

    Full Text Available The paper provides a critical appraisal of the normative program of behavioral economics known as ‘new paternalism’. First, it explores the theoretical foundations of behavioral economics, describes major behavioral anomalies associated with bounded rationality of economic agents and discusses its normative principles and political implications. It then discusses the main empirical and conceptual drawbacks of new paternalism and provides arguments for the alternative non-welfarist normative tradition based on the idea of freedom.

  1. Paid maternity and paternity leave: rights and choices.

    Jordan, Claire

    2007-01-01

    From April 2007 onwards, maternity leave will be raised to nine months Paid maternity leave is associated with significant health benefits for babies, including reduced infant mortality The Government proposes to increase paid maternity leave to one year and introduce additional paternity leave by around 2009 The U.K's provision for maternity leave and child care is more generous than the U.S.A. or Australia but less than in the Scandinavian countries

  2. Parenting with style: Altruism and paternalism in intergenerational preference transmission

    Doepke, Matthias; Zilibotti, Fabrizio

    2012-01-01

    We develop a theory of intergenerational transmission of preferences that rationalizes the choice between alternative parenting styles (as set out in Baumrind 1967). Parents maximize an objective function that combines Beckerian altruism and paternalism towards children. They can affect their children's choices via two channels: either by influencing children's preferences or by imposing direct restrictions on their choice sets. Different parenting styles (authoritarian, authoritative, and pe...

  3. Age

    ... adults? How can you reduce anesthesia risks in older patients? Age Age may bring wisdom but it also brings ... Ask your physician to conduct a pre-surgery cognitive test — an assessment of your mental function. The physician can use the results as a ...

  4. Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XYidic(14)(p11)

    Walter, C.A.; Moore, C.M.; Kaye, C.I. [Univ. of Texas Health Science Center, San Antonio, TX (United States)] [and others

    1996-11-11

    Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant alleles. Here we present the findings in a child with paternal UPD14. Ultrasound evaluation was performed at 30 weeks of gestation because of abnormally large uterine size. Pertinent ultrasound findings included polyhydramnios, short limbs, abnormal position of hands, small thorax, and nonvisualization of the fetal stomach. Postnatally the infant was found to have a low birth weight, short birth length, contractures, short limbs, and a small thorax with upslanting ribs. Assisted ventilation and gastrostomy were required. At age 6 months, the infant required hospitalization for hypertrophic cardiomyopathy which responded to Atenolol{reg_sign}. Initial cytogenetic studies demonstrated an apparently balanced de novo Robertsonian translocation involving chromosomes 14 and a karyotype designation of 45,XY,t(14q14q). No indication of mosaicism for trisomy 14 was observed in metaphase spreads prepared from peripheral blood lymphocytes or skin-derived fibroblasts. C-band and fluorescence in situ hybridization results demonstrated that the chromosome was dicentric. DNA analyses showed paternal uniparental isodisomy for chromosome 14. Based on the cytogenetic and DNA results a final karyotype designation of 45,XY,idic(14)(p11) was assigned to this infant with paternal isodisomy of chromosome 14. 41 refs., 5 figs., 2 tabs.

  5. Father-child and mother-child interaction in families with a child feeding disorder: The role of paternal involvement.

    Atzaba-Poria, Naama; Meiri, Gal; Millikovsky, Maaian; Barkai, Anat; Dunaevsky-Idan, Maayan; Yerushalmi, Baruch

    2010-11-01

    To date, research about feeding disorder (FD) has focused almost exclusively on the mother-child dyad, ignoring fathers' roles. The current study investigated father-child interactions with children having FD. The sample consisted of 67 children (1-3 years old) and their mothers and fathers. Thirty-four children, diagnosed with a nonorganic-based FD (FD group) and 33 children without an FD (control group) were matched for age, gender, birth order, and maternal education. Data were collected during home visits. Mothers were interviewed about their and the father's involvement in childcare. In addition, mother-child and father-child interactions were videotaped during play and feeding. Both mothers and fathers from the FD group experienced less positive parent-child interactions than did parents in the control group. Furthermore, mothers in the FD group reported greater maternal versus paternal childcare involvement than did control group mothers. Finally, FD group mothers exhibited more parental sensitivity than did fathers during feeing interactions; however, this difference was observed only when coupled with low paternal involvement. In families where fathers were highly involved, no difference was evident in paternal and maternal sensitivity. These findings highlight the importance of fathers' involvement, especially in families with children exhibiting an FD. Copyright © 2010 Michigan Association for Infant Mental Health.

  6. Maternal and paternal parenting practices and their influence on children's adiposity, screen-time, diet and physical activity.

    Lloyd, Adam B; Lubans, David R; Plotnikoff, Ronald C; Collins, Clare E; Morgan, Philip J

    2014-08-01

    The primary aim of this study was to examine a range of potential behavioral and maternal/paternal correlates of adiposity in children. Secondary aims were to examine (a) correlates of screen-time, diet and physical activity and (b) if there were differences in maternal and paternal physical activity- and dietary-related parenting practices. Cross-sectional analysis was conducted using 70 families with children (59% boys (41/70), mean age 8.4 (±2.4) years). Parenting practices were measured using the Parenting Strategies for Eating and Activity Scale. Children's outcomes included: 7-day pedometry (physical activity), screen-time, percent energy from core foods (Food frequency questionnaire) and BMI z-score. Multiple regression models were generated to examine the associations between maternal and paternal parenting practices and children's variables. In the regression analyses, fathers' BMI (p parenting practices [limit setting (p = .01), reinforcement (p = .02)] and child screen-time (p = .02) were significantly associated with intake of core foods. Despite some similarities within families, three out of five parenting constructs were significantly different between mothers and fathers. Mothers and fathers have different parental influences on their children's weight status and lifestyle behaviors and both should be included in lifestyle interventions targeting children. A focus on maternal parenting specifically relating to screen-time and diet, and father's physical activity parenting and weight status may support their children in developing more healthy behaviors. Copyright © 2014 Elsevier Ltd. All rights reserved.

  7. Early-Onset Paternal Smoking and Offspring Adiposity: Further Investigation of a Potential Intergenerational Effect Using the HUNT Study.

    David Carslake

    Full Text Available Recently it has been suggested that rearing conditions during preadolescence in one generation may affect health outcomes in subsequent generations. Such parental effects, potentially induced by epigenetic modifications in the germ line, have attracted considerable attention because of their implications for public health and social policies. Yet, to date, evidence in humans has been rare due to data limitations and much further investigation in large studies is required. The aim of this paper is to reproduce and extend a recent study which found that paternal smoking before age 11 was associated with elevated body mass index (BMI among male offspring in the Avon Longitudinal Study of Parents and Children (ALSPAC. Using the Nord-Trøndelag Health (HUNT Study, we find that paternal smoking during pre-adolescence (45,000 offspring, we cannot rule out a weaker association, perhaps common to sons and daughters, which would be consistent with the ALSPAC study. Alternatively, we discuss whether confounding, chance in parallel tests, or sample selection effects might explain the observed associations of early paternal smoking with offspring BMI.

  8. Multiple paternity in polyandrous barn owls (Tyto alba.

    Isabelle Henry

    Full Text Available In polyandrous species females produce successive clutches with several males. Female barn owls (Tyto alba often desert their offspring and mate to produce a 2(nd annual brood with a second male. We tested whether copulating during chick rearing at the 1(st annual brood increases the male's likelihood to obtain paternity at the 2(nd annual breeding attempt of his female mate in case she deserts their brood to produce a second brood with a different male. Using molecular paternity analyses we found that 2 out of 26 (8% second annual broods of deserting females contained in total 6 extra-pair young out of 15 nestlings. These young were all sired by the male with whom the female had produced the 1(st annual brood. In contrast, none of the 49 1(st annual breeding attempts (219 offspring and of the 20 2(nd annual breeding attempts (93 offspring of non-deserting females contained extra-pair young. We suggest that female desertion can select male counter-strategies to increase paternity and hence individual fitness. Alternatively, females may copulate with the 1(st male to derive genetic benefits, since he is usually of higher quality than the 2(nd male which is commonly a yearling individual.

  9. The association between paternal and adolescent depressive symptoms: evidence from two population-based cohorts.

    Lewis, Gemma; Neary, Martha; Polek, Ela; Flouri, Eirini; Lewis, Glyn

    2017-12-01

    Incidence of depression increases markedly around age 13 years, and nearly three-quarters of adults report that their mental health problems started in adolescence. Although maternal depression is a risk factor for adolescent depression, evidence about the association between paternal and adolescent depression is inconclusive, and many studies have methodological limitations. We aimed to assess the association between paternal and adolescent depressive symptoms in two large population-based cohort studies. We used data for two-parent families from two representative prospective cohorts in Ireland (Growing up in Ireland [GUI]) and the UK (Millennium Cohort Study [MCS]). Parental depressive symptoms were measured with the Centre for Epidemiological Studies Depression Scale in the GUI cohort when children were 9 years old, and the Kessler six-item psychological distress scale in the MCS cohort when children were 7 years old. Adolescent depressive symptoms were measured with the Short Mood and Feelings Questionnaire (SMFQ) at age 13 years in the GUI cohort and age 14 years in the MCS cohort. We analysed data using linear regression models, before and after adjustment for confounders, in both multiply imputed and complete case samples. There were 6070 families in GUI and 7768 in MCS. After all adjustments, a 1 SD (three-point) increase in paternal depressive symptoms was associated with an increase of 0·24 SMFQ points (95% CI 0·03-0·45; p=0·023) in the GUI cohort and 0·18 SMFQ points (0·01-0·36; p=0·041) in the MCS cohort. This association was independent of, and not different in magnitude to, the association between maternal and adolescent depressive symptoms (Wald test p=0·435 in the GUI cohort and 0·470 in the MCS cohort). Our results show an association between depressive symptoms in fathers and depressive symptoms in their adolescent offspring. These findings support the involvement of fathers as well as mothers in early interventions to reduce the

  10. Effects of low dose rate irradiation on life span prolongation of human premature-aging syndrome model mice

    Nomura, Takaharu

    2006-01-01

    We previously showed that Type II diabetes model mice prolonged of their life span by life long low dose rate irradiation. We also found that antioxidant function in variety tissues of some strain of mice were enhancement after low dose/low dose rate irradiation. The prolongation of life span might depend on certain damaged level of reactive oxygen species. We thought the effect of the prolongation was due to the enhancement of the antioxidant activities after irradiation. We investigated whether the enhancement of antioxidant activities after low dose rate irradiation had an effect on life span prolongation. Four-week-old female human premature-aging syndrome model mice, kl/kl (klotho) mice, which the life span of this model mouse is about 65 days, were irradiated with gamma rays at 0.35, 0.70 or 1.2 mGy/hr. The 0.70 mGy/hr-irradiated group remarkably effected on the prolongation of their life span. Some mice of the group were extremely survived for about and more 100 days. Antioxidant activities in the irradiated groups were enhancement by low dose rate irradiation, however the dependence of the dose rates were not clearly difference. These results suggest that the antioxidant activities in this model mouse were enhanced by the low dose rate irradiation, and may make it possible to prolong the life span of this mouse. (author)

  11. Children with Down Syndrome: oral development and morphology after use of palatal plates between 6 and 18 months of age.

    Bäckman, B; Grevér-Sjölander, A-C; Holm, A-K; Johansson, I

    2003-09-01

    The aim of this study was to describe oral development and morphology in 18-month-old children with Down syndrome (DS) treated with palatal plates in combination with structured communication and speech training. The aim is further to describe the design of the palatal plates, compliance in their use and to give a brief report of their effect on oral motor function and speech. Forty-two children with DS were followed from language intervention, and oral motor and sensory stimulation provided by speech therapists for all children with DS in Sweden, palatal plates provided by dentists are included in the training programme. In the evaluation, the children in the project were compared with two control groups of children matched for age; one group of children with DS who had not been treated with palatal plates, and one group of children with normal development. Compared to the children with normal development, both groups of children with DS had fewer teeth erupted and a lower prevalence of sucking habits. Deviant morphology of the tongue in the form of diastase, lingua plicata or a sulcus in the anterior third of the tongue was only seen in children with DS. All children with normal development had positive values for overjet compared to 53% of the children with DS. The palatal plates were used 2-3 times daily for a total mean time of 15 min. Compliance in use of the plates decreased with age, mainly due to eruption of teeth and subsequent loss of retention. Evaluation of oral motor function and speech show that the children with DS in the project had better motor prerequisites for articulation than the control children with DS. Palatal plate therapy did not affect oral parameters, i.e., eruption of teeth, types and prevalence of sucking habits, tongue morphology and symptoms of hypotonia. In combination with oral motor and sensory stimulation, palatal plate therapy had a positive effect on oral motor performance and prerequisites for articulation.

  12. Carotid intima-media thickness in mainly non-obese women with polycystic ovary syndrome and age-matched controls.

    Kim, Jin Ju; Choi, Young Min; Kang, Jin Hwa; Hwang, Kyu Ri; Chae, Soo Jin; Kim, Sun Mie; Ku, Seung Yup; Kim, Seok Hyun; Kim, Jung Gu; Moon, Shin Yong

    2013-07-01

    Metabolic disturbances are well-recognized clinical features of polycystic ovary syndrome (PCOS). Carotid intima-media thickness (CIMT) has been widely used as a surrogate marker of atherosclerosis and cardiovascular disease (CVD). CIMT in women with PCOS has been investigated in many studies, but there has been only one report in the Korean population. The aim of the present study was to compare the presence of subclinical atherosclerosis in young untreated Korean women with PCOS and age-matched controls, specifically by measuring their CIMT. CIMT was measured by one radiologist in 56 PCOS patients and 56 controls. To compare the CIMT according to PCOS phenotypes, women with PCOS were divided into two subgroups according to the presence of hyperandrogenism. Although PCOS patients were more obese and had higher blood pressure and insulin resistance index than the age-matched controls, the CIMT was not different between the two groups (0.49 ± 0.09 mm in PCOS patients vs. 0.50 ± 0.11 mm in controls, respectively, p = 0.562). When the CIMT in the control group was compared with hyperandrogenic and non-hyperandrogenic PCOS groups, also no significant differences were found. Despite the significant differences in some vascular risk factors between women with PCOS and controls, PCOS patients did not have a significantly higher CIMT (even in the hyperandrogenic subgroups). Although our study did not show the increased risk of subclinical atherosclerosis in PCOS patients, the role of CIMT continues to be investigated considering the importance of screening and monitoring CVD risk factors in women with PCOS.

  13. Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.

    Linglart, A; Cabrol, S; Berlier, P; Stuckens, C; Wagner, K; de Kerdanet, M; Limoni, C; Carel, J-C; Chaussain, J-L

    2011-06-01

    Adult height deficit seen in Turner syndrome (TS) originates, in part, from growth retardation in utero and throughout the first 3 years of life. Earlier diagnosis enables earlier therapeutic intervention, such as with recombinant human GH (r-hGH), which may help to prevent growth retardation. In this open-label, multicentre phase III study, we investigated efficacy and safety in r-hGH treatment in young girls with TS. Girls (n=61) aged <4 years with TS receiving 0.035-0.05 mg/kg per day r-hGH for 4 years were compared with an historical control group (n=51) comprising untreated, age- and height-matched girls with TS. The main outcome measure was change in height SDS (H-SDS). Other measures included changes in height velocity SDS, IGF1 levels and glucose metabolism. After 4 years, a gain in mean H-SDS of 1.0 SDS (from -2.33±0.73 to -1.35±0.86 SDS) was observed with r-hGH treatment, in contrast to the decrease in mean H-SDS of 0.3 SDS in the control group (from -2.09±0.81 to -2.44±0.73 SDS; P<0.0001). r-hGH treatment was the main predictor of H-SDS gain and accounted for 52% of variability (multivariate analysis). r-hGH was well tolerated. As expected, IGF1 levels rose with treatment. A case of transient glucose intolerance resolved after dietary adaptation. Early treatment with r-hGH helps to prevent natural evolution towards short stature in most girls with TS. IGF1 levels and glucose metabolism should be monitored routinely during r-hGH therapy.

  14. Prevalence of cardiovascular risk factors and the metabolic syndrome in middle-aged men and women in Gothenburg, Sweden

    Johansson Saga

    2008-12-01

    Full Text Available Abstract Background Random samples of 50-year-old men living in Gothenburg have been examined every 10th year since 1963 with a focus on cardiovascular risk factors. The aims of the study were to acquire up-to-date information about risk factors in the fifth cohort of 50-year-old men and women, to re-examine those who were 50 years of age in 1993, and to analyse the prevalence of the metabolic syndrome (MetSyn using different definitions. Methods A random sample of men and women born in 1953 were examined in 2003–2004 for cardiovascular risk factors. Men born in 1943 and that participated in the examination in 1993 were also invited. Descriptive statistics were calculated. Results The participation rate among men and women born in 1953 was 60 and 67% respectively. Among men born in 1943, the participation rate was 87%. The prevalence of obesity was from 15 to 17% (body mass index, BMI ≥ 30 in the three samples. The prevalence of known diabetes was 4% among the 50-year-old men and 6% among the 60-year-old men, and 2% among the women. Increased fasting plasma glucose varied substantially from 4 to 33% depending on cut-off level and gender. Mean cholesterol was 5.4 to 5.5 mmol/l. Smoking was more common among women aged 50 (26% than among men aged 50 (22% and 60 years (15%. The prevalence of the MetSyn varied with the definition used: from 10 to 15.8% among the women, from 16.1 to 26% among 50-year-old men, and from 19.9 to 35% among the 60-year-old men. Only 5% of the men and women had no risk factors. Conclusion This study provides up-to-date information about the prevalence of cardiovascular risk factors and the MetSyn in middle-aged Swedish men and women. Different definitions of the MetSyn create confusion regarding which definition to use.

  15. Stronger influence of maternal than paternal obesity on infant and early childhood body mass index: the Fels Longitudinal Study.

    Linabery, A M; Nahhas, R W; Johnson, W; Choh, A C; Towne, B; Odegaard, A O; Czerwinski, S A; Demerath, E W

    2013-06-01

    Excessive early childhood adiposity is a prevalent and increasing concern in many parts of the world. Parental obesity is one of the several factors previously associated with infant and early childhood weight, length and adiposity. Parental obesity represents a surrogate marker of the complex interplay among genetic, epigenetic and shared environmental factors, and is potentially modifiable. The relative contributions of maternal and paternal body mass index (BMI) to infant and early childhood growth, as well as the timing of such effects, have not been firmly established. Utilizing serial infant measurements and growth curve modelling, this is the largest study to fully characterize and formally compare associations between maternal and paternal BMI and offspring growth across the entire infancy and early childhood period. Maternal obesity is a stronger determinant of offspring BMI than paternal obesity at birth and from 2 to 3 years of age, suggesting that prevention efforts focused particularly on maternal lifestyle and BMI may be important in reducing excess infant BMI. The observation that maternal BMI effects are not constant, but rather present at birth, wane and re-emerge during late infancy, suggests that there is a window of opportunity in early infancy when targeted interventions on children of obese mothers may be most effective. Parental obesity influences infant body size. To fully characterize their relative effects on infant adiposity, associations between maternal and paternal body mass index (BMI) category (normal: ≤25 kg m(-2) , overweight: 25 - obese: ≥30 kg m(-2) ) and infant BMI were compared in Fels Longitudinal Study participants. A median of 9 serial weight and length measures from birth to 3.5 years were obtained from 912 European American children born in 1928-2008. Using multivariable mixed effects regression, contributions of maternal vs. paternal BMI status to infant BMI growth curves were evaluated. Cubic spline models

  16. Aging

    Sasaki, Hideo; Kodama, Kazunori; Yamada, Michiko

    1991-01-01

    The hypothesis that exposure to ionizing radiation accelerates the aging process has been actively investigated at ABCC-RERF since 1958, when longitudinal cohort studies of the Adult Health Study (AHS) and the Life Span Study (LSS) were initiated. In their 1975 overall review of aging studies related to the atomic bomb (A-bomb) survivors, Finch and Beebe concluded that while most studies had shown no correlation between aging and radiation exposure, they had not involved the large numbers of subjects required to provide strong evidence for or against the hypothesis. Extending LSS mortality data up to 1978 did not alter the earlier conclusion that any observed life-shortening was associated primarily with cancer induction rather than with any nonspecific cause. The results of aging studies conducted during the intervening 15 years using data from the same populations are reviewed in the present paper. Using clinical, epidemiological, and laboratory techniques, a broad spectrum of aging parameters have been studied, such as postmortem morphological changes, tests of functional capacity, physical tests and measurements, laboratory tests, tissue changes, and morbidity. With respect to the aging process, the overall results have not been consistent and are generally thought to show no relation to radiation exposure. Although some preliminary results suggest a possible radiation-induced increase in atherosclerotic diseases and acceleration of aging in the T-cell-related immune system, further study is necessary to confirm these findings. In the future, applying the latest gerontological study techniques to data collected from subjects exposed 45 years ago to A-bomb radiation at relatively young ages will present a new body of data relevant to the study of late radiation effects. (author) 103 refs

  17. Aging

    Finch, S.C.; Beebe, G.W.

    1975-01-01

    The hypothesis that ionizing radiation accelerates natural aging has been under investigation at the Atomic Bomb Casualty Commission since 1959. Postmortem observations of morphologic and chemical changes, tests of functional capacity, physical tests and measurements, clinical laboratory tests, tissue changes, morbidity, and mortality have all been examined by ABCC investigators interested in this hypothesis. These studies have been beset with conceptual difficulties centered on the definition and measurement of aging. An empirical approach early led to the calculation of an index of physiologic age as a linear combination of age-related tests of various organ systems. Most studies have been negative but have not involved the large numbers that might be required to provide strong evidence for or against the hypothesis. Mortality, however, has been examined on the basis of a large sample and over the period 1950-1972 had provided no support for the hypothesis of radiation-accelerated aging. Ionizing radiation dose, of course shorten human life, but its life-shortening effect appears to be the result of specific radiation-induced disease, especially neoplasms. The hypothesis is now much less attractive than it was 10-20 years ago but still has some value in stimulating research on aging. The experience of the A-bomb survivors provides an unusual opportunity for a definitive test of the hypothesis. (auth.)

  18. Paternal uniparental isodisomy of chromosome 11p15.5 within the pancreas causes isolated hyperinsulinaemic hypoglycaemia

    Sarah E Flanagan

    2011-11-01

    Full Text Available BackgroundLoss of function mutations in the genes encoding the pancreatic β-cell ATP-sensitive potassium (KATP channel are identified in approximately 80% of patients with diazoxide-unresponsive hyperinsulinaemic-hypoglycaemia (HH. For a small number of patients HH can occur as part of a multisystem disease such as Beckwith-Wiedemann syndrome (BWS. In approximately 20% of patients, BWS results from chromosome 11 paternal uniparental disomy (UPD, which causes dysregulation of imprinted growth regulation genes at 11p15.5. There is a considerable range in the clinical features and phenotypic severity associated with BWS which is likely to be due to somatic mosaicism. The cause of HH in these patients is not known.Research Design and methodsWe undertook microsatellite analysis of 12 markers spanning chromosome 11p in two patients with severe HH and diffuse disease requiring a pancreatectomy. In both patients mutations in the KATP channel genes had not been identified. ResultsWe identified segmental paternal UPD in DNA extracted from pancreatic tissue in both patients. UPD was not observed in DNA extracted from the patient’s leukocytes or buccal samples. In both cases the UPD encompassed the differentially methylated region at chromosome 11p15.5. Despite this neither patient had any further features of BWS.ConclusionsPaternal UPD of the chromosome 11p15.5 differentially methylated region limited to the pancreatic tissue may represent a novel cause of isolated diazoxide unresponsive HH. Loss of heterozygosity studies should therefore be considered in all patients with severe HH who have undergone pancreatic surgery when KATP channel mutation(s have not been identified.

  19. Age at postnatal diagnosis of Down syndrome in the northern Netherlands for the period 1981-2000

    Heuterman, JSJ; de Walle, HEK; Poortvliet, MC; Bouman, K; Cornel, MC

    2004-01-01

    Background. In live-born children with Down syndrome it may be very difficult for the clinician or midwife assisting at the delivery to recognise Down syndrome in newborn babies due to varying physical appearances. Meanwhile more and more therapeutical interventions become available that should

  20. Effects of 6-month aerobic interval training on skeletal muscle metabolism in middle-aged metabolic syndrome patients

    Guadalupe-Grau, A; Fernández-Elías, V E; Ortega, J F

    2018-01-01

    Aerobic interval training (AIT) improves the health of metabolic syndrome patients (MetS) more than moderate intensity continuous training. However, AIT has not been shown to reverse all metabolic syndrome risk factors, possibly due to the limited duration of the training programs. Thus, we...

  1. PREVALENCE OF OVERWEIGHT, OBESITY, PAEDIATRIC METABOLIC SYNDROME AND ASSOCIATED RISK FACTORS AMONG CHILDREN IN THE AGE GROUP OF 10-16 YEARS IN PRIVATE SCHOOLS OF SHIMLA CITY

    Anmol Gupta

    2017-07-01

    Full Text Available BACKGROUND Paediatric obesity is a complex and growing global problem which is escalating much more rapidly in developing countries like India and considered an important predecessor to NCD multi-morbidity due to changing life style as a result of rapid urbanisation and mechanisation. The aim of this study was to estimate the prevalence of overweight, obesity, paediatric metabolic syndrome and associated risk factors among children in the age group of 10-16 years in private schools of Shimla city. MATERIALS AND METHODS At total of 2100 adolescents attending school (aged 10-16 years participated in this cross-sectional study. All the anthropometric, clinical and biochemical assessment was done after proper consent. Prevalence of overweight and obesity was assessed by using IOTF guidelines and the metabolic syndrome was determined by the Paediatric International Diabetic Federation definition modified for age group. RESULTS The prevalence of overweight, obesity and paediatric metabolic syndrome was 14.5%, 4.1% & 4.3% respectively. In the groups with PMS, hypertension, waist circumference, and TG were significantly higher, and HDL-C was significantly lower. Significant difference was observed in gender, physical activity level, metabolic equivalent, consumption of junk food & time spent on TV in the distribution of overweight, obesity and metabolic syndrome. CONCLUSION Our study highlights the possible role of change in the dietary pattern and physical activity pattern in the development of obesity and metabolic syndrome in early stage of life. Collective efforts of parents and schools are required to institute early preventive measures to reduce progression towards obesity and its future complications.

  2. Alport Syndrome

    ... signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, ... prevention and treatment of kidney disease. The Better Business Bureau Wise Giving Alliance Charity Seal provides the ...

  3. Paternal identity impacts embryonic development for two species of freshwater fish

    Siddique, Mohammad Abdul Momin; Linhart, Otomar; Krejszeff, Sławomir

    2017-01-01

    then partition variation in embryonic phenotypic performance to maternal, paternal, and parental interactions using the Restricted Maximum Likelihood (REML) model. Results showed that paternal, maternal, and the paternal. ×. maternal interaction terms were highly significant for both species; clearly......Paternal, compared to maternal, contributions were believed to have only a limited influence on embryonic development and larval fitness traits in fishes. Therefore, the perspective of male influence on early life history traits has come under scrutiny. This study was conducted to determine...... demonstrating that certain family combinations were more compatible than others. Paternal effects explained 20.24% of the total variance, which was 2-fold higher than the maternal effects (10.73%) in Ide, while paternal effects explained 18.9% of the total variance, which was 15-fold higher than the maternal...

  4. Different Implications of Paternal and Maternal Atopy for Perinatal IgE Production and Asthma Development

    Wu, Chih-Chiang; Chen, Rong-Fu; Kuo, Ho-Chang

    2012-01-01

    Asthma is a hereditary disease associated with IgE-mediated reaction. Whether maternal atopy and paternal atopy have different impacts on perinatal IgE production and asthma development remains unclear. This paper reviews and summarizes the effects of maternal and paternal atopy on the developmental aspects of IgE production and asthma. Maternal atopy affects both pre- and postnatal IgE production, whereas paternal atopy mainly affects the latter. Maternally transmitted genes GSTP1 and FceRI-...

  5. Effect of Swarna Jibanti (Coelogyne cristata Lindley) in alleviation of chronic fatigue syndrome in aged Wistar rats.

    Mitra, Achintya; Sur, Tapas Kumar; Upadhyay, Sachhidananda; Bhattacharyya, Dipankar; Hazra, Jayram

    2017-11-01

    Swarna Jibanti scientifically known as Coelogyne cristata Lindley (Orchidaceae), an orchid mentioned in Ayurvedic medicine is used to promote healthy life span. The present work was planned to study the efficacy of hydro-alcoholic extract of pseudobulbs of C.cristata (CCE) to assess its role on chronic fatigue syndrome (CFS) induced behavioural and biochemical changes in aged Wistar rats compared to Panax ginseng (PG), a prototype anti-stress agent. CFS was induced by forced swimming for consecutive 21 days for fixed duration (15 min sessions). The criteria of CFS due to fatigue were counted using locomotor activity, depression and anxiety through automated photactometer, immobility time and plus maze activity respectively. Acute toxicity study of CCE (upto 2 g/kg, Limit test) was also performed. For CFS, animals were divided into five groups, naive control, control, CCE treated (25 mg/kg b.w., 250 mg/kg b.w.) and standard PG treated (100 mg/kg b.w.) groups. All drugs were given orally for consecutive 21 days along with CFS. After assessing behavioural parameters, all animals were sacrificed at day 21 and in vivo antioxidant potential of CCE was determined by lipid peroxides, nitrite, catalase (CAT) and superoxide dismutase (SOD) in brain tissue. CCE was found to be non-toxic. CCE treated aged rats significantly improved (p < 0.001) the spontaneous locomotor movement with respect to control rats, while, decreased the mobility period or depression score. In CFS, CCE also enhanced the time spent (p < 0.001) in open arms while reducing the time spent in closed arm as compared to CFS control, indicating lowering anxiety score. Moreover, marked diminution in lipid peroxidation, nitrite and SOD level was exhibited after CCE treatment and significantly enhanced catalase level significantly (p < 0.01) with respect to CFS control. PG also showed similar actions. The results confirmed the potential therapeutic actions of CCE against experimentally induced CFS in

  6. Different physical activity subtypes and risk of metabolic syndrome in middle-aged and older Chinese people.

    Mu Chen

    Full Text Available BACKGROUND: The prevalence of metabolic syndrome (MetS is growing rapidly in China. Tai chi and dancing are common types of exercise among middle-aged and elderly Chinese. It remains unclear whether these activities are associated with a lower risk of MetS. METHODOLOGY/PRINCIPAL FINDINGS: A total of 15,514 individuals (6,952 men, 8,562 women aged 50 to 70 years from the Dongfeng-Tongji Cohort in Shiyan, China participated in a cross-sectional study. Physical activity and other lifestyle factors were assessed with semi-structured questionnaires during face-to-face interviews. MetS was defined by the current National Cholesterol Education Program/Adult treatment Panel III criteria for Asian Americans. The prevalence of MetS was 33.2% in the study population. In the multivariable-adjusted logistic regression analyses, total physical activity levels were monotonically associated with a lower odds of MetS [OR 0.75 comparing extreme quintiles, 95% confidence interval (CI 0.66-0.86, P<0.001]. Compared with non-exercisers in a specific exercise type, jogging (OR 0.82, 95% CI 0.68-1.00, P = 0.046, tai chi (OR 0.72, 95% CI 0.60-0.88, P<0.001, and dancing (OR 0.56, 95% CI 0.47-0.67, P<0.001 were associated with significantly lower odds of MetS. Furthermore, each 1-h/week increment in tai chi and dancing was associated with a 5% (95% CI 2%-9% and a 9% (95% CI 6%, 12% lower risk of MetS. CONCLUSIONS/SIGNIFICANCE: Jogging, tai chi and dancing are associated with a significantly lower risk of having MetS in middle-aged and older Chinese. Future intervention studies should consider the role of jogging, tai chi and dancing in preventing MetS.

  7. Adolescent males' orientation toward paternity and contraception.

    Marsiglio, W

    1993-01-01

    Data from a nationally representative sample of 1,880 young men aged 15-19 reveal that neighborhood quality, parental education, race or ethnicity, and attitudes about male gender roles are related to young men's attitudes toward an unplanned pregnancy and to their contraceptive experiences. Young men who live in poor neighborhoods are more likely to be pleased about an unplanned pregnancy than those who have better living conditions (12% vs. 2%) and are also more likely to view impregnating a woman as enhancing their masculinity (8% vs. 3%). Among men with average living conditions, 12% of black adolescents view fathering a child as enhancing their masculinity, compared with 6% of white adolescents; among those with very good living conditions, these proportions were 10% and 2%, respectively. Young men whose parents had less education and those who held traditional male gender role attitudes were also more likely than their counterparts to view fathering a child as enhancing their masculinity. Regarding contraceptive behavior, sexually active black men and Hispanic men were more likely than white men to have discussed contraception with their last partner; black men were more likely to have used an effective contraceptive method the last time they had intercourse; and black men were more likely to have used a condom at last intercourse. However, young men who were aware that they had been responsible for a previous pregnancy were less likely than those who reported no pregnancies to have used an effective contraceptive the last time they had intercourse. These same young men were also more likely to report that fathering a child would please them and enhance their masculinity.

  8. Consistent paternity skew through ontogeny in Peron's tree frog (Litoria peronii.

    Craig D H Sherman

    Full Text Available BACKGROUND: A large number of studies in postcopulatory sexual selection use paternity success as a proxy for fertilization success. However, selective mortality during embryonic development can lead to skews in paternity in situations of polyandry and sperm competition. Thus, when assessment of paternity fails to incorporate mortality skews during early ontogeny, this may interfere with correct interpretation of results and subsequent evolutionary inference. In a previous series of in vitro sperm competition experiments with amphibians (Litoria peronii, we showed skewed paternity patterns towards males more genetically similar to the female. METHODOLOGY/PRINCIPAL FINDINGS: Here we use in vitro fertilizations and sperm competition trials to test if this pattern of paternity of fully developed tadpoles reflects patterns of paternity at fertilization and if paternity skews changes during embryonic development. We show that there is no selective mortality through ontogeny and that patterns of paternity of hatched tadpoles reflects success of competing males in sperm competition at fertilization. CONCLUSIONS/SIGNIFICANCE: While this study shows that previous inferences of fertilization success from paternity data are valid for this species, rigorous testing of these assumptions is required to ensure that differential embryonic mortality does not confound estimations of true fertilization success.

  9. How consistent are associations between maternal and paternal education and child growth and development outcomes across 39 low-income and middle-income countries?

    Jeong, Joshua; Kim, Rockli; Subramanian, S V

    2018-05-01

    Maternal and paternal education are associated with improved early child outcomes. However, less is known about how these relative associations compare for preschool children's growth versus development outcomes; and across country contexts. We analysed data from 89 663 children aged 36 to 59 months in 39 low-income and middle-income countries (LMICs). We used linear regression models with country fixed effects to estimate the joint associations between maternal and paternal education and children's growth and development outcomes. Additionally, we examined the variability in these relationships by each country and within subgroups of countries. In the pooled sample, maternal and paternal education were independently associated with 0.37 (95% CI 0.33 to 0.41) and 0.20 (95% CI 0.16 to 0.24) higher height-for-age z-scores, and 0.31 (95% CI 0.29 to 0.34) and 0.16 (95% CI 0.14 to 0.18) higher Early Childhood Development Index z-scores, respectively (comparing secondary or higher to no education). Associations were stronger for maternal education than paternal education but comparable between child outcomes. In country-specific regressions, we found the most heterogeneity in the associations between maternal education and children's growth; and between paternal education and children's development. Subgroup analyses suggested that these associations may be systematically patterned by country-level adult illiteracy, infant mortality and food insecurity. Our findings highlight variability in the statistical significance and magnitude of the associations between caregivers' education and children's outcomes. Further research is needed to understand the sources of variation that may promote or constrain the benefits of caregivers' education for children's early health and development in LMICs. © 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

  10. MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

    Talseth-Palmer, Bente A; McPhillips, Mary; Groombridge, Claire; Spigelman, Allan; Scott, Rodney J

    2010-05-21

    Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutations in MSH6 as in families with mutations in MLH1/MSH2 but that the disease tends to occur later in life, little is known about families with PMS2 mutations. This study reports on our findings on mutation type, cancer risk and age of diagnosis in MSH6 and PMS2 families. A total of 78 participants (from 29 families) with a mutation in MSH6 and 7 participants (from 6 families) with a mutation in PMS2 were included in the current study. A database of de-identified patient information was analysed to extract all relevant information such as mutation type, cancer incidence, age of diagnosis and cancer type in this Lynch syndrome cohort. Cumulative lifetime risk was calculated utilising Kaplan-Meier survival analysis. MSH6 and PMS2 mutations represent 10.3% and 1.9%, respectively, of the pathogenic mutations in our Australian Lynch syndrome families. We identified 26 different MSH6 and 4 different PMS2 mutations in the 35 families studied. We report 15 novel MSH6 and 1 novel PMS2 mutations. The estimated cumulative risk of CRC at age 70 years was 61% (similar in males and females) and 65% for endometrial cancer in MSH6 mutation carriers. The risk of developing CRC is different between males and females at age 50 years, which is 34% for males and 21% for females. Novel MSH6 and PMS2 mutations are being reported and submitted to the current databases for identified Lynch syndrome mutations. Our data provides additional information to add to the genotype-phenotype spectrum for both MSH6 and PMS2 mutations.

  11. MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer

    Talseth-Palmer Bente A

    2010-05-01

    Full Text Available Abstract Background Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutations in MSH6 as in families with mutations in MLH1/MSH2 but that the disease tends to occur later in life, little is known about families with PMS2 mutations. This study reports on our findings on mutation type, cancer risk and age of diagnosis in MSH6 and PMS2 families. Methods A total of 78 participants (from 29 families with a mutation in MSH6 and 7 participants (from 6 families with a mutation in PMS2 were included in the current study. A database of de-identified patient information was analysed to extract all relevant information such as mutation type, cancer incidence, age of diagnosis and cancer type in this Lynch syndrome cohort. Cumulative lifetime risk was calculated utilising Kaplan-Meier survival analysis. Results MSH6 and PMS2 mutations represent 10.3% and 1.9%, respectively, of the pathogenic mutations in our Australian Lynch syndrome families. We identified 26 different MSH6 and 4 different PMS2 mutations in the 35 families studied. We report 15 novel MSH6 and 1 novel PMS2 mutations. The estimated cumulative risk of CRC at age 70 years was 61% (similar in males and females and 65% for endometrial cancer in MSH6 mutation carriers. The risk of developing CRC is different between males and females at age 50 years, which is 34% for males and 21% for females. Conclusion Novel MSH6 and PMS2 mutations are being reported and submitted to the current databases for identified Lynch syndrome mutations. Our data provides additional information to add to the genotype-phenotype spectrum for both MSH6 and PMS2 mutations.

  12. Is there an independent effect of polycystic ovary syndrome (PCOS) and menopause on the prevalence of subclinical atherosclerosis in middle aged women?

    Evelyn O Talbott; Jeanne Zborowski; Judy Rager; Juley R Stragand

    2008-01-01

    Evelyn O Talbott, Jeanne Zborowski, Judy Rager, Juley R StragandDepartment of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USAAbstract: Polycystic ovary syndrome (PCOS), a common reproductive endocrine condition manifests at puberty, and is characterized by hyperandrogenism, chronic anovulation, and obesity. PCOS cases exhibit an adverse coronary heart disease (CHD) profile at an early age, including insulin resistance, dyslipidemia and increased c...

  13. Association of paternal IQ in early adulthood with offspring mortality and hospital admissions for injuries: a cohort study of 503 492 Swedish children.

    Jelenkovic, Aline; Silventoinen, Karri; Tynelius, Per; Rasmussen, Finn

    2014-07-01

    Higher intelligence (IQ) has been related to a lower risk of mortality and hospital admissions for injuries, but little is known about the effect of parental IQ on offspring outcomes. We explored associations of paternal IQ with mortality and hospitalisations for injuries from all external causes in offspring. A cohort of 503 492 Swedish children under 5 years of age with information on paternal IQ was obtained by record linkage of national registers. HR with 95% CIs were estimated using Cox regression. There was some evidence that paternal IQ was inversely associated with total and external-cause mortality in offspring, although the effects were modest and disappeared when controlling for parents' socioeconomic position (SEP). The only robust gradient was found between paternal IQ and hospital admissions for injuries (HRper 1-SD increase in IQ 0.93, 95% CI 0.92 to 0.94; pIQ may have an increased risk of injury by external causes. Messages on family safety and injury prevention might be tailored according to parental cognitive abilities. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  14. What difference can fathers make? Early paternal absence compromises Peruvian children's growth.

    Dearden, Kirk; Crookston, Benjamin; Madanat, Hala; West, Joshua; Penny, Mary; Cueto, Santiago

    2013-01-01

    Considerable evidence suggests that fathers' absence from home has a negative short- and long-term impact on children's health, psychosocial development, cognition and educational experience. We assessed the impact of father presence during infancy and childhood on children's height-for-age z-score (HAZ) at 5 years old. We conducted secondary data analysis from a 15-year cohort study (Young Lives) focusing on one of four Young Lives countries (Peru, n = 1821). When compared with children who saw their fathers on a daily or weekly basis during infancy and childhood, children who did not see their fathers regularly at either period had significantly lower HAZ scores (-0.23, P = 0.0094) after adjusting for maternal age, wealth and other contextual factors. Results also suggest that children who saw their fathers during childhood (but not infancy) had better HAZ scores than children who saw their fathers in infancy and childhood (0.23 z-score, P = 0.0388). Findings from analyses of resilient children (those who did not see their fathers at either round but whose HAZ > -2) show that a child's chances of not being stunted in spite of paternal absence at 1 and 5 years old were considerably greater if he or she lived in an urban area [odds ratio (OR) = 9.3], was from the wealthiest quintile (OR = 8.7) and lived in a food secure environment (OR = 3.8). Interventions designed to reduce malnutrition must be based on a fuller understanding of how paternal absence puts children at risk of growth failure. © 2011 Blackwell Publishing Ltd.

  15. High frequency of extra-pair paternity in an urban population of Cooper's Hawks

    Rosenfield, Robert N.; Sonsthagen, Sarah A.; Stout, William C.; Talbot, Sandra L.

    2015-01-01

    Raptors exhibit some of the highest rates of intra-pair copulations among birds, perhaps in an attempt by males to reduce the risk of being cuckolded. Indeed, the frequency of extra-pair fertilizations reported in studies of raptors to date is relatively low (0-11.2%). Socially monogamous Cooper's Hawks (Accipiter cooperii) exhibit one of the highest copulation rates among birds, yet there are no published accounts of extra-pair copulations (or paternity). We studied a population of Cooper's Hawks in Milwaukee, Wisconsin, during three breeding seasons (2003, 2004, and 2007), examining the possible effects of age (1 yr old vs. ≥ 2 yr old), adult mass, and brood size on the frequency of extra-pair paternity (EPP). We found that 19.3% of nestlings (N = 27/140) were extra-pair young (EPY), and 34% of all broods (N = 15/44) had at least one EPY. The sires of the EPY in our study were identified for only two broods, suggesting that floater males may have engaged in extra-pair copulations with territorial females. We found that brood size was a good predictor of the occurrence of EPP (EPP) in nests, but adult mass and female age were not. To our knowledge, these possible correlates of the occurrence of EPP in raptors had not previously been investigated. Male Cooper's Hawks provide food for females during the pre-nesting period, and delivery of food is, in contrast to other raptor species, typically followed by copulation. Thus, one possible explanation of the relatively high rates of EPP in our study is that females might accept or even solicit extra-pair copulations from males other than their mates as a means of maximizing energy intake for egg production. Such behavior might be particularly likely in our study area, i.e., a food-rich urban setting with a high breeding density of Cooper's Hawks.

  16. Relation of EEG alpha background to cognitive fuction, brain atrophy, and cerebral metabolism in Down's syndrome. Age-specific changes

    Devinsky, O.; Sato, S.; Conwit, R.A.; Schapiro, M.B.

    1990-01-01

    We studied 19 young adults (19 to 37 years old) and 9 older patients (42 to 66 years old) with Down's syndrome (DS) and a control group of 13 healthy adults (22 to 38 years old) to investigate the relation of electroencephalographic (EEG) alpha background to cognitive function and cerebral metabolism. Four of the older patients with DS had a history of mental deterioration, disorientation, and memory loss and were demented. Patients and control subjects had EEGs, psychometric testing, quantitative computed tomography, and positron emission tomography with fludeoxyglucose F 18. A blinded reader classified the EEGs into two groups--those with normal alpha background or those with abnormal background. All the control subjects, the 13 young adult patients with DS, and the 5 older patients with DS had normal EEG backgrounds. In comparison with the age-matched patients with DS with normal alpha background, older patients with DS with decreased alpha background had dementia, fewer visuospatial skills, decreased attention span, larger third ventricles, and a global decrease in cerebral glucose utilization with parietal hypometabolism. In the young patients with DS, the EEG background did not correlate with psychometric or positron emission tomographic findings, but the third ventricles were significantly larger in those with abnormal EEG background. The young patients with DS, with or without normal EEG background, had positron emission tomographic findings similar to those of the control subjects. The mechanism underlying the abnormal EEG background may be the neuropathologic changes of Alzheimer's disease in older patients with DS and may be cerebral immaturity in younger patients with DS

  17. Child gender influences paternal behavior, language, and brain function.

    Mascaro, Jennifer S; Rentscher, Kelly E; Hackett, Patrick D; Mehl, Matthias R; Rilling, James K

    2017-06-01

    Multiple lines of research indicate that fathers often treat boys and girls differently in ways that impact child outcomes. The complex picture that has emerged, however, is obscured by methodological challenges inherent to the study of parental caregiving, and no studies to date have examined the possibility that gender differences in observed real-world paternal behavior are related to differential paternal brain responses to male and female children. Here we compare fathers of daughters and fathers of sons in terms of naturalistically observed everyday caregiving behavior and neural responses to child picture stimuli. Compared with fathers of sons, fathers of daughters were more attentively engaged with their daughters, sang more to their daughters, used more analytical language and language related to sadness and the body with their daughters, and had a stronger neural response to their daughter's happy facial expressions in areas of the brain important for reward and emotion regulation (medial and lateral orbitofrontal cortex [OFC]). In contrast, fathers of sons engaged in more rough and tumble play (RTP), used more achievement language with their sons, and had a stronger neural response to their son's neutral facial expressions in the medial OFC (mOFC). Whereas the mOFC response to happy faces was negatively related to RTP, the mOFC response to neutral faces was positively related to RTP, specifically for fathers of boys. These results indicate that real-world paternal behavior and brain function differ as a function of child gender. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  18. Securing Paternity by Mutilating Female Genitalia in Spiders.

    Mouginot, Pierick; Prügel, Josepha; Thom, Ulrike; Steinhoff, Philip O M; Kupryjanowicz, Janusz; Uhl, Gabriele

    2015-11-16

    Competition between males and their sperm over access to females and their eggs has resulted in manifold ways by which males try to secure paternity, ranging from physically guarding the female after mating to reducing her receptivity or her attractiveness to subsequent males by transferring manipulative substances or by mechanically sealing the female reproductive tract with a copulatory plug. Copulations may also result in internal damage of the female genitalia; however, this is not considered as a direct adaptation against sperm competition but as a collateral effect. Here, we present a drastic and direct mechanism for securing paternity: the removal of coupling structures on female genitalia by males. In the orb-weaving spider Larinia jeskovi males remove the scapus, a crucial coupling device on the female external genital region. Reconstruction of the coupling mechanism using micro-CT-scanned mating pairs revealed that several sclerites of the male genitalia interact to break off the scapus. Once it is removed, remating cannot occur due to mechanical coupling difficulties. In the field, male-inflicted genital damage is very prevalent since all female L. jeskovi were found to be mutilated at the end of the mating season. External genital mutilation is an overlooked but widely spread phenomenon since 80 additional spider species were found for which male genital manipulation can be suspected. Interlocking genitalia provide an evolutionary platform for the rapid evolution of this highly effective mechanism to secure paternity, and we suspect that other animal groups with interlocking genital structures might reveal similarly drastic male adaptations. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Effect of prenatal alcohol exposure on childhood academic outcomes: contrasting maternal and paternal associations in the ALSPAC study.

    Rosa Alati

    Full Text Available The impact of low-to-moderate levels of alcohol consumption during pregnancy on child cognitive outcomes has been of recent concern. This study has tested the hypothesis that low-to-moderate maternal alcohol use in pregnancy is associated with lower school test scores at age 11 in the offspring via intrauterine mechanisms.We used data from the Avon Longitudinal Study of Parents and Children (ALSPAC, a birth cohort study based in the South West of England. Analyses were conducted on 7062 participants who had complete data on: maternal and paternal patterns of alcohol use in the first trimester and at 18 weeks' gestation, child's academic outcomes measured at age 11, gender, maternal age, parity, marital status, ethnicity, household crowding, home ownership status and parental education. We contrasted the association of mother's alcohol consumption during pregnancy with child's National Curriculum Key Stage 2 (KS2 test scores with the association for father's alcohol consumption (during the time the mother was pregnant with child's National Curriculum Key Stage 2 (KS2 test scores. We used multivariate linear regression to estimate mean differences and 95% confidence intervals [CI] in KS2 scores across the exposure categories and computed f statistics to compare maternal and paternal associations.Drinking up to 1 unit of alcohol a day during pregnancy was not associated with lower test scores. However, frequent prenatal consumption of 4 units (equivalent to 32 grams of alcohol on each single drinking occasion was associated with reduced educational attainment [Mean change in offspring KS2 score was -0.68 (-1.03, -0.33 for maternal alcohol categories compared to 0.27 (0.07, 0.46 for paternal alcohol categories]. Frequent consumption of 4 units of alcohol during pregnancy may adversely affect childhood academic outcomes via intrauterine mechanisms.

  20. Low-Grade Albuminuria Is Associated with Metabolic Syndrome and Its Components in Middle-Aged and Elderly Chinese Population.

    Jie Zhang

    Full Text Available Micro-albuminuria has been well established as one of the risk factors of metabolic syndrome (MetS. However, the association of MetS and its components with low-grade albuminuria among those with normal urinary albumin excretion has not been clearly elucidated in Chinese population.A cross-sectional study was conducted among 9,579 participants with normal urinary albumin excretion, who were recruited from Jia Ding District, Shanghai, China. The single-void first morning urine sample was collected for urinary albumin and creatinine measurements, and urinary albumin-to-creatinine ratio (UACR was calculated as urinary albumin divided by creatinine. Low-grade albuminuria was classified as sex-specific upper UACR quartile in this population. MetS was defined according to the National Cholesterol Education Program Adult Treatment Panel III criteria. The prevalence of MetS and its components increased across the UACR quartiles (all P trend <0.01. A multivariable adjusted logistic regression analysis revealed that the prevalence of MetS was gradually elevated according to the UACR quartiles (adjusted odds ratios [ORs] were 1.14, 1.24 and 1.59 for UACR quartiles 2, 3 and 4, compared with the lowest quartile; P trend<0.0001. In the further stratified logistic regression analyses, the associations between low-grade albuminuria and MetS were significant in both sex strata (male and female, both age strata (<60 and ≥60 years, both body mass index strata (<24 and ≥24 kg/m(2, and both diabetes strata (yes and no. Compared to the lowest UACR quartile, the participants in the highest quartile of UACR had the highest prevalence of central obesity (OR = 1.43; 95%CI = 1.25-1.63, high blood pressure (OR = 1.64; 95%CI = 1.43-1.87, hyperglycemia (OR = 1.52; 95%CI = 1.30-1.78 and high triglycerides (OR = 1.19; 95%CI = 1.04-1.37.Low-grade albuminuria was significantly associated with the increasing prevalence of MetS and its