bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rapid High Resolution Single Nucleotide Polymorphism–Comparative Genome Hybridization Mapping in Caenorhabditis elegans
Authors: Flibotte Stephane , Edgley Mark L , Maydan Jason , Taylor Jon , Zapf Rick , Waterston Robert , Moerman Donald G 
Published: October 2008

Abstract
We have developed a significantly improved and simplified method for high-resolution mapping of phenotypic traits in Caenorhabditis elegans using a combination of single nucleotide polymorphisms (SNPs) and oligo array comparative genome hybridization (array CGH). We designed a custom oligonucleotide array using a subset of confirmed SNPs between the canonical wild-type Bristol strain N2 and the Hawaiian isolate CB4856, populated with densely overlapping 50-mer probes corresponding to both N2 and CB4856 SNP sequences. Using this method a mutation can be mapped to a resolution of ∼200 kb in a single genetic cross. Six mutations representing each of the C. elegans chromosomes were detected unambiguously and at high resolution using genomic DNA from populations derived from as few as 100 homozygous mutant segregants of mutant N2/CB4856 heterozygotes. Our method completely dispenses with the PCR, restriction digest, and gel analysis of standard SNP mapping and should be easy to extend to any organism with interbreeding strains. This method will be particularly powerful when applied to difficult or hard-to-map low-penetrance phenotypes. It should also be possible to map polygenic traits using this method.
Prevalence of Low Bone Mass and Deficiencies of Vitamins D and K in Pediatric Patients With Cystic Fibrosis From 3 Canadian Centers
Authors: Grey Vijaylaxmi , Atkinson Stephanie , Drury Donna , Casey Linda , Ferland Guylaine , Gundberg Caren , Lands Larry C. 
Published: October 2008

OBJECTIVE. In this cross-sectional observational study, we assessed both vitamins D and K status and bone health in pancreatic insufficient pediatric patients with cystic fibrosis from 3 Canadian cystic fibrosis centers.
METHODS. Eighty-one patients who had cystic fibrosis and were clinically stable for at least 3 months were enrolled. At the time of the clinic visit, anthropometric variables, lung function, pubertal status, intake of calcium and vitamins D and K, and physical activity were assessed. Blood was taken for analysis of biochemical biomarkers of bone turnover and status of vitamins D and K, and a urine sample was obtained for calcium, creatinine, sodium, and deoxypyridoline analyses. Whole-body bone mineral content and lumbar spine (L1–L4) bone mineral density were measured.
RESULTS. The children were relatively well nourished and had moderate to mild lung disease. Low bone mineral mass defined as a z score between −1.0 and −2.0, for gender and age was detected in 38% of the children for whole body and in 28% for lumbar spine. z score less than −2.0 was observed in 7 children for both bone measures. Suboptimal vitamin D status occurred in 95% of patients; suboptimal vitamin K status occurred in 82% of patients. Measures of plasma osteocalcin and carboxy-terminal propeptide type 1 procollagen and urinary deoxypyridoline compared with reference values for age, gender, and pubertal status reflected a state of suppressed bone formation and elevated bone resorption in a large proportion of the patients.
CONCLUSIONS. Bone mass of the whole body and spine was lower than expected for chronological age in approximately one third of pediatric patients with cystic fibrosis irrespective of gender or age. This may be explained by the observation of low bone turnover for developmental stage as indicated by bone biomarkers. Suboptimal status of vitamins D and K may be key causative factors of the low bone status for age.
Impact of Intensive Care Practices on Short-Term and Long-term Outcomes for Extremely Preterm Infants: Comparison Between the British Isles and France
Authors: Bodeau-Livinec Florence , Marlow Neil , Ancel Pierre-Yves , Kurinczuk Jennifer J. , Costeloe Kate , Kaminski Monique 
Published: October 2008

OBJECTIVES. The objective of this study was to compare practices of care and outcomes of infants who were born between 23 and 25 weeks’ gestation in 1995 in the British Isles and in 1997–1998 in France.
METHODS. We examined 2 population-based cohorts in the British Isles (1892 births included) and in France (456 births): the EPICure and EPIPAGE studies. The rate of follow-up was 90% at 30 months and 86% at 2 years. At 5 to 6 years, the cognitive function of 64% of the children without severe disability was assessed in the EPICure study and 57% in the EPIPAGE study.
RESULTS. The mortality rate of live-born infants was lower in the EPICure study (25%) than in the EPIPAGE study (34%) before admission to a NICU but higher in the NICU (45% vs 29%, respectively), such that there was no difference in the proportions of survivors at discharge after adjustment for gestational age. The risk for severe brain lesions was 24% among infants who were admitted to a NICU in both studies, 41% in the EPICure study versus 67% in the epidemiologic study on great prematurity (EPIPAGE) among infants who died after discontinued treatment in NICU, and 17% vs 11% among survivors at discharge. The risk for cerebral palsy at 24 to 30 months was 20% in the EPICure study versus 16% in the EPIPAGE study, whereas the risk for overall cognitive score of &lt;70 at 5 to 6 years was 10% vs 14%, respectively.
CONCLUSIONS. Despite apparent differences in the modalities of limitation of intensive care, the outcomes of infants who were born at 23 to 25 weeks’ gestation in the EPICure and EPIPAGE studies were not significantly different.
Gestational Diabetes Hinders Language Development in Offspring
Authors: Dionne Ginette , Boivin Michel , Séguin Jean R. , Pérusse Daniel , Tremblay Richard E. 
Published: October 2008

BACKGROUND. Previous studies have suggested that language is affected in infants of diabetic mothers, yet there have been no systematic investigations to address this question.
OBJECTIVE. Our goal was to compare infants of diabetic mothers and controls on language outcomes from ages 18 months to 7 years.
METHODS. This was a case-control longitudinal design with 2 birth cohorts: 1835 singletons from the Quebec Longitudinal Study of Child Development (born October 1997 to July 1998) and 998 twins from the Quebec Newborn Twin Study (born November 1995 to July 1998). Cases were 221 infants of diabetic mothers (105 singletons and 116 twins), and controls were 2612 children (1730 singletons and 882 twins) for whom at least 1 language measure from ages 18 months to 7 years was available. Exclusion criteria were gestation of &lt;32 weeks. The outcome measures were McArthur Communicative Development Inventory expressive and receptive vocabulary and grammar at 18 months and 30 months, the Peabody Picture Vocabulary Test receptive vocabulary at 48 months and expressive and receptive vocabulary at 60 months, and Early Development Instrument teacher-assessed communication at 72 months and 84 months (kindergarten and first grade).
RESULTS. Analyses of variance (controlling for gender, socioeconomic status, and perinatal factors) revealed effects of gestational diabetes on expressive language at 18, 30, and 72/84 months. Infants of diabetic mothers scored 0.27 to 0.41 SD lower than controls and were 2.2 times more at risk of a language impairment. Genes and maternal education both moderated the effect of gestational diabetes on expressive language during this period.
CONCLUSION. Gestational diabetes hinders expressive language in offspring into middle childhood. Genes are strongly associated with the risk of delays in infants of diabetic mothers, and offspring of educated mothers are less affected.
Cumulative Violence Exposure and Self-Rated Health: Longitudinal Study of Adolescents in the United States
Authors: Boynton-Jarrett Renée , Ryan Louise M. , Berkman Lisa F. , Wright Rosalind J. 
Published: October 2008

OBJECTIVE. The goal was to determine whether cumulative exposure to violence in childhood and adolescence contributes to disparities in self-rated health among a nationally representative sample of US adolescents.
METHODS. The National Longitudinal Survey of Youth 1997 is an ongoing, 8-year (1997–2004), longitudinal, cohort study of youths who were 12 to 18 years of age at baseline (N = 8224). Generalized estimating equations were constructed to investigate the relationship between cumulative exposure to violence and risk for poor health.
RESULTS. At baseline, 75% of subjects reported excellent or very good health, 21.5% reported good health, and 4.5% reported fair or poor health. Cumulative violence exposures (witnessed gun violence, threat of violence, repeated bullying, perceived safety, and criminal victimization) were associated with a graded increase in risk for poor health and reduced the strength of the relationship between household income and poor health. In comparison with subjects with no violence exposure, risk for poor self-rated health was 4.6 times greater among subjects who reported ≥5 forms of cumulative exposure to violence, controlling for demographic features and household income. Trend analysis revealed that, for each additional violence exposure, the risk of poor health increased by 38%. Adjustment for alcohol use, drug use, smoking, depressive symptoms, and family and neighborhood environment reduced the strength of the relationships between household income and cumulative exposure to violence scores and poor self-rated health, which suggests partial mediation of the effects of socioeconomic status and cumulative exposure to violence by these factors.
CONCLUSIONS. In this nationally representative sample, social inequality in risk for poor self-rated health during the transition from adolescence to adulthood was partially attributable to disparities in cumulative exposure to violence. A strong graded association was noted between cumulative exposure to violence and poor self-rated health in adolescence and young adulthood.
Does Watching Sex on Television Predict Teen Pregnancy? Findings From a National Longitudinal Survey of Youth
Authors: Chandra Anita , Martino Steven C. , Collins Rebecca L. , Elliott Marc N. , Berry Sandra H. , Kanouse David E. , Miu Angela 
Published: October 2008

OBJECTIVE. There is increasing evidence that youth exposure to sexual content on television shapes sexual attitudes and behavior in a manner that may influence reproductive health outcomes. To our knowledge, no previous work has empirically examined associations between exposure to television sexual content and adolescent pregnancy.METHODS. Data from a national longitudinal survey of teens (12–17 years of age, monitored to 15–20 years of age) were used to assess whether exposure to televised sexual content predicted subsequent pregnancy for girls or responsibility for pregnancy for boys. Multivariate logistic regression models controlled for other known correlates of exposure to sexual content and pregnancy. We measured experience of a teen pregnancy during a 3-year period.RESULTS. Exposure to sexual content on television predicted teen pregnancy, with adjustment for all covariates. Teens who were exposed to high levels of television sexual content (90th percentile) were twice as likely to experience a pregnancy in the subsequent 3 years, compared with those with lower levels of exposure (10th percentile).CONCLUSIONS. This is the first study to demonstrate a prospective link between exposure to sexual content on television and the experience of a pregnancy before the age of 20. Limiting adolescent exposure to the sexual content on television and balancing portrayals of sex in the media with information about possible negative consequences might reduce the risk of teen pregnancy. Parents may be able to mitigate the influence of this sexual content by viewing with their children and discussing these depictions of sex.
Linkages Between Internet and Other Media Violence With Seriously Violent Behavior by Youth
Authors: Ybarra Michele L. , Diener-West Marie , Markow Dana , Leaf Philip J. , Hamburger Merle , Boxer Paul 
Published: October 2008

OBJECTIVE. The goal was to examine the association between violence in the media and the expression of seriously violent behavior among older children and teenagers in a national sample.METHODS. The Growing up with Media survey was a national, online survey of 1588 youths that was conducted in August and September 2006. Participants were 10- to 15-year-old youths who had used the Internet at least once in the past 6 months. The main outcome measure was self-reported seriously violent behavior, including (1) shooting or stabbing someone, (2) aggravated assault, (3) robbery, and (4) sexual assault.RESULTS. Five percent of youths reported engaging in seriously violent behavior in the past 12 months. Thirty-eight percent reported exposure to violence online. Exposures to violence in the media, both online and off-line, were associated with significantly elevated odds for concurrently reporting seriously violent behavior. Compared with otherwise similar youths, those who indicated that many, most, or all of the Web sites they visited depicted real people engaged in violent behavior were significantly more likely to report seriously violent behavior. After adjustment for underlying differences in youth characteristics, respondents' alcohol use, propensity to respond to stimuli with anger, delinquent peers, parental monitoring, and exposures to violence in the community also were associated with significantly increased odds of concurrently reporting seriously violent behavior.CONCLUSIONS. Exposure to violence in the media is associated with concurrent reports of seriously violent behavior across media (eg, games and music). Newer forms of violent media seem to be especially concerning.
Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses
Authors: Gibson Kate , Halliday Jane L. , Kirby Denise M. , Yaplito-Lee Joy , Thorburn David R. , Boneh Avihu 
Published: October 2008

OBJECTIVES. The goals were to examine the frequency of perinatal manifestations of mitochondrial oxidative phosphorylation disorders within a population-based cohort, to characterize these manifestations, to identify a possible association between these manifestations and diagnoses at a later age, and to identify possible associations between perinatal complications and specific disorders.
METHODS. We conducted a retrospective review of clinical and laboratory records for all patients with definitive oxidative phosphorylation disorders who were diagnosed and treated at the Royal Children's Hospital in Melbourne between 1975 and 2006 (N = 107; male/female ratio: 1.41).
RESULTS. Neonatal presentation was recorded for 32 of 107 patients (male/female ratio: 1:1), including 19 who presented on day 1 of life. Prematurity (gestational age of &lt;37 weeks) was noted for 12.6% of the 107 patients. Of the 85 infants with known birth weights, 24 were in the ≤10th percentile for gestational age (11 with complex I deficiency), and 9 of those (6 with complex I deficiency) were in the &lt;3rd percentile. The most common presenting neonatal symptoms after the first day of life were poor feeding, recurrent vomiting, and failure to thrive. We noted 3 main clinical neonatal forms of oxidative phosphorylation disorders (encephalomyopathic, hepatointestinal, and cardiac). Of the 32 infants, 28 died (13 in the neonatal period). Complex I deficiency was identified for 15 neonates, combined complexes I, III, and IV deficiency for 7 neonates, and combined complexes I and IV deficiency for 3 neonates. No neonates had complex IV deficiency. Six neonates had nuclear mutations, and 2 neonates had the mitochondrial DNA 8993T&gt;G mutation.
CONCLUSIONS. Oxidative phosphorylation disorders present commonly in the neonatal period. The combination of nonspecific manifestations such as prematurity and intrauterine growth retardation with early postnatal decompensation or poor feeding or vomiting and persistent lactic acidosis should suggest the possibility of an oxidative phosphorylation disorder.
Trends in Hospitalizations Associated With Pediatric Traumatic Brain Injuries
Authors: Bowman Stephen M. , Bird Tommy M. , Aitken Mary E. , Tilford John M. 
Published: October 2008

OBJECTIVES. The goals were to describe trends in pediatric traumatic brain injury hospitalizations in the United States and to provide national benchmarks for state and regional comparisons.
METHODS. Analysis of existing data (1991–2005) from the Nationwide Inpatient Sample, the largest longitudinal, all-payer, inpatient care database in the United States, was performed. Children 0 to 19 years of age were included. Annual rates of traumatic brain injury-related hospitalizations, stratified according to age, gender, severity of traumatic brain injury, and outcome, were determined.
RESULTS. From 1991 to 2005, the estimated annual incidence rate of pediatric hospitalizations associated with traumatic brain injury decreased 39%, from 119.4 to 72.7 hospitalizations per 100 000. The rates decreased for all age groups and for both boys and girls, although the rate for boys remained consistently higher at each time point. Fatal hospitalization rates decreased from 3.5 deaths per 100 000 in 1991–1993 to 2.8 deaths per 100 000 in 2003–2005. The rate of mild traumatic brain injury hospitalizations accounted for most of the overall decrease, whereas nonfatal hospitalization rates for moderate and severe traumatic brain injuries remained relatively unchanged.
CONCLUSIONS. Although pediatric hospitalization rates for mild traumatic brain injuries have decreased over the past 15 years, rates for moderate and severe traumatic brain injuries are relatively unchanged. Our study provides national estimates of pediatric traumatic brain injury hospitalizations that can be used as benchmarks to increase injury prevention effectiveness through targeting of effective strategies.
Preeclampsia and Risk for Epilepsy in Offspring
Authors: Wu Chun Sen , Sun Yuelian , Vestergaard Mogens , Christensen Jakob , Ness Roberta B. , Haggerty Catherine L. , Olsen Jørn 
Published: October 2008

OBJECTIVE. Eclampsia has been found to be a strong risk factor for epilepsy in the offspring, but it is unclear whether the risk also applies to the preceding condition, preeclampsia.
METHODS. We conducted a population-based cohort study of 1537860 singletons born in Denmark (1978–2004). Information on preeclampsia (mild, severe, and unspecified), eclampsia, and epilepsy was obtained from the Danish National Hospital Register. Information on gestational age, birth weight, and Apgar score was obtained from the Danish Medical Birth Registry. We used Cox proportional hazard models to estimate the incidence rate ratio of epilepsy for children who were exposed to preeclampsia or eclampsia in prenatal life.
RESULTS. We identified 45288 (2.9%) children who were exposed to preeclampsia (34823 to mild, 7043 to severe, and 3422 to unspecified preeclampsia) and 654 (0.04%) to eclampsia during their prenatal life. We identified 20260 people who received a diagnosis of epilepsy during up to 27 years of follow-up in the entire cohort. Prenatal exposure to preeclampsia was associated with an increased risk for epilepsy among children with a gestational age at birth of at least 37 weeks. For mild preeclampsia, the incidence rate ratios were 1.16 among children born at term and 1.68 for children born postterm; for severe preeclampsia, the incidence rate ratios were 1.41 among children born at term and 2.57 among children born postterm. No associations between preeclampsia and epilepsy were found among children who were born preterm. Eclampsia was associated with epilepsy with an incidence rate ratio of 1.29 for children born at term and 5.03 for children born postterm.
CONCLUSIONS. Prenatal exposure to both preeclampsia and eclampsia was associated with an increased risk of epilepsy in children born after 37 weeks of gestation.
Candidate Genes and Cerebral Palsy: A Population-Based Study
Authors: Gibson Catherine S. , MacLennan Alastair H. , Dekker Gustaaf A. , Goldwater Paul N. , Sullivan Thomas R. , Munroe David J. , Tsang Shirley , Stewart Claudia , Nelson Karin B. 
Published: October 2008

OBJECTIVE. The objective of this study was to examine whether selected genetic polymorphisms in the infant are associated with later-diagnosed cerebral palsy.
METHODS. A population-based case-control study was conducted of 28 single-nucleotide polymorphisms measured in newborn screening blood spots. A total of 413 children with later-diagnosed cerebral palsy were born to white women in South Australia in 1986–1999, and there were 856 control children. Distributions of genotypic frequencies were examined in total cerebral palsy, in gestational age groups, and by types of cerebral palsy and gender. Genotyping was performed by using a TaqMan assay.
RESULTS. For inducible nitric-oxide synthase, possession of the T allele was more common in all children with cerebral palsy and for heterozygotes who were born at term. For lymphotoxin α, homozygous variant status was associated with risk for cerebral palsy and with spastic hemiplegic or quadriplegic cerebral palsy. Among term infants, heterozygosity for the endothelial protein C receptor single-nucleotide polymorphism was more frequent in children with cerebral palsy. In preterm infants, the variant A allele of interleukin 8 and heterozygosity for the β-2 adrenergic receptor were associated with cerebral palsy risk. Interleukin 8 heterozygote status was associated with spastic diplegia. Variants of several genes were associated with cerebral palsy in girls but not in boys.
CONCLUSIONS. Two of the 28 single-nucleotide polymorphisms examined were associated with all types of spastic cerebral palsy in both gestational age groups and others with cerebral palsy in gestational age or cerebral palsy subgroups. Some of these associations support previous findings. There may be a genetic contribution to cerebral palsy risk, and additional investigation is warranted of genes and gene-environment interactions in cerebral palsy.