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  • 1
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    Congenital Malformations and Intrauterine Growth Retardation: A Population Study
    American Academy of Pediatrics (AAP) ; 1988
    In:  Pediatrics Vol. 82, No. 1 ( 1988-07-01), p. 83-90
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 82, No. 1 ( 1988-07-01), p. 83-90
    Abstract: The relationship between congenital malformations and intrauterine growth retardation was investigated using data from the population-based Metropolitan Atlanta Congenital Defects Program. Between 1970 and 1984, the system ascertained 13,074 infants with major structural malformations diagnosed in the first year of life and born to metropolitan Atlanta residents. These infants were classified as having intrautenine growth retardation if their birth weight was below the race-, sex-, and gestational age-specific tenth percentile limits for all Atlanta births. Overall, the frequency of intrauterine growth retardation among malformed infants was 22.3% (relative risk 2.6). Of 48 defect categories evaluated, 46 were associated with excess intrauterine growth retardation, most notably chromosomal anomalies (eg, 83.7% for infants with trisomy 18, relative risk 46) and anencephaly (73.3%, relative risk 25). Only a few isolated defects (such as isolated polydactyly, pylonic stenosis, and congenital hip dislocation) were not associated with excess intrauterine growth retardation. Among infants with multiple malformations, the frequency of intrauterine growth retardation increased markedly with increasing number of defects—from 20% for infants with two defects to 60% for infants with nine or more defects. The relationship between malformations and intrauterine growth retardation can be explained by one or more of three mechanisms: (1) intrauterine growth retardation can be a secondary disturbance to the presence of malformations; (2) intrauterine growth retardation can predispose the fetus to malformations; and (3) intrauterine growth retardation can coexist with malformations because of common etiologic factors. Because the risk of a major defect diagnosed in the first year increases from 3.3% for infants without intrauterine growth retardation to 8.0% for infants with intrauterine growth retardation, the presence of intrauterine growth retardation may help in the prenatal and neonatal detection of congenital malformations.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.82.1.83
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 1988
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  • 2
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    Is Family History a Useful Tool for Detecting Children at Risk for Diabetes and Cardiovascular Diseases? A Public Health Perspective
    American Academy of Pediatrics (AAP) ; 2007
    In:  Pediatrics Vol. 120, No. SUPPLEMENT_2 ( 2007-09-01), p. S78-S86
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 120, No. SUPPLEMENT_2 ( 2007-09-01), p. S78-S86
    Abstract: Several studies indicate that the risk for type 2 diabetes or cardiovascular disease is detectable in childhood, although these disorders may not emerge until adulthood. In addition, type 2 diabetes and cardiovascular disease seem to share risk factors, including obesity and dyslipidemia, and might even share etiology, which has important implications for screening and prevention strategies for both diseases. Primary prevention, in particular, has gained importance because the results of major randomized, controlled trials strongly suggest that, at least in high-risk adult groups, type 2 diabetes can be prevented or delayed. Furthermore, some intervention studies indicate that the risk factors for diabetes and cardiovascular disease can be reduced in children. A simple way to detect risk for either diabetes or cardiovascular disease is to examine the family history. Numerous studies have shown that adults who have 1 or more first- or second-degree relatives affected with diabetes or cardiovascular disease are at high risk of having or developing these diseases. Currently, there are no overall screening strategies recommended for either diabetes or cardiovascular disease among children and adolescents. The evidence is strong, however, that youth with a positive family history already show signs of increased risk for these conditions. Family history can be part of the approach to screening for children at risk of diabetes and cardiovascular disease and should be part of prevention campaigns aimed at reducing the burden of these diseases and their risk factors in children.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.2007-1010G
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 2007
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  • 3
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    A Population Study of the VACTERL Association: Evidence for Its Etiologic Heterogeneity
    American Academy of Pediatrics (AAP) ; 1983
    In:  Pediatrics Vol. 71, No. 5 ( 1983-05-01), p. 815-820
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 71, No. 5 ( 1983-05-01), p. 815-820
    Abstract: Using the population-based data from the Metropolitan Atlanta Congenital Defects Program, the interrelation of the six defects that are components of the VACTERL association were investigated. There were 400 cases with two or more of these defects, whereas only 29 cases would be expected if the defects had occurred together randomly. There were 76 cases with three or more defects, whereas less than one case was expected. Of these 76 cases, seven had recognized causes (five chromosomal anomalies, two single-gene disorders); another 19 had recognized clinical phenotypes or syndromes of unknown etiology. In the remaining 50 cases, ventricular septal defect was the most common cardiovascular defect (30.0%), and renal agenesis was the most common renal anomaly (30%). Their most common limb defects were reduction deformities (34%) and polydactyly (20%). This study confirms the clinically recognized nonrandom occurrence of the VACTERL association. It also shows that the association is a spectrum of various combinations of its components, which can be a manifestation of several recognized disorders, rather than a distinct anatomic or etiologic entity. A common denominator of the VACTERL association is suggested to be a defective mesodermal development during embryogenesis, due to a variety of causes and leading to overlapping manifestations.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.71.5.815
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 1983
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  • 4
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    Diabetes Mellitus During Pregnancy and the Risks for Specific Birth Defects: A Population-Based Case-Control Study
    American Academy of Pediatrics (AAP) ; 1990
    In:  Pediatrics Vol. 85, No. 1 ( 1990-01-01), p. 1-9
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 85, No. 1 ( 1990-01-01), p. 1-9
    Abstract: Although the excess risk for birth defects among children of mothers with diabetes mellitus is well documented, there are few data concerning the risk for specific malformations. In the Atlanta Birth Defects Case-Control Study, those risks for malformations were evaluated. The population-based study included 4929 live and stillborn babies with major malformations ascertained by the Metropolitan Atlanta Congenital Defects Program in the first year of life born to residents of Metropolitan Atlanta between 1968 and 1980. The study also included 3029 nonmalformed live babies who were frequency-matched to case babies by race, period of birth, and hospital of birth. The relative risk for major malformations among infants of mothers with insulin-dependent diabetes mellitu (n = 28) was 7. (5% confidence interval [CI]1.9, 33.5) compared with infants of nondiabetic mothers. The relative risks for major central nervous system and cardiovascular system defects were 15.5 (95% CI = 3.3, 73.8) and 18.0 (95% CI = 3.9, 82.5), respectively. The absolute risks for major, central nervous system, and cardiovascular system malformations among infants of diabetic mothers were 18.4, 5.3, and 8.5 per 100 live births, respectively. Infants of mothers with gestational diabetes mellitus who required insulin during the third trimester of pregnancy were 20.6 (95% CI = 2.5, 168.5) times more likely to have major cardiovascular system defects than infants of nondiabetic mothers. The absolute risk for infants of this group of diabetic mothers was 9.7%. No statistically significant differences were found among infants of mothers with gestational diabetes mellitus who did not require insulin during pregnancy. These results suggest a stronger association than previously reported between maternal diabetes mellitus and specific categories of major malformations and implicate gestational diabetes mellitus as a risk factor for major cardiovascular system defects.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.85.1.1
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 1990
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  • 5
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    Periconceptional Multivitamin Use and the Occurrence of Conotruncal Heart Defects: Results From a Population-based, Case-Control Study
    American Academy of Pediatrics (AAP) ; 1996
    In:  Pediatrics Vol. 98, No. 5 ( 1996-11-01), p. 911-917
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 98, No. 5 ( 1996-11-01), p. 911-917
    Abstract: Objective. The preventive efficacy of the periconceptional use of multivitamins is well established for neural tube defects, much less so for other birth defects. We conducted a population-based, case-control study to assess the effects of multivitamin use on the risk for conotruncal defects, a group of severe heart defects that includes transposition of the great arteries, tetralogy of Fallot, and truncus arteriosus. Methods. From the population-based Atlanta Birth Defects Case-Control Study, we identified 158 case infants with conotruncal defects and 3026 unaffected, randomly chosen control infants, born from 1968 through 1980 to mothers residing in metropolitan Atlanta. Periconceptional multivitamin use was defined as reported regular use from 3 months before conception through the third month of pregnancy. We present the results of the crude analysis, because the multivariate model yielded essentially identical results. Results. Mothers who reported periconceptional multivitamin use had a 43% lower risk of having infants with conotruncal defects (odds ratio [OR], 0.57; 95% confidence interval [CI] , 0.33 to 1.00) than did mothers who reported no use. The estimated relative risk was lowest for isolated conotruncal defects (OR, 0.41; 95% CI, 0.20 to 0.84) compared with those associated with noncardiac defects (OR, 0.91; 95% CI, 0.33 to 2.52) or a recognized syndrome (OR, 1.82; 95% CI, 0.31 to 10.67). Among anatomic subgroups of defects, transposition of the great arteries showed the greatest reduction in risk (OR, 0.36; 95% CI, 0.15 to 089). Conclusions. Periconceptional multivitamin use is associated with a reduced risk for conotruncal defects. These findings could have major implications for the prevention of these birth defects.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.98.5.911
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 1996
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  • 6
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    Clinical-Epidemiologic Assessment of Patterns of Birth Defects Associated With Human Teratogens: Application to Diabetic Embryopathy
    American Academy of Pediatrics (AAP) ; 1989
    In:  Pediatrics Vol. 84, No. 4 ( 1989-10-01), p. 658-665
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 84, No. 4 ( 1989-10-01), p. 658-665
    Abstract: The concepts of sensitivity, specificity, and predictive value can be used to assess patterns of birth defects associated with human teratogens. Although sensitivity of any single defect is generally low for many known teratogens, the presence of specific defect combinations is usually predictive of the teratogen. To evaluate the patterns of birth defects associated with diabetic embryopathy, a sensitivity-specificity analysis was performed on 4929 infants with major defects ascertained by the population-based Metropolitan Atlanta Congenital Defects Program between 1968 and 1980. By reviewing hospital records, maternal insulin-dependent diabetes mellitus was confirmed in 26 infants. Patterns of defects were evaluated among infants born to mothers with insulin-dependent diabetes mellitus and compared with the rest of the Metropolitan Atlanta Congenital Defects Program case population. Multiple logistic regression analysis was used to assess defect combinations that predict for insulin-dependent diabetes mellitus. Of 26 infants, 8 had multiple defects. However, most defects and their combinations were poorly sensitive and predictive for insulin-dependent diabetes mellitus. The predictive value for insulin-dependent diabetes mellitus was greatest for the combination of vertebral and cardiovascular anomalies (6.5%). Also, several pathogenetic mechanisms were noted among patients with insulin-dependent diabetes mellitus, such as cell migration defects, cell death events, deformations, and cardiac flow lesions. The inability to find a clear-cut phenotype for diabetic embryopathy may be due to several etiologic factors and mechanisms associated with diabetic embryopathy.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.84.4.658
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 1989
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  • 7
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    Pregnancy Experience after Delivery of a Child with a Major Birth Defect: A Population Study
    American Academy of Pediatrics (AAP) ; 1995
    In:  Pediatrics Vol. 95, No. 1 ( 1995-01-01), p. 59-65
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 95, No. 1 ( 1995-01-01), p. 59-65
    Abstract: Objective. Data from a large population-based, case-control study were analyzed to determine whether women giving birth to children with major birth defects have different subsequent pregnancy patterns than those giving birth to live-born babies without defects. Other studies examining this phenomenon have been smaller, have not been population-based, or have not addressed the different effects that a wide range of major defects might have on mothers' subsequent pregnancy rates. Methods. Mothers of 4918 infants with major birth defects born from 1968 through 1980 in metropolitan Atlanta were compared with mothers of 3029 control infants, frequency-matched on birth year, birth hospital, and race. Results. The pregnancy rate in the first 3 years after the index birth was higher among case mothers (36%) than among control mothers (30%, P & lt; .0001). This excess was seen for mothers of stillborn case infants (64%) and mothers of case infants who died in infancy (58%), but not for mothers of case infants who survived the first year of life (31%). Pregnancy rates varied by birth defect type. Maternal and infant factors varied among case and control subjects and influenced subsequent pregnancy rates. Conclusion. The reproductive behavior observed in this study supports the theory that mothers of nonsurviving children with birth defects compensate by acting to "replace" the lost child. Reproductive behavior was also strongly associated with having completed a previous pregnancy and by the type of birth defect.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.95.1.59
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 1995
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  • 8
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    Early Diagnosis of Cystic Fibrosis in the Newborn Period and Risk of Pseudomonas aeruginosa Acquisition in the First 10 Years of Life: A Registry-Based Longitudinal Study
    American Academy of Pediatrics (AAP) ; 2001
    In:  Pediatrics Vol. 107, No. 2 ( 2001-02-01), p. 274-279
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 107, No. 2 ( 2001-02-01), p. 274-279
    Abstract: Controlled clinical trial data have suggested that identifying asymptomatic cystic fibrosis (CF) patients through newborn screening improves health outcomes of affected children in the first decade of life. However, it is unclear whether these improvements also include a reduction in risk for bronchial infection, the major determinant of CF morbidity. The authors therefore investigated the association between early CF diagnosis and acquisition of Pseudomonas aeruginosa, the major bronchial pathogen, in the first decade of life. Methodology. Longitudinal data on 3625 CF patients diagnosed between 1982 and 1990 and before 36 months of age were ascertained from the National Cystic Fibrosis Patient Registry. We compared P aeruginosa acquisition in the first 10 years of life among 4 groups: EAD (early asymptomatic diagnosis)— & lt;6 weeks, by pre/neonatal screening, genotype, family history (n = 157); ESD (early symptomatic diagnosis) (n = 227); LAD (late asymptomatic diagnosis)—6 weeks to 36 months (n = 161); and LSD (late symptomatic diagnosis) (n = 3080). P aeruginosa acquisition was determined from yearly sputum and/or bronchoscopy cultures. Children whose CF diagnoses followed meconium ileus or whose cultures were obtained only from nasal samples were excluded from the study. Results. Kaplan Meier analyses for P aeruginosa acquisition were conducted for each diagnostic group. Regression models were used to generate adjusted relative hazards with EAD as the referent group. Relative hazards were 0.9 (95% confidence interval [CI]: 0.7–1.2) for ESD, 0.8 (95% CI: 0.6–1.2) for LAD, and 1.0 (95% CI: 0.7–1.2) for LSD. The risk of acquiringP aeruginosa was therefore not significantly different between children diagnosed early, late, asymptomatically, or symptomatically. Conclusions. These data suggest that, despite improvements in other health outcomes from newborn screening for CF, early asymptomatic diagnosis of CF does not affect P aeruginosa acquisition.
    Type of Medium: Online Resource
    ISSN: 1098-4275 , 0031-4005
    URL: Article
    DOI: 10.1542/peds.107.2.274
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 2001
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  • 9
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    From Public Health Emergency to Public Health Service: The Implications of Evolving Criteria for Newborn Screening Panels
    American Academy of Pediatrics (AAP) ; 2006
    In:  Pediatrics Vol. 117, No. 3 ( 2006-03-01), p. 923-929
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 117, No. 3 ( 2006-03-01), p. 923-929
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.2005-0553
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 2006
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  • 10
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    Impact of Prenatal Diagnosis on the Birth Prevalence of Neural Tube Defects, Atlanta, 1990-4991
    American Academy of Pediatrics (AAP) ; 1995
    In:  Pediatrics Vol. 96, No. 5 ( 1995-11-01), p. 880-883
    Details
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 96, No. 5 ( 1995-11-01), p. 880-883
    Abstract: Objective. To determine the impact of prenatal diagnosis on the birth prevalence of neural tube defects (NTDs) in Atlanta during 1990 through 1991. Methods. Live-born and stillborn infants with NTDs who were at least 20 weeks' gestation were ascertained by the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based birth defects registry. Prenatally diagnosed NTD-affected pregnancies were ascertained from the four perinatal centers and the three genetic laboratories operating in Atlanta during 1990 through 1991. Fetal death certificates were also reviewed for potential cases. Results. During 1990 through 1991, MACDP ascertained 59 NTD cases, for a birth prevalence of 0.77/1000 live births. During this period, an additional 28 NTD-affected pregnancies were detected prenatally and terminated before 20 weeks' gestation. The adjusted NTD rate during 1990 through 1991, which includes prenatally diagnosed cases, was 1.13/1000 live births. Conclusions. Prenatal diagnosis is making a substantial impact on the birth prevalence of NTDs in Atlanta. However, since NTD rates in Atlanta were 2 to 2.5 per 1000 live births in 1970, prenatal diagnosis and termination of pregnancy does not completely account for the declining rate of NTDs.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    URL: Article
    DOI: 10.1542/peds.96.5.880
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 1995
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