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Meberg Alf - - 2008
Infants with potentially life threatening congenital heart defects (CHDs) are discharged from hospital after birth with the condition unrecognized. Improved prenatal ultrasound imaging and universal pulse oximetry screening of babies in nurseries are strategies that probably most would contribute to avoid such defects to be missed. In general combining first ...
Reller Mark D - - 2008
To determine an accurate estimate of the prevalence of congenital heart defects (CHD) using current standard diagnostic modalities. We obtained data on infants with CHD delivered during 1998 to 2005 identified by the Metropolitan Atlanta Congenital Defects Program, an active, population-based, birth defects surveillance system. Physiologic shunts in infancy and ...
David Anna L - - 2008
Gastroschisis is a defect in the abdominal wall, typically on the right side of a normally inserted umbilical cord through which bowel and other abdominal contents herniate. Classically, no membrane covers the herniated abdominal contents, which distinguishes the defect from exomphalos, an important differential diagnosis. Gastroschisis is usually diagnosed prenatally ...
Boulet Sheree L - - 2008
BACKGROUND: The prevalence of NTDs in the US declined significantly after mandatory folic acid fortification; however, it is not known if the prevalence of NTDs has continued to decrease in recent years relative to the period immediately following the fortification mandate. METHODS: Population-based data from 21 birth defects surveillance systems ...
Kumar Basant - - 2008
A 12-hour-old male infant presented with prolapsed abdominal content through a defect on left side of chest wall with respiratory distress. A thorough clinical examination suggested absence of ectopia cordis, abdominal wall defect, and any bony anomaly. The child expired after 6 hours of admission because of respiratory distress and ...
Godwin Kimberly A - - 2008
Fortification of grain products with folic acid has been shown to significantly reduce the occurrence of neural tube defects (NTDs) in Canada and elsewhere. However, the impact on non-NTD anomalies has not been well studied. Using the Alberta Congenital Anomalies Surveillance System (ACASS), we examined changes in occurrence of select ...
Shaw Gary M GM March of Dimes, California Research Division, Children's Hospital Oakland Research Institute, Oakland, CA, USA. - - 2008
Prepregnant obesity has been shown to be related to several birth defects, most notably neural tube defects. We investigated the previously observed association between obesity and spina bifida and also possible associations between obesity and other birth defects. We conducted a case-control study of fetuses and liveborn infants among California ...
Melve Kari Klungsøyr - - 2008
BACKGROUND/AIM: Parents whose first infant had birth defects may worry about a new pregnancy. Our aim was to study pregnancy outcomes among non-malformed second siblings in families where the first birth had a major birth defect. METHODS: Data were from the Medical Birth Registry of Norway from 1967 to 2004. ...
Husain Tasneem - - 2008
BACKGROUND: In utero vascular disruptions are thought to be associated with a variety of birth defects. This study examined the descriptive epidemiology of several of those defects using data from a large birth defects registry. METHODS: Data on birth defects ascertained from pregnancies in 1996-2002 were obtained from the Texas ...
Forrester Mathias B - - 2008
There is limited information on the specific structural birth defects associated with the abdominal wall defects (AWD) omphalocele and gastroschisis, particularly which defects occur with the AWD at greater than expected rates (rates among all infants and fetuses with birth defects other than the AWD). Using data from a population-based ...
Algert Charles S - - 2008
OBJECTIVES: To determine the percentage of liveborn infants with selected antenatally identifiable and correctable birth defects who were delivered at hospitals with co-located paediatric surgical units (co-located hospitals). Additionally, to determine the survival rates for these infants. PATIENTS AND METHODS: Data were from linked New South Wales hospital discharge records ...
Zhu Li - - 2008
Neural tube defects (NTD) are among the most common and devastating birth defects. Annually, in China, between 80,000 and 100,000 pregnancies result in children born with NTD. Northern China has the highest known rate of NTD in the world. Birth defects are becoming the leading cause of infant mortality in ...
Vogler Sarah A - - 2008
BACKGROUND: In infants with gastroschisis antenatal closure of the umbilical defect results in a proximal atresia with ischemia and/or volvulus of the extracorporeal midgut. It has been described as "closed gastroschisis" or "vanishing midgut." METHODS: A 10-year review of 219 gastroschisis patients identified 10 infants with this rare complication. RESULTS: ...
Smith, Tyler C.
The DoD Birth and Infant Registry provides systematic surveillance of DoD beneficiary births evaluates reproductive outcomes and conducts research to identify military-or deployment-specific risk factors that might significantly effect infant health. The Registry monitors the 45 major birth defects diagnoses outlined in the National Birth Defects Prevention Network. In 2001 ...
Honein Margaret A - - 2009
OBJECTIVE: To evaluate the association between preterm birth and major birth defects by maternal and infant characteristics and specific types of birth defects. STUDY DESIGN: We pooled data for 1995-2000 from 13 states with population-based birth defects surveillance systems, representing about 30% of all U.S. births. Analyses were limited to ...
Nordick Kristen - - 2008
The Paf1 complex (Paf1, Ctr9, Cdc73, Rtf1, and Leo1) is normally associated with RNA polymerase II (Pol II) throughout the transcription cycle. However, the loss of either Rtf1 or Cdc73 results in the detachment of the Paf1 complex from Pol II and the chromatin form of actively transcribed genes. Using ...
Ekici Filiz - - 2008
The aim of this study was to evaluate the incidence and spontaneous closure rate of ventricular septal defects in a randomly selected newborn population, using color flow Doppler echocardiographic screening. Color flow Doppler echocardiographic screening was performed in 1075 neonates within the first 72 hours of life. We also followed-up ...
Zhang Feng - - 2008
The introduction of two microbial opsin-based tools, channelrhodopsin-2 (ChR2) and halorhodopsin (NpHR), to neuroscience has generated interest in fast, multimodal, cell type-specific neural circuit control. Here we describe a cation-conducting channelrhodopsin (VChR1) from Volvox carteri that can drive spiking at 589 nm, with excitation maximum red-shifted approximately 70 nm compared ...
Boulet Sheree L - - 2008
Craniosynostosis is a birth defect characterized by premature fusion of one or more cranial sutures. We describe the birth prevalence of craniosynostosis and related risk factors among infants born to residents of metropolitan Atlanta during 1989-2003. Data from the Metropolitan Atlanta Congenital Defects Program (MACDP) were used to identify infants ...
Einarson Adrienne - - 2008
OBJECTIVE: In 2005-2006, several studies noted an increased risk of cardiovascular birth defects associated with maternal use of paroxetine compared with other antidepressants in the same class. In this study, the authors sought to determine whether paroxetine was associated with an increased risk of cardiovascular defects in infants of women ...
Malik Sadia - - 2008
OBJECTIVES: In a population-based case-control study, we investigated the association between congenital heart defects and maternal smoking. METHODS: The National Birth Defects Prevention Study enrolled 3067 infants with nonsyndromic congenital heart defects and their parents and 3947 infants without birth defects and their parents. Affected infants had > or = ...
Forrester Mathias B - - 2008
The aim of the investigation was to describe the risk of selected types of birth defects among older siblings of infants and fetuses with specific birth defects. Using data from a population-based birth defects registry in Hawaii for deliveries during 1986-2000, the precurrence risk (risk among older siblings) for any ...
Walker Karen - - 2008
PURPOSE: The purpose of the study was to describe the incidence, epidemiology, and survival of infants with small bowel atresia/stenosis in New South Wales (NSW) and the Australian Capital Territory (ACT), Australia. METHODS: A population-based cohort study was conducted of infants diagnosed with small bowel atresia/stenosis in NSW and the ...
Njamnshi A K - - 2008
BACKGROUND: Neural tube defects (NTD) are complex malformations rare in black Americans and Japanese. The incidence related to births or community-based studies have not been published in Cameroon or in black sub-Saharan countries, except one study in the Nigerian middle belt [Airede KI. Neural tube defects in the middle belt ...
Gebreab Samson Y - - 2008
BACKGROUND: Many states have implemented birth defects surveillance systems to monitor and disseminate information regarding birth defects. However, many of these states rely on tabular methods to disseminate statistical birth defects summaries. An innovative presentation technique for birth defect data that portrays the information in a joint geographical and statistical ...
Velilla Paula A - - 2008
Immaturity of the neonatal immune system is considered an underlying factor for enhanced severity of infections in newborns. Functional defects of neonatal antigen-presenting cells lead to defective T-cell responses. T cells from uninfected neonates exposed in utero to HIV-1 (EU) exhibit phenotypic and functional alterations; however, the function of their ...
- - 2008
Major structural or genetic birth defects affect approximately 3% of births in the United States, are a major contributor to infant mortality, and result in billions of dollars in costs for care. Although the causes of most major birth defects are unknown, concerns have been raised that certain factors, such ...
Thomas S V - - 2008
We aimed to ascertain the prevalence of cardiac malformation (CM) and its association with antenatal exposure to an antiepileptic drug (AED) in infants of mothers with epilepsy (IMEs). Women with epilepsy (WWE) are enrolled in Kerala Registry of Epilepsy and Pregnancy (KREP) in the prepregnancy or early pregnancy period and ...
Green Ridgely Fisk - - 2008
PURPOSE: To assess usefulness of family history information obtained in pediatric practice, we evaluated maternally reported family history data. METHODS: We analyzed family history responses from the National Birth Defects Prevention Study using interview data from mothers of children with birth defects (n = 9,331) and of unaffected liveborn children ...
Byrne Julianne - - 2008
BACKGROUND: Previous studies suggested an excess of matrilineal cases of neural tube defects among distant relatives in NTD families. There is little information on patterns of heredity of other birth defects among distant relatives. METHODS: Between 1995 and 2003, 78 nuclear families and 373 uncles and aunts were interviewed about ...
Webb R T - - 2008
BACKGROUND: Few large studies describe links between maternal mental illness and risk of major birth defect in offspring. Evidence is sparser still for how effects vary between maternal diagnoses and no previous study has assessed risk with paternal illnesses. METHOD: A population-based birth cohort was created by linking Danish national ...
Jules Matthieu - - 2008
In the yeast Saccharomyces cerevisiae, the synthesis of endogenous trehalose is catalyzed by a trehalose synthase complex, TPS, and its hydrolysis relies on a cytosolic/neutral trehalase encoded by NTH1. In this work, we showed that NTH2, a paralog of NTH1, encodes a functional trehalase that is implicated in trehalose mobilization. ...
Källén Bengt - - 2007
The use of folic acid prior to conception is generally recommended for the prevention of birth defects, notably neural tube defects. In a previous study from Sweden, based on interviews of women in early pregnancy, no such effect was found on the general malformation rate, but data for neural tube ...
Jean-St-Michel Emilie - - 2007
A male infant presented at birth with severe coarctation of the aorta and marginal left ventricular and mitral valve dimensions associated with a large secundum atrial septal defect. Following successful arch repair, the left ventricle remained small with preferential left-to-right atrial shunting and a dilated right ventricle. Clinically, the infant ...
Copeland Glenn E - - 2007
BACKGROUND: Although birth defects are a leading cause of death in infancy and early childhood, the proportion of all deaths to children with clinically diagnosed birth defects is not well documented. The study is intended to measure the proportion of all deaths to infants and children under age 10 occurring ...
Cassell Cynthia - - 2007
BACKGROUND: Regardless of where infants and children are delivered, diagnosed, or treated, an important aspect of population-based birth defects surveillance is ensuring the inclusion of children with birth defects in the catchment area. However, little is known as to how the lack of interstate birth defects data exchange affects program ...
Shaw Gary M - - 2007
BACKGROUND: There is a paucity of information about risk factors for the human eye anomalies anophthalmia and microphthalmia. In this population-based case-control study we investigated whether periconceptional intakes of supplemental folic acid, dietary folate, vitamin A, and several other nutrients were associated with these eye defects. METHODS: This study included ...
Diab Karim A - - 2007
OBJECTIVE: Device closure of secundum atrial septal defects is sometimes needed in young children; however, little is known about the safety and outcome of this procedure in infants. In this study, the safety and efficacy of secundum atrial septal defect closure with the Amplatzer septal occluder (AGA Medical Corp, Golden ...
Tocheri Matthew W - - 2007
Whether the Late Pleistocene hominin fossils from Flores, Indonesia, represent a new species, Homo floresiensis, or pathological modern humans has been debated. Analysis of three wrist bones from the holotype specimen (LB1) shows that it retains wrist morphology that is primitive for the African ape-human clade. In contrast, Neandertals and ...
Nsibu N C - - 2008
We describe an infant girl with psychomotor retardation, growth retardation, mild facial dysmorphy, evidence of liver involvement and a type 2 pattern of serum sialotransferrins. Serum transferrin glycan analysis with MALDI-TOF showed an extremely altered N-glycan pattern with a large number of truncated asialoglycans pointing to a severely defective N-glycan ...
Romitti Paul A - - 2007
A major birth defect is an abnormality that can affect the structure or function of an organ. In the United States, major birth defects are the leading cause of infant mortality and contribute substantially to childhood disability and morbidity. Globally, these conditions lead to the death of millions of infants ...
Arnold Meghan A - - 2007
BACKGROUND: Gastroschisis is a congenital full-thickness abdominal wall defect characterized by the protrusion of intraabdominal organs outside the abdominal domain that requires surgical management in the early neonatal period. The goal of this study was to validate a previous risk stratification classification of infants born with this defect. METHODS: A ...
- - 2007
OBJECTIVES: Congenital diaphragmatic hernia is a significant cause of neonatal mortality. The objective of this study was to evaluate the clinical factors associated with death in infants with congenital diaphragmatic hernia by using a large multicenter data set. METHODS: This was a prospective cohort study of all liveborn infants with ...
Duke C Wes - - 2007
We assessed fetal death certificates (FDCs) as a source of surveillance for stillbirths with birth defects by linkage with data from the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based birth defects surveillance system. Stillbirths with defects in MACDP were identified from 1994 through 2002 and linked to FDCs. Sensitivity ...
O'Rahilly Ronan - - 2007
The first systematic account of the neural crest in the human has been prepared after an investigation of 185 serially sectioned staged embryos, aided by graphic reconstructions. As many as fourteen named topographical subdivisions of the crest were identified and eight of them give origin to ganglia (Table 2). Significant ...
Gotoh Tetsuya - - 2007
In mammalian cells, E-type cyclins (E1 and E2) are generally believed to be required for entry into S phase. However, in mice, cyclin E is largely dispensable for normal embryogenesis. Moreover, Drosophila cyclin E plays a critical role in cell fate determination in neural lineages independently of proliferation. Thus, the ...
Chiong M A - - 2007
A newborn female presented on the first day of life with clinical and biochemical findings consistent with multiple acyl-CoA dehydrogenase deficiency (MADD). Riboflavin supplementation corrected the biochemical abnormalities 24 h after commencing the vitamin. In vitro acylcarnitine profiling in intact fibroblasts both in normal and riboflavin depleted media showed normal ...
Wurst K E - - 2007
OBJECTIVE: The purpose of this research was (1) to validate that ventricular septal defect (VSD), tetralogy of Fallot (TOF), and coarctation of the aorta (COA) can be studied in the UK General practice research database (GPRD) and (2) to understand which of the available GPRD components (computerized medical records, questionnaires, ...
Waller D Kim - - 2007
OBJECTIVE: To describe the relation between maternal obesity, overweight and underweight status, and 16 categories of structural birth defects. DESIGN: An ongoing multisite, case-control study. Clinical geneticists reviewed all of the cases, excluding those that had or were strongly suspected to have a single-gene disorder or chromosomal abnormality. Mothers with ...
Mossey Peter - - 2007
Epidemiological information gathered through birth defects surveillance is an important adjunct to carrying out clinical and aetiological research. Information on the incidence in the population, causative risk factors and providing baseline data prior to intervention are all important elements. Under the auspices of the World Health Organisation, it was agreed ...
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