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Parisi Pasquale - - 2007
Vigabatrin (VGB), a selective irreversible inhibitor of gamma-aminobutyric acid transaminase, has proved to be effective against cryptogenic and symptomatic infantile spasms (IS). Unfortunately, reports of serious visual field defects have led to a drastic reduction in the use of the drug. This review is based on a systematic search in ...
Collins Sonya R - - 2007
Rates of the major congenital abdominal wall defects gastroschisis and omphalocele have been shown to be increasing over the past 10 to 20 years. Although much of the increase was seen in the 1970s and 1980s, there has been conflicting evidence as to whether similar trends exist for more recent ...
Zhang Jun - - 2007
Epidemiological studies suggest that partner change may affect perinatal outcomes in subsequent pregnancies. We conducted a systematic review on the association between paternity change and perinatal outcomes. We searched the literature in MEDLINE using keywords 'paternity', 'partner', 'pre-eclampsia', 'preterm birth', 'low birth weight', and 'birth defects' from 1966 to 2005. ...
Alwan Sura - - 2007
BACKGROUND: Information regarding the safety of selective serotonin-reuptake inhibitors (SSRIs) in human pregnancy is sparse. Concern has been raised about the risk of congenital heart defects associated with the use of SSRIs in pregnancy. METHODS: We obtained data on 9622 case infants with major birth defects and 4092 control infants ...
Golalipour M J - - 2007
We determined the rates of neural tube defects at a referral hospital in Gorgan, north Islamic Republic of Iran, and the relations of these abnormalities to sex, maternal ethnicity, maternal age and season. During 1998-2003, there were 109 cases among 37 951 births, a prevalence of 28.7 per 10000 (24.8 ...
Chai Toby C - - 2007
There is a high prevalence of lower urinary tract symptoms (LUTS) in the adult population, afflicting both genders. LUTS can be thought of as a chronic hypersensory condition of the bladder. The treatment of LUTS remains largely empiric based on incomplete understanding of pathophysiology and lack of clinically effective measurement ...
Liu Yu-Yin - - 2007
Cor triatriatum (CT) is a rare cardiac anomaly, characterized by a membrane in the left atrium which separates the atrium into the proximal and distal chambers. Association of CT with atrioventricular septal defects (AVSD) is extremely rare; only three cases with complete AVSD and 10 with partial AVSD have been ...
Russo Rosa - - 2007
This report is a neuropathological description of posterior cerebellar vermis agenesis/hypoplasia at midgestation. This defect was demonstrated by prenatal ultrasound in four 21- to 24-week-old fetuses. Neuropathological findings were characterized macroscopically by hypoplasia of the posterior vermis with normal cerebellar hemispheres and brainstem; hypoplasia of the posterior vermian lobules 6 ...
Gambol Patricia J - - 2007
Well-established dietary protocols have prevented mental retardation for infants born with phenylketonuria (PKU). Dietary protocols for managing females with PKU in their reproductive years exist but are not followed by most of them. Infants who are born to mothers with PKU who are not on dietary treatment usually have serious ...
Yuzuriha Hideki - - 2007
Gastrointestinal (GI) hormones play an important role in GI secretion, motility, and eating behaviors. It was recently suggested that GI hormones may have a trophic role in GI tract. Here we demonstrate that two principal GI hormones, anorexigenic peptide YY (PYY) and orexigenic ghrelin, affect neural tube development. Chronic administration ...
Malik Sadia - - 2007
OBJECTIVES: Infants with congenital heart defects may experience inhibited growth during fetal life. In a large case-control study, we addressed the hypothesis that infants with congenital heart defects are more likely to be small for gestational age than infants without congenital heart defects after controlling for selected maternal and infant ...
Watts D Heather - - 2007
BACKGROUND: To evaluate rate and types of birth defects according to timing of antiretroviral exposure among babies born to HIV-infected women. METHODS: Anomalies identified during the prenatal, neonatal, or follow-up period were classified using criteria of the Antiretroviral Pregnancy Registry. Antiretroviral use was classified as none, second or third trimester ...
Leeder J S - - 2007
Approximately 3% of all infants are born with one or more major birth defects, resulting in >150,000 affected babies each year in the US alone. At present, birth defects account for more than 21% of all infant deaths, making them the leading cause of infant mortality. Although the etiology and ...
Calvert Geoffrey M - - 2007
There is little evidence linking adverse reproductive effects to exposure to specific pesticides during pregnancy. In February 2005, three infants with congenital anomalies were identified in Collier County, Florida, who were born within 8 weeks of one another and whose mothers worked for the same tomato grower. The mothers worked ...
Qing Ma - - 2007
OBJECTIVES: The response to hypoxia is primarily mediated by the transcription factor hypoxia-inducible factor-1 (HIF-1) which leads to the induction of a variety of adaptive gene products including vascular endothelial growth factor (VEGF) and endothelial nitric oxide synthase (eNOS). This study was designed to test the hypothesis that HIF-1 and ...
Lim D Scott - - 2007
Atrial septal defects are a common congenital heart defect and may complicate the course of a premature infant by imposing volume overload to the lungs. Surgical closure requires cardiopulmonary bypass and, frequently, a midline sternotomy. Recently, percutaneous transcatheter devices were approved for atrial septal defect closure but have been limited ...
Li Yin-Xiong - - 2007
Consumption of alcohol by pregnant women can cause fetal alcohol spectrum defects (FASD), a congenital disease, which is characterized by an array of developmental defects that include neurological, craniofacial, cardiac, and limb malformations, as well as generalized growth retardation. FASD remains a significant clinical challenge and an important social problem. ...
Chang Mu-Hsin - - 2007
BACKGROUND: Our previous studies showed serum insulin-like growth factor-I (IGF-I) concentrations significantly decreased in infants with congenital ventricular septal defect (VSD) and that they were associated with increased concentrations of growth hormone. In order to confirm the relationship between IGF-I axis and VSD, we further compared the IGF-I and insulin-like ...
Shaw Gary M - - 2007
BACKGROUND: We investigated whether infants with homozygous genotype TT of the MTHFR gene were at increased risk of severe mental retardation. METHODS: One hundred children with severe mental retardation (cases) were investigated from a large geographic-based study of infants born in California in 1992-1993. Cases were compared to 743 randomly ...
Freeman Sallie B - - 2007
OBJECTIVE: The National Down Syndrome Project (NDSP), based at Emory University in Atlanta, Georgia, represents a multi-site, population-based, case-control study with two major aims: (1) to identify molecular and epidemiological factors contributing to chromosome nondisjunction and the consequent packaging of an extra chromosome into an egg or sperm, and (2) ...
Tagliabue Giovanna - - 2007
BACKGROUND: Birth defects are a leading cause of neonatal and infant mortality in Italy, however little is known of the etiology of most defects. Improvements in diagnosis have revealed increasing numbers of clinically insignificant defects, while improvements in treatment have increased the survival of those with more serious and complex ...
Rose David W - - 2007
Dr. Robert A. Good and the March of Dimes Birth Defects Foundation maintained a close association for a quarter century in the fight against immunodeficiency diseases. The March of Dimes, whose mission is to prevent birth defects, premature birth, and infant mortality, awarded an initial grant to Dr. Good in ...
Forrester Mathias B - - 2007
The literature on the association between prenatal illicit drug use and birth defects is inconsistent. The objective of this study was to determine the risk of a variety of birth defects with prenatal illicit drug use. Data were derived from an active, population-based adverse pregnancy outcome registry. Cases were all ...
Spitz Lewis - - 2007
Oesophageal atresia (OA) encompasses a group of congenital anomalies comprising of an interruption of the continuity of the oesophagus with or without a persistent communication with the trachea. In 86% of cases there is a distal tracheooesophageal fistula, in 7% there is no fistulous connection, while in 4% there is ...
Kuo John S - - 2007
We present a 9-month-old neurologically normal infant with cutaneous markers for a closed neural tube defect consisting of two sacral dimples and associated tuft of hair. Magnetic resonance imaging showed that her spinal cord was tethered at S2 and associated with a large syrinx. A myelotomy was performed to address ...
Batra Maneesh - - 2007
OBJECTIVE: Ventricular septal defect (VSD) is currently the most common congenital cardiac malformation in the United States, but little is known about its etiology. The objective of this study was to address the hypothesis that parents' residence in eastern Washington, a region heavily dominated by the agricultural industry, and employment ...
Strickland Matthew J - - 2007
The Metropolitan Atlanta Congenital Defects Program (MACDP) collects maternal address information at the time of delivery for infants and fetuses with birth defects. These addresses have been geocoded by two independent agencies: (1) the Georgia Division of Public Health Office of Health Information and Policy (OHIP) and (2) a commercial ...
Yang Q - - 2007
BACKGROUND: Although the association between maternal age and the risks of birth defects has been well studied, the evidence from population data linking paternal age with birth defects was limited and inconsistent. METHODS: We conducted a population-based retrospective cohort study of 5,213,248 subjects from the 1999-2000 birth registration data of ...
Forrester Mathias B - - 2006
Using birth defects registry data, this study examined whether deliveries to residents and non-residents differed. The non-resident rate was significantly higher among those infants/fetuses with more than one major birth defect, pregnancy outcomes that did not result in live births, multiple births, deliveries in the City and County of Honolulu, ...
Boulet Sheree L - - 2006
BACKGROUND: Nationally representative data on the prevalence of certain birth defects are largely unavailable. We evaluated the feasibility of using data from the National Hospital Discharge Survey (NHDS) to describe the prevalence of selected birth defects. METHODS: All live births recorded in the NHDS during 1999-2001 were included. The prevalence ...
Wang Ying - - 2006
BACKGROUND: The limitations and underlying assumptions of the capture-recapture methods have hindered their application in epidemiological settings, especially in evaluating the completeness of birth defects registries. This study explored the possibility of using birth certificates as the secondary data source in a simple two-source capture-recapture model to estimate the completeness ...
Canfield Mark A - - 2006
BACKGROUND: In the United States, birth defects affect approximately 3% of all births, are a leading cause of infant mortality, and contribute substantially to childhood morbidity. METHODS: Population-based data from the National Birth Defects Prevention Network were combined to estimate the prevalence of 21 selected defects for 1999-2001, stratified by ...
Bird T M - - 2006
BACKGROUND: The Healthcare Cost and Utilization Project (HCUP) family of hospital discharge databases offer an unprecedented opportunity to generate national estimates of newborn infants with birth defects. This report estimates national hospital admissions for newborn infants diagnosed with birth defects computed from HCUP and compares them to pooled prevalence figures ...
Abdullah F F Division of Pediatric Surgery, Center for Pediatric Surgery Outcomes Research, Johns Hopkins University School of Medicine, Baltimore, MD 21287-0005, USA. - - 2007
Gastroschisis is a rare congenital abdominal wall defect through which intraabdominal organs herniate and it requires surgical management soon after birth. The objectives of this study were to profile patient characteristics of this anomaly utilizing data from two large national databases and to validate previous risk stratification categories of infants ...
Checchi Paula M - - 2006
In C. elegans, germline blastomeres are initially kept transcriptionally quiescent by the maternally loaded CCCH zinc-finger protein PIE-1. PIE-1 disappears upon the birth of the primordial germ cells Z2 and Z3, yet these cells appear to remain quiescent. We have previously demonstrated that there is a chromatin-based repression that succeeds ...
Hansen M - - 2007
BACKGROUND: National assisted reproductive technology (ART) data collections that rely on practitioners' reports of birth defects have consistently reported lower proportions of children with birth defects than record linkage studies that link ART infants to birth and malformation registers. METHODS: We compared the birth defect data reported to the national ...
Wu Yvonne W YW Department of Neurology, University of California, San Francisco, California 94143-0137, USA. - - 2006
We examined the possible association between infertility and spinal neural tube defects (NTDs). This is a nested case-control study within the Kaiser Permanente Medical Care Program (KPMCP) in Northern California. Among a birth cohort of 110,624 singleton infants > or = 36 weeks gestation, 1994-1997, we electronically identified cases of ...
Eriksson Per - - 2006
The present study shows that polybrominated diphenyl ethers (PBDEs) and polychlorinated biphenyls (PCBs) can interact and enhance developmental neurobehavioral defects when the exposure occurs during a critical stage of neonatal brain development. PBDEs are used in large quantities as flame-retardant additives in polymers, especially in the manufacture of a great ...
Carmichael Suzan L - - 2006
Increasing epidemiologic evidence suggests that genetic susceptibilities contribute to birth defects risks, especially in combination with other environmental exposures. This analysis examines the association of risk of limb deficiency defects with infant genotypes for N-acetyltranferases (NAT1, NAT2), glutathione-S-tranferases (GSTT1, GSTM1), and endothelial nitric oxide synthase (NOS3). The combined effects of ...
McNair Carol - - 2006
An omphalocele, a ventral defect of the umbilical ring resulting in herniation of the abdominal viscera, is one of the most common congenital abdominal wall defects seen in the newborn. Omphaloceles occur in 1 in 3000 to 10,000 live births. Associated malformations such as chromosomal, cardiac, or genitourinary abnormalities are ...
Vallino-Napoli Linda D - - 2006
OBJECTIVE: To describe the epidemiological characteristics of oral clefts occurring with other birth defects in Victoria, Australia. METHODS: Information on infants and fetuses reported to the Victorian Birth Defects Register from 1983 to 2000 was collected. Birth defects were classified as Pierre Robin Sequence, chromosomal anomaly, nonchromosomal syndrome, single-system defect, ...
Pont Stephen J - - 2006
Trisomy 18 and trisomy 13 are associated with serious and/or fatal birth defects, with death frequently occurring in the first month of life. Previous studies are limited by small samples and are dated. This study characterized the comorbid birth defects associated with trisomy 18 and trisomy 13 among US liveborn ...
Hyvola Noora - - 2006
The X-linked disorder oculocerebrorenal syndrome of Lowe is caused by mutation of the OCRL1 protein, an inositol polyphosphate 5-phosphatase. OCRL1 is localised to the Golgi apparatus and early endosomes, and can translocate to lamellipodia upon growth factor stimulation. We show here that OCRL1 interacts with several members of the rab ...
Vijay S - - 2006
Carnitine transporter defect (CTD) is an autosomal recessive disorder characterized by episodes of non-ketotic hypoglycaemia, hyperammonaemia and liver disease, or by the development of cardiomyopathy, both of which occur in infancy and childhood. Blood carnitine concentrations are extremely low. The diagnosis can be confirmed by finding abnormal fat oxidation and ...
Bittles Alan H AH Centre for Human Genetics, Edith Cowan University, 100 Joondalup Drive, Perth WA 6027, Australia. - - 2007
Down syndrome (DS) affects approximately 1 per 650-1000 live births and is the most common known genetic cause of intellectual disability. A highly significant change in the survival of people with DS has occurred during the last two generations, with life expectancy estimates increasing from 12 to nearly 60 years ...
Yunis Khalid - - 2006
The independent effect of consanguinity on the prevalence of congenital heart defects (CHDs), all and specific types, was investigated in newborns admitted to nine hospitals located in Beirut, Lebanon and members of the National Collaborative Perinatal Neonatal Network (NCPNN). Cases were 173 newborns admitted to the Neonatal Intensive Care Units ...
Bower Carol - - 2006
OBJECTIVES: To investigate whether maternal periconceptional folate intake is associated with a reduction in selected non-neural birth defects in Western Australia (WA). METHODS: Case-control study of folate intake in women whose infants had orofacial clefts (62); congenital heart defects (151); urinary tract defects (117); limb reduction defects (26); or other ...
Bower Carol - - 2006
This paper reviews the role of the Western Australian Birth Defects Registry in the primary prevention of neural tube defects. The Registry provides complete and up-to-date information on all neural tube defects (NTD), including terminations of pregnancy. These data have been used to determine a baseline rate of NTD and ...
Forrester Mathias B - - 2006
The objective of this investigation was to identify the rates for specific birth defects among the offspring of Japanese mothers in Hawaii and compare them to rates among the offspring of white mothers. Cases were all infants and fetuses with any of 54 specific birth defects born to Japanese and ...
Vogt Gábor - - 2006
We studied the possible etiological factors of isolated primary congenital glaucoma (IPCG) using data from the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-2002. The study group consisted of 52 cases with IPCG compared to 52 matched control pairs without any defects, and 22,744 malformed controls with non-ocular defects and 37,837 ...
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