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Results 201 - 250 of 1012
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Nikkilä Annamari - - 2006
BACKGROUND: Many studies have been conducted on the accuracy of prenatal ultrasound diagnosis of foetal CNS-malformations. These studies were mostly hospital-based or, sometimes, multicentre studies. We present here a population-based study of the prenatal diagnosis of spina bifida in Sweden over a period of 31 years. METHODS: We compared the ...
Eide Martha G - - 2006
Infants born with birth defects have poorer outcomes in terms of mortality and disability, but the long-term intellectual outcome in children with birth defects is generally unknown. We assessed the long-term associations of various birth defects with mortality and disability, and evaluated whether high mortality and disability were reflected in ...
Reutter Heiko - - 2006
Apart from Husmann and Vandersteen [in: Gearhart JP, Matthews R (eds) The Epispadias-Exstrophy Complex. Kluwer, New York, pp 199-206, 1999], we report only the second case of Down syndrome (DS) associated with exstrophy of the bladder (EB). Besides the appearance of DS, the newborn exhibited a complete atrioventricular canal (CAVC) ...
Zhou Huiqing - - 2006
In higher eukaryotes, the large subunit of the general transcription factor TFIIA is encoded by the single TFIIAalphabeta gene and posttranslationally cleaved into alpha and beta subunits. The molecular mechanisms and biological significance of this proteolytic process have remained obscure. Here, we show that TFIIA is a substrate of taspase ...
Mellander Mats - - 2006
AIM: To determine what proportion of newborns with critical heart defects are discharged undiagnosed from the maternity ward. METHODS: Data were retrieved retrospectively for infants born in our referral area from 1993 to 2001 and undergoing surgical or catheter-based intervention before 2 mo of age because of critical heart defects. ...
Brender Jean D - - 2006
The authors describe methods for linking birth certificate and birth defect registry data to potential environmental hazards and assess potential confounding factors. Cases of selected birth defects from the Texas Birth Defects Registry were linked to their respective birth/ fetal death records. Comparison births were randomly selected from the 1996-2000 ...
Norman Mikael - - 2006
Detection of severe heart defects without unnecessary delay is a primary task for providers of infant care. Screening is challenged by the fact that a normal physical examination after birth does not exclude severe defects. Shorter hospital stay for newborn infants and a reduced number of examinations may further hamper ...
Carbone P - - 2006
The aim of the study was to explore the role of environmental exposures to pesticides in the birth prevalence of hypospadias and cryptorchidism, in the 12 agricultural municipalities of Ragusa Sicily. Data on the birth prevalence of the two birth defects were obtained from the local pediatric services for the ...
Bol Kirk A - - 2006
OBJECTIVE: Neural tube defects (NTDs) are preventable through preconceptional and periconceptional folic acid intake. Although decreases in the prevalence of NTDs have been reported since folic acid fortification of United States grain products began, it is not known whether folic acid plays a role in reducing the severity of occurring ...
Tegnander E - - 2006
OBJECTIVES: To evaluate the detection rate of congenital heart defects (CHD) in a non-selected population and to follow outcome after diagnosis. METHODS: All 30,149 fetuses/newborns that were scheduled to deliver at our hospital between February 1991 and December 2001 were registered prospectively. Of these, 29,460 (98%) fetuses had a prenatal ...
Forrester Mathias B - - 2006
BACKGROUND: Population-based epidemiologic data on anophthalmia and microphthalmia in the United States are limited and have come mainly from only a few states. The intent of this study was to report on the epidemiology of these eye defects. METHODS: Cases were derived from a population-based birth defects registry in Hawaii ...
Gilboa Suzanne M - - 2006
Our population-based case-control study of air quality and birth defects in Texas relied on the geocoding of maternal residence from vital records for the assignment of air pollution exposures during early pregnancy. We attempted to geocode the maternal addresses for 5,338 birth defect cases and 4,574 frequency-matched controls using an ...
- - 2006
Continuing efforts are needed to improve surveillance for birth defects, which are the leading cause of infant mortality in the United States. Although state and local surveillance data indicate that approximately 3% of births are affected by any of 45 birth defects, no national estimates based on population-based birth defects ...
Zhu Lirong - - 2006
The past decade has seen remarkable advances in defining the molecular mechanisms underlying formation of the embryonic left right (LR) axis. This information is slowly transforming our understanding of human birth defects that are caused by disturbed LR axis patterning. Reversals, isomerisms, or segmental discordances of thoraco-abdominal organ position, that ...
Beckerman Adela - - 2006
This study focuses on the incidence of birth defects among children born to Haitian women in Florida. Analysis of comparative data collected by the Florida Birth Defects Registry indicates a disproportionate rate of birth defects among babies born to Haitian women. Sociocultural and economic characteristics of the Haitian community and ...
Goc Barbara - - 2006
The study aimed to analyse the clinical courses of aggressively treated neonates with cytogenetically confirmed trisomy 18, with special attention focused on the efficiency of prenatal diagnostics, associated malformations, therapeutic dilemmas and outcomes. We investigated retrospectively the data concerning 20 neonates with trisomy 18, admitted to the Neonatal Intensive Care ...
Tang Yiwei - - 2006
OBJECTIVES: To determine if multiple births have higher risks of birth defects compared to singletons and to identify types of birth defects that occur more frequently in multiple births, controlling for seven sociodemographic and health-related variables. METHODS: A retrospective cohort study was conducted of all resident live births in Florida ...
Riley Merilyn - - 2006
The Victorian Birth Defects Register (VBDR) is a population-based surveillance system with a primary function of monitoring trends in birth defects. This paper outlines the processes undertaken in Victoria, Australia, to obtain population prevalence rates of birth defects and investigates the effect on the prevalence rates of variations in collection ...
Forrester Mathias B - - 2005
Because of studies suggesting that folic acid use reduces risk of various birth defects, the Unites States fortified enriched cereal grains with folic acid in 1998. To determine whether this fortification reduced rates for birth defects in Hawaii, rates were calculated before and after fortification. Of the 19 birth defects ...
Parkman Sharon E - - 2005
The purpose of this study was to describe a population of infants undergoing cardiac surgery at a regional tertiary medical center and the relationship between age, weight, number of other diagnoses, and length of stay in the hospital and presence of complications. Nearly two thirds of the infants in the ...
Tanner Kirsty - - 2005
OBJECTIVE: Preterm birth and cardiovascular malformations are the 2 most common causes of neonatal and infant death, but there are no published population-based reports on the relationship between them. We undertook this study to determine the prevalence and spectrum of cardiovascular malformations in a preterm population, the prevalence of prematurity ...
Schieve Laura A - - 2005
Studies of assisted reproductive technology (ART) and birth defects must be scrutinized and appropriately interpreted in the context of their limitations. The recent findings reported by Klemetti et al. are compelling, given the study's many strengths, and add to the accumulating evidence suggestive of an association between ART and birth ...
Klusmann Anne - - 2005
BACKGROUND/AIM: Neural tube defects (NTDs) are the most common birth defects, resulting in severe mortality and morbidity. In 1995, the supplementation of folic acid periconceptionally was officially recommended in Germany. The impact of the recommendations on the rate of NTDs was assessed. METHODS: An active surveillance system was established in ...
Renzetti G - - 2005
We offer further biological characterization of the XK atelen/aprosencephaly syndrome in two infants, one with prolonged survival, the other presenting prenatally with apparent hydranencephaly and an orbital tumor (OS). Familial occurrence in the former born to presumably nonconsanguineous Lybian parents may represent parental germinal mosaicism or autosomal recessive inheritance. Both ...
Frohnert Barbara Kathleen - - 2005
OBJECTIVE:To examine validity of the International Classification of Diseases, 9th Edition, Clinical Modification (ICD-9-CM) codes in discharge data for identifying infants with cardiac defects according to surveillance guidelines. STUDY DESIGN:Retrospective medical record review of infants born in 2001 at one hospital in Minneapolis, Minnesota. Infants were identified using ICD-9-CM codes ...
Tan K H - - 2005
INTRODUCTION: To study characteristics of birth defect cases among live births, stillbirths and abortions in Singapore between 1994 and 2000. METHODS: Index cases for the National Birth Defects Registry (NBDR) were obtained from all neonatal nurseries in Singapore, all hospital discharge summaries, cytogenetic and pathology reports from all pathology laboratories ...
Ratan Simmi K - - 2005
A 2-day-old male infant, born of a non-consanguineous marriage and uneventful pregnancy was found to have anomalies of vertebral, anal, cardiac, tracheo-esophageal, radial and limb (VACTERL) association. The striking feature was the simultaneous occurrence of two rare limb defects of right upper and lower limb in the baby who also ...
Canfield Mark A - - 2005
BACKGROUND: Observational studies and clinical trials have suggested that periconceptional use of folic acid can reduce the risk of birth defects other than neural tube defects (NTDs). Using data reported by states to the National Birth Defects Prevention Network, we examined whether folic acid fortification might have decreased the prevalence ...
Noraihan M N - - 2005
The objective of the study is to determine the proportion and different types of birth defects among the children born in Hospital Kuala Lumpur. A cross-sectional study was conducted for a period of 18 months where all consecutively born infants, dead or alive were included. There were total of 34,109 ...
Raichlen David A - - 2005
Primates have more distally distributed limb muscle mass compared to most nonprimate mammals. The heavy distal limbs of primates are likely related to their strong manual and pedal grasping abilities, and interspecific differences in limb mass distributions among primates are correlated with the amount of time spent on arboreal supports. ...
Baez E - - 2005
OBJECTIVE: To investigate whether pulsatility of ductus venosus (DV) flow velocity waveforms is of diagnostic value in predicting survival in fetuses with congenital heart disease (CHD). METHODS: In a cross-sectional study, Doppler investigation of DV and umbilical artery blood flow was performed in 58 fetuses with isolated structural CHD, without ...
Kunz Liza H - - 2005
OBJECTIVE: The purpose of this study was to determine the incidence of congenital heart defects (CHD) in infants with gastroschisis. STUDY DESIGN: Infants with gastroschisis repair were identified from California hospital discharge data during the years 1992 to 1997. The frequency of concomitant diagnosis of CHD and other demographic, neonatal, ...
Casteels I - - 2005
We report a case of unilateral Peters' anomaly in a 3-month-old infant with a microdeletion in chromosome 22q11.2, a finding not previously described. This anterior segment anomaly can be explained by a problem in neural crest development, as neural crest cells are known to play a role in the developmental ...
Cedergren Marie I - - 2006
OBJECTIVE: To evaluate whether pregnancies with infants affected by congenital heart defects are associated with adverse obstetric and perinatal outcome. STUDY DESIGN: In a prospective population-based cohort study from Sweden (1992-2001), 6346 singleton pregnancies with infants affected by congenital heart defects were, after suitable adjustments, compared to all delivered women. ...
Shaw Gary M - - 2005
There is a paucity of epidemiologic information about the eye malformations anophthalmia and microphthalmia. Using data from a large population-based registry, we explored prevalences and maternal/infant characteristics associated with anophthalmia and bilateral microphthalmia. Data were derived from the California Birth Defects Monitoring Program, a population-based active surveillance system for collecting ...
Ulualp Seckin O - - 2005
OBJECTIVE: To evaluate temporal bone histopathology in infants with congenital heart defects (CHD). STUDY DESIGN AND SETTING: A retrospective review of our temporal bone collection was conducted to identify temporal bones acquired from infants with CHD. Subjects were divided into nonsyndromic and syndromic CHD groups. The presence of temporal bone ...
Shah Maulik - - 2005
BACKGROUND: Since it's recognition in 1981, a more complete phenotype of Kabuki syndrome is becoming evident as additional cases are identified. Congenital heart defects and a number of visceral abnormalities have been added to the typical dysmorphic features originally described. CASE REPORT: In this report we describe the clinical course ...
Yuskiv Nataliya - - 2005
The purpose of this case-control study was to determine whether multivitamin use is associated with the occurrence of multiple congenital anomalies (MCA). MCA case-infants were infants with two or more major birth defects affecting at least two different organ systems, with no recognized chromosome abnormality or single gene disorder. Control-infants ...
Aqrabawi H E - - 2005
Neural tube defects (NTDs) are important factors in fetal and infant mortality. There have been no studies on the incidence of NTDs in Jordan. A one-year prospective study was therefore conducted in King Hussein Medical Centre neonatal unit (April 2002-April 2003) to determine the incidence of NTDs among Jordanian neonates. ...
Bourke Jenny - - 2005
Summary highlighted the contribution of birth defects. Over this time there has also been an increasing number of terminations of pregnancy for fetal abnormality. However, the effect of these terminations on mortality rates in Australia has not yet been estimated. The Western Australian Birth Defects Registry (BDR) records all birth ...
Mahadevan B - - 2005
OBJECTIVE: This study was carried out to identify the trend and the frequency of neural tube defects from July 1998 to June 2004. METHODS: A total of 310 babies were born with neural tube defects with the overall frequency of 5.7/1000 births compared to 2.3/1000 births observed earlier in our ...
Kappen Claudia C Department of Genetics, Cell Biology and Anatomy, Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha 68198-5455, USA. - - 2005
Supplementation of a pregnant mother's diet with folate has been shown to protect the developing embryo from birth defects in humans as well as rodent animal models. Folate supplementation not only reverses a potential nutritional deficiency; folate effectively prevents defects even when the mother's nutritional status is normal. These findings ...
Cotter Amanda M - - 2005
OBJECTIVE: Severe neural tube defects (NTDs) tend to occur with disproportionate frequency in areas of high prevalence. The objective of our study was to determine the birth prevalence of NTDs during a 25-year period at a single institution based in an area of high prevalence for NTDs and to investigate ...
Brun Henrik - - 2005
We describe an infant with an atrioventricular septal defect and separate valvar orifices for the right and left ventricles, the so-called primum defect, who presented with serious pulmonary hypertension. Treatment with sildenafil was changed to intravenous epoprostenol due to lack of any measurable effects of the initial therapy as shown ...
Lisi Alessandra - - 2005
The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or syndromic. We selected cases of 26 major defects (n ...
Cunnington Marianne - - 2005
To report the frequency of major malformations in lamotrigine-exposed pregnancies from September 1, 1992, through March 31, 2004, in the International Lamotrigine Pregnancy Registry. Health care professionals throughout the world can voluntarily enroll lamotrigine-exposed pregnancies in this observational study. Only pregnancies with unknown outcomes at the time of enrollment were ...
Detrait Eric R - - 2005
Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are the second most common type of birth defect after congenital heart defects. The most common presentations of NTD ...
Thong M K - - 2005
Birth defects are one of the leading causes of paediatric disability and mortality in developed and developing countries. Data on birth defects from population-based studies originating from developing countries are lacking. One of the objectives of this study was to determine the epidemiology of major birth defects in births during ...
Bates Alan William - - 2005
The incidence and associations of axial segmentation defects were examined in a series of perinatal autopsies. Variations in vertebral morphology (whether changes in overall numbers or homeotic transformations from one morphological type to another) and of number of well-formed ribs were common, and both were associated with extraskeletal malformations. Rudimentary ...
Botto Lorenzo D - - 2005
To evaluate the effectiveness of policies and recommendations on folic acid aimed at reducing the occurrence of neural tube defects. Retrospective cohort study of births monitored by birth defect registries. 13 birth defects registries monitoring rates of neural tube defects from 1988 to 1998 in Norway, Finland, Northern Netherlands, England ...
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