Search Results
Results 251 - 300 of 1012
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Davidson Natasha - - 2005
Historical data show that in Victoria birth defects have accounted for approximately 25% of all perinatal deaths. Terminations of pregnancies (TOPs) for birth defects occurring at > or =20 weeks gestation are included in the population-based perinatal data collection. These are classified as stillbirths or neonatal deaths. Some would have ...
Vogt Gábor - - 2005
The purpose of the study was to reveal the etiological factors in the origin of isolated an/microphthalmia. The dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-2002 containing 56 cases with isolated an/microphthalmia and 22,744 malformed controls with other non-ocular defects from the Hungarian Congenital Abnormality Registry, in addition ...
Alkuraya Fowzan S - - 2005
Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare trisomy in humans with a characteristic phenotype. We report an infant with the characteristic CT8M phenotype in addition to heterotaxia. A number of chromosomal abnormalities have been reported in association with laterality defects but this is the first time heterotaxia is ...
van Dooren Marieke - - 2005
BACKGROUND: Two severe birth defects, congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) with or without tracheoesophageal fistula (TEF), have traditionally been analyzed separately in epidemiological studies. Lung hypoplasia (LH), part of the CDH spectrum, is not usually associated with EA/TEF, yet both are foregut malformations. METHODS: We conducted an ...
Rittler Monica - - 2004
BACKGROUND: Currently, all developed countries include rubella vaccination in their immunization programs, targeting the complete elimination of congenital rubella syndrome (CRS). In the underdeveloped world, where this severely disabling condition still exists, only a few countries have implemented vaccination policies, and almost no data on their effectiveness or on prevalence ...
Parvathy Usha - - 2004
Infants with atrial septal defects are seldom symptomatic and usually require elective surgery between 2 and 4 years of age. However a small minority is symptomatic and management at this age has been controversial. This study evaluated surgical closure of atrial septal defect below 2 years of age. Eighteen infants ...
Samson Gregory R - - 2004
OBJECTIVES: To estimate the incidence of, and profile the spread of, congenital cardiac defects, and to assess the accuracy of the echocardiographic diagnosis as performed by a neonatologist. DESIGN: Hospital-based study. METHODS: All neonates meeting our criterions, specifically those with a persistent murmur 48 hours after birth, underwent an echocardiographic ...
Hansen Michèle - - 2005
BACKGROUND: The risk of birth defects in infants born following assisted reproductive technology (ART) treatment is a controversial question. Most publications examining the prevalence of birth defects in ICSI and IVF infants compared to spontaneously conceived infants have serious methodological limitations; despite this, most researchers have concluded that there is ...
Arbour L - - 2004
OBJECTIVES: Birth defects occur in all ethnic groups, remaining an important world-wide cause of perinatal and infant morbidity. This contributes greatly to an excess of health care dollars allocated to the care and repair of those affected. This is especially true when those affected live in remote geographical locations. STUDY ...
Banky J P - - 2004
Epidermolytic hyperkeratosis (EH) is an abnormality of epidermal maturation, most commonly due to mutations in keratins 1 and 10, which may be a congenital or an acquired defect. The term epidermolytic acanthoma was applied to a solitary discrete epidermal proliferation characterized by EH. Subsequently there have been several reports of ...
Cunniff Christopher - - 2004
The pediatrician who cares for a child with a birth defect or genetic disorder may be in the best position to alert the family to the possibility of a recurrence of the same or similar problems in future offspring. The family may wish to know about and may benefit from ...
Chia S-E - - 2004
We sought to study the association between some common birth defects and parental occupations. The live births and congenital malformation born between January 1994 and December 1998 were obtained from the Singapore National Registry of Births and Deaths (the National Birth Defect Registry). The prevalence of overall birth defects among ...
Mimasaka Sohtaro - - 2004
A 50-year-old male died following a road traffic accident. Postmortem examination revealed that the injuries caused by the accident did not seem to have caused his death. A large ostium primum defect was found, with bridging leaflets attached to the interventricular septum. In this article, we present a case of ...
Forrester Mathias B - - 2004
Rates for many birth defects have not been identified for native Hawaiians. Using birth defects regstry data, the total major birth defect rate for whites was found to be 4.70% and for native Hawaiians was 4.75%. After adjusting for maternalage, the rates were lower among native Hawaiians for 40 (74.1%) ...
Covington Deborah L - - 2004
This paper describes the Antiretroviral Pregnancy Registry's (APR) monitoring and analysis plan. APR is overseen by a committee of experts in obstetrics, pediatrics, teratology, infectious diseases, epidemiology and biostatistics from academia, government and the pharmaceutical industry. APR uses a prospective exposure-registration cohort design. Clinicians voluntarily register pregnant women with prenatal ...
Stokowski Laura A - - 2004
Hypospadias is a common developmental disorder of the urogenital tract, occurring in approximately 1 in 125 live male births. Defined as an atypical urethral opening anywhere along the shaft of the penis, scrotum, or perineum, hypospadias is often associated with a deficient prepuce and chordee. Hypospadias usually occurs as an ...
Yang Jae-Hyug - - 2004
The aim of this study was to establish a multi-center birth defects monitoring system to evaluate the prevalence and the serial occurrence of birth defects in Korea. Ten medical centers participated in this program. A trained nurse collected relevant records from delivery units and pediatric clinics in participating hospitals on ...
Pinter R - - 2004
We report a chromosomally normal infant boy with congenital diffuse cutis laxa, severe micrognathia, contractures of all limbs, and central nervous system abnormalities including agenesis of the corpus callosum, born to a woman taking D-penicillamine (DP) for Wilson disease (WD) throughout her pregnancy. His postnatal course was remarkable for chronic ...
Bower Carol - - 2004
Neural tube defects (NTD) were 43% more common in Indigenous than in non-Indigenous infants in Western Australia in the 1980s, and there has been a fall in NTD overall in Western Australia since promotion of folate and voluntary fortification of food has occurred. In order to investigate whether the fall ...
Wu Jilei - - 2004
Birth defects, which are the major cause of infant mortality and a leading cause of disability, refer to "Any anomaly, functional or structural, that presents in infancy or later in life and is caused by events preceding birth, whether inherited, or acquired (ICBDMS)". However, the risk factors associated with heredity ...
Caniano Donna A - - 2004
This article provides a framework for thinking about three areas in neonatal surgery that contain potential moral and ethical concerns for pediatric surgeons and the parents of a newborn and/or fetus with a surgical anomaly. The utilization of life-sustaining therapy for neonates has made survival possible for many infants with ...
Yuskiv Nataliya - - 2004
BACKGROUND: Oral consumption of synthetic folic acid can prevent neural tube defects (NTDs), which are some of the most severe congenital anomalies. The prevalence of NTDs in Ukraine and other countries of the former U.S.S.R. has not been well studied. We determined the prevalence of NTD-affected pregnancies in Northwestern Ukraine ...
Wyszynski Diego F - - 2004
The purpose of this study was to determine whether the National Health Interview Survey is a useful source to identify informative families for genetic studies of birth defects. The 1994/1995 National Health Interview Survey (NHIS) was used to identify households where individuals with two or more birth defects reside. Four ...
Goldkrand J W - - 2004
OBJECTIVE: To document trends in the clinical characteristics of gastroschisis and omphalocele in southeast Georgia, USA, from 1994 to 2002. METHODS: All babies with an abdominal wall defect in a 19-county region were referred to one Perinatal Center for genetic counseling, level II ultrasound scans, pregnancy follow-up and delivery. Karyotyping ...
de Weerd Sabina - - 2004
OBJECTIVE: To assess costs and effectiveness of preconception counseling for all women planning pregnancy in The Netherlands with regard to folic acid supplementation and smoking cessation counseling. STUDY DESIGN: Costs and effects were estimated based on 200,000 women approached yearly and uptake rates of 50% and 75%. Effectiveness and potential ...
Marie Sandrine - - 2004
In a female infant with dysmorphic features, severe neurological defects, and congenital blindness, a positive urinary Bratton-Marshall test led to identification of a massive excretion of 5-amino-4-imidazolecarboxamide (AICA)-riboside, the dephosphorylated counterpart of AICAR (also termed "ZMP"), an intermediate of de novo purine biosynthesis. ZMP and its di- and triphosphate accumulated ...
Forrester Mathias B - - 2004
A recent study had reported increased risk of Down syndrome among siblings of Infants with neural tube defects (NTDs) and vice versa. However Hawaii Birth Defects Registry data indicate no elevated risk of Down syndrome among older siblings of infants with NTDs and vice versa, contradicting the findings of the ...
- - 2004
Hypospadias is a birth defect that affects approximately seven in 1,000 male infants in the United States. In affected infants, the urethral opening is located along the underside of the penis, scrotum, or perineum; the condition usually is corrected by surgery. Hypospadias is classified in order of increasing severity as ...
Cleves Mario A - - 2004
BACKGROUND: Muscular ventricular septal defects (mVSDs) are the most common congenital heart defects. Previous studies have suggested maternal use of acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs), and/or fever as risk factors. We evaluated the association between mVSDs and maternal use of acetaminophen or NSAIDs adjusting for fever. METHODS: Infants with ...
Johnson Kelly M K - - 2004
BACKGROUND: The most severe neural tube defect (NTD), craniorachischisis, is characterized by anencephaly confluent with spina bifida open from the cervical to the lumbar region. We describe the prevalence of craniorachischisis among the Texas-Mexico border population during the period 1993-1999. METHODS: An active surveillance system identified all clinically apparent NTD-affected ...
Loffredo Christopher A - - 2004
Cardiovascular malformations (CVM) are the most common birth defects and carry significant and lifelong personal and societal costs. Research into genetic and environmental risk factors is therefore critical in identifying clues to causation and prevention. The purpose of this study was to investigate patterns of familial aggregation in CVM, specifically ...
Greene Anne E - - 2004
This report describes the implantation of a transcutaneous ICD system using a small patch electrode in the subscapular position, and an active-can device in a 5.3-kg infant. The indication for ICD implantation was recurrent cardiac arrest in the presence of normal coronary anatomy. Metabolic evaluation suggested a defect in fatty ...
Bayramiçli Mehmet - - 2004
Microvascular reconstruction of a cranial defect in a 10-week-old infant, which is the youngest case in the literature, is reported. A latissimus dorsi free muscle flap was transferred to cover the defect and a split thickness skin graft was placed over the muscle flap. Despite the successful flap transfer in ...
Oftedahl Elizabeth - - 2004
Wisconsin Statute 253.12 was enacted in May 2000 to create the Wisconsin Birth Defects Registry (WBDR), replacing the Birth and Developmental Outcome Monitoring Program, a previous birth defects and developmental disabilities reporting system initiated in 1989. In the summer of 2004, the new registry began collecting demographic, diagnostic, and identifying ...
Gaynor J William - - 2003
BACKGROUND: There has been increasing recognition of adverse neurodevelopmental sequelae in some children after repair of congenital heart defects. Even among children with the same cardiac defect, significant interindividual variation exists in developmental outcome. Polymorphisms of apolipoprotein E have been identified as a risk factor for worse neurologic recovery after ...
Werler Martha M - - 2003
OBJECTIVES: To examine, in Western Australian women, pregnancy use of drugs that have been found to be associated with birth defect risks in other studies. DESIGN: Data were used from a retrospective study of birth defects in which mothers were sent questionnaires asking about a variety of pregnancy events and ...
Castilla Eduardo E - - 2003
Several South American countries are fortifying wheat flour with folic acid. However, only Chile started in 2000 to add 2.2 mg/kg, providing 360 microg daily per capita, an acceptable dosage for preventing the occurrence of some neural tube defect (NTD) cases. ECLAMC (Spanish acronym for the Latin American Collaborative Study ...
Stenman Jan M - - 2003
We showed previously that the orphan nuclear receptor Tlx is required for the correct establishment of the pallio-subpallial boundary. Loss of Tlx results in a dorsal expansion of ventral markers (e.g., the homeodomain protein GSH2) into the ventralmost pallial region, i.e., the ventral pallium. We also observed a disproportionate reduction ...
De Wals Philippe - - 2003
BACKGROUND: In Canada, the first recommendations on the use of folic acid (FA) supplements by women planning a pregnancy or capable of becoming pregnant were issued in 1993. In 1998, fortification of flour with FA became mandatory. The objective of this study was to assess the impact of these measures ...
Cheng Ning - - 2003
OBJECTIVE: To determine the incidence, disease types, sequence of birth defects and prevalence of IgG and IgM in rubella infection in prepregnancy and pregnancy within 3 months in Gansu, People's Republic of China, and to determine a baseline of birth defects for an intervention project on birth defects in Gansu. ...
Shaw Gary M - - 2003
How folate reduces the risks of congenital anomalies is unknown. The authors focused on a gene involved in folate transport-reduced folate carrier-1 gene (RFC1). Using data from a California case-control study (1987-1989 births), the authors investigated whether the risks of orofacial clefts or conotruncal heart defects were influenced by a ...
Li Si-Jia - - 2003
BACKGROUND: Multiple births are increasing, and may be associated with birth defects. METHODS: To explore this relationship, data from the Virginia birth defects registry (VaCARES) was analyzed. RESULTS: During 1989-1998, a total of 44505 children from singleton births and 2258 children from multiple births were born with birth defects in ...
Baldasseroni Samuele - - 2003
BACKGROUND: In industrialized countries the prevalence of congestive heart failure (CHF) is increasing. Many clinical factors have been shown to influence the prognosis of CHF. The effect of a wide QRS on mortality is debated; while left bundle branch block (LBBB) has been already identified as a negative prognostic factor, ...
Correa-Villaseñor Adolfo - - 2003
BACKGROUND: The Metropolitan Atlanta Congenital Defects Program (MACDP) is a population-based birth defects surveillance program administered by the Centers for Disease Control and Prevention (CDC) that has been collecting, analyzing, and interpreting birth defects surveillance data since 1967. This paper presents an overview of MACDP current methods and accomplishments over ...
Cleves Mario A - - 2003
BACKGROUND: In the United States and other developed nations, birth defects are the leading cause of infant mortality. Congenital heart defects (CHDs) are among the most prevalent and fatal of all birth defects. Here we report the survival probability of infants born with CHDs in Arkansas and examine the impact ...
Yerby Mark S - - 2003
For infants exposed to antiepileptic drugs (AEDs) in utero, the risk for congenital malformations is approximately 4 to 6%, twice the rate reported in the general population. A variety of malformations have been reported in association with prenatal exposure to AEDs. However, a particular association of valproate and carbamazepine with ...
Edwards Robert G - - 2003
Birth anomalies recently detected in epidemiological studies indicate greater risks following assisted human reproduction than with natural conception. Some of these conclusions and assumptions are questioned in this paper, and the effects of specific causative factors unique to some infertile couples are analysed. Other recent studies have identified imprinting defects ...
Honein Margaret A - - 2003
BACKGROUND: Maternal subfertility and high body mass index (BMI) are both associated with adverse reproductive outcomes, including some birth defects. One study reported an association between subfertility and renal anomalies (Li, 1999). METHODS: We defined subfertility as the mother's report that she sought fertility treatment from a doctor/clinic, and high ...
van Dooren Marieke F - - 2003
BACKGROUND: The pathogenesis of congenital diaphragmatic hernia (CDH), a severe birth defect, is not well understood; however, both developmental genes and environmental factors have been suggested to be involved. CDH is frequently associated with malformations of other structures, such as limbs, whose embryogenesis is better understood. An examination of the ...
Botto Lorenzo D - - 2003
OBJECTIVES: Although several studies describe the 22q11.2 deletion, population-based data are scant. Such data are needed to evaluate properly the impact, distribution, and clinical presentation of the deletion in the population. Our goals were to assess the population-based birth prevalence of the 22q11.2 deletion and its associated phenotype and its ...
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