Search Results
Results 301 - 350 of 1013
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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 ...
Li Song - - 2003
We describe a unique birth defects surveillance system in the People's Republic of China. The system was instituted in March 1992 as a component of an evaluation of the effectiveness of a public health campaign using periconceptional folic acid supplementation to prevent neural tube defects, and currently surveys birth cohorts ...
Kwon Seonghee - - 2003
BACKGROUND: Birth defects in infants born to non-Caucasian, non-Indigenous mothers in Australia have not been described in detail previously. METHODS: Using data from the Western Australian Maternal and Child Health Research Data Base, an index cohort of all non-Caucasian, non-Indigenous mothers giving birth in Western Australia between 1985 and 1995 ...
Forrester Mathias B - - 2003
Triploidy is a highly lethal chromosomal abnormality with few fetuses surviving to term. Triploidy has not been extensively studied using data from a population-based birth defect registry. This investigation examined the epidemiology of triploidy using data from the Hawaii Birth Defects Program (HBDP) and compared its findings with the literature. ...
Forrester Mathias B - - 2003
Birth defects have been the leading cause of infant death in the United States for over the last decade. However, there is little population-based data on the first-year mortality rates for many specific birth defects and the factors that may affect these mortality rates. This investigation examined the first-year mortality ...
Levi S - - 2003
OBJECTIVE: To investigate the outcome of fetuses affected by congenital heart defects (CHD), either detected or undetected at ultrasound screening, according to their complexity and severity. DESIGN: The study group comprised 3633 malformed fetuses entered into the Eurofetus database of which 798 had CHD. We compared the short-term outcome in ...
Bosi Giuliano - - 2003
OBJECTIVE: Our aim was to examine the temporal variability in congenital heart defect (CHD) birth prevalence from 1980 to 2000 in Emilia-Romagna, Italy. METHODS: The study population consisted of all infants, surveyed by the Emilia-Romagna birth defects registry (Indagine Malformazioni conpenite in Emilia-Romagna [IMER]), who were affected by CHDs. A ...
Laughon Matthew - - 2003
OBJECTIVE: Gastroschisis is a congenital anomaly that has been reported to be increasing in frequency. The objective of this study was to determine the birth prevalence of gastroschisis using two large databases. STUDY DESIGN: We reviewed data from a statewide database and a national database from a neonatal health care ...
Heller Christine - - 2003
In neonates and infants, numerous clinical and environmental conditions lead to elevated thrombin generation and subsequent thrombus formation. Genetic prothrombotic defects (protein C, protein S and antithrombin deficiency, mutations of coagulation factor V and factor II, elevated lipoprotein (a)) have been established as risk factors of thromboembolic events in neonates ...
Keen Carl L - - 2003
Approximately 3% of infants born have at least one serious congenital malformation. In the U.S., an average of 10 infants per thousand die before 1 y of life; about half of these deaths can be attributed to birth defects, low birth weight or prematurity. Although the causes of developmental abnormalities ...
Orioli Iêda M - - 2003
Amniotic deformity, adhesion, and mutilation (ADAM) sequence is a heterogeneous condition, with a broad spectrum of anomalies, where intrinsic causes, as defect of germ plasm, vascular disruption, and disturbance of threshold boundaries of morphogens during early gastrulation, alternate with extrinsic causes as amniotic band rupture to explain the condition. This ...
Bhatti Tricia R - - 2003
BACKGROUND: Infantile cataract is an important cause of childhood visual impairment. Surgery before 6 weeks of age is recommended for optimal visual outcome. Description of the epidemiologic characteristics of cataracts is important for an improved understanding of the condition. OBJECTIVES: To identify at-risk populations and facilitate successful treatment of patients ...
Carey Mary - - 2003
In Western Australia (WA), talipes equinovarus is a notifiable birth defect and, since 1980, has been ascertained by the population-based Birth Defects Registry (BDR). Talipes equinovarus deformities were classified as two distinct and distinguishable types, viz. isolated talipes equinovarus (no other birth defects present) and associated talipes equinovarus (other birth ...
Araneta Maria Rosario G - - 2003
BACKGROUND: Epidemiologic studies of birth defects among infants of Gulf War veterans (GWV) have been limited to military hospitals, anomalies diagnosed among newborns, or self-reported data. This study was conducted to measure the prevalence of birth defects among infants of GWVs and nondeployed veterans (NDV) in states that conducted active ...
Rasmussen Sonja A - - 2003
OBJECTIVE: Although trisomy 13 and trisomy 18 are generally considered to be lethal, long-term survival of patients has been reported. We sought to evaluate mortality in people with trisomy 13 or 18 using 2 population-based strategies. METHODS: In the first analysis, infants who had trisomy 13 or 18 and were ...
Roessler Erich - - 2003
Detailed knowledge of the Hedgehog signaling pathway is fundamental to an understanding of vertebrate development as well as several birth defects in humans. Here we review various aspects of Hedgehog synthesis, secretion, distribution and function in the context of the most common anomaly of the developing forebrain in humans, holoprosencephaly. ...
Harris J A - - 2003
There were three objectives of this study: to investigate possible specificity in the association between specific cardiac defects and chromosomal anomalies; to evaluate ways of categorizing cardiac defects into larger groups with epidemiological similarities that could indicate similarities in etiology or pathogenesis; and to analyze the relationship between specific cardiac ...
Pradat P - - 2003
To analyze complex and noncomplex cardiac malformations regarding prevalence and in relation to demographic variables, we pooled data on infants (age 1 year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. Altogether, 12,932 infants had one or more congenital heart defects ...
Shaw Gary M - - 2003
BACKGROUND: Concerns about potential health effects of trihalomethanes (THMs) have prompted investigations on whether infants whose mothers were periconceptionally exposed to drinking water containing THMs are at greater risk of congenital malformations. METHODS: We used two large case-control maternal interview studies that were conducted among California deliveries from 1987 through ...
Sundberg Lena - - 2003
Type III secretion-dependent translocation of Yop (Yersinia outer proteins) effector proteins into host cells is an essential virulence mechanism common to the pathogenic Yersinia species. One unique feature of this mechanism is the polarized secretion of Yops, i.e. Yops are only secreted at the site of contact with the host ...
Finer Gal - - 2003
OBJECTIVE: Identification of neonatal hyperkalemia as a complication of Bartter syndrome (BS), a disorder usually characterized by hypokalemic metabolic alkalosis. Study design Case-series description of a group of 12 infants with mutations in the renal potassium channel ROMK, causing one of the antenatal variants of BS. RESULTS: Prematurity, postnatal polyuria, ...
Cheng Ning - - 2003
We report a study to determine the incidence, types and rank order of congenital anomalies and related fetal and infant mortality in Gansu province in China to provide a base-line for an intervention project directed at reducing birth defects in Gansu. Forty-two communities in four counties of Gansu were randomly ...
Rudnik-Schöneborn Sabine - - 2003
Pontocerebellar hypoplasia (PCH) is rarely associated with anterior horn cell disease and designated as PCH-1. This phenotype is characterized by severe muscle weakness and hypotonia starting prenatally or at birth with a life span not exceeding a few months in most cases. Milder disease courses with later onset and longer ...
Shen Irving - - 2003
The use of cardiopulmonary bypass is still necessary for the repair of many congenital cardiac defects. However, exposure to cardiopulmonary bypass can still lead to major morbidity and sometimes mortality, especially in neonates and infants, despite a perfect surgical repair. Various research-based strategies have been used to minimize some of ...
Kutcher Jeffrey S - - 2003
BACKGROUND: Bendectin was the primary pharmaceutical treatment of nausea and vomiting of pregnancy (NVP) in the United States until the early 1980s. Its manufacture was then discontinued after public allegations that it was causing birth defects. Subsequently, meta-analyses of the many epidemiological cohort and case/control studies used to examine that ...
Chia S E - - 2003
OBJECTIVE: The purpose of this study was to evaluate the association between the prevalence of birth defects among maternal and paternal occupation groups in Singapore for live births between January 1, 1994, and December 31, 1998, and to determine whether there are certain demographic risk factors and maternal and/or paternal ...
Stalmans Ingeborg - - 2003
Hemizygous deletion of chromosome 22q11 (del22q11) causes thymic, parathyroid, craniofacial and life-threatening cardiovascular birth defects in 1 in 4,000 infants. The del22q11 syndrome is likely caused by haploinsufficiency of TBX1, but its variable expressivity indicates the involvement of additional modifiers. Here, we report that absence of the Vegf164 isoform caused ...
Skinner Mark F - - 2003
This paper extends observations by Lukacs ([1999] Am. J. Phys. Anthropol. 110:351-363; [2001] Am. J. Phys. Anthropol. 116:199-208) of localized hypoplasia of the primary canine (LHPC) among large apes to gibbons, bonobos, and orangutans. LHPC is a roughly circular area of deficient enamel on the labial surface of primary canine ...
Olde Scholtenhuis M A G - - 2003
OBJECTIVE: To audit the current Dutch policy of prenatal detection of isolated open spina bifida based on offering detailed ultrasound examination only on indication. METHODS: A retrospective analysis of prenatally diagnosed isolated spina bifida cases and of newborns diagnosed with this condition was carried out in three university hospitals. The ...
Rokicki Władysław - - 2003
There is a common view that free radicals may play an important role in tissue damage resulting from circulatory insufficiency, cardiosurgery etc. There are very few data concerning the involvement of free radical reactions in the newborns and infants suffering from congenital heart defects (CHD). Antioxidant status was evaluated in ...
Tobias Joseph D - - 2003
OBJECTIVE: The authors present the use of synthetic factor VIIa to treat bleeding after cardiopulmonary bypass and surgical repair of an atrial septal defect in an infant with trisomy 10 and pulmonary hypertension. DESIGN: Case report. SETTING: University-affiliated pediatric intensive care unit. PATIENTS: A 4-mo-old, 3.7-kg infant. MAIN RESULTS: After ...
Lewis Michael J - - 2002
We report the identification of a yeast SNARE that has escaped notice because of an apparent error in the genome sequence and because it is functionally redundant. It is encoded by an extended version of ORF YAL014c, and since its SNARE motif is related to mammalian syntaxin 8 we term ...
Wang Raymond - - 2002
OBJECTIVES: To determine if infants of diabetic mothers (IDM) are at increased risk for dysplastic ears and the oculoauriculo-vertebral spectrum (OAVS). STUDY DESIGN: Cases of IDM with dysplastic external ears seen at Cedars-Sinai Medical Center were combined with case series in medical literature describing similar patients. Data from a large ...
Volcik Kelly A - - 2002
BACKGROUND: Altered cholesterol metabolism and defects in cholesterol biosynthesis may influence abnormal central nervous system (CNS) development. During early stages of embryonic development, high levels of cholesterol are needed by rapidly proliferating cells that utilize cholesterol as a key cell membrane component. Alterations in cholesterol levels are influenced by variations ...
Ramon Yitzchak - - 2002
A simple method for closure of a defect in the forehead area by four parallel flaps along the forehead wrinkle lines is illustrated. The main advantage of this method lies in its simple design, which enables the surgeon to close large defects with no elevation of the eyebrow, while preserving ...
Pesák Josef - - 2002
The occurrence of balbuties is a common phenomenon. Balbuties is defined as frequent repetition and lengthening of syllables and words, alternatively frequent halting with pauses impairing the rhythmic flow of speech. Balbuties may have a negative influence upon the psychic as well as social development of an individual. Psychiatric co-morbidity ...
Rasmussen Sonja A - - 2002
BACKGROUND: Advances in quantitative analysis and molecular genotyping have provided unprecedented opportunities to add biological sampling and genetic information to epidemiologic studies. The purpose of this article is to describe the incorporation of DNA sample collection into the National Birth Defects Prevention Study (NBDPS), an ongoing case-control study in an ...
Shaw Gary M - - 2002
Selected paternal occupations as well as specific occupational exposures to chemicals such as organic solvents have been suggested as possible risk factors for neural tube defects (NTD). We investigated data from a population-based, case-control study of fetuses and liveborn infants with NTDs among 1989-91 California births and fetal deaths. Interviews ...
Cope Jeffrey T - - 2002
To assess the authors' hypothesis that with modern techniques, the current risks of repair for both complete and partial atrioventricular canal (AVC) are equal. Repair of complete AVC in infancy has traditionally carried a substantial mortality. In contrast, partial AVC has been considered low-risk for repair and can be performed ...
Mathews T J - - 2002
Spina bifida and anencephaly are serious birth defects. To reduce the occurrence of these birth defects, the Food and Drug Administration authorized the fortification of all enriched cereal grain products with folic acid in March 1996, with compliance mandatory by January 1998. This report reviews data reported to CDC's National ...
McDonnell R - - 2002
In the past six years, there have been reports from abroad of an unexplained rise in the birth prevalence rate of the congenital abdominal wall defect gastroschisis, while rates for the macroscopically similar anomaly omphalocoele have remained stable. The Dublin EUROCAT Registry of congenital anomalies monitors trends in the birth ...
Shi L M - - 2002
The aims of the study were to assess the prevalence of birth defects (BDs) among different occupational groups and non-working parents, and to identify possible risk factors associated with BDs in Singapore live births born between 1 January 1994 and 31 December 1998. To do this, information on live births ...
Pennell Page B - - 2002
Pregnancy in women with epilepsy is associated with increased obstetric risks and increased adverse neonatal outcomes. Prior to conception, folic acid should be administered and the antiepileptic drug (AED) regimen should be optimized. Effective control of maternal seizures with the least risk to the fetus is the goal, preferably using ...
Baker Forest - - 2002
Pigeons played a repeated prisoner's dilemma game against a computer that reflected theirchoices: If a pigeon cooperated on trial n, the computer cooperated on trial n + 1; if the pigeon defected on trial n, the computer defected on trial n + 1. Cooperation thus maximized reinforcement in the long ...
Sim Keow G - - 2002
Mitochondrial fatty acid beta-oxidation disorders (FAOD) are a group of clinically and biochemically heterogeneous inherited metabolic defects. The spectrum of phenotypes has expanded from hepatic encephalopathy to encompass myopathy, cardiomyopathy, peripheral neuropathy, sudden death and pregnancy complicated by fetal FAOD. Pre-symptomatic diagnosis is important to prevent morbidity and this is ...
Salihu H M - - 2002
Between January 1989 and November 1996 we detected a total of 44 cases of anterior abdominal wall defects comprising 29 with an omphalocele and 15 with gastrochisis. The gestational age at antenatal diagnosis of gastrochisis (mean = 17 weeks, 95% CI = 15-19) was significantly lower than for omphalocele (mean ...
Stein Quinn - - 2002
There a few birth defects known to be preventable, but neural tube defects (NTDs) are one group of congenital anomalies that can potentially be prevented. When 400 micrograms of maternal periconceptional folic acid is taken daily, it can prevent many neural tube-related birth defects and thus reduce morbidity and mortality ...
Weber Thomas R - - 2002
Survival for newborns with congenital abdominal wall defects (primarily omphalocele and gastroschisis) has improved, but controversy remains regarding etiology, anatomy and embryology, the role of prenatal diagnosis and mode of delivery, and initial management. A number of recent studies have added to our knowledge and understanding of several of these ...
Mokhtar Mohamed Mohamed - - 2002
A case-control study of 514 infants with confirmed Down's syndrome (DS) was carried out during the period 1 July 1995-30 June 2000 to investigate the risk factors for the occurrence of congenital anomalies among DS cases. Our results showed that the significant risk factors for developing any type of congenital ...
Ashburn David A - - 2002
Gastroschisis is a defect of the ventral abdominal wall nearly always located to the right of the umbilicus. A relatively low incidence of associated anomalies exists with the most common being nonduodenal intestinal atresia occurring in 10 per cent of patients. Although multiple hypotheses have been proposed the pathogenesis of ...
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