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Results 451 - 500 of 1012
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Singer S - - 1999
A craniomaxillofacial unit was established recently in Western Australia, and a study was carried out to provide some baseline characteristics of primary craniosynostosis in Western Australia and to investigate whether there has been any significant temporal change in birth prevalence. A case control study was conducted, using cases identified from ...
Skjaerven R - - 1999
BACKGROUND AND METHODS: Persons with birth defects are at high risk for death during the perinatal period and infancy. Less is known about the later survival or reproduction of such persons. We studied a cohort that comprised 8192 women and adolescent girls with registered birth defects and 451,241 women and ...
Reefhuis J - - 1999
BACKGROUND: While monitoring birth defects in a registry, statistically significant increases in prevalence occasionally occur. In the European Registration Of Congenital Anomalies (EUROCAT) in the Northern Netherlands 20000 births are monitored every year. For omphaloceles, a steady increase in the prevalence from 0.86 per 10000 live- and stillbirths in 1981-1983 ...
Grech V - - 1999
OBJECTIVE: To study diagnostic and surgical trends in atrial septal defect (ASD) in a population-based study, and estimate birth prevalence and spontaneous closure rates. METHODOLOGY: All patients in Malta diagnosed as having ASD and born between 1990 and 1994 were identified from various sources. This took place in the setting ...
Toshimori K - - 1999
The juvenile visceral steatosis mutant mice serve as an animal model of primary carnitine deficiency, classified as the sudden infant death syndrome. The defect in carnitine uptake was recently found to be due to a defect in the carnitine transporter gene. We herein report, for the first time, the characteristics ...
Stoltenberg C - - 1999
Recurrence risks give insight into the causes of birth defects and are useful in genetic counseling. There are few population-based studies of recurrence of birth defects for subsequent sibs with consanguineous parents. The aim of this study was to estimate and compare the recurrence risk of birth defects for offspring ...
Reddy V M - - 1999
BACKGROUND: Published data suggest that low birth weight is a risk factor for poor outcome in corrective surgery for many cardiac defects. Congenital heart defects in low birth weight infants are typically managed with supportive therapy or palliative operations, with definitive repair delayed. The morbidity associated with such approaches is ...
Aggarwal A N - - 1999
STUDY OBJECTIVE: To evaluate if direct substitution of arm span for height during interpretation of spirometry data leads to any significant statistical or clinical differences in Indian adults, and to compare this method with the use of height estimated indirectly from arm span. DESIGN: Cross-sectional. SETTING: Respiratory laboratory of a ...
Baird P A - - 1999
OBJECTIVES: Birth defects occur in populations in 3-5% of births. This paper assesses whether population-wide screening programmes for pregnant women would be likely to result in major decreases in the prevalence of birth defects. METHOD: Relevant literature on this question is reviewed and synthesized. RESULTS: Given certain assumptions, a decrease ...
Kimble R M - - 1999
Infants born with gastroschisis (GS) in association with intestinal atresia are well described, however, atresia to the extent where none or very little of the midgut remains has rarely been reported. In this paper we present one infant born with a GS defect in combination with total loss of the ...
Mylanus E A - - 1999
We present a full-term newborn infant who suffered from immediate postpartum severe respiratory distress. The infant had an inspiratory stridor as a result of a swelling of the soft palate, extending from the roof of the nasopharynx. Transoral endotracheal intubation resulted in normal saturation levels. Histologic examination after an open ...
Forrester M B - - 1998
This study examined the effect of prenatal diagnosis and elective termination on the prevalence of neural tube defects, oral clefts, abdominal wall defects, and chromosomal anomalies in Hawaii by using actively ascertained surveillance data collected between 1987 and 1996 by the Hawaii Birth Defects Program. Because the Program has nearly ...
Burton B K - - 1998
Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. A practical clinical approach to the recognition of inborn errors of ...
Freeman S B - - 1998
Mental retardation and hypotonia are found in virtually all Down syndrome (DS) individuals, whereas congenital heart defects (CHDs) are only present in a subset of cases. Although there have been numerous reports of the frequency of CHDs in DS, few of the studies have had complete ascertainment of DS in ...
Trump D - - 1998
X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA. Affected subjects, who are males, suffer from infantile onset of epilepsy and hypocalcaemia, which appears to be the result of an isolated congenital defect of parathyroid gland development; females are not affected and are normocalcaemic. ...
Pivnick E K - - 1998
An infant presented with multiple congenital anomalies including a midline thoracoabdominal defect, absence of the sternum, ectopia cordis, right diaphragmatic hernia, right anophthalmia, left microphthalmia, incomplete bilateral cleft lip, and various limb defects including ectrodactyly of the right hand and left foot, and phocomelia of the right lower extremity. The ...
Aronis S - - 1998
A combined hemostatic defect consisting of a reduction in certain procoagulants, anticoagulants (antithrombin III-ATIII-, protein C-PC-) and components of the fibrinolytic system (plasminogen-Plg-) was demonstrated in very-low-birth-weight infants (VLBW <1,500 g) with gestational age 26-32 weeks. Sixteen of them were healthy, 28 were suffering from RDS and 24 from septicemia. ...
Newman R S - - 1998
BACKGROUND: Spontaneous neonatal thrombosis due to heritable gene defects has been reported in the past. A recently discovered defect, the factor V Leiden mutation, is the most frequent inherited risk factor for venous thrombosis. CASE: Factor V Leiden was diagnosed postmortem in a neonate who died from complications of vena ...
- - 1998
Infant mortality has declined in the United States because of advances in public health and clinical medicine. Birth defects are the leading cause of infant mortality, but infant mortality attributable to birth defects (IMBD) has not declined as rapidly as overall infant mortality. From 1968 to 1995, the proportion of ...
Lin S - - 1998
This article examines the association between two birth defects, neural tube defects and oral cleft defects, and maternal physical work demands during the periconceptional period. A case-control study was conducted by comparing exposure characteristics of mothers of malformed infants, as ascertained from the New York State Congenital Malformations Registry (n ...
Pastuszak A L - - 1998
BACKGROUND: Patients with upper gastrointestinal ulceration may be treated with misoprostol, but it is not recommended for pregnant women because it may stimulate uterine contractions and cause vaginal bleeding and miscarriage. Recent data from Brazil, where misoprostol is used orally and vaginally as an abortifacient, have suggested a relation between ...
Csabay L - - 1998
The authors review the most common congenital anomalies of the central nervous system (CNS): neural tube defects (NTDs), ventriculomegaly/holoprosencephaly, hydranencephaly, holoprosencephaly sequence, iniencephaly, and microcephaly. They emphasize the importance of the diagnostic tools (biochemical markers of the maternal serum, ultrasound screening, invasive techniques), methods which are complementary to each other.
Torfs C P - - 1998
In a population of close to 2.5 million infants born from 1983 to 1993 registered in the California Birth Defects Monitoring Program, we compared the prevalence of structural birth defects among 2,894 infants with Down syndrome (DS) with that of infants without DS. Among 61 defects uniformly ascertained in affected ...
Sergi C - - 1998
A female fetus showing severe growth retardation was delivered at 31 weeks of gestation because of fetal distress. At birth, the infant showed bradycardia and no spontaneous breathing. Although high frequency oscillatory ventilation was started, severe asphyxia persisted and the infant died of respiratory insufficiency. At the autopsy, the propositus ...
Grech V - - 1998
STUDY OBJECTIVE: To estimate birth prevalence of tetralogy of Fallot (TF) in Malta. DESIGN: Retrospective data collection and analysis, and comparison with earlier epidemiological studies dealing with congenital heart disease. SETTING: Regional hospital providing exclusive diagnostic and follow up services for the entire country of Malta. PATIENTS: All Maltese live ...
Tulipan N - - 1998
BACKGROUND: Evidence accumulating over the last 10 years suggests that the exposed spinal cord tissue in a myelomeningocele sustains a secondary injury as the result of prolonged exposure to the intrauterine environment. These data suggest that early closure of the myelomeningocele sac might prevent such injury and in turn improve ...
Byron-Scott R - - 1998
The purpose of this study was to determine the prevalence, clinical characteristics, prenatal diagnosis and occurrence of other birth defects with abdominal wall defects in births and terminations of pregnancy in South Australia (SA) and Western Australia (WA) over the period 1980-90. Cases of gastroschisis, exomphalos, bladder exstrophy, cloacal exstrophy ...
Steger K - - 1998
The quantitative distribution pattern of Ki-67 protein and proliferating cell nuclear antigen (PCNA) immunoreactivity was studied in human testis biopsies. In normal seminiferous epithelium Ki-67 is expressed in nuclei of spermatogonia, while PCNA additionally occurs in nuclei of primary spermatocytes. The staining pattern of spermatogonia is as follows (Ki-67-positive/PCNA-positive): 26.6 ...
Hwang S J - - 1998
Animal studies have suggested an important role for the homeobox-containing gene MSX1 in limb, oralfacial, and cardiac malformations. In this study of 516 Caucasians with isolated birth defects registered in the Maryland Birth Defects Reporting and Information System (BDRIS), we report an association between a dinucleotide repeat polymorphism in MSX1 ...
Källén B - - 1998
The possible impact of early gonadal irradiation on the results of future pregnancies is unclear. This study is based on the progeny of 17,393 women who were treated with irradiation for skin hemangiomas at the age of 18 months or less. The mean ovarian dose was 6 cGy, and the ...
Ellaway C - - 1998
We report a male infant with cobalamin C defect whose clinical course was complicated by diarrhoea suggestive of a protein-losing enteropathy, failure to thrive, macrocytosis and thrombocytopenia which resolved with hydroxocobalamin treatment. Protein-losing enteropathy has not previously been reported in association with cobalamin C defect and, if unrecognized, could cause ...
Kälién B - - 1998
The paper describes associated malformations in infants born with neural tube defects (N = 3,809) from three large malformation registers and in fetuses aborted because of a diagnosed neural tube defect (N = 748) from two of the registers. In infants, upper spina bifida and encephalocele are more often associated ...
Wang C M - - 1998
Tracheal agenesis (TA) is a rare congenital anomaly that is incompatible with prolonged life. It may occur alone or with other associated anomalies. A term infant presented with cyanosis, hypotonia, absence of crying and respiratory distress at birth. Intubation was difficult. Esophageal intubation was performed under laryngoscopy. As TA was ...
Martínez-Frías M L - - 1998
Van Allen et al. [(1973) Am. J. Med. Genet. 47:723-743] provided evidence for multisite closure of the neural tube in humans. Reynolds et al. [(1995) Proceedings of the Greewood Genetic Center 14:70-71] and Seller [(1995) J. Med. Genet. 32:205-207] described 13 and seven cases of noncontiguous neural tube defects (NTDs) ...
Torfs C P - - 1997
The possible association of Down syndrome (DS) with omphalocele is controversial. We reviewed the 2,979 live births and stillbirths with DS born from 1983 to 1993 in the catchment area of the California Birth Defects Monitoring Program (CBDMP). We observed one infant with both defects, a number that did not ...
Yang Q - - 1997
In the 1960s, thalidomide caused limb deficiencies in thousands of infants worldwide. The limb deficiencies were frequently of the intercalary type. As a result, numerous countries started birth defect surveillance programs. In 1967, the Centers for Disease Control (CDC) started the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based surveillance ...
Martínez-Frías M L - - 1997
The spectrum of defects in cases with limb body wall complex (LBWC) is quite variable since other anomalies are also observed in infants with LBWC, and some cases do not have limb deficiencies. Van Allen et al. [Am J Med Genet 1987;28:529-548] proposed that the diagnosis of LBWC (presence of ...
Moore C A - - 1997
In the northern provinces of China, the birth prevalence rate of neural tube defects (NTDs) is among the highest in the world-at about 6 per 1,000 births in rural areas. A unique population-based birth defects surveillance system in which photographs are taken of infants with selected external birth defects was ...
Bishop J B - - 1997
Birth defects cause a myriad of societal problems and place tremendous anguish on the affected individual and his or her family. Current estimates categorize about 3% of all newborn infants as having some form of birth defect or congenital anomaly. As more precise means of detecting subtle anomalies become available ...
- - 1997
Through CDC's Birth Defects Monitoring Program (BDMP), a total of 161 categories of birth defects are analyzed quarterly to determine increases or other unusual trends. Sixteen of these malformations have been selected for review in this report because they occur in sufficient numbers to provide relatively stable rates, the coding ...
Martínez-Frías M L - - 1997
In 1965, Torpin [1965; Am J Obstet Gynecol 91:65-75] concluded that fetal constrictions and amputations were related to amniotic membrane rupture. Since then, this view was accepted widely, although different terms were used due to the variation in the types of associated anomalies. I consider that for those cases without ...
McLachlan H V - - 1997
The arguments of Van Niekerk and Van Zyl that, on the grounds that it involves an inappropriate commodification and alienation of women's labour, commercial surrogate motherhood (CSM) is morally suspect are discussed and considered to be defective. In addition, doubt is cast on the notion that CSM should be illegal.
Firth H - - 1997
Chorion villus sampling (CVS) is a widely used technique in first trimester prenatal diagnosis. In the early 1990s, two clusters of babies with limb defects following CVS were reported, raising the possibility of a causal association between early CVS and transverse limb deficiency. The evidence for this association is reviewed ...
Sival D A - - 1997
AIM OF THE STUDY: In the present longitudinal study we investigated the relationship between prenatal motor behaviour and the postnatal neurological sequelae of infants with spina bifida aperta. METHODS AND PATIENTS: Prenatal isolated leg movements and general movements of 13 fetuses/infants with spina bifida aperta were assessed by means of ...
Romitti P A - - 1997
Accurate family histories of birth defects are critical for risk assessment and etiologic investigations. Typically, information about family history of birth defects is ascertained from interviews with birth mothers of index children; however, the quality of these interviews is rarely assessed. We evaluated family history information provided by case (n ...
Koeslag J H - - 1997
It will be a universal feature of sexual populations that individuals prefer mates with typical rather than rare characteristics--essentially because most mutations reduce fitness. This is termed koinophilia. Koinophilia will also apply to behaviour. In particular, individuals will prefer mates that behave in social interactions that follow whatever rules are ...
Kristensen P - - 1997
We investigated birth defects (N = 4,565) reported to the Medical Birth Registry of Norway among 192,417 births between 1967 and 1991 to parents identified as farmers in five agricultural and horticultural censuses between 1969 and 1989. The prevalences at birth of all and specific birth defects deviated little from ...
Bové T - - 1997
We report on a 2-month-old infant with the unusual association of an upper sternal defect and tetralogy of Fallot. Surgical correction of the cardiac disease consisted of closing the ventricular septal defect and relief of the right ventricular outflow tract by infundibuloplasty. The already less compliant bony thorax of the ...
Roberts H E - - 1997
Very little data are available from population-based studies on congenital hypothyroidism (CH) epidemiology and patterns of associated birth defects. By linking data from two population-based registries, we describe the epidemiology of CH and associated defects in Atlanta from 1979-1992. Cases included all infants with CH born from 1979-1992 to mothers ...
Werler M M - - 1997
It is well established that maternal multivitamin supplementation reduces the risk of neural tube defects and evidence suggests that it may be associated with other reproductive outcomes. The present study was prompted by a report from a randomized trial in Hungary which showed a 40% increase in multiple births among ...
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