Search Results
Results 451 - 500 of 1135
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Chadha R - - 2001
A 1-day-old boy who presented with an anorectal malformation (ARM) was found to have a segmental dilatation of the colon (SDC) associated with a typical congenital pouch colon (CPC) malformation. The distal colonic pouch terminated in a high colovesical fistula. The posterior portion of the perineal raphé was duplicated and ...
Narain S - - 2001
We report here a case of congenital syphilis presenting in a newborn infant at birth. A negative infant VDRL test, pseudoparesis and more notably, joint swellings (arthritis) were features seen uncommonly. Florid skeletal involvement, which is rarely seen in the early neonatal period, prompted us to draw attention to the ...
Dodds L - - 2001
Using data from the Nova Scotia Atlee Perinatal Database, rates of adverse birth outcomes were compared among residents of Sydney, Nova Scotia and residents of Cape Breton County, Nova Scotia (excluding Sydney) with birth outcomes among residents of the rest of Nova Scotia. There was a small but statistically significant ...
Vargas J E - - 2001
OBJECTIVE: We compared the prevalence of major and minor anomalies in a consecutive sample of newborn infants with congenital microcephaly with that among normocephalic infants. STUDY DESIGN: Head measurements from >19,000 liveborn infants at 1 hospital during the years 1991 and 1992 were reviewed. Infants whose head circumference was in ...
Rittler M - - 2001
Parental consanguinity, as a recognized risk factor for congenital anomalies, has mainly been studied with a focus on the types of parental relationships and their effects on genetic syndromes or birth defects in general. The present work analyzed the association between parental consanguinity and congenital anomalies, split, when possible, into ...
- - 2001
In 1998, CDC initiated intensive efforts to eliminate syphilis from the United States. The following year, the National Syphilis Elimination Plan was launched with the goal of reducing primary and secondary (P&S) syphilis in adults to <0.4 cases per 100,000 population. A decrease in syphilis among women of reproductive age ...
Giele H - - 2001
An 11-year total population study of Western Australia examined the prevalence and epidemiology of congenital upper limb anomalies. All anomalies were classified according to the International Federation of Surgical Societies of the Hand classification. We found the prevalence of babies born with upper limb anomalies to be 1 in 506. ...
Utkus A - - 2001
A genetic theory of "multifactorial" malformations, i.e., anomalies of blastogenesis or organogenesis, involving polygenic predisposition with morphogenetic threshold effect, was developed by Sewall Wright in the 1920s and remains an essential basis of birth defects biology. Because of the phenomenon of universality, i.e., the deployment of identical inductive, or pattern-forming, ...
Beiler H A - - 2001
Incidence of congenital diaphragmatic hernia (CDH) ranges from 1 in 2,400 to one in 5,000 live births. Associated anomalies in CDH are approximately 30% to 35%. The authors report on an infant with CDH and an accessory supradiaphragmatic liver with separate vascularization from the thoracic aorta. The pathogenesis of this ...
Källén K - - 2001
This study was undertaken to find a strict, unbiased epidemiological delineation of the VATER non-random association of congenital malformations and, based on registry information, to identify a group of probable VATER association infants suitable for etiological analyses. Information on 5,260 infants with multiple malformations was collected from four large registers ...
Cho S - - 2001
OBJECTIVE: A long-term retrospective analysis of 103 infants with anorectal malformations (ARMs) was conducted to describe any associated congenital anomalies and surgical classifications. DESIGN: Retrospective medical record review. SETTING: This case series was conducted on all infants with ARMs born at, or referred to, any of 3 major medical centers ...
Garne E - - 2001
OBJECTIVE: To compare the impact of induced abortions (IA) on the mortality of infants with congenital malformations in four European regions with different policies on IA and prenatal ultrasound screening for congenital malformations. METHODS: A registry-based collection of data on congenital malformations in four different countries: Ireland (Dublin), Denmark (Funen ...
Mazade M A - - 2001
We report an infant with congenital tuberculosis who presented with fulminant septic shock, disseminated intravascular coagulation and respiratory failure. Aggressive resuscitation and supportive care and prompt initiation of antituberculosis medications led to resolution of the shock state. We reviewed six other cases with a similar presentation. Congenital tuberculosis should be ...
Mandal A K - - 2001
This case documents unilateral congenital glaucoma associated with congenital lower lid entropion. A 2-year-old female infant was referred for evaluation and treatment of right-side buphthalmos caused by congenital glaucoma associated with bilateral congenital lower lid entropion that was prominent on the right side and present at birth. Examination disclosed a ...
Wang K S - - 2001
Omphalocele, colonic atresia (CA), and Hirschsprung's disease (HD) are individually rare congenital malformations. An association between CA and HD has been described, but the co-occurrence of all three malformations has not been previously reported. We present an infant born with all three malformations and review the management issues relevant to ...
Makhoul I R - - 2001
BACKGROUND: Congenital subependymal pseudocysts are incidental findings that are found in 0.5-5.2% of neonates during postmortem examination or head ultrasonography. In our institution we detected 10 neonates with CSEPC. OBJECTIVE: To investigate associated etiological factors, morphologic characteristics and outcome of CSEPC. METHODS: We performed a meta-analysis of the literature on ...
Ericson A - - 2001
The presence of congenital malformations in infants born after IVF was studied from a register consisting of practically all infants born in Sweden after IVF, 1982--1997 (n = 9111). A further 64 infants were studied using only medical records. It is a nation-wide study and has a population-based control group ...
Strauss A - - 2001
BACKGROUND: Prenatal diagnosis of congenital heart disease (CHD) is important for proper perinatal and neonatal management, as CHD occurs in approximately eight of 1000 live births. Antenatal detection of cardiac malformations is crucial as altered obstetric and neonatal management may be required and the neonate will benefit from delivery at ...
Martin D - - 2001
OBJECTIVES: To evaluate congenital syphilis surveillance in Minnesota, to assess the evaluation and management of newborns at risk for congenital syphilis, and to assess prenatal syphilis screening. DESIGN: Case ascertainment and medical record review. SETTING: The 7-county Minneapolis-St Paul metropolitan area. PATIENTS: Newborns at risk for congenital syphilis during a ...
Virtanen H E - - 2001
Reports based on national registers of congenital malformations have suggested that the birth rate of hypospadias has increased during the last few decades. Register-based information may, however, have pitfalls because of changes in diagnostics, reporting accuracy and registration system. The aim of this study was to determine the current birth ...
Mesleh R A - - 2001
A total of 104522 babies were delivered at the Riyadh Armed Forces Hospital between 1979 and 1998, including 807 stillbirths and 658 neonatal deaths. The 20-year period was divided into four 5-yearly intervals for comparative purposes. The overall Perinatal Mortality Rate (PMR) for infants weighing 500 grams or more ranged ...
Amor D J - - 2001
Hypoglossia is a rare congenital malformation, occurring either as an isolated malformation or in association with other deformities, particularly limb defects. We describe a female infant with congenital hypoglossia, micrognathia and situs inversus. The main complications were airway compromise and feeding difficulties requiring tracheostomy and gastrostomy. Situs inversus and hypoglossia ...
Kos M - - 2001
The aim of this study was to determine the types and frequencies of congenital gastroinstestinal (G-I) tract malformations on post mortem in the period from 1996 to 2000. Autopsy protocols of aborted fetuses, stillborn infants and infants that died within 7 days after delivery were retrieved from the archive and ...
Southwick K L - - 2001
OBJECTIVES: The present study was carried out in seven maternity hospitals to determine the prevalence of maternal syphilis at the time of delivery and the associated risk factors, to conduct a pilot project of rapid syphilis testing in hospital laboratories, to assure the quality of syphilis testing, and to determine ...
Wang F L - - 2001
Vital statistics and other administrative data are becoming an increasingly important source for epidemiologic research and surveillance. This study, the first in Canada, evaluated the usefulness of birth registry data on congenital anomalies in Alberta. We compared the number of birth defects recorded in the birth registry with the number ...
Liascovich R - - 2001
A sample of 53,552 nonmalformed liveborn infants was ascertained by the Latin-American Collaborative Study of Congenital Malformations between 1967 and 1996. The mean consanguinity rate was 0.96%, with significantly higher values in Brazil and Venezuela, and lower in Argentina. Low paternal education and occupation levels were positively associated with consanguinity. ...
Zmora E - - 2001
Israel is a country of controversies: with high-quality medical care available to all and a high antenatal detection rate of congenital anomalies followed by abortion, the incidence of infants born with malformations has been reduced dramatically in the last decade. On the other hand, religious and strong traditional ethnic attitudes ...
Miura M - - 2000
Two temporal bone-eustachian tube (ET) specimens, one from a 34-gestational week-old male newborn and the other from a 3-month-old female infant, both with trisomy 22, were studied histopathologically. Both cases demonstrated severe inner-ear anomalies including hypoplastic cochlea, atrophy of the saccular macula, and dislocated endolymphatic sac and vestibular aqueduct. In ...
Puvabanditsin S - - 2000
Congenital lobar emphysema is a cause of respiratory distress during infancy that may present a diagnostic problem. Recognition of this entity is rewarding, because excisional therapy is fairly specific and the results are satisfactory. We present two infants aged 7 weeks and 2 days with congenital lobar emphysema who were ...
Abou-Jaoude E S - - 2000
Oval-shaped cornea associated with true lens duplication and separate capsules is a rare anomaly. It can occur as an isolated finding(1,2) or be associated with other ocular and facial maldevelopments.(3-5) We report a novel association of an hourglass cornea, lens duplication, and optic nerve hypoplasia with myelomeningocele in a male ...
Lahat E - - 2000
Congenital asymmetric crying facies, a minor congenital anomaly due to absence or hypoplasia of the depressor anguli oris muscle on one side of the mouth, is associated at times with major congenital anomalies, most commonly in the cardiovascular system. In a prospective study of 5532 infants born at the Assaf ...
Drinkard C R - - 2000
PURPOSE: This retrospective surveillance study used linked administrative claims data and medical records to determine the rate and types of birth malformations in infants born to women exposed to the antibiotic, clarithromycin (Biaxin), during the first trimester of pregnancy. METHODS: Pharmacy and hospital claims from eight geographically diverse health plans ...
Weintraub M - - 2000
Congenital leukaemia (CL) is a rare disorder that presents with extramedullary infiltrates and a myeloid phenotype. CL can progress rapidly without adequate treatment, but, paradoxically, may also remit spontaneously. Because of the significant toxicity involved in delivering chemotherapy to newborns, it is important to identify those newborns who may not ...
Melamed Y - - 2000
OBJECTIVE: (1) To compare the preterm delivery rates in the Bedouin versus the Jewish population. (2) To compare risk factors for preterm delivery in the two populations. (3) To compare outcomes of preterm delivery between the two groups. STUDY DESIGN: 41669 Jewish singletons births of whom 2816 delivered preterm (23-36 ...
Arpino C - - 2000
The study goal was to assess teratogenic effects of antiepileptic drugs (AEDs) through the use of a surveillance system (MADRE) of infants with malformations. Information on all malformed infants (1990-1996) with maternal first-trimester drug exposure was collected by the International Clearinghouse for Birth Defects and Monitoring Systems (ICBDMS). Cases were ...
Addor M C - - 2000
Since 1988 the epidemiological surveillance of congenital anomalies (malformations, chromosomal aberrations, metabolic diseases, hereditary diseases, neurosensorial defects, etc.) is carried out by the Swiss registry of EUROCAT (European Registry of Congenital Anomalies and Twins). Several Swiss cantons collaborate through their own local registry, transmitting data to the central registry in ...
Hunter S - - 2000
OBJECTIVE: To examine the results of fetal cardiac scanning and audit the changes in performance resulting from the introduction of a training programme for obstetric ultrasonographers. METHODS: Using the database of the Northern Regional Congenital Abnormality Survey (NORCAS), fetuses with complex or significant congenital heart disease (CCHD) diagnosed prenatally in ...
Rosano A - - 2000
STUDY OBJECTIVE: To provide an international perspective on the impact of congenital anomalies on infant mortality from 1950 to 1994. DESIGN: Population-based study based on data obtained from vital statistics reported to the World Health Organisation. SETTINGS: 36 countries from Europe, the Middle East, the Americas, Asia, and the South ...
Brasil R - - 2000
Purpose- To evaluate the risk of having a baby with congenital anomalies in mothers who used misoprostol during pregnancy.Methods- Hospital-based case - control study from Hospital Chateaubriand, Fortaleza, Brasil. Cases were 37 babies weighing less than 1500 g with congenital anomalies of various types, and the comparison group included 387 ...
Ojemann J G - - 2000
In 2 cases of infants with the Chiari II malformation, a prepontine cyst presented in association with the hindbrain abnormalities characteristic of the Chiari II syndrome. Both infants presented with bulbar dysfunction and had poor outcome despite decompression of the cerebellar tonsillar herniation and drainage of the prepontine cysts. No ...
St John M A - - 2000
Rubella and congenital rubella syndrome (CRS) are preventable, but epidemics of rubella and CRS are not infrequent in the Caribbean and other developing countries. As a result of a surveillance system initiated after an epidemic of rubella in the Barbadian population in 1996, cases of CRS were identified and investigated. ...
Haas F - - 2000
OBJECTIVE: Previous reports have suggested that prematurity and low birth weight are risk factors for definitive surgical intervention in congenital cardiac malformations. The following data review our experience with primary repair of the complex malformation of aortic arch obstruction with ventricular septal defect (VSD) in this patient population. METHODS: Since ...
Linhart Y - - 2000
OBJECTIVE: To determine whether congenital anomalies are associated with a high rate of neonatal morbidity in preterm birth. STUDY DESIGN: 312 singletons (22-36 wk) with congenital anomalies that were delivered preterm were compared with a random sample of 936 preterm singleton without congenital anomalies. Data was obtained using the computerized ...
Wen S W - - 2000
BACKGROUND: We assessed the impact of recent advances in perinatal care on infant mortality due to congenital anomaly. METHODS: Analysis of trends in congenital anomaly-attributed infant mortality, using the 1981-1995 Statistics Canada's birth and death records, with a total of 2,878,826 live births, 21,883 infant deaths, and 6, 908 infant ...
Källén K - - 2000
Using a novel method for the analysis of infants with multiple malformations, we investigated the cluster of associated malformations called the OEIS (omphalocele, bladder exstrophy, imperforate anus, spine defect) complex among 5,260 infants with multiple malformations identified in four large registers of congenital malformations, corresponding to 5.84 million births. The ...
Kim H L - - 2000
OBJECTIVE: Anorectal malformations are usually diagnosed at birth, but some patients have presented to this institution beyond the early newborn period without recognition of their anorectal malformations. To quantify the extent of this problem, we undertook a review of all patients presenting to this hospital with anorectal malformations. METHODS: We ...
Nowaczyk M J - - 2000
We report an infant with holoprosencephaly (HPE), sacral anomalies, and situs ambiguus with a 46,XY,der(7)t(2;7)(p23.2;q36.1) karyotype as a result of an adjacent-1 segregation of a t(2;7)pat. The chromosomal abnormality was diagnosed prenatally after sonographic detection of HPE in the fetus. The baby was born at 37 weeks gestation, and died ...
Thompson A J - - 2000
There is a recognised association between major gastrointestinal (GI) malformations and congenital heart disease (CHD). A retrospective study over 10 years involving 240 infants born with gastrointestinal malformations was conducted in the Royal Belfast Hospital For Sick Children (RBHSC). We felt it was important to look at the incidence of ...
Landau D - - 2000
Two newborns with glomerulocystic kidney disease manifesting as late onset oligohydramnion and neonatal anuria, yet without severe respiratory distress, are presented. They had a similar perinatal course and associated clinical manifestations. No associated congenital or inherited malformation syndrome could be defined. Both infants' parents were first degree cousins and belonged ...
Sabharwal A J - - 2000
Analyses of survival data of neonates born with congenital diaphragmatic hernia (CDH) can be misleading. There is a hidden mortality only apparent when fetuses with CDH are included in the analysis. A retrospective review of all post mortems with a diagnosis of CDH in the West of Scotland over a ...
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