Search Results
Results 401 - 450 of 1147
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Zlotogora Joël - - 2003
The aim of this research was to determine the relative prevalence at birth of major malformations among the different religious communities in Israel as a way to better understand their causes. We collected data on malformations present among liveborn infants in a 10-year period from the national registry of birth ...
Volpe Paolo - - 2003
OBJECTIVES: One hundred and forty-one consecutive cases of malformations of the outflow tracts or interrupted aortic arch (IAA), detected by fetal echocardiography, underwent detailed anatomy scan, karyotyping and fluorescence in situ hybridization analysis (FISH) to detect the prevalence of 22q11 microdeletion and to evaluate neonatal clinical findings and outcome according ...
Salihu Hamisu M - - 2003
BACKGROUND: Variations in the temporal distribution and risk factors for omphalocele and gastroschisis have been suggested although results have not been conclusive. This study examines the trend and risk factors for both conditions among live births in New York State. METHODS: Analysis of surveillance data from the New York Congenital ...
Ralte A M - - 2003
We report a rare case of an infant with congenital muscular dystrophy who presented at birth with marked generalized hypotonia and normal mental development. Creatinine phosphokinase (CPK) level was markedly raised; however no white matter abnormalities were detected by brain imaging techniques. Immunohistochemical staining for merosin (laminin alpha 2) was ...
Bergmann Carsten - - 2003
We describe a male infant born to consanguineous healthy parents with multiple congenital anomalies of the skeleton and internal organs. His phenotype displays an overlap between VACTERL and hemifacial microsomia (oculo-auriculo-vertebral spectrum/OAV). In addition, striking asymmetry of the malformations further supports the classification as part of the "axial mesodermal dysplasia ...
Koster Erin L - - 2003
OBJECTIVE: To estimate whether women delivering infants with mild malformations are at increased risk to have a subsequent infant with a mild malformation. METHODS: Both severe and mild malformations detected at birth were cataloged prospectively for 33,701 women with two consecutive singleton births of infants weighing 500 g or more ...
McGlone L - - 2003
Congenital absence of the nose or arhinia is a rare defect of embryogenesis, often associated with other anomalies. It is potentially a life-threatening condition and requires the presence of a highly skilled neonatal resuscitation team at the time of delivery. The associated anomalies often have a significant impact on the ...
Pipitone Salvatore - - 2003
Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico-portal system. A ...
Dummer Trevor J B - - 2003
The objective of this study was to investigate the risk of stillbirth, neonatal death and lethal congenital anomaly in relation to proximity to hazardous industrial facilities at the time of birth in Cumbria, 1950-93. A retrospective cohort study was carried out using all 4325 stillbirths, 3430 neonatal deaths and 1569 ...
Captier G - - 2003
The aim of this study was to perform a morphometric analysis of the skull base to understand the mechanism of asymmetry between malformational and deformational plagiocephaly. Since 1988, we have carried out 102 CT scans with three-dimensional reconstruction of the endocranial side of the skull base. There were 20 cases ...
Clegg Herbert W - - 2003
Congenital cutaneous candidiasis (CCC) is usually a benign condition characterized by various skin manifestations and is rarely associated with nail changes. We report a premature infant with CCC who developed dystrophy of all 20 nails at about 1 month of age. Nail dystrophy due to Candida albicans in the young ...
Vaux Keith K - - 2003
BACKGROUND: Cyclophosphamide (CP) is an alkylating agent primarily used for the treatment of autoimmune disease and cancer. The purpose of this article is two-fold: first, to indicate that CP is a recognized human teratogen based on the features seen in a child prenatally exposed to this agent, as well as ...
Zlotogora Joël - - 2003
BACKGROUND: Infant mortality in Israel is twofold higher among non-Jews than Jews. OBJECTIVES: To determine the impact of congenital malformations and Mendelian diseases on infant mortality. METHODS: We compared the causes of infant mortality in a 4 year period among Jewish and non-Jewish Israeli citizens. Classification was done by analyzing ...
Dastgiri S - - 2003
AIM: To describe the survival to age 5 years of children born with congenital anomalies. METHODS: Between 1980 and 1997, 6153 live born cases of congenital anomaly were diagnosed and registered by the population based Glasgow Register of Congenital Anomalies. They were retrospectively followed to assess their survival status from ...
Shima Y - - 2003
We report an unusual case of perforation of a congenital fibrosarcoma of the jejunum in utero and secondary meconium peritonitis. Prenatal ultrasound showed polyhydramnios and fetal ascites from 25 gestational weeks in the absence of other fetal congenital anomalies. A 2200 g baby girl was born at 34 weeks gestation, ...
Tikhonova L - - 2003
OBJECTIVES: Reported cases of congenital syphilis in the Russian Federation increased 26-fold from 1991-9. Our objectives were to describe the frequency, risk factors, and consequences of delivering an infant with congenital syphilis among pregnant women with active syphilis. METHODS: In a retrospective record review using consecutive sampling of logs at ...
Makhoul I R - - 2003
Congenital limb deficiency (CLD) occurs in 0.54 to 0.59/1000 live-born infants and varies according to its anatomic location, type and cause. Our aim was to present a fetus with a prenatal ultrasonographic diagnosis of CLD (transverse reduction deficiency of the left upper limb), and to determine the prevalence and clinical ...
Castrodale Val - - 2003
Causes of hypotonia in the newborn can be broadly categorized into two classifications. Hypotonia with a supraspinal origin may be seen with systemic disease, hypoxic ischemic encephalopathy, cerebral malformations, syndromes (for example: Down, Prader-Willi, Lowe, Zellweger, Smith-Lemli-Opitz), and c-spine injury. Disorders of the motor unit that present with hypotonia in ...
Larsen Helle - - 2003
AIMS: The predictive value and completeness of data on congenital abnormalities (CAs) collected in three administrative health registries in the County of North Jutland, Denmark were compared. METHODS: The study included all singleton liveborn infants in the county during the period 1991-94 (n = 24,147). All infants recorded as having ...
Padilla- Carmencita D - - 2003
In the Philippines, congenital anomalies rank among the top 20 causes of death across the life span and are already the third leading cause of death in the infancy period (Philippine Department of Health, 1996). Despite the magnitude of the problem, no formal systematic registration of birth defects has been ...
Bianca S - - 2003
Pre-auricular tags are relatively common isolated congenital anomalies with a prevalence of about 5 per 1000 live births. Several associations with congenital anomalies have been reported and the opportunity of systematic ultrasonography examinations in these patients were debated in the literature. We conducted a retrospective epidemiological study on 95 affected ...
Fisk John M - - 2003
The authors designed and implemented a clinical data mart composed of an integrated information retrieval (IR) and relational database management system (RDBMS). Using commodity software, which supports interactive, attribute-centric text and relational searches, the mart houses 2.8 million documents that span a five-year period and supports basic IR features such ...
Mohamed Z Z Department of Radiology, University Hospital, Kebangsaan; - - 2002
This is an unusual case report of an infant, who initially presented with a facial haemangioma and was later diagnosed to have a dural sinus malformation (DSM) involving the torcula. The DSM increased in size lateralising to the right transverse sinus at three months of age. Postnatal enlargement of the ...
Simon Gregory E - - 2002
OBJECTIVE: This study evaluated the effects of prenatal antidepressant exposure on perinatal outcomes, congenital malformations, and early growth and development. METHOD: Within a group-model health maintenance organization, all infants with apparent prenatal exposure to tricyclic or selective serotonin reuptake inhibitor (SSRI) antidepressants were frequency matched to an unexposed comparison group ...
Kumar Pankaj - - 2002
OBJECTIVE: To describe a multidisciplinary approach for delivery room management of congenital epulis. STUDY DESIGN: Case reports. METHODS: Reporting of two cases of congenital epulis and review of the literature. RESULTS: Antepartum ultrasonography demonstrated massive intraoral masses in two fetuses whereby concerns regarding the patency of the airway at birth ...
Laartz Brent W - - 2002
OBJECTIVES: We report a case of congenital tuberculosis in a neonatal intensive care unit (NICU) and the management of exposure to other neonates in the hospital. We review the literature regarding congenital tuberculosis and management of exposures in the NICU. DESIGN: Case report and a survey of exposures with a ...
Ronya Rejum - - 2002
A prospective study to detect the frequency and distribution of congenital surgical malformations in a rural hospital setting in Maharashtra was carried out. A total of 3000 consecutive births over a 9-month period was included and the frequency of congenital malformations was 21.1 per 1000 births. Stillbirths were associated with ...
Vutova K - - 2002
The eye manifestations of congenital toxoplasmosis were investigated in 38 infants and children. Diagnosis of the congenital ocular lesions was established clinically, using also X-ray, computed tomography and ultrasonography, and confirmed by two immunodiagnostic techniques. Infants and children were examined when one or more characteristic manifestations of ophthalmic disorders were ...
Hsu Chia-Chi - - 2002
The purpose of this study was to analyse the clinical differences between omphalocele and gastroschisis in Taiwan, with special reference to associated anomalies and outcomes. A retrospective review was conducted of 115 cases seen between January 1990 and June 2000 at two tertiary medical centres in Taiwan. Data included perinatal ...
Jog S - - 2002
The frequency of diagnosis of congenital scoliosis in the neonatal period is expected to rise given the increasing survival of high risk neonates in the surfactant era and their frequent exposure to x rays. Considering its significant long term implications a neonatologist cannot afford to ignore the diagnosis of congenital ...
Meggitt S J - - 2002
Congenital cutaneous constriction bands are rare and often occur with other abnormalities, including the presence of rudimentary digits. This diverse syndrome lacks a precise definition and a satisfactory explanation. We describe two unusual cases with features previously undescribed, in which predominantly raised, annular limb bands became apparent postnatally. One infant ...
Scott J E S - - 2002
AIMS: To ascertain why 19.6% of pregnancies in which a fetal renal anomaly has been detected fail to produce a surviving child, and whether antenatal diagnostic accuracy has altered since specialised fetal medicine units were established in 1995. METHODS: An analysis of deaths was conducted among fetuses and babies with ...
Rylander L - - 2002
BACKGROUND: Working as a hairdresser involves exposure to a variety of chemical agents. AIMS: To estimate the risk of such exposure in relation to reproductive outcome. METHODS: A cohort of hairdressers, certified in Sweden from 1970 onwards, and a referent cohort of women from the general population were established and ...
Oxford Lance - - 2002
OBJECTIVE: To outline two cases of congenital tracheocutaneous fistula and discuss the potential pathogenesis of this previously unreported developmental abnormality. METHODS: Two cases of tracheocutaneous fistula evaluated at John Peter Smith Hospital (Fort Worth, TX) from May to October 2001 were reviewed. The surgical treatment of one infant is described. ...
Plotner Pamela L - - 2002
An infant with multiple congenital anomalies and severe developmental delay was found to have a derivative chromosome 4 by routine karyotypic analysis. Using telomeric FISH analysis, the source of the additional chromatin was determined to be from 20q. The infant, thus, is trisomic for 20q13.1 to 20qter and monosomic for ...
Schaap Arty H P - - 2002
OBJECTIVES: Next to procedure-related fetal loss, other adverse effects of invasive prenatal diagnosis have been reported: limb defects after chorionic villus sampling (CVS) or early amniocentesis and respiratory distress after amniocentesis (AC). Because minor abnormalities may be overlooked in routine follow-up, we obtained long-term follow-up data after CVS and AC. ...
Sheffield Jeanne S - - 2002
OBJECTIVE: To evaluate the contribution of placental histopathology to the diagnosis of congenital syphilis. METHODS: From January 1, 1986, through December 31, 1998, all pregnant women presenting to a large, urban Dallas County labor and delivery unit with untreated syphilis at delivery and who had placental evaluation performed were identified. ...
Stoll Claude - - 2002
The objectives of this study were to describe the impact of prenatal diagnosis on the birth prevalence of congenital anomalies over 21 years (1979-1999) in a well defined population in northeastern France (13,500 births per year). The material for this study came from the analysis of data from multiple sources ...
Carvalho Gílcia Aparecida de - - 2002
Aedes albopictus larvae were exposed, either individually or in groups, to different concentrations of xiphidiocercariae of Haematoloechus sp. for parasitological studies. It was observed the acute lethal effect and some aspects of the host-parasite relationship, such as delay or progress in the host life cycle, the number and location of ...
Moerike Shelley - - 2002
Isotretinoin can be teratogenic, affecting many tissues, including the ear. However, there are only two histopathologic studies of the temporal bone in affected humans, and neither describes the findings in early gestation. We had the opportunity to study both temporal bones in each of two fetuses (22 and 24 weeks) ...
Melve Kari Klungsøyr - - 2002
Infants with congenital malformations have on average lower birth weight than do infants without malformations. Preterm delivery and low birth weight are known to recur in sibships. The aim of the study was to compare the birth weight of siblings to malformed infants with the birth weight of infants in ...
Retik Alan B - - 2002
Hypospadias is one of the most frequently encountered congenital malformations of the genitourinary system. The incidence in studies of large populations has been reported to be from 1 to 8 per 1000 male births. For centuries the imagination and creativity of surgeons has been challenged to create a phallus that ...
Garne E - - 2002
AIM: To report the epidemiology, associated malformations, morbidity and mortality for the first 5 years of life for infants with gastrointestinal malformations (GIM). METHODS: Population-based study using data from a registry of congenital malformations (Eurocat) and follow-up data from hospital records. The study included livebirths, fetal deaths with a gestational ...
Sheffield Jeanne S - - 2002
OBJECTIVE: The purpose of this study was to characterize pregnancies that were complicated by maternal syphilis that had been treated before delivery in which the newborn infant was diagnosed with congenital syphilis. STUDY DESIGN: Prospective surveillance from January 1, 1982, to December 31, 1998, involved women who received antenatal treatment ...
Richardson M P - - 2002
We report a case of severe early congenital syphilis in the infant of a mother who acquired syphilis in mid pregnancy. The mother had received full antenatal care including serological screening for syphilis. Congenital syphilis is re-emerging in a number of industrialised countries and this report demonstrates that some of ...
Durfee Sara M - - 2002
OBJECTIVE: To assess the postnatal outcome and complications that arise in infants with the prenatal diagnosis of gastroschisis. METHODS: Prenatal sonograms with the diagnosis of gastroschisis were identified. Maternal age, indication for sonography, gestational age at diagnosis, other sonographic abnormalities, and postnatal outcome were recorded. RESULTS: Twenty-six fetuses at 16 ...
- - 2002
Congenitally acquired malaria is rare in the United States; < or = 10 cases are reported each year. Congenital infection with Plasmodium malariae is particularly uncommon because distribution of this parasite is focal and sparse in areas where P. falciparum is endemic. The last case of congenital P. malariae infection ...
Fofana Djibril - - 2002
In previous report on prenatal developmental effects of pure 2,4-dichlorophenoxyacetic acid (2,4-D) in rat, we found that this chemical was maternally toxic, embryolethal, and that it induced urogenital malformations in the fetuses. In the present report, we investigated the postnatal survival of the offspring prenatally exposed to 2,4-D during organogenesis, ...
Lapunzina Pablo - - 2002
OBJECTIVES: To evaluate the association between large for gestational age (LGA) and demographic and medical risk factors as well as specific types of congenital anomalies. STUDY DESIGN: A retrospective, case-control study on 2,149,617 consecutive births was conducted. LGA was defined as 1.64 SD above the mean weight for gestational age, ...
Olivieri A - - 2002
In the last decade a high frequency of other congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. In the present study the occurrence of additional congenital malformations (CM) in the population of CH infants detected in Italy between 1991 and 1998 (n = ...
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