Search Results
Results 351 - 400 of 1115
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Filippi Luca - - 2004
Three preterm newborns affected by congenital syphilis, born to mothers not adequately treated during pregnancy, are described. The clinical picture is characterized by a severe cholestatic hepatopathy and, in the two surviving patients, by an unusually wide ischemic-hemorrhagic lesion of the cerebral parenchyma. This lesion is probably due to a ...
Rittler Monica - - 2004
BACKGROUND: Sex ratio (SR) deviations have been reported for many congenital anomalies, but so far no satisfactory explanation for these deviations has been found. The aim of this study was to detect sex-related differences in the association between risk factors and congenital anomalies, and to relate these differences with possibly ...
Lago Eleonor G - - 2004
BACKGROUND: Behavioral and socioeconomic factors create considerable obstacles to the elimination of congenital syphilis. A clear understanding of maternal risk factors is important to define interventions in every community. GOAL: The goal of this study was to investigate maternal risk factors for congenital syphilis. STUDY DESIGN: We conducted a case-control ...
Sarnat Harvey B - - 2004
Vimentin, glial fibrillary acidic protein (GFAP) and S-100beta protein were studied by immunocytochemistry in the ependyma of patients with Chiari II malformations, congenital aqueductal stenosis, and hydromyelia. Paraffin sections of brains and spinal cords of 16 patients were examined, 14 with Chiari II malformations, most with aqueductal stenosis and/or hydromyelia ...
Saxena A K - - 2004
Rectal atresia is an extremely rare anorectal malformation. A unique case of rectal atresia presenting as an imperforate membrane associated with congenital cardiac malformations and unilateral choanal atresia in a newborn is reported. Ultrasound examination in the newborn infant located the presence of the rectal membrane which was surgically treated ...
Padmanabhan V T - - 2004
In a genetic epidemiological and fertility survey among 70,000 inhabitants in a high-background radiation region (HBRR) and normal radiation region (NRR) in Kerala, India, 985 persons were found to have heritable anomalies. Suggested etiologies for the anomalies were chromosomal and Mendelian, 15 percent; multifactorial, 60 percent; and congenital, 25 percent. ...
Tabor Ann - - 2003
OBJECTIVES: To assess whether the efficacy of screening for fetal malformations is affected by patient-, staff-, team- or work environment-related factors. METHODS: A prospective cohort study was carried out at a Danish university hospital with 4000 deliveries per year. In total, 7963 fetuses were examined by midtrimester ultrasound scan during ...
Glenn Orit A - - 2003
PURPOSE: To test the hypothesis that there is greater asymmetry in diffusion properties between right and left pyramidal tracts in patients with congenital hemiparesis than in patients with normal motor function. MATERIALS AND METHODS: Four congenitally hemiparetic patients and four age-matched controls underwent magnetic resonance diffusion tensor imaging (DTI)-based three-dimensional ...
Pumberger Wolfgang - - 2003
OBJECTIVE: The objective of the study is to present longitudinal observations in antenatally detected congenital lung malformations (CLM), particularly pulmonary sequestration (PS) and cystic adenomatoid malformation (CAM). METHODS: Fetuses found to have a CLM on prenatal ultrasound (US) were included in this study and followed up until delivery. In all ...
Yeats Melania - - 2003
An infant was born at term after having received a diagnosis of omphalacele on prenatal ultrasound scan. She did not have an omphalacele but rather had a patent urachus with bladder eversion onto the abdominal wall. The remainder of the genitourinary tract was normal, and it was possible to pass ...
Dambska M - - 2003
Eleven cases of newborns with acrania and macroscopically diagnosed anencephaly were neuropathologically examined. They presented changes in which 1 group corresponded to the diagnosis of aprosencephaly. In the second group, the development of prosencephalic structures was more advanced. The pathomechanism of the observed anomalies was analyzed in relation to data ...
Dummer Trevor J B - - 2003
Although several researchers have addressed the risk of congenital anomaly in relation to proximity to landfill sites, few have considered the risks of stillbirth or neonatal death for mothers who reside near landfills. The authors studied all 4,325 stillbirths, 3,430 neonatal deaths, and 1,569 lethal congenital anomalies that occurred among ...
Sharman-Koendjbiharie M - - 2003
BACKGROUND/PURPOSE: Gastrointestinal hormones modulate gut function in response to enteral nutrition. Infants with a congenital intestinal anomaly with loss of bowel length either pre-or postnatal, who are on total parenteral nutrition for prolonged periods after surgery, are especially prone to a disturbed secretion of gut hormones. The aim of this ...
Kiatchoosakun Pakaphan - - 2003
Tracheal agenesis is a rare congenital anomaly and typically has fatal consequences. Associated congenital malformations are present in 90 per cent of cases, most frequently affecting the cardiovascular or gastrointestinal systems and the genitourinary tract. Affected infants lack prenatal symptoms and usually present with severe respiratory distress, absence of audible ...
Aliyu M H - - 2003
OBJECTIVE: To examine the occurence and outcomes of African babies born with features of Eagle-Barret syndrome at a tertiary health centre. DESIGN: Case series. SETTING: University Teaching Hospital, Yaounde, Cameroon. SUBJECTS: Patients were identified through a retrospective review of obstetric records of mothers admitted at the centre within the period ...
Prasad Asuri N - - 2003
The floppy infant syndrome is a well-recognized entity for pediatricians and neonatologists. The condition refers to an infant with generalized hypotonia presenting at birth or in early life. The diagnostic work up in many instances is often complex, and requires multidisciplinary assessment. Advances in genetics and neurosciences have lead to ...
Premasiri Mapalagama K - - 2003
AIMS: This study attempts to determine the type and relative frequency of muscle diseases contributing to floppy and hypotonic infants in Singapore. METHODS: Eighty consecutive muscle biopsies in the Department of Pathology, National University of Singapore, in the period 1978-2000, in which a clinical diagnosis of floppy or hypotonic infant ...
Sumanović-Glamuzina Darinka - - 2003
OBJECTIVES: To determine the prevalence of major congenital malformations in West Herzegovina, a part of Bosnia and Herzegovina, immediately and five years after 1991-1995 military activities, which allegedly included the use of weapons with depleted uranium. METHODS: The study included all live-born and stillborn neonates and excluded all aborted fetuses ...
Alpert Samuel G - - 2003
PURPOSE: To report the first documented case of intrauterine transmission of West Nile virus (WNV) with resulting congenital chorioretinal scarring and central nervous system malformation in a newborn. DESIGN: Case report. METHODS: Ophthalmic findings and laboratory data in an otherwise presumed healthy 2-day-old female are presented. The infant's mother developed ...
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 - - 2002
Summary: 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 ...
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 ...
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