Search Results
Results 351 - 400 of 1156
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Bluestone Charles D - - 2005
Humans are born 12 months too early. Gestation should be 21 months. Humans evolved to become the pre-eminent animal in the world, but our big brain, bipedalism, and small female pelvic outlet have caused us to pay the price of being born too soon with all of its disadvantages. Early ...
Dawodu A - - 2005
OBJECTIVES: We examined the contribution of genetic disorders to congenital anomalies (CA) causing neonatal deaths in the Al Ain Medical District (AMD) in the United Arab Emirates (UAE) because of the high consanguineous marriage rate in the community. METHODS: Charts of all neonatal deaths in the three perinatal units, which ...
Källén Bengt - - 2005
Infants with a clinical diagnosis of anophthalmia or microphthalmia were identified from four health registers in Sweden, covering different parts of the period 1965-2001. During the observation period, the rate of anophthalmia decreased from the early 1970s from 0.4 to 0.2 per 10,000 births. The registered rate of microphthalmia increased ...
Sidwell R U - - 2005
We describe an infant with a congenital form of non-Langerhans cell histiocytosis with clinical and pathologic features of both disseminated juvenile xanthogranulomatosis and benign cephalic histiocytosis. The findings in this case support the concept of these non-Langerhans cell histiocytoses forming part of a spectrum of disease rather than being separate ...
Rimm Alfred A - - 2004
To estimate the risk of major malformations in IVF and ICSI infants. Forty-four studies published in English since 1990 where the major malformation rate for IVF or ICSI cases was compared to an appropriate control group were reviewed. Nineteen studies met all selection criteria. In addition, a quality score was ...
Ngoma Mary Shilalukey - - 2004
The last successfully treated case of congenital trypanosomiasis in Zambia was in October 1978, with detailed analysis of immunoglobulins, illustrating the waning of blood and serum levels of IgA, IgG, and IgM during treatment, up to 99 days after treatment. Twenty-five years later, we report on a case of congenital ...
Vanara F - - 2004
OBJECTIVE: To perform a cost-effectiveness analysis comparing the current Italian situation of no organized screening program for structural fetal malformations with an organized screening model involving a scan at 19-21 weeks of gestation. METHODS: Assumptions were made about the number of pregnant women examined per year, the number of ultrasound ...
Hussain Khalid - - 2004
Congenital hyperinsulinism of infancy is the commonest cause of persistent and recurrent hypoglycaemia in the neonatal and infancy period. It is a heterogeneous disorder with respect to clinical presentation, histology, molecular biology and genetics. The biochemical profile is one of hypoketotic, hypofattyacidemic hypoglycemia. To prevent permanent brain damage from hypoglycemia, ...
Czeizel A E - - 2005
OBJECTIVE: The objective was to determine the teratogenicity of dimenhydrinate, an anti-emetic drug. METHODS: We compared patients with congenital abnormalities with matched normal controls. Cases were taken from the population-based data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities between 1980 and 1996, while matched controls were from the ...
Yang Juan - - 2004
BACKGROUND: Little is known about the occurrence of specific congenital malformations among offspring of mixed race-ethnicity. METHODS: Using data from a population-based registry, we explored the occurrence of selected malformation phenotypes in offspring to parents who were of different race-ethnicity. Data were derived from the California Birth Defects Monitoring Program, ...
Nzeh D A - - 2004
Transfontanelle (cranial) ultrasonography was carried out in 98 Nigerian infants over a period of 5 years. Of the infants, 38 (38.8%) had hydrocephalus from various causes while 26 (25.5%) had congenital anomalies. As ultrasound equipment is becoming a more readily available and affordable tool in the developing countries, it should ...
McBride Kim L - - 2004
BACKGROUND: Aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS) are obstructive malformations of the left ventricular outflow tract that account for a significant proportion of infant mortality. Two previous small case-control studies suggested methylenetetrahydrofolate reductase (MTHFR) polymorphisms may be associated with this group ...
Tay E - - 2004
This case report describes an extremely premature infant who was born with a high anorectal malformation requiring a colostomy soon after birth. He later developed multiple episodes of acute urinary retention complicated by bilateral hydronephrosis and acute renal failure. The cause of the retention was found to be the prolapsing ...
Yuko-Jowi C - - 2004
Ectopia Cordis is a dramatic but rare cardiac anomaly with poor prognosis in most centers worldwide. This rare malformation occurs in 5.5-7.9 per million live births in the USA(1). This cardiac malformation is defined as a heart that is in an extra- thoracic position. In this article, we report two ...
Baroncini-Cornea S - - 2004
Tracheal agenesis is a potentially lethal congenital anomaly, appearing only at birth. We describe a newborn preterm infant who presented with immediate respiratory distress and no audible cry. There was almost complete tracheal agenesis with a very short segment of distal trachea (only two tracheal rings) arising from the anterior ...
Pinar Halit - - 2004
Neonatal deaths in infants born at term are relatively rare in the USA, occurring in 0.9/1000 live births. Congenital malformations, perinatal asphyxia, infections and inborn errors of metabolism are the leading causes. Chromosomal malformation syndromes, congenital heart disease, pulmonary hypoplasia and severe neural tube defects comprise the majority of lethal ...
Khanum S - - 2004
Congenital malformations were studied prospectively covering 11680 consecutive deliveries. The overall incidence of malformations was 2.3%. Musculoskeletal system was the most commonly involved system. The incidence of malformation was higher in still borns, premature, low birth weight babies and those with positive heredo-familial history. It was also higher in babies, ...
Shaw Gary M - - 2004
BACKGROUND: There is a paucity of epidemiologic information about the external ear malformations anotia and microtia. METHODS: Using data from a large population-based registry, we explored prevalences and maternal/infant characteristics associated with anotia and microtia. Data were derived from the California Birth Defects Monitoring Program, a population-based active surveillance system ...
Bromiker R - - 2004
The aim of this work was to determine the impact of parental consanguinity on congenital malformations in a mixed urban and rural Arab community in Jerusalem, Israel. Arab mothers admitted to four hospitals in west Jerusalem were interviewed after delivery. Demographic and obstetric data were recorded. Neonatal data were extracted ...
Lutz Nicolas - - 2004
Sirenomelia, also called the mermaid syndrome is a severe malformation involving multiple organs and characterized by partially or completely developed lower extremities fused by the skin. The birth of a "mermaid" is very rare (1.2-4.2 cases for 100,000 births); most are stillborn, or die at or shortly after birth. The ...
Råsten-Almqvist Petra - - 2004
We survey the postmortem findings of cardiovascular malformations in infants under the age of 1 year who died suddenly and unexpectedly, in a way that mimicked sudden infant death syndrome (SIDS), and evaluate the importance of the malformation for the fatal outcome. Four hundred fifty-seven infants under the age of ...
Doyle Nora M - - 2004
Congenital diaphragmatic hernia (CDH) occurs in 1 of every 2000 to 4000 births and accounts for 8% of all major congenital anomalies. Recurrence risk for a subsequent pregnancy is estimated at 2%. The mortality rate for CDH when diagnosed antenatally, varies with fetal age and with the presence or absence ...
Saloojee Haroon - - 2004
The continued occurrence of congenital syphilis is an indictment of the inadequate antenatal care services and poor quality of programmes to control sexually transmitted infections. More than 1 million infants are born with congenital syphilis each year. Despite national policies on antenatal testing and the widespread use of antenatal services, ...
Schoellnast Helmut - - 2004
OBJECTIVE: To assess the value of urethral sonography including a perineal approach in evaluating urethral anomalies in infants. METHODS: A radiology database review identified 88 patients (mean age +/- SD, 64 +/- 84 days) who underwent voiding cystourethrography (VCUG) and urethral sonography as part of extended sonography of the urinary ...
Källén Karin - - 2004
Using a statistical methodology, we aimed to identify a group of probable cases of oculo-auriculo-vertebral (OAV) dysplasia and to investigate possible relationships between different patterns of congenital malformations. Among 5,260 infants with multiple malformations collected from 4 large registers of congenital malformations, we identified 312 probable OAV cases. With the ...
Scher Mark S - - 2004
Fetal neurologic consultations were provided to 166 maternal-fetal pairs over a 5-year period. Consultations were initiated during the second trimester in 46% (74/166) of pairs. Fifty-percent (83/166) of these consultations involved brain malformations, of which 55% (46/83) were also associated with other organ abnormalities. Brain malformations principally consisted of encephalocele, ...
Boltshauser Eugen - - 2004
Defining and classifying congenital disorders of the cerebellum can be difficult and confusing. One reason is that some abnormalities called "malformations" are not truly (primary) developmental malformations. This applies to Chiari I "malformations" as well as to Chiari II "malformations." The latter results mainly from a prenatal cerebrospinal fluid (CSF) ...
Synnes Anne R - - 2004
The objective of this study was to describe the congenital anomalies in 17 Canadian neonatal intensive care units (NICUs) and their impact on mortality, morbidity, and resource utilization. This study was performed using a database analysis of 19,507 consecutive admissions. Results show that 13.7% of admissions had one or more ...
Brent Robert L - - 2004
There have been amazing advances in embryology, teratology, reproductive biology, genetics, and epidemiology in the past 50 years that have provided scientists and clinicians with a better perspective on the causes of congenital malformations. We still cannot provide the families of children with malformations a definitive diagnosis and cause in ...
Satter E K - - 2004
We present a unique case of an infant with acute monocytic leukaemia who presented at birth with multiple rubbery, erythematous to violaceous subcutaneous nodules secondary to leukaemia cutis. As these infiltrates regressed with chemotherapy, numerous white to yellow linear confluent papules appeared in a scratch-like pattern. These lesions were widely ...
Archibong, AE; Department of ...
Between 1992 and 20012, 54 infants were attended to at the University of Calabar Teaching Hospital, the only tertiary referral center for paediatric surgery in Southeastern Nigeria. There was a male: female ratio of 1:1.5 and majority of the infants (75%) were born to teenage mothers of low socio-economic status. ...
Shaw Gary M - - 2004
Few population-based epidemiologic data are available on malformation phenotypes that co-occur with orofacial clefts. We explored the occurrence of structural congenital malformations in offspring with cleft palate (CP) and in offspring with cleft lip with or without CP (CLP), using data from a population-based active surveillance system. Ascertainment was performed ...
Gassner I - - 2004
Congenital anomalies of the female genital tract result from müllerian duct anomalies and/or abnormalities of the urogenital sinus or cloaca. Due to the close developmental relationship between the genital and the urinary tracts, association of anomalies in both systems are common. This article reviews the appearance of developmental anomalies of ...
Hynes P J - - 2004
The origin, extent and topographical relationships of the urethral plate and its role in the pathogenesis of developmental anomalies (bladder extrophy, epispadias and hypospadias) remain incompletely resolved. The commonly held view that the urethral plate (the forerunner of the urethra) arises through distal proliferation of the cells of the anterior ...
Ahmed S F - - 2004
BACKGROUND: Considerable debate exists on the epidemiology of genital anomalies. METHODS: All genital anomalies, excluding undescended testes, were identified from neonatal returns, stillbirth and infant death survey records, and returns relating to hospital admissions and linked to form infant profiles on a cohort of singleton births between 1988 and 1997 ...
Fairbanks Timothy J - - 2004
BACKGROUND/PURPOSE: Anorectal malformations occur in 1 per 4,000 live births and represent a surgical challenge. Although critically important, the basic mechanisms of normal anorectal union are incompletely understood. Fgf10 signaling is known to serve a key role in mesenchymal/epithelial interactions in many organ systems including the gastrointestinal tract (GIT). The ...
Wide K - - 2004
AIM: Antiepileptic drugs (AEDs) are known teratogens. Some specificity between different AEDs has been noted in the literature. The aim was to compare the teratogenic effect of valproic acid (VPA) and carbamazepine (CBZ) in monotherapy. METHODS: Infants exposed to AEDs (n = 1398) in early pregnancy were identified from the ...
Bajwa R P S - - 2004
AIMS: To determine the incidence and outcome of congenital leukaemia. METHODS: Retrospective population based study of putative leukaemia arising during the first 3 months of life over an 18 year period within the Northern Health Region of England. RESULTS: Nine infants with putative leukaemia were identified. Five had acute leukaemia ...
Salakhov Edward - - 2004
BACKGROUND: Congenital syphilis (CS) reports in Russia increased 26-fold from 1991 to 1999. Case reports included only infants who were clinical cases, had persistent serologic changes, or confirmed syphilitic stillbirth. Although not reported, policies stipulate that infants of inadequately treated or untreated mothers receive preventive penicillin treatment. GOAL: We examined ...
Martínez-Frías María Luisa - - 2004
BACKGROUND: The frequency of hypospadias is not uniform worldwide. Several countries have reported an increase in its frequency at birth. Although a better ascertainment of the minor forms has been considered as an explanation, the potential effect of environmental endocrine disrupters has also been proposed. We studied the secular trend ...
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 ...
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