Search Results
Results 301 - 350 of 1131
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Pharoah Peter O D - - 2005
Congenital anomalies are a major cause of fetal and neonatal death and of childhood morbidity. Chromosomal and other genetic abnormalities, environmental teratogens and some nutritional deficiencies account for some congenital anomalies but the majority are of unknown etiology. The hypothesis is here proposed that a significant proportion of congenital anomalies ...
- - 2005
In 2004, an independent panel convened by CDC declared rubella no longer endemic in the United States. Nine cases of rubella were reported in 2004, and four cases of congenital rubella syndrome (CRS) were reported during 2001-2004. However, worldwide, an estimated 100,000 infants are born with CRS annually. This report ...
Häberle Johannes - - 2005
Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. We report on two unrelated newborns who had congenital human glutamine synthetase deficiency with severe brain malformations resulting in multiorgan failure and neonatal death. Glutamine was largely absent from their serum, urine, and ...
Chan Y-C - - 2005
We report two female infants with congenital midline supraumbilical raphes who subsequently developed haemangiomas on the lower lip and gingiva within the first 2 months of life. One was found to have a subglottic haemangioma during laryngoscopy. The infants were otherwise well and had normal chest X-ray, echocardiogram, cranial ultrasound, ...
Sangtawesin Varaporn - - 2005
BACKGROUND: Syphilis remains an important sexually transmitted disease and continues to be an important problem in Thailand. Despite the clinical efficiency of penicillin in the treatment of pregnant patients with syphilis, infants with congenital syphilis are still encountered. Congenital syphilis poses significant challenges for the clinician because infants may be ...
Deshpande S A - - 2006
To determine whether infants with isolated minor anomalies of the external ear are at increased risk of renal malformations. Consecutive infants with isolated minor anomalies of the external ear (preauricular skin tags, preauricular sinuses, ear pits, and misshapen pinnae) were offered renal ultrasonography by experienced sonographers over a 41 month ...
Hahnemann Johanne M D - - 2005
We report on a liveborn infant with trisomy 10 mosaicism combined with maternal uniparental heterodisomy for chromosome 10. The mosaicism 47,XY,+10/46,XY was found in five different tissues, including one blood sample, while cultured lymphocytes from two other blood samples showed a normal karyotype, 46,XY. DNA analysis with six PCR-based microsatellite ...
Hofstaetter C - - 2005
We report on two siblings who presented prenatally with a ductus venosus (DV) that was abnormally located between the middle hepatic vein (mHV) and the proximal inferior vena cava (IVC), and with hepatomegaly. The first case presented with polyhydramnios at 33 weeks and therapeutic amniocentesis resulted in premature delivery soon ...
Fraser Nia - - 2005
A premature infant with a unique form of tracheal agenesis is described. The combination of difficulty in intubation, abnormal course of the nasogastric tube on plain x-ray, and gastric perforation raised the suspicion of an upper airway malformation. Tracheal agenesis is an extremely rare, typically fatal, congenital anomaly with scattered ...
Palmer Stephen R - - 2005
Concern that living near a particular landfill site in Wales caused increased risk of births with congenital malformations led us to examine whether residents living close to 24 landfill sites in Wales experienced increased rates of congenital anomalies after the landfills opened compared with before they opened. We carried out ...
Agarwal Salil - - 2006
Tracheal agenesis is a rare and uniformly lethal congenital malformation. It presents with severe respiratory distress at birth. In this anomaly there is a congenital absence of the trachea and the bronchus communicates with the esophagus. The diagnosis should be suspected in newborn infant with respiratory distress whose intubation is ...
Dolk H - - 2005
The surveillance of congenital anomalies serves two main purposes: to facilitate the identification of teratogenic (malformation causing) exposures and to assess the impact of primary prevention and prenatal screening policy and practice at a population level. EUROCAT, the European network of population based registers for the epidemiological surveillance of congenital ...
Rankin J - - 2005
AIMS: To describe trends in total and live birth prevalence, regional differences in prevalence, and outcome of pregnancy of selected congenital anomalies. METHODS: Population based registry study of 839,521 births to mothers resident in five geographical areas of Britain during 1991-99. Main outcome measures were: total and live birth prevalence; ...
Maiya Shreesha - - 2005
We report a case of a 4-week-old male infant who presented with increasing respiratory distress and was diagnosed to have bilateral congenital lobar emphysema on chest x-ray. Our approach to the surgical management in two sequential operations of left upper lobectomy followed by right middle lobectomy is discussed.
Al Hosani H - - 2005
The National Congenital Anomalies Register is a population-based register covering all births in the United Arab Emirates. We evaluated the progress of the register and determined the prevalence of congenital anomalies (CAs) and associated maternal and neonatal risk factors. Total prevalence of CAs for 1999-2001 was 7.89/1000, 10.95/1000 and 7.92/1000 ...
Finnigan Daniel F - - 2005
BACKGROUND: Atresia Ani (AA) is one of the most common malformations of the lower gastrointestinal tract. It occurs in 1 in 1500 to 1 in 5000 human births. These patients suffer physically and psychologically from this disorder, and thus there is a research interest in the condition. There are 3 ...
Bonnet Damien - - 2005
The respiratory syncytial virus is the most common cause of infection of the lower respiratory tract in infants and young children, and is the leading cause of hospitalisation and death due to viral illness during the first year of life. In otherwise healthy infants, the virus usually causes only mild ...
Al-Katawee Yousef A - - 2005
Although congenital varicella-zoster virus VZV infection is rare, it carries serious morbidity and mortality to the fetus and newborn infant. We report a full term female newborn infant, born to a multipara unbooked mother who had VZV subclinical infection during the first trimester of pregnancy. Routine newborn examination showed cystic ...
Kelly Amy - - 2005
BACKGROUND: Intracranial arteriovenous fistulas (AVFs) are rare in childhood. AVFs in fetuses are very rare and usually not associated with the vein of Galen. These can be solitary or multiple and may be associated with aneurysms or AVMs. The presentation of an AVF depends on the age of the patient, ...
Hsieh C C - - 2005
OBJECTIVE: We evaluated the outcome of fetuses diagnosed with having congenital cystic adenomatoid malformation (CCAM) on ultrasonographic examination and managed conservatively. METHODS: A retrospective study of 19 cases of CCAM diagnosed antenatally in our hospital was conducted between 1990 and 2001. Complete clinical information was available for all patients, with ...
Travitz Julie - - 2005
Malformations surveillance programs of newborn infants have been developed as a method for identifying serious and relatively common birth defects. The virilization of newborn infants with the classic 21-hydroxylase form of congenital adrenal hyperplasia must be identified early if the associated metabolic crisis in the perinatal period is to be ...
Källén Bengt - - 2005
BACKGROUND: The possible excess of congenital malformations in infants born after in vitro fertilization (IVF) has been much discussed in the literature, with controversial conclusions. This population based study is aimed at analyzing the presence of congenital malformations in a large group of infants born after IVF and to compare ...
Goldstein Israel - - 2005
OBJECTIVE: Hemivertebra is a rare congenital spinal anomaly where only one side of the vertebral body develops, resulting in deformation of the spine, such as scoliosis, lordosis, or kyphosis. We aimed to determine the incidence and clinical characteristics of hemivertebra. PATIENTS AND METHODS: We present three fetuses with a prenatal ...
Kazy Zoltán - - 2005
The objective of the study presented here was to check the effect of oral ketoconazole treatment on fetal development. Ketoconazole has been given a teratogenic classification of C by the US Food and Drug Administration, but human controlled epidemiological studies of the treatment's effects have not been reported. The occurrence ...
Tomiyama Hideki - - 2005
Cryptorchidism is the commonest congenital genitourinary anomaly in males and results when the testis does not descend into its normal intrascrotal position during development. In full-term infants, the incidence is approximately 3% at birth. Cryptorchidism results in several abnormalities, including attenuated spermatogenesis, infertility and a greater risk of malignancy. The ...
Merlob Paul - - 2005
Evidence has emerged that assisted reproduction technology (ART) may be associated with an increased risk of congenital malformations, low birth weight, and genetic imprinting disorders. The aim of the study was to determine, the prevalence of major malformations in newborns conceived by standard in vitro fertilization (IVF) in 1986-1994 and ...
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 ...
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