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Results for “DEFECTS, CONGENITAL”

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PubMed1979

Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology.

The case is described of an infant who suffered from progressive, severe dystrophy, hemolytic and megaloblastic anemia, hematuria, proteinuria and slight uremia. He died at 4 months of age following two acute episodes of heart failure. Abnormally increased excretion of methylmalonate and homocystine was detected by our screening program for metabolic disorders. Amino acid analyses showed that the plasma and urine levels of methionine were very low whereas those of cystathionine were raised. Vitamin B12 deficiency, malabsorption or abnormal cobalamin transport were excluded by a normal serum total cobalamin and normal transcobalamins. These findings suggested a congenital error of cobalamin metabolism. Treatment with vitamin B12 resulted in a biochemical though not a clinical response. Postmortem examination revealed severe vascular lesions with changes in the kidney characteristic of thrombotic microangiopathy supporting a diagnosis of hemolytic-uremic syndrome. It is assumed that the elevated plasma homocysteine induced the vascular lesions by causing detachment of endothelium.

Blood Vessels↗

PubMed1977

Genetically mediated induction of drug-metabolizing enzymes associated with congenital defects in the mouse.

Various polycyclic aromatic compounds induce certain monooxygenase activities, including aryl hydrocarbon (benzo[a]pyrene) hydroxylase (EC 1.14.14.2), and cytochrome P1-450 in the liver and many nonhepatic tissues of the mouse. This induction process is controlled by the Ah locus. Genetic differences that have been shown in the past to be associated with the Ah locus include an increased susceptibility to chemical carcinogenesis, mutagenicity in vitro, and drug toxicity--manifested as hepatic necrosis, aplastic anemia, or shortened survival time. Pregnant mice received a single injection of 3-methylcholanthrene or 7,12-dimethylbenz[a] anthracene between day 5 and day 13 of gestation, and the uterine contents were examined on day 18. Striking increases were observed in the incidence of MC-1 and DMBA-induced resorptions and congenital malformations in the aromatic hydrocarbon "responsive" C57BL/6N inbred strain, and of DMBA-induced resorptions in the "responsive" C3H/HeN and BALB/cAnN strains--when compared with the similarly treated genetically "nonresponsive" AKR/N strain. These data suggest but do not prove that an association exists between the Ah locus and developmental toxicity, i.e., teratogenesis. Although numerous teratogenic differences among inbred mouse strains have previously reported, this study is unique in that the genetic differences in teratogenicity observed were predicted in advance on the basis of known differences among these strains in polycyclic hydrocarbon metabolism regulated by the Ah locus.

9,10-Dimethyl-1,2-benzanthracene↗

PubMedDate not supplied

Congenital vomeral bone defect.

Congenital anomalies of the nose is comprised of a broad spectrum of different types of malformations ranging from a minor alar cleft to total agenesia. Reports about congenital septal defects are few in literature. In this manuscript, we report on a 19-year-old male patient with a congenital defect on the posteroinferior portion of the septum. The defect was diagnosed by endoscopy and confirmed by computed tomography. This defect probably occurred because of an arrest in development of vomeral bone. The literature on this rare occurrence is reviewed, and the significance of the patient is discussed.

Adenoidectomy↗

PubMed1984

Different forms of AT-III congenital defect: a study by crossed immunoelectrofocusing.

Antithrombin III (AT-III) deficiency may be due to quantitative or qualitative AT-III reduction. The diagnosis of qualitative disorder is suspected when a discrepancy is found between immunological and functional levels of AT-III. Heterogeneity has been hypothesized in both quantitative and qualitative deficiency of AT-III. A technique based on crossed immunoelectrofocusing (CIEF) was applied to investigate molecular variants of AT-III. 3 families with low functional and immunological levels of AT-III and 1 family with only a low functional AT-III level were investigated. An abnormal AT-III pattern was found with CIEF in the family with suspected qualitative disorder and in 1 of the families with quantitative disorder. The 2 abnormal patterns were different. Thus the use of CIEF AT-III patterns could help to define congenital AT-III deficiencies and could serve as a basis for classification of different forms of AT-III deficiency.

Adult↗

PubMed2004

Unilateral pulmonary atresia with total sacral agenesis and other congenital defects.

Is there a common aetiologic element in the VACTERL syndrome and the caudal regression syndrome? We report a boy who fulfilled three criteria of the VACTERL association (he had thoracic hemivertebra, high anal atresia and tracheo-oesophageal fistula) but also could be classified as caudal regression syndrome on the basis of the anal atresia and total sacral agenesis. We discuss the arguments in favour of both diagnosis.

Abnormalities, Multiple↗

PubMed2004

[History of registration of prenatally and postnatally diagnosed congenital defects in the Czech Republic].

OBJECTIVE: Analysis of incidence of birth defects in general and the proportion of individual types of birth defects within the framework of registration of inborn defects in the period of 1961-2000 in the Czech Republic. DESIGN: A retrospective analysis based on registered birth defects from the material of Institute of Care for Mother and Child and IHIS from the period of 1961-2000. METHODS: The authors compared the real frequency of birth defects in the eighties and nineties with expected frequency calculated on the basis of mean values from the sixties and seventies. RESULTS AND CONCLUSIONS: The results between the expected and estimated values of the overall frequency of birth defects are based on two reasons. First of all there are changes in registration as such--increased numbers of registered types of birth defects, prolonged period of reporting the inborn defects up to 15 years old children, decreased levels of foetus viability and other factors. There is also the change of frequency caused by all-population changes (eradication of some infections, vaccination rate in the population, improved nutrition of the population, year-around availability of vitamins), the development of diagnostic methods (ultrasonographic methods) and, especially, the role of prenatal screening and prenatal diagnostic methods in practice.

Congenital Abnormalities↗

PubMed2002

Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.

Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare type of glycogen storage disease (GSD). It is caused by homozygous or compound heterozygous mutations within GLUT2, the gene encoding the most important facilitative glucose transporter in hepatocytes, pancreatic beta-cells, enterocytes, and renal tubular cells. To date, 112 patients have been reported in the literature. Most patients have the typical combination of clinical symptoms: hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy, and severely stunted growth. In 63 patients, mutation analysis has revealed a total of 34 different GLUT2 mutations with none of them being particularly frequent. No specific therapy is available for FBS patients. Symptomatic treatment is directed towards a stabilization of glucose homeostasis and compensation for renal losses of various solutes. In addition to the clinical and molecular genetic aspects of FBS, this review discusses the pathophysiology of the disease and compares it to recent findings in GLUT2 deficient transgenic animals. An overview is also provided on recently discovered members of the rapidly growing family of facilitative glucose transporters, which are novel candidates for congenital disorders of carbohydrate metabolism.

Age Factors↗

PubMed2002

[The possibility of discovering congenital defects before birth by means of prenatal ultrasound screening].

Ultrasound examination during pregnancy is now an essential part of modern obstetrical management. In many European countries women are offered 1-3 ultrasound examinations during their pregnancy. In Denmark a similar offer is available but only to a very limited extent. Ultrasound examinations are performed on medical reasons. Modern equipment, trained sonographers, and the increasing use of ultrasound scannings imply that a considerable number of fetal malformations are diagnosed. A very comprehensive literature is available describing the sensitivity of diagnosing a fetal malformation at different times during the pregnancy. In a number of studies the sensitivity within different organ systems has been given as well. Intrauterine treatment is afield with great development, in which the more invasive operative techniques are replaced by laparoscopic procedures.

Congenital Abnormalities↗

PubMed2004

Congenital defects in the interferon-gamma/interleukin-12 pathway.

PURPOSE OF REVIEW: The aim of this review is to highlight the most recent and relevant advances in the interferon-gamma/interleukin-12 pathway, a pivotal player of the immune system, and their repercussions on basic and clinical aspects of science. RECENT FINDINGS: Newly described mutations are helping us to dissect the interferon-gamma/interleukin-12 pathway and its role in genetic infectious susceptibility and autoimmunity, and to reevaluate the pathophysiologic mechanisms involved in dominant and recessively inherited mutations. SUMMARY: The interferon-gamma/interleukin-12 pathway plays a central role in immune control of both environmental and autochthonous challenges, as reflected in human mutations and animal models. Besides being crucial for mycobacterial control, the interferon-gamma/interleukin-12 pathway is also involved in the pathogenesis of autoimmune disease, as well as tumor development and control. Genotype-phenotype correlations have been established for certain mutants in this pathway, some of which have therapeutic implications.

Congenital Abnormalities↗

PubMed1987

Prenatal diagnosis and management of congenital defects of the anterior abdominal wall.

Between the years 1980 and 1985, 25 cases of anterior abdominal wall defects were identified within the University of Toronto Perinatal Complex. There were 17 cases of omphalocele and eight cases of gastroschisis. Associated anomalies were found in 71% of infants with omphalocele and 50% with gastroschisis. They were the major cause of neonatal death. Prematurity was the second most common cause of death. The neonatal death rate was 59% in omphalocele and 38% in gastroschisis; the prematurity rates were 53% and 50%, respectively. In omphalocele, there was a 47% cesarean section rate, with a 50% neonatal death rate. Vaginal delivery was associated with a 67% death rate. In gastroschisis, there was a 50% cesarean section rate, with a 50% neonatal death rate. Vaginal delivery was associated with a 25% death rate. There is no evidence that cesarean section offers improved neonatal survival.

Abdominal Muscles↗

PubMed1990

[Birth weight of infants born without congenital defects. II. Effect of tobacco and parity of the mother on the wight of the newborn infant].

We analyzed the effect that number of gestations, smoking and number of cigarettes per day during pregnancy have on the birthweight using a sample of 14,097 liveborns without birth defects identifiable within the first three days of life. To our purposes, we controlled the effect of gestational age, sex and maternal age through multiple regression analysis. From the results we concluded that the birthweight is increased 39.80 g per each pregnancy of mothers, showing a progressive but smoothed increase by a negative quadratic effect. Smoking in mothers decreases the weight of newborns and has no effect on the gestational age. The decrease of birthweight was stronger when we looked at the number of cigarettes per day, showing a diminishing trend when the number of cigarettes per day, showing a diminishing trend when the number of cigarettes is increased, but again smoothed by a positive quadratic effect. From the multiple regression analysis controlling some factors we got a formula that permitted to us to estimate the average in decreasing weight depending on the number of cigarettes that mother smokes during pregnancy.

Birth Weight↗

PubMed1988

Congenital defects in the offspring of male mice treated with ethylnitrosourea.

Daily doses of ENU (25-100 mg/kg) were injected intraperitoneally into ICR strain male mice for 5 days. The males were mated to untreated virgin females of the same strain on days 1-16 and 64-80 after the last dose. Copulations during these periods involve, respectively, treated postmeiotic cells and spermatogonial stem cells. The uterine contents were examined on day 18 of pregnancy for evidence of dominant lethal effects. The fetuses were examined for external and skeletal abnormalities. ENU treatment of either postmeiotic cells or spermatogonial stem cells caused dose-dependent significant increases in the incidence of abnormal fetuses over the control level. The induction rate per live fetus per unit dose in mg/kg by treating spermatogonial stem cells was estimated to be 1.0 X 10(-4), which is 3-fold lower than the rate previously estimated for the same endpoint at the same germ cell stage with MNU. Cleft palate was the most frequent external abnormality in the ENU-treated and the control series. Malformed vertebrae was the most frequent skeletal abnormality in the treated series. Rib fusion was the only skeletal malformation seen in the control series. Dominant lethals were clearly induced when germ cells were treated as postmeiotic cells.

Animals↗

PubMed1999

Results of 102 cases of complete repair of congenital heart defects in patients weighing 700 to 2500 grams.

BACKGROUND: Published data suggest that low birth weight is a risk factor for poor outcome in corrective surgery for many cardiac defects. Congenital heart defects in low birth weight infants are typically managed with supportive therapy or palliative operations, with definitive repair delayed. The morbidity associated with such approaches is high. METHODS: Since 1990 complete repair of congenital heart defects (other than patent ductus arteriosus) has been performed in 102 infants no larger than 2500 g (median 2100 g, range 700-2500 g), including 16 no larger than 1500 g. Defects included ventricular septal defect (n = 22), tetralogy of Fallot complexes (n = 20), transposition complexes (n = 13), aortic coarctation (n = 12), interrupted arch (n = 10), truncus arteriosus (n = 8), atrioventricular septal defect (n = 6), total anomalous pulmonary venous return (n = 5), and other (n = 6). RESULTS: Preoperative morbidity was more common among patients referred late for surgical correction. There were 10 early deaths (10%) attributable to cardiac failure (n = 4), arrhythmia (n = 1), multiorgan failure (n = 1), sepsis (n = 1), idiopathic coronary artery intimal necrosis (n = 1), foot gangrene (n = 1), and pulmonary hemorrhage (n = 1). No patient had postbypass intracerebral hemorrhage. At follow-up (median 36 months) there were 8 late deaths, and 8 patients underwent 10 reinterventions. There was no evidence of neurologic sequelae attributable to the operation. CONCLUSIONS: In general, delaying repair of congenital heart defects in low birth weight infants does not confer a benefit and is associated with higher preoperative morbidity. Complete repair of both simple and complex lesions can be achieved in such cases with good results. Growth after repair approximates the normal curve for low birth weight infants without heart disease. It is recommended that such infants, especially when they have symptoms, undergo early surgical repair rather than prolonged medical management or other forms of palliation.

Actuarial Analysis↗

PubMed1957