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Acid mucopolysaccharides of congenitally defective, rheumatic, and normal human aortic valves.

The qualitative nature, total amount, and relative proportion of various acid mucopolysaccharides (AMPSs) found in congenitally defective (bicuspid), young rheumatic, and normal aortic valvular tissue were compared. No differences in the qualitative nature of AMPSs were found in any of the aortic tissues studies; hyaluronic acid, chondroitin sulfate B, and chondroitin sulfate A/C were the primary AMPS components, with a trace amount of heparin. Congenitally defective aortic valves showed increasing amounts of calcification, a lowering of total AMPS content, and an alteration in the relative proportions of various AMPS with advancing age, as compared with age-matched normal aortic valves. The total AMPS content of rheumatic aortic valves from individuals under the age of 21 years was found to be significantly higher than that of age-matched normal controls. In addition, these rheumatic aortic valves showed an alteration in AMPS composition that was similar to that of congenitally defective aortic valves obtained from older individuals. These observations suggest nonspecific changes in the AMPS composition caused by chronic tissue damage, calcification, and fibrosis.

Adult↗

Community diagnosis of maternal exposure to risk factors for congenital defects.

OBJECTIVES: This paper describes a community diagnosis of maternal exposure to risk factors for congenital defects in the population of Pelotas, RS, Brazil (400000 inhabitants). The authors investigated biological and demographic factors (maternal age, alcohol ingestion and smoking), social and economic factors (family income and type of work), and welfare factors (prenatal care, illnesses during pregnancy, drug therapy, and vaccinations). These factors were matched up with the Decalogue for Prevention of Congenital Defects recommended by the Latin American Collaborative Study of Congenital Malformations. METHODS: Data were collected in a population-based study in which mothers were interviewed in the hospitals of Pelotas, RS, during 1995. On each day, the first 3 women to give birth were interviewed in every city hospital. The sample resulted in a total of 3219 interviewed women. RESULTS AND CONCLUSIONS: Low-income groups are most exposed. They present the following potential risk factors: (a). outside the ideal age range for pregnancy; (b). fewer prenatal care appointments; (c). no prevention against rubella through vaccinations, and (d). more cigarette smoking. In the high-income groups, the potential risk factors were: (a). drug therapy (more common) and (b). more women working outside the home. We did not find any difference among social classes concerning: (a). illnesses during pregnancy and (b). ingestion of alcohol. When a general risk score was used, this figure was higher in the group of women who were not within ideal age for pregnancy. However, there was no difference among social classes. This has led us to conclude that delayed childbearing is a global risk whereas each social class has its own risks.

Adolescent↗

Congenital defects of respiratory system among the children hospitalized in the clinic in years 1983-1989.

Congenital defects of respiratory system in children constitute a small percentage of all innate defects. In 1983-1989 in the Clinic Pulmonology and Allergology Medical School in Warsaw hospitalized 2522 children. Authors recognized the congenital defects of respiratory system in 29 cases. The opinions of authors only a complex diagnostic examinations makes it possible in most of the cases to rapidly correct diagnosis and choose proper treatment.

Child, Preschool↗

[Comparative study of weight, length and congenital defects before and after water fluoridation in Valparaiso].

The purpose of this study was to establish any statistical significance between weight, length and congenital defects in births occurred before and after fluoridation in Valparaiso-Chile. A review was performed over 4.899 controlled births occurred in the Naval Hospital of Valparaíso during both periods (Before = 1983-84 and after = 1987-88). The results were analysed statistically by mean significance test (alpha = 0.05). In contrary to other studies, no difference were determined between births weight mean and birth length mean, by sexes, before and after fluoridation. No congenital defects (Down's syndrome, intraventricular septal defects and cleft lips) were associated with fluoridated water.

Body Height↗

[Role of bacterial lipopolysaccharide pyrogenal in the development of congenital defects in embryos of second-generation Syrian hamsters].

Effect of bacterial lipopolysaccharide (pyrogenal) on development of golden hamster embryos of the second generation has been studied. The female hamsters are given pyrogenal once--intramuscularly 500-625 mpd/kg on the 9th-14th day of pregnancy. The embryos of the second generation are examined on the 15th day of pregnancy. The external observation is performed, body mass is estimated, state of the internal organs is studied. Death and congenital defects of development are essential among the embryos after implantation. Among alive embryos the congenital defects are noticed in 30% of cases, among the dead ones--in 63%. In the control group the congenital defects are found in 1.7% of cases.

Abnormalities, Drug-Induced↗

Biochemical screening for congenital defects.

This article discusses biochemical screening for congenital defects. Biochemical screening remains the standard for estimating the risk of aneuploidy in pregnancy. The combination of first and second trimester markers promises to further improve diagnostic accuracy for anomaly detection.

Abdominal Wall↗

Congenital defects of the vomer.

Six cases of congenital defect of the vomer, a rare nasal anomaly, are reported. All 6 patients visited Kobe University Hospital with other complaints, and the anomaly was incidentally detected. In all cases, the nasal septum showed a defect at the posteroinferior portion that appeared to coincide with the location of the vomer. None of the patients had a past history of nasal trauma, nasal surgery, drug abuse, or infectious disease. This anomaly may be attributable to an embryological disorder based on an immature ossification center of the vomer.

Adult↗

[Correction of transposition of great vessels with and without associated congenital defects. Description of two clinical cases].

We describe two cases of corrected transposition of great vessel (L Transposition). The first case was diagnosed in a man of 70 years old and was not associated with other congenital defects. The second case regards a young man of 16 years old and congenital cardiopathy was associated with interventricular defect and left Ebstein disease. We discuss the different evolution of L Transposition according to the presence or not of other congenital defects and we analyse right ventricle behaviour when it is submitted systemic pressure. In the literature only 26 cases of L Transposition were described in patients over 40 years old. The first case represents a rarity and it shows how in the absence of associated congenital defects, the right ventricle is able to adapt to systemic pressure. Bidimensional echocardiography in the method of choice to diagnose and evaluate congenital cardiopathy in adult age.

Abnormalities, Multiple↗

A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus.

This study was designed to evaluate the effects of maternal obesity and diabetes mellitus on the risk of nonchromosomal congenital defects. We used data from 22,951 pregnant women enrolled in a prospective cohort study of early prenatal exposures and pregnancy outcome. The relative risks [prevalence ratios (PRs)] of major nonchromosomal congenital defects associated with obesity and diabetes, alone or in combination, were calculated using multiple logistic regression analysis. In this study, in the absence of diabetes, obese women (body mass index > or =28) had no higher risk, overall, of having an offspring with a major defect [PR = 0.95; 95% confidence interval (CI) = 0.62-1.5]. Their offspring, however, did have a higher prevalence of certain types of defects, including orofacial clefts; club foot; cardiac septal defects; and, to a lesser extent, hydrocephaly and abdominal wall defects. Women with pre-existing or gestational diabetes who were not obese also had no excess risk overall of having offspring affected by a major defect (PR = 0.98; 95% CI = 0.43-2.2), although they did have a higher prevalence of musculoskeletal defects. The pregnancies of women who were both obese and diabetic were 3.1 times as likely (95% CI = 1.2-7.6) to result in an offspring with a defect than were those of nonobese, nondiabetic women, which suggests that obesity and diabetes mellitus may act synergistically in the pathogenesis of congenital anomalies. The defects were largely craniofacial or musculoskeletal.

Adult↗

Frequency of congenital defects and dominant lethals in the offspring of male mice treated with methylnitrosourea.

ICR strain male mice were injected intraperitoneally with daily doses of MNU (5-25 mg/kg) for 5 days and mated to untreated virgin females of the same strain on days 1-7, 8-14, 15-21 and 64-80 after the last dose. Copulations during these periods involve, respectively, spermatozoa, late spermatids, early spermatids, and spermatogonial stem cells at the time of the last treatment. The uterine contents were examined on day 18 of pregnancy for post-implantation losses (dominant lethality). Fetuses were examined for external and skeletal abnormalities. In contrast to the results reported for specific-locus mutations, MNU treatment of either postmeiotic cells or spermatogonial stem cells caused dose-dependent significant increases in the incidence of congenital defects and of dominant lethals over the control levels. The relative sensitivity of germ cells sampled on days 1-7, 8-21 and 64-80 to MNU-induced congenital defects was 1:1.6:2. For the induction of dominant lethals, the sensitivity ratio was 1:1.8:0.5. It is proposed that congenital defects in the offspring of mice following paternal treatment with MNU may represent mostly chromosomal rather than genic changes. Cleft palate was the most frequent of the external abnormalities, which were significantly induced in every treatment series; fused ribs were the most frequent of the skeletal abnormalities, which were significantly induced in the treatment series for spermatogonial stem cells.

Abnormalities, Drug-Induced↗