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Results for “DEFECTS, CONGENITAL”

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At least 433 records · Page 24Linked to original sources
PubMed1991

Normal thyroglobulin and thyroperoxidase gene expression in thyroid congenital defective thyroglobulin synthesis.

We have studied a member (JBM) of a family MO previously described, with congenital goiter, hypothyroidism, and presence of hyposialylated Tg in the follicular lumen. Other congenital goiters (MA and JNA) with virtual absence of Tg were studied similarly. The presence of apparently normal-sized Tg in JBM tissue was confirmed in the present study by radioimmunoassay, Sephacryl S300 column chromatography, immunoelectrophoresis, and SDS agarose gel electrophoresis. Dot blot hybridization analysis with Tg and TPO probes indicated that mRNA hybridization levels of JBM tissue were similar to control thyroid tissues. Congenital goiter tissues showed relatively lower TSH receptor mRNA content in comparison with normal thyroid tissues. DNA was digested with five restriction endonucleases (Taq I, Eco Rv, Pvu II, Pst I, and Eco RI), and the results revealed polymorphisms previously described with the Tg gene. No significant differences in the TPO Pst I pattern were observed in comparison with control samples. We conclude that no major alterations of the Tg and TPO gene expression are detectable and that no significant deletions of these genes are present. The biochemical abnormality in the JBM Tg molecule may be a posttranslational error during the assembly of the protein.

Blotting, Northern↗
PubMed1999

[Congenital defects of antithrombin III and proteins C and S during pregnancy].

We report 10 patients with congenital deficiencies of the natural anticoagulant proteins S, C and antithrombin III. Thirteen of a total of 30 pregnancies were managed at the perinatal branch of our department. We discuss the mechanism of action of these proteins and their role in thrombotic events. We analyze the most frequent thrombotic complications and we discuss the general guidelines for the investigation of a patient with a suspected congenital thrombophilia with special regard to its management during pregnancy, delivery and perinatal outcome.

Adult↗
PubMed1987

Temporal relations between maternal rubella and congenital defects.

The Time relations between maternal rubella infection in pregnancy and the presence and type of defects in the children were determined from the records of 422 children with confirmed congenital rubella, registered in the National Congenital Rubella Surveillance Programme. In the 106 children born after laboratory-proven maternal infection, no defects were recorded following infection after the 17th week of pregnancy, but in the remaining 316 children defects followed infection reported to be as late as 33 weeks. The striking difference underlines the importance of serological investigation of pregnant women who present with a rash or a history of contact with rubella. With proven infection later than the 16th week the risk of fetal damage seems to be very small. Of 148 children followed up to school age, 40 (27%) attended normal schools.

Abnormalities, Multiple↗
PubMedDate not supplied

The use of national health registers for studying environmental causes of congenital defects.

This review summarizes and discusses the use of central health registers in studies of causes of congenital malformations. The review is illustrated using data from the Swedish Medical Birth Register with adjacent registers and gives examples of different methods to identify environmental exposures. The review stresses the usefulness of this approach but also the inherent problems of which the researcher must be fully aware.

Congenital Abnormalities↗
PubMedDate not supplied

Basilar artery giant fusiform aneurysms caused by congenital defect of the internal elastic lamina and media.

Giant fusiform aneurysms of the basilar artery were found in a 6-year-old boy who subsequently died after rupture of the aneurysm, and in a 64-year-old man who showed signs of ischemia and compression of the brain stem. Autopsy disclosed strikingly similar abnormalities of the wall of the basilar artery, consisting of a defect of the internal elastic lamina and absence of the media. A congenital anomaly may play a role in the pathogenesis of this abnormality, in both young and some elderly patients.

Basilar Artery↗