Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic.

Medullary thyroid carcinoma (MTC) occurs as a sporadic form (75%) or as an autosomal dominant inherited familial disorder (25%) called familial MTC (FMTC) or as multiple endocrine neoplasia type 2 (MEN2) syndromes. Germ-line mutations in the rearranged during transfection (RET) proto-oncogene in exons 10, 11, 13, 14, 15 and 16 are known to be a cause of most of the familial forms. In this paper we report molecular genetic testing of 106 families with MTC (358 tested persons) from the Czech Republic in which we directly sequenced these six exons of the RET proto-oncogene.

[Ret proto-oncogene mutation found in the Czech population and its predictive value for offspring of patients with medullary carcinoma of the thyroid gland].

The authors completed a total of 23 pedigrees with the clinical diagnosis of medullary thyroid carcinoma (5 MEN 2A pedigrees, 11 FMTC pedigrees and 7 MTC pedigrees). Using the method of polymerase chain reaction (PCR), it was possible to define the rate of the most frequent mutations in exons 10, 11 and 16 of Ret-protooncogene present in the Czech population. The most frequent hereditary mutation found in MEN 2A and FMTC groups is substitution of thymine for cytosine in position 2095 of the transmembranous domain of the Ret-tyrosine kinase gene.

[The effect of gender on prevalence and survival in thyroid carcinoma].

Based on their own experience with a large group of patients with thyroid cancers, the authors confirm the higher prevalence of differentiated thyroid cancers both papillary and follicular (1 : 3,5) in females, while the differences in anaplastic and medullary cancers are much less prominent. Survival of females in univariate studies is much higher in both papillary and follicular cancers compared to males, in multivariate studies these differences lose their significance and only in papillary cancers under the age of 40 years at diagnosis and in a subgroup of papillofollicular cancers the differences retain their significance. The authors therefore deduce that differences found in univariate studies are significantly influenced by other factors such as age at the diagnosis and the spread of disease at the diagnosis.

[Changes in bone metabolism in girls with Turner's syndrome].

Background: Data of the prevalence of osteoporosis in girls with Turner's syndrome are not uniform, and its causes have not been fully elucidated. Information on the mineralization of osseous tissue is controversial. The objective of the present work was to examine some more recent indicators of bone metabolism in a group of girls with Turner's syndrome.

Osteocalcin in congenital adrenal hyperplasia.

Osteocalcin in the serum reflects bone turnover. It is known that prolonged therapy with glucocorticoids inhibits bone turnover. The aim of this study was to evaluate the osteocalcin level in children with congenital adrenal hyperplasia treated by glucocorticoids and mineralocorticoids and to assess the influence of 1,25(OH)2D3.