[The occurence of genetic trombophilic markers in patients evaluated for infertility]. / Výskyt vybraných geneticky podmínených trombofilních markeru u pacientek podstupujících lécbu neplodnosti.

OBJECTIVE: To assess and compare the frequency of selected gene mutations of thrombophilic markers (FV Leiden, FII prothrombin G20210A and MTHFR C677T) in patients with primary and secondary infertility. DESIGN: Retrospective study. SETTING: Institute of normal anatomy, Faculty of Medicine and Dentistry, Palacky University Olomouc. METHODS: The study included 92 patients with primary infertility and 89 patients with secondary infertility. Indications for examination of these mutations were following: a positive family or personal history, a positive obstetrical history or a repeated failure of assisted reproduction treatment. RESULTS: According to our anticipation, women with the secondary infertility were significantly older(p < 0.0005) than those with primary infertility. No mutations of genes of examined thrombophilic markers (FV, FII and MTHFR), either alone or in combination, were found in only 8.7 % patients with primary infertility and in 5.6 % patients with secondary infertility. Significantly higher frequency of factor Leiden(p < 0.02) was observed in women with secondary infertility. There were no significant differences in the frequency of detected mutations of the remaining factors. CONCLUSION: Based on our findings we suggest that the assessment of selected gene mutations of thrombophilic markers should be a part of the diagnostic algorithm in patients with positive history for thrombophilic disorders.

The incidence of metabolic syndrome in obese Czech children: the importance of early detection of insulin resistance using homeostatic indexes HOMA-IR and QUICKI.

Common alimentary obesity frequently occurs on a polygenic basis as a typical lifestyle disorder in the developed countries. It is associated with characteristic complex metabolic changes, which are the cornerstones for future metabolic syndrome development. The aims of our study were 1) to determine the incidence of metabolic syndrome (based on the diagnostic criteria defined by the International Diabetes Federation for children and adolescents) in Czech obese children, 2) to evaluate the incidence of insulin resistance according to HOMA-IR and QUICKI homeostatic indexes in obese children with and without metabolic syndrome, and 3) to consider the diagnostic value of these indexes for the early detection of metabolic syndrome in obese children. We therefore performed anthropometric and laboratory examinations to determine the incidence of metabolic syndrome and insulin resistance in the group of 274 children with obesity (128 boys and 146 girls) aged 9-17 years. Metabolic syndrome was found in 102 subjects (37 %). On the other hand, the presence of insulin resistance according to QUICKI <0.357 was identified in 86 % and according to HOMA-IR >3.16 in 53 % of obese subjects. This HOMA-IR limit was exceeded by 70 % children in the MS(+) group, but only by 43 % children in the MS(-) group (p<0.0001). However, a relatively high incidence of insulin resistance in obese children without metabolic syndrome raises a question whether the existing diagnostic criteria do not falsely exclude some cases of metabolic syndrome. On the basis of our results we suggest to pay a preventive attention also to obese children with insulin resistance even if they do not fulfill the actual diagnostic criteria for metabolic syndrome.

[Carcinoid and its cardiac manifestation]. / Karcinoid a jeho kardiální manifestace.

A case report concerning patient diagnosed with a rare carcinoid showing typical symptoms is presented. Although essentially a cancer disease, this condition usually shows slow progression and tends to follow a favorable course with good prognosis if treated properly, assuming patients reasonable compliance. We intend to highlight its typical clinical picture as well as the rarely occurring cardial manifestation leading to rapid progression and ultimately fatal outcome in a non-compliant patient who preferred alternative to evidence based medicine.