[Myocardial infarction of rare etiology in a young adult]. / Ritka etiológiájú fiatalkori szívinfarktus.

Chest pain is not uncommon among young patients below the age of 35 years, however, it is rarely caused by acute coronary syndrome. The rarity of coronary artery occlusion in this population can easily lead to diagnostic mistakes. The authors present the case history of a 19-year-old young female, who was admitted to the emergency department of a local hospital due to the sudden onset of chest pain and malaise. ST-segment elevation was seen on the electrocardiogram raising the possibility of aortic dissection, therefore, emergency thoracic computed tomographic scan was performed. This proved to be negative and the patient was transferred to the coronary care unit. Urgent coronarography was carried out, which revealed the total occlusion of the left main coronary artery. The occluded artery was successfully opened with percutaneous coronary intervention, but despite revascularisation the patient died on the second postoperative day due to asystole. Autopsy revealed thrombotic embolization of the left main artery with consequent extensive haemorrhagic necrosis, involving almost the whole left ventricle. The source of embolization was not found. The authors note that left coronary artery occlusion in young patients can be a diagnostic challenge, because symptoms can be mistaken with aortic dissection or pulmonary embolism.

[Pure 46,XY gonadal dysgenesis]. / 46,XY tiszta gonáddiszgenezis.

The authors report a rare case of pure 46,XY gonadal dysgenesis (Swyer syndrome). Swyer syndrome is associated with 46,XY karyotype, primary amenorrhea as well as the presence of female internal genital tract and bilateral streak gonads in a phenotypic female. The genetic background of this syndrome includes mutations of several genes involved in the testis differentiation cascade. Mutation of the SRY gene accounts for only 10-15% of all 46,XY gonadal dysgenesis cases while the majority cases may be linked to other deficient genes involved in the sex differentiation pathway. The patient was a 16-year-old female who was referred for endocrinological evaluation because of primary amenorrhea. Physical examination revealed a phenotypic female, height 166 cm, weight: 56.5 kg, breast and pubic hair development were Tanner I. and II, respectively. She had female external genitalia. Pelvic magnetic resonance imaging showed a hypoplastic uterus and ovaries at both sides measuring 5×10 mm in size. Chromosomal analysis revealed 46,XY karyotype. Analysis of the SRY and SF1 genes showed no mutations. Serum follicle-stimulating hormone and luteinizing hormone were elevated. Serum tumor marker concentrations were normal. Prophylactic bilateral gonadectomy was performed and histological examination showed bilateral streak gonads. Hormone replacement therapy produced development of secondary sexual characters and 1.5 years after treatment the patient had menarche. Authors conclude that karyotype analysis should be performed in adolescent with primary amenorrhea. After establishment of the diagnosis, dysgenetic gonads should be removed because of the high risk of gonadal neoplasia.

[Prevalence of celiac disease in Turner syndrome]. / Coeliakia prevalenciája Turner-szindrómában.

INTRODUCTION AND AIM: Percentage of coeliac disease among patients with Turner syndrome is given differently in a few publication. The aim of the study was to assess prevalence of celiac disease in Turner syndrome. PATIENTS AND METHODS: Serological screening of coeliac disease were performed in 63 patients with Turner syndrome during the last 11.5 years (since 1994). Serological investigations were repeated yearly since 2003 in all patients, and the results of screening of new patients were completed. Theirs first case of coeliac disease was announced in 2004 in Gyermekgyógyászat (Hun). Further positive serological results were found after publication of the first case. RESULTS: Positive results were found in seven of 63 patients (two EmA and five antitransglutaminase IgA positivity). Intestinal biopsy was applied in all 7 cases. Coeliac disease was revealed by histologic analysis in the five cases - 5/63 (7.9%). CONCLUSION: The prevalence of coeliac disease in Turner syndrome seems to be higher than in general population. This can play role in the insufficient effect of growth hormone therapy in the affected patients. The high prevalence indicates that the connection between these disorders can not be coincidental. Their cases and the available data from the publications indicate that screening of coeliac disease in patients with Turner syndrome should be performed and intestinal biopsy is recommended in positive cases.

[Changing trends in breast surgery over a five year period (1998-2002)--a retrospective analysis]. / Az emlosebészet változása, ot ev (1998-2002) retrospektív elemzése alapján.

Today's development in breast cancer surgery are characterized by the principle of the smallest necessary intervention in contrast with the radicality of the past. To achieve this goal the primary and crucial task is the recognition of early (stage I or II) breast cancer. The National Screening Program started 2002 provides ideal conditions. The authors present a five year (1998-2002) retrospective analysis of breast preserving surgery: over the period 861 operations were performed on breast cancer patients with an average of 46.5% of them with breast conservation. Complications after unnecessary axillary lymph node dissection occurred with a high incidence rate (60%); the authors suggest sentinel node identification and detection performed to avoid these complications. In the "early years" (1998-2001) only 15 preoperative wire-loop markings were performed in patients with non-palpable malignant lesions, whereas from 2002--owing to the National Screening Program--68 such interventions were carried out providing the immense importance of nationwide screening.

[The role of repeated biopsies in prognosis of prostate cancer]. / Prostatadaganat prognózisának vizsgálata ismételt biopszia segítségével.

INTRODUCTION: The treatment of prostate cancer is still controversial. One of the most common treatment form is the use of LHRH analogs, but its way of action is still not cleared enough. AIMS: The aim of this study was to determine the predictive value of some histological and immuno-histochemical parameters based on repeated biopsies taken from prostate carcinoma patients. PATIENTS/METHOD: At the time of diagnosis by needle biopsy the TNM stage, serum PSA level, Gleason's grade, apoptotic and mitotic index, as well as Ki67, p53 and bcl2 expression were investigated in 60 prostate carcinoma patients. Anti-androgen therapy supplemented with surgical or chemical castration (with LHRH analogs) was administered. Serum PSA-test and needle biopsy were repeated 13-14 weeks after starting the therapy, simultaneously with determination of the apoptotic and mitotic index, Ki67, p53 and bcl2 expression. RESULTS: Forty-seven patients were alive at the end of the study (average 23.46 +/- 8.6 months) and thirteen patients died (average 25.3 +/- 14.8 months). Initial TNM stage and Gleason's score proved to be of prognostic value. Decrease in mitotic index and increase in apoptotic index during therapy proved to predict favourable long-term response to androgen ablation therapy. Similarly, lower Ki67 and (mutant) p53 expression in the first and also in the second biopsy pointed to a favourable effect of antiandrogen and especially of LHRH analog treatment. Since the ratio between Ki67 percentage and apoptotic index strongly decreased in the survivors upon therapy, changes in Ki67/apoptosis ratio may be recommended as a histologically detectable predictive factor. However, bcl2 expression did not show significant correlation with the outcome of the disease. CONCLUSION: Histological evaluation of parameters such as mitotic and apoptotic index as well as Ki67 and p53 expression in repeated biopsies during treatment may contribute to predicting the value of the actual treatment and may be useful to institute alterations in therapy.