Éva Csatlós

Gene Expression Patterns of Insulin-Like Growth Factor 2 in Human Uterine Fibroid Tissues: A Genetic Study with Clinical Correlations

Background/Aims: We investigated insulin-like growth factor 2 (IGF-2) gene activity in human uterine fibroid tissue. Results of the genetic testing were correlated with clinical data. Methods: We obtained samples from patients treated for uterine fibroid and from patients undergoing hysterectomy due to other indications (control group). The examined group (with fibroid) contained 101 cases, while the control group was similar with 110 patients. Gene expression values were determined using the standard PCR technique. Clinical data were available from the computer database of the department. Results: IGF-2 gene expression was significantly higher in the fibroid group. There was no correlation between increase in gene activity and the number of tumors. History of previous uterine fibroid did not seem to predict IGF-2 gene activity in the current fibroid tumor tissue. IGF-2 gene expression did not correlate with cumulative duration of lactation following prior pregnancies. Conclusion: IGF-2 gene activity is significantly increased in leiomyoma tissue compared to normal myometrium. Familial aggregation of uterine fibroids is not significantly associated with increased IGF-2 gene activity; other genes may have a stronger etiological role. It appears that the genetic factors potentially important in the development of familiar uterine leiomyoma are not related to the IGF-2 gene.

Positive predictive value of prenatal ultrasonography confirmed by post-mortem investigations.

OBJECTIVE To analyse the positive predictive value of ultrasonography based on the results of post-mortem investigations in respect of the most common malformations. STUDY DESIGN We processed the details of 683 cases affecting the nervous, cardiovascular, urinary and skeletal systems, and the abdominal/thoracic walls. RESULTS In four of the investigated groups of malformations, the proportion of sonographic diagnoses completely coinciding with the post mortem results was found to be approximately 70%, but it was found to be much lower (32%) in urinary malformations. The cumulative proportion of coinciding sonographic and post mortem diagnoses was 63%, while completely incorrect ultrasonographic diagnoses amounted to 17%. CONCLUSIONS Sonography is an essential method for the diagnosis of the majority of fetal malformations, but post-mortem examinations yield an indispensable quality control as well as additional information to ultrasound examinations.

Abdominal wall malformations in a 15‐year fetopathological study: accuracy of prenatal ultrasonography diagnosis

The aim of this study was to evaluate the characteristics and diagnostic accuracy of prenatal ultrasonography in the diagnosis of abdominal wall malformations.

Role of Apoptosis in the Development of Uterine Leiomyoma: Analysis of Expression Patterns of Bcl-2 and Bax in Human Leiomyoma Tissue With Clinical Correlations.

To describe gene expression patterns of the apoptotic regulatory genes Bcl and Bax in human uterine leiomyoma tissue. To investigate the relationship between alterations of gene expression patterns and several relevant clinical parameters. We obtained samples from 101 cases undergoing surgery for uterine leiomyoma for gene expression analysis of the Bcl-2 and Bax genes. Gene expression was quantified using RT-PCR technique. In the leiomyoma group, the Bcl-2 gene was significantly overexpressed compared with the control group although there was no such difference in the gene expression of Bax. Gene activity of Bcl-2 positively correlated with the tumor number in individual uterine leiomyoma cases. Although there was no significant correlation between the length of the cumulative lactation period before the development of uterine leiomyoma and Bcl-2 gene expression in the leiomyoma tissue, we observed a trend for a shorter cumulative lactation period to be associated with overexpression of the Bcl-2 gene. Overexpression of the antiapoptotic Bcl-2 gene appeared to be a factor in the development of uterine leiomyoma, whereas gene activity of the proapoptotic Bax gene did not seem to play a role in the process.

The role of the alcohol dehydrogenase-1 (ADH1) gene in the pathomechanism of uterine leiomyoma

OBJECTIVE To describe alterations of gene expression patterns of the alcohol dehydrogenase-1 (ADH1) gene in human leiomyoma tissue. We correlated changes in ADH1 gene activity with several clinical and demographic variables. STUDY DESIGN We compared gene expression patterns of ADH1 in leiomyoma tissue samples obtained from 101 hysterectomy cases to 110 cases of hysterectomy performed for non-oncological indications. Gene expression was determined by standard PCR technique. Clinical and epidemiological data were extracted from the computerized database of the 1st Department of Obstetrics and Gynecology of Semmelweis University and from patient questionnaires. RESULTS Median age in the leiomyoma group was significantly lower than in the control group (47.5 ± 12.1 vs. 54.7 ± 10.2 years). The incidence of uterine leiomyoma was highest (48%) in the 41-50 year age group. In the obstetric history, cumulative gestational age in the leiomyoma group was significantly lower (105.1 ± 8.2 weeks) than in the control group (127.2 ± 9.1 weeks) and cumulative lactation length was also significantly shorter (2.4 ± 1.2 months vs. 5.1 ± 2.2 months). Surgical treatment of the fibroid was myomectomy in 39.6% of the cases and hysterectomy in 60.4%. The ADH1 gene was significantly underexpressed in the leiomyoma group compared to the control group. There was no significant association between ADH1 gene expression and family history. Within the leiomyoma group, there was no significant difference in ADH1 gene expression between subgroups of cases with different number of fibroid tumors found in the hysterectomy sample, but individual tumor number did correlate with the degree of underexpression of the ADH1 gene. There was no significant association between ADH1 gene expression and cumulative history of lactation. CONCLUSIONS Underexpression of the ADH1 gene, which influences the transformation of the extracellular matrix, plays a probable role in the etiology of uterine fibroid. Although significant differences in ADH1 gene activity were not seen, a negative correlation between tumor number and degree of ADH1 underexpression was found. Neither family history nor cumulative lactation length was a significant predictor of uterine leiomyoma.

Successful operative management of an intact second trimester abdominal pregnancy with additional preoperative selective catheter embolization and postoperative methotrexate therapy

Summary Background Abdominal pregnancy is a rare condition that may lead to severe complications. Case Report The authors report the case of a 17-week intact abdominal pregnancy diagnosed in the course of an investigation of lower abdominal pain. Ultrasonography and MR examination revealed an intact abdominal pregnancy. Subsequent angiography was performed to occlude the supportive artery of the pregnancy by selective embolization. The pregnancy was terminated safely by laparotomy a day later. The placenta was left in the abdominal cavity because of the high risk of massive and often uncontrollable bleeding, and treatment with methotrexate was applied postoperatively. Conclusions Preoperative embolization and the postoperative methotrexate therapy facilitate the safe surgical treatment of abdominal pregnancy.

A méh leiomyomája

Uterine fibroids, benign tumors of the human uterus, are the most common indication for hysterectomy. They are clinically apparent in 20-25% of women and cause significant complaints, like prolonged and heavy menstruation, pelvic pressure or pain, sometimes reproductive dysfunction. Though surgery has been the mainstay of fibroid treatment, various minimally invasive procedures have been developed in addition to hysterectomy and abdominal myomectomy. Formation of new leiomyomas after these conservative therapies remains a substantial problem. Also drug-therapy methods are available, but the possible side-effects limit their long-term use. Authors attempt to give an overview of this common gynecological disease, yielding a new insight into the basic biology and genetics of fibroids, with the hope of new and effective methods of therapy in the future.

A leggyakoribb nem onkológiai eredetu nogyógyászati kórképek epigenetikai háttere

Epigenetic effects influence the function of genes regulating the main physiological mechanisms. Some of these environmental factors may reduce or inhibit the function of these genes. The environmental effects on gene function may result in a change of the DNA structure leading to non-heritable phenotype changes. Epigenetic factors play an important etiological role in the development of numerous diseases in obstetrics and gynecology. Uterine fibroids probably have a complex etiological background including epigenetic mechanisms. The multifactorial aetiology of endometriosis suggests key roles for immunological and hormonal factors in the development of the diseases. These mechanisms are influenced by epigenetic factors, which may serve as therapeutic targets in the future. The possible in utero origin of polycystic ovary syndrome determines the main directions of research concerning epigenetic factors in the etiological background, with the hope of eventual prevention and/or treatment in the preconceptional period as well as during pregnancy care.

A leggyakoribb nem onkológiai eredetű nőgyógyászati kórképek epigenetikai háttere@@@Epigenetic background of the most common non-oncologic gynecological diseases

Epigenetic effects influence the function of genes regulating the main physiological mechanisms. Some of these environmental factors may reduce or inhibit the function of these genes. The environmental effects on gene function may result in a change of the DNA structure leading to non-heritable phenotype changes. Epigenetic factors play an important etiological role in the development of numerous diseases in obstetrics and gynecology. Uterine fibroids probably have a complex etiological background including epigenetic mechanisms. The multifactorial aetiology of endometriosis suggests key roles for immunological and hormonal factors in the development of the diseases. These mechanisms are influenced by epigenetic factors, which may serve as therapeutic targets in the future. The possible in utero origin of polycystic ovary syndrome determines the main directions of research concerning epigenetic factors in the etiological background, with the hope of eventual prevention and/or treatment in the preconceptional period as well as during pregnancy care.

Epigenetic background of the most common non-oncologic gynecological diseases

Epigenetic effects influence the function of genes regulating the main physiological mechanisms. Some of these environmental factors may reduce or inhibit the function of these genes. The environmental effects on gene function may result in a change of the DNA structure leading to non-heritable phenotype changes. Epigenetic factors play an important etiological role in the development of numerous diseases in obstetrics and gynecology. Uterine fibroids probably have a complex etiological background including epigenetic mechanisms. The multifactorial aetiology of endometriosis suggests key roles for immunological and hormonal factors in the development of the diseases. These mechanisms are influenced by epigenetic factors, which may serve as therapeutic targets in the future. The possible in utero origin of polycystic ovary syndrome determines the main directions of research concerning epigenetic factors in the etiological background, with the hope of eventual prevention and/or treatment in the preconceptional period as well as during pregnancy care.