A polymorphism of the interleukin-1 receptor antagonist plays a prominent role within the interleukin-1 gene cluster in vulvar carcinogenesis.

Objective: The interleukin-1 (IL-1) family, that is, IL-1alpha and beta and the IL-1 receptor antagonist (IL-1RA), is known to modulate various tumorigenic and tumoricidal effects in humans. Its biological function in squamous cell carcinogenesis of various anatomical sites has been stressed. Although various studies showed a certain association between genes encoding the IL-1 family and human malignancies, no data with respect to vulvar cancer have been published to date.

The size of a microsatellite polymorphism of the haem oxygenase 1 gene is associated with idiopathic recurrent miscarriage.

Endothelial damage, impaired microvascularization and immune maladaptation have been described as aetiological factors in recurrent miscarriages. We investigated the relationship between idiopathic recurrent miscarriage (IRM) and a (GT)(n) repeat microsatellite polymorphism of the gene encoding haem oxygenase 1 (HO-1), known to modulate immune functions such as T-helper (TH) cell function and to be associated with cardiovascular disease. We investigated 162 women with IRM and 129 healthy, post-menopausal controls.

Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.

Objective: We determined whether gene polymorphisms associated with thrombophilia and vascular disease as etiologic factors were involved in the pathogenesis of pregnancy-associated complications.

Methods: We conducted a multicenter case-control study in which we studied 94 women with late unexplained intrauterine fetal death (IUFD) and 94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD. We obtained blood samples from all subjects and analyzed their DNA for 12 common polymorphisms of thrombophilic and vascular genes (factor V Leiden, factor V H1299R, prothrombin G20210A, factor XIII V34L, MTHFR C677T, MTHFR A1298C, beta-fibrinogen-455 G to A, PAI-1 4G/5G, GPIIIa L33P, HFE C282Y, apolipoprotein B R3500Q, and apolipoprotein E2/E3/E4).

Applications of polymorphisms and pharmacogenomics in obstetrics and gynecology.

The number of reports investigating disease susceptibility based on the carriage of low-penetrance, high-frequency polymorphisms has steadily increased over the last years. Evidence based on meta-analyses of individual case-control studies is accumulating, defining specific individual variations in disease susceptibility. For example, genetic variations of the estradiol metabolism have been described as significant contributors to disease susceptibility with variations depending on ethnic background.

Angiopoietin-2 polymorphism in women with idiopathic recurrent miscarriage.

Objective: To investigate the relationship between idiopathic recurrent miscarriage and a polymorphism of the gene encoding for angiopoietin-2 (ANGPT2), an autochthonous modulator of angiogenesis during pregnancy.

Design: Prospective case control study.

Setting: Academic research institution.

[Gynecologic applications of genetic variability].

The characterisation of mutations and polymorphisms has been improved within the last decade. In this respect, the possibilities to define genetic susceptibility to a number of diseases have been established in various populations. As to the field of obstetrics and gynecology, the analysis of polymorphisms may be useful to characterise populations of women carrying a significantly elevated risk of developing specific obstetric complications, e.

An interleukin-6 gene promoter polymorphism influences the biological phenotype of ovarian cancer.

Interleukin (IL)-6 is known to be involved in the pathogenesis of ovarian cancer. We investigated a common G/C polymorphism at position -174 of the IL-6 gene (IL6) promoter in 121 patients with ovarian cancer using pyrosequencing. Presence of at least one mutant allele was associated with early tumor stage as well as an expanded length of disease-free (DFS) and overall survival with a dose-dependent effect regarding the carriage of 0, 1, and 2 alleles.

Influence on fetal blood pH when adding amniotic fluid: an in vitro model.

Objective: To assess the effect of contamination with amniotic fluid in different quantities on fetal capillary blood pH.

Design: In vitro model.

Setting: Department of Obstetrics, St Pölten Hospital.

Elevated serum concentrations of androgens in women with pregnancy-induced hypertension.

Alterations of steroid hormone profiles have been suggested to be involved in the pathophysiology of pregnancy-induced hypertension (PIH). The aim of our study was first to investigate serum concentrations of testosterone, dihydrotestosterone, androstenedione and dehydroepiandrostenedione sulfate in women with PIH and normotensive pregnant women and secondly to evaluate an association between elevated serum concentrations of androgens and the development of severe disease. Serum concentrations of androgens were measured in 40 patients with PIH and 40 normotensive pregnant women, matched for gestational age, determined by enzyme linked immunosorbent assay.

Combined thrombophilic polymorphisms in women with idiopathic recurrent miscarriage.

Objective: To identify associations or interrelations between carriage of the methylenetetrahydrofolate reductase (MTHFR) C677T, the MTHFR A1298C, the factor V Leiden G1691A, the factor II prothrombin G20210A, the human platelet antigen (HPA) 1 C12548T, and the apolipoprotein (APO) B R3500Q polymorphisms and idiopathic recurrent miscarriage (IRM).

Design: Prospective case control study.

Setting: Academic research institution.

Axillary lymph node dissection in pT1 breast cancer: a retrospective analysis of 315 patients and review of the literature.

Axillary lymph node status and pathologic features of the primary tumor are used to predict the prognosis and select appropriate adjuvant therapy for individual patients with breast cancer. The goal of our study is to identify a group of breast cancer patients who would not benefit from axillary dissection. We researched medical literature and conducted retrospective analyses of 315 consecutive postmenopausal women with breast tumors under 2.

Polymorphism of the interleukin-1beta gene and endometriosis.

Objective: Experimental data indicate that interleukin (IL)-1 plays a role in the pathogenesis of endometriosis. We determined the genotype and the allele frequencies of the IL1B exon 5 polymorphism and the corresponding IL-1beta serum levels in women with endometriosis.

Methods: We genotyped 92 women with surgically and histologically confirmed endometriosis and 69 controls without history of endometriosis.

Serum levels of heat shock protein 70 in patients with preeclampsia: a pilot-study.

Objective: To evaluate the serum levels of heat shock protein (Hsp) 70 in patients with severe preeclampsia (PE) in comparison to controls. The pathophysiology of PE can be explained, in part, by alterations of endothelial function caused by endothelial cell activation and injury. HSP 70 is essential for cellular recovery, survival and maintenance of homeostasis.

A polymorphism of the interleukin-6 gene promoter and idiopathic recurrent miscarriage.

Background: Cytokines have been described to play a major role in the pathogenesis of idiopathic recurrent miscarriage (IRM). We investigated the association between IRM and a polymorphism of the interleukin-6 (IL-6) gene and IL-6 serum levels.

Methods: In a prospective case-control study, we studied 161 women with IRM and 124 healthy controls.

Analysis of an interleukin-6 gene promoter polymorphism in women with endometriosis by pyrosequencing.

Interleukin (IL)-6 has been implicated in the etiology of endometriosis. A single nucleotide polymorphism (SNP) at position -174 in the IL-6 gene promoter appears to influence IL-6 transcription rates in vitro and basal IL-6 levels in vivo. We determined the genotype and the allele frequencies of the -174 IL-6 promoter polymorphism and the corresponding IL-6 serum levels in women with endometriosis.

A polymorphism of the Nos3 gene and age at natural menopause.

To investigate the possible influence of a polymorphism of the Nos3 gene on menarche and onset of menopause in humans. Cohort study.Academic research institution.

Interleukin-1 receptor antagonist polymorphism in women with peritoneal adhesions.

Interleukin (IL)-1 has been shown to induce peritoneal adhesions. We determined the IL-1 receptor antagonist (IL-1RN) genotype with respect to the two most common variant alleles IL-1RN*2 and IL-1RN*3 in Caucasian women with peritoneal adhesions. One hundred seven women with surgically verified peritoneal adhesions and 79 controls without peritoneal adhesions served as controls.

Polymorphisms of the interleukin-1 gene cluster and ovarian cancer.

Objective: Interleukin-1 (IL-1) is known to be critically involved in ovarian carcinogenesis. We investigated a panel of polymorphisms of the IL-1 and the IL-1 receptor antagonist (IL-1 RA) genes in patients with ovarian cancer.

Methods: One hundred thirty-four patients with surgically staged ovarian cancer, 27 patients with borderline ovarian cancer, and 134 healthy controls were genotyped for three polymorphisms of the IL-1 gene (-889 C/T polymorphism of the IL-1alpha gene [IL1A], -511 C/T polymorphism of the IL-1beta promoter [IL1B promoter], a polymorphism of IL-1beta exon 5 [IL1B exon 5]), and an 86-base pair repeat in intron 2 of the IL-1 RA gene [IL1RN]) using polymerase chain reaction and pyrosequencing.

Drug therapy of urinary urge incontinence: a systematic review.

Objective: To review the efficacy of drug therapy for urinary urge incontinence by examining the published literature.

Methods Of Study Selection: In October 1999, we searched the medical databases MEDLINE, EMBASE, and Cochrane Controlled Trials Register to identify prospective randomized, double-blind, placebo-controlled clinical trials in the English literature evaluating drug therapy (except hormonal therapy) of urinary urge incontinence. Trials were categorized by type of drug and outcome variables.

Concentrations of estrogens in patients with preeclampsia.

The role of estrogens in the pathophysiology of preeclampsia remains to be determined. The aim of our study was to compare serum concentrations of 17 beta-estradiol and estriol in women with preeclampsia to normotensive pregnant controls. Serum concentrations of estrogens were measured in women with mild (n = 24) and severe (n = 24) preeclampsia as well as is normotensive pregnant controls (n = 24).

Tumor necrosis factor-alpha promotor polymorphisms and endometriosis.

To explore whether having the mutant tumor necrosis factor (TNF)2 (G-308*A) and TNFA-A (G-238*A) alleles in the TNF-alpha gene promotor region is higher in women with endometriosis, we determined the respective genotype and allele frequencies in a retrospective case-control study. Polymerase chain reaction was performed to identify the G-308A and G-238A promotor polymorphisms in 92 women with surgically and histologically confirmed endometriosis. A series of 69 healthy women without a history of endometriosis served as clinical controls.

Catechol-O-methyltransferase polymorphism and endometriosis.

Purpose: Catechol-O-methyltransferase (COMT) inactivates the estradiol metabolites, 2-hydroxy and 4-hydroxy catechols, which have been implicated in the pathogenesis of endometriosis. A COMT valine to methionine polymorphism (G-to-A) in exon 4 of the COMT gene is polymorphic in the human population, with 25% of Caucasians being homozygous for the low-activity allele (COMT-L) of the enzyme. In a case-control study we investigated whether this COMT polymorphism is associated with endometriosis.

Polymorphisms of the endothelial nitric oxide synthase gene in ovarian cancer.

Objective: The free radical nitric oxide is known to be critically involved in ovarian carcinogenesis by inducing apoptosis and by mediating various cytostatic and cytotoxic effects, but also by promoting growth, invasion, and metastasis.

Methods: We investigated two polymorphisms (exon 7 Glu298Asp and a 27-bp repeat in intron 4) of the gene encoding endothelial nitric oxide synthase (Nos3) in 130 patients with ovarian cancer, 26 patients with borderline ovarian cancer, and 133 healthy age-matched Caucasian women using PCR and pyrosequencing, respectively.

Results: Genotypes and allelic frequencies did not differ between patients with ovarian cancer and controls.

An endothelial nitric oxide synthase gene polymorphism is associated with preeclampsia.

Objective: We sought to test the hypothesis that a polymorphism of the endothelial nitric oxide synthase gene (NOS3) is associated with preeclampsia.

Methods: We collected and performed polymerase chain reaction (PCR) on genomic DNA from pregnant patients with and without preeclampsia. Patient history and clinical course were evaluated.