Alternation of ten-eleven translocation 1, 2, and 3 expression in eutopic endometrium of women with endometriosis-associated infertility.

Little is known about the differences in ten-eleven translocation 1, 2, and 3 (TET1-3) expression in the endometrial phases in eutopic endometrium from infertile women with endometriosis (IWE) and fertile women without endometriosis (FW). Using RT-qPCR and western blot analysis, we assessed the TET expression in the mid-follicular and mid-luteal phases in eutopic endometrium from IWE (n = 38) and FW (n = 18). Both IWE and FW underwent laparoscopic and histological examinations for endometriosis. In the mid-luteal eutopic endometrium in IWE, compared to that of FW, we found significantly reduced levels of TET1 transcripts and proteins (p = .001 and p = .003, respectively) at the severity stage of I/II (p = .029 and p = .003, respectively) and transcripts only at the severity stage of III/IV (p = .003). In the mid-follicular eutopic endometrium of IWE, compared to that of FW, there was a statistically significant reduction in TET2 transcript levels at the severity stage of III/IV (p = .037). Compared to the mid-follicular endometrium, we found a statistically significant increase in TET3 transcript levels during the mid-luteal phase in the eutopic endometrium of all IWE (p = .034) and in the severity stage of III/IV (p = .025). We observed a change in the expression levels of TET1-3 in the eutopic endometrium of IWE.

The assessment of GWAS - identified polymorphisms associated with infertility risk in Polish women with endometriosis.

OBJECTIVES: Genome-wide association studies in patients with endometriosis revealed ten significant single nucleo-tide polymorphisms (SNPs) in the Caucasian population, which include rs12700667 near NFE2L3, rs12037376 in WNT4, rs7521902 near WNT4, rs13394619 in GREB1, rs10859871 near VEZT, rs1537377 near CDKN2B-AS1, rs4141819 near ETAA1, rs7739264 near ID4, rs1519761 near RND3 and rs6542095 near IL1A. MATERIAL AND METHODS: We replicated ten polymorphisms among infertile women with endometriosis (n = 315) and healthy fertile women (n = 406) in the Polish Caucasian population. Genotyping was conducted either by high-resolution melting curve analysis or by a pre-designed TaqMan probe. RESULTS: For all infertile women with endometriosis, the p values of the Cochran-Armitage trend test for the rs12700667 SNP was ptrend = 0.038 and the odds ratio (OR) for the risk allele frequency (RAF) of rs12700667 was 1.304 (95% CI = 1.009-1.685; p = 0.042). In patients with endometriosis with severity stages III/IV, ptrend for rs12700667 SNP was 0.036 and OR for the RAF was 1.394 (95% CI = 1.010-1.923; p = 0.043). In infertile women with endometriosis with severity stages III/IV for rs4141819 SNP, we observed ptrend = 0.026 and for RAF the OR = 1.350 (95% CI = 1.032-1.766; p = 0.029). CONCLUSIONS: Our results demonstrate association of RAF of rs12700667 and rs4141819 SNPs with infertility in Polish women with advanced endometriosis.

Perinatal and cardiovascular outcomes in a pregnant patient with Marfan syndrome.

A 25-year-old primigravida with Marfan syndrome (MFS) was admitted at 36 weeks of gestation (WOG).

HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR expression in infertile women with endometriosis.

OBJECTIVES: The development of endometriosis is associated with changes in the expression of genes encoding the 3ß-hydroxysteroid dehydrogenase type II (HSD3B2) and 17ß-hydroxysteroid dehydrogenase type II (HSD17B2), estrogen receptors 1 (ESR1) and 2 (ESR2) and the androgen receptor (AR). However, little is known about the expression of HSD3B2, HSD17B1, HSD17B2, ESR1 ESR2 and AR during the endometrial phases in eutopic endometrium from infertile women with endometriosis. MATERIAL AND METHODS: Using RT-qPCR analysis, we assessed the expression of the studied genes in the follicular and luteal phases in eutopic endometrium from fertile women (n = 17) and infertile women (n = 35) with endometriosis. RESULTS: In the mid-follicular eutopic endometrium, we observed a significant increase in HSD3B2 transcript levels in all infertile women with endometriosis (p = 0.003), in infertile women with stage I/II endometriosis (p = 0.008) and in infertile women with stage III/IV endometriosis (p = 0.009) compared to all fertile women. There was a significant increase in ESR1 tran-scripts in all infertile women with endometriosis (p = 0.008) and in infertile women with stage I/II endometriosis (p = 0.019) and in infertile women with stage III/IV endometriosis (p = 0.023) compared to all fertile women. In the mid-luteal eutopic endometrium, we did not observe significant differences in HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR transcripts between infertile women with endometriosis and fertile women. CONCLUSIONS: Observed significant increase in HSD3B2 and ESR1 transcripts in follicular eutopic endometrium from infer-tile women with endometriosis may be related to abnormal biological effect of E2 in endometrium, further affecting the development of human embryos.

Involvement of 17ß-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis.

PURPOSE: Endometriosis is considered to be an estrogen-related chronic inflammatory disease. The 17ß-hydroxysteroid dehydrogenase 1 (HSD17B1) converts estrone to 17ß estradiol. The role of HSD17B1 937 A>G (rs605059) single nucleotide polymorphism (SNP) in development of endometriosis is still disputable. This study evaluated the association of the HSD17B1 937 A>G (rs605059) SNP with infertile women affected by endometriosis from Polish Caucasian population. METHODS: The genotyping of cases (n = 290) and fertile women (n = 410) was conducted by high-resolution melting curve analysis. RESULTS: Statistical analysis demonstrated that the HSD17B1 937 A>G SNP is associated with endometriosis in stages I and II. The p trend and p allelic values calculated for the HSD17B1 937 A>G polymorphism were statistically significant and were equal to 0.001 and 0.0009, respectively. There was a significant association for the dominant model: (AG + GG vs AA) OR = 1.973 (95% CI = 1.178-3.304), p = 0.009, and for the recessive model: (GG vs AG + AA) OR = 1.806 (95% CI = 1.178-2.770), p = 0.006. However, we did not find statistical association of HSD17B1 937 A>G polymorphism with all infertile women with endometriosis or infertile women with endometriosis in stages III and IV. CONCLUSION: Our genetic study demonstrated HSD17B1 937 G variant as a risk factor for infertility in women with stage I and II endometriosis in Polish Caucasian patients.

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

Cranioectodermal dysplasia (CED) is a disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. Most cases reported to date are sporadic, but a few familial cases support an autosomal-recessive inheritance pattern. Aiming at the elucidation of the genetic basis of CED, we collected 13 patients with CED symptoms from 12 independent families. In one family with consanguineous parents two siblings were affected, permitting linkage analysis and homozygosity mapping. This revealed a single region of homozygosity with a significant LOD score (3.57) on chromosome 3q21-3q24. By sequencing candidate genes from this interval we found a homozygous missense mutation in the IFT122 (WDR10) gene that cosegregated with the disease. Examination of IFT122 in our patient cohort revealed one additional homozygous missense change in the patient from a second consanguineous family. In addition, we found compound heterozygosity for a donor splice-site change and a missense change in one sporadic patient. All mutations were absent in 340 control chromosomes. Because IFT122 plays an important role in the assembly and maintenance of eukaryotic cilia, we investigated patient fibroblasts and found significantly reduced frequency and length of primary cilia as compared to controls. Furthermore, we transiently knocked down ift122 in zebrafish embryos and observed the typical phenotype found in other models of ciliopathies. Because not all of our patients harbored mutations in IFT122, CED seems to be genetically heterogeneous. Still, by identifying CED as a ciliary disorder, our study suggests that the causative mutations in the unresolved cases most likely affect primary cilia function too.

Polymorphic variants of CYP17 and CYP19A and risk of infertility in endometriosis.

OBJECTIVE: Endometriosis is recognized as an estrogen-dependent disease. There are conflicting data demonstrating single nuclear polymorphisms (SNPs) of CYP17 and CYP19 steroidogenic genes as related to endometriosis risk. We assessed the CYP17 5'-untranslated region -34 A/G (rs743572) and CYP19 Ex10 + C1558T (rs10046) SNPs in stage I-II endometriosis. DESIGN: Case-control study. SETTING: Division of reproduction at a university department in Poland. POPULATION: A total of 115 women with diagnosed stage I-II endometriosis according to the revised American Society for Reproductive Medicine (rASRM) classification and 197 fertile women as controls. METHODS: The SNPs CYP17 -34 A/G and CYP19 Ex10 + C1558T were identified by high-resolution melting curve analysis. MAIN OUTCOME MEASURES: Genotype prevalence and odds ratio for recessive and dominant genetic model for CYP17 and CYP19 SNPs. RESULTS: We observed a significantly increased CYP17 GG and GA genotype frequency in women diagnosed with rASRM stage I-II endometriosis compared with fertile women (OR = 2.4; 95% CI 1.4-4.2, p = 0.002). We also found a significantly increased CYP17 G allele frequency in cases compared with controls (OR = 1.6; 95% CI 1.2-2.2, p = 0.004). There were no significant differences in the distribution of the CYP17 GG genotype and CYP19 Ex10 + C1558T polymorphism between women diagnosed with rASRM stage I-II endometriosis and controls. CONCLUSION: The CYP17 -34 G variant, previously associated with increased 17ß-estradiol production, displayed a contribution to stage I-II endometriosis in women from a Polish population. Increased 17ß-estradiol concentration in carriers of the CYP17 -34 G variant might contribute to endometriosis and associated pathological processes.

The FCRL3 -169T>C polymorphism and the risk of endometriosis-related infertility in a Polish population.

OBJECTIVE: Recently, the FCRL3 -169T>C (rs7528684) single-nucleotide polymorphism (SNP) has been demonstrated to be a risk factor of endometriosis related infertility. We studied whether the FCRL -169T>C SNP can be associated with endometriosis-related infertility in a sample of the Polish population METHODS: Using PCR-RFLP analysis we genotyped 141 infertile women with endometriosis and 519 fertile women. FCRL3 transcript levels were determined by reverse transcription and real-time quantitative PCR analysis in CD19(+) B cells from women with endometriosis-associated infertility and fertile women RESULTS: We found a significantly increased frequency of the FCRL3 C/C genotype in women with endometriosis-associated infertility than controls [OR = 1.681 (95 % CI = 1.120-2.522, p = 0.0116, p corr = 0.0348)]. There was also a statistically increased frequency of the C/C and C/T genotypes in patients compared with controls [OR = 2.009 (95 % CI = 1.214-3.324, p = 0.0059, p corr = 0.0177)]. The p value of the χ (2) test for the trend observed for the FCRL3 -169T>C polymorphism was also statistically significant (p trend = 0.0012, p corr = 0.0036). We also found significantly increased FCRL3 transcript levels in carriers of the FCRL3 -169 CC vs TT and CT vs TT genotype both in women with endometriosis-related infertility (p = 0.012; p = 0.015) and fertile women (p = 0.017; p = 0.032) CONCLUSIONS: FCRL3 -169T>C polymorphism alters the expression of FCRL3 and can be a risk factor of endometriosis-related infertility.

Expression of HOXA11 in the mid-luteal endometrium from women with endometriosis-associated infertility.

BACKGROUND: A decrease in HOXA11 expression in eutopic mid-secretory endometrium has been found in women with endometriosis-associated infertility. METHODS: Using Real-time quantitative PCR (RQ-PCR) and western blotting analysis we studied the HOXA11 transcript and protein levels in mid-luteal eutopic endometrium from eighteen infertile women with minimal endometriosis, sixteen healthy fertile women and sixteen infertile women with fallopian tubal occlusion from the Polish population. We also evaluated transcript levels of DNA methyltransferases DNMT1, DNMT3A and DNMT3B in these groups of women. RESULTS: There were significantly lower levels of HOXA11 transcripts (p = 0.003, p = 0.041) and protein (p = 0.004, p = 0.001) in women with endometriosis as compared to fertile women and infertile women with tubal occlusion. Moreover, we found significantly higher methylation levels of the CpG region in the first exon of HOXA11 in infertile women with endometriosis compared with fertile women (p < 0.001) and infertile women with tubal occlusion (p < 0.001). We also observed significantly increased levels of DNMT3A transcript in women with endometriosis than fertile women (p = 0.044) and infertile women with tubal occlusion (p = 0.047). However, we did not observe significant differences in DNMT1 and DNMT3B transcript levels between these investigated groups of women. CONCLUSIONS: We confirmed that reduced HOXA11 expression may contribute to endometriosis-associated infertility. Moreover, we found that DNA hypermethylation can be one of the possible molecular mechanisms causing a decrease in HOXA11 expression in the eutopic mid-secretory endometrium in infertile women with endometriosis.

[The management of ovarian tumors in pregnancy and perinatal outcome]. / Postepowanie z guzami jajnika w ciazy a wyniki poloznicze.

AIM: The pregnancy course in women with gestational ovarian mass and conservative or operative management. MATERIAL AND METHODS: In retrospective analysis we analyzed 83 pregnant women with ovarian mass diagnosed between 2002-2009. We considered the following factors: gestational age when diagnosed, ultrasound picture, clinical symptoms, level of CA 125, treatment used, pathologic results and pregnancy outcome. RESULTS: In this group of patients 29 (35%) underwent surgery and 54 (65%) were managed conservatively In 83% of operated women ovarian mass was diagnosed before 11 gestational week. Only 27.5% of patients had pain. CA 125 level was elevated in 48.3% women. In all operated patients laparotomy was performed. The most common pathologic finding was mature teratoma (37.9%) and serous cyst (34.5%). In only one patient we diagnosed borderline serous carcinoma in both ovaries. Among operated patients, 86% delivered at term healthy newborns. In conservatively managed group level of CA 125 remain within a normal range. Patients were symptoms free and pregnancy course was uneventful. In 85% non operated women within 6 postpartum weeks ovarian masses disappeared. CONCLUSION: According to our analysis adequate ultrasound image interpretation of ovarian' tumors in pregnancy is of the highest importance in further medical management. Conservative treatment with systematic obstetric care may help to reduce the number of surgical intervention. Surgical treatment of ovarian tumors in pregnancy increases the risk of premature deliveries.

[Risk assessment of chronic HPV HR infection in babies who contacted the virus in the perinatal period]. / Ocena ryzyka rozwoju przewleklego zakazenia typami wysokoonkogennymi wirusa brodawczaka ludzkiego (HPV HR) u noworodków zakazonych w okresie perinatalnym.

INTRODUCTION: One of the potential ways of HPV transmission to fetuses and newborns is a direct perinatal infection, manifested as juvenile laryngeal papillomatosis (JLP). This applies to children after traditional birth, born to mothers in whom the DNA sequences of the HPV HR in the paraepidermal epithelium of cervix were found during pregnancy and delivery OBJECTIVES: Risk assessment of the development of chronic HPV HR infection in babies who had contact with the virus in the perinatal period. MATERIALS AND METHODS: During the pre- and perinatal period, research was carried out among 185 pregnant women and a group of 105 newborns (5 pairs of twins), hospitalized in the Delivery Room of the Gynecology and Obstetrics Clinic of the Poznan Medical University between 2005-2007. Cellular material from the uterine cervical canal using a brush-type Cervex Brush was collected from each woman participating in the study and oral swabs using swab sticks were taken from the newborns. The second phase of testing was conducted following the postpartum, 3 to 6 months after the delivery Uterine cervix swabs were re-collected from 28 HPV HR positive women and swab from the mouth and nasopharynx were taken from their children (29 samples--1 pair of twins). The study was conducted with the use of PCR, trade named AMPLICOR Human Papilloma Virus (HPV) Test by Roche. RESULTS: DNA HPV HR was found in 55 cases of the cellular material derived from 185 swabs taken from the cervical canal, representing 29.7% of researched women. The chronic HPV HR viral infection was detected in 25 cases out of the 28 HPV HR positive women, representing 89.2% of the study group. Of the 105 infants from whom oral swabs were taken in the perinatal period, presence of DNA HPV HR was found in 2 infants (2%) after traditional birth. Whereas the repeated test, within 3-6 months after delivery revealed the presence of DNA HPV HR viruses in swab oral in 1 infant, who had been DNA HPV HR positive. CONCLUSIONS: Perinatal transmission of Human Papillomavirus of the high-risk oncogenic type is rare and concerns below 2% of babies of HPV HR positive mothers. Prolonged infection by the Human Papillomavirus is an extremely rare complication of pregnancy and delivery and concerns below 1% of children of HPV HR positive mothers. Perinatal transmission of the oncogenic type infection of the virus in humans is primarily of the ascending type or occurs during the perinatal period if the delivery was a traditional one.

[HOXA11 gene expression in women with and without impaired infertility]. / Ekspresja genu HOXA11 w endometrium kobiet bez i z zaburzeniami plodnosci.

INTRODUCTION: HOXA genes are receptivity markers and their altered expression can help identify women with implantation defect. OBJECTIVES: The purpose of this study was to examine the expression pattern of HOXA11 and expression and localization of its protein product in the endometrium of women with endometriosis, idiopathic infertility and normal fertile patients during different phases of the menstrual cycle. MATERIAL AND METHODS: We evaluated HOXA11 mRNA level in the endometrium from endometriosis (n=36), idiopathic infertility (n=48) and fertile patients (n=30) during a menstrual cycle. The amounts of mRNA were determined by real-time quantitative PCR. Using the immunohistochemical techniques we compared the localization of HOXA11 protein in the proliferative, early secretory and midsecretory endometrium in all of the studied groups. Endometrial biopsy was performed by pipelle or during hysteroscopy. RESULTS: We observed statistically significantly elevated HOXA11 transcripts levels in the midsecretory phase in both, the idiopathic infertility and the fertile control groups (p<0.05). Patients with endometriosis had low HOXA11 transcript level in the implantation window. Normal fertile patients showed statistically significantly decreased (p=0.003) HOXA11 mRNA level in the proliferative phase and statistically significantly increased level (p=0.018) in midsecretory phase, comparing to endometriosis patients. HOXA11 protein were localized in the nuclei of the endometrial stromal cells whereas the cytoplasm of these cells did not stain. CONCLUSION: Our results suggest that altered HOXA11 gene expression in the endometrium during a menstrual cycle may be a common phenomenon among patients with endometriosis and may cause infertility in this group of patients. Further research should explain the mechanism of altered expression of HOXA11 gene.

Assessment of selected parameters of placental microstructure in patients with intrahepatic cholestasis of pregnancy.

OBJECTIVES: Intrahepatic cholestasis of pregnancy (ICP) is the most common liver disorder during pregnancy. Cholestasisis associated with increased risk of fetal complications: prematurity, perinatal hypoxia and meconium stained amnioticfluid, and sudden intrauterine fetal death. The exact mechanisms associated with cholestasis fetal sequelae are not fullyunderstood. The aim of the study was the histopathological evaluation of placentas from patients with cholestasis andhealthy pregnant women to establish whether cholestasis is accompanied by changes in placental microstructure. MATERIAL AND METHODS: The effect of cholestasis on placental microstructure was investigated using placental tissue frompatients with cholestatsis treated with ursodeoxycholic acid (UDCA) and from uncomplicated pregnancies. Five placentalhistopathological features were analyzed: number of syncytial knots, number of capillaries per villous, structure of stroma,presence of Hofbauer cells, and villitis of unknown etiology. RESULTS: There were no statistically significant differences in any of the studied parameters between cholestasis-affectedand healthy control groups. CONCLUSIONS: There are no diffrences in placental microstructure in cholestasis patients treated with UDCA and in patientswith uncomplicated pregnancy.

Follow-up of children with antenatally diagnosed idiopathic polyhydramnios.

OBJECTIVES: The aim of our work was to assess the development of children with antenatally diagnosed idiopathic poly- hydramnios, over 12 months from the end of pregnancy. MATERIAL AND METHODS: The study included 91 healthy pregnant patients with idiopathic polyhydramnios. Diagnostic tests results and perinatal medical history were obtained retrospectively. Parents of children were contacted by phone and by mail. The answers were obtained from 64 (70%) parents. For statistical analysis SigmaStat3.5 software was used. RESULTS: Ninety six percent of parents declared that in their opinion the development of children was normal. Abnormali- ties were found in 44% of the children. Thirty percent of neonates demonstrated mild abnormalities which may be due to organic or functional neuromuscular disorders: abnormal muscle tone, speech apparatus and development disorders, swallowing and breathing problems (manifested as vomiting, excessive regurgitation, idiopathic apnoeas). Isolated small malformations were diagnosed in 12 (19%) children. Two children (3%) with SGA were diagnosed with genetic syndromes. More than one of the abnormalities described above were diagnosed in 14% of children. Gestational age at the time of polyhydramnios diagnosis and its severity were not prognostic factors for abnormalities. Seventy percent of newborns were male. CONCLUSIONS: Despite the subjectively positive assessment of the development of children by the majority of parents, groups of common disorders requiring long-term follow-up have been identified. Functional disorders of the gastrointestinal tract, CNS and the group of neuromuscular disorders may be responsible for idiopathic polyhydramnios. SGA with co-existing idiopathic polyhydramnios is associated with the risk of genetic diseases. The more frequent incidence of idiopathic poly- hydramnios in male fetuses requires further research.

Use of ex utero intrapartum treatment procedure in fetal neck and high airway anomalies - report of four clinical cases.

PURPOSE: To present antenatal management and use of ex utero intrapartum treatment (EXIT) in different fetal neck and high airway anomalies. MATERIAL AND METHODS: We have presented four different cases of fetal neck or airway pathology which were indications for EXIT, at our department. RESULTS: In three cases of fetal neck tumors, the primary precise antenatal diagnoses of tumors were confirmed after birth. The airways of all three fetuses were properly secured during EXIT by laryngologist. All these newborns survived. In the fourth case, a primary, antenatal diagnosis of congenital high airway obstruction syndrome due to severe trachea obstruction was not confirmed after birth. Finally, due to complete trachea dysgenesis, neither tracheoscopy nor tracheostomy was done during EXIT and the baby died. CONCLUSION: Despite a failure of intrapartum treatment in the fourth case, we strongly recommend this procedure for deliveries of fetuses with a suspicion of airway obstruction.

[Risk factors and frequency of occurrence of HPV DNA of high oncogenic types in paraepidermal epithelium cells of the uterine cervix, in the trophoblast, and in the peripheral blood of pregnant patients]. / Ocena czynników ryzyka i czestosci wystepowania DNA HPV typów onkogennych w komórkach nablonka paraepidermalnego szyjki macicy, w trofoblascie oraz we krwi zylnej kobiet ciezarnych.

INTRODUCTION: During pregnancy viruses of high oncogenic potential--types 16, 18, 31, 33, 35, which had so far remained in the state of chronic infection, undergo reactivation. Among the potential ways of HPV transmission to foetus, the direct perinatal infection is mentioned. In the antenatal period of pregnancy, a descending way of infection through blood is analyzed. OBJECTIVES: The purpose of this study is to evaluate the risk factors and frequency of occurrence of HPV DNA of high oncogenic types in paraepidermal epithelium cells of the uterine cervix, in the trophoblast, and in the peripheral blood of pregnant patients. MATERIAL AND METHODS: The research included 185 pregnant women hospitalized in the Delivery Room, of the Gynecological and Obstetric Clinic of the Poznan Medical University, in years 2005-2006. All patients who took part in the research had been interviewed prior to delivery with the help of a pre-designed questionnaire. Samples of cellular material from the cervix were collected before the delivery (185 specimens). 4-5 ml of peripheral blood (103 specimens) were collected as well. The collection of the cellular material was performed with the use of Cervex-Brush. Samples of tissue from placenta (138 specimens, including 5 pairs of twins) were collected after delivery. RESULTS: The research concludes, that incidental or chronic infection evoked by HPV HR presence in paraepidermal epithelium cells of the uterine cervix has been observed in nearly 30% of pregnant women. The presence of HPV HR DNA in the placenta cells of the HPV HR positive mothers applies to less than 6,5% of the researched women. Identification of the genetic material of Papillomavirus in peripheral blood of pregnant women indicates that this occurrence is incidental. The analysis of the risk factor of the development of HPV infection has exerted that the positive result of molecular tests on the presence of HPV HR DNA concerns the population of young women from 18 to 30 years of age. CONCLUSIONS: Incidental or persistent infection with highly oncogenic types of HPV present in cervix paraepidermal epithelium cells is observed in approximately 30% of pregnant women. The presence of DNA HPV HR in trophoblast cells of HPV HR positive mothers is diagnosed rarely, in less than 7% of pregnant women. Human Papilloma Virus is present in the peripheral blood of pregnant women sporadically. None of the currently known risk factors of HPV infection may be correlated with DNA HPV HR presence in pregnant women.

[The correlation of a positive DNA HPV HR test and genotyping human papilloma viruses with the presence of CIN, in women with cytologic evidence of ASC-US and LSIL]. / Korelacja pozytywnego wyniku testu na DNA HPV HR oraz genotypowania wirusów brodawczaka ludzkiego z obecnoscia CIN u kobiet z rozpoznaniem cytologicznym ASC-US i LSIL.

INTRODUCTION: Diagnostic algorithm for women with ASC-US presumes the possibility of performing molecular test for DNA HPV HR, colposcopy or repeated cytology. The latest suggestions of diagnostic algorithm modification in case of cytologic interpretation of LSIL, are based on trial of performing molecular DNA HPV HR test and/or genotyping human papilloma viruses with the special indication for type 16. These suggestions presume performing colposcopy in women with DNA HPV HR or DNA HPV 16 (+). MATERIAL AND METHOD: Triage study included 67 women with ASC-US and 48 women with LSIL. All 115 women were examined with the use of molecular test Amplicor HPV Roche Diagnostics, which identifies the presence of any out of 13 oncogenic DNA HPV types. 14 women with LSIL DNA HPV HR (+) interpretation, were additionally tested for identification of HPV genotypes presence. In all women with cytologic evidence of ASC-US and LSIL, a colposcopic examination was further performed. RESULTS: Among 67 examined women with ASC-US interpretation, 31 had a (+) test for the presence of any out of 13 HPV HR, while in 12 patients, the result of pathomorphological examination confirmed at least the presence of CIN 1. In none of 36 patients with ASC-US, DNA HPV HR (-) interpretation, the presence of CIN was confirmed. For 29 women with LSIL, (+) test result for any out of 13 HPV HR was obtained. In 117 patients OUT of this group, at least the presence of CIN 1 was recognized. Following 19 women with LSIL had a negative test result for DNA HPV HR. In none of the patients with DNA HPV HR (-), the presence of CIN was confirmed. DNA HPV 16 was recognized in 5/9 patients with LSIL, without CIN. In 5 patients with LSIL, who underwent HPV genotyping, and were diagnosed for CIN, 4/5 were DNA HPV 76 (+). The most common HPV types in women with LSIL and the presence of CIN include; HPV 16 and HPV 37. CONCLUSIONS: 1. Negative DNA HPV HR result, identifies precisely women with ASC-US and LSIL, without CIN. 2. Genotyping exclusively DNA HPV 16 in women with LSIL, in order to detect CIN is characterized by lower sensitivity and specificity in comparison with universal test for 13 oncogenic HPV types.

[Risk factors analysis of endometrial cysts recurrence after their surgical removal]. / Analiza czynników ryzyka nawrotu torbieli endometrialnych po ich operacyjnym usuniedcu.

UNLABELLED: One of the problems associated with endometriosis is its high recurrence rate. The aim of the study was to assess the risk factors which might contribute to the recurrence of endometrial cysts after their surgical removal. MATERIAL AND METHOD: The study included 49 patients admitted to Division of Reproduction, between January 2000 and June 2004, due to endometrial cysts. Patients with more than a two-year follow-up after the initial surgery were retrospectively analyzed. The surgery constituted either an enucleation or an excision of the cyst after prior mobilization of the ovary from surrounding adhesions via laparoscopy or laparotomy. Ten independent factors which might have an impact on the endometriosis recurrence have been the subject of our investigation and analysis. RESULTS: The overall rate of recurrence was 18% (9/49). The age of the patient (28.8 +/- 5.4 years for recurrent endometriosis vs. 33.1 +/- 5.2 years without endometriosis recurrence OR 0.789 95% CI = 0.609-1.020, p < 0.05) proved to be an essential factor responsible for a more frequent endometriosis recurrence. Contrarily, hand removal of cysts via laparoscopy (66.7% vs. 90% of laparoscopies in patients with and without recurrence, respectively, OR = 0.018, 95% CI = 0.0003-0.982, p = 0.049) and pregnancy after surgical treatment (47.5% in patients without recurrence vs. 22% in patients with recurrence, OR = 0.046, 95% CI = 0.0144-0.152, p = 0.031) was associated with significantly less frequent recurrence of endometriosis. CONCLUSISONS: (1) Young age of patients at the time of the first operation predisposes them to repeated appearance of endometrial cysts. (2) Laparoscopic removal of endometrial cysts and pregnancy after surgery decreases the risk of recurrence.

Association between DNMT3L polymorphic variants and the risk of endometriosis-associated infertility.

Endometriosis is considered to be an epigenetic disease. It has previously been reported that the DNA methyltransferase 3-like (DNMT3L) rs8129776 single nucleotide polymorphism (SNP) contributes to endometrioma. In the present study, high­resolution melting curve analysis was used to investigate the risks associated with the DNMT3L c.910­635A/G (rs8129776), c.832C/T (rs7354779), c.812C/T (rs113593938) and c.344+62C/T (rs2276248) SNPs on stage I­II endometriosis­associated infertility. Included in the present study were patients presenting with stage I­II endometriosis­associated infertility (n=154) and a control cohort of healthy patients with confirmed fertility (n=383). No significant association between the above­listed DNMT3L SNPs and the development of endometriosis­associated infertility was identified. The lowest P­values generated from trend analysis were observed in the DNMT3L c.832C/T (rs7354779) SNP (Ptrend=0.114). Furthermore, haplotype analyses of the DNMT3L SNPs failed to reveal any risk association between the development of endometriosis­associated infertility and the above­listed polymorphisms, even when the SNPs were present in combinations. Finally, a meta­analysis was performed to examine the association between the DNMT3L rs8129776 SNP and the development of endometrioma, from which no association between the two was identified. On the basis of these results, the present study has demonstrated that variations in the DNMT3L gene do not contribute to stage I-II endometriosis-associated infertility.