FSH RECEPTOR AND FSH BETA CHAIN POLYMORPHISM INVOLVEMENT IN INFERTILITY AND ENDOMETRIOSIS DISEASE.

OBJECTIVES: The purpose of this study was to evaluate the association between the follicle-stimulating hormone (FSH) receptor (c.-29G>A) and FSH beta chain (c.-280G>T) polymorphisms and endometriosis in Romanian women. MATERIAL AND METHODS: We performed the polymorphic analysis of the FSH receptor gene and FSH beta chain in 44 patients with endometriosis and 34 controls. Genomic DNA was obtained from peripheral blood and polymorphisms were investigated using restriction fragment length polymorphism analysis (RFLP). RESULTS: There were no significant differences in genotype frequencies of FSH receptor gene between endometriosis patients and controls. For the heterozygous type of the FSH receptor polymorphism (c.-29G>A) we did not find a significant difference in its frequency between patients with minimal/mild and moderate/severe endometriosis (p = 0.136). Also, the FSH beta chain (c.-280G> T) polymorphism frequency was not significantly associated with the severity of endometriosis (p = 0.966). CONCLUSIONS: FSH receptor and FSH beta chain polymorphisms do not seem to influence the severity of endometriosis, but they could be correlated with female infertility (primary or secondary), therefore further studies are required to debate this topic.

THE CORRELATION BETWEEN MARKERS OF SYSTEMIC INFLAMMATION AND ANGIOGENIC MARKERS IN PRE-ECLAMPSIA.

UNLABELLED: Pre-eclampsia is a severe multisystemic syndrome that represents a major cause of maternal, foetal and neonatal mortality and morbidity. In the study we conducted it stood out the. significant modifications of angiogenic markers in pregnant women suffering from pre-eclampsia and the existence of a correlation between C-reactive protein (CRP) and SBP, DBP and average BP. MATERIAL AND METHOD: The group included in the study consisted of 138 pregnant women hospitalized at the "Cuza-Voda" Clinical Hospital of Obstetrics and Gynaecology of Iasi, between 2012-2014, with over 20 weeks gestational age and which gave their free consent to take part in the study. RESULTS: It is confirmed the importance of determining the markers for diagnosing and monitoring hypertensive pregnant women and at the same time it was pointed out that the sFlt-1/PlGF ratio represents a good pre-eclampsia predictor. CONCLUSIONS: The results of our study confirm the importance of determining sFlt-l and PlGF as markers for diagnosing and monitoring pregnant women with HBP as well as the sFlt-l/ PlGF ratio which represents a good pre-eclampsia predictor.

Pregnancy and recurrence rates in infertile patients operated for ovarian endometriosis.

AIM: The study deals with the preoperative ultrasound diagnosis of ovarian endometriosis, postoperative ultrasound reassessment, laparoscopic surgical resolution of ovarian endometriosis, estimation of recurrence risk 12 months after surgery by ultrasound, reappearance of clinical symptoms (such as pain) or second-look laparoscopy, and pregnancy rate 2 years after surgery. MATERIAL AND METHODS: 140 patients with en- dometriosis and infertility admitted to the Iasi "Cuza-Voda" Clinical Hospital of Obstetrics and Gynecology between the years 2009-2011 were included in the study. The patients were divided into 2 groups: group 1-59 cases that refused in vitro fertilization procedures, did not afford in vitro fertilization (IVF) or had minimal endometriosis and young ages and thus a possibility of delaying treatment, and group 2--62 cases which underwent IVF procedures immediately after surgery. RESULTS: No significant differences in the chance of becoming pregnant were found between the two groups (χ2 = 2.06, p = 0.0891, 95% CI); in group 1, 11.86% pregnancies were obtained while in group 2 the pregnancy rate was 11.29%. Based on the nonparametric method of analysis of contingency tables we could estimate the odds of becoming pregnant in the study groups, obtaining an odds ratio (OR = 1.16, CI: 1.04-2.23, 95% CI). This result indicated that in group 1 the odds of becoming pregnant was not significantly higher, and the estimation was made for a confidence interval of 95%. The study had in view the assessment of pregnancies obtained in the study groups and the time interval (number of weeks) from the time of intervention until the occurrence of pregnancy. The Kaplan-Meier analysis enabled the assessment of the mean value and the median value of the number of weeks until becoming pregnant, and these values did not show significant differences (χ2 = 1.55, p = 0.212, 95% CI). CONCLUSIONS: For endometriosis associated with infertility, hormonal suppression does not improve fertility, and therefore surgery followed by controlled ovarian hyperstimulation and intrauterine insemi- nation (IUI), provided the anatomy of the pelvis is preserved in early cases or in vitro fertilization in severe cases is preferred.

Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and genetic counseling difficulties in 15 cases.

UNLABELLED: Prenatal diagnosis (PD) by FISH or cell culture is today an important tool for the prevention of chromosomal anomalies. A difficult issue is prenatal detection of gonosomal anomalies. Most gonosomal anomalies neither affect life expectancy nor cause psychomotor retardation, but sexualization disorders and the lack of reproductive potential are a constant finding. AIM: This study aimed at identifying the medical problems the specialists and the parental couple are faced with at the time of the diagnosis of fetal gonosomal anomalies. MATERIAL AND METHODS: This retrospective study (2004-2012) was conducted in the Prenatal Genetic Diagnosis Department of "CuzaVoda" Maternity by FISH technique in 1685 pregnancies. The AneuVysion probes were used for identifying and enumerating chromosomes 13, 18, 21, X, and Y via fluorescence in situ hybridization (FISH) in interphase nuclei obtained from amniotic fluid. RESULTS: Fifteen fetuses were selected in which we were faced with difficulties interpreting the number of gonosomes: monosomy X (5 cases), pseudomosaicism XX/XY (3), trisomy XXY (3 cases), trisomy XYY (1 case), 45,X/46.XX mosaicism (1 case) and triploidy XXX (2 cases). Later, by repeating the analysis, 2 cases with pseudomosaicism XX/XY were excluded. A case highlighting the limitations of the FISH test was that of a fetus in which the FISH test revealed trisomy XXY, while postnatal karyotyping showed a six cell line mosaicism (marker and ring X chromosomes). CONCLUSIONS: All parental couples received nondirective genetic counseling, respecting the individuals' dignity and rights of self-determination. Parents received information on the natural course of the disease, treatment options, and psychological support and were involved in their child's recovery.

[Enhanced molecular techniques for the diagnosis of human papillomavirus infections]. / Optimizarea unor tehnici de biologie moleculara pentru diagnosticul infectiilor cu virusuri papilloma umane.

OBJECTIVES: optimisation of Real Time PCR technique for quantifying oncogenic types 16 and 18 of Human Papilloma Viruses, genotyped through classic PCR, followed by hybridisation. MATERIAL AND METHOD: DNA/ HPV was purified with High Pure PCR Template Preparation kit (ROCHE DIAGNOSTICS), genotyping was performed with Linear Array HPV Genotyping (ROCHE DIAGNOSTICS) and PCR reaction was realized with ABI 9700 Gold Plate System. Absolute quantification of HPV 16 and 18 was performed with Path-HPV16/18 Real-time PCR detection kit for Human Papillomavirus, 2 x Precision Mastermix kits (PrimerDesign), and the instrument used was MX3000P STRATAGENE. RESULTS: I. HPV genotyping was optimised through testing of 12 cervical samples, collected from patients who have signed the informed consent approved by the local Bioethical Committee. Among the tested samples, 5 were negative for any HPV type, 3 patients had unique infections with oncogenic HPV type, and 2 patients had multiple infections, with oncogenic and non-oncogenic HPV types. Negative and positive controls were validated, identical as the internal control - beta globin gene. II. Absolute quantification for HPV 16 and 18 were performed on two samples tested by the previous method. The number of viral copies was determined using the standard curves procedure, whose parameters values were between the accepted limits. CONCLUSIONS: We fulfilled the quality criteria for both techniques: genotyping assay and viral load quantification by Real Time PCR. This allows us to start the study for monitoring persistent infections with HPV 16 and HPV 18.

[Intrapartum fetal heart rate changes during baseline T/QRS rise events in acidotic fetuses]. / Variatia frecventei cardiace fetale intrapartum asociata cresterii liniei de baza a T/QRS la fetusii cu acidoza.

UNLABELLED: Our objective was to assess the association between fetal heart rate (FHR) and the amplitude of baseline T/QRS rise events during labour in normal and acidotic fetuses. MATERIAL AND METHOD: Into a retrospective case-control setting, we analyzed STAN traces from acidotic (pH < 7.05, n = 39) and normal fetuses (n = 33) at birth, with baseline T/QRS rise type ST-event in fetal electrocardiogram. Mean FHR was computed over a 2-minute period associated with baseline T/QRS rise event. We described a control FHR segment, 10 minutes before first occurrence of baseline T/QRS rise event. We compared the mean FHR from ST-events, with data from control segment, in relation to the amplitude of T/QRS rise, for acidotic and normal fetuses. RESULTS: We found that, during the increase in the baseline of T/QRS, the mean frequency gradually and significantly decreased. This was quick and deep in normal fetuses and small, followed by a plateau, till high T/QRS values for acidotic group. However, for high T/QRS values, both groups had similar decreased values. CONCLUSION: We conclude that changes of FHR related to increase of T/QRS baseline are less pronounced in fetuses dealing with acidosis, probably due to activation of sympathetic system. This should enable us to intervene in the appropriate manner when the fetal defenses have been activated but before there is an increased risk of long-term squeals.

[Prune-belly syndrome prenatal diagnosis]. / Sindromul prune-belly diagnosticat la 19 saptamani de amenoree.

We present the ultrasonographic diagnosis at the 19th gestational week in a case of Prune-belly syndrome which consists in abdominal wall distension with deficiency of the abdominal wall musculature, urinary tract abnormalities (specially mega bladder), and in males, cryptorchidism. The pathologic examination found the patient devoid of striated muscles anterior abdominal wall, hypertrophy of the urinary bladder, and urethral atresia. The Prune-belly is accessible to antenatal diagnosis and the variable prognosis does not always justify abortion.