Hélio Sato

Evaluation of Quality of Life and Sexual Satisfaction in Women Suffering from Chronic Pelvic Pain With or Without Endometriosis

INTRODUCTION Chronic pelvic pain (CPP) is one of the most frequent symptoms in women of reproductive age. This is an enigmatic clinical condition that results from the complex interactions of physiological and psychological factors with direct impact on the social, marital, and professional lives of women. AIM To evaluate the quality of life and sexual satisfaction of women who suffer from CPP with or without endometriosis. METHOD Forty-nine patients who had been diagnosed with endometriosis and 35 patients with CPP diagnosed with another gynecological condition, all 84 of whom were treated at the Chronic Pelvic Pain and Endometriosis Clinic at Universidade Federal de São Paulo (UNIFESP) from January to July of 2008. The controls were 50 healthy women from the Family Planning Clinic at UNIFESP. MAIN OUTCOME MEASURES World Health Organization Quality of Life Assessment-Bref (WHOQOL-BREF) quality of life questionnaire and the Golombok-Rust Inventory of Sexual Satisfaction (GRISS). RESULTS No statistically significant differences were observed between the groups with CPP symptoms, in either the results from the WHOQOL-BREF or in the GRISS questionnaire. In both questionnaires, differences were observed when the two groups of symptomatic women were compared with the group of healthy women. CONCLUSION CPP caused by endometriosis or other gynecological conditions leads to a significant reduction of quality of life and sexual satisfaction.

P27Kip1 is down-regulated in the endometrium of women with endometriosis

OBJECTIVE To evaluate p27 protein expression in the endometrium of women with endometriosis. DESIGN Transversal case-control study. SETTING Endometriosis Unit, Federal University of São Paulo, Brazil. PATIENT(S) Thirteen patients with stage I/II endometriosis, five with stage III/IV endometriosis, and 11 control subjects. INTERVENTION(S) Endometrial biopsies were obtained from patients with proven endometriosis and women without disease at laparoscopy. P27 protein was immunolocalized in the biopsy tissues and quantified by light microscopy. MAIN OUTCOME MEASURE(S) Immunostaining scores of glandular and stromal cells in endometrial biopsies obtained from patients with confirmed endometriosis compared with those of healthy control women with normal pelvis at laparoscopy. The staining scores of stage I/II and stage III/IV patients and of both patient groups and the control group were compared. RESULT(S) The level of p27 protein expression observed in the control group, both in the stroma and in the endometrial glands, was significantly different from that observed in the endometriosis patient groups. Significant differences in p27 protein expression levels in the glandular epithelium and stroma were not observed among groups of patients with endometriosis. CONCLUSION(S) The decreased level of p27 protein in the endometrium of women with endometriosis suggests that cell cycle alterations in the endometrial mucosa may be involved in the pathogenesis of this disease.

Endometriosis of the Round Ligament of the Uterus

STUDY OBJECTIVE To demonstrate the prevalence of endometriosis in the intrapelvic portion of the round ligaments of the uterus (RLUs) and to propose criteria for their excision. DESIGN Retrospective case series analysis of women undergoing laparoscopy for the treatment of deep infiltrating endometriosis (Canadian Task Force classification II-3). SETTING Tertiary referral hospital. PATIENTS We evaluated 174 patients who underwent laparoscopy for the treatment of deep infiltrating endometriosis (DIE) between April 2006 and May 2009. INTERVENTIONS All patients underwent laparoscopy for the treatment of DIE and had their RLUs removed when there was shortening, deviation, or thickening. After removal, the RLUs were sent for histopathologic analysis to verify the presence or absence of endometriosis. MEASUREMENTS AND MAIN RESULTS The prevalence of endometriosis in the RLUs and the association between the macroscopic alterations and the anatomic pathology results were determined. After the identification of macroscopic alterations, 1 or both RLUs (for a total of 42) were removed from 27 of the 174 patients who underwent laparoscopy. The positive predictive value (PPV) of the macroscopic criteria proposed for endometriosis of the RLU was 83.3% (95% confidence interval [CI] = 72.1%-94.5%), with 35 positive RLUs out of the 42 that were excised. The prevalence of endometriosis of the RLU was 13.8% (95% CI = 8.7%-18.9%), with 24 patients having a positive histopathologic examination result for endometriosis. CONCLUSIONS The prevalence of RLU endometriosis in patients with DIE was 13.8%, which emphasizes that a rigorous evaluation of this structure must be part of the routine surgical treatment of patients with endometriosis.

Polymorphisms in exons 1B and 1C of the type I interleukin-1 receptor gene in patients with endometriosis.

Problem  To study possible correlation between the prevalence of polymorphisms in the type I interleukin‐1 receptor gene and pelvic endometriosis.

Disrupted Cell Cycle Control in Cultured Endometrial Cells from Patients with Endometriosis Harboring the Progesterone Receptor Polymorphism PROGINS

Presently, little is understood about how endometriosis is established or maintained, or how genetic factors can predispose women to the disease. Because of the crucial role that the progesterone receptor polymorphism PROGINS plays in predisposing women to the development of endometriosis, we hypothesized that this variant may influence critical steps during endometrial cell metabolism that are involved in the pathogenesis of endometriosis. Eutopic endometria were collected from three sources: women with endometriosis who had a single PROGINS allele (from the progesterone receptor gene); women with endometriosis who had the wild-type progesterone receptor allele; and women without endometriosis who had the wild-type allele. Cells prepared from the eutopic endometria of these women were stimulated with both estradiol and progesterone, and then examined for cell proliferation, viability, and apoptosis. The cells from women with endometriosis that carried the PROGINS allele demonstrated increased proliferation, greater viability, and decreased apoptosis following progesterone treatment. In general, these parameters were very different as compared with those of women with endometriosis but without the PROGINS allele and women in the control group. This result indicates there is a reduced level of progesterone responsiveness in women who carry the PROGINS polymorphism. Because progesterone responsiveness is known to be an important characteristic of women with endometriosis, these data support the contention that the PROGINS polymorphism enhances the endometriosis phenotype.

The V109G polymorphism in the p27 gene is associated with endometriosis

OBJECTIVE To investigate the prevalence of the p27 gene polymorphism in women with endometriosis. STUDY DESIGN Transversal case-control study. Genomic DNA was extracted from cells collected from buccal swabs. The p27 V109G polymorphism was investigated using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in a hospital-based Brazilian population. RESULTS We analysed the 104 patients and 109 control subjects. The distribution of genotype and allele frequencies of p27 V109G polymorphism was significantly different between the endometriosis cases and healthy women (p=0.016 and 0.002). Women who had at least one mutated allele presented twofold chances for endometriosis development (OR=1.9; 95% CI, 1.120-3.343). CONCLUSION The polymorphic variant at codon 109 of the p27 gene seems to be associated with higher risk of endometriosis development.

Intron 1 and exon 1 alpha estrogen receptor gene polymorphisms in women with endometriosis

OBJECTIVE To evaluate the association of intron 1 and exon 1 polymorphisms in the estrogen receptor alpha gene (ER-alpha) with endometriosis in women. DESIGN Association study. SETTING Endometriosis Unit, Federal University of São Paulo. PATIENT(S) The control group consisted of volunteers older than 45 years who had no evidence of endometriosis antecedents. Two groups with the disease were evaluated: the first group had stage I or II endometriosis and the second group stage III or IV. INTERVENTION(S) Polymerase chain reaction (PCR) followed by digestion with HaeIII and MspI endonucleases (RFLP) were applied to detect intron 1 and exon 1 polymorphisms, respectively, in a total of 125 controls and 105 affected women. MAIN OUTCOME MEASURE(S) Frequency and distribution of HaeIII and MspI polymorphisms in ER-alpha. RESULT(S) No significant differences in the frequency of polymorphisms either in intron 1 or exon 1 of ER-alpha were found when endometriosis patients were compared with control subjects. Furthermore, the frequency of ER-alpha polymorphisms within the two different groups of patients with disease was statistically similar. The odds ratio between presence of intron 1 single-nucleotide polymorphisms (SNP) and endometriosis was 0.904, and the odds ratio between exon 1 SNP and endometriosis was 0.976. CONCLUSION(S) The evaluated polymorphisms were not associated with endometriosis.

TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population

We evaluated the association between TP53 gene polymorphisms and endometriosis in Brazilian women. Genomic DNA was extracted from swabs of buccal cells collected from hospital patients. TP53 gene polymorphisms were investigated at three codons: TP53 11 Glu/Gln or Lys (GAG->CAG or AAG), TP53 72 Arg/Pro (CCG->CCC), and TP53 248 Arg/Thr (CGG->TCG) using the polymerase chain reaction-restriction fragment length polymorphism method. TP53 11 presented the following genotypic distribution: the control group was 98.28% homozygous wild-type (Glu) and 1.72% homozygous variant (Gln/Lys), and the heterozygous genotype was not identified. The genotypic distribution in the endometriosis group was 96% homozygous wild-type (Glu) and 4% heterozygous (Glu-Gln/Lys); the homozygous variant genotype was not identified (P = 0.02). TP53 72 showed the following genotypic distribution: the control group was 29.75% homozygous wild-type (Arg), 47.11% heterozygous (Arg-Pro), and 23.14% homozygous variant (Pro). The genotypic distribution in the endometriosis group was 16.15% homozygous wild-type (Arg), 51.54% heterozygous (Arg-Pro), and 32.31% homozygous variant (Pro) (odds ratio = 2.26; 95% confidence interval = 1.19-4.03; P = 0.02). Only one patient had the homozygous TP53 248 genotype (Arg-Trp/Gln); all other patients were homozygous wild-type in both the control and endometriosis groups (P = 0.51; NS). We found that TP53 72 polymorphism may be associated with susceptibility to endometriosis; the presence of at least 1 polymorphic allele increased the chance of disease development by 2.26-fold. Hence, this genetic variant is a potential candidate marker for endometriosis.

Polimorfismo do gene do receptor de progesterona (PROGINS) em mulheres com endometriose pélvica

OBJECTIVE: the aim of the present study was to verify whether there is a correlation between the prevalence of the polymorphism in the progesterone receptor gene named PROGINS and pelvic endometriosis at different stages. METHODS: a case-control study carried out from November 2003 to May 2004. The genotypes of 104 women were analyzed 66 women had had surgically confirmed endometriosis (26 women at stages I-II and 40 at stages III-IV), and 38 were healthy women. The 306-base pair Alu insertion polymorphism in the intron G of the progesterone receptor gene was detected by polymerase chain reaction and analyzed on 2% agarose gel stained with ethidium bromide. ANOVA analysis was performed in order to make comparisons between among the studied groups. RESULTS: the groups of women with endometriosis stages I-II (EndoI group) and stages III-IV (EndoII group) showed statistically significant increased incidence of PROGINS polymorphic allele as compared with the control group: 27% in the EndoI group, 38% in EndoII and 18% in the control group (p < 0.001. In the analyses, a high frequency of the PROGINS insertion was observed in women with endometriosis as compared to healthy women, disregarding the clinical stage of the disease (p = 0.0385). CONCLUSION: there is a significant statistical association between the PROGINS polymorphism and pelvic endometriosis.