Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2024;46:e-rbgo12
Endometriosis is a complex disease that affects 10-15% of women of reproductive age. Familial studies show that relatives of affected patients have a higher risk of developing the disease, implicating a genetic role for this disorder. Little is known about the impact of germline genomic copy number variant (CNV) polymorphisms on the heredity of the disease. In this study, we describe a rare CNV identified in two sisters with familial endometriosis, which contain genes that may increase the susceptibility and progression of this disease. We investigated the presence of CNVs from the endometrium and blood of the sisters with endometriosis and normal endometrium of five women as controls without the disease using array-CGH through the Agilent 2x400K platform. We excluded common CNVs that were present in the database of genomic variation. We identified, in both sisters, a rare CNV gain affecting 113kb at band 3q12.2 involving two candidate genes: ADGRG7 and TFG. The CNV gain was validated by qPCR. ADGRG7 is located at 3q12.2 and encodes a G protein-coupled receptor influencing the NF-kappaβ pathway. TFG participates in chromosomal translocations associated with hematologic tumor and soft tissue sarcomas, and is also involved in the NF-kappa B pathway. The CNV gain in this family provides a new candidate genetic marker for future familial endometriosis studies. Additional longitudinal studies of affected families must confirm any associations between this rare CNV gain and genes involved in the NF-kappaβ pathway in predisposition to endometriosis.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2022;44(8):785-789
To assess the quality of recent meta-analyses reviewing the diagnostic utility of sentinel node biopsy in endometrial cancer.
With the MeSH terms endometrial neoplasms and sentinel lymph node biopsy, PubMed and Embase databases were searched on October 21, 2020, and again on November 10, 2021, with meta-analysis and publication date filters set to since 2015. The articles included were classified with the A Measurement Tool to Assess Systematic Reviews (AMSTAR 2) assessment tool.
The database searches found 17, 7 of which, after the screening, were selected for full review by the author, finally extracting six meta-analyzes for quality analysis. The rating with the AMSTAR 2 assessment tool found that overall confidence in their results was critically low.
This study found that the quality of recent meta-analyses on the utility of the staging of endometrial cancer with sentinel node biopsy, evaluated by the AMSTAR 2 assessment tool, is classified as critically low, and, therefore, these meta-analyses are not reliable in the summary of their studies.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2019;41(6):409-411
Endometrial tuberculosis is a rare diagnosis in the postmenopausal period, and it can mimic a carcinoma. The present article describes the case of a 54-year-old female patient with weight loss, abdominal pain, and ascites. An ultrasonography showed endometrial thickening, and a video hysteroscopy revealed a uterine cavity with formations with cotton aspect covering the entire endometrial surface and the tubal ostia. An anatomopathological evaluation diagnosed endometrial tuberculosis. The treatment was with a standardized therapeutic scheme (ethambutol, isoniazid, pyrazinamide and rifampicin), and the patient evolved with clinical improvement and normal uterine cavity at hysteroscopy. Considering the lack of pathognomonic hysteroscopic findings of the disorder, it is important to disclose the images of the case.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2013;35(6):243-248
DOI 10.1590/S0100-72032013000600002
PURPOSE: To evaluate the accuracy of sonographic endometrial thickness and hysteroscopic characteristics in predicting malignancy in postmenopausal women undergoing surgical resection of endometrial polyps. METHODS: Five hundred twenty-one (521) postmenopausal women undergoing hysteroscopic resection of endometrial polyps between January 1998 and December 2008 were studied. For each value of sonographic endometrial thickness and polyp size on hysteroscopy, the sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated in relation to the histologic diagnosis of malignancy. The best values of sensitivity and specificity for the diagnosis of malignancy were determined by the Receiver Operating Characteristic (ROC) curve. RESULTS: Histologic diagnosis identified the presence of premalignancy or malignancy in 4.1% of cases. Sonographic measurement revealed a greater endometrial thickness in cases of malignant polyps when compared to benign and premalignant polyps. On surgical hysteroscopy, malignant endometrial polyps were also larger. An endometrial thickness of 13 mm showed a sensitivity of 69.6%, specificity of 68.5%, PPV of 9.3%, and NPV of 98% in predicting malignancy in endometrial polyps. Polyp measurement by hysteroscopy showed that for polyps 30 mm in size, the sensitivity was 47.8%, specificity was 66.1%, PPV was 6.1%, and NPV was 96.5% for predicting cancer. CONCLUSIONS: Sonographic endometrial thickness showed a higher level of accuracy than hysteroscopic measurement in predicting malignancy in endometrial polyps. Despite this, both techniques showed low accuracy for predicting malignancy in endometrial polyps in postmenopausal women. In suspected cases, histologic evaluation is necessary to exclude malignancy.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2013;35(1):05-09
DOI 10.1590/S0100-72032013000100002
PURPOSE: To assess if arylsulfatase A activity (ASA) and sulfatide (SL) concentration in the human endometrium can be predictive of the development of endometrial polyps over the years, since ASA activity reflects the endometrial sensitivity to hormones. METHODS: ASA activity and SL concentration were determined by biochemical procedures on endometrial samples collected between 1990 and 1994 in non-menopausal women. These women underwent a new endometrial sampling following the clinical indication some years after the first endometrial sampling. The histological assessment of the second endometrial specimens found four patients with normal endometrial pattern and 10 patients with one or more endometrial polyps. ASA activity/years elapsed and SL concentration/years elapsed were compared using two tailed Mann-Whitney test for unpaired data between patients with normal pattern and patients with endometrial polyps. RESULTS: Median ASA activities were 2.62 (normal pattern) versus 1.85 (endometrial polyps) nmol hydrolized substrate/min. Median activity/years elapsed is higher in patients with second endometrial sample presenting normal pattern (p=0.006) and median SL concentration/years elapsed does not differ significantly among groups, even if median SL concentration seems to be higher in patients who subsequently developed polyps (1031 µg/g of fresh tissue versus 341,5 µg/g of fresh tissue). CONCLUSIONS: ASA activity can predict the onset of endometrial polyps over the years.
Summary
Revista Brasileira de Ginecologia e Obstetrícia. 2012;34(3):122-127
DOI 10.1590/S0100-72032012000300006
PURPOSE: To compare the diagnostic accuracy of sonohysterography (HSN) and conventional transvaginal ultrasound (USG) in assessing the uterine cavity of infertile women candidate to assisted reproduction techniques (ART). METHODS: Comparative cross-sectional study with 120 infertile women candidate to ART, assisted at Centro de Reprodução Assistida (CRA) of Hospital Regional da Asa Sul (HRAS), Brasília - DF, from August 2009 to November 2010. Sonohysterography was performed with saline solution infusion in a close system. The sonohysterography finding was compared to previous USG results. The uterine cavity was considered abnormal when the endometrium was found to be thicker than expected during the menstrual cycle and when an endometrial polyp, a submucous myoma and an abnormal shape of the uterine cavity were observed. The statistical analysis was done using absolute frequencies, percentage values and the χ², with the level of significance set at 5%. RESULTS: HSN revealed that 92 (76.7%) infertile women candidate to ART had a normal uterine cavity, while 28 (23.3%) had the following abnormalities: 15 polyps (12.5%), 9 cases of abnormal shape of the uterine cavity (7.5%), 6 submucous myomas (5%), 4 cases of inadequate endometrial thickness for the menstrual cycle phase (3.3%), and 2 cases of uterine septum (1.7%); 5 women presented more than one abnormality (4.2%). While USG showed alteration in the cavity only in 5 (4.2%) women, the sonohysterography confirmed 4 out of the 5 abnormalities shown by USG and detected an abnormal uterine cavity in 24 other women, who had not been detected by USG. This means that sonohysterography was able to detect more abnormalities in the uterine cavity than USG, with a statistically significant difference (p=0.002). CONCLUSION: The sonohysterography was more accurate than USG in the assessment of the uterine cavity of this cohort of infertile women candidate to ART. The sonohysterography can be easily incorporated into the investigation of these women and contribute to reducing embryo implantation failures.