Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia最新文献

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Screening and prevention of preterm birth: how is it done in clinical practice? 早产筛查与预防:临床实践是如何进行的?
Roberta Bulsing Dos Santos, Janete Vettorazzi, Marcos Wengrover Rosa, Ellen Machado Arlindo, Edimárlei Gonsales Valério
{"title":"Screening and prevention of preterm birth: how is it done in clinical practice?","authors":"Roberta Bulsing Dos Santos, Janete Vettorazzi, Marcos Wengrover Rosa, Ellen Machado Arlindo, Edimárlei Gonsales Valério","doi":"10.61622/rbgo/2024rbgo32","DOIUrl":"10.61622/rbgo/2024rbgo32","url":null,"abstract":"<p><strong>Objective: </strong>To ascertain how screening for preterm birth is performed among obstetricians working in public and private practice in a middle-income country.</p><p><strong>Methods: </strong>Cross-sectional study of 265 obstetrician-gynecologists employed at public and private facilities. An online questionnaire was administered, with items designed to collect data on prematurity screening and prevention practices.</p><p><strong>Results: </strong>The mean age of respondents was 44.5 years; 78.5% were female, and 97.7% had completed a medical residency program. Universal screening (i.e., by ultrasound measurement of cervical length) was carried out by only 11.3% of respondents in public practice; 43% request transvaginal ultrasound if the manual exam is abnormal, and 74.6% request it in pregnant women with risk factors for preterm birth. Conversely, 60.7% of respondents in private practice performed universal screening. This difference in screening practices between public and private practice was highly significant (p < 0.001). Nearly all respondents (90.6%) reported prescribing vaginal progesterone for short cervix.</p><p><strong>Conclusion: </strong>In the setting of this study, universal ultrasound screening to prevent preterm birth was used by just over half of doctors in private practice. In public facilities, screening was even less common. Use of vaginal progesterone in cervical shortening was highly prevalent. There is an unmet need for formal protocols for screening and prevention of preterm birth in middle-income settings.</p>","PeriodicalId":74699,"journal":{"name":"Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia","volume":"46 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11075380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Transforming growth factor beta-1 (TGF-β1) expression in patients with adenomyosis. 子宫腺肌症患者体内转化生长因子β-1(TGF-β1)的表达。
Andreia Jacobo, Renata Fogaça Borges, Carlos Augusto Bastos de Souza, Vanessa Krebs Genro, João Sabino Cunha-Filho
{"title":"Transforming growth factor beta-1 (TGF-β1) expression in patients with adenomyosis.","authors":"Andreia Jacobo, Renata Fogaça Borges, Carlos Augusto Bastos de Souza, Vanessa Krebs Genro, João Sabino Cunha-Filho","doi":"10.61622/rbgo/2024rbgo31","DOIUrl":"10.61622/rbgo/2024rbgo31","url":null,"abstract":"<p><strong>Objective: </strong>To compare Transforming growth factor beta-1 (TGF-β1) expression in patients with and without adenomyosis.</p><p><strong>Methods: </strong>A prospective design was performed including 49 patients submitted to hysterectomy. Immunohistochemistry was performed on anatomopathological samples staged in paraffin blocks from patients with and without adenomyosis. The sample contained 28 adenomyosis cases and 21 controls. Student's <i>t</i>-test and multivariate logistic regression tests were used for statistical analysis. Associations were considered significant at <i>p</i> < 0.05.</p><p><strong>Results: </strong>We found no significant association between adenomyosis and: smoking (<i>p</i> = 0.75), miscarriage (<i>p</i> = 0.29), number of previous pregnancies (<i>p</i> = 0.85), curettage (<i>p</i> = 0.81), pelvic pain (<i>p</i> = 0.72) and myoma (<i>p</i> = 0.15). However, we did find a relationship between adenomyosis and abnormal uterine bleeding (AUB) (<i>p</i> = 0.02) and previous cesarean section (<i>p</i> = 0.02). The mean TGF-β1 intensity (mean ± SD) in the ectopic endometrium of women with adenomyosis showed no significant association (184.17 ± 9.4 vs.184.66 ± 16.08, <i>p</i> = 0.86) from the topic endometrium of women without adenomyosis.</p><p><strong>Conclusion: </strong>TGF-β1 expression was not increased in the ectopic endometrium of women with adenomyosis.</p>","PeriodicalId":74699,"journal":{"name":"Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia","volume":"46 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11075419/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141065505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gender affirming hormone therapy and transgender women fertility: Histologic predictors of germ cell presence. 性别肯定激素疗法与变性妇女的生育能力:生殖细胞存在的组织学预测因素。
Lina Rigodanzo Marins, Tiago Elias Rosito, Lucia Maria Kliemann, Edson Capp, Helena von Eye Corleta
{"title":"Gender affirming hormone therapy and transgender women fertility: Histologic predictors of germ cell presence.","authors":"Lina Rigodanzo Marins, Tiago Elias Rosito, Lucia Maria Kliemann, Edson Capp, Helena von Eye Corleta","doi":"10.61622/rbgo/2024rbgo33","DOIUrl":"10.61622/rbgo/2024rbgo33","url":null,"abstract":"<p><strong>Objective: </strong>Evaluate histological changes in testicular parameters after hormone treatment in transgender women.</p><p><strong>Methods: </strong>Cross-section study with patients who underwent gonadectomy at Hospital de Clínicas de Porto Alegre from 2011 to 2019. Hormone treatment type, route of administration, age at initiation and duration were recorded. Atrophy parameters were observed: testicular volume, tubular diameter, basal membrane length, presence of spermatogonia and spermatids (diploid and haploid spermatozoid precursors).</p><p><strong>Results: </strong>Eighty-six patients were included. Duration of hormone treatment is associated with testicular atrophy and spermatogenesis arrest. Other characteristics of hormone treatment such as age of initiation, route of administration and type of treatment were not associated with testicular histological changes. Testicular volume may predict spermatogenesis arrest. Basal membrane length and tubular diameter ratio is an interesting predictor of germ cell presence.</p><p><strong>Conclusion: </strong>Cross-sex hormone treatment affects testicular germ cell presence. Basal membrane length and tubular diameter ratio reduces inter variability of measurements and better exemplify how atrophic seminiferous tubules are. Fertility preservation should be addressed by healthcare providers in order to recognize gender affirming treatment impact on transgender health.</p>","PeriodicalId":74699,"journal":{"name":"Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia","volume":"46 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11075381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Letter to Editor: In response to existence of SARS-CoV-2 in the peritoneal fluid. 致编辑的信:针对腹腔液中存在 SARS-CoV-2 的问题。
Gustavo Romero-Velez, Guillermo Ponce de Leon-Ballesteros, Juan Barajas-Gamboa, Jerry Dang, Andrew Strong, Mathew Kroh
{"title":"Letter to Editor: In response to existence of SARS-CoV-2 in the peritoneal fluid.","authors":"Gustavo Romero-Velez, Guillermo Ponce de Leon-Ballesteros, Juan Barajas-Gamboa, Jerry Dang, Andrew Strong, Mathew Kroh","doi":"10.61622/rbgo/2024rbgo24","DOIUrl":"10.61622/rbgo/2024rbgo24","url":null,"abstract":"","PeriodicalId":74699,"journal":{"name":"Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia","volume":"46 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11075428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vulvovaginitis in pregnant women. 孕妇外阴阴道炎。
Geraldo Duarte, Iara Moreno Linhares, Regis Kreitchmann, Andréa da Rocha Tristão, Evelyn Traina, Ivete Canti, Marcos Takimura, Joelma Queiroz Andrade
{"title":"Vulvovaginitis in pregnant women.","authors":"Geraldo Duarte, Iara Moreno Linhares, Regis Kreitchmann, Andréa da Rocha Tristão, Evelyn Traina, Ivete Canti, Marcos Takimura, Joelma Queiroz Andrade","doi":"10.61622/rbgo/2024FPS03","DOIUrl":"10.61622/rbgo/2024FPS03","url":null,"abstract":"<p><p>• The balanced vaginal microbiome is the main factor defending the vaginal environment against infections. Lactobacilli play a key role in this regard, maintaining the vaginal pH within the normal range (3.8 to 4.5). •Hormonal and immune adaptations resulting from pregnancy influence changes in the vaginal microbiome during pregnancy. •An altered vaginal microbiome predisposes to human immunodeficiency virus (HIV) infection. •Bacterial vaginosis is the main clinical expression of an imbalanced vaginal microbiome. •Vulvovaginal candidiasis depends more on the host's conditions than on the etiological agent. •<i>Trichomonas vaginalis</i> is a protozoan transmitted during sexual intercourse. •The use of probiotics is not approved for use in pregnant women.</p>","PeriodicalId":74699,"journal":{"name":"Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia","volume":"46 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11075393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Use of hormones and risk of venous thromboembolism. 使用激素与静脉血栓栓塞风险。
Venina Isabel Poço Viana Leme de Barros, André Luiz Malavasi Longo de Oliveira, Denis Jose do Nascimento, Eduardo Zlotnik, Marcelo Melzer Teruchkin, Marcos Arêas Marques, Paulo Francisco Ramos Margarido
{"title":"Use of hormones and risk of venous thromboembolism.","authors":"Venina Isabel Poço Viana Leme de Barros, André Luiz Malavasi Longo de Oliveira, Denis Jose do Nascimento, Eduardo Zlotnik, Marcelo Melzer Teruchkin, Marcos Arêas Marques, Paulo Francisco Ramos Margarido","doi":"10.61622/rbgo/2024FPS02","DOIUrl":"10.61622/rbgo/2024FPS02","url":null,"abstract":"<p><p>•The risk of venous thromboembolism (VTE) is not increased in women using long-acting reversible contraceptive methods (LARCs) with progestogens. •Oral contraceptives with levonorgestrel or norgestimate confer half the risk of VTE compared to oral contraceptives containing desogestrel, gestodene or drospirenone. •Progestogen-only pills do not confer an increased risk of VTE. •Women using transdermal contraceptive patches and combined oral contraceptives (COCs) are at an approximately eight times greater risk of VTE than non-users of hormonal contraceptives (HCs), corresponding to 9.7 events per 10,000 women/years. •Vaginal rings increase the risk of VTE by 6.5 times compared to not using HC, corresponding to 7.8 events per 10,000 women/years. •Several studies have demonstrated an increased risk of VTE in transgender individuals receiving hormone therapy (HT). •Hormone therapy during menopause increases the risk of VTE by approximately two times, and this risk is increased by obesity, thrombophilia, age over 60 years, surgery and immobilization. •The route of estrogen administration, the dosage and type of progestogen associated with estrogen may affect the risk of VTE in the climacteric. •Combined estrogen-progesterone therapy increases the risk of VTE compared to estrogen monotherapy. •Postmenopausal HT increases the risk of thrombosis at atypical sites.</p>","PeriodicalId":74699,"journal":{"name":"Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia","volume":"46 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11075397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141065948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Translation, cross-cultural adaptation to Brazilian Portuguese and measurement properties of the WaLIDD score. WaLIDD评分的翻译、巴西葡萄牙语的跨文化调整和测量特性。
Mariana Arias Avila, Guilherme Tavares de Arruda, Amanda Garcia de Godoy, Patricia Driusso
{"title":"Translation, cross-cultural adaptation to Brazilian Portuguese and measurement properties of the WaLIDD score.","authors":"Mariana Arias Avila, Guilherme Tavares de Arruda, Amanda Garcia de Godoy, Patricia Driusso","doi":"10.61622/rbgo/2024AO16","DOIUrl":"10.61622/rbgo/2024AO16","url":null,"abstract":"<p><strong>Objective: </strong>Dysmenorrhea is the pain related to menstruation; to screen for the symptoms, a working ability, location, intensity of days of pain, and dysmenorrhea (WaLIDD) score was created. The purpose of this work was to culturally adapt and assess the measurement properties of the WaLIDD score for dysmenorrhea in Brazilian women.</p><p><strong>Methods: </strong>In this cross-sectional online study, we evaluated women with and without dysmenorrhea. Criterion validity and construct validity were assessed, respectively, by the Receiver Operator Characteristic (ROC) curve and correlations with the bodily pain and social functioning domains of medical outcomes study 36-item short-form health survey (SF-36), self-report of absenteeism and Stanford Presenteeism Scale for presenteeism. Test-retest reliability and measurement errors were assessed, respectively, by intraclass correlation coefficient (ICC) and Bland and Altman Graph.</p><p><strong>Results: </strong>430 women completed the test, 238 (55.4%) women had dysmenorrhea, and 199 (46.3%) answered the questionnaire twice for the retest. The cutoff points ≥4, ≥5, and ≥5 could discriminate between women with and without dysmenorrhea, absenteeism, and presenteeism related to dysmenorrhea, respectively. Correlations between SF-36 - pain and social functioning domains and WaLIDD score were weak to strong and negative. For WaLIDD total Score, ICC was 0.95 and the limits of agreement were -1.54 and 1.62.</p><p><strong>Conclusion: </strong>WaLIDD score is a short, valid and reliable instrument to screen and predict dysmenorrhea and could predict absenteeism and presenteeism related to dysmenorrhea in Brazilian women.</p>","PeriodicalId":74699,"journal":{"name":"Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia","volume":"46 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11075383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141065588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparison of medical image interpretation time between conventional and automated methods of breast ultrasound. 比较传统和自动乳腺超声波方法的医学影像解读时间。
Katyane Larissa Alves, Ruffo Freitas, Régis Resende Paulinelli, Marcus Nascimento Borges
{"title":"Comparison of medical image interpretation time between conventional and automated methods of breast ultrasound.","authors":"Katyane Larissa Alves, Ruffo Freitas, Régis Resende Paulinelli, Marcus Nascimento Borges","doi":"10.61622/rbgo/2024AO15","DOIUrl":"10.61622/rbgo/2024AO15","url":null,"abstract":"<p><strong>Objective: </strong>To compare the medical image interpretation's time between the conventional and automated methods of breast ultrasound in patients with breast lesions. Secondarily, to evaluate the agreement between the two methods and interobservers.</p><p><strong>Methods: </strong>This is a cross-sectional study with prospective data collection. The agreement's degrees were established in relation to the breast lesions's ultrasound descriptors. To determine the accuracy of each method, a biopsy of suspicious lesions was performed, considering the histopathological result as the diagnostic gold standard.</p><p><strong>Results: </strong>We evaluated 27 women. Conventional ultrasound used an average medical time of 10.77 minutes (± 2.55) greater than the average of 7.38 minutes (± 2.06) for automated ultrasound (p<0.001). The degrees of agreement between the methods ranged from 0.75 to 0.95 for researcher 1 and from 0.71 to 0.98 for researcher 2. Among the researchers, the degrees of agreement were between 0.63 and 1 for automated ultrasound and between 0.68 and 1 for conventional ultrasound. The area of the ROC curve for the conventional method was 0.67 (p=0.003) for researcher 1 and 0.72 (p<0.001) for researcher 2. The area of the ROC curve for the automated method was 0. 69 (p=0.001) for researcher 1 and 0.78 (p<0.001) for researcher 2.</p><p><strong>Conclusion: </strong>We observed less time devoted by the physician to automated ultrasound compared to conventional ultrasound, maintaining accuracy. There was substantial or strong to perfect interobserver agreement and substantial or strong to almost perfect agreement between the methods.</p>","PeriodicalId":74699,"journal":{"name":"Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia","volume":"46 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11075416/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Online scientific research on placentophagy: a bibliometric analysis. 关于胎盘吞噬的在线科学研究:文献计量分析。
Paloma Elisama de Oliveira Morais, Melissa Santos Nassif, Andreia Cristina Barbosa Costa, Patrícia Scotini Freitas, Rômulo Severo Sampaio, Isabelle Cristinne Pinto Costa
{"title":"Online scientific research on placentophagy: a bibliometric analysis.","authors":"Paloma Elisama de Oliveira Morais, Melissa Santos Nassif, Andreia Cristina Barbosa Costa, Patrícia Scotini Freitas, Rômulo Severo Sampaio, Isabelle Cristinne Pinto Costa","doi":"10.61622/rbgo/2024AR04","DOIUrl":"10.61622/rbgo/2024AR04","url":null,"abstract":"<p><strong>Objective: </strong>To classify the bibliometric indicators of online scientific research on placentophagy.</p><p><strong>Methods: </strong>A bibliometric study was conducted to quantify the scientific production of authors and institutions with the aim of highlighting the growth and impact of these publications nationally and internationally. The Bradford Law, network maps, and textual statistics were used, with searches conducted in libraries and databases in October 2021.</p><p><strong>Results: </strong>The sample consisted of 64 articles, whose primary authors were associated with 49 institutions, and mostly with degrees in anthropology. The United States of America was the country that published the most papers on the theme, and most studies were reviews with individual production. Through the term analysis, it was found that the predominant themes regarding placentophagy were the following: Alternative therapy for women's health, methodologies used for research in this area, period of placenta ingestion (postpartum period), and its benefits.</p><p><strong>Conclusion: </strong>The bibliometric indicators found are essential for the development of future research.</p>","PeriodicalId":74699,"journal":{"name":"Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia","volume":"46 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11075423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis. 在 3q12.2 上发现罕见的拷贝数多态性增益,其中有家族性子宫内膜异位症的候选基因。
Flávia Gaona Oliveira, Júlio Cesar Rosa-E-Silva, Alexandra Galvão Gomes, Juliana Dourado Grzesiuk, Thiago Vidotto, Jeremy Andrew Squire, Rodrigo Alexandre Panepucci, Juliana Meola, Lúcia Martelli
{"title":"Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis.","authors":"Flávia Gaona Oliveira, Júlio Cesar Rosa-E-Silva, Alexandra Galvão Gomes, Juliana Dourado Grzesiuk, Thiago Vidotto, Jeremy Andrew Squire, Rodrigo Alexandre Panepucci, Juliana Meola, Lúcia Martelli","doi":"10.61622/rbgo/2024CR12","DOIUrl":"10.61622/rbgo/2024CR12","url":null,"abstract":"<p><p>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: <i>ADGRG7</i> and <i>TFG</i>. The CNV gain was validated by qPCR. <i>ADGRG7</i> is located at 3q12.2 and encodes a G protein-coupled receptor influencing the NF-kappaβ pathway. <i>TFG</i> 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.</p>","PeriodicalId":74699,"journal":{"name":"Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia","volume":"46 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11075382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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