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Predictors of single-dose methotrexate treatment success in ectopic pregnancies: A retrospective cohort study 宫外孕单剂量甲氨蝶呤治疗成功的预测因素:回顾性队列研究
IF 0.1 Q4 OBSTETRICS & GYNECOLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.gine.2024.100967
V. Chegini , H. Pakniat , M. Shora , M. Mirzadeh , F. Lalooha , V. Chegini , M.D. Griffiths , Z. Alimoradi

Objective

The present study investigated the predictors of single-dose (50 mg/m2) methotrexate (MTX) treatment success in ectopic pregnancies.

Method

A retrospective cohort study was conducted using information databases from a single academic tertiary care hospital among 396 participants referred for treatment of ectopic pregnancy (EP). Data were collected on age, history of EP, basal level of β-hCG, features of vaginal ultrasound (left or right), mass size, presence of hematoma around the mass and free pelvic fluid, and demand of subsequent doses of MTX or surgery. The patients were divided into success and failure groups based on whether they were treated with a single-dose of methotrexate (single dose MTX), or required subsequent doses of MTX or surgery.

Results

The success rate of single-dose MTX treatment was approximately 74%. The failure chance was significantly higher in right adnexal masses (OR: 3.45), history of EP (OR: 28.19), presence of hematoma on ultrasound (OR: 26.69), and serum β-hCG > 719 mIu/ml (OR: 5.19). A mass size > 19 mm was associated with a 79% increased chance of failure (p = 0.10). These variables accounted for approximately 45–66% of the failure variance for single-dose MTX treatment. Based on ROC curve analysis, initial β-hCG level of 719 mIu/ml was the best cutoff for patients with EP (with a sensitivity of 82% and specificity of 63%).

Conclusion

The treatment outcome of single dose MTX can be successfully predicted based on the previous history of EP, the presence of hematoma on ultrasound, mass location, and measurement of β-hCG levels before treatment.

本研究探讨了单剂量(50 mg/m2)甲氨蝶呤(MTX)治疗异位妊娠成功率的预测因素。方法利用一家学术性三甲医院的信息数据库对转诊治疗异位妊娠(EP)的 396 名参与者进行了回顾性队列研究。研究收集了患者的年龄、异位妊娠病史、β-hCG 基础水平、阴道超声特征(左侧或右侧)、包块大小、包块周围有无血肿和游离盆腔积液、是否需要后续剂量的 MTX 或手术等数据。结果 单剂量 MTX 治疗的成功率约为 74%。右侧附件包块(OR:3.45)、EP病史(OR:28.19)、超声检查有血肿(OR:26.69)、血清β-hCG为719 mIu/ml(OR:5.19)的失败几率明显更高。胎块大小超过 19 毫米与失败几率增加 79% 相关(P = 0.10)。这些变量约占单剂量 MTX 治疗失败方差的 45-66%。根据 ROC 曲线分析,初始 β-hCG 水平为 719 mIu/ml 是 EP 患者的最佳临界值(敏感性为 82%,特异性为 63%)。
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引用次数: 0
Malaria grave en gestante con trombocitopenia severa y afectación placentaria: manejo en zona no endémica. A propósito de un caso 一名患有严重血小板减少症和胎盘受累的孕妇患重症疟疾:非流行区的处理方法。病例报告
IF 0.1 Q4 OBSTETRICS & GYNECOLOGY Pub Date : 2024-06-26 DOI: 10.1016/j.gine.2024.100969
A. Llamazares de la Moral , M.J. Cuerva , J.L. Bartha

Introduction

Malaria presents a significant challenge during pregnancy, even in non-endemic environments like Spain. Pregnant women face severe complications due to placental parasite accumulation, leading to conditions such as severe anemia, miscarriage, intrauterine growth restriction, and perinatal death. In this article, we present a clinical case illustrating the complexities and successful management strategies of malaria during pregnancy in a non-endemic setting.

Major symptoms and clinical findings

A 37-week pregnant woman from Equatorial Guinea presents with fever and hemoptoic sputum. Laboratory analysis reveals severe thrombocytopenia, anemia, and hyperbilirubinemia, prompting suspicion of malaria.

Major diagnoses, therapeutic interventions and outcomes

P. falciparum antigen is detected in the blood, meeting criteria for severe malaria based on clinical and analytical findings. Treatment with intravenous artesunate results in rapid parasitemia reduction. On the second day, the patient enters labor and undergoes a eutocic delivery, giving birth to a healthy baby girl with negative P. falciparum antigen. Parasites are found in the placental intervillous space upon analysis. Postpartum oral therapy with dihydroartemisinin-piperaquine proceeds without incident. Discharge occurs three days later.

Conclusions

Effective management of malaria during pregnancy requires early suspicion, a multidisciplinary approach, and targeted treatment to optimize maternal-fetal outcomes. Vaginal birth at term is recommended to mitigate perinatal complications and promote maternal recovery. Oral dihydroartemisinin-piperaquine therapy emerges as a promising option for postpartum preventive treatment, yielding favorable short- and long-term results.

导言:即使在西班牙等非疟疾流行的环境中,疟疾也给孕妇带来了巨大的挑战。由于胎盘寄生虫积聚,孕妇会面临严重的并发症,导致严重贫血、流产、胎儿宫内生长受限和围产期死亡。在本文中,我们将介绍一个临床病例,说明在非疟疾流行地区妊娠期疟疾的复杂性和成功的治疗策略。血液中检测到恶性疟原虫抗原,根据临床和分析结果,符合重症疟疾的标准。静脉注射青蒿琥酯可迅速降低寄生虫血症。第二天,患者进入产程并顺产,产下一名健康女婴,恶性疟原虫抗原呈阴性。经分析,在胎盘绒毛间隙中发现了寄生虫。产后口服双氢青蒿素-哌喹治疗顺利进行,三天后出院。结论孕期疟疾的有效治疗需要早期怀疑、多学科协作和有针对性的治疗,以优化母胎结局。建议在足月时进行阴道分娩,以减少围产期并发症,促进产妇恢复。口服双氢青蒿素-哌喹疗法是产后预防性治疗的理想选择,可产生良好的短期和长期效果。
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引用次数: 0
Descripción de un caso. Duplicación del cromosoma 1q: diagnóstico prenatal, manifestaciones ecográficas y pronóstico perinatal 病例报告。染色体 1q 重复:产前诊断、超声波检查结果和围产期预后。
IF 0.1 Q4 Medicine Pub Date : 2024-06-22 DOI: 10.1016/j.gine.2024.100968
M.C. Restrepo-Guarnizo , I. Dávila Neri , R.L. Aragón Mendoza

Introduction

Mosaicism due to duplication of chromosome 1q is recognized as a cytogenetic anomaly, characterized by low frequency and few cases reported in the literature.

Clinical findings

In this case, we present a primigravida patient at 24 weeks of pregnancy, with a fetus displaying abnormal ultrasound findings. These include ventriculomegaly, micrognathia, hypotelorism, and associated diaphragmatic hernia.

Primary diagnoses

Amniocentesis was performed, and karyotype analysis revealed a prenatal diagnosis of mos 46,XY,dup(1)(q23q44)[19]/46,XY[41] mosaicism. Subsequently, the patient experienced preterm delivery with early perinatal demise.

Therapeutic interventions and outcomes

Due to the lack of evidence regarding fetal therapy and the prenatal diagnosis of this condition, postnatal assessment was awaited for appropriate therapeutic management. Subsequently, the patient had preterm delivery with early perinatal death.

Conclusion

Heterogeneity of findings is observed to depend on the size and location of the chromosomal alteration, and factors such as the concurrent development of diaphragmatic hernia are associated with a poorer prognosis and higher rates of mortality due to the degree of pulmonary hypoplasia.

导言1q染色体重复导致的马赛克现象是公认的细胞遗传学异常,其特点是发生率低,文献报道的病例很少。初步诊断进行了羊膜腔穿刺,核型分析显示产前诊断为镶嵌型 46,XY,dup(1)(q23q44)[19]/46,XY[41]。治疗干预和结果由于缺乏有关胎儿治疗和产前诊断的证据,患者需要等待产后评估以采取适当的治疗措施。随后,患者出现早产,并在围产期早期死亡。结论观察到的结果异质性取决于染色体改变的大小和位置,而同时出现膈疝等因素与较差的预后和较高的死亡率有关,这与肺发育不全的程度有关。
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引用次数: 0
Preservación de la fertilidad en el paciente pediátrico y adolescente con cáncer 保护儿童和青少年癌症患者的生育能力
IF 0.1 Q4 Medicine Pub Date : 2024-05-18 DOI: 10.1016/j.gine.2024.100966
M. Andrés Moreno , H. Martínez Sánchez , F. Moreno Macián

The significant increase in pediatric and adolescent cancer survivors in the last few decades, has highlighted on options to minimize long-term side effects related to treatment. Fertility preservation alternatives in girls after a cancer diagnosis are moving from being considered experimental to becoming an increasingly widespread healthcare practice. On the other hand, the real possibilities in prepubertal boys still have a longer way to improve. Since these are minor and especially vulnerable patients, multidisciplinary work is essential, with homogeneous criteria in patient selection and application of techniques. The following publication summarizes the state of the art on this subject, emphasizing the differentiating features in relation to the adult population.

在过去的几十年里,儿童和青少年癌症幸存者人数大幅增加,这凸显了如何最大限度地减少与治疗相关的长期副作用。女孩在确诊癌症后的生育力保留方案正从试验性方案逐步成为一种日益普遍的医疗保健做法。另一方面,对于青春期前的男孩来说,真正的可能性还有很长的路要走。由于这些都是未成年且特别脆弱的患者,因此必须开展多学科工作,在患者选择和技术应用方面制定统一标准。以下刊物总结了这方面的最新进展,并强调了与成人相比的不同特点。
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引用次数: 0
Sexual self-concept and intimacy in context of vaginismus: A case–control study 阴道炎背景下的性自我概念和亲密关系:病例对照研究
IF 0.1 Q4 Medicine Pub Date : 2024-05-15 DOI: 10.1016/j.gine.2024.100965
M. Banaei , F. Alidost , H. Shahrahmani , F. Yazdani , Z. Sepehri , N. Kariman

Background

As sexuality and its related issues are significantly associated with sociocultural settings, addressing the sexual health status of individuals in different societies is of the utmost importance. Women with vaginismus have more stress, anxiety, depression, and they also feel hopeless and have low self-esteem. And this problem can disturb intimacy between couples and women's sexual self-concept. Therefore, the present study was to determine and compare sexual self-concept and intimacy in women presenting with and without vaginismus.

Methods

This case–control study was conducted in 2021–2022 on 240 women with and without vaginismus, referring to selected sexual health clinics based in Iran. The data collection tools recruited were the demographic characteristics’ information, the Multidimensional Sexual Self-Concept Questionnaire, and the Sexual Intimacy Scale. To calculate the odds ratio of the studied variables, the logistic regression analysis using the SPSS Statistics software (ver. 25) was also employed.

Results

The mean age of women with and without vaginismus was 27.85 ± 4.62 and 28.51 ± 4.34, respectively. According to the regression results, the variables of sexual intimacy (odds ratio (OR) = 0.864, P < 0.001), sexual awareness (OR = 6.090, P = 0.003), sexual-anxiety (OR = 1.613, P < 0.001), fear of sex (OR = 1.338, P = 0.021) and sexual problem prevention (OR = 0.765, P = 0.016) were significantly associated with vaginismus.

Conclusions

According to these results, sexual intimacy, sexual awareness, sexual-anxiety, fear of sex and sexual problem prevention were significantly associated with vaginismus. Therefore, it is suggested that for the treatment of women with vaginismus, interventions can be designed to improve sexual intimacy, sexual knowledge and positive sexual self-concept and reduce sexual anxiety.

背景由于性及其相关问题与社会文化背景密切相关,解决不同社会中个人的性健康问题至关重要。患有阴道炎的女性会有更多的压力、焦虑和抑郁,她们也会感到绝望和自卑。这个问题会影响夫妻间的亲密关系和女性的性自我概念。因此,本研究旨在确定并比较患有和未患有阴道炎的女性的性自我概念和亲密关系。方法本病例对照研究于 2021-2022 年进行,研究对象是在伊朗选定的性健康诊所就诊的 240 名患有和未患有阴道炎的女性。数据收集工具包括人口统计学特征信息、多维性自我概念问卷和性亲密感量表。为了计算所研究变量的几率比例,研究人员还使用 SPSS 统计软件(25 版)进行了逻辑回归分析。结果患有和未患有阴道炎的妇女的平均年龄分别为(27.85±4.62)岁和(28.51±4.34)岁。回归结果显示,性亲密程度(几率比(OR)= 0.864,P = 0.001)、性意识(OR = 6.090,P = 0.003)、性焦虑(OR = 1.613,P = 0.001)、性恐惧(OR = 1.338,P = 0.021)和性问题预防(OR = 0.结论根据上述结果,性亲密、性意识、性焦虑、性恐惧和性问题预防与阴道炎显著相关。因此,建议在治疗患有阴道炎的妇女时,可以设计干预措施来改善性亲密关系、性知识和积极的性自我概念,并减少性焦虑。
{"title":"Sexual self-concept and intimacy in context of vaginismus: A case–control study","authors":"M. Banaei ,&nbsp;F. Alidost ,&nbsp;H. Shahrahmani ,&nbsp;F. Yazdani ,&nbsp;Z. Sepehri ,&nbsp;N. Kariman","doi":"10.1016/j.gine.2024.100965","DOIUrl":"https://doi.org/10.1016/j.gine.2024.100965","url":null,"abstract":"<div><h3>Background</h3><p>As sexuality and its related issues are significantly associated with sociocultural settings, addressing the sexual health status of individuals in different societies is of the utmost importance. Women with vaginismus have more stress, anxiety, depression, and they also feel hopeless and have low self-esteem. And this problem can disturb intimacy between couples and women's sexual self-concept. Therefore, the present study was to determine and compare sexual self-concept and intimacy in women presenting with and without vaginismus.</p></div><div><h3>Methods</h3><p>This case–control study was conducted in 2021–2022 on 240 women with and without vaginismus, referring to selected sexual health clinics based in Iran. The data collection tools recruited were the demographic characteristics’ information, the Multidimensional Sexual Self-Concept Questionnaire, and the Sexual Intimacy Scale. To calculate the odds ratio of the studied variables, the logistic regression analysis using the SPSS Statistics software (ver. 25) was also employed.</p></div><div><h3>Results</h3><p>The mean age of women with and without vaginismus was 27.85<!--> <!-->±<!--> <!-->4.62 and 28.51<!--> <!-->±<!--> <!-->4.34, respectively. According to the regression results, the variables of sexual intimacy (odds ratio (OR)<!--> <!-->=<!--> <!-->0.864, <em>P</em> <!-->&lt;<!--> <!-->0.001), sexual awareness (OR<!--> <!-->=<!--> <!-->6.090, <em>P</em> <!-->=<!--> <!-->0.003), sexual-anxiety (OR<!--> <!-->=<!--> <!-->1.613, <em>P</em> <!-->&lt;<!--> <!-->0.001), fear of sex (OR<!--> <!-->=<!--> <!-->1.338, <em>P</em> <!-->=<!--> <!-->0.021) and sexual problem prevention (OR<!--> <!-->=<!--> <!-->0.765, <em>P</em> <!-->=<!--> <!-->0.016) were significantly associated with vaginismus.</p></div><div><h3>Conclusions</h3><p>According to these results, sexual intimacy, sexual awareness, sexual-anxiety, fear of sex and sexual problem prevention were significantly associated with vaginismus. Therefore, it is suggested that for the treatment of women with vaginismus, interventions can be designed to improve sexual intimacy, sexual knowledge and positive sexual self-concept and reduce sexual anxiety.</p></div>","PeriodicalId":41294,"journal":{"name":"Clinica e Investigacion en Ginecologia y Obstetricia","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140947760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Uterine leiomyoma in adolescents: A case report and a review of the literature 青少年子宫肌瘤:病例报告和文献综述
IF 0.1 Q4 Medicine Pub Date : 2024-04-01 DOI: 10.1016/j.gine.2024.100957
M. Derme , M. Briante , G. Masselli

Introduction

Fibroids are common benign gynecological tumors but a rare finding in adolescents. Although infrequent, some symptomatic cases have been described in literature.

Main symptoms and/or clinical findings

A 16-year-old Caucasian patient came to our attention for abdominal pain and dysmenorrhea appeared two months before. Her gynecological history was characterized by regular menstrual cycles, normal in quantity, with dysmenorrhea. Bimanual pelvic examination revealed an anteverted mobile uterus, no adnexal tenderness or masses. Speculum examination showed a normal cervix. No vaginal bleeding or discharge was observed during the visit.

Main diagnoses

Transabdominal/transvaginal ultrasound demonstrated an anteverted uterus of 71 mm × 44 × 48 mm, with a heterogeneous myometrial structure and a hypoechoic subserosal-intramural mass (FIGO leiomyoma subclassification system: O-4) localized in the posterior uterine wall, measuring 26 mm × 19 mm × 16 mm, slightly vascularized at the Color-Doppler (Color Score 2). Magnetic resonance imaging confirmed the ultrasound diagnosis.

Therapeutic interventions and outcomes

Considering pelvic mass dimension and the patient age, a “wait and see” approach was chosen and the patient was re-evaluated a month and three months after the first ultrasound. The second and the third transvaginal ultrasound exam showed an unchanged picture.

Conclusion

The management of leiomyoma in young patients should be targeted to dimension and symptoms of the mass. When facing myomas of small dimension, paucisymptomatic or asymptomatic, with no signs of malignity, we suggest an expectant management.

导言纤维瘤是常见的妇科良性肿瘤,但在青少年中却很少见。主要症状和/或临床发现一名 16 岁的白种人患者因腹痛和两个月前出现的痛经前来就诊。她的妇科病史特点是月经周期规律,经量正常,但伴有痛经。双侧盆腔检查显示子宫前倾,无附件压痛或肿块。窥器检查显示宫颈正常。主要诊断经腹/经阴道超声检查显示子宫前倾,大小为 71 mm × 44 mm × 48 mm,子宫肌层结构不均质,子宫后壁局部有一低回声的浆膜下-肌壁内肿块(FIGO Leiomyoma 亚分类系统:O-4),大小为 26 mm × 19 mm × 16 mm,彩色多普勒显示略有血管扩张(彩色评分 2)。考虑到盆腔肿块的尺寸和患者的年龄,医生选择了 "静观其变 "的方法,并在第一次超声检查后一个月和三个月对患者进行了重新评估。第二次和第三次经阴道超声检查结果显示没有变化。结论年轻患者的子宫肌瘤治疗应针对肿块的大小和症状。面对体积小、无症状或症状不明显、无恶性迹象的肌瘤,我们建议采取期待疗法。
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引用次数: 0
Consenso multidisciplinar de mastitis granulomatosa: algoritmo diagnóstico y terapéutico 肉芽肿性乳腺炎多学科共识:诊断和治疗算法
IF 0.1 Q4 Medicine Pub Date : 2024-03-27 DOI: 10.1016/j.gine.2024.100954
L. López-Vendrell , L. Blay , P. Rodriguez , I. Pascual , M.Á. Luna , C. Rios , A. Mariscal , A. Olivé , J.F. Julian , I. Casafont

Idiopathic granulomatous mastitis (IGM) is a benign chronic inflammatory disease affecting the breast stroma. Diagnosis is by exclusion and requires histopathological confirmation, as its clinical and radiological presentation may be similar to breast carcinoma. Treatment is mainly medical, complemented by percutaneous drainage and ultimately surgical.

Although it is a benign pathology, it can cause significant impairment of quality of life. Due to its nature, it requires a multidisciplinary approach. It is necessary to protocolise the management of this entity both to establish the diagnosis and to initiate appropriate treatment early and prevent progression to advanced stages.

The aim of this work is to standardise the diagnosis and treatment of IGM from a multidisciplinary approach following medical consensus. The diagnostic algorithm is described, considering risk factors for IGM, typical radiological signs in order to be able to detect suspected cases early and subsequently ensure early treatment, which is described in the following algorithm for treatment. We also describe a specific follow-up circuit.

These multidisciplinary diagnostic-therapeutic algorithms are proposed to raise awareness and standardise the approach to this rare disease, accelerating its diagnosis and optimising its treatment.

特发性肉芽肿性乳腺炎(IGM)是一种影响乳腺基质的良性慢性炎症性疾病。由于其临床表现和放射学表现可能与乳腺癌相似,因此需要组织病理学证实才能排除诊断。治疗方法主要是药物治疗,辅以经皮引流术,最终采用手术治疗。虽然这是一种良性病变,但会严重影响患者的生活质量。虽然它是一种良性病变,但会严重影响患者的生活质量。这项工作的目的是根据医学共识,从多学科角度规范 IGM 的诊断和治疗。本文介绍了诊断算法,考虑了 IGM 的危险因素和典型的放射学征象,以便能够及早发现疑似病例并确保及早治疗。我们提出这些多学科诊断治疗算法的目的是为了提高人们对这种罕见疾病的认识,并使其治疗方法标准化,从而加快诊断和优化治疗。
{"title":"Consenso multidisciplinar de mastitis granulomatosa: algoritmo diagnóstico y terapéutico","authors":"L. López-Vendrell ,&nbsp;L. Blay ,&nbsp;P. Rodriguez ,&nbsp;I. Pascual ,&nbsp;M.Á. Luna ,&nbsp;C. Rios ,&nbsp;A. Mariscal ,&nbsp;A. Olivé ,&nbsp;J.F. Julian ,&nbsp;I. Casafont","doi":"10.1016/j.gine.2024.100954","DOIUrl":"https://doi.org/10.1016/j.gine.2024.100954","url":null,"abstract":"<div><p>Idiopathic granulomatous mastitis (IGM) is a benign chronic inflammatory disease affecting the breast stroma. Diagnosis is by exclusion and requires histopathological confirmation, as its clinical and radiological presentation may be similar to breast carcinoma. Treatment is mainly medical, complemented by percutaneous drainage and ultimately surgical.</p><p>Although it is a benign pathology, it can cause significant impairment of quality of life. Due to its nature, it requires a multidisciplinary approach. It is necessary to protocolise the management of this entity both to establish the diagnosis and to initiate appropriate treatment early and prevent progression to advanced stages.</p><p>The aim of this work is to standardise the diagnosis and treatment of IGM from a multidisciplinary approach following medical consensus. The diagnostic algorithm is described, considering risk factors for IGM, typical radiological signs in order to be able to detect suspected cases early and subsequently ensure early treatment, which is described in the following algorithm for treatment. We also describe a specific follow-up circuit.</p><p>These multidisciplinary diagnostic-therapeutic algorithms are proposed to raise awareness and standardise the approach to this rare disease, accelerating its diagnosis and optimising its treatment.</p></div>","PeriodicalId":41294,"journal":{"name":"Clinica e Investigacion en Ginecologia y Obstetricia","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2024-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140296224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Manejo reproductivo de las mujeres con la premutación del FMR1. Revisión de la literatura FMR1 预突变妇女的生殖管理:文献综述。
IF 0.1 Q4 Medicine Pub Date : 2024-03-27 DOI: 10.1016/j.gine.2024.100955
I. Agustí , A. Borrás , L. Rodriguez-Revenga , D. Manau

ertility preservation is indicated in most cases of oncologic diseases and when gonadotoxic treatments are prescribed. However, in recent years, there has been an increase in preservation cycles carried out for benign diseases and conditions with a risk of developing premature ovarian failure. Premature ovarian insufficiency is related to a genetic disorder in 10% of cases. The most common known conditions are FMR1 premutation and Turner syndrome, and recently, other diseases such as mutations in the BRCA 1/2 genes have been implicated in this pathology.

We conducted a bibliographic review on premature ovarian insufficiency associated with the premutation of the FMR1 gene or Fragile X Messenger Ribonucleoprotein 1, the various pathophysiological theories described, and the difficulty in predicting which women will develop ovarian failure due to the lack of a useful predictive marker. Additionally, we evaluated different recommendations for managing these women and when to indicate the implementation of fertility preservation techniques. This option could prevent the psychological impact women of these women's reproductive health impairment.

大多数肿瘤性疾病和接受性腺毒性治疗时,都需要保留生育能力。然而,近年来,因良性疾病和有卵巢早衰风险的病症而进行的保留生育周期的情况有所增加。10%的卵巢早衰病例与遗传疾病有关。我们对与 FMR1 基因或脆性 X 信使核糖核蛋白 1 预突变相关的卵巢早衰、各种病理生理学理论以及由于缺乏有用的预测标志物而难以预测哪些妇女会发生卵巢功能衰竭等问题进行了文献综述。此外,我们还评估了管理这些妇女的不同建议,以及何时建议实施生育力保存技术。这种方法可以避免这些妇女因生殖健康受损而受到心理影响。
{"title":"Manejo reproductivo de las mujeres con la premutación del FMR1. Revisión de la literatura","authors":"I. Agustí ,&nbsp;A. Borrás ,&nbsp;L. Rodriguez-Revenga ,&nbsp;D. Manau","doi":"10.1016/j.gine.2024.100955","DOIUrl":"https://doi.org/10.1016/j.gine.2024.100955","url":null,"abstract":"<div><p>ertility preservation is indicated in most cases of oncologic diseases and when gonadotoxic treatments are prescribed. However, in recent years, there has been an increase in preservation cycles carried out for benign diseases and conditions with a risk of developing premature ovarian failure. Premature ovarian insufficiency is related to a genetic disorder in 10% of cases. The most common known conditions are <em>FMR1</em> premutation and Turner syndrome, and recently, other diseases such as mutations in the <em>BRCA 1/2</em> genes have been implicated in this pathology.</p><p>We conducted a bibliographic review on premature ovarian insufficiency associated with the premutation of the <em>FMR1</em> gene or <em>Fragile</em> X <em>Messenger Ribonucleoprotein 1</em>, the various pathophysiological theories described, and the difficulty in predicting which women will develop ovarian failure due to the lack of a useful predictive marker. Additionally, we evaluated different recommendations for managing these women and when to indicate the implementation of fertility preservation techniques. This option could prevent the psychological impact women of these women's reproductive health impairment.</p></div>","PeriodicalId":41294,"journal":{"name":"Clinica e Investigacion en Ginecologia y Obstetricia","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2024-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140296225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Terapias innovadoras en pacientes con baja reserva ovárica e insuficiencia ovárica primaria 卵巢储备功能低下和原发性卵巢功能不全患者的创新疗法
IF 0.1 Q4 Medicine Pub Date : 2024-03-26 DOI: 10.1016/j.gine.2024.100956
M. Méndez , J. Ferreri , L. Abelló , F. Fàbregues

Premature or primary ovarian insufficiency (POI) is characterized by the loss of ovarian function in women under 40 years of age, with a prevalence of 1% of the female population. Women with POI face subfertility and premature symptoms associated with menopause. Currently, reproductive options for these patients are limited, primarily relying on oocyte donation. However, recent advances in the knowledge of the initial phases of folliculogenesis have allowed the proposal of new therapeutic strategies to try to restore ovarian function in these patients. In this paper, the physiological background, preliminary results on POI and DOR (decreased ovarian reserve) patients, as well as future challenges associated with these innovative treatments are addressed. The ovarian reactivation strategies analyzed in this review include surgical procedures (IVA and Drug-Free IVA), the infusion of growth factors from activated platelets (Platelet-Rich Plasma) or the use of stem cells and factors released by them (Stem Cell-Based Therapy), and the use of mitochondrial transfer therapies.

早衰或原发性卵巢功能不全(POI)是指 40 岁以下女性卵巢功能丧失,发病率占女性人口的 1%。患有原发性卵巢功能不全的女性面临着不孕症和与更年期相关的过早症状。目前,这些患者的生育选择有限,主要依靠卵细胞捐赠。然而,近年来人们对卵泡生成初始阶段的认识不断进步,从而提出了新的治疗策略,试图恢复这些患者的卵巢功能。本文探讨了这些创新疗法的生理背景、对 POI 和 DOR(卵巢储备功能下降)患者的初步结果以及未来面临的挑战。本综述分析的卵巢再激活策略包括外科手术(体外受精和无药物体外受精)、注入活化血小板的生长因子(富血小板血浆)或使用干细胞及其释放的因子(干细胞疗法),以及使用线粒体转移疗法。
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引用次数: 0
¿Cuál es el manejo óptimo de la leiomiomatosis peritoneal diseminada? Un caso clínico con 15 años de seguimiento sin malignización 播散性腹膜黏液瘤病的最佳治疗方法是什么?随访 15 年未发现恶性肿瘤的病例报告。
IF 0.1 Q4 Medicine Pub Date : 2024-03-16 DOI: 10.1016/j.gine.2024.100952
A. de Labaig Revert, V.M. Patiño Maraver, M.M. Muñoz Díaz

Introduction

Disseminated peritoneal leiomyomatosis (DPL) is a benign pathology, defined by the presence of multiple disseminated nodules in the peritoneum of different sizes composed of bundles of smooth muscle cells. Several theories are postulated about its origin related to hormonal stimulus, genetic susceptibility and iatrogenesis after surgeries such as laparocopic myomectomies.

Clinical findings

Patients usually present with abdominal discomfort of various kinds, and it may even be asymptomatic, being an incidental finding on imaging tests.

Main diagnoses

The differential diagnosis usually includes carcinomatosis, endometriosis, endosalpingiosis, tumours of the gastrointestinal tract or leiomyosarcoma.

Therapeutic interventions

There is insufficient evidence about the best approach, with some advocating expectant management or medical treatment and others advocating more radical surgical management. Among medical treatments, one of the most widely used are GnRH agonists, aromatase inhibitors and selective progesterone receptor modulators such as ulipristal acetate have also been used with good results.

Results

In this case we present a patient with LPD with 15 years of follow-up in our hospital, with no evidence of malignancy.

Conclusion

Knowing the generally benign nature of this disease, it is necessary to opt for the least invasive approach possible. The long-term evolution of this disease is unknown, as most published cases do not have sufficient follow-up time.

导言播散性腹膜黏液瘤病(DPL)是一种良性病变,表现为腹膜上出现由平滑肌细胞束组成的多个大小不等的播散性结节。关于它的起源,有几种理论认为与激素刺激、遗传易感性和腹腔镜子宫肌瘤切除术等手术后的先天性因素有关。主要诊断鉴别诊断通常包括癌瘤病、子宫内膜异位症、子宫内膜异位症、胃肠道肿瘤或子宫肌瘤。治疗干预关于最佳方法的证据不足,有些人主张期待疗法或药物治疗,有些人则主张更彻底的手术治疗。在药物治疗中,应用最广泛的是 GnRH 促效剂,芳香化酶抑制剂和选择性孕激素受体调节剂(如醋酸乌利司他片)也有良好的疗效。结果在本病例中,我们介绍了一名在我院随访 15 年的 LPD 患者,无恶性证据。由于大多数发表的病例没有足够的随访时间,因此这种疾病的长期演变情况尚不清楚。
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引用次数: 0
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Clinica e Investigacion en Ginecologia y Obstetricia
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