Genital tuberculosis role in female infertility in Portugal.

INTRODUCTION: Genitourinary tuberculosis is the fourth most common cause of extrapulmonary tuberculosis, although often underestimated by clinicians due to its rare and non-specific symptoms. One of the disease's complications is infertility. Although Portugal is one of the European countries with the highest prevalence of tuberculosis, its impact on Portuguese female fertility is unknown. With this study, we intend to evaluate the prevalence of genital tuberculosis, its presenting symptoms, and pregnancy outcomes in infertile women followed in a Portuguese tertiary hospital. METHODS: Retrospective and descriptive study, performed using an electronic database and consultation of clinical files. Studied population: infertile women followed from 2000 until 2019 at the reproductive unit of a Portuguese tertiary hospital, who underwent endometrial biopsy/curettage in the context of their etiological investigation. The diagnosis of genital tuberculosis was based on histological criteria. RESULTS: Over the 19 years, 2653 endometrial specimens were analyzed. Pathological evaluation was positive for tuberculosis in 19 cases (0.72%). There was a decrease in new diagnoses throughout the observation period. CONCLUSION: Despite being one of the European countries with the highest prevalence of tuberculosis, genital TB does not appear to have a significant impact on the etiology of female infertility in Portugal. Nevertheless, it is a diagnosis to be considered in selected patients.

Successful Treatment of Endometriosis-Related Hemorrhagic Ascites: A Report of Three Cases.

Endometriosis-related ascites is rare and is frequently confused with an ovarian malignancy. Since it affects women in reproductive age, its diagnosis and therapy are even more challenging. These patients usually present with abdominal distension, pelvic pain, and weight loss, but a careful questioning usually reveals the typical endometriosis symptoms-such as dysmenorrhea and dyspareunia. We present three cases of endometriosis-related ascites, one of them with pleural effusion. All cases were associated with extensive disease and required laborious laparoscopic surgery, medical therapy with gonadotropin releasing hormone analogs, and long-term follow-up. One of the patients delivered twins following an in vitro fertilization (IVF) cycle without recurrence of ascites. We aim to raise awareness toward the importance of considering endometriosis in a patient with ascites of unknown origin.

Laparoscopic Neurolysis of Deep Endometriosis Infiltrating Left Femoral Nerve: Case Report.

Pelvic endometriosis may infiltrate somatic nerves causing severe neuropathic symptoms with a high impact on quality of life. It is a medical condition poorly known, and few published data about involvement of femoral nerve are available. We report an isolated unilateral endometriosis lesion of the left lumbar region infiltrating the femoral nerve in a 38-year-old woman. She described severe dysmenorrhea, dyspareunia, dischezia, and chronic pelvic pain with irradiation to the anterior part of the left thigh. After investigation, it was identified as a 5-centimeter endometriotic nodule involving the femoral nerve and the psoas muscle. The patient was treated by two laparoscopic surgeries with neurolysis of the involved somatic nerve by a multidisciplinary team, with improvement of the symptoms. Laparoscopic neurolysis is the first approach advocated in these cases, leading to relief of neurological symptoms resulting from nerve infiltration by endometriosis.

Laparoscopic re-anastomosis of a uterine avulsion following cold-knife conization.

This report presents an exceptional case of uterine avulsion following a cold-knife conization, an unprecedented surgical complication of a common gynecological procedure. Furthermore, it describes the outcomes of the conservative laparoscopic reconstruction that was performed. A 30-year-old nulliparous was referred to our department with secondary amenorrhea and cyclic pelvic pain following a cold-knife conization performed 9 months previous in another institution. The patient underwent a diagnostic laparoscopy, which confirmed that the cervix had been completely resected and that the uterine and vaginal cavities were no longer in contact. We performed an end-to-end utero-vaginal anastomosis followed by a prophylactic cerclage. No intraoperative or postoperative complications were observed. One month after surgery the patient was asymptomatic with normal withdrawal bleeding and remained asymptomatic during her 12-month follow-up consult. To our knowledge, this is the first time that this serious complication with a potential for irreversible damage to reproductive function is reported as a complication of cervical conization. Although our conservative surgical correction repaired the anatomy and reestablished menstruation outflow, further follow-up is necessary to confirm the extent to which reproductive function was restored.

EuMAR: a roadmap towards a prospective, cycle-by-cycle registry of medically assisted reproduction in Europe.

More than 20 years ago, the survey of activities in medically assisted reproduction (MAR) was initiated in Europe and resulted in cross-sectional annual reports, as issued by the European IVF Monitoring (EIM) consortium of ESHRE. Over time, these reports mirror the continuous development of the technologies and contribute to increased transparency and surveillance of reproductive care. Meanwhile, progressive changes of existing treatment modalities and the introduction of new technologies resulted in the need of a cumulative approach in the assessment of treatment outcomes, which warrants a prospective cycle-by-cycle data registry on MAR activities, including fertility preservation. This change in the paradigm of data collection in Europe towards the construction of cumulative outcome results is expected to generate additional insights into cross-institutional but also cross-border movements of patients and reproductive material. This is essential to improve vigilance and surveillance. The European monitoring of Medically Assisted Reproduction (EuMAR) project, co-funded by the European Union, will establish a registry for the transnational collection of prospective cycle-by-cycle MAR and fertility preservation data on the basis of an individual reproductive care code (IRCC). The rationale for the project and the objectives are presented here.

Good practice recommendations for information provision for those involved in reproductive donation†.

STUDY QUESTION: What information and support should be offered to donors, intended parents and donor-conceived people, in general and in consideration of the availability of direct-to-consumer genetic testing and matching services? SUMMARY ANSWER: For donors, intended parents and donor-conceived offspring, recommendations are made that cover information needs and informed consent, psychosocial implications and disclosure. WHAT IS KNOWN ALREADY: Trends indicate that the use of donor-assisted conception is growing and guidance is needed to help these recipients/intended parents, the donors and offspring, navigate the rapidly changing environment in which donor-assisted conception takes place. STUDY DESIGN SIZE DURATION: A working group (WG) collaborated on writing recommendations based, where available, on evidence collected from a literature search and expert opinion. Draft recommendations were published for stakeholder review and adapted where relevant based on the comments received. PARTICIPANTS/MATERIALS SETTING METHODS: Papers retrieved from PUBMED were included from 1 January 2014 up to 31 August 2020, focusing on studies published since direct-to-consumer genetic testing has become more widespread and accessible. The current paper is limited to reproductive donation performed in medically assisted reproduction (MAR) centres (and gamete banks): donation outside the medical context was not considered. MAIN RESULTS AND THE ROLE OF CHANCE: In total, 32 recommendations were made for information provision and support to donors, 32 for intended parents and 27 for donor-conceived offspring requesting information/support. LIMITATIONS REASONS FOR CAUTION: The available evidence in the area of reproductive donation is limited and diverse with regards to the context and types of donation. General conclusions and recommendations are largely based on expert opinion and may need to be adapted in light of future research. WIDER IMPLICATIONS OF THE FINDINGS: These recommendations provide guidance to MAR centres and gamete banks on good practice in information provision and support but should also be considered by regulatory bodies and policymakers at a national and international level to guide regulatory and legislative efforts towards the protection of donors and donor-conceived offspring. STUDY FUNDING/COMPETING INTERESTS: The development of this good practice paper was funded by European Society of Human Reproduction and Embryology (ESHRE), covering expenses associated with the WG meetings, the literature searches and dissemination. The WG members did not receive any payment. The authors have no conflicts of interest to declare. DISCLAIMER: This document represents the views of ESHRE, which are the result of consensus between the relevant ESHRE stakeholders and where relevant based on the scientific evidence available at the time of preparation. The recommendations should be used for informational and educational purposes. They should not be interpreted as setting a standard of care, or be deemed inclusive of all proper methods of care nor exclusive of other methods of care reasonably directed to obtaining the same results. They do not replace the need for application of clinical judgement to each individual presentation, nor variations based on locality and facility type. †ESHRE pages content is not externally peer reviewed. The manuscript has been approved by the Executive Committee of ESHRE.

Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility.

We conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, namely the MHC class II gene HLA-DRB1 (rs1136759, P = 1.32E-08, OR = 1.80) and an upstream locus of VRK1 (rs115054029, P = 4.24E-08, OR = 3.14), which encodes a protein kinase involved in the regulation of spermatogenesis. The SCO-associated rs1136759 allele (G) determines a serine in the position 13 of the HLA-DRß1 molecule located in the antigen-binding pocket. Overall, our data support the notion of unexplained SPGF as a complex trait influenced by common variation in the genome, with the SCO phenotype likely representing an immune-mediated condition.

Cervical Mesonephric Adenocarcinoma: A Case Report of a Rare Gynecological Tumor from Embryological Remains of the Female Genital Tract.

INTRODUCTION: Malignant mesonephric tumors are uncommon in the female genital tract, and they are usually located where embryonic remnants of Wolffian ducts are detected, such as the uterine cervix. The information about these tumors, their treatment protocol, and prognosis are scarce. CASE REPORT: A 60-year-old woman with postmenopausal vaginal bleeding was initially diagnosed with endometrial carcinoma. After suspicion co-testing, the patient underwent a loop electrosurgical excision of the cervix and was eventually diagnosed with mesonephric adenocarcinoma. She was subjected to a radical hysterectomy, which revealed International Federation of Gynecology and Obstetrics (FIGO) IB1 stage, and adjuvant radiotherapy. The follow-up showed no evidence of recurrence after 60 months. CONCLUSION: We present the case of a woman with cervical mesonephric adenocarcinoma. When compared with the literature, this case had the longest clinical follow-up without evidence of recurrence, which reinforces the concept that these tumors are associated with a favorable prognosis if managed according to the guidelines defined for the treatment of patients with cervical adenocarcinomas. Though a rare entity, it should be kept in mind as a differential diagnosis for other cervical cancers.

Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm.

BACKGROUND: Successful gametogenesis requires the establishment of an appropriate epigenetic state in developing germ cells. Nevertheless, an association between abnormal spermatogenesis and epigenetic disturbances in germline-specific genes remains to be demonstrated. METHODS: In this study, the DNA methylation pattern of the promoter CpG island (CGI) of two germline regulator genes--DAZL and DAZ, was characterized by bisulphite genomic sequencing in quality-fractioned ejaculated sperm populations from normozoospermic (NZ) and oligoasthenoteratozoospermic (OAT) men. RESULTS: OAT patients display increased methylation defects in the DAZL promoter CGI when compared with NZ controls. Such differences are recorded when analyzing sperm fractions enriched either in normal or defective germ cells (P< 0.001 in both cases). Significant differences in DNA methylation profiles are also observable when comparing the qualitatively distinct germ cell fractions inside the NZ and OAT groups (P= 0.003 and P= 0.007, respectively). Contrastingly, the unmethylation pattern of the DAZ promoter CGI remains correctly established in all experimental groups. CONCLUSIONS: An association between disrupted DNA methylation of a key spermatogenesis gene and abnormal human sperm is described here for the first time. These results suggest that incorrect epigenetic marks in germline genes may be correlated with male gametogenic defects.

Isolated Non-16/18 High-Risk Human Papillomavirus Cervical Infection: Re-Evaluation After One Year.

INTRODUCTION: High-risk human papillomavirus cervical infection is currently a well-established cause of cervical cancer. However, only a few women with persistent infections will develop cervical precancerous and malignant lesions. Approximately 20% of all cervical cancers are attributable to non-16/18 serotypes. This study aims to evaluate the results of our clinical approach to women with this infection. MATERIAL AND METHODS: We conducted an observational and prospective study from September 2012 to September 2017, which included women with isolated non-16/18 high-risk human papillomavirus infection (with normal cytology). After re-evaluation, two groups were compared: women with spontaneous regression of the infection and women with persistent infection. Clinical and demographic data were analysed as well as the rate of progression to precancerous and malignant lesions. RESULTS: We included 165 women, of which 121 were re-evaluated with co-test at least one year later. After re-evaluation, 13.2% of women revealed precancerous lesions but only two (1.7%) of them presented high-grade squamous intraepithelial lesions. Sixty-seven women (55.4%) showed spontaneous regression of the infection and 54 women (44.6%) maintained it. Women with persistent infection developed more precancerous lesions (27.8%; p < 0.001) and high-grade squamous intraepithelial lesions (3.7%; p < 0.001). There was also an association between persistent infection and postmenopausal status. DISCUSSION: Human papillomavirus 16/18 cervical infection is associated with higher risk of cervical cancer when compared with other serotypes. CONCLUSION: Re-evaluation with co-test one year after the diagnosis of isolated non-16/18 human papillomavirus infection seems to be a reasonable approach.

Introdução: O cancro cervical é causado pelo papiloma vírus humano de alto risco. No entanto, apenas algumas mulheres com infeções persistentes desenvolvem lesões pré-malignas e malignas. Aproximadamente 20% destas neoplasias são causadas por serotipos que não os 16 e 18. Este estudo surge com o objetivo de avaliar a nossa prática clínica neste âmbito. Material e Métodos: Realizámos um estudo observacional e prospetivo entre setembro de 2012 e setembro de 2017, com inclusão de mulheres com infeção cervical isolada com papiloma vírus humano de alto risco, excluindo os serotipos 16 e 18 (com citologia negativa). Após reavaliação, comparámos dois grupos: mulheres que apresentaram resolução espontânea da infeção e mulheres com infeção persistente. Foram analisados dados clínicos e demográficos bem como a taxa de progressão para lesões precursoras e malignas. Resultados: Incluímos 165 mulheres e reavaliámos com co-teste 121 delas com pelo menos um ano de intervalo. Após reavaliação, 13,2% desenvolveram lesões precursoras, mas apenas duas (1,7%) foram consideradas de alto grau. Sessenta e sete mulheres (55,4%) apresentaram resolução espontânea da infeção e 54 (44,6%) mantiveram-na. As mulheres com infeção persistente desenvolveram mais lesões precursoras (27,8%; p < 0,001) e de alto grau (3,7%; p < 0,001). Constatou-se uma associação entre a persistência da infeção e pós-menopausa. Discussão: A infecção cervical com serotipos 16/18 associa-se a uma maior risco de desenvolvimento de cancro cervical quando comparada com outros serotipos. Conclusão: A reavaliação com co-teste um ano após o diagnóstico de infecção cervical isolada com papiloma vírus humano de alto risco, excluindo os serotipos 16 e 18, parece ser uma abordagem adequada.

Influence of body mass index in anti-Müllerian hormone levels in 951 non-polycystic ovarian syndrome women followed at a reproductive medicine unit.

PURPOSE: Anti-Müllerian hormone (AMH) is a useful marker of ovarian reserve. Obesity/overweight are increasing and may affect the reproductive health. Previous studies regarding the effect of body mass index (BMI) on AMH levels are discordant. Our main goal was to evaluate the influence of BMI on AMH levels in women without polycystic ovarian syndrome. METHODS: Revision of medical records of 951 women who performed AMH determinations as part of their fertility workup, between 2011 and 2016. RESULTS: Median AMH concentration was 1.75 [interquartile range (IQR) 2] ng/mL (12.9 pmol/mL) and median age at AMH determination was 35 (IQR 6) years. These women evidenced a median BMI of 23 (IQR 5) kg/m2. Caucasian women were more represented [889(89.3%)]. Smoking habits (present/past) were present in 359(36.1%), and 147(14.8%) harboured a history of ovarian surgery. On univariable analysis AMH was not correlated with BMI (r = 0.048/p = 0.135); the only factors influencing AMH were age (p < 0.001), ethnicity (p = 0.004), and previous ovarian surgery (p < 0.001). On multivariable analysis, age was the only variable significantly associated with AMH, evidencing a reduction of 6.2% for each additional year (p < 0.0001). Furthermore, we verified a trend suggesting an AMH reduction of 22% (p = 0.08) in black patients comparing with the caucasian ones, when controlling for the other variables. CONCLUSION: We report one of the largest series evaluating the influence of BMI on AMH levels and, consequently, on ovarian reserve. BMI does not seem to affect AMH levels. The reported concerns on infertility in overweight and obese women may be related to follicular development/oocyte maturation or endometrial disorders, rather than decreased ovarian reserve.

Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers.

BACKGROUND: The AZFc region of the human Y chromosome is a highly recombinogenic locus containing multi-copy male fertility genes located in repeated DNA blocks (amplicons). These AZFc gene families exhibit slight sequence variations between copies which are considered to have functional relevance. Yet, partial AZFc deletions yield phenotypes ranging from normospermia to azoospermia, thwarting definite conclusions on their real impact on fertility. RESULTS: The amplicon content of partial AZFc deletion products was characterized with novel amplicon-specific sequence markers. Data indicate that partial AZFc deletions are a male infertility risk [odds ratio: 5.6 (95% CI: 1.6-30.1)] and although high diversity of partial deletion products and sequence conversion profiles were recorded, the AZFc marker profiles detected in fertile men were also observed in infertile men. Additionally, the assessment of rearrangement recurrence by Y-lineage analysis indicated that while partial AZFc deletions occurred in highly diverse samples, haplotype diversity was minimal in fertile men sharing identical marker profiles. CONCLUSION: Although partial AZFc deletion products are highly heterogeneous in terms of amplicon content, this plasticity is not sufficient to account for the observed phenotypical variance. The lack of causative association between the deletion of specific gene copies and infertility suggests that AZFc gene content might be part of a multifactorial network, with Y-lineage evolution emerging as a possible phenotype modulator.

Cervical mesonephric adenocarcinoma: A case report of a rare gynecological tumor from embryological remains of the female genital tract / Adenocarcinoma mesonéfrico cervical: Relato de caso de um tumor ginecológico raro de restos embriológicos do trato genital feminino

Abstract Introduction Malignant mesonephric tumors are uncommon in the female genital tract, and they are usually located where embryonic remnants of Wolffian ducts are detected, such as the uterine cervix. The information about these tumors, their treatment protocol, and prognosis are scarce. Case report A 60-year-old woman with postmenopausal vaginal bleeding was initially diagnosed with endometrial carcinoma. After suspicion co-testing, the patient underwent a loop electrosurgical excision of the cervix and was eventually diagnosed with mesonephric adenocarcinoma. She was subjected to a radical hysterectomy, which revealed International Federation of Gynecology and Obstetrics (FIGO) IB1 stage, and adjuvant radiotherapy. The follow-up showed no evidence of recurrence after 60 months. Conclusion We present the case of a woman with cervical mesonephric adenocarcinoma. When compared with the literature, this case had the longest clinical follow-up without evidence of recurrence, which reinforces the concept that these tumors are associated with a favorable prognosis if managed according to the guidelines defined for the treatment of patients with cervical adenocarcinomas. Though a rare entity, it should be kept in mind as a differential diagnosis for other cervical cancers.

Short and Long-Term Efficacy of Laparoscopic Ovarian Diathermy in Women with Polycystic Ovary Syndrome.

INTRODUCTION: Polycystic ovary syndrome is the most frequent cause of anovulatory infertility and management involves a multistep approach. Laparoscopic ovarian diathermy is accepted as a second-line treatment of patients who failed to respond to clomiphene citrate. The aims of this study were to determine the efficacy of this technique at short and long-term and to perform an analysis of predictive factors of spontaneous pregnancy. MATERIAL AND METHODS: This retrospective study involved 76 women who underwent laparoscopic ovarian diathermy between 2004 and 2013 in a university hospital. Main outcomes were cycle regularity and pregnancy. Short-term outcomes recorded during followup in our centre were reviewed and long-term outcomes were evaluated by a telephone interview to all women whose surgery was undertaken more than three years ago. Clinical and biochemical data were analysed as predictive factors of spontaneous conceptionin patients without other infertility factors. RESULTS: Menstrual cycle regularity was initially achieved in 53 (70%) women and in the long-term follow-up subgroup, 52% (12/23) had regular periods. In general, 53 (70%) women conceived and 77 pregnancies were achieved, 60% of which were spontaneous. The only prognostic factor found to be significantly associated with spontaneous conception was a shorter duration of infertility (< 3 years) (p < 0.05). DISCUSSION: Laparoscopic ovarian diathermy showed pregnancy rates comparable to other ovulation induction treatments with the advantage of having a long lasting beneficial effect in menstrual regularity and fertility. CONCLUSION: Laparoscopic ovarian diathermy is a safe and effective treatment option for anovulatory infertility in women with polycystic ovary syndrome.

Introdução: A síndrome dos ovários poliquísticos é a causa mais frequente de anovulação e o tratamento envolve uma abordagem faseada. A electrocoagulação laparoscópica dos ovários é aceite como segunda linha no tratamento das doentes que não respondem ao citrato de clomifeno. Os objectivos deste estudo foram determinar a eficácia desta técnica a curto e longo prazo e definir os factores preditivos de gravidez espontânea. Material e Métodos: Este estudo retrospectivo envolveu 76 mulheres submetidas a electrocoagulação dos ovários entre 2004 e 2013, num hospital universitário. Os desfechos principais foram a regularidade menstrual e gravidez. Os resultados a curto prazo registados durante a vigilância na unidade foram revistos e os desfechos a longo prazo foram avaliados através de entrevista telefónica realizada a todas as mulheres operadas há mais de três anos. Dados clínicos e bioquímicos foram analisados como factores preditivos de gravidez espontânea em doentes sem outros factores de infertilidade. Resultados: A regularidade do ciclo menstrual foi alcançada inicialmente em 53 (70%) mulheres e a longo prazo, 52% (12/53) tinham ciclos regulares. Em geral, 53 (70%) mulheres engravidaram e foram obtidas 77 gravidezes, 60% das quais foram espontâneas. O único factor de prognóstico associado a gravidez espontânea foi a duração da infertilidade inferior a três anos (p < 0,05). Discussão: A electrocoagulação dos ovários demonstrou taxas de gravidez comparáveis a outros tratamentos de indução da ovulação com a vantagem de ter efeitos benéficos duradouros na regularidade menstrual e fertilidade. Conclusão: A electrocoagulação dos ovários é uma opção de tratamento segura e eficaz na infertilidade anovulatória em mulheres com síndrome dos ovários poliquísticos.

European view of subspecialty training on behalf of the European Society of Human Reproduction and Embryology (ESHRE).

Specialist training in reproductive medicine within Europe continues to evolve. Recent revisions, updates, and initiatives have helped to refine the core educational needs for the specialist trainee.

Validation of the Portuguese Version of EHP-30 (The Endometriosis Health Profile-30).

INTRODUCTION: Endometriosis Health Profile Questionnaire-30 is currently the most used questionnaire for quality of life measurement in women with endometriosis. The aim of this study is to evaluate the psychometric properties and to validate the Portuguese Endometriosis Health Profile Questionnaire-30 version. MATERIAL AND METHODS: A sequential sample of 152 patients with endometriosis, followed in a Portugal reference center, were asked to complete a questionnaire on social and demographic features, the Portuguese version of the Endometriosis Health Profile Questionnaire-30 and of the Short Form Health Survey 36 Item â version 2. Appropriate statistical analysis was performed using descriptive statistics, factor analysis, internal consistency, item-total correlation and convergent validity. RESULTS: Factorial analysis confirmed the validity of the five-dimension structure of the Endometriosis Health Profile Questionnaire-30 core questionnaire, which explained 83.2% of the total variance. All item-total correlations presented acceptable results and high internal consistency, with Cronbach's alpha ranging between 0.876 and 0.981 for the core questionnaire and between 0.863 and 0.951 for the modular questionnaire. Significant negative associations between similar scales of Endometriosis Health Profile Questionnaire-30 and Short Form Health Survey 36 Item â version 2 were demonstrated. Data completeness achieved was high for all dimensions. The emotional well-being scale in the core questionnaire and the infertility scale in the modular section had the highest median scores, and therefore the most negative impact on the quality of life of participating women. DISCUSSION: The test-retest reliability and responsiveness of the questionnaire should be evaluated in future studies. CONCLUSION: The present study demonstrates that the Portuguese version of the Endometriosis Health Profile Questionnaire-30 is a valid, reliable and acceptable tool for evaluating the health-related quality of life of Portuguese women with endometriosis.

Introdução: O Endometriosis Health Profile Questionnaire-30 é atualmente o questionário mais utilizado para avaliação da qualidade de vida em mulheres com endometriose. O objetivo do presente estudo é avaliar as propriedades psicométricas e validar a versão portuguesa do Endometriosis Health Profile Questionnaire-30.Material e Métodos: Amostra sequencial de conveniência, constituída por 152 doentes com endometriose, de um centro de referência no país, que autopreencheram um questionário sociodemográfico, a versão portuguesa do Endometriosis Health Profile Questionnaire-30 e do Short Form Health Survey 36 Itemâversão 2. Procedeu-se a análise estatística apropriada, com estatística descritiva, análise fatorial, avaliação da consistência interna, correlação item-total e validade convergente (usando o Short Form Health Survey 36 Itemâversão 2).Resultados: A análise fatorial confirmou a validade da estrutura em cinco dimensões do questionário central, explicando uma variância total de 83,2%. A correlação item-total apresentou resultados aceitáveis em todos os itens e a consistência interna foi elevada, com α Cronbach variando de 0,876 a 0,981 nas dimensões do questionário central, e de 0,863 a 0,951 no modular. Demonstrou-se associação negativa significativa entre as dimensões similares do Endometriosis Health Profile Questionnaire-30 e do Short Form Health Survey36 Itemâversão 2. A taxa de preenchimento do questionário foi elevada para todas as dimensões. A perda do bem-estar emocional (no questionário central) e a infertilidade (no modular) apresentaram as pontuações médias mais elevadas e, consequentemente, impacto mais negativo sobre a qualidade de vida.Discussão: São necessários estudos para avaliar a fiabilidade teste-reteste e a sensibilidade à mudança desta versão portuguesa do Endometriosis Health Profile Questionnaire-30.Conclusão: Este estudo demonstra que a versão portuguesa do Endometriosis Health Profile Questionnaire-30 é um instrumento adaptado, validado e bem aceite para a avaliação da qualidade de vida das mulheres portuguesas com endometriose.

Somatic stem cells and their dysfunction in endometriosis.

Emerging evidence indicates that somatic stem cells (SSCs) of different types prominently contribute to endometrium-associated disorders such as endometriosis. We reviewed the pertinent studies available on PubMed, published in English language until December 2014 and focused on the involvement of SSCs in the pathogenesis of this common gynecological disease. A concise summary of the data obtained from in vitro experiments, animal models, and human tissue analyses provides insights into the SSC dysregulation in endometriotic lesions. In addition, a set of research results is presented supporting that SSC-targeting, in combination with hormonal therapy, may result in improved control of the disease, while a more in-depth characterization of endometriosis SSCs may contribute to the development of early-disease diagnostic tests with increased sensitivity and specificity. Key message: Seemingly essential for the establishment and progression of endometriotic lesions, dysregulated SSCs, and associated molecular alterations hold a promise as potential endometriosis markers and therapeutic targets.

Angiogenesis as a therapeutic target in endometriosis.

INTRODUCTION: Angiogenesis is a key factor for the successful establishment and growth of endometriotic lesions. MATERIAL AND METHODS: We performed a literature search in PubMed and reviewed the most pertinent studies published until January 2014 and focused on the endometriosis-associated angiogenesis and/or anti-angiogenic strategies for the treatment of this gynecological disorder. RESULTS: The present review provides a concise summary of the known molecular mechanisms that promote vascularization of endometriotic lesions and may serve as potential therapeutic targets. We also present a systematic overview of the inclusive and exclusive anti-angiogenic agents that have been already studied in cell cultures, animal models and/or endometriosis patients. DISCUSSION AND CONCLUSION: The integration of anti-angiogenic approaches in the multimodal management strategies for endometriosis patients will be conditioned by the outcomes of future assessments regarding the effectiveness of such treatments, the risk of drug resistance development and the incidence of unacceptable side effects.

Introdução: A angiogénese é um factor determinante no estabelecimento e desenvolvimento das lesões de endometriose. Material e Métodos: Foram revistos os artigos indexados na PubMed e incluídos os estudos mais relevantes, publicados até Janeiro de 2014, sobre a angiogénese nas lesões de endometriose e/ou estratégias anti-angiogénicas para o tratamento desta doença ginecológica. Resultados: O presente artigo fornece um resumo conciso dos mecanismos moleculares conhecidos que promovem a vascularização das lesões de endometriose, podendo servir como alvos terapêuticos potenciais. Apresenta-se também uma revisão sistemática dos agentes anti-angiogénicos, inclusivos e exclusivos, que já foram avaliados em culturas de células, modelos animais e/ou doentes com endometriose. Discussão e Conclusão: A integração das estratégias anti-angiogénicas na terapêutica multimodal de endometriose será condicionada pelos resultados de avaliações futuras da verdadeira eficácia desses tratamentos, do risco de desenvolvimento de resistência aos medicamentos e da incidência de efeitos colaterais inaceitáveis.

[Total laparoscopic hysterectomy: retrospective analysis of 262 cases]. / Histerectomia totalmente laparoscópica: análise retrospetiva de 262 casos.

INTRODUCTION: Hysterectomy is one of the most common gynecological procedures and may be performed either by vaginal approach, laparotomy or laparoscopy. Although total laparoscopic hysterectomy has multiple advantages, conflicting major complication rates have been previously reported. OBJECTIVES: To describe our experience performing TLH and to evaluate complication rates. MATERIAL AND METHODS: A retrospective observational study of all total laparoscopic hysterectomy performed in our department, by the same surgical team, between April 2009 and March 2013 (n = 262), was conducted. Medical records were reviewed for patient characteristics, operating time, uterine weight, post-operative hemoglobin variation, length of hospital stay, and intra and postoperative complications. RESULTS: Patient average age was 48.9 ± 9.0 years and 49.2% had previous abdominopelvic surgery. The average body mass index was 26.5 ± 4.5 kg/m(2) and 42% of women were either overweight or obese. The mean operating time during the total study period was 77.7 ± 27.5 minutes, but it decreased significantly as the surgical team's training increased. Average uterine weight was 241.0 ± 168.4 g and average hospital stay was 1.49 ± 0.9 days. The mean postoperative hemoglobin variation was -1.5 ± 0.8 g/dL. The major and minor complication rates were 1.5% (n = 4) and 11.5% (n = 30), respectively. One procedure was converted to laparotomy and two women had a vaginal vault dehiscence. No important urinary tract or bowel injuries occurred. CONCLUSIONS: This study demonstrates that, in experienced hands, total laparoscopic hysterectomy is safe and with low complications rates.

Introdução: A histerectomia é a cirurgia ginecológica major mais frequentemente realizada nos países desenvolvidos, considerando-se três principais vias de abordagem: vaginal, abdominal e laparoscópica. Apesar de múltiplas vantagens, a histerectomia totalmente laparoscópica tem-se associado a controvérsia relativamente à taxa de complicações.Objectivos: Análise da nossa casuística de histerectomia totalmente laparoscópica e avaliação da taxa de complicações.Material e Métodos: Análise retrospetiva dos processos clínicos das doentes submetidas a histerectomia totalmente laparoscópica no nosso departamento, pela mesma equipa cirúrgica, entre abril de 2009 e março de 2013 (n = 262).Resultados: As doentes tinham em média 48,9 ± 9 anos e 49,2% tinha antecedentes de cirurgia abdomino-pélvica. O índice de massa corporal médio era 26,5 ± 4,5 kg/m2, sendo que 42% eram obesas ou tinham excesso de peso. O tempo operatório médio para realização da histerectomia totalmente laparoscópica foi 77,7 ± 27,5 minutos, diminuindo significativamente com o aumento da experiência da equipa cirúrgica. O peso médio da peça operatória foi 241 ± 168,4g e a duração média do internamento após a cirurgia foi 1,49 ±0,9 dias. A diferença entre a hemoglobina pré e pós-operatória foi 1,5 ± 0,8g/dL. A morbilidade major foi 1,5% (n = 4) e a minor 11,5% (n = 30). Salienta-se um caso de conversão para laparotomia e dois casos de deiscência da cúpula vaginal. Não ocorreu nenhuma lesão urinária ou gastrointestinal grave.Conclusões: Esta série demonstra que, se realizada por uma equipa cirúrgica adequadamente treinada, a histerectomia totalmente laparoscópica é segura e associada a baixa taxa de complicações.