KRAS variation and risk of endometriosis

Endometriosis is a common gynaecological disease with symptoms of pelvic pain and infertility which affects 7-10% of women in their reproductive years. Activation of an oncogenic allele of Kirsten rat sarcoma viral oncogene homologue (KRAS) in the reproductive tract of mice resulted in the development of endometriosis. We hypothesized that variation in KRAS may influence risk of endometriosis in humans. Thirty tagSNPs spanning a region of 60.7 kb across the KRAS locus were genotyped using iPLEX chemistry on a MALDI-TOF MassARRAY platform in 959 endometriosis cases and 959 unrelated controls, and data were analysed for association with endometriosis. Genotypes were obtained for most individuals with a mean completion rate of 99.1%. We identified six haplotype blocks across the KRAS locus in our sample. There were no significant differences between cases and controls in the frequencies of individual single-nucleotide polymorphisms (SNPs) or haplotypes. We also developed a rapid method to screen for 11 common KRAS and BRAF mutations on the Sequenom MassARRAY system. The assay detected all mutations previously identified by direct sequencing in a panel of positive controls. No germline variants for KRAS or BRAF were detected. Our results demonstrate that any risk of endometriosis in women because of common variation in KRAS must be very small.

Patient anxiety and experiences associated with an outpatient "one-stop" "see and treat" hysteroscopy clinic

BACKGROUND: "One-stop" outpatient hysteroscopy clinics have become well established for the investigation and treatment of women with abnormal uterine bleeding. However, the advantages of these clinics may be offset by patient factors such as anxiety, pain, and dissatisfaction. This study aimed to establish patients' views and experiences of outpatient service delivery in the context of a one-stop diagnostic and therapeutic hysteroscopy clinic, to determine the amount of anxiety experienced by these women and compare this with other settings, and to determine any predictors for patient preferences. METHODS: The 20-item State-Trait Anxiety Inventory was given to 240 women attending a one-stop hysteroscopy clinic: to 73 consecutive women before their appointment in a general gynecology clinic and to 36 consecutive women attending a chronic pelvic pain clinic. The results were compared with published data for the normal female population, for women awaiting major surgery, and for women awaiting a colposcopy clinic appointment. In addition, a questionnaire designed to ascertain patients' views and experiences was used. Logistic regression analysis was used to delineate the predictive values of diagnostic or therapeutic hysteroscopy, and to determine their effect on the preference of patients to have the procedure performed under general anesthesia in the future. RESULTS: Women attending the hysteroscopy clinic in this study reported significantly higher levels of anxiety than those attending the general gynecology clinic (median, 45 vs 39; p = 0.004), but the levels of anxiety were comparable with those of women attending the chronic pelvic pain clinic (median, 45 vs 46; p = 0.8). As compared with the data from the normal female population (mean, 35.7) and those reported for women awaiting major surgery (mean, 41.2), the levels of anxiety experienced before outpatient hysteroscopy clinic treatment were found to be higher (mean, 45.7). Only women awaiting colposcopy (6-item mean score, 51.1 +/- 13.3) experienced significantly higher anxiety scores than the women awaiting outpatient hysteroscopy (6-item mean score, 47.3 +/- 13.9; p = 0.002). Despite their anxiety, most women are satisfied with the outpatient hysteroscopy "see and treat" service. High levels of anxiety, particularly concerning pain but not operative intervention, were significant predictors of patients desiring a future procedure to be performed under general anesthesia. CONCLUSIONS: Outpatient hysteroscopy is associated with significant anxiety, which increases the likelihood of intolerance for the outpatient procedure. However, among those undergoing operative therapeutic procedures, dissatisfaction was not associated with the outpatient setting.

Rastreio de Infeções Sexualmente Transmissíveis não víricas nos adolescentes: qual o estado da arte

As infeções sexualmente transmissíveis (IST) constituem um problema persistente de saúde pública, sendo os adolescentes e adultos jovens os que apresentam as taxas de prevalência mais elevadas para algumas IST. As IST não víricas nos países desenvolvidos incluem a Chlamydia Trachomatis, a Neisseria gonorrhoeae, o Treponema pallidume a Trichomonas vaginalis. A deteção precoce das IST não víricas tem impacto positivo a nível individual e na saúde pública: permite instituição atem- pada de tratamento adequado, a redução de transmissão entre parceiros, bem como reduzir as complicações a longo prazo, nomeadamente doença inflamatória pélvica, dor pélvica crónica, gravidez ectópica e infertilidade. Várias sociedades médicas internacionais publicaram recomendações para o rastreio de algumas IST não víricas em de- terminados grupos. Em Portugal, a Direção Geral de Saúde (DGS) atualizou em 2014 a norma sobre a notificação obrigatória de doenças transmissíveis, que inclui a gonorreia, a sífilis e a infeção por Chlamydia Trachomatis. Não obstante, os estudos sobre a epidemiologia de IST são parcos em Portugal e apenas recentemente foi contemplado o rastreio oportunístico de infeção genital por Chlamydia Trachomatis no Plano Nacional de Saúde 2011-2016. O médico de família através da sua abordagem holística centrada na pessoa, no seu contexto familiar e social (focando antecedentes pessoais / comportamentos de risco) tem necessariamente um papel determinante na prevenção primária e no rastreio das IST.

A rare benign ovarian tumour

Sclerosing stromal tumour (SST) of the ovary is an extremely rare and benign ovarian neoplasm, accounting for 6% of the sex cord stromal ovarian tumours subtype. Usually, it is found during the second and third decades of life. Patients commonly present with pelvic pain, a palpable pelvic mass or menstrual irregularity. We report a case of a 20-year-old woman reporting of mild pelvic pain, with normal laboratory data. On imaging examinations, a large right adnexal tumour was found, with features suggesting an ovarian sex cord tumour. The patient underwent right salpingo-oophorectomy, diagnosing a SST of the ovary. This paper also reviews the literature, and emphasises the typical pathological and imaging characteristics of these rare benign ovarian lesions, and their impact, in a conservative surgery.

Renal angiomyolipoma with renal vein thrombosis: an incidental finding

A 66-year-old female with history of endometrioid endometrial carcinoma was admitted to our institution with abdominal and pelvic pain. A CT scan revealed a mass within the right upper kidney with a tumour thrombus that extended through the right renal vein up to the point of confluence with the inferior vena cava (IVC). The imaging features of the mass strongly suggested a diagnosis of renal angiomyolipoma (AML) with renal vein thrombosis. The patient was proposed an open radical right nephrectomy with right renal thrombectomy for histopathological confirmation of the diagnosis of AML with extension to the right renal vein and preventing complications such as potentially fatal pulmonary thromboembolism. The implantation of a temporary IVC filter before surgery was recommended.

Doença, inflamatória pélvica: o que o radiologista precisa saber?

O diagnóstico da doença inflamatória pélvica é clínico, baseando-se numa combinação de sintomas e sinais, que incluem dor pélvica e febre. A referenciação ao médico radiologista ocorre na fase aguda da doença, quando é necessário excluir diagnósticos diferenciais (ginecológicos, gastrointestinais ou urinários) ou em doentes que tiveram um episódio agudo prévio, por vezes assintomático, que recorrem ao médico assistente por complicações, como dor pélvica crónica, gravidez ectópica e infertilidade. Neste contexto, é fundamental que o médico radiologista reconheça as manifestações radiológicas dos diferentes estádios da doença inflamatória pélvica, com especial ênfase para o abcesso tuboovárico, cujas características radiológicas colocam diagnóstico diferencial com carcinoma do ovário.

Post-menopausal metrorrhagia - an ovarian thecoma presentation

Os tecomas são tumores raros do ovário, do grupo dos tumores dos cordões sexuais, de natureza sólida e frequentemente unilaterais. Têm maior incidência no período pósmenopausa e normalmente são silenciosos. Quando sintomáticos traduzem-se por dor pélvica e metrorragia (condicionada pela habitual natureza produtora de estrogénios do tumor). Podem ser concomitantes a síndrome de Meigs e/ou de Golin-Goltz e associaremse a transformação benigna ou maligna do endométrio. Embora a ecografia possa ser inespecífica neste contexto, uma avaliação multiparamétrica abrangente em ressonância magnética, incluindo por estudo dinâmico e com ponderação em difusão, permite frequentemente orientar de modo favorável a marcha diagnóstica. Apresentamos um caso raro de tecoma do ovário, com espessamento associado do endométrio, avaliado por ecografia ginecológica por vias supra-púbica e transvaginal bem como tomografia computorizada e ressonância magnética, confirmado cirurgicamente. Tratou-se de uma examinada caucasiana de 61 anos de idade, apresentando-se com metrorragia pósmenopáusica, sem outros sintomas nem contexto familiar relevante. Procedeu-se, a este propósito, a uma revisão da literatura focada no diagnóstico multimodal diferencial, apresentação clínica, tratamento e prognóstico destes tumores.

Dor pélvica crónica de origem ginecológica

A dor pélvica crónica (DPC) é um problema comum, que se apresenta como um grande desafio para os clínicos que com ela têm que lidar, pela sua etiologia desconhecida, pela história natural complexa e pela má resposta terapêutica. São muitas e variadas as causas de DPC, devendo esta ser abordada numa perspectiva multidisciplinar. Afecta cerca de 1 em cada 7 mulheres nos EUA, com uma prevalência de cerca de 39% nas mulheres em idade fértil, sendo mais frequente nas mulheres entre os 26-30 anos de idade e nas mulheres de raça negra.As causas mais frequentes de DPC de origem ginecológica são: a endometriose, a adenomiose, os leiomiomas, o síndroma da congestão pélvica e a doença inflamatória pélvica crónica.

Urachal carcinoma: imaging findings

Urachal carcinoma is a rare neoplasm, which accounts for only 0.5–2% of bladder malignancies, and arises from a remnant of the fetal genitourinary tract. A 46-year-old woman presented with a history of pelvic pain and frequent daytime urination. Ultrasound (US), computed tomography (CT), and magnetic resonance (MR) demonstrated a supravesical heterogeneous mass with calcifications. The patient underwent a partial cystectomy with en-bloc resection of the mass and histopathological examination revealed the diagnosis of urachal adenocarcinoma. Urachal carcinomas are usually associated with poor prognosis and early diagnosis is fundamental. CT and MR are useful to correctly diagnose and preoperatively staging.

The relationship between hip-abductor strength and the magnitude of pelvic drop in patients with low back pain

Context: It has been theorized that a positive Trendelenburg test (TT) indicates weakness of the stance hip-abductor (HABD) musculature, results in contralateral pelvic drop, and represents impaired load transfer, which may contribute to low back pain. Few studies have tested whether weakness of the HABDs is directly related to the magnitude of pelvic drop (MPD). Objective: To examine the relationship between HABD strength and MPD during the static TT and during walking for patients with nonspecific low back pain (NSLBP) and healthy controls (CON). A secondary purpose was to examine this relationship in NSLBP after a 3-wk HABD-strengthening program. Design: Quasi-experimental. Setting: Clinical research laboratory. Participants: 20 (10 NSLBP and 10 CON). Intervention: HABD strengthening. Main Outcome Measures: Normalized HABD strength, MPD during TT, and maximal pelvic frontal-plane excursion during walking. Results: At baseline, the NSLBP subjects were significantly weaker (31%; P = .03) than CON. No differences in maximal pelvic frontal-plane excursion (P = .72), right MPD (P = 1.00), or left MPD (P = .40) were measured between groups. During the static TT, nonsignificant correlations were found between left HABD strength and right MPD for NSLBP (r = -.32, P = .36) and CON (r = -.24, P = .48) and between right HABD strength and left MPD for NSLBP (r = -.24, P = .50) and CON (r = -.41, P = .22). Nonsignificant correlations were found between HABD strength and maximal pelvic frontal-plane excursion for NSLBP (r = -.04, P = .90) and CON (r = -.14, P = .68). After strengthening, NSLBP demonstrated significant increases in HABD strength (12%; P = .02), 48% reduction in pain, and no differences in MPD during static TT and maximal pelvic frontal-plane excursion compared with baseline. Conclusions: HABD strength was poorly correlated to MPD during the static TT and during walking in CON and NSLBP. The results suggest that HABD strength may not be the only contributing factor in controlling pelvic stability, and the static TT has limited use as a measure of HABD function.

Pregnancy-related low back pain and pelvic girdle pain approximately 14 months after pregnancy : pain status, self-rated health and family situation

Background: Pelvic girdle pain (PGP) in pregnancy is distinct from pregnancy-related low back pain (PLBP). However, women with combined PLBP and PGP report more serious consequences in terms of health and function. PGP has been estimated to affect about half of pregnant women, where 25% experience serious pain and 8% experience severe disability. To date there are relatively few studies regarding persistent PLBP/PGP postpartum of more than 3 months, thus the main objective was to identify the prevalence of persistent PLBP and PGP as well as the differences over time in regard to pain status, self-rated health (SRH) and family situation at 12 months postpartum. Methods: The study is a 12 month follow-up of a cohort of pregnant women developing PLBP and PGP during pregnancy, and who experienced persistent pain at 6 month follow-up after pregnancy. Women reporting PLBP/PGP (n = 639) during pregnancy were followed up with a second questionnaire at approximately six month after delivery. Women reporting recurrent or persistent LBP/PGP at the second questionnaire (n = 200) were sent a third questionnaire at 12 month postpartum. Results: A total of 176 women responded to the questionnaire. Thirty-four women (19.3%) reported remission of LBP/PGP, whereas 65.3% (n = 115) and 15.3% (n = 27), reported recurrent LBP/PGP or continuous LBP/PGP, respectively. The time between base line and the 12 months follow-up was in actuality 14 months. Women with previous LBP before pregnancy had an increased odds ratio (OR) of reporting 'recurrent pain' (OR = 2.47) or 'continuous pain' (OR = 3.35) postpartum compared to women who reported 'no pain' at the follow-up. Women with 'continuous pain' reported statistically significant higher level of pain at all measure points (0, 6 and 12 months postpartum). Non-responders were found to report a statistically significant less positive scoring regarding relationship satisfaction compared to responders. Conclusions: The results from this study demonstrate that persistent PLBP/PGP is a major individual and public health issue among women 14 months postpartum, negatively affecting their self-reported health. However, the perceived relationship satisfaction seems to be stable between the groups.

Struggling with daily life and enduring pain : a qualitative study of women's experiences with pelvic girdle pain during pregnancy

Background. Few studies have investigated the experiences of living with pelvic girdle pain (PGP) and its impact on pregnant women’s lives. To address this gap in knowledge, this study investigates the experiences of women living with PGP during pregnancy. Methods. A purposive sample, of nine pregnant women with diagnosed PGP, were interviewed about their experiences. Interviews were recorded, transcribed to text and analysed using a Grounded Theory approach. Results. The core category that evolved from the analysis of experiences of living with PGP in pregnancy was “struggling with daily life and enduring pain”. Three properties addressing the actions caused by PGP were identified: i) grasping the incomprehensible; ii) balancing support and dependence and iii) managing the losses. These experiences expressed by the informants constitute a basis for the consequences of PGP: iv) enduring pain; v) being a burden; vi) calculating the risks and the experiences of the informants as vii) abdicating as a mother. Finally, the informants’ experiences of the consequences regarding the current pregnancy and any potential future pregnancies is presented in viii) paying the price and reconsidering the future. A conceptual model of the actions and consequences experienced by the pregnant informants living with PGP is presented. Conclusions. PGP during pregnancy greatly affects the informant’s experiences of her pregnancy, her roles in relationships, and her social context. For informants with young children, PGP negatively affects the role of being a mother, a situation that further strains the experience. As the constant pain disturbs most aspects of the lives of the informants, improvements in the treatment of PGP is of importance as to increase the quality of life. This pregnancy-related condition is prevalent and must be considered a major public health concern during pregnancy.

Teaching clinical anatomy of the female pelvic floor to undergraduate students: A critical review of nevralgic points

Pelvic floor anatomy is complex and its three-dimensional organization is often difficult to understand for both undergrad- uate and postgraduate students. Here, we focused on several critical points that need to be considered when teaching the perineum. We have to deal with a mixed population of students and with a variety of interest. Yet, a perfect knowledge of the pelvic floor is the basis for any gynecologist and for any surgical intervention. Our objectives are several-fold; i) to estab- lish the objectives and the best way of teaching, ii) to identify and localize areas in the female pelvic floor that are suscepti- ble to generate problems in understanding the three-dimensional organization, iii) to create novel approaches by respecting the anatomical surroundings, and iv) prospectively, to identify elements that may create problems during surgery i.e. to have a closer look at nerve trajectories and on compression sites that may cause neuralgia or postoperative pain. A feedback from students concludes that they have difficulties to assimilate this much information, especially the different imaging tech- niques. Eventually, this will lead to a severe selection of what has to be taught and included in lectures or practicals. Another consequence is that more time to study prosected pelves needs to be given.

Pelvic floor dysfunction 6 years post-anal sphincter tear at the time of vaginal delivery.

INTRODUCTION AND HYPOTHESIS: This study aims to estimate fecal, urinary incontinence, and sexual function 6 years after an obstetrical anal sphincter tear. METHODS: Among 13,213 women who had a vaginal delivery of a cephalic singleton at term, 196 women sustained an anal sphincter tear. They were matched to 588 controls. Validated questionnaires grading fecal and urinary incontinence, and sexual dysfunction were completed by the participants. RESULTS: Severe fecal incontinence was more frequently reported by women who had sustained an anal sphincter tear compared to the controls. Women with an anal sphincter tear had no increased risk of urinary incontinence, but reported significantly more pain, difficulty with vaginal lubrication, and difficulty achieving orgasm compared to the controls. A fetal occiput posterior position during childbirth was an independent risk factor for both severe urinary incontinence and severe sexual dysfunction. CONCLUSIONS: Fecal incontinence is strongly associated with an anal sphincter tear. A fetal occiput posterior position represents a risk factor for urinary incontinence and sexual dysfunction.