Management Strategies For Women Research Articles

The problem of treating acne and rosacea in women of reproductive age

Often enough, women of reproductive age make medical appointments for problems such as acne and rosacea. Treatment of these diseases in this group of patients has unique features. For example, isotretinoin can only be administered for some indications and in combination with most effective contraceptive methods due to its teratogenicity. Also worth noting is that acne prevalence rates among pregnant women are quite high – up to 43% according to various studies. In fact, symptoms of the disease develop during the second and third trimesters. The choice of therapy for these patients is limited and mainly includes topical drugs. The acne management strategies in women planning pregnancy are similar to that in pregnant women. Foreign studies show the relationship between rosacea and hormonal and reproductive factors. Thus, the disease often develops in premenopause; the risk of developing rosacea is also increased in nulliparous women and women delivering their first and last child at an older age. In our practice, we often prescribe a 1% clindamycin solution as a topical antibiotic. The drug is easy to apply and is not visible on the skin after its use. Absence of drug-induced photosensitivity is a significant advantage of the solution over drugs from other groups, which allows using the drug during periods of high solar activity (in particular, in spring and summer). This is also important for patients with rosacea, as exposure to ultraviolet light is one of the factors known to aggravate the disease. A number of management strategies and treatment algorithm for patients of reproductive age suffering from acne and rosacea that are provided in this work will help physicians to select the optimal and safe treatment with due account for reproductive life plans.

Psychosocial outcomes after varying risk management strategies in women at increased familial breast cancer risk: a mixed methods study of patient and partner outcomes.

Female carriers of BRCA1/2 genes have an increased lifetime risk of breast cancer. Options for managing risk include imaging surveillance or risk-reducing surgery (RRS). This mixed methods study aimed to identify factors affecting risk-management decisions and the psychosocial outcomes of these decisions for high-risk women and their partners. Semi-structured qualitative interviews were performed with women at high breast cancer risk who had faced these choices. Partners were also interviewed. Analysis used a framework approach. A bespoke questionnaire was developed to quantify and explore associations. A total of 32 women were interviewed. Of these, 27 had partners of whom 7 (26%) agreed to be interviewed. Four main themes arose: perception of risk and impact of increased risk; risk-management strategy decision-making; impact of risk-management strategy; support needs and partner relationship issues. The questionnaire response rate was 36/157 (23%). Decision satisfaction was high in both surveillance and RRS groups. Relationship changes were common but not universal. Common causes of distress following RRS included adverse body image changes. Both groups experienced generalised and cancer-specific anxiety. Drivers for surgery included having children, deaths of close family from breast cancer and higher levels of cancer anxiety. Levels of psychosocial and decision satisfaction were high for women choosing both RRS and surveillance but, for a minority, risk-reducing measures result in long-term psychosocial morbidity. Efforts to recognise women at increased risk of psychological morbidity may allow targeted support.

Sex differences in LDL-C control in a primary care population: The PORTRAIT-DYS study

Background and aimsCardiovascular (CV) diseases show clear differences in clinical manifestation and treatment outcomes between men and women. To reduce sex disparities in achieving lipid-lowering therapy (LLT) goals, a sex-focused assessment is essential and more studies are needed to bring new evidence to clinicians. This study aims to assess the role of sex in attaining low-density lipoprotein cholesterol (LDL-C) goals, after correction for age, CV risk category, LLT intensity, and presence of mental health disorder and social deprivation. MethodsA retrospective cohort analysis of patients aged 40–85, followed in 1 hospital and 14 primary care centers in Portugal, using electronic health records from 1/1/2012 to 31/12/2020, was performed. The analysis considered an episode-based design, where exposure consists of any time when LLT was started or intensity changed. The likelihood of reaching the LDL-C goal according to contemporary ESC/EAS guidelines was modeled using multivariate Cox regression. LDL-C goal achievement at 180 days was defined as the outcome. The analysis was repeated at 30-day follow-up intervals up to 360 days, and also stratified by CV risk category. ResultsWe identified 40,032 exposure episodes (LLT initiation or intensity change) in 30,323 distinct patients. Male sex, older age, lower CV risk and increasing LLT intensity were associated with improved LDL-C control. Women were 22% less likely to reach the LDL-C goal than men (HR = 0.78, 95% CI:0.73, 0.82) independently of covariates. ConclusionsWomen have a lower likelihood of attaining LDL-C goals than men after adjustment for LLT intensity, age, CV risk category, presence of mental health disorder and social deprivation. This finding underscores the need for further investigation and tailoring of LLT management strategies in women.

Addressing disparities in the uptake of genetic counseling and testing in African American women; rationale, design and methods

BackgroundGenetic counseling and testing (GCT) informs risk reduction and management strategies in women at risk for carrying a pathogenic variation in the BRCA1 or BRCA2 (BRCA1/2) genes. African American (hereinafter referred to as Black) women are less likely to receive GCT services for hereditary breast and ovarian cancer (HBOC). The objective of this work was to examine existing literature regarding successful culturally tailored GCT interventions for Black women and to describe the rationale and protocol for a randomized feasibility trial to test the efficacy of a culturally tailored GCT intervention. Methods/designThe For Our Health (FOH) study is a two-arm randomized control trial designed to test the efficacy of a video intervention to promote the uptake of GCT among Black women with a high risk of HBOC. The culturally tailored video intervention targets key beliefs, knowledge gaps, misconceptions, and key anticipated emotions relevant for GCT. After completing the baseline survey, 50 women at risk of HBOC will be randomized (1:1) to one of two trial arms: a YouTube video intervention or a publicly available fact sheet. Final assessments will immediately follow receipt of either video or fact sheet. ConclusionFew studies have tested interventions to improve GCT uptake among Black women. The FOH trial will fill an important scientific gap in knowledge regarding strategies to reduce disparities in GCT among Black women at risk of HBOC.

Role of Metabolic Surgery in Polycystic Ovarian Disease with Obesity in the Asian Population: A Systematic Narrative Literature Review

Abstract Polycystic ovarian syndrome is becoming more prevalent (up to 13%) among young women of reproductive age with obesity. Lifestyle modifications remain the first line of management of obesity in these individuals. Bariatric and metabolic surgery (BMS) has a role in achieving significant and sustained weight loss in cases where lifestyle modifications alone are not effective. A detailed systematic narrative literature review was undertaken to understand the role of BMS in this subset of individuals to help recommend management strategies in women with polycystic ovarian syndrome, obesity, and infertility among the Asian population. BMS has been documented to correct menstrual irregularities (from 81% to 15%, odds ratio = 0.03, 95% confidence interval: 0.01–0.08), hirsutism from 71% to 38% (odds ratio = 0.21, 95% confidence interval: 0.06–0.74), and endocrine abnormalities associated with polycystic ovarian syndrome. Improvement in infertility (high incidence of nearly 58%) was noted with normalization of the body mass index (BMI) postsurgery in some studies. Larger sample size studies with a longer follow-up are required to enable the development of guidelines on the role of BMS in the improvement of infertility in patients with polycystic ovarian syndrome. The superiority of one type of technique of BMS has not been demonstrated for improving the fertility rates (P = 0.9) among the different types of surgical procedures and pregnancy rates. Different regions of the world will need different BMI cutoffs while managing the endocrine abnormalities, menstrual irregularities, and associated infertility of women with polycystic ovarian syndrome and obesity. This systematic narrative literature review is an attempt to study the relevant literature in this field with a special focus on the Asian population.

Management of Advanced Squamous Cell Carcinoma of the Vulva.

Simple SummaryVulvar cancer is a rare gynaecological malignancy that has an increasing incidence, particularly in younger women. Early vulvar cancer can be treated and cured with surgical excision. Approximately 30% of women present with advanced disease, which requires treatment either with mutilating surgery or a combination of chemotherapy and radiotherapy, which is an effective treatment but has many side effects. Current research is focused on new less morbid approaches to treatment, in which drugs that target various steps on the biological pathway from pre-cancer to cancer are used, with the aim of preventing the growth of vulvar cancers. This review is an update of the current management of women with advanced vulvar cancer.Vulvar cancer is a rare gynaecological malignancy, accounting for 2–5% of cancers of the female genital tract. Squamous cell carcinoma is the most frequently occurring subtype and, historically, has been a disease of older post-menopausal women, occurring with a background of lichen sclerosus and other epithelial conditions of the vulvar skin that may be associated with well-differentiated vulvar intra-epithelial neoplasia (dVIN). An increase in human papillomavirus (HPV) infections worldwide has led to an increase in vulvar squamous carcinomas in younger women, resulting from HPV-associated high-grade vulvar squamous intra-epithelial lesions (vHSIL). Surgical resection is the gold standard for the treatment of vulvar cancer. However, as approximately 30% of patients present with locally advanced disease, which is either irresectable or will require radical surgical resection, possibly with a stoma, there has been a need to investigate alternative forms of treatment such as chemoradiation and targeted therapies, which may minimise the psychosexual morbidity of radical surgery. This review aims to provide an update on management strategies for women with advanced vulvar cancer. It is hoped that investigation of the molecular biologies of the two different pathways to vulvar squamous cell carcinoma (HPV-associated and non-HPV-associated) will lead to the development of targeted therapeutic agents.

The effect of L-carnitine supplementation on insulin resistance, sex hormone-binding globulin and lipid profile in overweight/obese women with polycystic ovary syndrome: a randomized clinical trial.

Polycystic ovary syndrome (PCOS) is a common endocrine disorder among reproductive-age women. Insulin resistance and dyslipidemia are linked to PCOS. L-Carnitine supplementation as a management strategy for women with PCOS has been proposed. The effect of L-carnitine supplementation on insulin resistance, sex hormone-binding globulin (SHBG) and lipid profile in overweight/obese women with PCOS was investigated. This randomized, double-blind, controlled clinical trial, was conducted on 62overweight/obese women with PCOS. Participants were randomly assigned into two groups to receive 1000mg/day L-carnitine or placebo (1000mg starch) for 12weeks. L-Carnitine supplementation compared to the placebo showed a significant improvement in insulin [- 0.7 (- 7.3 to 4.0) vs. 0.7 (- 3.0 to 5.2); P = 0.001], homeostatic model assessment for insulin resistance [- 0.4 (- 1.7 to 1.1) vs. 0.0 (- 0.7 to 1.3); P = 0.002], quantitative insulin sensitivity check index (+ 0.01 ± 0.02 vs. - 0.01 ± 0.01; P = 0.02) and a non-significant change toward improvement in SHBG (+ 11.5 ± 40.2 vs. - 3.2 ± 40.2; P = 0.2). However, there was no significant differences between the two groups in serum levels of fasting plasma glucose, total cholesterol, triglyceride, low density lipoprotein-cholesterol and high density lipoprotein cholesterol (P > 0.05). 12-week L-carnitine supplementation in overweight or obese women with PCOS ameliorate insulin resistance, but has no effect on SHBG and lipid profile. Studies with higher dosages and duration of L-carnitine intake are required. The trial was registered on 30 December 2019 at Iranian Registry of Clinical Trials IRCT20191016045131N1. Registered on 30th December 2019 at Iranian Registry of Clinical Trials (IRCT20191016045131N1).

Drug delivery strategies for management of women's health issues in the upper genital tract.

The female upper genital tract (UGT) hosts important reproductive organs including the cervix, uterus, fallopian tubes, and ovaries. Several pathologies affect these organ systems such as infections, reproductive issues, structural abnormalities, cancer, and inflammatory diseases that could have significant impact on women's overall health. Effective disease management is constrained by the multifaceted nature of the UGT, complex anatomy and a dynamic physiological environment. Development of drug delivery strategies that can overcome mucosal and safety barriers are needed for effective disease management. This review introduces the anatomy, physiology, and mucosal properties of the UGT and describes drug delivery barriers, advances in drug delivery technologies, and opportunities available for new technologies that target the UGT.

Findings from a multicentre, observational study on reproductive outcomes in women with unexplained recurrent pregnancy loss: the OTTILIA registry.

What evaluation and care is offered to women after unexplained recurrent pregnancy loss (RPL) or intra-uterine foetal death (IUFD) and what are the reproductive outcomes? Women are assessed for thrombophilia and often treated with low-molecular weight heparin (LMWH) and/or low-dose aspirin (ASA). Randomized controlled trials (RCTs) on possible efficacy of heparins and/or aspirin have been inconclusive due to limited power to detect a difference and patient heterogeneity. Prospective multicentre cohort study performed in 12 hospitals in three countries between 2012 and 2019. All consecutive pregnant women with recurrent PL (≥3 losses or 2 losses in the presence of at least one euploid foetal karyotype) or at least one IUFD. Eligible women may have undergone thrombophilia testing before conception, at the discretion of local providers. The possible assignment of women to treatments (such as LMWH) was not decided a priori but was determined based on the responsible provider's current practice. Aims of the study were: (i) to evaluate factors associated with pregnancy outcome; (ii) to compare clinical management strategies in women with and without a subsequent successful pregnancy; and (iii) to evaluate characteristics of women who may benefit from antithrombotic therapy. A propensity score matching method was used to balance the differences in baseline characteristics. A matched sample of 265 pregnant women was analysed, with all undergoing thrombophilia screening; 103 out of 119 (86.6%) with and 98/146 (67.1%) without thrombophilia were prescribed with LMWH and/or ASA. Overall, live-births were recorded in 204 cases (77%), PL or IUFD in 61 (23%) pregnancies. Logistic regression showed a significant interaction between thrombophilia and treatment with LMWH (P = 0.03). Findings from sensitivity analysis showed odds ratio (OR) for pregnancy loss in women with inherited or acquired thrombophilia in absence of any treatment was 2.9 (95% CI, 1.4-6.1); the administration of LMWH (with or without ASA) was associated with higher odds of live-birth (OR, 10.6; 95% CI, 5.0-22.3). Furthermore, in women without thrombophilia, the odds of live-birth was significantly and independently associated with LMWH prophylaxis (alone or in association with ASA) (OR, 3.6; 95% CI, 1.7-7.9). While the propensity score matching allows us to balance the differences in baseline characteristics, it does not eliminate all confounding. Antithrombotic prophylaxis during pregnancy may be effective in women with otherwise unexplained PL or IUFD, and even more useful in those with thrombophilia. The study was funded by Italian Ministry of Health (Ricerca Corrente 2018-2020). Dr G.P. has received research grant support from Bristol Myers Squibb/Pfizer Alliance, Janssen, Boston Scientific Corporation, Bayer, and Portola and consultant fees from Amgen and Agile Therapeutics. Dr E.G. has received consultant fees from Italfarmaco and Sanofi. All other authors declare that they have no conflict of interest. NCT02385461.

Postpartum Psychosis: Risk factors and Management

Following childbirth, with a psychosis and associated mood disturbance, Postpartum Psychosis (PPP) is studied to be a severe mental health condition. PPP affects 1 to 2 per 1000 women among the psychiatric emergency. To curb this severe disorder, acute clinical intervention is warranted. Maternal mental health problems with a focus on depression as the condition with the biggest public health impact should be the way forward. This review is set to look into the risk factors, prevention and management of PPP. Both the acute onset and recurrence of psychiatric illness are common during the perinatal period as women are more vulnerable during this period. Timely detection and effective management of perinatal psychiatric disorders are critical for managing PPP. Part of the management strategies for women who experience PPP is to seek guidance on further pregnancies and risk of illness. Since PPP is a disturbing complication of childbirth that carries high risks for both mother and child, if one is at high risk of developing puerperal psychosis, there is the need for a specialist care during pregnancy and be seen by a psychiatrist.

Assessment of the hormonal levels in different management strategies for women with cervical insufficiency and a history of anovulatory infertility

Cervical insufficiency (CI) is one of the causes of preterm birth. The rate of CI is higher in women after in vitro fertilization treatment for infertility compared to the general population. The aim. To assess the hormonal level in women with CI and a history of anovulatory infertility in the second and third trimesters of pregnancy in different management strategies for CI. Materials and methods. 60 pregnant women with CI who conceived through in vitro fertilization treatment for anovulatory infertility were divided into two groups: in the I group (30 women), CI was corrected only with cervical cerclage / pessary in the II trimester of pregnancy, in the II group (30 persons), cervical cerclage / pessary was combined with vaginal progesterone 200 mg ones a day until 34 full weeks of gestation. 30 pregnant women without СІ or infertility with the physiological course of pregnancy were controls. The concentrations of estradiol, progesterone, placental lactogen, prolactin and cortisol were determined in the terms of 19–22 and 30–32 weeks of gestation in the maternal blood serum. Results. In the patients with CI at 19–22 gestational weeks, the estradiol and placental lactogen concentrations were slightly lower in the I and II groups than those in the control women, the level of progesterone was less in the I group by 13.44 %, in the II group – by 17.30 % (P < 0.05) compared to the controls; the levels of prolactin and cortisol in the I and II groups were increased significantly (P < 0.001). At 30–32 gestational weeks, the levels of estradiol (P < 0.05), progesterone (a decrease of 23.10 %, P < 0.001) and placental lactogen (a decrease of 10.74 %, P < 0.05) were significantly less as compared to the physiological ranges, while these parameters in the II group patients were on the lower limit of normal. In the I group, the concentrations of prolactin and cortisol were higher by 41.70 % (P < 0.001) and 27.36 % (P < 0.001), respectively, than the controls, in the II group – only by 24.10 % (P < 0.05) and 13.70 % (P < 0.05), respectively. Conclusions. In the women with cervical insufficiency after in vitro fertilization treatment for anovulatory infertility, the levels of estradiol, progesterone and placental lactogen are not significantly different from physiological indices, but the prolactin and cortisol concentrations are much higher. Adjunctive vaginal progesterone treatment to cervical cerclage/pessary in the third trimester of pregnancy promotes the normalization of progesterone, estradiol and placental lactogen levels, the decrease in prolactin and cortisol indices at 30–32 gestational weeks compared to the women with cervical cerclage/pessary alone.

The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.

Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disorder with clinical manifestations of bleeding diathesis, multi-organ disease and variable oculocutaneous albinism (OCA). In women, it can cause life-threatening obstetric and gynecological (OB/GYN) bleeding. To summarize OB/GYN presentations, outcomes, and management strategies in women with HPS. Main databases (MEDLINE, EMBASE, Cochrane, PubMed, Web of Science Core Collection and Google Scholar) were searched from inception until June 30, 2020. Case reports/series of women with confirmed HPS. A systematic review using PRISMA guidelines. Methodological quality assessment performed using adapted Newcastle Ottawa scale. A total 29 pregnancies in 15 women and 2 gynecological patients were identified. Heavy menstrual bleeding (HMB), the most common bleeding symptom, was reported in 8/15 (53%) of women. HMB and post-partum hemorrhage (PPH) led to diagnosis of HPS in 5/17 (29%) women. Primary PPH was reported in 12/27 (44%) of viable pregnancies; half were major PPH. In 17 pregnancies with known HPS diagnosis, 9 had hemostatic cover with desmopressin and 8 with platelet transfusion. Major PPH occurred in 3/9 (33%) pregnancies covered with desmopressin compared with none in the platelet group. Diagnosis of HPS should be considered in women with OCA presenting with HMB or PPH. Hemostatic management options include desmopressin and platelet transfusion. Management should be multidisciplinary with close collaboration between OB/GYN and hematology teams.

Aspiration biopsy versus dilatation and curettage for endometrial hyperplasia prior to hysterectomy

BackgroundTo compare the diagnostic accuracy of aspiration biopsy and dilatation and curettage (D&C) in patients diagnosed with endometrial hyperplasia prior to hysterectomy.MethodsWe retrospectively reviewed medical records of 250 patients diagnosed with endometrial hyperplasia by endometrial sampling between July 2003 and March 2020. Endometrial sampling was performed by aspiration biopsy (n = 150) or D&C (n = 100), followed by hysterectomy within 6 months. Pathological findings of hysterectomy specimens of the two groups were compared to preoperative findings.ResultsThe overall diagnostic concordance between endometrial sampling specimen including D&C and aspiration biopsy, and hysterectomy specimen was 51.0% (51/100) and 41.3% (62/150), respectively. Patients whose preoperative specimen was obtained by D&C were upgraded less significantly than those who underwent aspiration biopsy (21.0% vs 36.7%; P = 0.008). In particular, significantly fewer patients were upgraded after D&C than after aspiration biopsy in hyperplasia without atypia (12.5% vs 29.0%; P = 0.028). In addition, when the final pathological upgrade rate to endometrial carcinoma was evaluated between the two methods of endometrial sampling, significantly fewer cases were noted after D&C than after aspiration biopsy (15.0% vs 27.3%; P = 0.022).ConclusionsIn our study, D&C more accurately reflected the final diagnosis in patients with endometrial hyperplasia than aspiration biopsy based on the histological examination of hysterectomy specimens. When considering the management strategy for women with an endometrial hyperplasia diagnosis obtained by aspiration biopsy, physicians should consider the significant rate of upgraded diseases with this method of endometrial sampling.

Primary Postpartum Hemorrhage and Maternal Health-Effects and Outcome

Objective: To assess outcome of different management strategies in women presenting with primary postpartum hemorrhage (PPH). Study Design: Observational, prospective. Settings: Department of Obstetrics & Gynecology Unit-III, Liaquat University of Medical and Health Sciences, Jamshoro Pakistan. Duration: From May 2016 to November 2017. Methodology: Total 50 delivered women fulfilling the inclusion criteria were included in study. All relevant variable like a detailed demographic characteristics, details about labour, symptomatology, general conditions of patient, amount of blood loss, clinical examination, finding such as condition of the uterus, genital tract trauma, retained placenta, uterine inversion. Investigation like complete blood picture blood group, blood sugar, coagulation profile, serum electrolytes, virology status, liver function test, renal function test, ultrasound examination, maternal effects and outcome were recorded on proforma and analyzed by using SPSS. Results: Among 50 women (with primary PPH) included in this study, all were managed medically, in 24 patients medical treatment was unsuccessful so surgical treatment offered. Most common cause identified was uterine atony, however anemia 50(100%).  Hypovolemic shock 5(10%), puerperal sepsis 8(16%), complication of anesthesia 4(8%), blood reactions 6 (12%) were the morbidities observed in present study, 2 patients (4%) died inspite of all measures. Conclusion: It was concluded that best results were obtained with use of AMTSL, combination of more than on medical option and surgical management were equally effective in treating the PPH.

Does Written Informed Consent Comprehensively Inform Surgical Patients and is This Effective in Patient’s Decision-Making?

Background: Informed consent (IC) is first fundamental principal step in health care helps patients to be conscious of consequences of their treatment decisions. The importance of obtaining a valid inform consent before any procedure well established with surgery and it is an important aspect of doctor patient relationship. Objective: To assess outcome of different management strategies in women presenting with primary postpartum hemorrhage (PPH). Study Design: Observational, prospective. Settings: General surgery department of Pakistan Institute of medical Sciences Hospital Islamabad Pakistan. Duration: Five months from March 2019 to July 2019. Methodology: All the patients were asked a set of standard questions, which related to the information they had provided before the operation as a part of standard informed consent practice. The surgeons had taken all the interviews with privacy and confidentiality after postoperatively at the earliest time the patient is comfortable to do so. The questions were asked in the simple languages, which were understandable to patients, so that patients could easily understand and respond to the same. The questionnaire sought information risks/benefits associated with a surgical procedure, alternate treatment options, whether providing additional detailed verbal and/or written information improved their understanding. All the information was recorded via study proforma. Results: Total 183 patients were interviewed post-operatively regarding inform consent and most of them 42.1% were between age 18-40 years. Males were 58.5% and females were 41.5%. Almost all cases had received informed consent, while some said they received just before the surgeries. There were some controversial answers regarding question of oral information influence the decision to proceed to the surgical procedure. Almost all patient had answered that they were informed regarding their conditions, surgical and anesthetic complications prior the surgery. Only 7.7% patient said that the time was not given for the questions and 10.4% patient were unsatisfied regarding informed consent, while the most of the cases were satisfied. Conclusion: In the study observation mostly, patients were satisfied and because mostly surgical consent element is generally understood, but some remained controversial and should consider its importance, beyond risks of the procedures, as well as acceptability and feasibility of intervention to surgical team and patients. Written information has not provided patients with adequate decision-making tools for imminent health matters, so pre-operative oral information also needed to adequate decision-making.

Validation of Spanish version of the human papilloma virus impact profile (HIP)

Objective To examine the construct validity and reliability of the Spanish version of the HPV Impact Profile scale (HIP) among women in Medellin, Colombia. Methods We conducted a nested analysis of data from the pragmatic randomized controlled trial “Evaluation of Strategies for Optimal Clinical Management of Women with Atypical Squamous Cells of Undetermined Significance” (ASCUS-COL; NCT02067468). Women with Atypical Squamous Cells of Undetermined Significance (ASCUS) were randomly assigned to one of three triage strategies (Pap smear, colposcopy, HPV). Participants completed a questionnaire with sociodemographic information and the HIP scale translated into Spanish at baseline, two weeks after receiving triage test results, and one year after the second questionnaire. We conducted exploratory and confirmatory factorial analysis, and then assessed test reliability using Cronbach’s alpha. Subsequently, we conducted multigroup confirmatory factor analysis to assess differences according to women´s age, and configurational invariance of the factor structure over the three time measures. Results The sample consisted of 675 women, with a mean age of 40 years. The exploratory and confirmatory factor analysis for the HIP showed a seven-factor structure with appropriate adjustment indicators (= 1466.783, p < .0001). Only two items (1 and 10) had low factor loads and were removed from the confirmatory analysis. Multigroup analysis according to women’s age showed acceptable goodness of fit (RMSEA = 0.037, CFI/TLI:0.998/0.998). The factor structure was similar among the tree measures and the model preserved acceptable goodness of fit (RMSEA = 0.079, CFI:0.86). The Cronbach’s alpha for the total score was 0.91, with the lowest score for sexual impact (0.49) and the highest score for worries and concerns (0.90). Conclusions The Spanish version of the HIP had adequate reliability and construct validity, and its use could be considered in clinic and research settings.

Abstract PD3-01: Population-based breast cancer risk estimates for predisposition gene mutations: Results from the CARRIERS study

Abstract Germline mutations in several cancer predisposition genes included in hereditary multigene testing panels have been associated with increased breast cancer risk. However, estimates of breast cancer risks for each gene have in large part been derived from studies of high-risk populations enriched for family history of breast and ovarian cancer, young age of breast cancer diagnosis, or founder mutations. The breast cancer risks associated with mutations in many of these genes in the general population remain to be clearly defined. As clinical hereditary cancer genetic testing is already provided to many women at increased risk and may soon be offered to all breast cancer patients, population-based risk estimates associated with predisposition gene mutations will be needed for appropriate clinical management of mutation carriers. The “CAnceR RIsk Estimates Related to Susceptibility” (CARRIERS) consortium of 17 cohort-based case-control, population-based case-control, and family studies focused on estimation of population-based breast cancer risks and penetrance analysis for mutations in known and candidate breast cancer predisposition genes. Germline DNA from 39486 breast cancer cases and 35868 matched controls was subjected to dual bar-coded QIAseq multiplex amplification of 1733 target regions in 37 predisposition genes. Products from sets of 768 samples were pooled and sequenced in each lane of a HiSeq 4000 system. Mutations were called by GATK Haplotype Caller and Verdict. High quality sequence data was obtained for 99.3% of target regions. Here we report on results from 34741 population-based breast cancer cases and 32728 matched unaffected controls. The mean age of breast cancer diagnosis for cases was 61.2 years and mean age for controls was 61.1 years. Overall, 20.9% of cases and 14.3% of controls had a family history of breast cancer. Furthermore, 74.3% of cases and 75.8% of controls were non-Hispanic white, whereas 13.3% of cases and 15.3% of controls were African American. Among cases with tumor information available, 81.7% were ER-positive and 7.7% were triple negative breast cancers (TNBC). We assessed mutation frequencies in 24 genes including 12 established breast cancer predisposition genes (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, andTP53). The overall mutation frequency was 6.2% in cases and 2.7% in controls. Case-control association analysis after adjusting for study, age, family history of breast cancer, and race/ethnicity showed that BRCA1(OR=7.45; 95%CI:5.24-10.95) and BRCA2(OR=5.31; 95%CI:4.15-6.88) were associated with high risks of breast cancer in the general population. However, PALB2mutations were only associated with moderate risks (OR=3.63; 95%CI:2.57-5.26). ATMmutations conferred attenuated risks (OR=1.83; 95%CI:1.47-2.28) relative to studies of high-risk families or young onset breast cancers. NBNmutations were not associated with increased breast cancer risk. Mutations in BARD1, RAD51C, RAD51Dand XRCC2were specifically significantly associated with moderate risks of ER-negative breast cancer and TNBC, whereas mutations in ATM, CDH1and CHEK2were specifically significantly associated with ER-positive disease. On the basis of these findings age-related absolute breast cancer risks for commonly mutated genes were estimated. Overall, results from the CARRIERS study establish that mutations in predisposition genes are associated with lower risks of breast cancer in the general population than in enriched populations including high-risk families and young onset, bilateral, or multiple primary cases. We anticipate that the results from this study will inform cancer screening and other risk management strategies for women in the general population with mutations in predisposition genes. Citation Format: Fergus J Couch, Chunling Hu, Steven N Hart, Rohan Gnanaolivu, Kun Y Lee, Jie Na, Chi Gao, Nicholas J Boddicker, Bruce Eckloff, Raed Samara, Josh Klebba, Christine B Ambrosone, Hoda Anton-Culver, Paul Auer, Leslie Bernstein, Mia M Gaudet, Christopher Haiman, Esther M John, Susan Neuhausen, Janet E Olson, Tuya Pal, Julie R Palmer, Dale P Sandler, Jack A Taylor, Amy Trentham-Dietz, Celine M Vachon, Clarice Weinberg, Song Yao, Jeffrey N Weitzel, David E Goldgar, Susan M Domchek, Katherine L Nathanson, Peter Kraft, Eric C Polley. Population-based breast cancer risk estimates for predisposition gene mutations: Results from the CARRIERS study [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10-14; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2020;80(4 Suppl):Abstract nr PD3-01.

How can we manage patients over forty with endometriosis?

Peri/postmenopausal endometriosis is not as rare as once we thought. Accumulated data revealed that around 1/3-1/4 of women with surgically-diagnosed endometriosis after the age of 40. The uneasiness of the issue of malignant transformation or malignancy in such women created a challenge for us. Here the management strategy for women with endometriosis after the age of 40 is discussed in the light of scientific evidence.

Oncologists' perspectives on adherence/non-adherence to adjuvant endocrine therapy and management strategies in women with breast cancer.

PurposeAdherence to adjuvant endocrine therapy (AET) is suboptimal, and a range of variables have been explored for understanding patients’ experiences and motivations for medication-taking. However, oncologists’ views on adherence are poorly understood. The aim of this study was to explore oncologists’ perspectives on adherence/non-adherence and their strategies to ensure patients continue with treatments to inform the development of potential modifiable interventions.MethodsA qualitative study using in-depth, semi-structured interviews with 16 oncologists was conducted in Argentina. A stratified purposive sampling was used to recruit female and male participants from 3 health subsystems (private, social security, and public). Data were analyzed using the Framework approach.ResultsOncologists believed patients’ adherence was overall high and associated it with good tolerance of AET in comparison to chemotherapy, information provided, and patients feeling reassured (fear of recurrence). Non-adherence was not perceived as a major source of concern, and it was related to rare cases of severe side effects, young age, refusing treatment, losing the insurance plan, lack of education, and social circumstances. Patients’ complaints of bothersome side effects were not identified as a main reason to discontinuation. Public and private sector patients, however, were perceived as having different attitudes toward side effects. Management strategies included medicine change, referral to support services, and a supportive relationship with the oncologist.ConclusionOncologists’ perspectives on adherence/non-adherence to AET show similarities and significant differences with those in the literature based on patient-reported factors. Overall adherence was considered high, but the likelihood of unintentional non-adherence seems important in public sector patients. Information to patients should provide clear explanations on both severe and unpleasant side effects. Interventions to improve communication skills in oncologists and specialists responsible for survivorship care should be considered to strengthen patients’ self-efficacy and effective medication-taking. Reliable data on adherence are needed.

Abstract 4169: Population-based breast cancer risk estimates associated with cancer predisposition gene mutations from 32,298 breast cancer patients and 31,869 matched unaffected controls from the CARRIERS study

Abstract Clinical germline genetic testing of cancer predisposition gene panels is used to identify women at increased risk for breast cancer. Pathogenic mutations in cancer predisposition genes are associated with established risks of breast cancer and are actively used for risk management of breast cancer for women qualifying for genetic testing because of a family history of breast and/or ovarian cancer or young age of diagnosis. However, the risks of breast cancer associated with mutations in these genes have likely been overestimated for many women in the general population. The goal of the “CAnceR RIsk Estimates Related to Susceptibility” (CARRIERS) study was to estimate breast cancer risks associated with mutations in hereditary cancer panel genes. Germline DNA from 32,298 breast cancer patients and 31,869 matched unaffected controls enrolled in cohorts and population-based case-control studies were sequenced to identify pathogenic mutations in 37 cancer predisposition genes.The average age at diagnosis was 61.2 years and the average age of last follow-up was 62.1 years. DNA was subjected to dual bar-coded QIAseq multiplex PCR-based amplification of 1733 target regions in 37 predisposition genes. Products from 768 samples were pooled and sequenced in a single lane of a HiSeq 4000 system. Mutations were called by GATK Haplotype Caller and Vardict.High quality sequence data was obtained for 99.3% of target regions. Pathogenic mutations in 12 known breast cancer predisposition genes were identified in 6.2% of all breast cancer cases and 2.1% of controls; and in 6.7% of African American breast cancer cases and 1.8% of controls. In case-control association analyses adjusted for age at diagnosis or last follow up and family history of breast and ovarian cancer, mutations in BRCA1, BRCA2, and PALB2 were associated with high risks of breast cancer (odds ratio (OR)&amp;gt;4.0). Mutations in CHEK2 and BARD1 were associated with moderate risks of breast cancer (OR&amp;gt;2.0), whereas mutations in ATM had lower clinical relevance (OR=1.6). Stratification by ER, PR, and HER2 status of tumors found that BRCA1, BRCA2, PALB2 and TP53 were associated with high risks of studies of triple negative breast cancer (TNBC), and that BARD1, BRIP1, FANCM, and RAD51C were associated with moderate risks of TNBC. Overall, results from the CARRIERS study establish that mutations in predisposition genes are associated with lower risks of breast cancer in the general population than in high-risk families. The age-related estimates of breast cancer risk for each of the hereditary cancer panel genes in this study may inform on the use of cancer screening and other risk management strategies for women in the general population with mutations in predisposition genes. Citation Format: Fergus J. Couch, Chunling Hu, Steven N. Hart, Rohan Gnanaolivu, Jenna Lilyquist, Kun Y. Lee, Chi Gao, Bruce Eckloff, Hoda Anton-Culver, Paul Auer, Leslie Bernstein, Mia Gaudet, Christopher Haiman, Julie Palmer, Amy Tentham-Dietz, Song Yao, Susan Domchek, Jeffrey N. Weitzel, David E. Goldgar, Katherine L. Nathanson, Peter Kraft, Eric C. Polley. Population-based breast cancer risk estimates associated with cancer predisposition gene mutations from 32,298 breast cancer patients and 31,869 matched unaffected controls from the CARRIERS study [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 4169.