Concerns and expectations in women with polycystic ovary syndrome vary across age and ethnicity: findings from PCOS Pearls Study

ObjectiveTo understand and explore the perceptions and opinions of women with polycystic ovary syndrome (PCOS) and further delineate the variations across age and ethnicity.DesignQualitative survey focussed on lived experiences of people with PCOS. Participants could share their views either as written text or as voice note audio recording(s) on WhatsApp. The data from the audio were transcribed verbatim. Responses were coded by two study members independently, using a thematic inductive method with NVivo 12. Two senior study members then reviewed these codes to identify common themes.SubjectsWomen with PCOS aged 18-60 years.Results43 of 45 participants had a formal diagnosis of PCOS, the remaining two had suspected PCOS which was under investigation. Four participants opted to share their views as voice note recordings. Poor mental health was the most reported (83.3% of participants), followed by dermatological (81.0%) and menstrual issues (76.2%). Participants were generally dissatisfied with the care they received (88.1%). A lengthy diagnostic journey was reported in 35.7% of cases. 52.6% felt less feminine, particularly regarding weight gain and infertility. As part of the recommendations by participants, it was emphasised that others with the condition should educate themselves and be proactive in their management. 46.3% reported that being more enlightened regarding their condition improved their health outcomes and enabled them to advocate for their own care. Women in their 20s expressed distress due to poor mental health, needing a longer time to get the diagnosis, and having weight and eating concerns. While women with PCOS in their 30s discussed their menstrual irregularities and fertility issues, those in their 40s expressed their concerns about the societal expectations of women when diagnosed with PCOS. The concerns varied across ethnicities as well.ConclusionPCOS has wide-ranging consequences for women living with the condition, with many dissatisfied with the clinical support they currently receive. The concerns and expectations vary across ages and ethnicities. Therefore, we propose involving women with PCOS to co-create clinical and educational resources informed by lived experiences to provide end-user-informed services

Reducing the Gap in Knowledge and Expectations between Clinicians and People with Polycystic Ovary Syndrome or Adrenal Conditions:Simulation via Instant Messaging—Birmingham Advance: Patient and Public Involvement (SIMBA-PPI) Study

Background: To evaluate the efficacy of SIMBA as an educational intervention for both HCPs and people with either PCOS or adrenal conditions and to study the change in knowledge of people with PCOS or adrenal conditions about the conditions and expectations from the HCPs involved in their care following SIMBA-PPI sessions. Methods: Two SIMBA-PPI sessions (SIMBA-PPI Polycystic ovary syndrome (SIMBA-PCOS) and SIMBA-PPI Adrenal conditions (SIMBA-Adrenal conditions)) were conducted in September 2021 and March 2022. In both sessions, HCPs interacted with moderators on patient management through WhatsApp. Patients with respective conditions underwent workshop-style learning in the same cases. SIMBA-PCOS transcripts were also translated into Brazilian Portuguese and workshops were held in both Brazilian Portuguese and English. The two groups (HCPs and patients) were then brought together to discuss exploring gaps in knowledge and expectations. The Wilcoxon Signed-Rank test compared differences in pre- and post-SIMBA self-reported confidence levels in HCPs and patients. Qualitative data from the online recordings were transcribed and analysed with inductive thematic analysis to identify gaps in knowledge and expectations from managing the cases. Results: 48 HCPs and 25 patients participated in our study. When compared to pre-SIMBA confidence levels, SIMBA-PPI sessions effectively improved clinicians’ confidence in managing PCOS (40.5%, p < .001) and adrenal conditions (23.0%, p < .001) post-SIMBA. Patient participants’ confidence in HCPs significantly increased in the PCOS session (SIMBA-PCOS: 6.25%, p = 0.01). Conclusions: Integration of PPI into SIMBA improved HCPs' confidence in managing PCOS and adrenal conditions. SIMBA-PPI also improved patients’ confidence in HCPs. Our findings suggest that participating in SIMBA-PPI sessions can reduce the gap in knowledge and expectations between patients and HCPs involved in their care

Genetic predisposition to in situ and invasive lobular carcinoma of the breast.

Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses identified a lobular-specific SNP at 7q34 (rs11977670, OR (95%CI) for ILC = 1.13 (1.09-1.18), P = 6.0 × 10(-10); P-het for ILC vs IDC ER+ tumors = 1.8 × 10(-4)). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at P<0.05. Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het = 0.04 and rs889312/5q11/MAP3K1, P-het = 0.03); and two showed stronger associations for LCIS than ILC (rs6678914/1q32/LGR6, P-het = 0.001 and rs1752911/6q14, P-het = 0.04). In addition, seven of the 75 known loci showed significant differences between ER+ tumors with IDC and ILC histology, three of these showing stronger associations for ILC (rs11249433/1p11, rs2981579/10q26/FGFR2 and rs10995190/10q21/ZNF365) and four associated only with IDC (5p12/rs10941679; rs2588809/14q24/RAD51L1, rs6472903/8q21 and rs1550623/2q31/CDCA7). In conclusion, we have identified one novel lobular breast cancer specific predisposition polymorphism at 7q34, and shown for the first time that common breast cancer polymorphisms predispose to LCIS. We have shown that many of the ER+ breast cancer predisposition loci also predispose to ILC, although there is some heterogeneity between ER+ lobular and ER+ IDC tumors. These data provide evidence for overlapping, but distinct etiological pathways within ER+ breast cancer between morphological subtypes

Participation in the RACS sentinel node biopsy versus axillary clearance trial

Background: The Royal Australasian College of Surgeons (RACS) SNAC trial is a randomized controlled trial of sentinel node biopsy (SNB) versus axillary clearance (AC). It opened in May 2001 and is recruiting rapidly with good acceptance by consumers. Methods: A study of eligibility and treatment choices was conducted between November 2001 and September 2002 for women presenting with early breast cancer to 10 centres participating in the trial. Results: More than half of the 622 women (54%) were ineligible for trial entry because they had large (> 3 cm) or multicentric cancers. Participation was offered to 92% of eligible women and was taken up by 63%. The commonest reason for not participating was the desire to choose treatment rather than have it randomly allocated. Despite this there is a great acceptance of clinical trials because very few women (4% of those eligible) gave ‘lack of interest in clinical trials’ as the reason for non-participation. Few women who declined trial participation chose to have SNB alone (4.5% of those eligible). Conclusion: Sentinel node biopsy may become the standard of care for managing small breast cancers, but a significant number of patients will still require or choose axillary dissection. Results from large randomized trials are needed to determine the relative benefits and harms of SNB compared with AC. Surgeons must carefully discuss options for management with their patients.Neil R Wetzig, P. Grantley Gill, Owen Ung, John Collins, James Kollias, David Gillett, Val Gebski, Caroline Greig, Adam Ray and Martin Stockler for the RACS SNAC Group (2005) Participation in the RACS Sentinel Node Biopsy Versus Axillary Clearance Tria