Bladder metastasis from inflammatory breast cancer presenting with hematuria and hydronephrosis.

We report a rare case of a 56-year-old Ukrainian female with inflammatory breast cancer (IBC) who underwent neoadjuvant chemoradiation and left radical mastectomy with her clinical course complicated by disease recurrence with bone and bladder metastases 2.5 years after her initial diagnosis. We highlight the presentation and diagnosis of genitourinary involvement of metastatic IBC, which has not previously been described in the literature.

Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing.

OBJECTIVE: There are concerns regarding the potential harms in receipt of prenatal chromosome microarray (CMA) results, particularly variants of uncertain significance (VUS). We examined the influence that the return of genomic results had on parental well-being and perceptions of children's development. METHODS: Parents (n = 138) of 83 children who underwent prenatal chromosomal microarray testing completed questionnaires assessing perception of children's development, parent-child attachment, parental mood, parenting competence, martial satisfaction, satisfaction with the decision to undergo testing, and attitudes about genetics at age 12 and/or 36 months. Responses were compared between parents who received normal/likely benign results and VUS results. RESULTS: Compared to normal/likely benign results, parents who received VUS results rated their child as less competent on the BITSEA scale at 12 (ß = -1.65, P = .04) though not 36 months (P = .43). There were no differences in parent mood, marital satisfaction, or parenting competence. At 36 months, parents in the VUS group reported less satisfaction with their decision to undergo genetic testing (ß = 1.51, P = .02). CONCLUSION: Chromosome microarray VUS results have limited impact on parental well-being and perception of children's development. However, the initial diminished perception of child competency and later dissatisfaction with genomic testing indicate the need to assist parents in coping with ambiguous results.

Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study.

The impact of returning secondary results from exome sequencing (ES) on patients/participants is important to understand as ES is increasingly utilized in clinical care and research. Participants were recruited from studies using ES and were separated into two arms: 107 who had ES and were offered the choice to learn secondary results (ES group) and 85 who had not yet had ES (No ES group). Questionnaires were administered at baseline and 1 and 12 months, following results disclosure (ES group) or enrollment (No ES group). While the majority (65%) elected to learn all results following pre-test counseling, it was reduced from the 76% who indicated a desire for all results at baseline. Thirty-seven percent received results associated with an increased personal disease risk. There were no differences in changes in any of the psychological and social measures from baseline to post-results disclosure between the ES and No ES groups. Receiving a wide range of secondary findings appeared to have little measurable impact on most participants. The experience of learning secondary results may be related to participants' previous experiences with genetics, as well as the genetic counseling provided. Future research with a more diverse, genetically naïve group, as well as scalable methods of delivery, is needed.

Characterizing the biofilm of artificial urinary sphincters (AUS).

Background: There is a paucity of data regarding the bacterial colonization on artificial urinary sphincter (AUS) devices following revision surgery. We aim to evaluate the microbial compositions of explanted AUS devices identified on standard culture at our institution. Methods: Twenty-three AUS devices explanted were included in this study. During revision surgery, aerobic and anaerobic culture swabs are taken from the implant, capsule, fluid surrounding the device, and biofilm, if present. Culture specimens are sent to the hospital laboratory for routine culture evaluation immediately upon case completion. Differences in number of microorganism species detected across samples (richness) against demographic variables were determined through backwards selection of all variables using analysis of variance (ANOVA). We assessed the prevalence (how many times each species occurred) of microbial culture species. Statistical analyses were performed using the statistical package in R (version 4.2.1). Results: Cultures reported positive results in 20 (87%) cases. Coagulase-negative staphylococci were the most commonly identified bacteria among explanted AUS devices (n=16, 80%). Among two of the four infected/eroded implants, more virulent organisms such as Escherichia coli and fungal species such as Candida albicans were identified. The mean number of species identified amongst culture positive devices was 2.15±0.49. The number of unique bacteria identified per sample was not significantly associated with demographic variables including race, ethnicity, age at revision, smoking history, duration of implantation, etiology for explantation, and concomitant medical comorbidities. Conclusions: The majority of AUS devices removed for non-infectious reasons harbor organisms on traditional culture at the time of explantation. The most commonly identified bacteria in this setting is coagulase-negative staphylococci, which may be a result of bacterial colonization introduced at the time of implant. Conversely, infected implants may harbor microorganisms with higher virulence including fungal elements. Bacterial colonization or biofilm formation on implants may not necessarily equate to clinically infected devices. Future studies with more sophisticated technology, such as next-generation sequencing or extended cultures, may evaluate microbial compositions of biofilm at a more granular level to understand its role in device infections.

Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education.

PURPOSE: We developed a web-based education intervention as an alternative to predisclosure education with a genetic counselor (GC) to reduce participant burden and provider costs with return of genetic research results. METHODS: Women at three sites who participated in 11 gene discovery research studies were contacted to consider receiving cancer genetic research results. Participants could complete predisclosure education through web education or with a GC. Outcomes included uptake of research results, factors associated with uptake, and patient-reported outcomes. RESULTS: Of 819 participants, 178 actively (21.7%) and 167 passively (20.4%) declined return of results; 474 (57.9%) were enrolled. Most (60.3%) received results although this was lower than the 70% uptake we hypothesized. Passive and active decliners were more likely to be Black, to have less education, and to have not received phone follow-up after the invitation letter. Most participants selected web education (88.5%) as an alternative to speaking with a GC, but some did not complete or receive results. Knowledge increased significantly from baseline to other time points with no significant differences between those who received web versus GC education. There were no significant increases in distress between web and GC education. CONCLUSION: Interest in web-based predisclosure education for return of genetic research results was high although it did not increase uptake of results. We found no negative patient-reported outcomes with web education, suggesting that it is a viable alternative delivery model for reducing burdens and costs of returning genetic research results. Attention to attrition and lower uptake of results among Black participants and those with less formal education are important areas for future research.

Genitourinary and Sexual Symptoms and Treatments in Transfeminine Individuals: A Qualitative Exploration of Patients' Needs.

INTRODUCTION: Medical providers may not be familiar with the genitourinary and sexual symptoms of transgender and non-binary (TGNB) individuals. This lack of familiarity may hinder a provider's ability to address these issues as patients may hesitate to report symptoms due to fear of stigma, misgendering, and being treated disrespectfully. AIM: To describe the array of genitourinary and sexual symptoms in transfeminine individuals. METHODS: Upon institutional review board approval, researchers used semi-structured interviews with 25 transfeminine individuals assigned male at birth to explore urinary and sexual symptoms on a sample of convenience. Participants were recruited and interviews were conducted until saturation was achieved. Two research assistants independently coded all de-identified transcripts and resolved discrepancies. OUTCOMES: Thematic codes pertaining to genitourinary and sexual symptoms were defined and assessed in this study. RESULTS: Some genitourinary symptoms unrelated to hormone therapy or genital gender-affirming surgery (GGAS) included frequency, urgency, nocturia, and incontinence, while those attributed to GGAS included slow stream, spraying, and retention. Sexual symptoms unrelated to hormone therapy or GGAS included sexually transmitted infections, erectile dysfunction, and low libido. Sexual symptoms related to GGAS included delayed ejaculation, penile pain, scar tissue pain, and pain with receptive vaginal penetration. CLINICAL IMPLICATIONS: Increased provider awareness of and accountability for the treatment of genital and sexual symptoms of transfeminine individuals. STRENGTHS AND LIMITATIONS: Open-ended questions were used to generate a range of responses and perspectives through conversation instead of quantifiable data. Findings are not applicable to all TGNB people since participants were limited to transfeminine adults assigned male at birth only. Recruitment was limited by the sensitive nature of the topic and hard-to-reach populations and relied on convenience through flyers and a chain-referral sampling approach. CONCLUSION: Transfeminine individuals experience a wide array of genitourinary and sexual symptoms both similar and different to their cis gender counterparts. Chung PH, Swaminathan V, Spigner S, et al. Genitourinary and Sexual Symptoms and Treatments in Transfeminine Individuals: A Qualitative Exploration of Patients' Needs. Sex Med 2022;10:100566.