Citations

Purpose of review Endometriosis is a complex benign gynaecologic condition with heterogenous presentations and a large impact on the global healthcare system and on the quality of life for millions of women. Currently, the gold standard for diagnosis involves direct visualization of lesions during surgery confirmed by histopathological diagnosis, resulting in an average delay in its initial diagnosis of 8–10 years. Therefore, the search for noninvasive diagnostic testing options has been subject to a large body of research. Recent findings Multiple potential biomarkers have been explored for noninvasive testing for endometriosis, including glycoproteins, inflammatory cytokines, immunological molecules, angiogenesis markers, hormones, micro RNAs (miRNAs), proteomics, metabolomics, genomics and the microbiome. Summary Although there are challenges to consider, areas for real promise and advancement in the noninvasive diagnosis of endometriosis are currently being explored with real promise in the area of miRNAs, proteomics, metabolomics, genomics and the microbiome.

INTRODUCTION: Emergencies during gynecologic office procedures are uncommon. However, knowledge in management of these complications is essential as more gynecologic procedures move from the operating room to the office. Our goal was to develop an interactive curriculum to address a gap in residency training in the management of office-based procedural emergencies. METHODS: A curriculum including management of unanticipated bleeding, anaphylaxis, vasovagal response, and local anesthetic systemic toxicity (LAST) was developed and implemented using a combination of simulated patient sessions, a “choose-your-own-adventure” PowerPoint, and a mock oral board session. Pre and post intervention surveys queried participants’ confidence in recognition and management. The curriculum was delivered as in-person simulation sessions or virtual sessions due to COVID restrictions. Institutional review board (IRB) approval was obtained. Mean pre and post intervention scores were compared using paired t-test. RESULTS: Four accredited obstetrics and gynecology residency programs participated. Twenty-nine trainees completed the curriculum, and 24 submitted pre and post surveys (82.8% response rate). There was significant improvement in confidence scores for management of unanticipated bleeding (mean difference 0.96, P<.001), anaphylaxis (mean difference 1.7, P<.001), vasovagal response (mean difference 1.0, P<.001), and LAST (mean difference 2.5, P<.001). Additionally, significant improvement in confidence scores for identification of risk factors and signs/symptoms of vasovagal response (mean difference 0.96, P<.001, and 0.46, P=.005) and LAST (mean difference 2.3, P<.001, and 2.2, P<.001) was noted. CONCLUSION: Implementation of an office emergencies curriculum significantly increased confidence in identification and management of unanticipated bleeding, anaphylaxis, vasovagal response, and LAST. Future studies evaluating knowledge-based assessments of learners are needed.

INTRODUCTION: Nonrelaxing pelvic floor dysfunction (PFD) is a condition characterized by tension of the pelvic floor musculature, often resulting in pelvic pain. The objective of this study was to review patient-reported pain outcomes following treatment of nonrelaxing pelvic floor dysfunction to identify gaps in current evidence. METHODS: A systematic review of the following databases from inception to July 2020 was performed: Ovid MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, and Scopus. Two authors reviewed titles and abstracts for relevance, and full articles were obtained and evaluated for inclusion. Studies were included if they assess interventions for nonrelaxing PFD characterized by pelvic pain. The third author was consulted in instances of disagreement. RESULTS: Of the 1,184 abstracts identified and reviewed, 36 full text articles were reviewed. Treatments for nonrelaxing PFD included biofeedback, botulinum toxin injections, electrical stimulation, intravaginal diazepam, massage, osteopathy, psychiatric interview, physical therapy, sacral nerve stimulation, trigger point injection, and combined therapies. Nineteen studies assessed the effectiveness of treatment based on patient reported pain outcomes. All studies demonstrated an improvement in pelvic pain. Several limitations were identified including varied pre-treatment diagnostic evaluation, small sample size, retrospective and single arm design, heterogeneity in treatment administration within and between studies, lack of standardized pain assessments, and limited long term outcome data. CONCLUSION: Nonrelaxing PFD is a debilitating condition. There is a paucity of high-quality clinical trials evaluating the effectiveness of pelvic floor muscle dysfunction treatments. Although preliminary studies support multi-modal treatment options, robust trials assessing patient-centered outcomes are necessary.

INTRODUCTION: While rare, emergencies encountered during office procedures have the potential for significant morbidity if the team is caught unprepared. The aim of this study was to evaluate current availability of and needs for training in office emergencies in residency programs in the United States. METHODS: This was a cross-sectional survey of residents from accredited obstetrics and gynecology residency programs. Identified programs were those with representation in the American College of Obstetricians and Gynecologists Simulation Working Group (ACOG SWG). A multi-item instrument was developed, designed, and edited by representatives of the ACOG SWG for accuracy and content validity. Participants were asked to rate their level of agreement with statements on importance of training in the recognition and management of obstetrics and gynecology emergencies and their confidence in management of those emergencies. Specific emergencies encountered in the office, gynecologic surgery, and obstetrics were queried. RESULTS: Six programs participated for a total of 116 residents and a response rate of 62% (116/188). Most residents agreed office emergency (97.5%) and obstetric emergency training (94.8%) were important in residency training. While 65.5% were confident in managing a vasovagal episode in the office, 0.9% were confident in managing lidocaine toxicity. In contrast, the majority of residents felt confident in obstetric emergency management across all listed emergencies (hemorrhage, cord prolapse, shoulder dystocia, eclampsia). CONCLUSION: While rated as important to residency training, significant gaps exist within resident preparation for identification and management of office-based emergencies, providing an opportunity for curriculum development and education.

Abstract Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are associated with familial hemiplegic migraine type 3. Novel SCN1A-related phenotypes have been described including early infantile developmental and epileptic encephalopathy with movement disorder, and more recently neonatal presentations with arthrogryposis. Here we describe the clinical, genetic and functional evaluation of affected individuals. Thirty-five patients were ascertained via an international collaborative network using a structured clinical questionnaire and from the literature. We performed whole-cell voltage-clamp electrophysiological recordings comparing sodium channels containing wild-type versus variant NaV1.1 subunits. Findings were related to Dravet syndrome and familial hemiplegic migraine type 3 variants. We identified three distinct clinical presentations differing by age at onset and presence of arthrogryposis and/or movement disorder. The most severely affected infants (n = 13) presented with congenital arthrogryposis, neonatal onset epilepsy in the first 3 days of life, tonic seizures and apnoeas, accompanied by a significant movement disorder and profound intellectual disability. Twenty-one patients presented later, between 2 weeks and 3 months of age, with a severe early infantile developmental and epileptic encephalopathy and a movement disorder. One patient presented after 3 months with developmental and epileptic encephalopathy only. Associated SCN1A variants cluster in regions of channel inactivation associated with gain of function, different to Dravet syndrome variants (odds ratio = 17.8; confidence interval = 5.4–69.3; P = 1.3 × 10−7). Functional studies of both epilepsy and familial hemiplegic migraine type 3 variants reveal alterations of gating properties in keeping with neuronal hyperexcitability. While epilepsy variants result in a moderate increase in action current amplitude consistent with mild gain of function, familial hemiplegic migraine type 3 variants induce a larger effect on gating properties, in particular the increase of persistent current, resulting in a large increase of action current amplitude, consistent with stronger gain of function. Clinically, 13 out of 16 (81%) gain of function variants were associated with a reduction in seizures in response to sodium channel blocker treatment (carbamazepine, oxcarbazepine, phenytoin, lamotrigine or lacosamide) without evidence of symptom exacerbation. Our study expands the spectrum of gain of function SCN1A-related epilepsy phenotypes, defines key clinical features, provides novel insights into the underlying disease mechanisms between SCN1A-related epilepsy and familial hemiplegic migraine type 3, and identifies sodium channel blockers as potentially efficacious therapies. Gain of function disease should be considered in early onset epilepsies with a pathogenic SCN1A variant and non-Dravet syndrome phenotype.

The effects of the COVID-19 pandemic on the healthcare system have been widespread, with many institutions in the United States pausing elective procedures to redirect resources to critical care. Fertility care and assisted reproductive procedures were classified as elective procedures and similarly paused. We conducted qualitative interviews with patients and/or their partners ( n = 25 female patients; n = 3 male partners) receiving care at a fertility clinic in the Midwest to understand patient appraisal of COVID-19 risk on the resumption of care following a month-long closure of an infertility clinic, and patient agreement with the clinic closure. Interview transcripts were thematically analyzed from a grounded theory approach. Study participants reported an increased sense of urgency due to the delay in fertility procedures. This urgency often superseded concerns of potential COVID-19 infection, motivating patients to continue fertility treatment during a pandemic. In hindsight, some participants did not agree with the clinic's closure and treatment cessation, feeling that these steps negatively interrupted time-sensitive reproductive goals. Patient responses highlight the need for additional resources to support decision-making during times of crisis. Triaging patients based on time-sensitivity of treatment instead of a total shutdown respects patient autonomy for continuing treatment amidst uncertain COVID-19-impact.

Objective: To determine if gastrointestinal (GI) symptoms can predict deep endometriosis (DE) of the posterior pelvic compartment on magnetic resonance imaging (MRI). Methods: Patients with suspected endometriosis undergoing endometriosis protocol MRI at an academic center between 9/1/2015 and 7/31/2018 were identified. Presenting GI symptoms were collected via a standardized survey instrument prospectively at initial presentation. MRI and interdisciplinary conference notes were reviewed to identify posterior compartment DE (rectosigmoid, uterosacral ligaments, posterior cul de sac, and pelvic side walls). Associations between symptoms and DE were evaluated. Results: A total of 104 patients met inclusion criteria, and 89 (85.6%) presented with at least one GI symptom. Posterior compartment DE was identified on MRI in 47 patients (45.2%). The GI symptom that most strongly predicted DE was a bowel movement resulting in pain relief (OR 3.36, 95% CI 1.31–8.61, p = 0.012), with sensitivity, specificity, positive and negative predictive values 0.42, 0.82, 0.67, and 0.63, respectively. Other GI symptoms such as nausea, vomiting, rectal bleeding, change in frequency of bowel movements, and pain exacerbation by bowel movements did not significantly correlate to having DE. Of the 15 patients with no GI symptoms, 5 were found to have posterior compartment DE. Conclusion: In patients with suspected endometriosis, those who noted that bowel movements relieved their pain had more than three times the odds of having DE of the posterior compartment on MRI. Preoperative evaluation with MRI may be of value in these patients; however, lack of gastrointestinal symptoms does not exclude the possibility of posterior compartment DE.

Objective: To determine the clinical characteristics and prior medical and surgical treatments in women undergoing surgical excision of endometriosis for pelvic pain at a single institution. Methods: In this retrospective cohort study we identified 140 women with pathology-proven endometriosis who completed a preoperative standardized pain form and underwent surgery at an endometriosis center. Women were stratified into three groups for analysis: no prior surgery, 1 prior surgery, and 2+ prior surgeries. Results: The most common treatments used prior to seeking care were hormonal contraceptives (51.6%) and surgery (46.1%). More than half of women were diagnosed with pelvic floor dysfunction at time of presentation or prior to consultation. There was a significant relationship between an increasing number of surgeries (none vs 1 vs 2+) and gonadotropin-releasing hormone (GnRH) agonist use (19.0% vs 27.5% vs 56.0%, p = 0.003). Though not significant, a trend was noted between increasing surgeries and opioid use (20.6% vs 30.0% vs 40.0%, p = 0.17). There was a statistically significant relationship between multiple surgeries and illicit drug use ( p < 0.001). Conclusion: Patients with pelvic pain and endometriosis who have undergone multiple surgeries are more likely to have used GnRH agonists and report illicit drug use prior to presenting to specialized care.

Rapid ethnography and data mining approaches have been used individually to study clinical workflows, but have seldom been used together to overcome the limitations inherent in either type of method. For rapid ethnography, how reliable are the findings drawn from small samples? For data mining, how accurate are the discoveries drawn from automatic analysis of big data, when compared with observable data? This paper explores the combined use of rapid ethnography and process mining, aka ethno-mining, to study and compare metrics of a typical clinical documentation task, vital signs charting. The task was performed with different electronic health records (EHRs) used in three different hospital sites. The individual methods revealed substantial discrepancies in task duration between sites. Specifically, means of 159.6(78.55), 38.2(34.9), and 431.3(283.04) seconds were captured with rapid ethnography. When process mining was used, means of 518.6(3,808), 345.5(660.6), and 119.74(210.3) seconds were found. When ethno-mining was applied instead, outliers could be identified, explained and removed. Without outliers, mean task duration was similar between sites (78.1(66.7), 72.5(78.5), and 71.7(75) seconds). Results from this work suggest that integrating rapid ethnography and data mining into a single process may provide more meaningful results than a siloed approach when studying of workflow.