Faculty Bibliography

In 2024, the International Anal Neoplasia Society (IANS) published the first consensus guidelines for anal cancer screening, outlining recommendations for patients who are most impacted by anal cancer. This study assesses provider knowledge and practice of these guidelines. A 37-item cross-sectional survey was distributed electronically to physicians, nurse practitioners, and physician assistants across ten specialties within a single health system. The survey assessed familiarity with anal cytology, guideline knowledge, screening practices, and barriers to screening. Descriptive statistics and bivariate analyses compared primary care providers (PCPs) to subspecialists. 87 providers completed the survey (62% physicians, 21% nurse practitioners, 17% physician assistants); 60% were Primary Care Physicians (PCPs) and 40% subspecialists. 55% had never heard of the IANS guidelines, and 76% had never performed an anal Pap test. Among the 70 providers completing the knowledge assessment, the median score was 10/20 (Inter Quartile Range (IQR) 8-12). Providers performed worst when identifying screening recommendations for solid organ transplant recipients (7% correct) and cisgender women with HIV (13% correct). No significant differences were found between PCPs and subspecialists across any measure. Qualitative responses identified scope of practice uncertainty (78%), lack of training (20%), and limited access to high-resolution anoscopy (9%) as primary barriers. Provider knowledge and utilization of anal cancer screening guidelines remain critically low across specialties. These findings highlight the urgent need for institution-wide education, standardized ordering pathways, and clear referral processes to improve screening rates.

INTRODUCTION/UNASSIGNED:To develop and validate a single-nucleotide polymorphism (SNP)-based noninvasive prenatal cell-free DNA (cfDNA) screening algorithm capable of identifying the cfDNA signal of the living fetus in vanishing twin (VT) pregnancies and assessing that twin's aneuploidy risk. METHODS/UNASSIGNED:Prospective study enrolling participants ≥18 years old at ≥9 weeks' gestation with an ultrasound-confirmed VT at 21 US sites (August 2021 to August 2023). The study protocol specified SNP-based cfDNA screening at enrollment and at two additional 3-week intervals. Neonatal buccal swabs evaluated the SNP profile of the living fetus. Cases lost to follow-up and with missing samples were excluded. Using SNP-based technology, an algorithm to identify the living fetus was developed based on the number of fetoplacental cfDNA signals and individual fetal fraction measurements. Concordance between cfDNA in maternal plasma and newborn buccal-swab SNP profiles was used to validate the algorithm in correctly identifying the living fetus. Common aneuploidies and fetal sex were determined for the living fetus. RESULTS/UNASSIGNED:Of 136 participants enrolled, 106 met criteria for the final analysis; 45 for development and 61 for validation. In the validation cohort, median gestational age was 10.7 weeks (range: 8.0-16.1 weeks) at ultrasound diagnosis of a VT. In 93.4% of validation cases, the algorithm identified the living fetus and gave an aneuploidy result; 90.2% within the first two blood draws. At the time the living fetus was identified, 39 samples had two fetoplacental signals and 18 had one. Aneuploidy results included 56 low-risk and one high-risk result for trisomy 21. Neonatal buccal swabs confirmed that the VT algorithm correctly identified the living twin and gave a correct aneuploidy result in 57/57 cases (100%; 95% confidence interval [CI]: 93.5%, 100.0%). Among 29 participants with all three blood draws and two fetoplacental signals at enrollment, two signals persisted in 93.1% at the second blood draw and 72.4% at the third. CONCLUSIONS/UNASSIGNED:The SNP-based algorithm accurately identified the living fetus in VT pregnancies in this small study. Aneuploidy risk assessment was validated in all cases where the cfDNA signal for the living twin was identified, though these findings should be interpreted with caution given the limited sample size. TRIAL REGISTRATION/UNASSIGNED:ClinicalTrials.gov Identifier: NCT05004337.

OBJECTIVES/OBJECTIVE:To determine whether integrating an artificial intelligence (AI) decision-support system (VivoAID) into optical coherence tomography (OCT) interpretation improves diagnostic accuracy and efficiency for novice users evaluating basal cell carcinomas (BCCs). METHODS:Two dermatology research fellows completed a structured OCT training module for BCC identification using the VivoSight Dx system. Each independently reviewed 45 de-identified OCT scans (31 BCC-positive and 14 BCC-negative, negative ones included squamous cell carcinomas, keratoacanthomas, actinic keratoses and scar tissue), with ground truth established by expert clinical interpretation and histopathology, in two sessions: one unassisted and one AI-assisted. Session order was counterbalanced between learners, and scans were re-randomized for AI sessions. In unassisted sessions, learners manually classified scans; in AI-assisted sessions, they reviewed AI-annotated scans, recorded agreement/disagreement, and noted additional findings. Time-to-decision per scan was measured. A linear mixed-effects model in SAS assessed the effect of AI on decision time while accounting for scan difficulty. RESULTS:Without AI, correct BCC identification was 62% for Learner 1% and 64% for Learner 2 (combined 63%). With AI assistance, accuracy increased to 78% and 76%, respectively (combined 77%), reflecting relative improvements of 25% and 17% (combined +21%). Mean decision time decreased from 45 to 28 s for Learner 1 and from 35 to 22 s for Learner 2, yielding a combined reduction from 40 to 25 s (~38% faster). AI use significantly reduced decision time by an average of 15.1 s per image (p < 0.0001). AI standalone accuracy versus expert opinion was 64%, comparable to novice baseline performance. CONCLUSIONS:AI-enhanced OCT with VivoAID significantly improved novice users' diagnostic accuracy and efficiency, despite AI performance alone being similar to baseline novice interpretation. These data support VivoAID's role as a decision-support and potential educational tool in dermatology. Findings are limited by small sample size, single-institution design, and repeated review of the same scans. TRIAL REGISTRATION/BACKGROUND:None.

PURPOSE/OBJECTIVE:Uncertainty is inherent to clinical practice and impacts diagnostic reasoning, patient safety, and trust. Despite its ubiquity, health professions education has not adequately prepared learners to communicate uncertainty to patients, families, and care teams. Training remains variable and unevenly assessed. The authors examined how uncertainty communication is taught and assessed across the health professions and identified gaps to inform curricular development and scholarship. METHOD/METHODS:The authors conducted a scoping review guided by Arksey and O'Malley's framework and reported according to PRISMA-ScR guidelines. Eligible studies included learners from any health profession and addressed communication of uncertainty with patients and/or clinicians. Commentaries and reviews were excluded. Searches were conducted in PubMed, Ovid MEDLINE, Scopus, ERIC, CINAHL, and MedEdPORTAL beginning in March 2024 through August 2026. Data were analyzed using inductive and deductive analysis informed by Han's uncertainty taxonomy. Study quality was assessed using the Medical Education Research Study Quality Instrument (MERSQI). RESULTS:Searches identified 18,810 records. After screening, 213 full-text articles were reviewed and 21 were included in the final analysis. Most were conducted in the U.S. and published after 2019. Learners were predominantly physicians-in-training, with most studies focused on undergraduate and graduate medical education; fewer addressed continuing education or interprofessional learners. Diagnostic uncertainty was the most frequently addressed uncertainty type. Educational approaches were primarily experiential, including simulation, standardized patients, OSCEs, and role-playing. Fewer than half of studies involved patients in design, development, or assessment. Twenty studies assessed learners using self-reported surveys, faculty observations, or standardized patient evaluations. MERSQI scores ranged from 6.5 to 15.5 (mean 10.4). No study evaluated clinical practice or patient outcomes. CONCLUSIONS:Educational approaches to uncertainty communication are emerging but remain limited in scope, learner populations, and outcome evaluation. Future work should prioritize interprofessional, longitudinal curricula and rigorous assessment strategies linking education to clinical and patient-level outcomes.

BACKGROUND/UNASSIGNED:Ulcerative colitis is monitored through clinical, laboratory, endoscopic, and histologic measures. Persistence of histologic inflammation despite clinical and endoscopic remission is associated with disease flare. METHODS/UNASSIGNED:We compared the identification of clinically significant histologic inflammation by general and IBD-specialized gastroenterologists (GI) using a simplified binary scoring system and looked at associations with disease relapse. RESULTS/UNASSIGNED:Both general and IBD-specialized GIs identified significant inflammation associated with relapse, though IBD-specialized GIs scoring had stronger correlations with relapse. CONCLUSIONS/UNASSIGNED:Our findings suggest simple histologic assessment can inform risk stratification, and further work is needed to optimize monitoring patients with histologic inflammation despite endoscopic remission.

PURPOSE/OBJECTIVE:Outpatient specialist palliative care (SPC) referral improves patient outcomes; however, it is unclear whether additional remote monitoring (RM) would provide further benefit. This pilot, parallel-group, single-blind, randomized clinical trial examined the within-group effect of monthly SPC alone or with additional weekly RM on symptom burden in patients with advanced cancer undergoing phase I therapies. METHODS:Eligibility criteria included advanced solid tumor diagnosis and moderate-to-high symptom burden (ie, Edmonton Symptom Assessment System [ESAS] score ≥4/10 for ≥1 symptom and Global Distress Score [GDS] ≥20/90) before starting phase I therapies. Patients were randomly assigned 1:1 to either monthly outpatient SPC visits alone or with additional RM, consisting of weekly phone calls and concurrent electronic ESAS assessments between monthly SPC visits. The primary outcome was within-group change in symptom burden (ESAS-GDS) from baseline to 2 weeks; secondary outcomes included within-group change from baseline in ESAS-GDS and health-related quality of life (HRQOL; measured by Functional Assessment of Chronic Illness Therapy-Spiritual Well-Being [FACIT-Sp]) over 12 weeks. RESULTS:= .02). CONCLUSION/CONCLUSIONS:Incorporating RM into SPC may improve symptoms and HRQOL beyond SPC alone for patients with moderate-to-high symptom burden. Our findings are considered preliminary and larger confirmatory trials are needed.

BACKGROUND & AIMS/OBJECTIVE:Adherence to guideline-based colonoscopy surveillance intervals remains suboptimal. Large language models show promise for automating interval assignment, but prior studies relied on proprietary models and have variably assessed generalizability. We developed and externally validated a clinical decision-support system that integrates locally deployable, open-source large language model-based variable extraction with a rules engine that encodes the 2020 United States Multi-Society Task Force guidelines. METHODS:We assembled development (n = 256), internal (n = 450), and external validation (n = 415) cohorts of colonoscopy-pathology dyads. We developed a 3-stage clinical decision-support system including: (1) large language model-based extraction of diagnosis-bearing sections from pathology reports; (2) large language model-based extraction of surveillance-relevant variables; and (3) deterministic assignment of surveillance intervals using United States Multi-Society Task Force logic. Seven open-source large language models (3.8-32B parameters) were benchmarked; the highest-performing model by macro-averaged F1 score was locked prior to validation. The primary outcome was guideline-concordant interval assignment (target, 90%); secondary outcomes included extraction performance and hallucination rate. RESULTS:The best-performing open-source model, Gemma-27B-Instruct (macro-averaged F1 score, 0.992), was locked. The clinical decision-support system achieved 94.0% guideline-concordant surveillance interval assignment in internal validation (95% confidence interval, 91.8%-96.0%; κ = 0.92; 95% confidence interval, 0.89-0.95) and 92.8% concordance in external validation (95% confidence interval, 90.1%-95.2%; κ = 0.88; 95% confidence interval, 0.84-0.91). Misclassifications were primarily due to adenoma miscounting and diagnostic biopsies misinterpreted as resections. Hallucination-related errors occurred in fewer than 1% of cases. CONCLUSIONS:We report an externally validated, hybrid large language model rules-based clinical decision-support system for colonoscopy surveillance that achieves >90% concordance while preserving transparency, auditability, and guideline traceability.

Achalasia is an uncommon primary esophageal motility disorder characterized by impaired lower esophageal sphincter relaxation and absent esophageal peristalsis. These changes result in progressive esophageal dilation and functional obstruction. Although classically associated with dysphagia and regurgitation, respiratory manifestations may predominate due to chronic aspiration of retained esophageal contents, which can obscure the underlying diagnosis and delay appropriate management. We report the case of a 20-year-old male with a history of asthma, gastroesophageal reflux disease, and gastroparesis who presented with one day of shortness of breath and productive cough, initially treated as an asthma exacerbation. Imaging performed to evaluate new-onset respiratory symptoms for one day prior to admission revealed a markedly dilated, fluid-filled esophagus and radiographic findings consistent with aspiration pneumonia. He was initially treated with one dose of 2 mg IV cefepime, then modified to Unasyn 3 mg and doxycycline 100 mg. Subsequent endoscopic evaluation confirmed severe esophageal dilation with retained food contents, supporting the diagnosis of advanced achalasia. This case highlights how achalasia may present primarily with pulmonary complications in young patients, particularly when coexisting respiratory disease is present. Delayed recognition can result in significant morbidity, including recurrent aspiration, malnutrition, and progressive esophageal dysfunction. Early consideration of esophageal motility disorders in patients with refractory respiratory symptoms and GI history is essential to prevent complications and guide timely therapeutic intervention.

Disseminated cutaneous herpes zoster (DCHZ), defined as lesions involving three or more dermatomes, is strongly associated with immunocompromised states and remains exceptionally rare in young immunocompetent adults. We present a case of DCHZ in a previously healthy 25-year-old male from Guatemala who presented with an eight-day history of a painful vesicular rash involving the right V2/V3, C3-C5, and T2-T3 dermatomes. Comprehensive evaluation for occult immunocompromise, including HIV testing, complete blood count, hemoglobin A1c, and urinalysis, was unrevealing. Treatment with high-dose intravenous acyclovir was complicated by acute kidney injury after four doses, with creatinine rising from 0.80 mg/dL to 2.60 mg/dL. Renal function improved following discontinuation of IV acyclovir and transition to oral valacyclovir. This case highlights the rarity of disseminated zoster in young immunocompetent adults and underscores the importance of targeted evaluation for underlying immunologic vulnerability and thorough investigation of acute kidney injury in the setting of DCHZ.