Citations

Abstract Ganglioneuromas (GN) are benign neuroblastic tumors that arise from neural crest cells. Since they present with nonspecific symptoms, diagnosis is often incidental. We are reporting a case of an adult appendiceal GN incidentally found during rectal cancer surgery. A 42-year-old male was diagnosed with recurrent rectal cancer after experiencing urinary difficulties and buttock pain. A multiple-stage pelvic exenteration was carried out after neoadjuvant chemotherapy and chemoradiation. Prophylactic appendectomy was done during the course of surgery, and pathology reported an appendix with GN at the distal tip. GN are often found incidentally and rarely cause appendicitis. Depending on their location and size, they might become symptomatic. While there is some controversy on whether surgery is the treatment of choice for all GN, diagnosis is rarely apparent preoperatively, and all appendiceal masses should be resected.

AbstractObjectiveEpilepsy management employs self‐reported seizure diaries, despite evidence of seizure underreporting. Wearable and implantable seizure detection devices are now becoming more widely available. There are no clear guidelines about what levels of accuracy are sufficient. This study aimed to simulate clinical use cases and identify the necessary level of accuracy for each.MethodsUsing a realistic seizure simulator (CHOCOLATES), a ground truth was produced, which was then sampled to generate signals from simulated seizure detectors of various capabilities. Five use cases were evaluated: (1) randomized clinical trials (RCTs), (2) medication adjustment in clinic, (3) injury prevention, (4) sudden unexpected death in epilepsy (SUDEP) prevention, and (5) treatment of seizure clusters. We considered sensitivity (0%–100%), false alarm rate (FAR; 0–2/day), and device type (external wearable vs. implant) in each scenario.ResultsThe RCT case was efficient for a wide range of wearable parameters, though implantable devices were preferred. Lower accuracy wearables resulted in subtle changes in the distribution of patients enrolled in RCTs, and therefore higher sensitivity and lower FAR values were preferred. In the clinic case, a wide range of sensitivity, FAR, and device type yielded similar results. For injury prevention, SUDEP prevention, and seizure cluster treatment, each scenario required high sensitivity and yet was minimally influenced by FAR.SignificanceThe choice of use case is paramount in determining acceptable accuracy levels for a wearable seizure detection device. We offer simulation results for determining and verifying utility for specific use case and specific wearable parameters.

Abstract Background Estimated glomerular filtration rate (eGFR) has become incorporated into multiple clinical management situations. Historically, equations included a Black race coefficient, which lacked biological plausibility and created potential to exacerbate health disparities. A new equation created in 2021 changed the weighting of age, sex, and creatinine by modeling against a diverse cohort and removing the Black race coefficient. Content A variety of clinical outcomes including kidney disease risk stratification, medication dosing, patient eligibility for clinical trials, and kidney donation are impacted by implementation of the new equation. Nearly 2 years after its initial publication, many studies have reported on observed analytical performance of the 2021 eGFR determined as diagnostic concordance and percentage of estimates within 30% of measured GFR. Additionally, the potential clinical impacts following adoption of the new eGFR among different patient populations has also been reported. Here we review these studies with a focus on assessing the data associated with the transition from 2009 to 2021 Chronic Kidney Disease Epidemiology Collaboration equations. Summary The reported interindividual variation in eGFR performance is significantly larger than any potential benefit derived from race coefficients. Both the 2021 eGFR and the 2009 eGFR analytical performance fall short of the validation cohort performance in most cohorts. However, the 2021 analytical is similar or better than the 2009 eGFR in most cohorts. Implementing the 2021 eGFR will remove a systematic overestimation of kidney function among Black patients.

Abstract Single case studies of extraordinary disease resilience may provide therapeutic insight into conditions for which no definitive treatments exist. An otherwise healthy 35-year-old man (patient-R) with the canonical pathogenic ACVR1R206H variant and the classic congenital great toe malformation of fibrodysplasia ossificans progressiva (FOP) had extreme paucity of post-natal heterotopic ossification (HO) and nearly normal mobility. We hypothesized that patient-R lacked a sufficient post-natal inflammatory trigger for HO. A plasma biomarker survey revealed a reduction in total matrix metalloproteinase-9 (MMP-9) compared to healthy controls and individuals with quiescent FOP. Whole exome sequencing identified compound heterozygous variants in MMP-9 (c.59C > T, p.A20V and c.493G > A, p.D165N). Structural analysis of the D165N variant predicted both decreased MMP-9 secretion and activity that were confirmed by enzyme-linked immunosorbent assay and gelatin zymography. Further, human proinflammatory M1-like macrophages expressing either MMP-9 variant produced significantly less Activin A, an obligate ligand for HO in FOP, compared to wildtype controls. Importantly, MMP-9 inhibition by genetic, biologic, or pharmacologic means in multiple FOP mouse models abrogated trauma-induced HO, sequestered Activin A in the extracellular matrix (ECM), and induced regeneration of injured skeletal muscle. Our data suggest that MMP-9 is a druggable node linking inflammation to HO, orchestrates an existential role in the pathogenesis of FOP, and illustrates that a single patient’s clinical phenotype can reveal critical molecular mechanisms of disease that unveil novel treatment strategies.

AbstractBackgroundPatient‐reported outcome measures (PROMs) are gaining favor in clinical and research settings given their ability to capture a patient's symptom burden, functional status, and quality of life. Our objective in this systematic review was to summarize studies including PROMs assessed among older adults (age ≥ 65 years) after seeking emergency care.MethodsWith the assistance of a medical librarian, we searched Ovid MEDLINE, PubMed, Embase, CINAHL, Web of Science‐Core Collection, and Cochrane CENTRAL from inception through June 2023 for studies in which older adult ED patients had PROMs assessed in the post–emergency care time period. Independent reviewers performed title/abstract review, full‐text screening, data extraction, study characteristic summarization, and risk‐of‐bias (RoB) assessments.ResultsOur search strategy yielded 5153 studies of which 56 met study inclusion criteria. Within included studies, 304 unique PROM assessments were performed at varying time points after the ED visit, including 61 unique PROMs. The most commonly measured domain was physical function, assessed within the majority of studies (47/56; 84%), with measures including PROMs such as Katz activities of daily living (ADLs), instrumental ADLs, and the Barthel Index. PROMs were most frequently assessed at 1–3 months after an ED visit (113/304; 37%), greater than 6 months (91/304; 30%), and 4–6 months (88/304; 29%), with very few PROMs assessed within 1 month of the ED visit (12/304; 4%). Of the 16 interventional studies, two were determined to have a low RoB, four had moderate RoB, nine had high RoB, and one had insufficient information. Of the 40 observational studies, 10 were determined to be of good quality, 20 of moderate quality, and 10 of poor quality.ConclusionsPROM assessments among older adults following an ED visit frequently measured physical function, with very few assessments occurring within the first 1 month after an ED visit.

Intussusception following Roux-en-Y gastric bypass is a rare, potentially life-threatening complication. Patients present with intermittent obstructive symptoms, and the diagnosis is made on imaging. Treatment is surgical considering the high likelihood of non-operative failure, strangulation, incarceration, perforation and concern for malignancy. We present the case of a woman in her 60s with a history of Roux-en-Y gastric bypass who presented with retrograde jejunojejunal intussusception at the distal Roux anastomosis. She proceeded to the operating room for complete anastomotic resection with reconstruction of three blind ends via two sequential isoperistaltic anastomoses. She progressed appropriately throughout her hospitalisation and was discharged on postoperative day 5 without recurrence. While intussusception in Roux-en-Y anatomy has been previously described, a literature review yielded sparse results in detailing its surgical correction. We highlight our unique surgical approach of jejunojejunal anastomotic resection with the creation of sequential isoperistaltic side-to-side anastomoses.

Abstract Introduction This study investigated the efficacy and safety of neoadjuvant chemotherapy for locally advance penile squamous cell carcinoma for which current evidence is lacking. Methods Included patients had locally advanced penile squamous cell carcinoma with clinical lymph node metastasis treated with at least 1 dose of neoadjuvant chemotherapy prior to planned consolidative lymphadenectomy. Objective response rates were assessed using Response Evaluation Criteria in Solid Tumors v1.1. The primary and secondary outcomes were overall survival and progression-free survival, estimated by the Kaplan–Meier method. Treatment-related adverse events were graded per the Common Terminology Criteria for Adverse Events v5.0. Results A total of 209 patients received neoadjuvant chemotherapy for locally advanced and clinically node-positive penile squamous cell carcinoma. The study population consisted of 7% of patients with stage II disease, 48% with stage III, and 45% with stage IV. Grade 2 treatment-related adverse events occurred in 35 (17%) patients, and no treatment-related mortality was observed. Of the patients, 201 (97%) completed planned consolidative lymphadenectomy. During follow-up, 106 (52.7%) patients expired, with a median overall survival of 37.0 months (95% confidence interval [CI] = 23.8 to 50.1 months) and median progression-free survival of 26.0 months (95% CI = 11.7 to 40.2 months). Objective response rate was 57.2%, with 87 (43.2%) having partial response and 28 (13.9%) having a complete response. Patients with objective response to neoadjuvant chemotherapy had a longer median overall survival (73.0 vs 17.0 months, P < .01) compared with those who did not. The lymph node pathologic complete response rate was 24.8% in the cohort. Conclusion Neoadjuvant chemotherapy with lymphadenectomy for locally advanced penile squamous cell carcinoma is well tolerated and active to reduce the disease burden and improve long-term survival outcomes.

Abstract Introduction The aim of this case–control study was to determine if exposure to tumor necrosis factor alpha inhibitors (TNFIs) or immunomodulators (thiopurines or methotrexate) was associated with development of primary gastrointestinal lymphoma (PGIL) in patients with chronic inflammatory conditions. Methods Patients with PGIL and controls evaluated at a tertiary care center over 20 years were matched 1:3 using a medical record informatics search engine based on their chronic inflammatory condition (Crohn’s disease [CD], ulcerative colitis [UC], rheumatoid arthritis, ankylosing spondylitis, and psoriatic arthritis) and duration of follow-up. Patients who started on TNFI within 3 months of PGIL diagnosis were excluded. We extracted demographics, medical history, and medications used. Univariate models using conditional logistic regression were used due to the small number of matched pairs. Results Twenty PGIL cases matched with 60 controls were followed for a mean 9.9 ± 6.9 and 9.7 ± 8.6 years, respectively. Mean age at time of PGIL diagnosis was 47.5 ± 22.0 (standard deviation) years and the majority (75%) were males. The most common inflammatory diagnosis was inflammatory bowel disease (80% of cases; 45% with UC and 35% with CD). Development of PGIL was not associated with TNFI (odds ratio [OR] = 2.6; 95% confidence interval [CI] 0.69–11.01; P = .18), but with use of TNFI in combination with thiopurines (OR = 8.93; 95% CI 1.43–80.25; P = .014). Risk of PGIL increased with every additional TNFI (2.277 (1.002–5.713); P = .0494). All cases exposed to multiple TNFI were also exposed to thiopurines. Use of thiopurines (alone or in combination) was the greatest risk factor (OR = 6.32; 95% CI 1.55–37.05; P = 0.006) to develop PGIL. Conclusions TNFI therapy was not associated with increased risk for PGIL unless used in combination with thiopurines and with every switch to a different TNFI.

Background: Telehealth use was previously limited by strict regulations and financial constraints. However, the pandemic prompted some countries to ease their telehealth laws. Thus, we conducted a bibliometric analysis and network visualization to gauge changes in tele-neuropsychology (Tele-NP) and tele-mental Health (Tele-MH) trends with the onset of the COVID-19 pandemic. Materials and methods: The authors conducted a literature search on SCOPUS and included relevant articles pertaining to Tele-NP and Tele-MH, which were published before the COVID-19 pandemic (2017–2019) and during the COVID-19 pandemic (2020–2022). The authors presented publication patterns on psychiatric disorders, mode of administration, journals, active countries, authors, affiliations, funding sponsors, keywords, publication, and citation output. Results: Three hundred forty-one articles were included in our study with 80 articles before the pandemic and 261 during the pandemic. Our analysis revealed the greatest increase in publications and citations output was from the year 2020 to 2021. A greater number of journals published tele-NP and tele-MH-related research, with higher frequency, during the COVID-19 pandemic with Telemedicine and E-health leading the way. WHO regional analysis revealed that the Region of the Americas (AMRO) was the leading contributor in terms of publications. Harvard Medical Center remained the number one contributor both before and during the COVID-19- pandemic. Publications by funding sponsors, particularly by those that were US-based, increased twice as much during the pandemic. Conclusion: The increase in research output following the COVID-19 outbreak reflects the growing interest and relevance of telemedicine for the delivery of mental health services.