The Value of Performing a Post-Mortem Cardiovascular Genetic Panel Test

Purpose: To determine the utility of a post-mortem 95 cardiac gene panel in the diverse NYC population through examining the positive phenotypic predictors of clinically actionable gene variants as in those with sudden death. Methods: 254 participants with sudden death underwent post-mortem testing through a 95 cardiac gene panel between Oct 2015-Feb 2018. NGS and variant interpretation was performed internally at the NYC Office of the Chief Medical Examiner (OCME) following ACMG guidelines. Medical information was collected from the OCME internal records. Chi-square tests were used to investigate categorical predictors of pathogenic genetic test results. Results: Of 319 genetic test results, 51.4% (n = 164) were VUS, 9.1% (n = 29) were clinically actionable, and 39.5% (n = 126) were negative. Clinically actionable variants were found in 51 of the 95 genes sequenced. Positive predictors of pathogenic genetic test results were significant personal medical history, significant family history, and heart findings on autopsy. Conclusion: The results support widespread testing on all sudden death cases, however, this may not be feasible everywhere due to limited resource or financial allocations. From this study we were able to determine inclusion criteria for post-mortem genetic testing for heritable cardiac conditions

Pancreaticoduodenectomy in Trauma Patients with Grade IV-V Duodenal or Pancreatic Injuries: A Post Hoc Analysis of an EAST Multicenter Trial

INTRODUCTION: The utility of pancreaticoduodenectomy (PD) for high-grade traumatic injuries remains unclear and data surrounding its use are limited. We hypothesized that PD does not result in improved outcomes when compared with non-PD surgical management of grade IV-V pancreaticoduodenal injuries. METHODS: This is a retrospective, multicenter analysis from 35 level 1 trauma centers from January 2010 to December 2020. Included patients were ≥15 years of age with the American Association for the Surgery of Trauma grade IV-V duodenal and/or pancreatic injuries. The study compared operative repair strategy: PD versus non-PD. RESULTS: The sample (n=95) was young (26 years), male (82%), with predominantly penetrating injuries (76%). There was no difference in demographics, hemodynamics, or blood product requirement on presentation between PD (n=32) vs non-PD (n=63). Anatomically, PD patients had more grade V duodenal, grade V pancreatic, ampullary, and pancreatic ductal injuries compared with non-PD patients (all p CONCLUSION: While PD patients did not have worse hemodynamics or blood product requirements on admission, they sustained more complex anatomic injuries and had more GI complications and longer LOS than non-PD patients. We suggest that the role of PD should be limited to cases of massive destruction of the pancreatic head and ampullary complex, given the likely procedure-related morbidity and adverse outcomes when compared with non-PD management. LEVEL OF EVIDENCE: IV, Multicenter retrospective comparative study

Frequency of actionable germline pathogenic variants identified through tumor next-generation sequencing in a gynecologic cancer cohort

BackgroundTumor next-generation sequencing can identify potential germline pathogenic variants associated with cancer susceptibility.ObjectiveTo describe the frequency of tumor sequencing results that met European Society of Medical Oncology (ESMO) recommendations for further germline genetic testing, and the frequency of germline variants among a cohort with gynecologic cancer.MethodsPatients with gynecologic cancer who underwent tumor sequencing between September 2019 and February 2022 in a large healthcare system in New York City were retrospectively identified. Eligible patients with suspected germline pathogenic variants on tumor sequencing were identified based on ESMO guidelines. Logistic regression was used to explore variables associated with referral and completion of germline testing.ResultsOf 358 patients with gynecologic cancers who underwent tumor sequencing, 81 (22.6%) had ≥1 suspected germline variant according to ESMO guidelines. Of the 81 patients with qualifying tumor sequencing results, 56 (69.1%) received germline testing: 41/46 (89.1%) eligible patients with ovarian cancer and 15/33 (45.5%) with endometrial cancer. In the endometrial cancer cohort, 11/33 (33.3%) eligible patients were not referred for germline testing and the majority of these patients had tumor variants in genes commonly known to cause hereditary cancer. Of the 56 patients who underwent germline testing, 40 (71.4%) had pathogenic germline variants. In multivariable analysis, race/ethnicity other than non-Hispanic white was associated with lower odds of germline testing referral and completion (OR=0.1, 95% CI 0.01 to 0.5 and OR=0.2, 95% CI 0.04 to 0.6, respectively).ConclusionGiven the high rate of pathogenic germline variant detection and the importance of identifying such variants for both patients and their family, it is imperative that eligible patients undergo germline testing. Additional education for providers on multidisciplinary guidelines and development of clinical pathways to ensure germline testing of suspected pathogenic variants identified on tumor sequencing is warranted, especially in light of the racial/ethnic inequity observed.</jats:sec

Smokers' sources of e-cigarette awareness and risk information

Introduction: Few studies have explored sources of e-cigarette awareness and peoples' e-cigarette information needs, interests, or behaviors. This study contributes to both domains of e-cigarette research. Methods: Results are based on a 2014 e-cigarette focused survey of 519 current smokers from a nationally representative research panel. Results: Smokers most frequently reported seeing e-cigarettes in stores (86.4%) and used in person (83%). Many (73%) had also heard about e-cigarettes from known users, broadcast media ads (68%), other (print, online) advertisements (71.5%), and/or from the news (60.9%); sources of awareness varied by e-cigarette experience. Most smokers (59.9%) believed e-cigarettes are less harmful than regular cigarettes, a belief attributed to “common sense” (76.4%), the news (39.2%), and advertisements (37.2%). However, 79.5% felt e-cigarette safety information was important. Over one-third said they would turn to a doctor first for e-cigarette safety information, although almost a quarter said they would turn to the Internet or product packaging first. Most (59.6%) ranked doctors as the most trustworthy risk source, and 6.8% had asked a health professional about e-cigarettes. Conclusions: Future research should explore the content of e-cigarette information sources, their potential impact, and ways they might be strengthened or changed through regulatory and/or educational efforts