Genomic Analysis of Thrombophilia Variants in the General Population for the Creation of an Effective Preoperative Screening Tool.

BACKGROUND: The loss of a free flap in reconstructive microsurgery is a devastating complication in both the intraoperative and postoperative setting. Previous research has identified a variety of genetic polymorphisms that induce a hypercoagulable state and predispose patients to clot formation and subsequent free flap loss. We aim to review the risks of performing microsurgery on patients who are genetically predisposed to hypercoagulability, as well as identify options, for preoperative screening of inherited thrombophilia. METHODS: A thorough literature review was conducted with an online database. A total of 30 studies were reviewed to identify genetic polymorphisms that cause inherited thrombophilia. Through manual review of the literature, a table was created that included thrombotic risk factors and their associated genetic polymorphisms. If the information was available, prevalence for each thrombotic risk was also reported. RESULTS: Overall, 18 thrombotic risk factors that contribute to hereditary thrombophilia were identified and linked with specific genes and/or genetic polymorphisms. In studies that did not look at particular ethnic groups, 13 unique thrombotic risk factors were identified. In studies that examined specific ethnic groups exclusively, 12 thrombotic risk factors were identified and related to their respective gene or group of genes. Five of the 18 thrombotic risk factors identified were associated with increased risks of both venous and arterial thrombosis. The remainder of the thrombotic risk factors was associated with increased risk of venous thrombosis exclusively. CONCLUSION: The use of genetic screening tests for hereditary thrombophilia in the preoperative setting can serve as an effective preventative measure against postoperative thrombosis. Further exploration of thrombotic risk factors and their related genetic polymorphisms are important steps in reducing postoperative free flap loss.

Remdesivir-associated bradycardia in COVID-19: a rapid review protocol.

INTRODUCTION: Remdesivir is an antiviral medication that is used in the treatment of severe COVID-19. Research has highlighted the potential cardiac side effects of remdesivir, including the occurrence of remdesivir-associated bradycardia (RAB), but these findings have not been consistent. In addition, very little is known about the clinical implications and outcomes of RAB. The aim of this rapid systematic review is to determine the event rate of developing bradycardia while receiving remdesivir treatment compared with not receiving remdesivir in patients diagnosed with COVID-19. METHODS AND ANALYSIS: This study follows the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocol guidelines and will include original papers related to COVID-19, remdesivir and bradycardia. Only English language papers published from 1 December 2019 to 31 December 2022 will be included. The following databases will be searched using keywords and controlled vocabulary: Ovid MEDLINE, Ovid EMBASE, Scopus, Cochrane, PubMed and Web of Science. Two reviewers will independently perform screening and data abstraction. Data will be synthesised qualitatively as well as quantitatively. A random-effects model will be used to calculate the pooled estimates. ETHICS AND DISSEMINATION: This review will systematically analyse the clinical studies available to help better characterise RAB. The results will support a retrospective study investigating RAB that is currently being conducted at the University Medical Center of Southern Nevada in Las Vegas, Nevada. PROSPERO REGISTRATION NUMBER: This protocol has been submitted to and approved by PROSPERO (Protocol ID: CRD42022331614).

The Data Error Criteria (DEC) for retrospective studies: development and preliminary application.

Retrospective chart review (RCR) studies rely on the collection and analysis of documented clinical data, a process that can be prone to errors. The aim of this study was to develop a defined set of criteria to evaluate RCR datasets for potential data errors. The Data Error Criteria (DEC) were developed by identifying data coding and data entry errors via literature review and then classifying them based on error types. Three components comprise the DEC: general errors, numerical-specific errors, and categorical variable-specific errors. Two reviewers independently applied these criteria via a manual review process to an existing de-identified database. A total of 10,168 errors were identified out of a total of 28,656 data points. The total number of errors included redundancies as certain errors may be included in multiple categories. These included 2515 general errors, 39 numerical-specific errors, and 7614 categorical variable-specific errors. Input-related categorical variable-specific errors occurred most frequently, followed by errors secondary to blank cells. Inter-rater agreement was near perfect for all categories. Identifying errors outlined in the DEC can be crucial for the data analysis stage as they can lead to inaccurate calculations and delay study timelines. The DEC offers a framework to evaluate datasets while reducing time and efforts needed to create high-quality RCR-related databases.

Cardiac Structure and Function in Adults with Down Syndrome.

Various factors may alter the risk for cardiovascular disease in adults with Down syndrome (Ds), yet few studies have examined differences in cardiac physiology in this population. Previous research suggested lower systolic and diastolic function, but inconsistent methodologies and younger samples warrant research in adults with Ds. Our aim is to compare the cardiac structure and function of adults with Ds to age- and sex-matched adults without Ds. Echocardiography was used to assess systolic function, diastolic function, and cardiac structure in n = 19 adults (Ds n = 9, control n = 10). Regarding cardiac structure, adults with Ds had increased left ventricular posterior wall thickness at end-systole compared to adults without Ds (p = 0.007). Regarding systolic and diastolic function, adults with Ds were found to have lower septal peak systolic annular velocity (S') (p = 0.026), lower lateral and septal mitral annular early diastolic velocity (E') (p = 0.007 and p = 0.025, respectively), lower lateral peak mitral annular late diastolic velocity (A') (p = 0.027), and higher lateral and septal mitral annular early systolic velocity to diastolic velocity ratios (E/e') (p = 0.001 and p = 0.001, respectively). Differences in both cardiac structure and function were found when comparing adults with Ds to matched adults without Ds. Most of the differences were indicative of worse diastolic function.