Pub Date : 2023-11-14DOI: 10.1101/2023.11.14.23298472
Bella M. Gonzalez Ponce, Angelina Pilatti, Gabriela Rivarola Montejano, Adrian J. Bravo, Fermin Fernandez Calderon
Background: Longitudinal Measurement Invariance (LMI) is critically important to evaluate changes in the alcohol expectancies over time. However, few studies have yet explored the longitudinal properties of the Spanish EQ-SF. Objectives: To examine the reliability, sources of validity (structural and concurrent validity), and LMI of the Spanish short version of the Alcohol Expectancy Questionnaire in a sample of young adults who engage in binge drinking. Methods: The participants (n = 279; Mean age = 21.33, SD = 2.15; 48.4% female) completed the Spanish EQ-SF, and two months later they completed this measure again, along with measures to alcohol use, drinking motives, and protective behavioral strategies (PBS). Confirmatory Factor Analysis was used to identify which of two proposed models provided the best-fitting factor structure. We aimed to determine whether the best-fitting model was invariant across assessments and to evaluate the predictive validity and reliability of the scores. Results: Our findings revealed that the eight-factor intercorrelated model provided the best fit. This model was invariant across assessments, providing evidence for longitudinal measurement invariance. Moreover, the scores showed adequate reliability (.68 to .90) and predictive validity (i.e., positive alcohol expectancies were positively related to alcohol use and drinking motives and negatively related to PBS). Conclusion: Our results support the reliability, validity, and temporal invariance of the EQ-SF scores among Spanish young adults with binge drinking patterns. The evidence supports the suitability of this measure for accurately assessing changes in alcohol expectancies over time in interventions aimed at preventing binge drinking in young adults.
{"title":"Psychometric Properties and Longitudinal Measurement Invariance of the Spanish Version of the Alcohol Expectancies Questionnaire Short Form among Young Adult Binge Drinkers","authors":"Bella M. Gonzalez Ponce, Angelina Pilatti, Gabriela Rivarola Montejano, Adrian J. Bravo, Fermin Fernandez Calderon","doi":"10.1101/2023.11.14.23298472","DOIUrl":"https://doi.org/10.1101/2023.11.14.23298472","url":null,"abstract":"Background: Longitudinal Measurement Invariance (LMI) is critically important to evaluate changes in the alcohol expectancies over time. However, few studies have yet explored the longitudinal properties of the Spanish EQ-SF. Objectives: To examine the reliability, sources of validity (structural and concurrent validity), and LMI of the Spanish short version of the Alcohol Expectancy Questionnaire in a sample of young adults who engage in binge drinking. Methods: The participants (n = 279; Mean age = 21.33, SD = 2.15; 48.4% female) completed the Spanish EQ-SF, and two months later they completed this measure again, along with measures to alcohol use, drinking motives, and protective behavioral strategies (PBS). Confirmatory Factor Analysis was used to identify which of two proposed models provided the best-fitting factor structure. We aimed to determine whether the best-fitting model was invariant across assessments and to evaluate the predictive validity and reliability of the scores. Results: Our findings revealed that the eight-factor intercorrelated model provided the best fit. This model was invariant across assessments, providing evidence for longitudinal measurement invariance. Moreover, the scores showed adequate reliability (.68 to .90) and predictive validity (i.e., positive alcohol expectancies were positively related to alcohol use and drinking motives and negatively related to PBS). Conclusion: Our results support the reliability, validity, and temporal invariance of the EQ-SF scores among Spanish young adults with binge drinking patterns. The evidence supports the suitability of this measure for accurately assessing changes in alcohol expectancies over time in interventions aimed at preventing binge drinking in young adults.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"17 5","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134955774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-14DOI: 10.1101/2023.11.14.23298500
Rodney Itaki, Shalon Taufa
Habitual betel quid chewing is a leading cause of oral cancer in Asia-Pacific countries where this practice is prevalent. While health policies have focused on countering betel quid chewing concerning cancer, current policies and health promotion strategies overlook the emerging link to adverse cardiovascular outcomes. This oversight could be due to inadequate studies demonstrating the association between betel quid chewing and cardiovascular risk. To address this gap, we conducted a systematic literature review and narrative synthesis of peer-reviewed published studies showing habitual betel quid use as a cardiovascular risk factor.
{"title":"Impact of habitual betel nut chewing on cardiovascular risk and outcome: A systematic review.","authors":"Rodney Itaki, Shalon Taufa","doi":"10.1101/2023.11.14.23298500","DOIUrl":"https://doi.org/10.1101/2023.11.14.23298500","url":null,"abstract":"Habitual betel quid chewing is a leading cause of oral cancer in Asia-Pacific countries where this practice is prevalent. While health policies have focused on countering betel quid chewing concerning cancer, current policies and health promotion strategies overlook the emerging link to adverse cardiovascular outcomes. This oversight could be due to inadequate studies demonstrating the association between betel quid chewing and cardiovascular risk. To address this gap, we conducted a systematic literature review and narrative synthesis of peer-reviewed published studies showing habitual betel quid use as a cardiovascular risk factor.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"9 5","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134956847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-14DOI: 10.1101/2023.11.13.23298476
David Oks, Symon Reza, Mariano Vázquez-Justes, Guillaume Houzeaux, Brandon Kovarovic, Cristóbal Samaniego, Danny Bluestein
Purpose: TAVR has emerged as a standard approach for treating severe aortic stenosis patients. However, it is associated with several clinical complications, including subclinical leaflet thrombosis characterized by Hypoattenuated Leaflet Thickening (HALT). A rigorous analysis of TAVR device thrombogenicity considering anatomical variations is essential for estimating this risk. Clinicians use the Sinotubular Junction (STJ) diameter for TAVR sizing, but there is a paucity of research on its influence on TAVR devices thrombogenicity. Methods: A Medtronic Evolut® TAVR device was deployed in three patient models with varying STJ diameters (26, 30, and 34mm) to evaluate its impact on post-deployment hemodynamics and thrombogenicity, employing a novel computational framework combining prosthesis deployment and fluidstructure interaction analysis. Results: The 30 mm STJ patient case exhibited the best hemodynamic performance: 5.94 mmHg mean transvalvular pressure gradient (TPG), 2.64 cm 2 mean geometric orifice area (GOA), and the lowest mean residence time (TR) - indicating a reduced thrombogenic risk; 26 mm STJ exhibited a 10 % reduction in GOA and a 35% increase in mean TPG compared to the 30 mm STJ; 34 mm STJ depicted hemodynamics comparable to the 30 mm STJ, but with a 6% increase in TR and elevated platelet stress accumulation. Conclusion: A smaller STJ size impairs adequate expansion of the TAVR stent, which may lead to suboptimal hemodynamic performance. Conversely, a larger STJ size marginally enhances the hemodynamic performance but increases the risk of TAVR leaflet thrombosis. Such analysis can aid preprocedural planning and minimize the risk of TAVR leaflet thrombosis.
目的:TAVR已成为治疗严重主动脉瓣狭窄患者的标准方法。然而，它与一些临床并发症有关，包括以小叶减薄增厚(HALT)为特征的亚临床小叶血栓形成。考虑到解剖变异，对TAVR装置致血栓性进行严格的分析对于估计这种风险至关重要。临床医生使用窦管交界处(STJ)直径来确定TAVR的尺寸，但关于其对TAVR装置血栓形成性影响的研究很少。方法:将美敦力Evolut®TAVR装置部署在三种不同STJ直径(26,30和34mm)的患者模型中，采用结合假体部署和流固相互作用分析的新型计算框架，评估其对部署后血流动力学和血栓形成性的影响。结果:30mm STJ患者血流动力学表现最佳:平均经瓣压力梯度(TPG)为5.94 mmHg，平均几何孔面积(GOA)为2.64 cm 2，平均停留时间(TR)最低，表明血栓形成风险降低;与30 mm STJ相比，26 mm STJ的GOA减少了10%，平均TPG增加了35%;34 mm STJ的血流动力学与30 mm STJ相当，但TR增加6%，血小板应激积累升高。结论:较小的STJ尺寸不利于TAVR支架的充分扩张，可能导致血流动力学性能不理想。相反，较大的STJ尺寸略微提高了血流动力学性能，但增加了TAVR小叶血栓形成的风险。这样的分析可以帮助术前规划和最小化TAVR小叶血栓形成的风险。
{"title":"Effect of Sinotubular Junction Size on TAVR Leaflet Thrombosis: A Fluid-structure Interaction Analysis","authors":"David Oks, Symon Reza, Mariano Vázquez-Justes, Guillaume Houzeaux, Brandon Kovarovic, Cristóbal Samaniego, Danny Bluestein","doi":"10.1101/2023.11.13.23298476","DOIUrl":"https://doi.org/10.1101/2023.11.13.23298476","url":null,"abstract":"Purpose: TAVR has emerged as a standard approach for treating severe aortic stenosis patients. However, it is associated with several clinical complications, including subclinical leaflet thrombosis characterized by Hypoattenuated Leaflet Thickening (HALT). A rigorous analysis of TAVR device thrombogenicity considering anatomical variations is essential for estimating this risk. Clinicians use the Sinotubular Junction (STJ) diameter for TAVR sizing, but there is a paucity of research on its influence on TAVR devices thrombogenicity. Methods: A Medtronic Evolut® TAVR device was deployed in three patient models with varying STJ diameters (26, 30, and 34mm) to evaluate its impact on post-deployment hemodynamics and thrombogenicity, employing a novel computational framework combining prosthesis deployment and fluidstructure interaction analysis. Results: The 30 mm STJ patient case exhibited the best hemodynamic performance: 5.94 mmHg mean transvalvular pressure gradient (TPG), 2.64 cm 2 mean geometric orifice area (GOA), and the lowest mean residence time (TR) - indicating a reduced thrombogenic risk; 26 mm STJ exhibited a 10 % reduction in GOA and a 35% increase in mean TPG compared to the 30 mm STJ; 34 mm STJ depicted hemodynamics comparable to the 30 mm STJ, but with a 6% increase in TR and elevated platelet stress accumulation. Conclusion: A smaller STJ size impairs adequate expansion of the TAVR stent, which may lead to suboptimal hemodynamic performance. Conversely, a larger STJ size marginally enhances the hemodynamic performance but increases the risk of TAVR leaflet thrombosis. Such analysis can aid preprocedural planning and minimize the risk of TAVR leaflet thrombosis.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"97 7","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134957332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-14DOI: 10.1101/2023.11.08.23298253
Vismit Gami, Dev Desai, Sahil Shah, Devang Rana
Introduction Diagnosing and staging breast cancer with an easy and widely useable method that can be employed worldwide in the poorest and wealthiest settings is important. Mammography is a technique that might not be available in faraway clinics and it is technically challenging whereas USG can be available in most remote areas and small hospitals far from tertiary care hospitals. Even a trainee Radiology resident can use USG BIRADS and can be used diagnostically for that, it is important to define its, diagnostic accuracy with Sensitivity, Specificity, and other diagnostic parameters. Aims: - To determine the Diagnostic accuracy of USG BIRADS compared to the gold standard Histopathology report Methodology A Retrospective cohort study was conducted at a tertiary care hospital. a total of 84 female patients presenting to Surgical OPD with complaints of a breast lump or pain were enrolled from their records. Their Breast USG results were analyzed to identify their BIRADS stage correctly and then their corresponding Histopathology report was considered the gold standard to compare the USG results against. Excel, SPSS, and Revman were used to conduct analysis and create results. Results: - 36 of these 84 patients belonged to BIRADS 1, 2, and 5 where Sensitivity, Specificity, and PPV were calculated at 100%. No one was diagnosed with BIRADS III from USG reports. For USG BIRADS 4, in total 48 patients Sensitivity was 0.667, specificity was 0.883, and PPV was 0.364. Conclusion: - Patients whose USG shows Benign growth or can be diagnosed in BIRADS 1, 2, 3, and 5 can be counted as accurate and precise. When the USG diagnosis describes the patient to be in BIRADS 4, the sensitivity and PPV show poor results showing a very low probability of the patient being truly positive when the diagnosis gives a positive result. Keywords: - USG BI-RADS, Breast lump, Histopathology, Staging of Breast Carcinoma
{"title":"Clinical Utility of Ultrasonography BI-RADS in the Evaluation of Breast Cancer in Patients with Palpable Breast Masses: A Diagnostic Test Accuracy Original Article","authors":"Vismit Gami, Dev Desai, Sahil Shah, Devang Rana","doi":"10.1101/2023.11.08.23298253","DOIUrl":"https://doi.org/10.1101/2023.11.08.23298253","url":null,"abstract":"Introduction Diagnosing and staging breast cancer with an easy and widely useable method that can be employed worldwide in the poorest and wealthiest settings is important. Mammography is a technique that might not be available in faraway clinics and it is technically challenging whereas USG can be available in most remote areas and small hospitals far from tertiary care hospitals. Even a trainee Radiology resident can use USG BIRADS and can be used diagnostically for that, it is important to define its, diagnostic accuracy with Sensitivity, Specificity, and other diagnostic parameters. Aims: - To determine the Diagnostic accuracy of USG BIRADS compared to the gold standard Histopathology report Methodology A Retrospective cohort study was conducted at a tertiary care hospital. a total of 84 female patients presenting to Surgical OPD with complaints of a breast lump or pain were enrolled from their records. Their Breast USG results were analyzed to identify their BIRADS stage correctly and then their corresponding Histopathology report was considered the gold standard to compare the USG results against. Excel, SPSS, and Revman were used to conduct analysis and create results. Results: - 36 of these 84 patients belonged to BIRADS 1, 2, and 5 where Sensitivity, Specificity, and PPV were calculated at 100%. No one was diagnosed with BIRADS III from USG reports. For USG BIRADS 4, in total 48 patients Sensitivity was 0.667, specificity was 0.883, and PPV was 0.364. Conclusion: - Patients whose USG shows Benign growth or can be diagnosed in BIRADS 1, 2, 3, and 5 can be counted as accurate and precise. When the USG diagnosis describes the patient to be in BIRADS 4, the sensitivity and PPV show poor results showing a very low probability of the patient being truly positive when the diagnosis gives a positive result. Keywords: - USG BI-RADS, Breast lump, Histopathology, Staging of Breast Carcinoma","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"16 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134955515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
In the evolving landscape of electronic sports (esports), where economic and social expectations are soaring, a critical concern has emerged in physical complaints among esports players. However, empirical insights into these complaints' prevalence and influencing factors are scarce. This study aimed to clarify the prevalence of physical complaints and their association with esports activities among Japanese esports players. A web-based cross-sectional survey encompassing 175 esports players from both professional and amateur teams in Japan was conducted. The analysis focused on 79 male participants (average age: 21.6 ± 5.6 years) with complete responses. The survey items included the esports factors (the device mainly used, the duration of esports titles played primarily, hours of esports activities per day on weekdays and holidays, and the distance between the screen and the face during esports activities) and physical complaints (headache, neck pain, stiff or sore shoulders, wrist pain, finger pain, lower back pain, and eye fatigue). A total of 49.4% reported stiff or sore shoulders, 48.1% faced eye fatigue, and 30.4% had headaches. Professionals exhibited a significantly higher likelihood of neck, wrist, and lower back pain and eye fatigue than amateurs. Age-adjusted logistic regression analysis uncovered that using mainly mobile devices and being closer to the screen and face during esports activities were significantly associated with neck pain, stiff or sore shoulders, lower back pain, and eye fatigue. These results suggest that poor posture caused by using mobile devices and being closer to the screen during esports activities was related to various physical complaints.
{"title":"Physical complaints and their relationships to esports activities among Japanese esports players: A cross-sectional study","authors":"Takafumi Monma, Takashi Matsui, Shoya Koyama, Hiromasa Ueno, Junichi Kagesawa, Chisato Oba, Kentaro Nakamura, Hideki Takagi, Fumi Takeda","doi":"10.1101/2023.11.14.23298495","DOIUrl":"https://doi.org/10.1101/2023.11.14.23298495","url":null,"abstract":"In the evolving landscape of electronic sports (esports), where economic and social expectations are soaring, a critical concern has emerged in physical complaints among esports players. However, empirical insights into these complaints' prevalence and influencing factors are scarce. This study aimed to clarify the prevalence of physical complaints and their association with esports activities among Japanese esports players. A web-based cross-sectional survey encompassing 175 esports players from both professional and amateur teams in Japan was conducted. The analysis focused on 79 male participants (average age: 21.6 ± 5.6 years) with complete responses. The survey items included the esports factors (the device mainly used, the duration of esports titles played primarily, hours of esports activities per day on weekdays and holidays, and the distance between the screen and the face during esports activities) and physical complaints (headache, neck pain, stiff or sore shoulders, wrist pain, finger pain, lower back pain, and eye fatigue). A total of 49.4% reported stiff or sore shoulders, 48.1% faced eye fatigue, and 30.4% had headaches. Professionals exhibited a significantly higher likelihood of neck, wrist, and lower back pain and eye fatigue than amateurs. Age-adjusted logistic regression analysis uncovered that using mainly mobile devices and being closer to the screen and face during esports activities were significantly associated with neck pain, stiff or sore shoulders, lower back pain, and eye fatigue. These results suggest that poor posture caused by using mobile devices and being closer to the screen during esports activities was related to various physical complaints.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"4 5","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134956683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-14DOI: 10.1101/2023.11.13.23298493
Xi Zhang, Qing Jin, Tao Zhao, Jiaji He, Guiping He, Qiang Xue, Xuefeng Guang
Abstract BACKGROUND: Rotational atherectomy (RA) is predominantly employed in the treatment of severe calcification lesions in patients with coronary atherosclerotic heart disease (CAD). Studies focusing on the assessment of postoperative microvascular dysfunction (CMD) after RA and related prognosis are scarce. AIMS: we attempted to investigate the predictive significance of coronary angiography-derived microcirculatory resistance (AMR) in patients with coronary RA. METHODS: This retrospective study analyzed the data from 114 patients who were successfully treated between January 2019 and September 2022. Coronary microcirculatory function after RA was assessed using AMR. Patients were categorized into CMD and non-CMD groups depending on a postoperative AMR of ≥2.5 mmHg-s/cm.. Patients were followed up for postoperative major adverse cardiovascular events (MACE). RESULTS: We analyzed the data from 114 patients, and post-RA, the mean AMR, mean QFR, and the percentage of CMDs were significantly higher compared to those before RA. MACE occurred in 14 (12.3%) patients after a year of follow-up. A higher proportion of patients in the MACE group showed post-RA AMR of ≥2.5 mmHg-s/cm (57.1% vs. 27.0%, P=0.048). Cox regression analysis showed that AMR ?2.5 mmHg-s/cm (HR=3.86, 95%CI. 1.28-11.63, P=0.016) and renal insufficiency (HR=9.92, 95%CI: 2.06-47.83, P=0.004) were independent predictors of MACE. Logistic regression analyses showed the length of the RA operative area and diabetes mellitus (DM) were related to post-RA CMD. CONCLUSION: In patients with CAD treated with RA, AMR ≥2.5 mmHg-s/cm independently predicted post-RA MACE; furthermore, the operative length of RA and the comorbid DM were associated with CMD following RA.
{"title":"Prognostic Value of Angiography-derived Microcirculatory Resistance in Patients undergoing Rotational Atherectomy","authors":"Xi Zhang, Qing Jin, Tao Zhao, Jiaji He, Guiping He, Qiang Xue, Xuefeng Guang","doi":"10.1101/2023.11.13.23298493","DOIUrl":"https://doi.org/10.1101/2023.11.13.23298493","url":null,"abstract":"Abstract BACKGROUND: Rotational atherectomy (RA) is predominantly employed in the treatment of severe calcification lesions in patients with coronary atherosclerotic heart disease (CAD). Studies focusing on the assessment of postoperative microvascular dysfunction (CMD) after RA and related prognosis are scarce. AIMS: we attempted to investigate the predictive significance of coronary angiography-derived microcirculatory resistance (AMR) in patients with coronary RA. METHODS: This retrospective study analyzed the data from 114 patients who were successfully treated between January 2019 and September 2022. Coronary microcirculatory function after RA was assessed using AMR. Patients were categorized into CMD and non-CMD groups depending on a postoperative AMR of ≥2.5 mmHg-s/cm.. Patients were followed up for postoperative major adverse cardiovascular events (MACE). RESULTS: We analyzed the data from 114 patients, and post-RA, the mean AMR, mean QFR, and the percentage of CMDs were significantly higher compared to those before RA. MACE occurred in 14 (12.3%) patients after a year of follow-up. A higher proportion of patients in the MACE group showed post-RA AMR of ≥2.5 mmHg-s/cm (57.1% vs. 27.0%, P=0.048). Cox regression analysis showed that AMR ?2.5 mmHg-s/cm (HR=3.86, 95%CI. 1.28-11.63, P=0.016) and renal insufficiency (HR=9.92, 95%CI: 2.06-47.83, P=0.004) were independent predictors of MACE. Logistic regression analyses showed the length of the RA operative area and diabetes mellitus (DM) were related to post-RA CMD. CONCLUSION: In patients with CAD treated with RA, AMR ≥2.5 mmHg-s/cm independently predicted post-RA MACE; furthermore, the operative length of RA and the comorbid DM were associated with CMD following RA.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"16 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134953583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-14DOI: 10.1101/2023.11.14.23298510
Haoyue Li
Background: Hospital acquired pressure injuries (HAPIs) increase the medical burden of patients in the cardiovascular intensive care unit (CCU). Thus, identification of CCU patients with a risk for HAPIs is important. Objective: To establish a nomogram model for predicting the occurrence of HAPIs in patients in the CCU. Methods: This was a retrospective cohort study of patients in the CCU at our hospital who developed HAPIs between January 2023 and June 2023. Patient data were extracted from the hospital's information management system. Risk factors for HAPIs were identified using univariate and multivariate logistic regression analyses and integrated into a nomogram. The effectiveness of the nomogram was evaluated and verified using receiver operating characteristic curve and decision curve analysis (DCA). Results: A total of 161 patients were included in this study. Univariate logistic regression analysis showed that vasopressor use and NT proBNP, lactic acid, procalcitonin, D-dimer, and albumin levels were independent risk factors for HAPIs. Multivariate logistic regression analysis showed that vasopressor use (OR=3.049, 95%CI=1.203-7.729, P=0.019) and lactic acid (OR=12.053, 95%Cl=4.125-35.210, P=0.000), procalcitonin (OR=1.304, 95%Cl=1.008-1.687, P=0.043) and albumin (OR=0.823, 95%Cl=0.729-0.928, P=0.002) levels were independent risk factors for HAPIs. The nomogram was well-calibrated and showed good discriminative ability (AUC=0.868). The DCA showed a better net benefit, and the results were verified in the validation cohort. Conclusion: The nomogram model developed in this study showed good predictability and can identify patients at risk of developing HAPIs and aid the formulation of targeted interventions.
{"title":"Development of a Nomogram for Predicting the Risk of Hospital-Acquired Pressure Injuries in Patients in the Cardiovascular Intensive Care Unit","authors":"Haoyue Li","doi":"10.1101/2023.11.14.23298510","DOIUrl":"https://doi.org/10.1101/2023.11.14.23298510","url":null,"abstract":"Background: Hospital acquired pressure injuries (HAPIs) increase the medical burden of patients in the cardiovascular intensive care unit (CCU). Thus, identification of CCU patients with a risk for HAPIs is important. Objective: To establish a nomogram model for predicting the occurrence of HAPIs in patients in the CCU. Methods: This was a retrospective cohort study of patients in the CCU at our hospital who developed HAPIs between January 2023 and June 2023. Patient data were extracted from the hospital's information management system. Risk factors for HAPIs were identified using univariate and multivariate logistic regression analyses and integrated into a nomogram. The effectiveness of the nomogram was evaluated and verified using receiver operating characteristic curve and decision curve analysis (DCA). Results: A total of 161 patients were included in this study. Univariate logistic regression analysis showed that vasopressor use and NT proBNP, lactic acid, procalcitonin, D-dimer, and albumin levels were independent risk factors for HAPIs. Multivariate logistic regression analysis showed that vasopressor use (OR=3.049, 95%CI=1.203-7.729, P=0.019) and lactic acid (OR=12.053, 95%Cl=4.125-35.210, P=0.000), procalcitonin (OR=1.304, 95%Cl=1.008-1.687, P=0.043) and albumin (OR=0.823, 95%Cl=0.729-0.928, P=0.002) levels were independent risk factors for HAPIs. The nomogram was well-calibrated and showed good discriminative ability (AUC=0.868). The DCA showed a better net benefit, and the results were verified in the validation cohort. Conclusion: The nomogram model developed in this study showed good predictability and can identify patients at risk of developing HAPIs and aid the formulation of targeted interventions.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"20 6","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134953763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-14DOI: 10.1101/2023.11.13.23298348
Olivia Wootton, Alexey A Shadrin, Thomas Bjella, Olav Bjerkehagen Smeland, Dennis van der Meer, Oleksandr Frei, Kevin S O'Connell, Torill Ueland, Ole Andreassen, Dan J Stein, Shareefa Dalvie
Cognitive impairment is a major determinant of functional outcomes in schizophrenia, and efforts to understand the biological basis of cognitive dysfunction in the disorder are ongoing. Previous studies have suggested genetic overlap between global cognitive ability and schizophrenia, but further work is needed to delineate the shared genetic architecture. Here, we apply genomic structural equation modelling to identify latent cognitive factors capturing genetic liabilities to 12 cognitive traits measured in the UK Biobank (UKB). We explore the overlap between latent cognitive factors, schizophrenia, and schizophrenia symptom dimensions using a complementary set of statistical approaches, applied to data from the latest schizophrenia genome-wide association study (Ncase = 53,386, Ncontrol = 77,258) and the Thematically Organised Psychosis study (Ncase = 306, Ncontrol = 1060). We identified three broad factors (visuo-spatial, verbal analytic and decision/reaction time) that underly the genetic correlations between the UKB cognitive tests. Global genetic correlations showed a significant but moderate negative genetic correlation between each cognitive factor and schizophrenia. Local genetic correlations implicated unique genomic regions underlying the overlap between schizophrenia and each cognitive factor. We found evidence of substantial polygenic overlap between each cognitive factor and schizophrenia but show that most loci shared between the latent cognitive factors and schizophrenia have unique patterns of association with the cognitive factors. Biological annotation of the shared loci implicated gene-sets related to neurodevelopment and neuronal function. Lastly, we find that the common genetic determinants of the latent cognitive factors are not predictive of schizophrenia symptom dimensions. Overall, these findings inform our understanding of cognitive function in schizophrenia by demonstrating important differences in the shared genetic architecture of schizophrenia and cognitive abilities.
{"title":"Genomic Insights into the Shared and Distinct Genetic Architecture of Cognitive Function and Schizophrenia","authors":"Olivia Wootton, Alexey A Shadrin, Thomas Bjella, Olav Bjerkehagen Smeland, Dennis van der Meer, Oleksandr Frei, Kevin S O'Connell, Torill Ueland, Ole Andreassen, Dan J Stein, Shareefa Dalvie","doi":"10.1101/2023.11.13.23298348","DOIUrl":"https://doi.org/10.1101/2023.11.13.23298348","url":null,"abstract":"Cognitive impairment is a major determinant of functional outcomes in schizophrenia, and efforts to understand the biological basis of cognitive dysfunction in the disorder are ongoing. Previous studies have suggested genetic overlap between global cognitive ability and schizophrenia, but further work is needed to delineate the shared genetic architecture. Here, we apply genomic structural equation modelling to identify latent cognitive factors capturing genetic liabilities to 12 cognitive traits measured in the UK Biobank (UKB). We explore the overlap between latent cognitive factors, schizophrenia, and schizophrenia symptom dimensions using a complementary set of statistical approaches, applied to data from the latest schizophrenia genome-wide association study (Ncase = 53,386, Ncontrol = 77,258) and the Thematically Organised Psychosis study (Ncase = 306, Ncontrol = 1060). We identified three broad factors (visuo-spatial, verbal analytic and decision/reaction time) that underly the genetic correlations between the UKB cognitive tests. Global genetic correlations showed a significant but moderate negative genetic correlation between each cognitive factor and schizophrenia. Local genetic correlations implicated unique genomic regions underlying the overlap between schizophrenia and each cognitive factor. We found evidence of substantial polygenic overlap between each cognitive factor and schizophrenia but show that most loci shared between the latent cognitive factors and schizophrenia have unique patterns of association with the cognitive factors. Biological annotation of the shared loci implicated gene-sets related to neurodevelopment and neuronal function. Lastly, we find that the common genetic determinants of the latent cognitive factors are not predictive of schizophrenia symptom dimensions. Overall, these findings inform our understanding of cognitive function in schizophrenia by demonstrating important differences in the shared genetic architecture of schizophrenia and cognitive abilities.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134956677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. However, reliable splicing analysis often faces practical limitations, especially when the relevant tissues are challenging to access. While in silico predictions are valuable, they alone do not meet clinical classification standards. In this study, we aim to harness the well-established full-length gene splicing assay (FLGSA) in conjunction with SpliceAI to prospectively interpret the splicing effects of all potential coding SNVs within the four-exon SPINK1 gene, a gene associated with chronic pancreatitis. Results: We initiated the study with a retrospective correlation analysis (involving 27 previously FLGSA-analyzed SPINK1 coding SNVs), progressed to a prospective correlation analysis (incorporating 35 newly FLGSA-tested SPINK1 coding SNVs), followed by data extrapolation, and ended with further validation. In total, we analyzed 67 SPINK1 coding SNVs, representing 9.3% of all 720 possible coding SNVs and affecting 19.2% of the 240 coding nucleotides. Among these 67 FLGSA-analyzed SNVs, 12 were found to impact splicing. Through extensive cross-correlation of the FLGSA-obtained and SpliceAI-predicted data, we reasonably extrapolated that none of the unanalyzed 653 coding SNVs in the SPINK1 gene are likely to exert a significant effect on splicing. Out of these 12 splice-altering events, nine produced both wild-type and aberrant transcripts, while the remaining three exclusively generated aberrant transcripts. These splice-altering SNVs were predominantly concentrated in exons 1 and 2, particularly affecting the first and/or last coding nucleotide of each exon. Among the 12 splice-altering events, 11 were missense variants, constituting 2.17% of the 506 potential missense variants, while one was synonymous, accounting for 0.61% of the 164 potential synonymous variants. Conclusions: Integrating FLGSA with SpliceAI, we conclude that less than 2% (1.67%) of all possible SPINK1 coding SNVs have a discernible influence on splicing outcomes. Our findings underscore the importance of performing splicing analysis in the broader genomic sequence context of the study gene, highlight the inherent uncertainties associated with intermediate SpliceAI scores (i.e., those ranging from 0.20 to 0.80), and have general implications for the shift from "retrospective" to "prospective" analysis in terms of variant classification.
{"title":"Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible<i>SPINK1</i>coding variants","authors":"Hao Wu, Jin-Huan Lin, Xin-Ying Tang, Wen-Bin Zou, Sacha Schutz, Emmanuelle Masson, Yann Fichou, Gerald Le Gac, Claude Ferec, Zhuan Liao, Jian-Min Chen","doi":"10.1101/2023.11.14.23298498","DOIUrl":"https://doi.org/10.1101/2023.11.14.23298498","url":null,"abstract":"Background: Single-nucleotide variants (SNVs) within gene coding sequences can significantly impact pre-mRNA splicing, bearing profound implications for pathogenic mechanisms and precision medicine. However, reliable splicing analysis often faces practical limitations, especially when the relevant tissues are challenging to access. While in silico predictions are valuable, they alone do not meet clinical classification standards. In this study, we aim to harness the well-established full-length gene splicing assay (FLGSA) in conjunction with SpliceAI to prospectively interpret the splicing effects of all potential coding SNVs within the four-exon SPINK1 gene, a gene associated with chronic pancreatitis. Results: We initiated the study with a retrospective correlation analysis (involving 27 previously FLGSA-analyzed SPINK1 coding SNVs), progressed to a prospective correlation analysis (incorporating 35 newly FLGSA-tested SPINK1 coding SNVs), followed by data extrapolation, and ended with further validation. In total, we analyzed 67 SPINK1 coding SNVs, representing 9.3% of all 720 possible coding SNVs and affecting 19.2% of the 240 coding nucleotides. Among these 67 FLGSA-analyzed SNVs, 12 were found to impact splicing. Through extensive cross-correlation of the FLGSA-obtained and SpliceAI-predicted data, we reasonably extrapolated that none of the unanalyzed 653 coding SNVs in the SPINK1 gene are likely to exert a significant effect on splicing. Out of these 12 splice-altering events, nine produced both wild-type and aberrant transcripts, while the remaining three exclusively generated aberrant transcripts. These splice-altering SNVs were predominantly concentrated in exons 1 and 2, particularly affecting the first and/or last coding nucleotide of each exon. Among the 12 splice-altering events, 11 were missense variants, constituting 2.17% of the 506 potential missense variants, while one was synonymous, accounting for 0.61% of the 164 potential synonymous variants. Conclusions: Integrating FLGSA with SpliceAI, we conclude that less than 2% (1.67%) of all possible SPINK1 coding SNVs have a discernible influence on splicing outcomes. Our findings underscore the importance of performing splicing analysis in the broader genomic sequence context of the study gene, highlight the inherent uncertainties associated with intermediate SpliceAI scores (i.e., those ranging from 0.20 to 0.80), and have general implications for the shift from \"retrospective\" to \"prospective\" analysis in terms of variant classification.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"8 3","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134956855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-14DOI: 10.1101/2023.11.14.23298501
Lisa Kurver, Timothy Seers, Suzanne van Dorp, Reinout van Crevel, Gabriele Pollara, Arjan van Laarhoven
Background Tuberculosis (TB) can induce secondary hemophagocytic lymphohistiocytosis (HLH), a severe inflammatory syndrome with high mortality. To improve insight into optimal diagnostic and treatment strategies, we integrated all published reports of adult HIV-negative TB-associated HLH (TB-HLH) globally to define clinical characteristics and therapeutic approaches associated with improved survival. Methods PubMed, Embase, and Global Index Medicus were searched for eligible records. TB-HLH cases were categorized into patients with a confirmed TB diagnosis receiving antituberculosis treatment while developing HLH, and patients presenting with HLH of unknown cause later diagnosed with TB. We integrated patients' clinical characteristics, diagnostic test results, and pre-specified parameters associated with survival into a logistic regression model. Results We identified 115 individually reported cases, 45 (39.1%) from low TB incidence countries (<10/100.000 per year). Compared to HLH patients with known TB (n=21), patients with HLH of unknown cause (n=94), more often had extrapulmonary TB (88.3% vs. 66.7%), while the opposite was true for pulmonary disease (59.6% vs. 91.5%). Overall, Mycobacterium tuberculosis was identified in the bone marrow in 78.4% of patients for whom examination was reported (n=74). Only 10.5% (4/38) of patients tested had a positive tuberculin skin test or interferon gamma release assay. In-hospital survival was 71.9% (69/96) in those treated for TB and 0% (18/18) in those who did not receive antituberculosis treatment (p < 0.001). Conclusions Tuberculosis should be considered as a cause of unexplained HLH. TB-HLH is probably under-reported, and the diagnostic work-up of HLH patients should include bone marrow examination for evidence of M. tuberculosis infection. Prompt initiation of antituberculosis treatment will likely improve survival.
结核病(TB)可诱发继发性噬血细胞性淋巴组织细胞病(HLH)，这是一种死亡率很高的严重炎症综合征。为了更好地了解最佳诊断和治疗策略，我们整合了全球所有已发表的成人hiv阴性结核相关HLH (TB-HLH)报告，以定义与提高生存率相关的临床特征和治疗方法。方法检索PubMed、Embase和Global Index Medicus中符合条件的记录。结核-HLH病例分为两类:确诊为结核的患者在发展为HLH时接受抗结核治疗，以及出现原因不明的HLH后被诊断为结核的患者。我们将患者的临床特征、诊断测试结果和与生存相关的预先指定参数整合到一个逻辑回归模型中。我们确定了115例单独报告的病例，其中45例(39.1%)来自低结核病发病率国家(每年10/10万)。与已知结核的HLH患者(n=21)相比，原因不明的HLH患者(n=94)更常发生肺外结核(88.3%对66.7%)，而肺部疾病的情况相反(59.6%对91.5%)。总体而言，78.4%报告检查的患者骨髓中发现结核分枝杆菌(n=74)。只有10.5%(4/38)的患者结核菌素皮肤试验或干扰素释放试验呈阳性。接受结核病治疗的住院生存率为71.9%(69/96)，未接受抗结核治疗的住院生存率为0% (18/18)(p <0.001)。结论结核应被认为是原因不明的HLH的原因之一。结核-HLH可能报告不足，对HLH患者的诊断检查应包括骨髓检查，以寻找结核分枝杆菌感染的证据。及时开始抗结核治疗可能会提高生存率。
{"title":"Tuberculosis-associated hemophagocytic lymphohistiocytosis: diagnostic challenges and determinants of outcome","authors":"Lisa Kurver, Timothy Seers, Suzanne van Dorp, Reinout van Crevel, Gabriele Pollara, Arjan van Laarhoven","doi":"10.1101/2023.11.14.23298501","DOIUrl":"https://doi.org/10.1101/2023.11.14.23298501","url":null,"abstract":"Background Tuberculosis (TB) can induce secondary hemophagocytic lymphohistiocytosis (HLH), a severe inflammatory syndrome with high mortality. To improve insight into optimal diagnostic and treatment strategies, we integrated all published reports of adult HIV-negative TB-associated HLH (TB-HLH) globally to define clinical characteristics and therapeutic approaches associated with improved survival. Methods PubMed, Embase, and Global Index Medicus were searched for eligible records. TB-HLH cases were categorized into patients with a confirmed TB diagnosis receiving antituberculosis treatment while developing HLH, and patients presenting with HLH of unknown cause later diagnosed with TB. We integrated patients' clinical characteristics, diagnostic test results, and pre-specified parameters associated with survival into a logistic regression model. Results We identified 115 individually reported cases, 45 (39.1%) from low TB incidence countries (<10/100.000 per year). Compared to HLH patients with known TB (n=21), patients with HLH of unknown cause (n=94), more often had extrapulmonary TB (88.3% vs. 66.7%), while the opposite was true for pulmonary disease (59.6% vs. 91.5%). Overall, Mycobacterium tuberculosis was identified in the bone marrow in 78.4% of patients for whom examination was reported (n=74). Only 10.5% (4/38) of patients tested had a positive tuberculin skin test or interferon gamma release assay. In-hospital survival was 71.9% (69/96) in those treated for TB and 0% (18/18) in those who did not receive antituberculosis treatment (p < 0.001). Conclusions Tuberculosis should be considered as a cause of unexplained HLH. TB-HLH is probably under-reported, and the diagnostic work-up of HLH patients should include bone marrow examination for evidence of M. tuberculosis infection. Prompt initiation of antituberculosis treatment will likely improve survival.","PeriodicalId":478577,"journal":{"name":"medRxiv (Cold Spring Harbor Laboratory)","volume":"16 12","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134955509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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