Pub Date : 2025-01-01Epub Date: 2024-11-12DOI: 10.7326/ANNALS-24-02405
Lauren E Gibson, Jeanine P Wiener-Kronish, Lee A Fleisher
{"title":"From Risk to Recovery: Looking Ahead to the Next 50 Years of Preoperative Cardiovascular Assessment.","authors":"Lauren E Gibson, Jeanine P Wiener-Kronish, Lee A Fleisher","doi":"10.7326/ANNALS-24-02405","DOIUrl":"10.7326/ANNALS-24-02405","url":null,"abstract":"","PeriodicalId":7932,"journal":{"name":"Annals of Internal Medicine","volume":" ","pages":"128-129"},"PeriodicalIF":19.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142612043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.7326/ANNALS-25-00077-HO
David A Fried
{"title":"Annals for Hospitalists - January 2025.","authors":"David A Fried","doi":"10.7326/ANNALS-25-00077-HO","DOIUrl":"https://doi.org/10.7326/ANNALS-25-00077-HO","url":null,"abstract":"","PeriodicalId":7932,"journal":{"name":"Annals of Internal Medicine","volume":"178 1","pages":"e2500077HO"},"PeriodicalIF":19.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-12-17DOI: 10.7326/ANNALS-24-01321
Jeremy B Sussman, Linnea M Wilson, James F Burke, Boback Ziaeian, Timothy S Anderson
{"title":"Clinical Characteristics and Current Management of U.S. Adults at Elevated Risk for Heart Failure Using the PREVENT Equations: A Cross-Sectional Analysis.","authors":"Jeremy B Sussman, Linnea M Wilson, James F Burke, Boback Ziaeian, Timothy S Anderson","doi":"10.7326/ANNALS-24-01321","DOIUrl":"10.7326/ANNALS-24-01321","url":null,"abstract":"","PeriodicalId":7932,"journal":{"name":"Annals of Internal Medicine","volume":" ","pages":"144-147"},"PeriodicalIF":19.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142833315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Denial, Old Friend.","authors":"Tina S Chai","doi":"10.7326/M24-0586","DOIUrl":"https://doi.org/10.7326/M24-0586","url":null,"abstract":"","PeriodicalId":7932,"journal":{"name":"Annals of Internal Medicine","volume":"178 1","pages":"138"},"PeriodicalIF":19.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-01-07DOI: 10.7326/ANNALS-24-03366-JC
Anthony A Donato, Muhammad Ameen
Clinical impact ratings: GIM/FP/GP: [Formula: see text] Cardiology: [Formula: see text].
临床影响评分：GIM/FP/GP:[公式：见文]心脏病学：[公式：见文]。
{"title":"In HF, MRAs reduced HF hospitalization or CV death regardless of ejection fraction.","authors":"Anthony A Donato, Muhammad Ameen","doi":"10.7326/ANNALS-24-03366-JC","DOIUrl":"https://doi.org/10.7326/ANNALS-24-03366-JC","url":null,"abstract":"<p><strong>Clinical impact ratings: </strong>GIM/FP/GP: [Formula: see text] Cardiology: [Formula: see text].</p>","PeriodicalId":7932,"journal":{"name":"Annals of Internal Medicine","volume":"178 1","pages":"JC3"},"PeriodicalIF":19.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-12-24DOI: 10.7326/ANNALS-24-01101
Alina Kurolap, Chofit Chai Gadot, Orly Eshach Adiv, Tova Hershkovitz, Emily Avitan-Hersh, Ludovic Martin, Helene Humeau, Ulrich A Schatz, Dominik S Westphal, Silvia Lobmaier, Efrat Sofrin-Drucker, Patrick Stafler, Joshua Bugis, Irit Chermesh, Emilia Hardak, Polina Geva, Yaniv Zohar, Dov Hershkovitz, Adi Mory, Sumit Chatterji, Shoshana Greenberger, Michal Shteinberg, Hagit Baris Feldman
Background: Yellow nail syndrome (YNS) is a rare disorder characterized by a triad of yellow dystrophic nails, lymphedema, and chronic lung disease. Most patients present in adulthood, with only a few congenital or familial cases described. The cause of YNS remains largely unknown, although defects in lymphatic vessel development are suggested to play a significant role.
Objective: To elucidate the genetic mechanisms underlying YNS.
Design: Analysis of genetic sequencing data and gene and protein expression studies.
Setting: A tertiary care academic medical center.
Patients: 6 patients with congenital YNS (cYNS) and 5 with sporadic YNS (sYNS).
Measurements: Exome and genome sequencing were used to detect disease-causing variants, complemented by RNA analyses for intronic variants. Protein and gene expressions were studied by immunofluorescence staining and real-time reverse transcriptase quantitative polymerase chain reaction analyses.
Results: Biallelic variants in CELSR1 (n = 5) or likely FZD6 (n = 1), both core molecules in the Wnt/planar cell polarity (PCP) pathway, were identified in all patients with cYNS; none of the patients with sYNS had candidate genetic variants. Immunofluorescence staining showed that CELSR1 colocalizes with lymphatic vessels in the skin but not in the lungs or the intestine. Moreover, levels of CELSR1 and FZD6 proteins were negligible to zero in patient tissues (n = 2) compared with control tissues. Gene expression of Wnt/PCP-related genes was reduced in patients with cYNS (n = 3), and patients with sYNS (n = 4) showed milder gene expression impairments.
Limitation: Small cohort size and limited sample availability.
Conclusion: Defects in PCP organization may play a major role in the pathogenesis of YNS. To the authors' knowledge, this is the first demonstration of a mechanism explaining YNS development, mainly in its congenital form but also in patients with sporadic disease.
Primary funding source: The Prof. Baum Research Fund of Israel Lung Association.
{"title":"Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.","authors":"Alina Kurolap, Chofit Chai Gadot, Orly Eshach Adiv, Tova Hershkovitz, Emily Avitan-Hersh, Ludovic Martin, Helene Humeau, Ulrich A Schatz, Dominik S Westphal, Silvia Lobmaier, Efrat Sofrin-Drucker, Patrick Stafler, Joshua Bugis, Irit Chermesh, Emilia Hardak, Polina Geva, Yaniv Zohar, Dov Hershkovitz, Adi Mory, Sumit Chatterji, Shoshana Greenberger, Michal Shteinberg, Hagit Baris Feldman","doi":"10.7326/ANNALS-24-01101","DOIUrl":"10.7326/ANNALS-24-01101","url":null,"abstract":"<p><strong>Background: </strong>Yellow nail syndrome (YNS) is a rare disorder characterized by a triad of yellow dystrophic nails, lymphedema, and chronic lung disease. Most patients present in adulthood, with only a few congenital or familial cases described. The cause of YNS remains largely unknown, although defects in lymphatic vessel development are suggested to play a significant role.</p><p><strong>Objective: </strong>To elucidate the genetic mechanisms underlying YNS.</p><p><strong>Design: </strong>Analysis of genetic sequencing data and gene and protein expression studies.</p><p><strong>Setting: </strong>A tertiary care academic medical center.</p><p><strong>Patients: </strong>6 patients with congenital YNS (cYNS) and 5 with sporadic YNS (sYNS).</p><p><strong>Measurements: </strong>Exome and genome sequencing were used to detect disease-causing variants, complemented by RNA analyses for intronic variants. Protein and gene expressions were studied by immunofluorescence staining and real-time reverse transcriptase quantitative polymerase chain reaction analyses.</p><p><strong>Results: </strong>Biallelic variants in <i>CELSR1</i> (<i>n</i> = 5) or likely <i>FZD6</i> (<i>n</i> = 1), both core molecules in the Wnt/planar cell polarity (PCP) pathway, were identified in all patients with cYNS; none of the patients with sYNS had candidate genetic variants. Immunofluorescence staining showed that CELSR1 colocalizes with lymphatic vessels in the skin but not in the lungs or the intestine. Moreover, levels of CELSR1 and FZD6 proteins were negligible to zero in patient tissues (<i>n</i> = 2) compared with control tissues. Gene expression of Wnt/PCP-related genes was reduced in patients with cYNS (<i>n</i> = 3), and patients with sYNS (<i>n</i> = 4) showed milder gene expression impairments.</p><p><strong>Limitation: </strong>Small cohort size and limited sample availability.</p><p><strong>Conclusion: </strong>Defects in PCP organization may play a major role in the pathogenesis of YNS. To the authors' knowledge, this is the first demonstration of a mechanism explaining YNS development, mainly in its congenital form but also in patients with sporadic disease.</p><p><strong>Primary funding source: </strong>The Prof. Baum Research Fund of Israel Lung Association.</p>","PeriodicalId":7932,"journal":{"name":"Annals of Internal Medicine","volume":" ","pages":"39-49"},"PeriodicalIF":19.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142880918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-12-24DOI: 10.7326/ANNALS-24-00800
Claire L Vale, Peter J Godolphin, David J Fisher, Julian P T Higgins, Alexandra McAleenan, Francesca Spiga, Tobias Tritschler, Pedro Gabriel Melo de Barros E Silva, David D Berg, Jeffrey S Berger, Lindsay R Berry, Behnood Bikdeli, Marc Blondon, Erin A Bohula, Marco Cattaneo, Riccardo Colombo, Valeria Coluccio, Maria T DeSancho, Michael E Farkouh, Valentin Fuster, Massimo Girardis, Judith S Hochman, Thomas P Jensen, Vivekanand Jha, Peter Jüni, Ajay J Kirtane, Patrick Lawler, Grégoire Le Gal, Ramon Lecumberri, Steven R Lentz, Renato D Lopes, Elizabeth Lorenzi, Marco Marietta, Carlos Henrique Miranda, Nuccia Morici, Susan C Morpeth, David A Morrow, Zoe K McQuilten, Nuria Muñoz-Rivas, Matthew D Neal, Suman Pant, Sahil A Parikh, Usha Perepu, Parham Sadeghipour, Sanjum Sethi, Michelle Sholzberg, Alex C Spyropoulos, Gregg W Stone, Azita Hajhossein Talasaz, Steven Tong, James Totterdell, Balasubramanian Venkatesh, Maddalena Alessandra Wu, Ryan Zarychanski, Stephane Zuily, Julie Viry, Jamie Rylance, Neill K J Adhikari, Janet V Diaz, John C Marshall, Jonathan A C Sterne, Srinivas Murthy
Background: Reported results of clinical trials assessing higher-dose anticoagulation in patients hospitalized for COVID-19 have been inconsistent.
Purpose: To estimate the association of higher- versus lower-dose anticoagulation with clinical outcomes.
Data sources: Randomized trials were identified from the World Health Organization's International Clinical Trials Registry Platform and ClinicalTrials.gov with no restriction by trial status or language.
Study selection: Eligible randomized trials assigned patients hospitalized for COVID-19 to higher- versus lower-dose anticoagulation.
Data extraction: 20 eligible trials provided data in a prospectively agreed format. Two further studies were included based on published data. The primary outcome was all-cause mortality 28 days after randomization. Secondary outcomes were progression to invasive mechanical ventilation or death, thromboembolic events, and major bleeding.
Data synthesis: Therapeutic- compared with prophylactic-dose anticoagulation with heparins reduced 28-day mortality (OR, 0.77 [95% CI, 0.64 to 0.93]; I2 = 29%; 11 trials, 6297 patients, of whom 5456 required low or no oxygen at randomization). The ORs for 28-day mortality were 1.21 (CI, 0.93 to 1.58; I2 = 0%) for therapeutic-dose compared with intermediate-dose anticoagulation (6 trials, 1803 patients, 843 receiving noninvasive ventilation at randomization) and 0.95 (CI, 0.76 to 1.19; I2 = 0%; 10 trials, 3897 patients, 2935 receiving no or low oxygen at randomization) for intermediate- versus prophylactic-dose anticoagulation. Treatment effects appeared broadly consistent across predefined patient subgroups, although some analyses were limited in power. Higher- compared with lower-dose anticoagulation was associated with fewer thromboembolic events, but a greater risk for major bleeding.
Conclusion: Therapeutic-dose compared with prophylactic-dose anticoagulation reduced 28-day mortality. Mortality was similar for intermediate-dose compared with prophylactic-dose anticoagulation and higher for therapeutic-dose compared with intermediate-dose anticoagulation, although this comparison was not estimated precisely.
Primary funding source: No direct funding. (PROSPERO: CRD42020213461).
{"title":"Anticoagulation Among Patients Hospitalized for COVID-19 : A Systematic Review and Prospective Meta-analysis.","authors":"Claire L Vale, Peter J Godolphin, David J Fisher, Julian P T Higgins, Alexandra McAleenan, Francesca Spiga, Tobias Tritschler, Pedro Gabriel Melo de Barros E Silva, David D Berg, Jeffrey S Berger, Lindsay R Berry, Behnood Bikdeli, Marc Blondon, Erin A Bohula, Marco Cattaneo, Riccardo Colombo, Valeria Coluccio, Maria T DeSancho, Michael E Farkouh, Valentin Fuster, Massimo Girardis, Judith S Hochman, Thomas P Jensen, Vivekanand Jha, Peter Jüni, Ajay J Kirtane, Patrick Lawler, Grégoire Le Gal, Ramon Lecumberri, Steven R Lentz, Renato D Lopes, Elizabeth Lorenzi, Marco Marietta, Carlos Henrique Miranda, Nuccia Morici, Susan C Morpeth, David A Morrow, Zoe K McQuilten, Nuria Muñoz-Rivas, Matthew D Neal, Suman Pant, Sahil A Parikh, Usha Perepu, Parham Sadeghipour, Sanjum Sethi, Michelle Sholzberg, Alex C Spyropoulos, Gregg W Stone, Azita Hajhossein Talasaz, Steven Tong, James Totterdell, Balasubramanian Venkatesh, Maddalena Alessandra Wu, Ryan Zarychanski, Stephane Zuily, Julie Viry, Jamie Rylance, Neill K J Adhikari, Janet V Diaz, John C Marshall, Jonathan A C Sterne, Srinivas Murthy","doi":"10.7326/ANNALS-24-00800","DOIUrl":"10.7326/ANNALS-24-00800","url":null,"abstract":"<p><strong>Background: </strong>Reported results of clinical trials assessing higher-dose anticoagulation in patients hospitalized for COVID-19 have been inconsistent.</p><p><strong>Purpose: </strong>To estimate the association of higher- versus lower-dose anticoagulation with clinical outcomes.</p><p><strong>Data sources: </strong>Randomized trials were identified from the World Health Organization's International Clinical Trials Registry Platform and ClinicalTrials.gov with no restriction by trial status or language.</p><p><strong>Study selection: </strong>Eligible randomized trials assigned patients hospitalized for COVID-19 to higher- versus lower-dose anticoagulation.</p><p><strong>Data extraction: </strong>20 eligible trials provided data in a prospectively agreed format. Two further studies were included based on published data. The primary outcome was all-cause mortality 28 days after randomization. Secondary outcomes were progression to invasive mechanical ventilation or death, thromboembolic events, and major bleeding.</p><p><strong>Data synthesis: </strong>Therapeutic- compared with prophylactic-dose anticoagulation with heparins reduced 28-day mortality (OR, 0.77 [95% CI, 0.64 to 0.93]; <i>I</i> <sup>2</sup> = 29%; 11 trials, 6297 patients, of whom 5456 required low or no oxygen at randomization). The ORs for 28-day mortality were 1.21 (CI, 0.93 to 1.58; <i>I</i> <sup>2</sup> = 0%) for therapeutic-dose compared with intermediate-dose anticoagulation (6 trials, 1803 patients, 843 receiving noninvasive ventilation at randomization) and 0.95 (CI, 0.76 to 1.19; <i>I</i> <sup>2</sup> = 0%; 10 trials, 3897 patients, 2935 receiving no or low oxygen at randomization) for intermediate- versus prophylactic-dose anticoagulation. Treatment effects appeared broadly consistent across predefined patient subgroups, although some analyses were limited in power. Higher- compared with lower-dose anticoagulation was associated with fewer thromboembolic events, but a greater risk for major bleeding.</p><p><strong>Conclusion: </strong>Therapeutic-dose compared with prophylactic-dose anticoagulation reduced 28-day mortality. Mortality was similar for intermediate-dose compared with prophylactic-dose anticoagulation and higher for therapeutic-dose compared with intermediate-dose anticoagulation, although this comparison was not estimated precisely.</p><p><strong>Primary funding source: </strong>No direct funding. (PROSPERO: CRD42020213461).</p>","PeriodicalId":7932,"journal":{"name":"Annals of Internal Medicine","volume":" ","pages":"59-69"},"PeriodicalIF":19.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142880943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2025-01-07DOI: 10.7326/ANNALS-24-03370-JC
Eric R Bates
Clinical impact ratings: GIM/FP/GP: [Formula: see text] Cardiology: [Formula: see text].
临床影响评分：GIM/FP/GP:[公式：见文]心脏病学：[公式：见文]。
{"title":"In subclinical AF, apixaban vs. aspirin reduced stroke or systemic embolism at 3.5 y, regardless of duration of recent subclinical AF episodes.","authors":"Eric R Bates","doi":"10.7326/ANNALS-24-03370-JC","DOIUrl":"10.7326/ANNALS-24-03370-JC","url":null,"abstract":"<p><strong>Clinical impact ratings: </strong>GIM/FP/GP: [Formula: see text] Cardiology: [Formula: see text].</p>","PeriodicalId":7932,"journal":{"name":"Annals of Internal Medicine","volume":"178 1","pages":"JC7"},"PeriodicalIF":19.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-12-10DOI: 10.7326/ANNALS-24-00716
Mohammadreza Naderian, Kristjan Norland, Daniel J Schaid, Iftikhar J Kullo
Background: Clinical risk calculators for coronary heart disease (CHD) do not include genetic, social, and lifestyle-psychological risk factors.
Objective: To improve CHD risk prediction by developing and evaluating a prediction model that incorporated a polygenic risk score (PRS) and a polysocial score (PSS), the latter including social determinants of health and lifestyle-psychological factors.
Design: Cohort study.
Setting: United Kingdom.
Participants: UK Biobank participants recruited between 2006 and 2010.
Measurements: Incident CHD (myocardial infarction and/or coronary revascularization); 10-year clinical risk based on pooled cohort equations (PCE), Predicting Risk of cardiovascular disease EVENTs (PREVENT), and QRISK3; PRS (Polygenic Score Catalog identification: PGS000018) for CHD (PRSCHD); and PSSCHD from 100 related covariates. Machine-learning and time-to-event analyses and model performance indices.
Results: In 388 224 participants (age, 55.5 [SD, 8.1] years; 42.5% men; 94.9% White), the hazard ratio for 1 SD increase in PSSCHD for incident CHD was 1.43 (95% CI, 1.38 to 1.49; P <0.001) and for 1 SD increase in PRSCHD was 1.59 (CI, 1.53 to 1.66, P < 0.001). Non-White persons had higher PSSCHD than White persons. The effects of PSSCHD and PRSCHD on CHD were independent and additive. At a 10-year CHD risk threshold of 7.5%, adding PSSCHD and PRSCHD to PCE reclassified 12% of participants, with 1.86 times higher CHD risk in the up- versus down-reclassified persons and showed superior performance compared with PCE as reflected by improved net benefit while maintaining good calibration relative to the clinical risk calculators. Similar results were seen when incorporating PSSCHD and PRSCHD into PREVENT and QRISK3.
Limitation: A predominantly White cohort; possible healthy participant effect and ecological fallacy.
Conclusion: A PSSCHD was associated with incident CHD and its joint modeling with PRSCHD improved the performance of clinical risk calculators.
Primary funding source: National Human Genome Research Institute.
{"title":"Development and Evaluation of a Comprehensive Prediction Model for Incident Coronary Heart Disease Using Genetic, Social, and Lifestyle-Psychological Factors: A Prospective Analysis of the UK Biobank.","authors":"Mohammadreza Naderian, Kristjan Norland, Daniel J Schaid, Iftikhar J Kullo","doi":"10.7326/ANNALS-24-00716","DOIUrl":"10.7326/ANNALS-24-00716","url":null,"abstract":"<p><strong>Background: </strong>Clinical risk calculators for coronary heart disease (CHD) do not include genetic, social, and lifestyle-psychological risk factors.</p><p><strong>Objective: </strong>To improve CHD risk prediction by developing and evaluating a prediction model that incorporated a polygenic risk score (PRS) and a polysocial score (PSS), the latter including social determinants of health and lifestyle-psychological factors.</p><p><strong>Design: </strong>Cohort study.</p><p><strong>Setting: </strong>United Kingdom.</p><p><strong>Participants: </strong>UK Biobank participants recruited between 2006 and 2010.</p><p><strong>Measurements: </strong>Incident CHD (myocardial infarction and/or coronary revascularization); 10-year clinical risk based on pooled cohort equations (PCE), Predicting Risk of cardiovascular disease EVENTs (PREVENT), and QRISK3; PRS (Polygenic Score Catalog identification: PGS000018) for CHD (PRS<sub>CHD</sub>); and PSS<sub>CHD</sub> from 100 related covariates. Machine-learning and time-to-event analyses and model performance indices.</p><p><strong>Results: </strong>In 388 224 participants (age, 55.5 [SD, 8.1] years; 42.5% men; 94.9% White), the hazard ratio for 1 SD increase in PSS<sub>CHD</sub> for incident CHD was 1.43 (95% CI, 1.38 to 1.49; <i>P </i><<i> </i>0.001) and for 1 SD increase in PRS<sub>CHD</sub> was 1.59 (CI, 1.53 to 1.66, <i>P </i>< 0.001). Non-White persons had higher PSS<sub>CHD</sub> than White persons. The effects of PSS<sub>CHD</sub> and PRS<sub>CHD</sub> on CHD were independent and additive. At a 10-year CHD risk threshold of 7.5%, adding PSS<sub>CHD</sub> and PRS<sub>CHD</sub> to PCE reclassified 12% of participants, with 1.86 times higher CHD risk in the up- versus down-reclassified persons and showed superior performance compared with PCE as reflected by improved net benefit while maintaining good calibration relative to the clinical risk calculators. Similar results were seen when incorporating PSS<sub>CHD</sub> and PRS<sub>CHD</sub> into PREVENT and QRISK3.</p><p><strong>Limitation: </strong>A predominantly White cohort; possible healthy participant effect and ecological fallacy.</p><p><strong>Conclusion: </strong>A PSS<sub>CHD</sub> was associated with incident CHD and its joint modeling with PRS<sub>CHD</sub> improved the performance of clinical risk calculators.</p><p><strong>Primary funding source: </strong>National Human Genome Research Institute.</p>","PeriodicalId":7932,"journal":{"name":"Annals of Internal Medicine","volume":" ","pages":"1-10"},"PeriodicalIF":19.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Recollections.","authors":"Evelyn M Potochny","doi":"10.7326/ANNALS-24-02151","DOIUrl":"https://doi.org/10.7326/ANNALS-24-02151","url":null,"abstract":"","PeriodicalId":7932,"journal":{"name":"Annals of Internal Medicine","volume":"178 1","pages":"148"},"PeriodicalIF":19.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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