tbuckley/cabot-search huggingface dataset:
Abstract 15508: Random Forest Classifier-incoporated Intravascular Optical Coherence Tomography-fluorescence Lifetime Imaging (oct-flim) Provides Automated Characterization of Key Biochemical Components of Coronary Atherosclerotic Plaques
Authors: Sunwon Kim, Hyeong Soo Nam, Woo Jae Kang, Joon Woo Song, Hyun Jung Kim, Dong Oh Kang, Jeongmoo Han, Ryeoung Hyeon Kim, Wang-Yuhl Oh, Hongki Yoo, Jin Won Kim
Journal: Circulation (2020)

Introduction: Fluorescence lifetime imaging (FLIm) allows label-free biochemical characterization of atheroma, however, multispectral FLIm produces massive data throughput making image interpretation problematic. We investigated whether machine learning algorithm can be applied to intravascular OCT-FLIm for automated biochemical characterization of coronary plaques. Methods and Results: We built a fully-integrated, high-speed OCT-FLIm system and a low-profile, dual-modal imaging catheter that can provide high-resolution OCT images and correctly co-registered multispectral fluorescence lifetime (FL) readouts: ch.1 and ch.2 FL, and FL intensity ratio (ch.2/ch.1). Rapid intracoronary imaging (10-20 mm/s, 100 rps) was safely performed in atheromatous pigs. There were significant differences in FL measurements according to plaque types (high-risk vs. fibrotic: p&lt;0.001). Multispectral FL measurements sampled selectively from histologically-proven plaque components (lipid, macrophage, lipid+macrophage, SMC) were analyzed. Each component was distinguishable from one another either by difference of FLs or intensity ratio. Random forest classifier (RFC), trained with component-labeled multispectral FL dataset, accurately classified key biochemical components of atherosclerotic plaques. RFC-determined biochemical characteristics of target plaque were consistent across two repeated imaging data (intraclass correlation, p&lt;0.0001) and corroborated closely with those derived from quantitative immunohistochemistries. Conclusions: Our OCT-FLIm incorporating RFC-based systematic multispectral FL analysis could provide high-resolution plaque imaging with automated biochemical characterization in beating coronary environment. The present imaging strategy enabling comprehensive characterization of multiple components of atherosclerotic plaques will open a new avenue in the field of cardiovascular imaging.
SUSTAINED INCREASES IN IGFBP7 FOLLOWING ANTHRACYCLINE TREATMENT IN BREAST CANCER PATIENTS
Authors: Nicholas S. Wilcox, Biniyam G. Demessei, Amanda M. Smith, Joseph R. Carver, Liyong Zhang, Peter Liu, James L. Januzzi, Bonnie Ky
Journal: Journal of the American College of Cardiology (2021)
Abstract 16875: Cystatin C- versus Creatinine- Based Assessment of Renal Function in Patients Admitted With Heart Failure: Insights From DOSE, ROSE and CARRESS-HF
Authors: Yu Chiang Wang, Alberto Pinsino, Lorenzo Braghieri, Li Pang, Matteo Fabbri, Adarsh Katamreddy, Angelos Arfaras Melainis, Weijia Li, Robert Faillace
Journal: Circulation (2020)

Introduction: Serum creatinine (sCr) is routinely used to calculate estimated glomerular filtration rate (eGFR) in heart failure (HF) pts. However, changes in muscle mass may limit the accuracy of sCr as marker of renal function in this population. Cystatin C (CysC) is independent of muscle mass and provides an alternative measure of eGFR. In prior studies, higher sCr/CysC ratio has been associated with higher muscle mass. Herein, we compared CysC- and sCr-based eGFR at serial time points among pts admitted with HF. We hypothesized that muscle mass would decline during HF admission and this would result in a decrease of sCr/CysC ratio. Methods: We pooled pts from 3 trials performed in pts admitted with HF (DOSE, ROSE and CARRESS-HF). eGFR was calculated using CKD-EPI-CysC equation (eGFRCysC) and sCr-based MDRD equation (eGFRsCr). The relative difference between eGFRCysC and eGFRsCr (ΔeGFR) was calculated as follows: (eGFRCysC-eGFRsCr)/ eGFRsCr. To control for confounders, we analyzed changes in sCr/CysC ratio and in ΔeGFR among pts with samples available at both admission and a subsequent time point. Results: A total of 2849 samples were available in 841 pts (age 68 ± 13, 26% female, left ventricular ejection fraction 36 ± 17%). Compared with eGFRsCr, eGFRCysC reclassified 50% of the samples to different GFR categories, mainly to more advanced renal dysfunction (Fig. A). eGFRCysC was significantly lower than eGFRsCr at all time points (Fig. B). From time of admission to all subsequent time points, sCr/CysC ratio declined while ΔeGFR widened (all p-values&lt;0.001). At time of enrollment in CARRESS-HF, each additional day of HF admission was associated with a decline in sCr/CysC ratio of 1.5% (p=0.04). Conclusions: The use of CysC reclassifies a large proportion of pts admitted with HF to more advanced renal dysfunction when compared to sCr-based assessment. The discrepancy between CysC- and sCr-based eGFR appears to widen during HF admission, likely due to muscle mass wasting.
INFLUENCE OF BODY MASS INDEX ON THE MANAGEMENT AND OUTCOMES OF ACUTE MYOCARDIAL INFARCTION-CARDIOGENIC SHOCK IN THE UNITED STATES, 2008-2017
Authors: Shiva Ponamgi, Sri Harsha Patlolla, Venkata Alla, Saraschandra Vallabhajosyula
Journal: Journal of the American College of Cardiology (2021)
Usefulness of prioritization systems during the resumption of gastrointestinal endoscopy activity during the COVID-19 pandemic
Authors: Antonio Z. Gimeno-García, Anjara Hernández, Alberto Hernández-Bustabad, Carla Amaral, Cristina Reygosa, Dalia Morales-Arraez, Alejandro Jimenez, David Nicolás-Pérez, Manuel Hernández-Guerra
Journal: Endoscopy (2021)

During the coronavirus disease 2019 (COVID-19) first pandemic wave, gastrointestinal endoscopy activity dropped considerably and was limited to urgent or preferential endoscopy in most countries [1]. After the outbreak, a progressive resumption of health system activity was recommended. We aimed to assess the usefulness of endoscopic prioritization to detect significant lesions (Table 1 s, see online-only Supplementary material) and advanced neoplasia (adenoma ≥ 10 mm, high grade dysplasia, or cancer anywhere).
CHARACTERISTICS AND OUTCOMES OF CHRONIC TOTAL OCCLUSION (CTO) PERCUTANEOUS CORONARY INTERVENTION (PCI) ACCORDING TO RACE, INSIGHTS FROM THE PROGRESS-CTO REGISTRY
Authors: Evangelia Vemmou, Khaldoon Alaswad, Jaikirshan Khatri, Dimitrios Karmpaliotis, Ehtisham Mahmud, Anthony Doing, Philip Dattilo, Michael Koutouzis, Ioannis Tsiafoutis, Barry Uretsky, Catalin Toma, Basem Elbarouni, Michael Love, Wissam Jaber, Habib Samady, Brian Jefferson, Taral Patel, Nidal Abi-Rafeh, Bavana Rangan, Ilias Nikolakopoulos, Judit Karacsonyi, Santiago Garcia, M. Nicholas Burke, Courtney Baechler, Emmanouil Brilakis
Journal: Journal of the American College of Cardiology (2021)
MITRAL VALVE REPAIR WITH LEAFLET PRESERVATION VS. LEAFLET RESECTION AND VENTRICULAR REMODELING - A SUB-ANALYSIS OF THE RANDOMIZED CAMRA STUDY -
Authors: Makoto Hibino, Howard Leong-Poi, Subodh Verma, Amine Mazine, C David Mazer, Faeez Ali, Adrian Quan, Marc Ruel, Benoit de Varennes, Alexander Gregory, Denis Bouchard, Richard P. Whitlock, Michael Chu, Thierry Mesana, David A. Latter, Wendy Tsang, Vincent Chan, Kim Connelly
Journal: Journal of the American College of Cardiology (2021)
Abstract 11609: Point of Care Lung Ultrasound Predicts Heart Failure Readmissions
Authors: David Fridman, Allison Cohen, Glenford Robinson, Mathew Nelson, Timmy Li, Simon Maybaum, Gerin R Stevens
Journal: Circulation (2019)

Introduction: Readmissions after hospitalization for acute decompensated heart failure (ADHF) are common with nearly 25% of patients readmitted within 30 days of discharge. Lung ultrasound (LUS) is...
RIGHT VENTRICULAR OUTFLOW TRACT AND PULMONARY ARTERY GEOMETRY IN PATIENTS WITH REPAIRED TETRALOGY OF FALLOT PRIOR TO PULMONARY VALVE REPLACEMENT-CHARACTERIZATION AND LONGITUDINAL ASSOCIATION WITH BIOPROSTHETIC VALVE FUNCTION
Authors: Veronica Toro Arana, Frandics Chan, Nicole Schiavone, Sushma Reddy, Frank Hanley, Alison Marsden, Doff McElhinney
Journal: Journal of the American College of Cardiology (2021)
LEFT VENTRICULAR ASSIST DEVICE TYPE AND POST-HEART TRANSPLANT SURVIVAL: A UNOS DATABASE ANALYSIS
Authors: Osama Mahmoud, Marc P. Pelletier, Monique Robinson, Michael Zacharias, Yakov Elgudin, Meisam Moghbelli, Eiran Gorodeski, Yasir Abu-Omar, Chantal ElAmm
Journal: Journal of the American College of Cardiology (2021)
DETECTION AND DIFFERENTIATION OF CARDIAC AMYLOIDOSIS USING [124]I-P5+14 PET/CT IMAGING AND THE CORRELATION WITH CLINICAL BIOMARKERS
Authors: Jonathan Wall, Robert Eric Heidel, Emily B. Martin, Alan C. Stuckey, Bryan A. Whittle, Dustin Powell, Ronald Lands, Stephen J. Kennel
Journal: Journal of the American College of Cardiology (2021)
Lucio’s Phenomenon
Authors: Mahroo Tajalli, Carlos G. Wambier
Journal: New England Journal of Medicine (2021)

A 48-year-old man presented with fever and blistering skin lesions. Multiple acid-fast bacilli were detected on biopsy of the skin, and a diagnosis of Lucio’s phenomenon, a reaction that occurs in patients with diffuse lepromatous leprosy, was made.
Dual Tachycardia in a Middle-aged Woman
Authors: Aayush K. Singal, Raghav Bansal, Sandeep Seth
Journal: JAMA Internal Medicine (2021)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA Internal Medicine HomeNew OnlineCurrent IssueFor Authors Podcast Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA Internal Medicine journal
Effect of nusinersen on respiratory function in paediatric spinal muscular atrophy types 1–3
Authors: Archana Chacko, Peter D Sly, Robert S Ware, Nelufa Begum, Sean Deegan, Nicole Thomas, Leanne M Gauld
Journal: Thorax (2021)

Nusinersen is used in spinal muscular atrophy (SMA) to improve peripheral muscle function; however, respiratory effects are largely unknown.To assess the effects of nusinersen on respiratory function in paediatric SMA during first year of treatment.A prospective observational study in paediatric patients with SMA who began receiving nusinersen in Queensland, Australia, from June 2018 to December 2019. Outcomes assessed were the age-appropriate respiratory investigations: spirometry, oscillometry, sniff nasal inspiratory pressure, mean inspiratory pressure, mean expiratory pressure, lung clearance index, as well as polysomnography (PSG) and muscle function testing. Lung function was collected retrospectively for up to 2 years prior to nusinersen initiation. Change in lung function was assessed using mixed effects linear regression models, while PSG and muscle function were compared using the Wilcoxon signed-rank test.Twenty-eight patients (15 male, aged 0.08-18.58 years) were enrolled: type 1 (n=7); type 2 (n=12); type 3 (n=9). The annual rate of decline in FVC z-score prior to nusinersen initiation was -0.58 (95% CI -0.75 to -0.41), and post initiation was -0.25 (95% CI -0.46 to -0.03), with a significant difference in rate of decline (0.33 (95% CI 0.02 to 0.66) (p=0.04)). Most lung function measures were largely unchanged in the year post nusinersen initiation. The total Apnoea-Hypopnoea Index (AHI) was reduced from a median of 5.5 events/hour (IQR 2.1-10.1) at initiation to 2.7 events/hour (IQR 0.7-5.3) after 1 year (p=0.02). All SMA type 1% and 75% of SMA types 2 and 3 had pre-defined peripheral muscle response to nusinersen.The first year of nusinersen treatment saw reduced lung function decline (especially in type 2) and improvement in AHI.
A Role for Genetics in Racial Disparities of Therapy-Related Cardiomyopathy
Authors: Austin L. Brown, Melissa A. Richard
Journal: Cancer Research (2021)

Abstract Cardiomyopathy is a significant source of morbidity and early mortality among survivors of childhood cancer, and may disproportionately affect minorities. However, there have been few studies evaluating these outcomes among racially and ethnically diverse survivor populations. A study by Sapkota and colleagues systematically characterizes disparities in the incidence of treatment-associated cardiomyopathy on the basis of genetic ancestry and investigates genetic variants responsible for this inequality. The noteworthy findings include a disproportionate risk of cardiomyopathy among African-American childhood cancer survivors and the identification of inherited genetic variants, which may confer increased susceptibility to cardiomyopathy among these individuals. Although larger studies are needed to confirm these findings, incorporating this knowledge into clinical risk profiles may help focus attention on patient populations who are particularly vulnerable to adverse cardiovascular outcomes and most likely to benefit from preventive strategies. See related article by Sapkota et al., p. 2556
Health Disparities, Systemic Racism, and Failures of Cultural Competence
Authors: Jeffrey T. Berger, Dana Ribeiro Miller
Journal: The American Journal of Bioethics (2021)

Health disparities are primarily driven by structural inequality including systemic racism. Medical educators, led by the AAMC, have tended to minimize these core drivers of health disparities. Instead, it has adopted a culture-based agenda through the framework of cultural competence to address disparities despite a paucity of supporting data. Cultural competence is ethnocentric in orientation and its content sustains biases that are long-standing in health care. Moreover, Cultural competence is based on a number of flawed assumptions and is not structured around a set of clearly stated ethical values. In this paper, we will demonstrate ways in which Cultural competence reflects embedded ethnocentrism, perpetuates entrenched biases, and fails to recognize the depth and breadth of systemic racism as these relate to the stated goal of Cultural competence—the mitigation of health disparities. In addition, we offer a reframed approach to health disparities in medical education.
WORSENING BLOOD PRESSURE CONTROL IS ASSOCIATED WITH DECREASED CARDIAC MECHANICS IN EARLY STAGE HER2 POSITIVE BREAST CANCER PATIENTS
Authors: Kimberly Y. Chow, Fei Fei Gong, Nikita Patel, Haydee Ramirez, Milica Marion, Abigail Baldridge, Nausheen Akhter
Journal: Journal of the American College of Cardiology (2021)
THE PROGNOSTIC VALUE OF PERICORONARY ADIPOSE TISSUE CT-ATTENUATION BEYOND HIGH-RISK PLAQUES, PLAQUE VOLUME, AND MYOCARDIAL ISCHEMIA
Authors: Pepijn Van Diemen, Michiel Bom, Roel Driessen, Stefan Schumacher, Henk Everaars, Ruben de Winter, Peter van de Ven, Moti Freiman, Eran Langzam, Liran Goshen, Dennis Heijtel, James Min, Jonathon Leipsic, Pieter Raijmakers, Albert van Rossum, Ibrahim Danad, Paul Knaapen
Journal: Journal of the American College of Cardiology (2021)
EPICARDIAL AND MICROVASCULAR DYSFUNCTION WITH FRACTIONAL FLOW RESERVE AND INSTANTANEOUS WAVE-FREE RATIO DIAGNOSIS IN FLOW-LIMITING CORONARY ARTERIES FROM IDEAL AND DEFINE-FLOW
Authors: Yuetsu Kikuta, Valerie Steghuis, Ricardo Petraco Da Cunha, Yasutsugu Shiono, Hernán Mejía-Rentería, Christopher Cook, Mauro Echavarría-Pinto, Sayan Sen, Tim van de Hoef, Guus de Waard, Sukhjinder Nijjer, Akiko Maehara, Hideo Takebayashi, Niels Van Royen, Javier Escaned, Jan Piek, Justin Davies
Journal: Journal of the American College of Cardiology (2021)
THROMBOLYSIS OF A MECHANICAL SYSTEMIC ATRIOVENTRICULAR VALVE IN CONGENITALLY CORRECTED TRANSPOSITION OF GREAT VESSELS
Authors: Mohamad Karnib, Scott Janus, Mohammed Najeeb Osman, Anshul Badhwar, Jamal Hajjari, Cristian Baeza, Guilherme Attizzani, Irfan Helmy, Varun Sundaram
Journal: Journal of the American College of Cardiology (2021)
Prospective evaluation of cardiac function in children undergoing BMT: Preliminary analysis of EBMT multicenter study
Authors: Cornelio Uderzo, Paola Corti, Paola De Lorenzo, Adriana Balduzzi, Giorgio Dini, Stefania Varotto, Chiara Messina, Franco Locatelli, Paola Sparano, Gerard Souillet, Felix Zintl, Amanto Verdeguer, Katherine Nysom, Christine Bender-Goetze, Sonia Bonanomi, Alessandro Tagliabue, Barbara Nicolini, Christian Urban, Gérard Socié, Attilio Rovelli
Journal: Blood (2000)
IMPACT OF HF HOSPITALIZATION ON MORTALITY OUTCOMES IN PATIENTS WITH HEART FAILURE WITH STABLE MID-RANGE EJECTION FRACTION
Authors: Mohamad Khaled Soufi, Joseph R. McFarland, Rishabh R. Jain, Milin N. Rana, Simon Pinsky, Alexander Dang, Wissam Khalife
Journal: Journal of the American College of Cardiology (2021)
A NOVEL STRATEGY TO ENABLE TAVR FOR SEVERE AORTIC STENOSIS IN THE SETTING OF A PERSISTENT LAA FILLING DEFECT
Authors: Malcolm Anastasius, Parasuram Krishnamoorthy, Sunny Goel, Faisul Saiful, Gupreet Johal, Gilbert Tang, Samin Sharma, Annapoorna Kini, Stamatios Lerakis
Journal: Journal of the American College of Cardiology (2021)
NATIONALLY REPRESENTATIVE OUTCOMES OF PREOPERATIVE TRANSCATHETER AORTIC VALVE REPLACEMENT
Authors: Paige Newell, Sameer Hirji, Sainath Asokan, Edward Percy, Morgan Harloff, Siobhan McGurk, Mariam Kerolos, Ashraf Sabe, Pinak Shah, Tsuyoshi Kaneko
Journal: Journal of the American College of Cardiology (2021)
DUAL ANTIPLATELET THERAPY IN ACUTE ISCHEMIC STROKE OR TRANSIENT ISCHEMIC ATTACK A SYSTEMATIC REVIEW AND META-ANALYSIS OF RANDOMIZED CONTROLLED TRIALS
Authors: Giorgio Medranda, Cheng Zhang, Gheorghe Doros, Charan Yerasi, Brian Case, William Weintraub, Ron Waksman
Journal: Journal of the American College of Cardiology (2021)
Covalent functionalization of decellularized tissues accelerates endothelialization
Authors: Eleonora Dal Sasso, Annj Zamuner, Andrea Filippi, Filippo Romanato, Tiziana Palmosi, Luca Vedovelli, Dario Gregori, José Luís Gómez Ribelles, Teresa Russo, Antonio Gloria, Laura Iop, Gino Gerosa, Monica Dettin
Journal: Bioactive Materials (2021)

In the field of tissue regeneration, the lack of a stable endothelial lining may affect the hemocompatibility of both synthetic and biological replacements. These drawbacks might be prevented by specific biomaterial functionalization to induce selective endothelial cell (EC) adhesion. Decellularized bovine pericardia and porcine aortas were selectively functionalized with a REDV tetrapeptide at 10−5 M and 10−6 M working concentrations. The scaffold-bound peptide was quantified and REDV potential EC adhesion enhancement was evaluated in vitro by static seeding of human umbilical vein ECs. The viable cells and MTS production were statistically higher in functionalized tissues than in control. Scaffold histoarchitecture, geometrical features, and mechanical properties were unaffected by peptide anchoring. The selective immobilization of REDV was effective in accelerating ECs adhesion while promoting proliferation in functionalized decellularized tissues intended for blood-contacting applications.
TGF-β loaded exosome enhances ischemic wound healing <i>in vitro</i> and <i>in vivo</i>
Authors: Ao Shi, Jialun Li, Xinyuan Qiu, Michael Sabbah, Soulmaz Boroumand, Tony Chieh-Ting Huang, Chunfeng Zhao, Andre Terzic, Atta Behfar, Steven L Moran
Journal: Theranostics (2021)

With over seven million infections and $25 billion treatment cost, chronic ischemic wounds are one of the most serious complications in the United States. The controlled release of bioactive factor enriched exosome from finbrin gel was a promising strategy to promote wound healing.
Cutting the fat: advances and challenges in sleep apnoea genetics
Authors: Heming Wang, Matthew O. Goodman, Tamar Sofer, Susan Redline
Journal: European Respiratory Journal (2021)

<b>Comments on a FinnGen sleep apnoea genetics study: need to disambiguate causal and pleiotropic associations with obesity/cardiometabolic diseases and opportunities for biobanks (and deeper phenotyping) to discover new treatments and disease subtypes</b>https://bit.ly/3dntk0I
INCIDENCE OF OBESITY, ACQUIRED CARDIOVASCULAR RISK FACTORS &amp; ADVERSE CLINICAL OUTCOMES IN PATIENTS WITH REPAIREDTETRALOGY OFFALLOT(TOF)INCIDENCE OF OBESITY, ACQUIRED CARDIOVASCULAR RISK FACTORS &amp; ADVERSE CLINICAL OUTCOMES IN PATIENTS WITH REPAIREDTETRALOGY OF FALLOT
Authors: Justin M. Harrell, Vincent Sorrell, Andrew Leventhal, Preeti Ramachandran, Douglas Schneider
Journal: Journal of the American College of Cardiology (2021)
Multi-tissue neocortical transcriptome-wide association study implicates 8 genes across 6 genomic loci in Alzheimer’s disease
Authors: Jake Gockley, Kelsey S. Montgomery, William L. Poehlman, Jesse C. Wiley, Yue Liu, Ekaterina Gerasimov, Anna K. Greenwood, Solveig K. Sieberts, Aliza P. Wingo, Thomas S. Wingo, Lara M. Mangravite, Benjamin A. Logsdon
Journal: Genome Medicine (2021)

Abstract Background Alzheimer’s disease (AD) is an incurable neurodegenerative disease currently affecting 1.75% of the US population, with projected growth to 3.46% by 2050. Identifying common genetic variants driving differences in transcript expression that confer AD risk is necessary to elucidate AD mechanism and develop therapeutic interventions. We modify the FUSION transcriptome-wide association study (TWAS) pipeline to ingest gene expression values from multiple neocortical regions. Methods A combined dataset of 2003 genotypes clustered to 1000 Genomes individuals from Utah with Northern and Western European ancestry (CEU) was used to construct a training set of 790 genotypes paired to 888 RNASeq profiles from temporal cortex (TCX = 248), prefrontal cortex (FP = 50), inferior frontal gyrus (IFG = 41), superior temporal gyrus (STG = 34), parahippocampal cortex (PHG = 34), and dorsolateral prefrontal cortex (DLPFC = 461). Following within-tissue normalization and covariate adjustment, predictive weights to impute expression components based on a gene’s surrounding cis -variants were trained. The FUSION pipeline was modified to support input of pre-scaled expression values and support cross validation with a repeated measure design arising from the presence of multiple transcriptome samples from the same individual across different tissues. Results Cis -variant architecture alone was informative to train weights and impute expression for 6780 (49.67%) autosomal genes, the majority of which significantly correlated with gene expression; FDR &lt; 5%: N = 6775 (99.92%), Bonferroni: N = 6716 (99.06%). Validation of weights in 515 matched genotype to RNASeq profiles from the CommonMind Consortium (CMC) was (72.14%) in DLPFC profiles. Association of imputed expression components from all 2003 genotype profiles yielded 8 genes significantly associated with AD (FDR &lt; 0.05): APOC1, EED, CD2AP, CEACAM19, CLPTM1, MTCH2, TREM2, and KNOP1. Conclusions We provide evidence of cis-genetic variation conferring AD risk through 8 genes across six distinct genomic loci. Moreover, we provide expression weights for 6780 genes as a valuable resource to the community, which can be abstracted across the neocortex and a wide range of neuronal phenotypes.
LEFT VENTRICULAR OUTFLOW TRACT CALCIUM SCORE PREDICTS THE DEVELOPMENT OF PARAVALVULAR LEAK AFTER TRANSCATHETER AORTIC VALVE REPLACEMENT (TAVR)
Authors: Daneyal Syed, Khaled Dajani, Menhel Kinno, Mark Rabbat, Ferdinand Leya, John Lopez, Mushabbar Syed
Journal: Journal of the American College of Cardiology (2021)