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JOURNAL ARTICLE
Soo Heon Kwak, Ryan B Hernandez-Cancela, Daniel A DiCorpo, David E Condon, Jordi Merino, Peitao Wu, Jennifer A Brody, Jie Yao, Xiuqing Guo, Fariba Ahmadizar, Mariah Meyer, Murat Sincan, Josep M Mercader, Sujin Lee, Jeffrey Haessler, Ha My T Vy, Zhaotong Lin, Nicole D Armstrong, Shaopeng Gu, Noah L Tsao, Leslie A Lange, Ningyuan Wang, Kerri L Wiggins, Stella Trompet, Simin Liu, Ruth J F Loos, Renae Judy, Philip H Schroeder, Natalie R Hasbani, Maxime M Bos, Alanna C Morrison, Rebecca D Jackson, Alexander P Reiner, JoAnn E Manson, Ninad S Chaudhary, Lynn K Carmichael, Yii-Der Ida Chen, Kent D Taylor, Mohsen Ghanbari, Joyce van Meurs, Achilleas N Pitsillides, Bruce M Psaty, Raymond Noordam, Ron Do, Kyong Soo Park, J Wouter Jukema, Maryam Kavousi, Adolfo Correa, Stephen S Rich, Scott M Damrauer, Catherine Hajek, Nam H Cho, Marguerite R Irvin, James S Pankow, Girish N Nadkarni, Robert Sladek, Mark O Goodarzi, Jose C Florez, Daniel I Chasman, Susan R Heckbert, Charles Kooperberg, Josée Dupuis, Rajeev Malhotra, Paul S de Vries, Ching-Ti Liu, Jerome I Rotter, James B Meigs
OBJECTIVE: To identify genetic risk factors for incident cardiovascular disease (CVD) among people with type 2 diabetes (T2D). RESEARCH DESIGN AND METHODS: We conducted a multiancestry time-to-event genome-wide association study for incident CVD among people with T2D. We also tested 204 known coronary artery disease (CAD) variants for association with incident CVD. RESULTS: Among 49,230 participants with T2D, 8,956 had incident CVD events (event rate 18...
April 23, 2024: Diabetes Care
#2
JOURNAL ARTICLE
Tingyue Diao, Kang Liu, Junrui Lyu, Lue Zhou, Yu Yuan, Handong Yang, Tangchun Wu, Xiaomin Zhang
IMPORTANCE: The associations of changes in sleep patterns with incident cardiovascular disease (CVD) are not fully elucidated, and whether these associations are modified by genetic susceptibility remains unknown. OBJECTIVES: To investigate the associations of 5-year changes in sleep patterns with incident CVD and whether genetic susceptibility modifies these associations. DESIGN, SETTING, AND PARTICIPANTS: This prospective cohort study of the Dongfeng-Tongji cohort was conducted from 2008 to 2018 in China...
April 1, 2024: JAMA Network Open
#3
JOURNAL ARTICLE
Lajan Qasim Rahman, Ruqaya Muhammad Ghareeb
Endothelial dysfunction is the main factor that causes the onset of CAD. Leukocyte adhesion to the endothelium of the active blood artery wall has been demonstrated to be one of the early indicators of arteriosclerosis. This process is regulated by selectins. The purpose of this study is to ascertain the relationship between the polymorphisms in the E-selectin gene that have been linked to ischemic heart disease. We looked at the functional impact of the E-selectin gene polymorphism 7170G>C in Iraqi patients with IHD...
March 31, 2024: Cellular and Molecular Biology
#4
JOURNAL ARTICLE
Xiaofeng Zhu, Yihe Yang, Noah Lorincz-Comi, Gen Li, Amy R Bentley, Paul S de Vries, Michael Brown, Alanna C Morrison, Charles N Rotimi, W James Gauderman, Dabeeru C Rao, Hugues Aschard
There is a long-standing debate about the magnitude of the contribution of gene-environment interactions to phenotypic variations of complex traits owing to the low statistical power and few reported interactions to date. To address this issue, the Gene-Lifestyle Interactions Working Group within the Cohorts for Heart and Aging Research in Genetic Epidemiology Consortium has been spearheading efforts to investigate G × E in large and diverse samples through meta-analysis. Here, we present a powerful new approach to screen for interactions across the genome, an approach that shares substantial similarity to the Mendelian randomization framework...
April 22, 2024: Nature Communications
#5
JOURNAL ARTICLE
Denis Abramochkin, Bowen Li, Han Zhang, Ekaterina Kravchuk, Tatiana Nesterova, Grigory Glukhov, Anna Shestak, Elena Zaklyazminskaya, Olga S Sokolova
Brugada syndrome (BrS) is an inherited disease characterized by right precordial ST-segment elevation in the right precordial leads on electrocardiograms (ECG), and high risk of life-threatening ventricular arrhythmia and sudden cardiac death (SCD). Mutations in the responsible genes have not been fully characterized in the BrS patients, except for the SCN5A gene. We identified a new genetic variant, c.1189C>T (p.R397C), in the KCNH2 gene in the asymptomatic male proband diagnosed with BrS and mild QTc shortening...
March 2024: Biochemistry. Biokhimii︠a︡
#6
JOURNAL ARTICLE
Andreas Lange, Ivica Medugorac, Asghar Ali, Barbara Kessler, Mayuko Kurome, Valeri Zakhartchenko, Sabine E Hammer, Andreas Hauser, Joachim Denner, Britta Dobenecker, Gerhard Wess, Paul L J Tan, Olga Garkavenko, Bruno Reichart, Eckhard Wolf, Elisabeth Kemter
One of the prerequisites for successful organ xenotransplantation is a reasonable size match between the porcine organ and the recipient's organ to be replaced. Therefore, the selection of a suitable genetic background of source pigs is important. In this study, we investigated body and organ growth, cardiac function, and genetic diversity of a colony of Auckland Island pigs established at the Center for Innovative Medical Models (CiMM), LMU Munich. Male and female Auckland Island pig kidney cells (selected to be free of porcine endogenous retrovirus C) were imported from New Zealand, and founder animals were established by somatic cell nuclear transfer (SCNT)...
2024: Xenotransplantation
#7
JOURNAL ARTICLE
Alyssa B Kalustian, Richard C Tang, Michiaki Imamura
Background: Aortopulmonary window (APW) is a rare anomaly with variable morphology and associated cardiac anomalies. We evaluated impact of patient and operative factors on mid-term outcomes following APW repair. Methods: Twenty-nine patients underwent surgical APW repair at our institution from 1996 to 2022. Eight (28%) had simple APW, accompanied by only atrial septal defect or patent ductus arteriosus; 21 (72%) had complex APW with additional cardiovascular lesions, including nine with interrupted aortic arch...
April 22, 2024: World Journal for Pediatric & Congenital Heart Surgery
#8
Raul Alba, Soroush Omidvarnia, Jared J Bies, Tim Carlson, Qusay Alfaori, Thwe Htay
This case emphasizes the complexity of Prader-Willi syndrome (PWS), the need for a collaborative approach from specialists, and a closer look at the various cardiovascular complexities associated with this syndrome. While current treatments focus on managing symptoms, ongoing genetic research offers hope for more favorable outcomes. Further studies are crucial to gauge the effectiveness of these treatments for PWS patients. We detail a patient with a complex medical history of PWS, further complicated by congenital heart disease with Eisenmenger's syndrome, diabetes mellitus, pulmonary hypertension, venous insufficiency, hypothyroidism, and hyperlipidemia...
March 2024: Curēus
#9
JOURNAL ARTICLE
Fahad R Khan, Shakeel Ahmed Memon, Wasim Sajjad
Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a challenging genetic disorder marked by ventricular arrhythmias and sudden cardiac death, particularly in athletes and young adults. Despite its clinical significance, the relative effectiveness and safety of catheter ablation versus conventional management in ARVC are not fully delineated. Objective This study evaluates the efficacy and safety of catheter ablation compared to conventional management in reducing ventricular arrhythmias and improving patient outcomes over five years in ARVC patients...
March 2024: Curēus
#10
JOURNAL ARTICLE
V Baron, S T Sommer, D J Fiegle, A-K M Pfeuffer, R Peyronnet, T Volk, T Seidel
Introduction: Recent advances have enabled organotypic culture of beating human myocardial slices that are stable for weeks. However, human myocardial samples are rare, exhibit high variability and frequently originate from diseased hearts. Thus, there is a need to adapt long-term slice culture for animal myocardium. When applied to animal cardiac slices, studies in healthy or genetically modified myocardium will be possible. We present the culture of slices from rabbit hearts, which resemble the human heart in microstructure, electrophysiology and excitation-contraction coupling...
2024: Frontiers in Bioengineering and Biotechnology
#11
Lina Greenberg, W Tom Stump, Zongtao Lin, Andrea L Bredemeyer, Thomas Blackwell, Xian Han, Akiva E Greenberg, Benjamin A Garcia, Kory J Lavine, Michael J Greenberg
UNLABELLED: Familial dilated cardiomyopathy (DCM) is frequently caused by autosomal dominant point mutations in genes involved in diverse cellular processes, including sarcomeric contraction. While patient studies have defined the genetic landscape of DCM, genetics are not currently used in patient care, and patients receive similar treatments regardless of the underlying mutation. It has been suggested that a precision medicine approach based on the molecular mechanism of the underlying mutation could improve outcomes; however, realizing this approach has been challenging due to difficulties linking genotype and phenotype and then leveraging this information to identify therapeutic approaches...
April 9, 2024: bioRxiv
#12
Jacob W Hopkins, Katherine B Sulka, Machlan Sawden, Kimberly A Carroll, Ronald D Brown, Stephen C Bunnell, Alexander Poltorak, Albert Tai, Eric R Reed, Shruti Sharma
UNLABELLED: Local immune processes within aging tissues are a significant driver of aging associated dysfunction, but tissue-autonomous pathways and cell types that modulate these responses remain poorly characterized. The cytosolic DNA sensing pathway, acting through cyclic GMP-AMP synthase (cGAS) and Stimulator of Interferon Genes (STING), is broadly expressed in tissues, and is poised to regulate local type I interferon (IFN-I)-dependent and independent inflammatory processes within tissues...
April 8, 2024: bioRxiv
#13
Yu Han, Sara A Wennersten, Boomathi P Pandi, Dominic C M Ng, Edward Lau, Maggie P Y Lam
The fetal genetic program orchestrates cardiac development and the re-expression of fetal genes is thought to underlie cardiac disease and adaptation. Here, a proteomics ratio test using mass spectrometry is applied to find protein isoforms with statistically significant usage differences in the fetal vs. postnatal mouse heart. Changes in isoform usage ratios are pervasive at the protein level, with 104 significant events observed, including 88 paralog-derived isoform switching events and 16 splicing-derived isoform switching events between fetal and postnatal hearts...
April 10, 2024: bioRxiv
#14
Tara A Saleh, Jeremy Whitson, Phoebe Keiser, Praveena Prasad, Brenita C Jenkins, Tori Sodeinde, Carolyn N Mann, Peter S Rabinovitch, Melanie R McReynolds, Mariya T Sweetwyne
UNLABELLED: The mitochondrial-rich renal tubule cells are key regulators of blood homeostasis via excretion and reabsorption of metabolic waste. With age, tubules are subject to increasing mitochondrial dysfunction and declining nicotinamide adenine dinucleotide (NAD + ) levels, both hampering ATP production efficiency. We tested two mitochondrial interventions in young (6-mo) and aged (26-mo) adult male mice: elamipretide (ELAM), a tetrapeptide in clinical trials that improves mitochondrial structure and function, and nicotinamide mononucleotide (NMN), an NAD + intermediate and commercially available oral supplement...
April 13, 2024: bioRxiv
#15
Fengyan Zha, Xing Li, Hui Yin, Di Huang, Yu Du, Chuzhi Zhou
Torsades de Pointes (TdP) is a malignant polymorphic ventricular tachycardia with heart rate corrected QT interval (QTc) prolongation, which may be attributed to congenital and acquired factors. Although various acquired factors for TdP have been summarized, levosimendan administration in complex postoperative settings is relatively uncommon. Timely identification of potential causes and appropriate management may improve the outcome. Herein, we describe the postoperative case of a 56-year-old female with initial normal QTc who accepted the administration of levosimendan for heart failure, suffered TdP, cardiac arrest, and possible Takotsubo cardiomyopathy, further genetically confirmed as long QT syndrome type 1 (LQT1)...
April 30, 2024: Heliyon
#16
JOURNAL ARTICLE
S Y Zhang, S Q Gao, Z Y Wang, M Wu, Z Tian, S Y Zhang
Objective: To investigate the risk factors and long-term prognosis of major adverse cardiovascular events(MACEs) in patients with dilated cardiomyopathy (DCM). Methods: This study was a single-center retrospective cohort study. Clinical information from 300 patients with DCM hospitalized in Peking Union Medical College Hospital from April 2013 to April 2023 was collected. Based on echocardiography results, the patients were divided into two groups: isolated DCM and DCM with left ventricular non-compaction cardiomyopathy (LVNC)...
April 24, 2024: Zhonghua Xin Xue Guan Bing za Zhi
#17
JOURNAL ARTICLE
Leticia Camargo Tavares, Esteban Alexander Lopera-Maya, Ferdinando Bonfiglio, Tenghao Zheng, Trishla Sinha, Francine Zanchetta Marques, Alexandra Zhernakova, Serena Sanna, Mauro D'Amato
BACKGROUND & AIMS: Irritable bowel syndrome (IBS) shows genetic predisposition, and large-scale genome-wide association studies (GWAS) are emerging, based on heterogeneous disease definitions. We aimed at investigating the genetic architecture of IBS defined according to gold-standard Rome Criteria. METHODS: We conducted GWAS meta-analyses of Rome III IBS and its subtypes in 24,735 IBS cases and 77,149 asymptomatic controls from two independent European cohorts (UK Biobank and Lifelines)...
April 18, 2024: Cellular and Molecular Gastroenterology and Hepatology
#18
JOURNAL ARTICLE
Shazia Rasheed, Ghulam Kubra, Lubna Baqai, Muhammad Liaquat Raza, Fariha Hassan, Syed Ghazi Abbas Rizvi
BACKGROUND: Premature aortic involvement and comprehensive management strategies in familial hypercholesterolemia familial hypercholesterolemia (FH), a rare autosomal dominant genetic disorder, poses significant challenges due to its propensity for elevated low-density lipoprotein cholesterol, premature coronary heart disease, and vascular atherosclerosis. CASE PRESENTATION: Unraveling Cardiovascular Complexities: A Striking Familial Hypercholesterolemia. This case study delves into a remarkable instance of FH in a 16-year-old female who presented with chest pain and worsening dyspnea...
April 20, 2024: Egyptian Heart Journal: EHJ
#19
REVIEW
Michele D'Alto, Roberto Badagliacca, Edoardo Airò, Pietro Ameri, Paola Argiento, Andrea Garascia, Carlo Mario Lombardi, Massimiliano Mulè, Claudia Raineri, Laura Scelsi, Carmine Dario Vizza, Stefano Ghio
A comprehensive evaluation of risk, using multiple indices, is necessary to provide reliable prognostic information and guide therapy in pulmonary arterial hypertension (PAH). The current ESC/ERS guidelines suggest using a three-strata model for incident (newly diagnosed) patients and a four-strata model for prevalent patients with PAH. The four-strata model serves as a fundamental risk-stratification tool and relies on a minimal dataset of indicators that must be considered during follow-up. Nevertheless, there are still areas of vagueness and ambiguity when classifying and managing patients in the intermediate-risk category...
April 18, 2024: Vascular Pharmacology
#20
JOURNAL ARTICLE
Cristian Petolicchio, Sara Brasili, Stefano Gay, Francesco Cocchiara, Irene Campi, Luca Persani, Lara Vera, Diego Ferone, Federico Gatto
SUMMARY: The resistance to thyroid hormone syndrome (RTHβ) occurs uncommonly and requires a high level of clinical suspicion and specific investigations to reach a precise diagnosis and to avoid unnecessary and potentially harmful therapies. We report a case of a young male patient referred to our unit for SARS-CoV-2 infection and atrial fibrillation with elevated thyroid hormones and non-suppressed thyroid-stimulating hormone (TSH), for which antithyroid therapy was prescribed...
April 1, 2024: Endocrinology, Diabetes & Metabolism Case Reports
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