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JOURNAL ARTICLE
Bohang Chen, Chuqiao Wang, Wenjie Li
OBJECTIVE: Although several observational studies have linked serum albumin to cardiovascular disease and considered it as an important biomarker, little is known about whether increasing or maintaining serum albumin levels can effectively improve the prognosis of patients with atrial fibrillation. Therefore, this study aims to further explore the causal relationship between serum albumin and atrial fibrillation and its potential mechanism. METHOD: Using data from large-scale genome-wide association studies, we conducted a two-sample Mendelian randomization (MR) analysis and a mediation MR analysis, using serum albumin as the exposure variable and atrial fibrillation as the outcome variable...
2024: Frontiers in Cardiovascular Medicine
#2
Heidi Ostler, Carolyn Fall, Howaida El-Said, Henri Justino, Shylah Haldeman, Jeanne Carroll, Rohit Rao
Heritable pulmonary arterial hypertension (HPAH) is a rare progressive condition that includes patients with an identified genetic cause of pulmonary arterial hypertension (PAH). HPAH and idiopathic PAH (IPAH) have an estimated combined incidence of 0.5-0.9 cases per million children-years. Several pathogenic variants have been associated with HPAH in children and adults, including genes BMPR2 , TBX4 , and ACVRL1 , and more rarely with variants in genes such as SOX17 . HPAH is often difficult to manage and has poor prognosis despite advances in medical therapy with many patients progressing to lung transplantation, right heart failure and death...
April 2024: Pulmonary Circulation
#3
REVIEW
Sahil Zaveri, Mohamed Chahine, Mohamed Boutjdir
The limited literature and increasing interest in studies on cardiac electrophysiology, explicitly focusing on cardiac ion channelopathies and sudden cardiac death in diverse populations, has prompted a comprehensive examination of existing research. Our review specifically targets Hispanic/Latino and Indigenous populations, which are often underrepresented in healthcare studies. This review encompasses investigations into genetic variants, epidemiology, etiologies, and clinical risk factors associated with arrhythmias in these demographic groups...
April 23, 2024: Journal of Cardiovascular Electrophysiology
#4
JOURNAL ARTICLE
Maryam Pourirahim, Golnaz Houshmand, Leyla Abdolkarimi, Majid Maleki, Samira Kalayinia
BACKGROUND: Neurofibromatosis type I (NF1) is a genetic disorder characterized by the tumor's development in nerve tissue. Complications of NF1 can include pigmented lesions, skin neurofibromas, and heart problems such as cardiomyopathy. In this study, we performed whole-exome sequencing (WES) on an Iranian patient with NF1 to identify the genetic cause of the disease. METHODS: Following clinical assessment, WES was used to identify genetic variants in a family with a son suffering from NF1...
April 23, 2024: BMC Cardiovascular Disorders
#5
REVIEW
Puck J Peltenburg, Harry Gibson, Arthur A M Wilde, Christian van der Werf, Sally-Ann B Clur, Nico A Blom
Despite its low prevalence, the potential diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT) should be at the forefront of a paediatric cardiologists mind in children with syncope during exercise or emotions. Over the years, the number of children with a genetic diagnosis of CPVT due to a (likely) pathogenic RYR2 variant early in life and prior to the onset of symptoms has increased due to cascade screening programmes. Limited guidance for this group of patients is currently available...
April 24, 2024: Cardiology in the Young
#6
REVIEW
Zeeshan Afzal, Huili Cao, Mueed Chaudhary, Himaja Dutt Chigurupati, Sivaram Neppala, Waleed Alruwaili, Maan Awad, Darshan Sandesara, Muzammil Siddique, Ali Farman, Fnu Zafrullah, Yasar Sattar
Cardiovascular disease (CVD) remains a significant global health challenge despite advancements in prevention and treatment. Elevated Lipoprotein(a) [Lp(a)] levels have emerged as a crucial risk factor for CVD and aortic stenosis, affecting approximately 20% of the global population. Research over the last decade has established Lp(a) as an independent genetic contributor to CVD and aortic stenosis, beginning with Kare Berg's discovery in 1963. This has led to extensive exploration of its molecular structure and pathogenic roles...
April 21, 2024: Current Problems in Cardiology
#7
JOURNAL ARTICLE
Bobby G Ng, Hudson H Freeze, Nastassja Himmelreich, Nenad Blau, Carlos R Ferreira
We have identified 200 congenital disorders of glycosylation (CDG) caused by 189 different gene defects and have proposed a classification system for CDG based on the mode of action. This classification includes 8 categories: 1. Disorders of monosaccharide synthesis and interconversion, 2. Disorders of nucleotide sugar synthesis and transport, 3. Disorders of N-linked protein glycosylation, 4. Disorders of O-linked protein glycosylation, 5. Disorders of lipid glycosylation, 6. Disorders of vesicular trafficking, 7...
April 10, 2024: Molecular Genetics and Metabolism
#8
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
#9
JOURNAL ARTICLE
Danielle Novetsky Friedman, Joanne F Chou, Jeanne M Clark, Chaya S Moskowitz, Jennifer S Ford, Gregory T Armstrong, Nidha Z Mubdi, Aaron McDonald, Paul C Nathan, Charles A Sklar, Lakshmi V Ramanathan, Leslie L Robison, Kevin C Oeffinger, Emily S Tonorezos
BACKGROUND: Obesity is prevalent in childhood cancer survivors and interacts with cancer treatments to potentiate risk for cardiovascular (CV) death. We tested a remote weight-loss intervention that was effective among adults with CV risk factors in a cohort of adult survivors of childhood acute lymphoblastic leukemia (ALL) with overweight/obesity. METHODS: In this phase 3 efficacy trial, survivors of ALL enrolled in the Childhood Cancer Survivor Study with body mass index (BMI)≥25 kg/m2 were randomized to a remotely-delivered weight-loss intervention versus self-directed weight loss, stratified by history of cranial radiotherapy (CRT)...
April 23, 2024: Cancer Epidemiology, Biomarkers & Prevention
#10
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
#11
JOURNAL ARTICLE
Prateek C Gowda, Alessio Gasperetti, Stefan L Zimmerman
We present a case of a young patient with chest pain. Labs and cardiac imaging were suspicious for acute myocarditis. Genetic testing revealed a diagnosis of desmoplakin cardiomyopathy. Desmoplakin cardiomyopathy may be considered in patients with recurrent acute myocarditis or a family history of cardiac disease to avoid the potential for misdiagnosis.
April 23, 2024: International Journal of Cardiovascular Imaging
#12
JOURNAL ARTICLE
Christopher P Jordan, Akos Berthold, Jason Bonomo
PURPOSE OF REVIEW: The incorporation of genetic counseling and testing is essential to evaluation and management of thoracic aortic disease in patients under 60 years of age and those with family histories suspicious for heritable thoracic aortic disease and disorders associated with increased risk for acute type-A aortic dissection. RECENT FINDINGS: As many as 20% of individuals with thoracic aortic disease under the age of 60 years have autosomal dominant patterns of inheritance...
April 22, 2024: Current Opinion in Cardiology
#13
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
#14
REVIEW
Gursharan Kaur, Rajinder Kaur, Gurleen Kaur Sodhi, Nancy George, Santosh Kumar Rath, Harleen Kaur Walia, Vagish Dwibedi, Sanjai Saxena
In modern times, medicine is predominantly based on evidence-based practices, whereas in ancient times, indigenous people relied on plant-based medicines with factual evidence documented in ancient books or folklore that demonstrated their effectiveness against specific infections. Plants and microbes account for 70% of drugs approved by the USFDA (U.S. Food and Drug Administration). Stilbenes, polyphenolic compounds synthesized by plants under stress conditions, have garnered significant attention for their therapeutic potential, bridging ancient wisdom with modern healthcare...
April 22, 2024: Archives of Microbiology
#15
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
#16
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
#17
REVIEW
Gissette Reyes-Soffer, Calvin Yeang, Erin D Michos, Wess Boatwright, Christie M Ballantyne
High levels of lipoprotein(a) [Lp(a)] are causal for atherosclerotic cardiovascular disease (ASCVD). Lp(a) is the most prevalent inherited dyslipidemia and strongest genetic ASCVD risk factor. This risk persists in the presence of at target, guideline-recommended, LDL-C levels and adherence to lifestyle modifications. Epidemiological and genetic evidence supporting its causal role in ASCVD and calcific aortic stenosis continues to accumulate, although various facets regarding Lp(a) biology (genetics, pathophysiology, and expression across race/ethnic groups) are not yet fully understood...
June 2024: American journal of preventive cardiology
#18
JOURNAL ARTICLE
Siqun Xu, Jieya Wei, Jing Xie
Lipid droplets are dynamic multifunctional organelles composed of a neutral lipid core and a phospholipid monolayer membrane modified by a specific set of proteins. PAT family proteins are the most characteristic lipid droplet proteins, playing an important role in regulating lipid droplet structure, function, and metabolism. The biogenesis of lipid droplets involves neutral lipid synthesis and the nucleation, budding, and growth of the lipid droplets. Lipid droplets not only serve as the energy metabolism reserve of cells but also participate in intracellular signal transduction and the development of inflammation and tumor...
March 20, 2024: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
#19
Christal N Davis, Yousef Khan, Sylvanus Toikumo, Zeal Jinwala, Dorret I Boomsma, Daniel F Levey, Joel Gelernter, Rachel L Kember, Henry R Kranzler
There is considerable comorbidity across externalizing and internalizing behavior dimensions of psychopathology. We applied genomic structural equation modeling (gSEM) to genome-wide association study (GWAS) summary statistics to evaluate the factor structure of externalizing and internalizing psychopathology across 16 traits and disorders among European-ancestry individuals (n's = 16,400 to 1,074,629). We conducted GWAS on factors derived from well-fitting models. Downstream analyses served to identify biological mechanisms, explore drug repurposing targets, estimate genetic overlap between the externalizing and internalizing spectra, and evaluate causal effects of psychopathology liability on physical health...
April 9, 2024: medRxiv
#20
JOURNAL ARTICLE
Sai Vaishnavi V, Mahadevamma Lingaiah, Bala Murali Mohan Sanku, Sunil Kumar Kadri, Manoj Kumar Mudigubba
L-arginine is a semi-essential amino acid that plays a critical role in various physiological processes, such as protein synthesis, wound healing, immune function, and cardiovascular regulation. The use of L-arginine in pregnancy has been an emerging topic in the field of pharmacogenomics. L-arginine, an amino acid, plays a crucial role in the production of nitric oxide, which is necessary for proper placental development and fetal growth. Studies have shown that L-arginine supplementation during pregnancy can have positive effects on fetal growth, maternal blood pressure, and the prevention of preeclampsia...
April 19, 2024: Current Gene Therapy
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