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Cardiac precision medicine

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https://www.readbyqxmd.com/read/28390761/the-aav-mediated-and-rna-guided-crispr-cas9-system-for-gene-therapy-of-dmd-and-bmd
#1
REVIEW
Jing-Zhang Wang, Peng Wu, Zhi-Min Shi, Yan-Li Xu, Zhi-Jun Liu
Mutations in the dystrophin gene (Dmd) result in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), which afflict many newborn boys. In 2016, Brain and Development published several interesting articles on DMD treatment with antisense oligonucleotide, kinase inhibitor, and prednisolone. Even more strikingly, three articles in the issue 6271 of Science in 2016 provide new insights into gene therapy of DMD and BMD via the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9)...
April 5, 2017: Brain & Development
https://www.readbyqxmd.com/read/28365182/hopes-and-disappointments-with-antiarrhythmic-drugs
#2
A John Camm
Ventricular arrhythmias such as sustained ventricular tachycardia and ventricular fibrillation account for two thirds of sudden cardiac deaths. Most ventricular tachyarrhythmias have well understood mechanisms such that it is theoretically possible to conceive of an antiarrhythmic drug-based intervention that would prevent arrhythmias that cause sudden cardiac death. Pharmaceutical agents which interfere with ion channel activity are known as antiarrhythmic drugs. Acute experiments showing antiarrhythmic effects in the basic science laboratory have often not translated into clinical effectiveness...
March 16, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28346329/cardiac-computed-tomography-radiomics-a-comprehensive-review-on-radiomic-techniques
#3
Márton Kolossváry, Miklós Kellermayer, Béla Merkely, Pál Maurovich-Horvat
Radiologic images are vast three-dimensional data sets in which each voxel of the underlying volume represents distinct physical measurements of a tissue-dependent characteristic. Advances in technology allow radiologists to image pathologies with unforeseen detail, thereby further increasing the amount of information to be processed. Even though the imaging modalities have advanced greatly, our interpretation of the images has remained essentially unchanged for decades. We have arrived in the era of precision medicine where even slight differences in disease manifestation are seen as potential target points for new intervention strategies...
March 24, 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28329105/medical-three-dimensional-printing-opens-up-new-opportunities-in-cardiology-and-cardiac-surgery
#4
Thomas Bartel, Andrew Rivard, Alejandro Jimenez, Carlos A Mestres, Silvana Müller
Advanced percutaneous and surgical procedures in structural and congenital heart disease require precise pre-procedural planning and continuous quality control. Although current imaging modalities and post-processing software assists with peri-procedural guidance, their capabilities for spatial conceptualization remain limited in two- and three-dimensional representations. In contrast, 3D printing offers not only improved visualization for procedural planning, but provides substantial information on the accuracy of surgical reconstruction and device implantations...
February 16, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28277918/concordance-of-fetal-echocardiography-in-the-diagnosis-of-congenital-cardiac-disease-utilizing-updated-guidelines
#5
Marijo Aguilera, Kirsten Dummer
OBJECTIVE: We sought to examine the concordance of prenatally diagnosed congenital cardiac disease with postnatal echocardiography. STUDY DESIGN: Patients who underwent fetal echocardiograms performed by pediatric cardiologists at a single referral center from January to December 2014 were reviewed. Fetal echocardiography exams were performed in accordance with guidelines by the American Institute of Ultrasound in Medicine (AIUM) and the American Heart Association (AHA) guidelines (2013 and 2014, respectively)...
March 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28253841/identification-of-established-arrhythmogenic-right-ventricular-cardiomyopathy-mutation-in-a-patient-with-the-contrasting-phenotype-of-hypertrophic-cardiomyopathy
#6
Matthew Neil Bainbridge, Lili Li, Yanli Tan, Benjamin Y Cheong, Ali J Marian
BACKGROUND: Advances in the nucleic acid sequencing technologies have ushered in the era of genetic-based "precision medicine". Applications of the genetic discoveries to practice of medicine, however, are hindered by phenotypic variability of the genetic variants. The report illustrates extreme pleiotropic phenotypes associated with an established causal mutation for hereditary cardiomyopathy. CASE PRESENTATION: We report a 61-year old white female who presented with syncope and echocardiographic and cardiac magnetic resonance (CMR) imaging findings consistent with the diagnosis of hypertrophic cardiomyopathy (HCM)...
March 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28203792/accuracy-and-precision-of-non-invasive-cardiac-output-monitoring-devices-in-perioperative-medicine-a-systematic-review-and-meta-analysis%C3%A2
#7
A Joosten, O Desebbe, K Suehiro, L S-L Murphy, M Essiet, B Alexander, M-O Fischer, L Barvais, L Van Obbergh, D Maucort-Boulch, M Cannesson
No abstract text is available yet for this article.
March 1, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/28157411/novel-lipidomic-biomarkers-in-hyperlipidemia-and-cardiovascular-diseases-an-integrative-biology-analysis
#8
Sneha Rai, Sonika Bhatnagar
Lipidomics is a new frontier of omics research and offers much promise for new-generation biomarkers for common complex phenotypes such as hyperlipidemia (HL) and cardiovascular diseases (CVDs). HL is a disorder characterized by increased levels of blood lipids and is a well-established risk factor for CVD. Traditional clinical markers for prognosis of hyperlipidemic individuals are inadequate to forecast or diagnose cardiac events. In this expert review, lipidomic profiles from recent HL and CVD studies were compared with the normolipidemic profile prepared from the Standard Reference Material...
March 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28135565/dissecting-clinical-heterogeneity-in-neurofibromatosis-type-1
#9
Courtney L Monroe, Sonika Dahiya, David H Gutmann
Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder in which affected children and adults are predisposed to the development of benign and malignant nervous system tumors. Caused by a germline mutation in the NF1 tumor suppressor gene, individuals with NF1 are prone to optic gliomas, malignant gliomas, neurofibromas, and malignant peripheral nerve sheath tumors, as well as behavioral, cognitive, motor, bone, cardiac, and pigmentary abnormalities. Although NF1 is a classic monogenic syndrome, the clinical features of the disorder and their impact on patient morbidity are variable, even within individuals who bear the same germline NF1 gene mutation...
January 24, 2017: Annual Review of Pathology
https://www.readbyqxmd.com/read/28057790/novel-risk-markers-and-risk-assessments-for-cardiovascular-disease
#10
REVIEW
Mark R Thomas, Gregory Y H Lip
The use of risk markers has transformed cardiovascular medicine, exemplified by the routine assessment of troponin, for both diagnosis and assessment of prognosis in patients with chest pain. Clinical risk factors form the basis for risk assessment of cardiovascular disease and the addition of biochemical, cellular, and imaging parameters offers further refinement. Identifying novel risk factors may allow greater risk stratification and a steady, but gradual progression toward precision medicine. Indeed, the generation of data in this area of research is explosive and when combined with new technologies and techniques provides the potential for more refined, targeted approaches to cardiovascular medicine...
January 6, 2017: Circulation Research
https://www.readbyqxmd.com/read/28057368/genomic-translational-research-paving-the-way-to-individualized-cardiac-functional-analyses-and-personalized-cardiology
#11
REVIEW
Ares Pasipoularides
For most of Medicine's past, the best that physicians could do to cope with disease prevention and treatment was based on the expected response of an average patient. Currently, however, a more personalized/precise approach to cardiology and medicine in general is becoming possible, as the cost of sequencing a human genome has declined substantially. As a result, we are witnessing an era of precipitous advances in biomedicine and bourgeoning understanding of the genetic basis of cardiovascular and other diseases, reminiscent of the resurgence of innovations in physico-mathematical sciences and biology-anatomy-cardiology in the Renaissance, a parallel time of radical change and reformation of medical knowledge, education and practice...
March 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28057088/-effect-of-cardiac-biomarkers-in-the-development-of-precision-medicine
#12
M Y Liu
No abstract text is available yet for this article.
December 20, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28034298/effective-agents-targeting-the-mitochondria-and-apoptosis-to-protect-the-heart
#13
Eltyeb Abdelwahid, Aurimas Stulpinas, Audrone Kalvelyte
A wide variety of agents have been traditionally used in cardiovascular medicine worldwide and their precise mechanisms of action have been demonstrated to be largely related to the cardiomyocyte mitochondria and apoptosis. Abnormalities in the structure and function of the mitochondria and mutations in mitochondrial DNA can decrease energy production, alter the redox system, impair calcium homeostasis, and induce the mitochondrial permeability transition pore (MPTP), causing cell death. All of these data provide evidence of mitochondrial signaling pathways as targets to downregulate cardiac cell apoptosis and thus to prevent and treat cardiovascular diseases...
December 29, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27993573/clinical-utility-of-a-precision-medicine-test-evaluating-outpatients-with-suspected-obstructive-coronary-artery-disease
#14
Joseph A Ladapo, Matt Budoff, David Sharp, Michael Zapien, Lin Huang, Bruce Maniet, Lee Herman, Mark Monane
BACKGROUND: Identifying patients with obstructive coronary artery disease can be challenging for primary care physicians. Advances in precision medicine may help augment clinical tools and redefine the paradigm for evaluating coronary artery disease in the outpatient setting. A blood-based age/sex/gene expression score (ASGES) incorporating key features of precision medicine has shown clinical validity with a 96% negative predictive value and 89% sensitivity in estimating a symptomatic patient's current likelihood of obstructive coronary artery disease...
December 16, 2016: American Journal of Medicine
https://www.readbyqxmd.com/read/27901331/clinical-indices-and-biomarkers-for-perioperative-cardiac-risk-stratification-an-update
#15
Radmilo J Janković, Danica Z Marković, Dušan T Sokolović, Ivana Zdravković, Massimiliano Sorbello
European Society of Cardiology (ESC)/ European Society of Anesthesiology (ESA) highlighted that anesthesiologist has a leading role in perioperative cardiovascular assessment and management in the year of 2014. During cardiovascular assessment one can rely on cooperation of multidisciplinary specialists like: other anesthesiologists, cardiologists and surgeons. For the purpose of precise systematization and decision making the Lee Score or NSQUIP database can be used besides the traditionally used ASA Score...
April 2017: Minerva Anestesiologica
https://www.readbyqxmd.com/read/27885180/-mechano-bioscience-in-heart-disease-and-regenerative-medicine
#16
Shota Kurotsu, Masaki Ieda
During cardiac development and maturation, the heart continuously receives hemodynamic stimuli, referred to mechanical stress. Mechanical stress governs both cardiac development and differentiation, and also plays an important role in the maintenance of cardiac homeostasis. Indeed, cardiac hypertrophic changes emerge as a result of adaptation to mechanical overload. However, it is difficult to measure the mechanical stress precisely. Therefore, the molecular mechanisms of hemodynamics-related diseases are minimally understood...
2016: Clinical Calcium
https://www.readbyqxmd.com/read/27807201/molecular-pathophysiology-of-congenital-long-qt-syndrome
#17
REVIEW
M S Bohnen, G Peng, S H Robey, C Terrenoire, V Iyer, K J Sampson, R S Kass
Ion channels represent the molecular entities that give rise to the cardiac action potential, the fundamental cellular electrical event in the heart. The concerted function of these channels leads to normal cyclical excitation and resultant contraction of cardiac muscle. Research into cardiac ion channel regulation and mutations that underlie disease pathogenesis has greatly enhanced our knowledge of the causes and clinical management of cardiac arrhythmia. Here we review the molecular determinants, pathogenesis, and pharmacology of congenital Long QT Syndrome...
January 2017: Physiological Reviews
https://www.readbyqxmd.com/read/27765793/a-precision-medicine-approach-to-the-rescue-of-function-on-malignant-calmodulinopathic-long-qt-syndrome
#18
Worawan B Limpitikul, Ivy E Dick, David J Tester, Nicole J Boczek, Pattraranee Limphong, Wanjun Yang, Myoung Hyun Choi, Jennifer Babich, Deborah DiSilvestre, Ronald J Kanter, Gordon F Tomaselli, Michael J Ackerman, David T Yue
RATIONALE: Calmodulinopathies comprise a new category of potentially life-threatening genetic arrhythmia syndromes capable of producing severe long-QT syndrome (LQTS) with mutations involving CALM1, CALM2, or CALM3. The underlying basis of this form of LQTS is a disruption of Ca(2+)/calmodulin (CaM)-dependent inactivation of L-type Ca(2+) channels. OBJECTIVE: To gain insight into the mechanistic underpinnings of calmodulinopathies and devise new therapeutic strategies for the treatment of this form of LQTS...
January 6, 2017: Circulation Research
https://www.readbyqxmd.com/read/27726056/biomarkers-to-predict-reverse-remodeling-and-myocardial-recovery-in-heart-failure
#19
Shweta R Motiwala, Hanna K Gaggin
Left ventricular remodeling appears to be a critical link between cardiac injury and the development and progression of heart failure with reduced ejection fraction (HFrEF). Several drug and device therapies that modify and reverse the remodeling process in patients with HFrEF are closely associated with improvement in clinical outcomes. Reverse remodeling, including partial or complete recovery of systolic function and structure, is possible but its determinants are incompletely understood. Methods to predict reverse remodeling in response to therapy are not well defined...
October 2016: Current Heart Failure Reports
https://www.readbyqxmd.com/read/27620367/biomimetic-cardiac-tissue-model-enables-the-adaption-of-human-induced-pluripotent-stem-cell-cardiomyocytes-to-physiological-hemodynamic-loads
#20
Aaron J Rogers, Vladimir G Fast, Palaniappan Sethu
Induced pluripotent stem cell derived cardiomyocytes (iPSC-CMs) provide a human source of cardiomyocytes for use in cardiovascular research and regenerative medicine. However, attempts to use these cells in vivo have resulted in drastic cell death caused by mechanical, metabolic, and/or exogenous factors. To explore this issue, we designed a Biomimetic Cardiac Tissue Model (BCTM) where various parameters associated with heart function including heart rate, peak-systolic pressure, end-diastolic pressure and volume, end-systolic pressure and volume, and ratio of systole to diastole can all be precisely manipulated to apply hemodynamic loading to culture cells...
October 4, 2016: Analytical Chemistry
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