Download or read book Current Challenges in Cardiovascular Molecular Diagnostics written by Matteo Vatta and published by Frontiers Media SA. This book was released on 2017-09-12 with total page 130 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting with cardiac muscle diseases such as cardiomyopathies or primary arrhythmias such as long QT syndrome (LQTS), may harbor at least two deleterious variants in the same gene (compound heterozygous) or in different gene (double heterozygous). Although the clinical presentation in subjects with more than one deleterious variant appears to be more severe and with an earlier disease onset, it somehow changes the viewpoint of clinical molecular geneticists whose aim is to identify all possible genetic contributors to a human condition. In this light, the employment in clinical diagnostics of the NGS technology, allowing the simultaneous interrogation of a DNA target spanning from large panel of genes up to the entire genome, will definitely aid at uncovering all such contributors, which will have to be tested functionally to confirm their role in human cardiac conditions. The uncovering of all clinically relevant deleterious changes associated with a cardiovascular disease would probably increase our understanding of the clinical variability commonly occurring among affected family relatives, and potentially provide with unexpected therapeutic targets for the treatment of symptoms related to the presence of “accessory” deleterious genetic variants other than the key molecular culprit. The objective of this Research Topic is to explore the current challenges presenting to the cardiovascular genetics providers, such as clinical geneticists, genetic counselors, clinical molecular geneticists and molecular pathologists involved in the diagnosis, counseling, testing and interpretation of genetic tests results for the comprehensive management of patients affected by cardiovascular genetic disorders.

Download or read book Current Challenges in Cardiovascular Molecular Diagnostics written by and published by . This book was released on 2017 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting with cardiac muscle diseases such as cardiomyopathies or primary arrhythmias such as long QT syndrome (LQTS), may harbor at least two deleterious variants in the same gene (compound heterozygous) or in different gene (double heterozygous). Although the clinical presentation in subjects with more than one deleterious variant appears to be more severe and with an earlier disease onset, it somehow changes the viewpoint of clinical molecular geneticists whose aim is to identify all possible genetic contributors to a human condition. In this light, the employment in clinical diagnostics of the NGS technology, allowing the simultaneous interrogation of a DNA target spanning from large panel of genes up to the entire genome, will definitely aid at uncovering all such contributors, which will have to be tested functionally to confirm their role in human cardiac conditions. The uncovering of all clinically relevant deleterious changes associated with a cardiovascular disease would probably increase our understanding of the clinical variability commonly occurring among affected family relatives, and potentially provide with unexpected therapeutic targets for the treatment of symptoms related to the presence of "accessory" deleterious genetic variants other than the key molecular culprit. The objective of this Research Topic is to explore the current challenges presenting to the cardiovascular genetics providers, such as clinical geneticists, genetic counselors, clinical molecular geneticists and molecular pathologists involved in the diagnosis, counseling, testing and interpretation of genetic tests results for the comprehensive management of patients affected by cardiovascular genetic disorders.

Download or read book Clinical Molecular Diagnostics written by Shiyang Pan and published by Springer Nature. This book was released on 2021-07-08 with total page 889 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers the discovery of molecular biomarkers, the development of laboratory testing techniques and their clinical applications, focusing on basic research to clinical practice. It introduces new and crucial knowledge and ethics of clinical molecular diagnosis. This book emphasizes the applications of clinical molecular diagnostic test on health management, especially from different diseased organs. It lets readers to understand and realize precision healthcare.

Download or read book Promoting Cardiovascular Health in the Developing World written by Institute of Medicine and published by National Academies Press. This book was released on 2010-06-29 with total page 483 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cardiovascular disease (CVD), once thought to be confined primarily to industrialized nations, has emerged as a major health threat in developing countries. Cardiovascular disease now accounts for nearly 30 percent of deaths in low and middle income countries each year, and is accompanied by significant economic repercussions. Yet most governments, global health institutions, and development agencies have largely overlooked CVD as they have invested in health in developing countries. Recognizing the gap between the compelling evidence of the global CVD burden and the investment needed to prevent and control CVD, the National Heart, Lung, and Blood Institute (NHLBI) turned to the IOM for advice on how to catalyze change. In this report, the IOM recommends that the NHLBI, development agencies, nongovernmental organizations, and governments work toward two essential goals: creating environments that promote heart healthy lifestyle choices and help reduce the risk of chronic diseases, and building public health infrastructure and health systems with the capacity to implement programs that will effectively detect and reduce risk and manage CVD. To meet these goals, the IOM recommends several steps, including improving cooperation and collaboration; implementing effective and feasible strategies; and informing efforts through research and health surveillance. Without better efforts to promote cardiovascular health, global health as a whole will be undermined.

Download or read book Pathophysiology of Cardiovascular Disease written by Naranjan S. Dhalla and published by Springer. This book was released on 2012-10-31 with total page 648 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pathophysiology of Cardiovascular Disease has been divided into four sections that focus on heart dysfunction and its associated characteristics (hypertrophy, cardiomyopathy and failure); vascular dysfunction and disease; ischemic heart disease; and novel therapeutic interventions. This volume is a compendium of different approaches to understanding cardiovascular disease and identifying the proteins, pathways and processes that impact it.

Download or read book Congenital Heart Disease written by Mary Kearns-Jonker and published by Springer Science & Business Media. This book was released on 2008-02-02 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: Prominent researchers and clinicians describe in detail all the latest laboratory techniques currently used to define the molecular genetic basis for congenital malformations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in human patients. In particular, the methods can be used to identify in clinical samples those genetic mutations responsible for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors also discuss the limitations of identifying patients with congenital heart disease using these techniques during both pre- and postnatal periods.

Download or read book Molecular Diagnostics Promises and Possibilities written by Mousumi Debnath and published by Springer Science & Business Media. This book was released on 2010-01-29 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: A rapid development in diverse areas of molecular biology and genetic engineering resulted in emergence of variety of tools. These tools are not only applicable to basic researches being carried out world over, but also exploited for precise detection of abnormal conditions in plants, animals and human body. Although a basic researcher is well versed with few techniques used by him/her in the laboratory, they may not be well acquainted with methodologies, which can be used to work out some of their own research problems. The picture is more blurred when the molecular diagnostic tools are to be used by physicians, scientists and technicians working in diagnostic laboratories in hospitals, industry and academic institutions. Since many of them are not trained in basics of these methods, they come across several gray areas in understanding of these tools. The accurate application of molecular diagnostic tools demands in depth understanding of the methodology for precise detection of the abnormal condition of living body. To meet the requirements of a good book on molecular diagnostics of students, physicians, scientists working in agricultural, veterinary, medical and pharmaceutical sciences, it needs to expose the reader lucidly to: Give basic science behind commonly used tools in diagnostics Expose the readers to detailed applications of these tools and Make them aware the availability of such diagnostic tools The book will attract additional audience of pathologists, medical microbiologists, pharmaceutical sciences, agricultural scientists and veterinary doctors if the following topics are incorporated at appropriate places in Unit II or separately as a part of Unit-III in the book. Molecular diagnosis of diseases in agricultural crops Molecular diagnosis of veterinary diseases. Molecular epidemiology, which helps to differentiate various epidemic strains and sources of disease outbreaks. Even in different units of the same hospital, the infections could be by different strains of the same species and the information becomes valuable for infection control strategies. Drug resistance is a growing problem for bacterial, fungal and parasitic microbes and the molecular biology tools can help to detect the drug resistance genes without the cultivation and in vitro sensitivity testing. Molecular diagnostics offers faster help in the selection of the proper antibiotic for the treatment of tuberculosis, which is a major problem of the in the developing world. The conventional culture and drug sensitivity testing of tuberculosis bacilli is laborious and time consuming, whereas molecular diagnosis offers rapid drug resistant gene detection even from direct clinical samples. The same approach for HIV, malaria and many more diseases needs to be considered. Molecular diagnostics in the detection of diseases during foetal life is an upcoming area in the foetal medicine in case of genetic abnormalities and infectious like TORCH complex etc. The book will be equally useful to students, scientists and professionals working in the field of molecular diagnostics.

Download or read book Molecular Allergy Diagnostics written by Jörg Kleine-Tebbe and published by Springer. This book was released on 2017-05-08 with total page 531 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, based on a recent German publication, offers an overview of basic data and recent developments in the groundbreaking field of molecular allergology. It comprehensively explores the origin and structure of single allergen molecules ("components") and their utility in improving the management of type I, IgE-mediated allergic reactions and disorders like allergic respiratory diseases, food allergies, and anaphylaxis. Highly specific testing, called component-resolved diagnostics, aims to identify and utilize single molecules. Over 200 single allergens from plant or animal sources have been applied to single or multiplex laboratory testing for the presence of allergen-specific IgE. This leap in assay sensitivity and specificity has led to three major advances in patient management: discrimination between primary allergic sensitization and complex cross-reactivity, recognition of IgE profiles for certain allergens and identification of patients most likely to benefit from allergen-specific immunotherapy. The book discusses in detail the benefits and limitations of this 21st century technology, and offers suggestions for the use of molecular allergology in routine clinical practice. It is a “must read” for physicians treating allergic patients as well as scientists interested in natural allergic molecules and their interactions with the human immune system.

Download or read book Molecular diagnostics for infectious diseases Novel approaches clinical applications and future challenges written by Xiaogang Xu and published by Frontiers Media SA. This book was released on 2023-03-31 with total page 193 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Improving Diagnosis in Health Care written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2015-12-29 with total page 473 pages. Available in PDF, EPUB and Kindle. Book excerpt: Getting the right diagnosis is a key aspect of health care - it provides an explanation of a patient's health problem and informs subsequent health care decisions. The diagnostic process is a complex, collaborative activity that involves clinical reasoning and information gathering to determine a patient's health problem. According to Improving Diagnosis in Health Care, diagnostic errors-inaccurate or delayed diagnoses-persist throughout all settings of care and continue to harm an unacceptable number of patients. It is likely that most people will experience at least one diagnostic error in their lifetime, sometimes with devastating consequences. Diagnostic errors may cause harm to patients by preventing or delaying appropriate treatment, providing unnecessary or harmful treatment, or resulting in psychological or financial repercussions. The committee concluded that improving the diagnostic process is not only possible, but also represents a moral, professional, and public health imperative. Improving Diagnosis in Health Care, a continuation of the landmark Institute of Medicine reports To Err Is Human (2000) and Crossing the Quality Chasm (2001), finds that diagnosis-and, in particular, the occurrence of diagnostic errorsâ€"has been largely unappreciated in efforts to improve the quality and safety of health care. Without a dedicated focus on improving diagnosis, diagnostic errors will likely worsen as the delivery of health care and the diagnostic process continue to increase in complexity. Just as the diagnostic process is a collaborative activity, improving diagnosis will require collaboration and a widespread commitment to change among health care professionals, health care organizations, patients and their families, researchers, and policy makers. The recommendations of Improving Diagnosis in Health Care contribute to the growing momentum for change in this crucial area of health care quality and safety.

Download or read book How Tobacco Smoke Causes Disease written by and published by . This book was released on 2010 with total page 728 pages. Available in PDF, EPUB and Kindle. Book excerpt: This report considers the biological and behavioral mechanisms that may underlie the pathogenicity of tobacco smoke. Many Surgeon General's reports have considered research findings on mechanisms in assessing the biological plausibility of associations observed in epidemiologic studies. Mechanisms of disease are important because they may provide plausibility, which is one of the guideline criteria for assessing evidence on causation. This report specifically reviews the evidence on the potential mechanisms by which smoking causes diseases and considers whether a mechanism is likely to be operative in the production of human disease by tobacco smoke. This evidence is relevant to understanding how smoking causes disease, to identifying those who may be particularly susceptible, and to assessing the potential risks of tobacco products.

Download or read book Adult Congenital Heart Disease written by Sara Thorne and published by Oxford University Press. This book was released on 2017 with total page 277 pages. Available in PDF, EPUB and Kindle. Book excerpt: A practical approach to the investigation and treatment of adult congenital heart disease (ACHD), this fully updated Oxford Specialist Handbook is a concise and accessible overview of a complex condition. Packed with straightforward advice, management strategies and key clinical points, it equips clinicians with a sound understanding of the principles and physiology of ACHD. An ideal reference tool for cardiology trainees, general cardiologists and acute medicine physicians, this second edition of Adult Congenital Heart Disease has been fully reviewed to include new guidelines and increased illustations to aid understanding. Brand new chapters on epidemiology, heart failure, device therapy and transition and transfer of care ensure that Adult Congenital Heart Disease remains the definitive guide to supporting clinicians throughout all aspects of the patient's care.

Download or read book Cardiovascular Diseases written by Nikolaos Papageorgiou and published by Academic Press. This book was released on 2016-08-05 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cardiovascular Diseases: Genetic Susceptibility, Environmental Factors and Their Interaction covers the special heritability characteristics and identifying genetic and environmental contributions to cardiovascular health. This important reference provides an overview of the genetic basis of cardiovascular disease and its risk factors. Included are important topics, ranging from lifestyle choices, risk factors, and exposure, to pollutants and chemicals. Also covered are the influences of Mendelian traits and familial aggregation and the interactions and interrelationships between genetics and environmental factors which, when compared, provide a sound understanding of the interplay between inherited and acquired risk factors. The book provides a much needed reference for this rapidly growing field of study. By combining the latest research within the structured chapters of this reference, a better understanding of genetic and environmental contribution to cardiovascular disease is found, helping to substantiate further investigations in the field and design prevention and treatment strategies. Provides an overview of the genetic basis of cardiovascular disease and its risk factors Reviews several large population-based studies which indicate that exposure to several environmental factors may increase CVD morbidity and mortality, exploring the plausibility of this association by data from animal studies Reflects on future studies to help understanding the role of genes and environmental factors in the development and progression of cardiovascular disease

Download or read book Nucleic Acids as Molecular Diagnostics written by Andreas Keller and published by John Wiley & Sons. This book was released on 2015-01-12 with total page 390 pages. Available in PDF, EPUB and Kindle. Book excerpt: By integrating technology, supporting infrastructure and efficient application, the all-in-one guide presents molecular diagnostics as an essential component of modern, personalized clinical practice. It considers all important aspects, from the hardware and software needed, to recent improvements in blood- and non-blood-based biomarker tests. Chapters on ethical challenges and a look at current trends and the latest innovations are also included. Bridging the gap between industry and academia, this is a highly useful resource for practitioners as well as for developers of modern, DNA- and RNA-based molecular diagnostics.

Download or read book Contemporary Challenges in Sudden Cardiac Death An Issue of Cardiac Electrophysiology Clinics E Book written by Mohammad Shenasa and published by Elsevier Health Sciences. This book was released on 2017-11-30 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This issue of Cardiac Electrophysiology Clinics, edited by Drs. Mohammad Shenasa, N. A. Mark Estes III, and Gordon F. Tomaselli, will cover Contemporary Challenges in Sudden Cardiac Death. Topics covered in this issue include Pathophysiology; Basic electrophysiological mechanism; Channelopathy and Myopathy as causes of sudden cardiac death; Public access to defibrillation; Sudden cardiac death in children adolescence; Sudden cardiac death in specific cardiomyopathies; Ventricular arrhythmias and sudden cardiac death; lessons learned from cardiac implantable rhythm devices; future directions, and more.

Download or read book Forensic Science written by Douglas H. Ubelaker and published by John Wiley & Sons. This book was released on 2012-11-28 with total page 429 pages. Available in PDF, EPUB and Kindle. Book excerpt: Co-published with the American Academy of Forensic Sciences, Forensic Science presents comprehensive international discussion of key issues and future directions within the forensic sciences. Written by accomplished and respected specialists in approximately eleven distinct areas of the forensic sciences, the volume will examine central issues within each discipline, provide perspective on current debate and explore current and proposed research initiatives. It will also provide the forensically involved international community with current in-depth perspective on the key issues in the contemporary practice of the forensic sciences.

Download or read book Braunwald s Heart Disease E Book written by Douglas L. Mann and published by Elsevier Health Sciences. This book was released on 2014-07-30 with total page 2376 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ideal for cardiologists who need to keep abreast of rapidly changing scientific foundations, clinical research results, and evidence-based medicine, Braunwald’s Heart Disease is your indispensable source for definitive, state-of-the-art answers on every aspect of contemporary cardiology, helping you apply the most recent knowledge in personalized medicine, imaging techniques, pharmacology, interventional cardiology, electrophysiology, and much more! Practice with confidence and overcome your toughest challenges with advice from the top minds in cardiology today, who synthesize the entire state of current knowledge and summarize all of the most recent ACC/AHA practice guidelines. Locate the answers you need fast thanks to a user-friendly, full-color design with more than 1,200 color illustrations. Learn from leading international experts, including 53 new authors. Explore brand-new chapters, such as Principles of Cardiovascular Genetics and Biomarkers, Proteomics, Metabolomics, and Personalized Medicine. Access new and updated guidelines covering Diseases of the Aorta, Peripheral Artery Diseases, Diabetes and the Cardiovascular System, Heart Failure, and Valvular Heart Disease. Stay abreast of the latest diagnostic and imaging techniques and modalities, such as three-dimensional echocardiography, speckle tracking, tissue Doppler, computed tomography, and cardiac magnetic resonance imaging. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability.