[PDF] Current Challenges In Cardiovascular Molecular Diagnostics eBook

Author : Matteo Vatta
Publisher : Frontiers Media SA
Page : 130 pages
File Size : 33,59 MB
Release : 2017-09-12
Category :
ISBN : 2889452816

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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.

Author :
Publisher :
Page : 0 pages
File Size : 31,82 MB
Release : 2017
Category :
ISBN :

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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.

Author : Jim F. Huggett
Publisher : Caister Academic Press Limited
Page : 0 pages
File Size : 30,13 MB
Release : 2014
Category : Medical
ISBN : 9781908230416

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The application of molecular technology in clinical diagnosis is a rapidly developing area and is predicted to greatly improve the speed, efficiency, and accuracy of diagnostic medicine. The editors of this book have commissioned an excellent series of chapters representing two key molecular diagnostic areas: cancer and infectious diseases. The cancer section deals with the challenges in identifying genetic, epigenetic, and transcriptomic biomarkers. The infectious disease section describes the current clinical applications of molecular diagnostics for the detection of viral, bacterial, and fungal pathogens, as well as an example of the use of molecular diagnostics outside the clinic environment. A cautionary tale describing what can go wrong when molecular methods are applied incorrectly is also provided and makes fascinating reading. A substantial component of the book is dedicated to the process of translating a preclinical test to the bedside and describes the progress in the near patient point-of-care molecular diagnostics market. This is a fundamental consideration for successful translation of diagnostics tests from bench to bedside and is crucial for molecular diagnostics to have an impact on patient care. The final chapter offers a prediction of future trends in the molecular diagnostics of infectious diseases. This volume is essential reading for anyone involved in the development or application of molecular diagnostics and is recommended for all clinical diagnostics laboratories. [Subject: Medicine, Molecular Biology, Epidemiology, Life Science, Oncology]

Author : Institute of Medicine
Publisher : National Academies Press
Page : 284 pages
File Size : 12,35 MB
Release : 2007-11-11
Category : Medical
ISBN : 0309111145

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Early detection is essential to the control of emerging, reemerging, and novel infectious diseases, whether naturally occurring or intentionally introduced. Containing the spread of such diseases in a profoundly interconnected world requires active vigilance for signs of an outbreak, rapid recognition of its presence, and diagnosis of its microbial cause, in addition to strategies and resources for an appropriate and efficient response. Although these actions are often viewed in terms of human public health, they also challenge the plant and animal health communities. Surveillance, defined as "the continual scrutiny of all aspects of occurrence and spread of a disease that are pertinent to effective control", involves the "systematic collection, analysis, interpretation, and dissemination of health data." Disease detection and diagnosis is the act of discovering a novel, emerging, or reemerging disease or disease event and identifying its cause. Diagnosis is "the cornerstone of effective disease control and prevention efforts, including surveillance." Disease surveillance and detection relies heavily on the astute individual: the clinician, veterinarian, plant pathologist, farmer, livestock manager, or agricultural extension agent who notices something unusual, atypical, or suspicious and brings this discovery in a timely way to the attention of an appropriate representative of human public health, veterinary medicine, or agriculture. Most developed countries have the ability to detect and diagnose human, animal, and plant diseases. Global Infectious Disease Surveillance and Detection: Assessing the Challenges-Finding Solutions, Workshop Summary is part of a 10 book series and summarizes the recommendations and presentations of the workshop.

Author : United States. Public Health Service. Office of the Surgeon General
Publisher :
Page : 728 pages
File Size : 16,41 MB
Release : 2010
Category : Government publications
ISBN :

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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.

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
Page : 473 pages
File Size : 31,16 MB
Release : 2015-12-29
Category : Medical
ISBN : 0309377722

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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.

Author : Vijay Nambi
Publisher : Elsevier Health Sciences
Page : 400 pages
File Size : 37,82 MB
Release : 2018-11-27
Category : Medical
ISBN : 0323548369

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Get a quick, expert overview of the ways in which biomarkers can be used to assess and guide the management of cardiovascular disease in the clinical setting. This concise, clinically-focused resource by Dr. Vijay Nambi consolidates today’s available information on this rapidly changing topic into one convenient resource, making it an ideal, easy-to-digest reference for cardiology practitioners, fellows, and residents. Covers lab standards and statistical interpretation of biomarkers with a clinical focus. Discusses relevant conditions such as hypertension and diabetes as key markers of injury and prognosis. Includes current information on biomarkers to assess and guide the management of heart failure, acute coronary syndrome, chest pain, shortness of breath, and more. Concludes the book with a timely chapter on how biomarkers may guide cardiologists in the future.

Author : Jörg Kleine-Tebbe
Publisher : Springer
Page : 537 pages
File Size : 40,54 MB
Release : 2017-05-08
Category : Medical
ISBN : 3319424998

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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.

Author : Hugh S. Markus
Publisher : Oxford Medical Publications
Page : 362 pages
File Size : 39,30 MB
Release : 2003
Category : Medical
ISBN : 0198515863

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Stroke is a major cause of death and the major cause of adult neurological disability in most of the world. Despite its importance on a population basis, research into the genetics of stroke has lagged behind that of many other disorders. However, the situation is now changing. Anincreasing number of single gene disorders causing stroke are being described, and there is growing evidence that polygenic factors are important in the risk of apparently "sporadic" stroke.Stroke Genetics provides an up-to-date review of the area, suitable for clinicians treating stroke patients, and both clinical and non-clinical researchers in the field of cerebrovascular disease. The full range of monogenic stroke disorders causing cerebrovascular disease, including ischaemicstroke, intracerebral haemorrhage, aneurysms and arteriovenous malformations, are covered. For each, clinical features, diagnosis, and genetics are described. Increasing evidence suggest that genetic factors are also important for the much more common multifactorial stroke; this evidence isreviewed along with the results of genetic studies in this area. Optimal and novel strategies for investigating multifactorial stroke, including the use of intermediate phenotypes such as intima-media thickness and MRI detected small vessel disease are reviewed. The book concludes by describing apractical approach to investigating patients with stroke for underlying genetic disorders. Also included is a list of useful websites.