Current Challenges In Cardiovascular Molecular Diagnostics

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Current Challenges In Cardiovascular Molecular Diagnostics

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Author : Matteo Vatta
language : en
Publisher: Frontiers Media SA
Release Date : 2017-09-12

Current Challenges In Cardiovascular Molecular Diagnostics written by Matteo Vatta and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-09-12 with categories.

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.

Issues In Pathology Diagnostics And Disease 2011 Edition

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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2012-01-09

Issues In Pathology Diagnostics And Disease 2011 Edition written by and has been published by ScholarlyEditions this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-01-09 with Medical categories.

Issues in Pathology, Diagnostics, and Disease: 2011 Edition is a ScholarlyEditions™ eBook that delivers timely, authoritative, and comprehensive information about Pathology, Diagnostics, and Disease. The editors have built Issues in Pathology, Diagnostics, and Disease: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Pathology, Diagnostics, and Disease in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Issues in Pathology, Diagnostics, and Disease: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

List Of Journals Indexed In Index Medicus

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Author : National Library of Medicine (U.S.)
language : en
Publisher:
Release Date : 1994

List Of Journals Indexed In Index Medicus written by National Library of Medicine (U.S.) and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994 with Index medicus categories.

Issues for 1977-1979 include also Special List journals being indexed in cooperation with other institutions. Citations from these journals appear in other MEDLARS bibliographies and in MEDLING, but not in Index medicus.

Metabolic Phenotyping In Personalized And Public Healthcare

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Author : Jeremy Nicholson
language : en
Publisher: Academic Press
Release Date : 2016-02-11

Metabolic Phenotyping In Personalized And Public Healthcare written by Jeremy Nicholson and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-02-11 with Science categories.

Metabolic Phenotyping in Personalized and Public Healthcare provides information on the widespread recognition that a personalized or stratified approach to patient treatment may offer a more efficient and effective healthcare solution than phenotype-led approaches.In order to achieve that objective, a deep personal description is required at the level of the genome, proteome, metabolome, or preferably a combination of these aided by technology. This book, edited and written by the outstanding luminaries of this evolving field, evaluates metabolic profiling and its uses across personalized and population healthcare, while also covering the advent of new technology fields, such as surgical metabonomics. In addition, the text presents specific examples of where this technology has been used clinically and with efficacy, pointing towards a framework and protocol for usage as it hits the clinical mainstream. - Translates the conjunction of new surgical tools for intraoperative, real-time, metabolite evaluation and direct analysis of biofluid samples into novel options for augmented clinical decision-making - Discusses longitudinal sampling from individual patients for stratified medicine - Covers high resolution analytical spectroscopy and sophisticated computational modelling for prediction of adverse reactions in critical care scenarios, prognostic evaluation of cancer from biofluidism, and prognostic prediction of metabolism or response of patients to pharmaceutical interventions - Encapsulates recent technology options for broader population profiling considerations, in particular, the metabolome-wide association studies (MWAS) that aid the translational researcher in identifying metabolic patterns associated with disease - Foreword written by Professor Dame Sally Davies who is the Chief Medical Officer for England

In Vitro Diagnostic Industry In China

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Author : Haibo Song
language : en
Publisher: Springer Nature
Release Date : 2021-07-28

In Vitro Diagnostic Industry In China written by Haibo Song and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-07-28 with Medical categories.

This book systematically describes the achievements and current situation of in vitro diagnostic (IVD) industry in China. It consists of eight parts, including the overview on the IVD industry in China in 2019, hot technologies and products of IVD industry, academic, technological and product development in the field of IVD, such as biochemical diagnosis, immune-diagnosis, molecular diagnosis, blood and body fluid diagnosis, microbial detection, point-of-care testing, laboratory assembly line, etc. This book is compiled by an editorial committee composed of well-known entrepreneurs, experts and professors in IVD industry in China. It is a reference book for practitioners of IVD industry, medical laboratory and medical staffs all over the world.

The Pathology Of Cardiac Transplantation

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Author : Ornella Leone
language : en
Publisher: Springer
Release Date : 2017-01-20

The Pathology Of Cardiac Transplantation written by Ornella Leone and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-01-20 with Medical categories.

This is the first book to focus entirely on the role of pathology in cardiac transplantation, linked to the clinical perspective through clinical–pathological correlation, multidisciplinary team working, and collaborative research. It provides a scientific framework with up-to-date pathological protocols and classification schemes and guides the reader through the chronological phases of the transplant process in a step-by-step approach. Topics include end-stage heart failure with pathologies encountered in the native heart, current issues surrounding donor selection, the multiple faces of rejection pathology correlated with clinical management and immunology, other post-transplant complications, details of pediatric and combined heart/other organ transplantation, and a useful practical appendix. Many high-quality images and illustrative cases are presented, along with learning points and ample references. Transplantation medicine today is continuously changing as collaborative research into novel diagnostic techniques and immunosuppressive therapies translates into improved recipient management and survival. This book is aimed at practicing transplant pathologists and specialist trainees. It will also appeal to general pathologists and to physicians and surgeons involved in cardiac transplantation who need to understand the role of pathology in the clinical management of transplant recipients.

Tietz Textbook Of Clinical Chemistry And Molecular Diagnostics E Book

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Author : Nader Rifai
language : en
Publisher: Elsevier Health Sciences
Release Date : 2017-01-16

Tietz Textbook Of Clinical Chemistry And Molecular Diagnostics E Book written by Nader Rifai and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-01-16 with Medical categories.

The Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 6th Edition provides the most current and authoritative guidance on selecting, performing, and evaluating the results of new and established laboratory tests. This classic clinical chemistry reference offers encyclopedic coverage detailing everything you need to know, including: analytical criteria for the medical usefulness of laboratory tests, variables that affect tests and results, laboratory medicine, applications of statistical methods, and most importantly clinical utility and interpretation of laboratory tests. It is THE definitive reference in clinical chemistry and molecular diagnostics, now fully searchable and with quarterly content updates, podcasts, clinical cases, animations, and extended content online through Expert Consult. - Analytical criteria focus on the medical usefulness of laboratory procedures. - Reference ranges show new approaches for establishing these ranges — and provide the latest information on this topic. - Lab management and costs gives students and chemists the practical information they need to assess costs, allowing them to do their job more efficiently and effectively. - Statistical methods coverage provides you with information critical to the practice of clinical chemistry. - Internationally recognized chapter authors are considered among the best in their field. - Two-color design highlights important features, illustrations, and content to help you find information easier and faster. - NEW! Internationally recognized chapter authors are considered among the best in their field. - NEW! Expert Consult features fully searchable text, quarterly content updates, clinical case studies, animations, podcasts, atlases, biochemical calculations, multiple-choice questions, links to Medline, an image collection, and audio interviews. You will now enjoy an online version making utility of this book even greater. - UPDATED! Expanded Molecular Diagnostics section with 12 chapters that focus on emerging issues and techniques in the rapidly evolving and important field of molecular diagnostics and genetics ensures this text is on the cutting edge and of the most value. - NEW! Comprehensive list of Reference Intervals for children and adults with graphic displays developed using contemporary instrumentation. - NEW! Standard and international units of measure make this text appropriate for any user — anywhere in the world. - NEW! 22 new chapters that focus on applications of mass spectrometry, hematology, transfusion medicine, microbiology, biobanking, biomarker utility in the pharmaceutical industry and more! - NEW! Expert senior editors, Nader Rifai, Carl Wittwer and Rita Horvath, bring fresh perspectives and help ensure the most current information is presented. - UPDATED! Thoroughly revised and peer-reviewed chapters provide you with the most current information possible.

Principles And Practice Of Clinical Cardiovascular Genetics

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Author : Dhavendra Kumar
language : en
Publisher:
Release Date : 2010

Principles And Practice Of Clinical Cardiovascular Genetics written by Dhavendra Kumar and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010 with Language Arts & Disciplines categories.

Consisting of contributions from experts in all specialties of cardiovascular genetics and applied clinical cardiology, Principles and Practice of Clinical Cardiovascular Genetics serves as the comprehensive volume for any clinician or resident in cardiology and genetics. Each chapter provides a detailed and comprehensive account on the molecular genetics and clinical practice related to specific disorders or groups of disorders, including Marfan syndrome, thoracic and abdominal aortic aneurysms, hypertrophic, dilated and restrictive cardiomyopathies and Arrhythmogenic right ventricular cardiomyopathy, as well as many others. All sections comprehensively address cardiovasuclar genetic disorders, beginning with an introduction and including separate sections on the disease's basic biological aspects, specific genetic mechanisms or issues, clinical aspects, genetic management (e.g., genetic diagnosis, risk assessment, genetic counseling, genetic testing), and clinical management issues. The final section exclusively addresses the management of cardiovascular genetic disorders, specifically considering stem cell therapy, genetic counseling, pharmacogenomics and the social and ethical issues surrounding disease treatment.

National Library Of Medicine Current Catalog

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Author : National Library of Medicine (U.S.)
language : en
Publisher:
Release Date : 1990

National Library Of Medicine Current Catalog written by National Library of Medicine (U.S.) and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1990 with Medicine categories.

Forensic Science

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Author : Douglas H. Ubelaker
language : en
Publisher: John Wiley & Sons
Release Date : 2012-11-28

Forensic Science written by Douglas H. Ubelaker and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-11-28 with Science categories.

FORENSIC SCIENCE Forensic Science: Current Issues, Future Directions presents a comprehensive, international discussion of key issues within the forensic sciences. Written by accomplished and respected specialists in distinct areas of the forensic sciences, this volume examines central issues within each discipline, provides perspective on current debate and explores current and proposed research initiatives. The forensic sciences represent dynamic and evolving fields, presenting new challenges to a rapidly expanding cohort of international practitioners. This book acquaints readers with the complex issues involved and how they are being addressed. The academic treatment by experts in the fields ensures comprehensive and thorough understanding of these issues and paves the way for future research and progress. Draws on the knowledge and expertise of the prestigious American Academy of Forensic Sciences Written by key experts in the diverse disciplines of forensic science An international approach Each chapter carefully integrated throughout with key themes and issues covered in detail Includes discussion of future directions of forensic science as a discipline