Estimating Screening Results Following The Introduction Of Next Generation Sequencing Into Newborn Screening

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Estimating Screening Results Following the Introduction of Next-generation Sequencing Into Newborn Screening

Author : Alvi Rahman
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (11 download)

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Book Synopsis Estimating Screening Results Following the Introduction of Next-generation Sequencing Into Newborn Screening by : Alvi Rahman

Download or read book Estimating Screening Results Following the Introduction of Next-generation Sequencing Into Newborn Screening written by Alvi Rahman and published by . This book was released on 2017 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Objective: The objective of this thesis was to estimate the impact on newborn screening (NBS) results of changing screening technology from tandem mass spectrometry (MS/MS) to an approach using targeted next-generation sequencing (T-NGS) and MS/MS in parallel. Methods: We integrated results of an analysis of MS/MS screening data for phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency; and a query of genetic compendia for variants of genes associated with the two disorders. Results: The introduction of T-NGS into NBS may reduce nearly 80% of false positives that are generated using the current screening approach. Based on estimated NBS results, T-NGS may be applied using a second-tier approach, which may improve specificity while maintaining sensitivity at its current level. Discussion: T-NGS may enhance the performance of NBS for PKU by improving specificity when used as a second tier test, but may be limited by feasibility and cost under current circumstances. Future studies should consider the cost-effectiveness of T-NGS for all infants undergoing NBS.

Newborn Screening for Pompe Disease

Author : Wuh-Liang Hwu
Publisher : MDPI
ISBN 13 : 3036505806
Total Pages : 146 pages
Book Rating : 4.0/5 (365 download)

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Book Synopsis Newborn Screening for Pompe Disease by : Wuh-Liang Hwu

Download or read book Newborn Screening for Pompe Disease written by Wuh-Liang Hwu and published by MDPI. This book was released on 2021-09-02 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.

An Evidence Framework for Genetic Testing

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309453291
Total Pages : 149 pages
Book Rating : 4.3/5 (94 download)

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Book Synopsis An Evidence Framework for Genetic Testing by : National Academies of Sciences, Engineering, and Medicine

Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Clinical Applications of Mass Spectrometry

Author : Uttam Garg
Publisher : Humana Press
ISBN 13 : 9781607614586
Total Pages : 0 pages
Book Rating : 4.6/5 (145 download)

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Book Synopsis Clinical Applications of Mass Spectrometry by : Uttam Garg

Download or read book Clinical Applications of Mass Spectrometry written by Uttam Garg and published by Humana Press. This book was released on 2009-12-14 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: As mass spectrometric methods now offer a level of specificity and sensitivity unrealized by spectrophotometric- and immunoassay-based methods, mass spectrometry has entered the clinical laboratory where it is being used for a wide range of applications. In Clinical Applications of Mass Spectrometry: Methods and Protocols, expert researchers provide detailed step-by-step procedures for the analysis of number of analytes of clinical importance. This versatile and expansive volume covers mass spectrometry methods for analytes including a variety of drugs, hormones, and metabolic compounds spanning the disciplines of toxicology, therapeutic drug monitoring, endocrinology, and pediatric metabolism. Written in the highly successful Methods in Molecular BiologyTM series format, chapters include brief introductions to the analytes, lists of the necessary materials and reagents, readily reproducible analytical protocols, and detailed notes on troubleshooting and avoiding known pitfalls. Comprehensive and dependable, Clinical Applications of Mass Spectrometry: Methods and Protocols offers its readers a wide array of valuable methods for experienced mass spectrometric labs that are looking to introduce new analyses as well as for those laboratories currently considering the addition of this resourceful and vital technology.

Assessing Genetic Risks

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Assessing Genetic Risks by : Institute of Medicine

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Phenylketonuria Detection in the Newborn Infant as a Routine Hospital Procedure

Author : Robert Guthrie
Publisher :
ISBN 13 :
Total Pages : 82 pages
Book Rating : 4.:/5 (31 download)

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Book Synopsis Phenylketonuria Detection in the Newborn Infant as a Routine Hospital Procedure by : Robert Guthrie

Download or read book Phenylketonuria Detection in the Newborn Infant as a Routine Hospital Procedure written by Robert Guthrie and published by . This book was released on 1965 with total page 82 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Genomic Disorders

Author : James R. Lupski
Publisher : Springer Science & Business Media
ISBN 13 : 1597450391
Total Pages : 419 pages
Book Rating : 4.5/5 (974 download)

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Book Synopsis Genomic Disorders by : James R. Lupski

Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Principles and Practice of Screening for Disease

Author : J. M. G. Wilson
Publisher :
ISBN 13 : 9789241300346
Total Pages : 163 pages
Book Rating : 4.3/5 (3 download)

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Book Synopsis Principles and Practice of Screening for Disease by : J. M. G. Wilson

Download or read book Principles and Practice of Screening for Disease written by J. M. G. Wilson and published by . This book was released on 1968 with total page 163 pages. Available in PDF, EPUB and Kindle. Book excerpt: The basic principles of early disease detection, practical considerations, including the application of screening procedures in a number of different disease conditions, and, finally, present techniques and possible developments in methodology. Screening for the chronic non-communicable diseases prevalent in the more advanced countries froms the main subject of the report, but the problems facing countries at other stages of development and with different standards and types of medical care are also discussed, and because of this communicable disease detection is also dealth with to some extent.

Clinical Applications for Next-Generation Sequencing

Author : Urszula Demkow
Publisher : Academic Press
ISBN 13 : 0128018410
Total Pages : 336 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Clinical Applications for Next-Generation Sequencing by : Urszula Demkow

Download or read book Clinical Applications for Next-Generation Sequencing written by Urszula Demkow and published by Academic Press. This book was released on 2015-09-10 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. Fills the gap between state-of-the-art technology and evidence-based practice Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment Promotes a practical tool that clinicians can apply directly to patient care Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents evidence regarding the important role of NGS in current diagnostic strategies

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Author : Nenad Blau
Publisher : Springer
ISBN 13 : 3642403379
Total Pages : 880 pages
Book Rating : 4.6/5 (424 download)

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Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau

Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

Newborn Screening for Inborn Errors of Metabolism

Author : Mohamed A. Elmonem
Publisher : Frontiers Media SA
ISBN 13 : 2889715671
Total Pages : 131 pages
Book Rating : 4.8/5 (897 download)

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Book Synopsis Newborn Screening for Inborn Errors of Metabolism by : Mohamed A. Elmonem

Download or read book Newborn Screening for Inborn Errors of Metabolism written by Mohamed A. Elmonem and published by Frontiers Media SA. This book was released on 2021-10-29 with total page 131 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Hereditary Hearing Loss and Its Syndromes

Author : Helga V. Toriello
Publisher : Oxford University Press
ISBN 13 : 0199313881
Total Pages : 749 pages
Book Rating : 4.1/5 (993 download)

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Book Synopsis Hereditary Hearing Loss and Its Syndromes by : Helga V. Toriello

Download or read book Hereditary Hearing Loss and Its Syndromes written by Helga V. Toriello and published by Oxford University Press. This book was released on 2013-06-20 with total page 749 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.

Avery's Diseases of the Newborn E-Book

Author : Christine A. Gleason
Publisher : Elsevier Health Sciences
ISBN 13 : 0323401724
Total Pages : 2021 pages
Book Rating : 4.3/5 (234 download)

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Book Synopsis Avery's Diseases of the Newborn E-Book by : Christine A. Gleason

Download or read book Avery's Diseases of the Newborn E-Book written by Christine A. Gleason and published by Elsevier Health Sciences. This book was released on 2017-11-21 with total page 2021 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covering the evaluation and management of every key disease and condition affecting newborns, Avery’s Diseases of the Newborn, by Drs. Christine A. Gleason and Sandra E. Juul, remains your #1 source for practical, clinically relevant information in this fast-changing field. You’ll find the specific strategies you need to confidently diagnose and treat this unique patient population, in a full-color, easy-to-use single volume that focuses on key areas of practice. Now in a thoroughly revised 10th Edition, this highly respected reference is an authoritative clinical resource for neonatal practitioners. Provides up-to-date information on every aspect of newborn evaluation and management in a new, visually improved format featuring more than 500 all-new, full-color illustrations integrated within each chapter Includes greatly expanded Neurology and Hematology sections that highlight the knowledge and expertise of new co-editor, Dr. Sandra E. Juul Features all-new chapters on Palliative Care, Gastroesophageal Reflux, Platelet Disorders, Transfusion Therapy, Hypertension, , and The Ear and Hearing Disorders, as well as expanded coverage of brain injury and neuroprotective strategies in the preterm and term infant Contains new Key Points boxes at the beginning of every chapter Brings you up to date on current topics such as the evolving epidemic of neonatal abstinence syndrome and the new clinical uses of ultrasound (including ultrasound videos online) Expert ConsultTM eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, and references from the book on a variety of devices Provides up-to-date information on every aspect of newborn evaluation and management in a new, visually improved format featuring more than 500 all-new, full-color illustrations integrated within each chapter. Includes greatly expanded Neurology and Hematology sections that highlight the knowledge and expertise of new co-editor, Dr. Sandra E. Juul. Features all-new chapters on Palliative Care, Gastroesophageal Reflux, Platelet Disorders, Transfusion Therapy, Hypertension, , and The Ear and Hearing Disorders, as well as expanded coverage of brain injury and neuroprotective strategies in the preterm and term infant. Contains new Key Points boxes at the beginning of every chapter. Brings you up to date on current topics such as the evolving epidemic of neonatal abstinence syndrome and the new clinical uses of ultrasound (including ultrasound videos online). Expert ConsultTM eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, and references from the book on a variety of devices.

Molecular Epidemiology

Author : Paul A. Schulte
Publisher : Academic Press
ISBN 13 : 0323138578
Total Pages : 609 pages
Book Rating : 4.3/5 (231 download)

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Book Synopsis Molecular Epidemiology by : Paul A. Schulte

Download or read book Molecular Epidemiology written by Paul A. Schulte and published by Academic Press. This book was released on 2012-12-02 with total page 609 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.

Human Genetics and Genomics

Author : Bruce R. Korf
Publisher : John Wiley & Sons
ISBN 13 : 1118537661
Total Pages : 280 pages
Book Rating : 4.1/5 (185 download)

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Book Synopsis Human Genetics and Genomics by : Bruce R. Korf

Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

The Oxford Handbook of Public Health Ethics

Author : Anna C. Mastroianni
Publisher : Oxford University Press
ISBN 13 : 0190245212
Total Pages : 992 pages
Book Rating : 4.1/5 (92 download)

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Book Synopsis The Oxford Handbook of Public Health Ethics by : Anna C. Mastroianni

Download or read book The Oxford Handbook of Public Health Ethics written by Anna C. Mastroianni and published by Oxford University Press. This book was released on 2019-07-23 with total page 992 pages. Available in PDF, EPUB and Kindle. Book excerpt: Natural disasters and cholera outbreaks. Ebola, SARS, and concerns over pandemic flu. HIV and AIDS. E. coli outbreaks from contaminated produce and fast foods. Threats of bioterrorism. Contamination of compounded drugs. Vaccination refusals and outbreaks of preventable diseases. These are just some of the headlines from the last 30-plus years highlighting the essential roles and responsibilities of public health, all of which come with ethical issues and the responsibilities they create. Public health has achieved extraordinary successes. And yet these successes also bring with them ethical tension. Not all public health successes are equally distributed in the population; extraordinary health disparities between rich and poor still exist. The most successful public health programs sometimes rely on policies that, while improving public health conditions, also limit individual rights. Public health practitioners and policymakers face these and other questions of ethics routinely in their work, and they must navigate their sometimes competing responsibilities to the health of the public with other important societal values such as privacy, autonomy, and prevailing cultural norms. This Oxford Handbook provides a sweeping and comprehensive review of the current state of public health ethics, addressing these and numerous other questions. Taking account of the wide range of topics under the umbrella of public health and the ethical issues raised by them, this volume is organized into fifteen sections. It begins with two sections that discuss the conceptual foundations, ethical tensions, and ethical frameworks of and for public health and how public health does its work. The thirteen sections that follow examine the application of public health ethics considerations and approaches across a broad range of public health topics. While chapters are organized into topical sections, each chapter is designed to serve as a standalone contribution. The book includes 73 chapters covering many topics from varying perspectives, a recognition of the diversity of the issues that define public health ethics in the U.S. and globally. This Handbook is an authoritative and indispensable guide to the state of public health ethics today.

Rare Diseases Epidemiology: Update and Overview

Author : Manuel Posada de la Paz
Publisher : Springer
ISBN 13 : 3319671448
Total Pages : 675 pages
Book Rating : 4.3/5 (196 download)

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Book Synopsis Rare Diseases Epidemiology: Update and Overview by : Manuel Posada de la Paz

Download or read book Rare Diseases Epidemiology: Update and Overview written by Manuel Posada de la Paz and published by Springer. This book was released on 2017-12-06 with total page 675 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.