Read Books Online and Download eBooks, EPub, PDF, Mobi, Kindle, Text Full Free.
Newborn Screening And Genetic Testing Symposium
Download Newborn Screening And Genetic Testing Symposium full books in PDF, epub, and Kindle. Read online Newborn Screening And Genetic Testing Symposium ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!
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.
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.
Book Synopsis Genomic and Personalized Medicine by :
Download or read book Genomic and Personalized Medicine written by and published by Academic Press. This book was released on 2008-11-11 with total page 669 pages. Available in PDF, EPUB and Kindle. Book excerpt: This two-volume set — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — provides an in-depth look at one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. The inclusion of the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more presents this book as an essential tool for both students and specialists across many biological and medical disciplines, including human genetics and genomics, oncology, neuroscience, cardiology, infectious disease, molecular medicine, and biomedical science, as well as health policy disciplines focusing on ethical, legal, regulatory and economic aspects of genomics and medicine.Volume One Includes:Principles, Methodology and Translational Approaches, takes readers on the journey from principles of human genomics to technology, informatic and computational platforms for genomic medicine, as well as strategies for translating genomic discoveries into advances in personalized clinical care.Volume Two Includes:Genome Discoveries and Clinical Applications presents the latest developments in disease-based genomic and personalized medicine. With chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, this work provides the most comprehensive guide to the principles and practice of genomic and personalized medicine. - Highly Commended 2013 BMA Medical Book Award for Medicine - Contributions from leaders in the field provide unparalleled insight into current technologies and applications in clinical medicine. - Full colour throughout enhances the utility of this work as the only available comprehensive reference for genomic and personalized medicine. - Discusses scientific foundations and practical applications of new discoveries, as well as ethical, legal/regulatory, and social issues related to the practice of genomic medicine.
Download or read book Testing Baby written by Rachel Grob and published by Rutgers University Press. This book was released on 2011-09-01 with total page 291 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within forty-eight hours after birth, the heel of every baby in the United States has been pricked and the blood sent for compulsory screening to detect or rule out a large number of disorders. Newborn screening is expanding rapidly, fueled by the prospect of saving lives. Yet many lives are also changed by it in ways not yet recognized. Testing Baby is the first book to draw on parents’ experiences with newborn screening in order to examine its far-reaching sociological consequences. Rachel Grob’s cautionary tale also explores the powerful ways that parents’ narratives have shaped this emotionally charged policy arena. Newborn screening occurs almost always without parents’ consent and often without their knowledge or understanding, yet it has the power to alter such things as family dynamics at the household level, the context of parenting, the way we manage disease identity, and how parents’ interests are understood and solicited in policy debates.
Book Synopsis Avery's Diseases of the Newborn: First South Asia Edition-E-Book by : Christine A Gleason, MD
Download or read book Avery's Diseases of the Newborn: First South Asia Edition-E-Book written by Christine A Gleason, MD and published by Elsevier Health Sciences. This book was released on 2018-05-23 with total page 1973 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, easy-to-use single volume that focuses on key areas of practice. Now in a thoroughly revised first South Asia 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 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
Book Synopsis Nutrition Management of Patients with Inherited Metabolic Disorders by : Acosta
Download or read book Nutrition Management of Patients with Inherited Metabolic Disorders written by Acosta and published by Jones & Bartlett Publishers. This book was released on 2010-10-22 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: 5 Stars! Doody's Book Review Written by the foremost nutritionists in the United States, each of whom has more than 15 years of clinical experience providing nutrition management of patients with an inherited metabolic disorder (IMD), Nutrition Management of Patients with Inherited Metabolic Disorders supplies information to enhance the knowledge and skills needed by nutritionists/dietitians and other health care professionals who provide services to patients with IMDs. Many disorders that are disastrous to patients have been diagnosed and managed by diet, improving neurological and physical outcomes. However, nutrition problems still occur, whether due to the quality of the medical foods, inadequate prescription by health care providers or poor diet adherence by the patient. This book describes these problems and helps medical food manufacturers, medical geneticists, nutritionists/dietitians, and other health care providers find alternative forms of nutrients that would provide optimal nutrition and health for the patients.
Book Synopsis Newborn Screening Systems by : Carlie J. Driscoll
Download or read book Newborn Screening Systems written by Carlie J. Driscoll and published by Plural Publishing. This book was released on 2010-02-15 with total page 249 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Lysosomal Storage Diseases by : Rossella Parini
Download or read book Lysosomal Storage Diseases written by Rossella Parini and published by John Libbey Eurotext. This book was released on 2010 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in the field of lysoso-mal storage diseases (LSDs), transforming many of them from dire, untreatable progressive diseases to conditions that allow for possible cure or mitigation. In addition to the presently employed techniques of haematopoietic stem cell transplantation and enzyme replacement for a number of lysoso-mal storage diseases, other therapeutic approaches are being developed that are based on different principles. The awareness that the efficacy of treatment is greater if adminis-tered at the first signs of disease or, even better, during the pre-symptomatic phase underscores the urgency of early clinical diagnosis. Efforts are being made to improve the clinical acumen of paediatricians, paediatric surgeons and neurologists, rheumatologists, orthopaedists, and other professionals who come into early contact with children with LSDs. The possibility of including some of these disorders in routine neonatal screening is also a matter of discussion. This volume provides an updated overview of epidemiologic, biochemical, genetic, pathogenetic, and clinical aspects of these disorders and outlines the various treatment options currently available for the LSDs. The need for patients with rare diseases like LSDs to be followed-up in a specialised centre is emphasised in view of the many kinds of multidisciplinary treatment that are needed to improve the quality of life and survival of these children.
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.
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.
Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz
Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2021-11-02 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: **Selected for Doody's Core Titles® 2024 in Clinical Genetics** Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. - Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications - Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies - Includes color images that support the identification, concept illustration, and method of processing - Features contributions by leading international researchers and practitioners of medical genetics - Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field
Book Synopsis Strengthening Forensic Science in the United States by : National Research Council
Download or read book Strengthening Forensic Science in the United States written by National Research Council and published by National Academies Press. This book was released on 2009-07-29 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Scores of talented and dedicated people serve the forensic science community, performing vitally important work. However, they are often constrained by lack of adequate resources, sound policies, and national support. It is clear that change and advancements, both systematic and scientific, are needed in a number of forensic science disciplines to ensure the reliability of work, establish enforceable standards, and promote best practices with consistent application. Strengthening Forensic Science in the United States: A Path Forward provides a detailed plan for addressing these needs and suggests the creation of a new government entity, the National Institute of Forensic Science, to establish and enforce standards within the forensic science community. The benefits of improving and regulating the forensic science disciplines are clear: assisting law enforcement officials, enhancing homeland security, and reducing the risk of wrongful conviction and exoneration. Strengthening Forensic Science in the United States gives a full account of what is needed to advance the forensic science disciplines, including upgrading of systems and organizational structures, better training, widespread adoption of uniform and enforceable best practices, and mandatory certification and accreditation programs. While this book provides an essential call-to-action for congress and policy makers, it also serves as a vital tool for law enforcement agencies, criminal prosecutors and attorneys, and forensic science educators.
Book Synopsis Patients as Policy Actors by : Beatrix Hoffman
Download or read book Patients as Policy Actors written by Beatrix Hoffman and published by Rutgers University Press. This book was released on 2011-07-20 with total page 323 pages. Available in PDF, EPUB and Kindle. Book excerpt: Patients as Policy Actors offers groundbreaking accounts of one of the health field's most important developments of the last fifty years--the rise of more consciously patient-centered care and policymaking. The authors in this volume illustrate, from multiple disciplinary perspectives, the unexpected ways that patients can matter as both agents and objects of health care policy yet nonetheless too often remain silent, silenced, misrepresented, or ignored. The volume concludes with a unique epilogue outlining principles for more effectively integrating patient perspectives into a pluralistic conception of policy-making. With the recent enactment of the Patient Protection and Affordable Care Act, patients' and consumers' roles in American health care require more than ever the careful analysis and attention exemplified by this innovative volume.
Book Synopsis Personalized Nutrition for the Diverse Needs of Infants and Children by : Dennis M. Bier
Download or read book Personalized Nutrition for the Diverse Needs of Infants and Children written by Dennis M. Bier and published by Karger Medical and Scientific Publishers. This book was released on 2008 with total page 283 pages. Available in PDF, EPUB and Kindle. Book excerpt: Research shows that humans respond differently to diets and, moreover, that they display varying predispositions to many diet-dependent metabolic and degenerative diseases. The focus of nutritional science is thus shifting from dietary guidelines for populations to individualized foods and diets. It is the aim of nutrigenomics to assign this human diversity in nutritional response to diet - as well as the subsequent consequences to human health - to specific genetic elements. At the same time, evidence suggests that diet itself is a critical determinant of human diversity. Supplying answers to some crucial issues, as well as identifying directions for further research and practical applications by the food industry, this publication is an important source of information for all those involved in the subject of diet and individual responses.
Book Synopsis JIMD Reports - Case and Research Reports, Volume 13 by : Johannes Zschocke
Download or read book JIMD Reports - Case and Research Reports, Volume 13 written by Johannes Zschocke and published by Springer. This book was released on 2014-07-24 with total page 164 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Book Synopsis Screening of Newborns for Congenital Hypothyroidism by : Bradford L. Therrell
Download or read book Screening of Newborns for Congenital Hypothyroidism written by Bradford L. Therrell and published by IAEA. This book was released on 2005 with total page 144 pages. Available in PDF, EPUB and Kindle. Book excerpt: Congenital hypothyroidism, when undiagnosed or if there is a lack of proper treatment management, results in an unnecessary health, economic and social burden. Formalized screening programs to detect congenital hypothyroidism in newborn infants, and its timely treatment, can prevent lifelong human suffering caused by severe mental retardation. With the involvement of the IAEA, such screening programs have been introduced successfully in a large number of countries. However, in many other countries such programs have not yet been established. This publication is intended to assist these countries in establishing and sustaining a comprehensive screening system for newborns, and draws on experience gained over more than a decade. It provides information for making sound screening policy decisions and describes how a newborn screening system should be set up, offering guidance on assessing the quality of the system. The intended result is that more successful programs will be established, bringing about a significant improvement in child health care worldwide.--Publisher's description.
Book Synopsis Morbidity and Mortality Weekly Report by :
Download or read book Morbidity and Mortality Weekly Report written by and published by . This book was released on 2012 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt:
