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Clinical Effectiveness And Cost Effectiveness Of Neonatal Screening For Inborn Errors Of Metabolism Using Tandem Mass Spectrometry
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Book Synopsis Neonatal Screening for Inborn Errors of Metabolism by : H. Bickel
Download or read book Neonatal Screening for Inborn Errors of Metabolism written by H. Bickel and published by Springer. This book was released on 2011-11-15 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.
Book Synopsis JIMD Reports - Volume 11 by : Johannes Zschocke
Download or read book JIMD Reports - Volume 11 written by Johannes Zschocke and published by Springer Science & Business Media. This book was released on 2013-08-26 with total page 172 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 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 Clinical and Laboratory Medicine Textbook by : Marcello Ciaccio
Download or read book Clinical and Laboratory Medicine Textbook written by Marcello Ciaccio and published by Springer Nature. This book was released on with total page 719 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Changing Moral Focus of Newborn Screening by : Edmund D. Pellegrino
Download or read book Changing Moral Focus of Newborn Screening written by Edmund D. Pellegrino and published by DIANE Publishing. This book was released on 2011 with total page 174 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is a print on demand edition of a hard to find publication. Nearly 4 million newborns undergo genetic screening (GS) every year in the U.S. Until recently such GS was limited to diseases that were well understood and for which effective treatments were available. Now, however, most mandatory GS programs also test for diseases that are not well understood and for which there is no available treatment. This white paper describes how the change in policy to include GS for untreatable as well as treatable diseases came about. It provides basic info. about the techniques of GS, and the practical and ethical choices parents must face. The Council believes that the potential benefits of mandatory, population-wide newborn GS for diseases for which there is no current treatment are outweighed by the potential harms.
Book Synopsis A Clinical Guide to Inherited Metabolic Diseases by : Joe T. R. Clarke
Download or read book A Clinical Guide to Inherited Metabolic Diseases written by Joe T. R. Clarke and published by Cambridge University Press. This book was released on 2005-12-08 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
Book Synopsis Inherited Metabolic Diseases in Pediatrics: Clinical and Molecular Features by : Yuan-Zong Song
Download or read book Inherited Metabolic Diseases in Pediatrics: Clinical and Molecular Features written by Yuan-Zong Song and published by Frontiers Media SA. This book was released on 2022-12-02 with total page 213 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis DNA-based Population Screening for Precision Public Health by : Laura V. Milko
Download or read book DNA-based Population Screening for Precision Public Health written by Laura V. Milko and published by Frontiers Media SA. This book was released on 2022-11-28 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Human Genome Epidemiology, 2nd Edition by : Muin Khoury
Download or read book Human Genome Epidemiology, 2nd Edition written by Muin Khoury and published by Oxford University Press. This book was released on 2010-01-20 with total page 701 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace. With contributions from leaders in the field from around the world, this new edition is a fully updated look at the ways in which genetic factors in common diseases are studied. Methodologic developments in collection, analysis and synthesis of data, as well as issues surrounding specific applications of human genomic information for medicine and public health are all discussed. In addition, the book focuses on practical applications of human genome variation in clinical practice and disease prevention. Students, clinicians, public health professionals and policy makers will find the book a useful tool for understanding the rapidly evolving methods of the discovery and use of genetic information in medicine and public health in the 21st century.
Book Synopsis The Cambridge Textbook of Bioethics by : Peter A. Singer
Download or read book The Cambridge Textbook of Bioethics written by Peter A. Singer and published by Cambridge University Press. This book was released on 2008-01-31 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medicine and health care generate many bioethical problems and dilemmas that are of great academic, professional and public interest. This comprehensive resource is designed as a succinct yet authoritative text and reference for clinicians, bioethicists, and advanced students seeking a better understanding of ethics problems in the clinical setting. Each chapter illustrates an ethical problem that might be encountered in everyday practice; defines the concepts at issue; examines their implications from the perspectives of ethics, law and policy; and then provides a practical resolution. There are 10 key sections presenting the most vital topics and clinically relevant areas of modern bioethics. International, interdisciplinary authorship and cross-cultural orientation ensure suitability for a worldwide audience. This book will assist all clinicians in making well-reasoned and defensible decisions by developing their awareness of ethical considerations and teaching the analytical skills to deal with them effectively.
Book Synopsis The Ethics of Screening in Health Care and Medicine by : Niklas Juth
Download or read book The Ethics of Screening in Health Care and Medicine written by Niklas Juth and published by Springer Science & Business Media. This book was released on 2011-09-20 with total page 187 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical or health-oriented screening programs are amongst the most debated aspects of health care and public health practices in health care and public health ethics, as well as health policy discussions. In spite of this, most treatments of screening in the research literature restrict themselves to isolated scientific aspects, sometimes complemented by economic analyses or loose speculations regarding policy aspects. At the same time, recent advances in medical genetics and technology, as well as a rapidly growing societal focus on public health concerns, inspires an increase in suggested or recently started screening programs. This book involves an in-depth analysis of the ethical, political and philosophical issues related to health-oriented screening programs. It explores the considerations that arise when heath care interacts with other societal institutions on a large scale, as is the case with screening: What values may be promoted or compromised by screening programs? What conflicts of values do typically arise – both internally and in relation to the goals of health care, on the one hand, and the goals of public health and the general society, on the other? What aspects of screening are relevant for determining whether it should be undertaken or not and how it should be organised in order to remain defensible? What implications does the ethics of screening have for health care ethics as a whole? These questions are addressed by applying philosophical methods of conceptual analysis, as well as models and theories from moral and political philosophy, medical ethics, and public health ethics, to a large number of ongoing and proposed screening programs which makes this book the first comprehensive work on the ethics of screening. Analyses and suggestions are made that are of potential interest to health care staff, medical researchers, policy makers and the general public.
Download or read book Index Medicus written by and published by . This book was released on 2004 with total page 2002 pages. Available in PDF, EPUB and Kindle. Book excerpt: Vols. for 1963- include as pt. 2 of the Jan. issue: Medical subject headings.
Book Synopsis Saving Babies? by : Stefan Timmermans
Download or read book Saving Babies? written by Stefan Timmermans and published by University of Chicago Press. This book was released on 2015-05-06 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Introduction: the consequences of newborn screening -- The expansion of newborn screening -- Patients-in-waiting -- Shifting disease ontologies -- Is my baby normal? -- The limits of prevention -- Does expanded newborn screening save lives? -- Conclusion: the future of expanded newborn screening
Book Synopsis Encyclopedia of Analytical Science by :
Download or read book Encyclopedia of Analytical Science written by and published by Elsevier. This book was released on 2019-04-02 with total page 5142 pages. Available in PDF, EPUB and Kindle. Book excerpt: The third edition of the Encyclopedia of Analytical Science, Ten Volume Set is a definitive collection of articles covering the latest technologies in application areas such as medicine, environmental science, food science and geology. Meticulously organized, clearly written and fully interdisciplinary, the Encyclopedia of Analytical Science, Ten Volume Set provides foundational knowledge across the scope of modern analytical chemistry, linking fundamental topics with the latest methodologies. Articles will cover three broad areas: analytical techniques (e.g., mass spectrometry, liquid chromatography, atomic spectrometry); areas of application (e.g., forensic, environmental and clinical); and analytes (e.g., arsenic, nucleic acids and polycyclic aromatic hydrocarbons), providing a one-stop resource for analytical scientists. Offers readers a one-stop resource with access to information across the entire scope of modern analytical science Presents articles split into three broad areas: analytical techniques, areas of application and and analytes, creating an ideal resource for students, researchers and professionals Provides concise and accessible information that is ideal for non-specialists and readers from undergraduate levels and higher
Download or read book Blood Science written by Andrew Blann and published by John Wiley & Sons. This book was released on 2014-01-02 with total page 866 pages. Available in PDF, EPUB and Kindle. Book excerpt: Blood Science is a relatively new discipline which merges biochemistry, haematology, immunology, transfusion science and genetics. This bringing together of traditional disciplines requires a corresponding change in education and training for healthcare scientists and Blood Science: Principles and Pathology is written in response to this emerging need. An introduction to the subject and an overview of the techniques used in blood science are followed by a series of chapters based on groups of analytes investigated in blood - red blood cells, white blood cells and platelets, followed by the constituents of plasma, including waste products, electrolytes, glucose, lipids, enzymes, hormones, nutrients, drugs, poisons and others. Each chapter is supported by learning objectives, summaries and further information, and a focus is given to chapter specific case studies with interpretation to demonstrate how laboratory data in conjunction with clinical details is utilised when investigating patients with actual or suspected disease. Finally, a separate chapter offers more detailed case reports that integrate the different aspects of blood science. Undergraduate students taking blood science modules as part of their BSc programmes in Biomedical and Healthcare Sciences will appreciate the level of integration between clinical biochemistry and haematology. In addition, this book will provide suitable initial reading for those students embarking on blood science modules on MSc programmes and will be of value to new graduates entering the profession and starting their career in blood science departments by supplementing practice-based training with the required theoretical underpinning. This book is approved by the Institute of Biomedical Science and written by its expert writers, many of whom work on the Institute’s advisory panels.
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.
Book Synopsis Advances in the Use of Liquid Chromatography Mass Spectrometry (LC-MS): Instrumentation Developments and Applications by :
Download or read book Advances in the Use of Liquid Chromatography Mass Spectrometry (LC-MS): Instrumentation Developments and Applications written by and published by Elsevier. This book was released on 2018-01-02 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in the Use of Liquid Chromatography Mass Spectrometry (LC-MS): Instrumentation Developments and Application, Volume 79, highlights the most recent LC-MS evolutions through a series of contributions by world renowned scientists that will lead the readers through the most recent innovations in the field and their possible applications. Many authoritative books on LC-MS are already present in market, describing in detail the different interfaces and their principles of operation. This book focuses more on new trends, starting with the innovations of each technique, to the most progressive challenges of LC-MS. - Presents an understanding of the new advancements in LC and MS which are essential for a step forward in LC-MS applications - Provides insight into the state-of-the-art in the currently available LC-MS interfaces and their principle of use - Expounds on the new frontiers in LC-MS and their application potential
