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Systems Analysis Of Human Multigene Disorders
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Book Synopsis Systems Analysis of Human Multigene Disorders by : Natalia Maltsev
Download or read book Systems Analysis of Human Multigene Disorders written by Natalia Maltsev and published by Springer Science & Business Media. This book was released on 2013-11-29 with total page 122 pages. Available in PDF, EPUB and Kindle. Book excerpt: Understanding the genetic architecture underlying complex multigene disorders is one of the major goals of human genetics in the upcoming decades. Advances in whole genome sequencing and the success of high throughput functional genomics allow supplementing conventional reductionist biology with systems-level approaches to human heredity and health as systems of interacting genetic, epigenetic, and environmental factors. This integrative approach holds the promise of unveiling yet unexplored levels of molecular organization and biological complexity. It may also hold the key to deciphering the multigene patterns of disease inheritance.
Book Synopsis Mitochondrial Medicine by : Salvatore DiMauro
Download or read book Mitochondrial Medicine written by Salvatore DiMauro and published by CRC Press. This book was released on 2006-04-19 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently available in different specialties - thus making it essential reading for clinicians involved with the management of patients with mitochondrial diseases. A unique work, this text covers a range of specialties, including cardiology, ophthalmology, otology, nephrology, gastroenterology, hematology-oncology, and reproductive medicine, and does not focus exclusively on the more commonly known neurologic conditions. An accessible, user-friendly text, it also presents translational concepts of mitochondrial biogenesis and genetics in vignettes related to specific questions raised by the disease under discussion, rather than concentrating on basic science, which can often intimidate clinicians. This pioneering work is primarily directed to a clinical audience who are interested in the diverse and diagnostically challenging clinical presentations of mitochondrial diseases and their pathophysiology.
Book Synopsis Genetics of Obesity Syndromes by : Philip R. Beales
Download or read book Genetics of Obesity Syndromes written by Philip R. Beales and published by Oxford University Press. This book was released on 2008-08-29 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients. The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.
Book Synopsis Genetic Diseases of the Eye by : Elias I. Traboulsi
Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.
Book Synopsis Neonatal Hematology by : Pedro A. de Alarcón
Download or read book Neonatal Hematology written by Pedro A. de Alarcón and published by Cambridge University Press. This book was released on 2021-02-18 with total page 501 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential guide to the pathogenesis, diagnosis and management of hematologic problems in the neonate, covering erythrocyte disorders, leukocyte disorders, immunologic disorders and hemostatic disorders. Guidance is practical, including blood test interpretation, advice on transfusions and reference ranges for hematological values.
Book Synopsis Evolution of Translational Omics by : Institute of Medicine
Download or read book Evolution of Translational Omics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-09-13 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.
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 426 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.
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.
Book Synopsis Recent Advances in Molecular and Translational Medicine: Updates in Precision Medicine by : Somchai Chutipongtanate
Download or read book Recent Advances in Molecular and Translational Medicine: Updates in Precision Medicine written by Somchai Chutipongtanate and published by Bentham Science Publishers. This book was released on 2021-12-13 with total page 256 pages. Available in PDF, EPUB and Kindle. Book excerpt: Precision medicine is a disruptive innovation with a fast-evolving pace in the healthcare ecosystem. Precision medicine enables precise diagnosis and targeted treatment by considering individual variability in the abnormalities of causative genes and molecular drivers behind biochemical mechanisms. A vast amount of data created by advanced omics technologies is a foundation of precision medicine’s success, and the implications of the findings from these technologies can potentially improve clinical outcomes. Recent Advances in Molecular and Translational Medicine: Updates in Precision Medicine presents essential information of molecular and translational research in precision medicine, with a specific focus on pediatrics. This book provides an accessible introduction to omics technologies, gives a detailed explanation of bioinformatics workflows to interpret high-throughput omics profiles for molecular diagnosis, and collects some of the cutting-edge research for precise therapeutics. Contributions to the book have been provided by experts in biomedical engineering and clinical practice, thus, bringing an informed perspective to the reader on each topic. The book is a valuable resource for postgraduate students, researchers, data scientists and clinicians interested in precision medicine, as well as researchers in the field of genetics and pediatrics who are interested in understanding the role of precision medicine in clinical practice.
Book Synopsis Mitochondrial Dysfunction by : Lawrence H. Lash
Download or read book Mitochondrial Dysfunction written by Lawrence H. Lash and published by Elsevier. This book was released on 2013-10-22 with total page 528 pages. Available in PDF, EPUB and Kindle. Book excerpt: Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnormal mitochondrial function in cell injury. The book discusses the methods for the preparation and basic functional assessment of mitochondria from liver, kidney, muscle, and brain; the methods for assessing mitochondrial dysfunction in vivo and in intact organs; and the structural aspects of mitochondrial dysfunction are addressed. The text also describes chemical detoxification and metabolism as well as specific metabolic reactions that are especially important targets or indicators of damage. The methods for measurement of alterations in fatty acid and phospholipid metabolism and for the analysis and manipulation of oxidative injury and antioxidant systems are also considered. The book further tackles additional methods on mitochondrial energetics and transport processes; approaches for assessing impaired function of mitochondria; and genetic and developmental aspects of mitochondrial disease and toxicology. The text also looks into mitochondrial DNA synthesis, covalent binding to mitochondrial DNA, DNA repair, and mitochondrial dysfunction in the context of developing individuals and cellular differentiation. Microbiologists, toxicologists, biochemists, and molecular pharmacologists will find the book invaluable.
Author :Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation Publisher :National Academies Press ISBN 13 :0309133343 Total Pages :422 pages Book Rating :4.3/5 (91 download)
Book Synopsis Health Risks from Exposure to Low Levels of Ionizing Radiation by : Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation
Download or read book Health Risks from Exposure to Low Levels of Ionizing Radiation written by Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation and published by National Academies Press. This book was released on 2006-03-23 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the seventh in a series of titles from the National Research Council that addresses the effects of exposure to low dose LET (Linear Energy Transfer) ionizing radiation and human health. Updating information previously presented in the 1990 publication, Health Effects of Exposure to Low Levels of Ionizing Radiation: BEIR V, this book draws upon new data in both epidemiologic and experimental research. Ionizing radiation arises from both natural and man-made sources and at very high doses can produce damaging effects in human tissue that can be evident within days after exposure. However, it is the low-dose exposures that are the focus of this book. So-called “late” effects, such as cancer, are produced many years after the initial exposure. This book is among the first of its kind to include detailed risk estimates for cancer incidence in addition to cancer mortality. BEIR VII offers a full review of the available biological, biophysical, and epidemiological literature since the last BEIR report on the subject and develops the most up-to-date and comprehensive risk estimates for cancer and other health effects from exposure to low-level ionizing radiation.
Author :Charles R. Scriver Publisher :New York ; Montreal : McGraw-Hill ISBN 13 :9780071363198 Total Pages :6338 pages Book Rating :4.3/5 (631 download)
Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver
Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Book Synopsis Synthesis of Bionanomaterials for Biomedical Applications by : Munir Ozturk
Download or read book Synthesis of Bionanomaterials for Biomedical Applications written by Munir Ozturk and published by Elsevier. This book was released on 2023-01-11 with total page 580 pages. Available in PDF, EPUB and Kindle. Book excerpt: Synthesis of Bionanomaterials for Biomedical Applications summarizes a range of procedures, including green synthesis of metal nanoparticles, metal oxide nanoparticles, and other types of nanoparticles while also exploring the appropriate use of these nanoparticles in various therapeutic applications such as anticancer, antibacterial, antifungal, drug delivery, and more. The book provides important information for materials scientists and pharmaceutical scientists on the synthesis of various nanoparticles using a variety of eco-friendly bionanomaterials. As concern has arisen regarding the environmental impact caused by some of nanomaterials, as well as their possible toxicity to cells, this book presents information on a new generation of eco-friendly materials. In addition, the green synthesis of nanoparticles shows how environmentally-friendly nanoparticles can be synthesized from different biological sources, such as microbes, fungi, algae and plants. Provides information on the synthesis and application of eco-friendly bionanomaterials Offers coverage of nanomaterials generated through green synthesis Assesses the challenges of manufacturing eco-friendly nanomaterials on an industrial scale
Book Synopsis Neurodegeneration and Alzheimer's Disease by : Ralph N. Martins
Download or read book Neurodegeneration and Alzheimer's Disease written by Ralph N. Martins and published by John Wiley & Sons. This book was released on 2019-07-10 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: Understanding the impact of diet, exercise, genetics, and hormones on the risk and development of Alzheimer’s and other neurogenerative diseases Diet is widely known to impact on neurological function. Nevertheless, academic texts discussing this relationship are relatively few in number. This book therefore fills an important gap in the current literature. Opening with an overview of neurodegenerative diseases, particularly Alzheimer’s disease, the text then focuses on explaining the means by which glycemic control and lipid metabolism – and associated nutritional and lifestyle variables – may factor into such disorders’ prevention and treatment. An international group of experts in the fields of food science and neurodegeneration have contributed chapters that examine Alzheimer’s disease within a broad range of contexts. Offering dietary, genetic, and hormonal perspectives, the authors explore topics ranging from sugar consumption to digestive fermentation, and Alzheimer’s disease animal models to the cognition-enhancing effects of physical exercise. Also included are overviews of the latest research into current and developing methods of treatment and diagnosis, as well as differential diagnostics. This groundbreaking book: Explores how glucose metabolism, insulin resistance, lipid metabolism, and high intake of refined carbohydrates are linked to Alzheimer's disease Discusses how genetic makeup can impact risk of Alzheimer’s and Parkinson’s disease Examines cognitive changes in neurodegeneration, lists current tests for determining cognitive impairment, and provides information concerning differential diagnosis Discusses potential advantages of increasing antioxidant and micronutrient intake Reviews hormonal influences on neurodegeneration Examines the links between protein intake and Alzheimer’s disease. Neurodegeneration and Alzheimer's Disease is an essential resource for researchers, medical practitioners, dietitians, and students with an interest in neurological diseases and their diagnosis and risk factors, as well as diet-related conditions such as diabetes and obesity. Lifestyle and diet influence neurodegeneration risk, and a better understanding of this evidence amongst health professionals will hopefully lead to greater public awareness of how to reduce the likelihood of these widespread conditions.
Download or read book Human Prion Diseases written by and published by Elsevier. This book was released on 2018-06-07 with total page 512 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Prion Diseases, Volume 153 is designed to update the reader on the latest advances and clinical aspects of prion diseases. The book is organized into five sections, including the pathophysiology of prions and a description of animal and human diseases. This is followed by detailed reports on recent advances in diagnosis strategies for the development of novel anti-prion molecules and possible designs of clinical trials in such a rare disease. An introductory chapter gives an extensive historical background of prion research, with a final chapter highlighting recent progress, and more importantly, unsolved problems. Offers an authoritative overview of prion diseases in humans, detailing the pathogenesis of the disease, clinical investigations, and the diagnosis of both the genetic and acquired forms Provides clarity and context by presenting prion diseases in relation to other neurodegenerative diseases in humans Emphasizes the unique properties of prion diseases and consequent problems they can cause, both clinically and in public health terms
Book Synopsis Antigenic Variation by : Alister G. Craig
Download or read book Antigenic Variation written by Alister G. Craig and published by Elsevier. This book was released on 2003-08-20 with total page 464 pages. Available in PDF, EPUB and Kindle. Book excerpt: The topic of antigenic variation is important in both biology and medicine. It is of enormous interest, as it describes the process(es) whereby microorganisms 'shift shape', by genetic rearrangement or otherwise. In medical terms, this has a major impact on the infectious disease process, since the immune system has great difficulty in keeping up with this variation, and thus eliminating the infectious agent. Antigenic variation is a major method by which microbes evade the immune response, and persist in the body. The broad scope of the book appeals to all those working in the field of infectious disease, immunology of infection, pathogenesis, molecular biology and also to evolutionary biologists. Topics covered include not only bacterial species, and viruses such as influenza, HIV, Rotavirus, but also eukaryotic parasites - one of the most fascinating groups of organisms exhibiting this behaviour. Comprehensive coverage of antigenic variation from viruses to parasites Discussions devoted to molecular mechanisms of host evasion Detailed descriptions of host/pathogen interactions
Book Synopsis Making the Mexican Diabetic by : Michael Montoya
Download or read book Making the Mexican Diabetic written by Michael Montoya and published by Univ of California Press. This book was released on 2011-03-18 with total page 282 pages. Available in PDF, EPUB and Kindle. Book excerpt: “Making the Mexican Diabetic presents a finely-honed ethnography. Montoya is particularly attuned to the sensitivity and conundrums surrounding the use of DNA drawn from a population at high risk of diabetes, and he makes a strong case for understanding the rational value behind this approach as well as its potential reinforcement of racial stereotypes. This is a unique and important book.”- Rayna Rapp, author of Testing Women, Testing the Fetus: The Social Impact of Amniocentesis in America "This is a fascinating, broad-ranging, and fair-minded ethnography. In the best tradition of science studies, Montoya takes the scientific research seriously on its own terms. Yet he always brings us back to the sociopolitical context, including the tremendous conditions of inequality that Mexican immigrants encounter in the United States.” -Steven Epstein, Northwestern University
