Download or read book Understanding Neuromuscular Health and Disease written by William Duddy and published by Mdpi AG. This book was released on 2021-11-08 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: This compilation focuses on recent advances in the molecular and cellular understanding of neuromuscular biology, and the treatment of neuromuscular disease. These advances are at the forefront of modern molecular methodologies, often integrating across wet-lab cell and tissue models, dry-lab computational approaches, and clinical studies. The continuing development and application of multiomics methods offer particular challenges and opportunities in the field, not least in the potential for personalized medicine.

Download or read book Multi Omics for the Understanding of Brain Diseases written by and published by . This book was released on 2021-12-13 with total page 204 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book The Neuronal Ceroid Lipofuscinoses Batten Disease written by Sara Mole and published by OUP Oxford. This book was released on 2011-03-10 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.

Download or read book RNA Based Regulation in Human Health and Disease written by and published by Academic Press. This book was released on 2020-08-19 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: RNA-based Regulation in Human Health and Disease offers an in-depth exploration of RNA mediated genome regulation at different hierarchies. Beginning with multitude of canonical and non-canonical RNA populations, especially noncoding RNA in human physiology and evolution, further sections examine the various classes of RNAs (from small to large noncoding and extracellular RNAs), functional categories of RNA regulation (RNA-binding proteins, alternative splicing, RNA editing, antisense transcripts and RNA G-quadruplexes), dynamic aspects of RNA regulation modulating physiological homeostasis (aging), role of RNA beyond humans, tools and technologies for RNA research (wet lab and computational) and future prospects for RNA-based diagnostics and therapeutics. One of the core strengths of the book includes spectrum of disease-specific chapters from experts in the field highlighting RNA-based regulation in metabolic & neurodegenerative disorders, cancer, inflammatory disease, viral and bacterial infections. We hope the book helps researchers, students and clinicians appreciate the role of RNA-based regulation in genome regulation, aiding the development of useful biomarkers for prognosis, diagnosis, and novel RNA-based therapeutics. Comprehensive information of non-canonical RNA-based genome regulation modulating human health and disease Defines RNA classes with special emphasis on unexplored world of noncoding RNA at different hierarchies Disease specific role of RNA - causal, prognostic, diagnostic and therapeutic Features contributions from leading experts in the field

Download or read book Temporomandibular Disorders written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2020-07-01 with total page 427 pages. Available in PDF, EPUB and Kindle. Book excerpt: Temporomandibular disorders (TMDs), are a set of more than 30 health disorders associated with both the temporomandibular joints and the muscles and tissues of the jaw. TMDs have a range of causes and often co-occur with a number of overlapping medical conditions, including headaches, fibromyalgia, back pain and irritable bowel syndrome. TMDs can be transient or long-lasting and may be associated with problems that range from an occasional click of the jaw to severe chronic pain involving the entire orofacial region. Everyday activities, including eating and talking, are often difficult for people with TMDs, and many of them suffer with severe chronic pain due to this condition. Common social activities that most people take for granted, such as smiling, laughing, and kissing, can become unbearable. This dysfunction and pain, and its associated suffering, take a terrible toll on affected individuals, their families, and their friends. Individuals with TMDs often feel stigmatized and invalidated in their experiences by their family, friends, and, often, the health care community. Misjudgments and a failure to understand the nature and depths of TMDs can have severe consequences - more pain and more suffering - for individuals, their families and our society. Temporomandibular Disorders: Priorities for Research and Care calls on a number of stakeholders - across medicine, dentistry, and other fields - to improve the health and well-being of individuals with a TMD. This report addresses the current state of knowledge regarding TMD research, education and training, safety and efficacy of clinical treatments of TMDs, and burden and costs associated with TMDs. The recommendations of Temporomandibular Disorders focus on the actions that many organizations and agencies should take to improve TMD research and care and improve the overall health and well-being of individuals with a TMD.

Download or read book Understanding Neuromuscular Health and Disease Advances in Genetics Omics and Molecular Function written by William Duddy and published by . This book was released on 2021 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: This compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine.

Download or read book Atlas of Neuromuscular Diseases written by Eva L. Feldman and published by Springer. This book was released on 2014-07-23 with total page 335 pages. Available in PDF, EPUB and Kindle. Book excerpt: This atlas presents a comprehensive outline of neuromuscular diseases, written by respected American and European authors. It discusses all aspects of neuromuscular disorders including cranial and spinal nerves, motor neuron diseases, nerve plexus, peripheral nerves, mono- and polyneuropathies, entrapment syndromes, neuromuscular junctions, and muscle disease. Each chapter is structured into the following sections: anatomy, symptoms, signs, pathogenesis, diagnosis and differential diagnosis, therapy and prognosis. The diagnostic tools in neuromuscular disease are explained and practical guidelines are offered on how to advance from symptoms to syndromes. The therapeutic options for each disease are also described. In this new edition, the structure of the chapters has been reorganized and chapters on principles of peripheral nerves, nerve pain, nerve surgery and rehabilitation have been added. The current trend of increased use of imaging techniques such as US and MRI in the diagnosis and follow-up of neuromuscular disorders is also reflected.

Download or read book Genetics in Ophthalmology written by B. Wissinger and published by Karger Medical and Scientific Publishers. This book was released on 2003-01-01 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.

Download or read book Stroke Genetics written by Hugh S. Markus and published by Oxford Medical Publications. This book was released on 2003 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Stroke is a major cause of death and the major cause of adult neurological disability in most of the world. Despite its importance on a population basis, research into the genetics of stroke has lagged behind that of many other disorders. However, the situation is now changing. Anincreasing number of single gene disorders causing stroke are being described, and there is growing evidence that polygenic factors are important in the risk of apparently "sporadic" stroke.Stroke Genetics provides an up-to-date review of the area, suitable for clinicians treating stroke patients, and both clinical and non-clinical researchers in the field of cerebrovascular disease. The full range of monogenic stroke disorders causing cerebrovascular disease, including ischaemicstroke, intracerebral haemorrhage, aneurysms and arteriovenous malformations, are covered. For each, clinical features, diagnosis, and genetics are described. Increasing evidence suggest that genetic factors are also important for the much more common multifactorial stroke; this evidence isreviewed along with the results of genetic studies in this area. Optimal and novel strategies for investigating multifactorial stroke, including the use of intermediate phenotypes such as intima-media thickness and MRI detected small vessel disease are reviewed. The book concludes by describing apractical approach to investigating patients with stroke for underlying genetic disorders. Also included is a list of useful websites.

Download or read book Precision Public Health written by Tarun Weeramanthri and published by Frontiers Media SA. This book was released on 2018-06-25 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Precision Public Health is a new and rapidly evolving field, that examines the application of new technologies to public health policy and practice. It draws on a broad range of disciplines including genomics, spatial data, data linkage, epidemiology, health informatics, big data, predictive analytics and communications. The hope is that these new technologies will strengthen preventive health, improve access to health care, and reach disadvantaged populations in all areas of the world. But what are the downsides and what are the risks, and how can we ensure the benefits flow to those population groups most in need, rather than simply to those individuals who can afford to pay? This is the first collection of theoretical frameworks, analyses of empirical data, and case studies to be assembled on this topic, published to stimulate debate and promote collaborative work.

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.

Download or read book Next Generation Sequencing written by Jerzy Kulski and published by BoD – Books on Demand. This book was released on 2016-01-14 with total page 466 pages. Available in PDF, EPUB and Kindle. Book excerpt: Next generation sequencing (NGS) has surpassed the traditional Sanger sequencing method to become the main choice for large-scale, genome-wide sequencing studies with ultra-high-throughput production and a huge reduction in costs. The NGS technologies have had enormous impact on the studies of structural and functional genomics in all the life sciences. In this book, Next Generation Sequencing Advances, Applications and Challenges, the sixteen chapters written by experts cover various aspects of NGS including genomics, transcriptomics and methylomics, the sequencing platforms, and the bioinformatics challenges in processing and analysing huge amounts of sequencing data. Following an overview of the evolution of NGS in the brave new world of omics, the book examines the advances and challenges of NGS applications in basic and applied research on microorganisms, agricultural plants and humans. This book is of value to all who are interested in DNA sequencing and bioinformatics across all fields of the life sciences.

Download or read book Autism and the Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2008-03-12 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders (ASD) constitute a major public health problem, affecting one in every 150 children and their families. Unfortunately, there is little understanding of the causes of ASD, and, despite their broad societal impact, many people believe that the overall research program for autism is incomplete, particularly as it relates to the role of environmental factors. The Institute of Medicine's Forum on Neuroscience and Nervous System Disorders, in response to a request from the U.S. Secretary of Health and Human Services, hosted a workshop called "Autism and the Environment: Challenges and Opportunities for Research." The focus was on improving the understanding of the ways in which environmental factors such as chemicals, infectious agents, or physiological or psychological stress can affect the development of the brain. Autism and the Environment documents the concerted effort which brought together the key public and private stakeholders to discuss potential ways to improve the understanding of the ways that environmental factors may affect ASD. The presentations and discussions from the workshop that are described in this book identify a number of promising directions for research on the possible role of different environmental agents in the etiology of autism.

Download or read book Osteosarcopenia Bone Muscle and Fat Interactions written by Gustavo Duque and published by Springer Nature. This book was released on 2019-11-06 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt: This edited work presents the most current evidence on osteosarcopenia from bench to bedside, which is expected to facilitate the understanding of this syndrome and to develop preventive and therapeutic strategies. With our aging population, chronic diseases such as osteoporosis and sarcopenia are becoming highly prevalent. Fortunately, our understanding of the bone and muscle interactions has increased in recent years. This has allowed to the coining of the term osteosarcopenia to describe a syndrome in which these two diseases overlap. This overlap between osteoporosis and sarcopenia has major negative effects not only on our older adults but also on health systems worldwide. Readers will find a highly translational approach that starts with a summary of recent discoveries on stem cells biology, muscle and bone interactions – including the role of local bone and muscle fat – followed by comprehensive reviews on myokines (i.e. myostatin), osteokines (i.e. osteocalcin) and adipokines (i.e. interleukins) as major players and determinants of bone and muscle loss with aging. In addition, the role of sex steroids (i.e. estrogens, androgens), and calciotropic hormones (i.e. parathyroid hormone, vitamin D) in the pathogenesis of this syndrome is also reviewed. Moreover, using practical diagnostic and therapeutic tips, this book summarizes the clinical characteristics of osteosarcopenic patients thus facilitating the diagnosis and treatment of this syndrome in clinical practice. Finally, the book presents the case for the Falls and Fractures Clinic as the optimal model of care for this syndrome, aimed to avoid fragmentation and optimize osteosarcopenia care, and simultaneously prevent falls and fractures in older persons. This book offers relevant information on the mechanisms of osteosarcopenia, and a practical guide on how to identify and treat this geriatric syndrome and its adverse outcomes, which are dramatically affecting our aging population. The work is written by leaders in the field and is especially suited not only to any researcher in the musculoskeletal arena but also to medical specialists and allied health professionals involved in the care of older persons.

Download or read book Periparturient Diseases of Dairy Cows written by Burim N. Ametaj and published by Springer. This book was released on 2017-12-21 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book summarizes the results achieved so far by application of various biological systems (including genomics, transcriptomics, proteomics, and metabolomics) involved in the pathomechanisms and early diagnosis of periparturient diseases as specific biomarkers of disease in cattle. These emerging technologies help to extensively enhance our understanding of the etiology and pathogenesis of periparturient diseases of transition dairy cows. The book includes a chapter dedicated to ‘omics’ sciences and one that discusses the myths established in animal and veterinary sciences in recent decades and emerging, new paradigms. The diseases discussed include metritis, mastitis, laminitis, ketosis, rumen acidosis, periparturient immunosuppression, gastrointestinal microbiota and their involvement in disease, infertility, fatty liver, milk fever, and retained placenta. This book is intended for academics, veterinarians, animal nutritionists, researchers, and graduate students working in the field of ‘omics sciences’ with a special interest in dairy cattle health.

Download or read book Spinal Muscular Atrophy written by Charlotte J Sumner and published by Academic Press. This book was released on 2016-10-24 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt: Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle atrophy, and is the leading genetic cause of infant mortality. Since the identification of the gene responsible for SMA in 1995, there have been important advances in the basic understanding of disease mechanisms, and in therapeutic development. This book provides a comprehensive accounting of recent advances in basic and clinical research that covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, and biomarkers, as well as current therapeutic development. This title is ideal for graduate students/postdocs and principal investigators who are already in the SMA field and need to keep updated on recent findings and approaches, and for those who are new to, or would like to join, the field. Likewise, users will find an excellent source of reading for biotech/pharma scientists, clinical researchers, and practitioners, regulators, and patients and their advocacy organizations. Furthermore, this book is a handy reference for researchers and clinicians who may want to apply the research strategies and therapeutic approaches in SMA to other rare diseases. Provides comprehensive, up-to-date reviews by leading investigators on diverse topics of SMA, including clinical features and patient care, SMN genetics and protein functions, animal models, disease pathology and mechanisms, biomarkers, current therapeutic development, and the role of non-profit organizations in therapeutic development Written to bridge multiple disciplines and promote better communications among basic scientists, clinical researchers, and health care providers on the latest developments in SMA Includes outstanding questions and perspectives for future investigations and key references for additional detailed study

Download or read book Molecular Exercise Physiology written by Adam Sharples and published by Taylor & Francis. This book was released on 2022-05-11 with total page 359 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fully revised and expanded, the second edition of Molecular Exercise Physiology offers a student-friendly introduction. It introduces a history documenting the emergence of molecular biology techniques to investigate exercise physiology, the methodology used, exercise genetics and epigenetics, and the molecular mechanisms that lead to adaptation after different types of exercise, with explicit links to outcomes in sport performance, nutrition, physical activity and clinical exercise. Structured around key topics in sport and exercise science and featuring contributions from pioneering scientists, such as Nobel Prize winners, this edition includes new chapters based on cutting-edge research in epigenetics and muscle memory, satellite cells, exercise in cancer, at altitude, and in hot and cold climates. Chapters include learning objectives, structured guides to further reading, review questions, overviews of work by key researchers and box discussions from important pioneers in the field, making it a complete resource for any molecular exercise physiology course. The book includes cell and molecular biology laboratory methods for dissertation and research projects in molecular exercise physiology and muscle physiology. This book is essential reading for upper-level undergraduate or postgraduate courses in cellular and molecular exercise physiology and muscle physiology. It is a valuable resource for any student with an advanced interest in exercise physiology in both sport performance and clinical settings.