Download or read book Lysosomal Storage Disorders written by Atul B. Mehta and published by John Wiley & Sons. This book was released on 2012-09-06 with total page 1 pages. Available in PDF, EPUB and Kindle. Book excerpt: The last two decades have seen a huge expansion in research in the area of lysosomal storage disorders, which has substantially extended our understanding of both the scientific and the clinical basis of these diseases. Lysosomal Storage Disorders: A Practical Guide is the fruit of an ambitious project aiming to review both the scientific and the clinical aspects of lysosomal storage disorders, resulting in this accessible volume, which gives an up-to-date overview of the subject. There is substantial scientific interest in these diseases: new advances in small molecule therapy are likely to be useful in the near future, and trials are already underway. Lysosomal storage disorders offer a unique platform for teaching modern clinical science, from basic genetics through to clinical applications. The first part of the book reviews and classifies our current understanding of the physiology and pathophysiology of lysosomal storage disorders. The second part of the book reviews individual diseases, and gives perspectives from patients and experts looking towards future therapeutic directions. Lysosomal Storage Disorders: A Practical Guide is the ideal guide for a wide audience including scientists, clinicians, health care workers and administrators, those working in the pharmaceutical industry, patients and their organisations. Titles of related interest Haematology at a Glance • Mehta • ISBN 9781405179706 Atlas of Endocrine and Metabolic Disease • Pozzilli • ISBN 9780470656273
Download or read book Lysosomal Storage Disorders written by Gregory M. Pastores and published by World Scientific. This book was released on 2010 with total page 179 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents an overview of lysosomal storage disorders, and provides the reader with an understanding of clinical features, associated complications, and diagnosis and management approaches. It also describes historical developments in the field and current thinking relating to pathophysiology and prospective therapeutic strategies. The book is written by an expert in the field who has been engaged in both basic and clinical research, in addition to having extensive practical experience in patient care. It is written from the perspective of someone who entered the field just as treatment was being introduced, and who has been engaged in the seminal clinical trials and the development of therapeutic guidelines. It offers a broad perspective and should appeal to both novices and experts in the field who seek a single resource that provides a comprehensive picture of relevant topics on this subject. A multi-faceted volume, the author addresses the issue of diagnosis and patient management, underlying mechanisms of disease, sources of morbidity and treatment options, covering issues of interest to both the basic scientist and the clinician. Sample Chapter(s). Foreword (34 KB). Chapter 1: Introduction (1,266 KB). Contents: Clinical Perspectives; Diagnostic Confirmation and Screening Protocols; Assessment of Disease Burden and Assignment of Disease Severity; Pathophysiology and Biomarkers; Current and Emerging Therapies; Future Prospects. Readership: Graduate medical students, nurses, genetic counselors and physicians.
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 772 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 Lysosomal Disorders of the Brain written by Steven U. Walkley and published by . This book was released on 2004 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they collectively represent a significant group of diseases that primarily present in early infancy or childhood. In recent yearsconsiderable progress has been made in understanding the molecular mechanisms that lead to disordered function of the lysosomal system and to lysosomal storage. Unravelling the basis for these diseases is providing unique insight into the normal biology of cells and pointing the way to thedevelopment of therapeutic strategies for their treatment. Lysosomal Disorders of Brain details recent advances in the molecular and cellular pathologies of these diseases and in the development of effective therapies. After an overview of the biology of the endosomal-lysosomal system and the types of diseases resulting from defects in this system, thebook describes in detail the molecular mechanisms of storage, model systems and pathophysiological mechanisms, and finally, new advances toward treatment. With each chapter written by leading experts in their field, this book will be valuable for scientists and clinicians in helping them understandthe role of lysosomes in normal cells and mechanisms underlying these disorders, how they can be diagnosed, and the treatment options that are currently available.
Download or read book Placental and Gestational Pathology with Online Resource written by Raymond W. Redline and published by Cambridge University Press. This book was released on 2018-08-23 with total page 367 pages. Available in PDF, EPUB and Kindle. Book excerpt: A guide to identifying disease processes in the placenta affecting pregnancy outcome, with current diagnostic criteria and clinical consequences.
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2007-05-07 with total page 995 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.
Download or read book Gaucher Disease written by Anthony H. Futerman and published by CRC Press. This book was released on 2006-07-07 with total page 553 pages. Available in PDF, EPUB and Kindle. Book excerpt: In September of 2007 Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition! Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable proto
Download or read book Biometals in Neurodegenerative Diseases written by Anthony R. White and published by Academic Press. This book was released on 2017-04-28 with total page 468 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biometals in Neurodegenerative Diseases: Mechanisms and Therapeutics is an authoritative and timely resource bringing together the major findings in the field for ease of access to those working in the field or with an interest in metals and their role in brain function, disease, and as therapeutic targets. Chapters cover metals in Alzheimer's Disease, Parkinson's Disease, Motor Neuron Disease, Autism and lysosomal storage disorders. This book is written for academic researchers, clinicians and advanced graduate students studying or treating patients in neurodegeneration, neurochemistry, neurology and neurotoxicology. The scientific literature in this field is advancing rapidly, with approximately 300 publications per year adding to our knowledge of how biometals contribute to neurodegenerative diseases. Despite this rapid increase in our understanding of biometals in brain disease, the fields of biomedicine and neuroscience have often overlooked this information. The need to bring the research on biometals in neurodegeneration to the forefront of biomedical research is essential in order to understand neurodegenerative disease processes and develop effective therapeutics. - Authoritative and timely resource bringing together the major findings in the field for those with an interest in metals and their role in the brain function, disease, and as therapeutic targets - Written for academic researchers, clinicians, and advanced graduate students studying, or treating, patients in neurodegeneration, neurochemistry, neurology and neurotoxicology - Edited by international leaders in the field who have contributed greatly to the study of metals in neurodegenerative diseases
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Download or read book Lysosomes written by Frederick R. Maxfield and published by John Wiley & Sons. This book was released on 2016-06-22 with total page 586 pages. Available in PDF, EPUB and Kindle. Book excerpt: Discussing recent findings, up-to-date research, and novel strategies, the book integrates perspectives from pharmacology, toxicology, and biochemistry to illustrate the potential of lysosomes in drug discovery and development. • Explores basic principles and properties of lysosomes that allow them to act as regulators of cell metabolism, therapeutic targets, and sites for activation of drug conjugates • Discusses the role of lysosomes in metabolism, drug targeting, apoptosis, cancer, aging, inflammation, autophagy, metabolism, toxicity, and membrane repair • Introduces new pathways in therapeutic development and new mechanisms in drug development
Download or read book Skin and the Heart written by Carmen Salavastru and published by Springer Nature. This book was released on 2021-03-10 with total page 494 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book describes the relationship of the skin with cardiovascular disease. It details the variety of genetic, autoimmune, metabolic and endocrine factors that link the two disciplines. Recognition of one sign or symptom in dermatology can lead to the investigation and discovery of an important related cardiac condition, the recognition of which is important to prevent cardiovascular complications. Similarly, a cardiac condition may be related to an underlying skin condition that requires treatment. Genetic examples of such instances included within the book include: pseudoxanthoma elasticum, epidermolysis bullosa with desmosome defects and plectin defects; Marfan syndrome; Autoimmune conditions include vasculitis, sarcoidosis, lupus; metabolic conditions include insulin resistance, eruptive xanthomas with hypertriglyceridemias and elevated cholesterol; endocrine disorders include thyroid acropachy with atrial fibrillation; insulin resistance with coronary artery disease and psoriasis or hidradenitis suppurativa. Skin and the Heart reviews the effects of genetic, autoimmune and endocrine diseases with connections between skin and heart. It is therefore a key reference for all practitioners and researchers working in both disciplines.
Download or read book Functional Ultrastructure written by Margit Pavelka and published by Springer Science & Business Media. This book was released on 2010-07-16 with total page 366 pages. Available in PDF, EPUB and Kindle. Book excerpt: The period between 1950 and 1980 were the golden unique insights into how pathological processes affect years of transmission electron microscopy and produced cell organization. a plethora of new information on the structure of cells This information is vital to current work in which that was coupled to and followed by biochemical and the emphasis is on integrating approaches from functional studies. TEM was king and each micrograph proteomics, molecular biology, genetics, genomics, of a new object produced new information that led to molecular imaging and physiology and pathology to novel insights on cell and tissue organization and their understand cell functions and derangements in disease. functions. The quality of data represented by the images In this current era, there is a growing tendency to of cell and tissues had been perfected to a very high level substitut e modern light microscopic techniques for by the great microscopists of that era including Palade, electron microscopy, because it is less technically Porter, Fawcett, Sjostrand, Rhodin and many others. At demanding and is more readily available to researchers- present, the images that we see in leading journals for This atlas reminds us that the information obtained by the most part do not reach the same technical level and electron microscopy is invaluable and has no substitute.
Download or read book Textbook of Clinical Pediatrics written by H. A. Harfi and published by Springer Science & Business Media. This book was released on 2012-01-10 with total page 4213 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new edition of this classic reference offers a problem-based approach to pediatric diseases. It encompasses almost all pediatric subspecialties and covers every pediatric disease and organ system. It includes case studies and over 750 lavish illustrations.
Download or read book Fabry Disease written by Deborah Elstein and published by Springer Science & Business Media. This book was released on 2010-08-02 with total page 525 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.
Download or read book Pathology of Heart Disease in the Fetus Infant and Child written by Michael T. Ashworth and published by Cambridge University Press. This book was released on 2019-08-22 with total page 361 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clearly presents the pathology of heart disease from fetus to adolescence, integrating histology and macroscopy with effects of treatment.
Download or read book Cellular Pathophysiology written by Mohammed M. Sayeed and published by CRC Press. This book was released on 1989-05-31 with total page 186 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent years, there has been increased research on cellular pathophysiology in animal and tissue models simulating human disease processes. The result of this research, which has been carried out primarily by physiologists, pharmacologists, biochemists, anatomists, pathologists, and clinicians, is now presented in this forum. A better understanding of how cellular, subcellular and molecular mechanisms initiate and progressively intensify organic/systemic disease processes is important in the development of rational therapies against these disease processes.
Download or read book Inborn Disorders of Sphingolipid Metabolism written by Stanley M. Aronson and published by Elsevier. This book was released on 2017-01-31 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inborn Disorders of Sphingolipid Metabolism is a collection of papers presented at the Third International Symposium on the Cerebral Sphingolipidoses and Allied Diseases, held at the Isaac Albert Research Institute of the Jewish Chronic Disease Hospital and at the State University of New York, Downstate Medical Center, on October 25 and 26, 1965. This book is organized into three parts encompassing 35 chapters. Part I deals first with electron microscopic, histochemical, and morphological investigations of certain sphingolipid metabolism disorders. This part also examines several case reports on the features and symptoms of spongy degeneration of the central nervous system, familial leukodystrophy, adrenal insufficiency, and cutaneous melanosis. Part II surveys the metabolism, biosynthesis, and structure of gangliosides and sialic acids. This part also considers the nature of the lipophilic portions of the brain gangliosides. This part particularly looks into the features and clinical manifestation of Tay-Sachs disease. The third part covers the genetic and clinical aspects of the Tay-Sachs disease. This part also evaluates the genetics of the Hurler-Hunter syndrome, Batten-Spielmeyer-Vogt disease, and lipogranulomatosis syndrome. This book is of value to biochemists, histochemists, geneticists, and researchers in the allied fields of lipidosis.
