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 Enzyme Replacement Therapies for Lysosomal Storage Diseases written by and published by . This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Mucopolysaccharidoses written by and published by . This book was released on 2003 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
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 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 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 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 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 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 Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
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 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 Feline Diagnostic Imaging written by Merrilee Holland and published by John Wiley & Sons. This book was released on 2020-04-21 with total page 648 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book offers a comprehensive resource for imaging the feline patient, with an emphasis on the unique considerations of imaging cats. It focuses on radiology and ultrasound, with some coverage of advanced imaging such as computed tomography and magnetic resonance imaging. Incorporating more than 1750 high-quality images, it is an invaluable reference for any veterinary practitioner with a significant feline caseload. Feline Diagnostic Imaging begins with information on the radiographic evaluation of the thorax, abdomen, and musculoskeletal structures, including normal anatomy and pathology, followed by a review of common echocardiographic and abdominal ultrasound findings and abnormalities. Advanced imaging of the skull using computed tomography and magnetic resonance imaging cases of brain and spinal disease are also included. The book: Provides imaging information specifically tailored to the particular needs of cats Emphasizes the modalities most commonly used in general practice, with some discussion of advanced imaging Gives a complete overview of diagnostic imaging for the feline patients Includes tips and tricks for the unique considerations of working with cats Presents essential information for any practitioner treating feline patients Offering a feline focus not found in other imaging books, Feline Diagnostic Imaging is an essential purchase for veterinarians wishing to improve their diagnostic imaging skills in cats. It’s also an excellent guide for veterinary radiologists, and veterinary students and residents.
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 544 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 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.
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
