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Fabry Disease
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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.
Book Synopsis Joe Learns about Fabry Disease by : Dawn Laney
Download or read book Joe Learns about Fabry Disease written by Dawn Laney and published by . This book was released on 2009-09-06 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Joe's story was developed to help explain Fabry disease and its treatment from the perspective of a ten year old.
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 Oxford Textbook of Clinical Nephrology by : Neil N. Turner
Download or read book Oxford Textbook of Clinical Nephrology written by Neil N. Turner and published by Oxford University Press. This book was released on 2015-10-29 with total page 3045 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence. This print edition of The Oxford Textbook of Clinical Nephrology comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.
Book Synopsis Uncommon Causes of Stroke by : Julien Bogousslavsky
Download or read book Uncommon Causes of Stroke written by Julien Bogousslavsky and published by Cambridge University Press. This book was released on 2001-05-24 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential resource for diagnosis and treatment of stroke patients outside the usual clinical categories.
Book Synopsis Perspiration Research by : H. Yokozeki
Download or read book Perspiration Research written by H. Yokozeki and published by Karger Medical and Scientific Publishers. This book was released on 2016-09-01 with total page 124 pages. Available in PDF, EPUB and Kindle. Book excerpt: Research into perspiration has developed dramatically during the last 15 years, continually improving our understanding of the pathogenesis of sweating disorders. It has become clear that, in addition to its temperature-regulating function, perspiration offers bactericidal protection as well. In this book, select authors further broaden our perspective on perspiration. Contributions cover a variety of new aspects, offering insight into the sweat glands' major role during the onset of disorders such as parapsoriasis, lichen planus, and lichen amyloidosis. They also highlight the importance of Malassezia - an allergen in sweat that exacerbates atopic dermatitis and cholinergic urticarial. Further roles of the sweat glands are discussed, including as storage of stem cells for replenishing epidermal cells in the case of thermal burns or as water retention sites for replenishing moisture in the stratum corneum. In addition, a novel analysis of the sweat glands' three-dimensional structures, using high-speed en-face optical coherence tomography (OCT), is introduced. Offering an in-depth overview of the latest knowledge in perspiration research, this book serves as an essential reference for all medical staff and researchers in the field.
Book Synopsis Metabolic Diseases by : E. Gilbert-Barness
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.
Book Synopsis Human Pathobiochemistry by : Toshitaka Oohashi
Download or read book Human Pathobiochemistry written by Toshitaka Oohashi and published by Springer. This book was released on 2019-03-13 with total page 349 pages. Available in PDF, EPUB and Kindle. Book excerpt: This textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension.
Book Synopsis Neurocutaneous Disorders by : Christos P. Panteliadis
Download or read book Neurocutaneous Disorders written by Christos P. Panteliadis and published by "Elsevier,Urban&FischerVerlag". This book was released on 2016-01-14 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurocutaneous syndromes and hemangiomas encompass a substantial proportion of congenital or hereditary disorders, and present themselves through variable clinical features. Though often complex and multi-systemic, these disorders can mostly be diagnosed by simple visual inspections and strong clinical expertise. The purpose of this book is to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis, and the diagnostic and therapeutic strategies associated with these challenging disorders. Strong emphasis throughout is given on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributions from colleagues, and from fully referenced information from thousands of articles, thus providing the reader with an outstanding up-to-date resource for the diagnosis and treatment of neurocutaneous disorders.
Book Synopsis Emergency Neuro-ophthalmology by : An-Guor Wang
Download or read book Emergency Neuro-ophthalmology written by An-Guor Wang and published by Springer. This book was released on 2018-06-22 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents 57 typical cases of neuro-ophthalmic diseases in the emergency room, which represent notoriously complex and difficult challenges for junior doctors. The physical manifestations of these neurologic disorders include visual loss, transient blurring, diplopia, headache, pupillary abnormality, and even cognition problems. Each case provides a wealth of information, including the case report, comments, diagnosis, management, prognosis and concise notes, as well as photographs and other images. As a case-based clinical reference work on neuro-ophthalmic diseases, the book offers readers essential, concretely applicable information and guidance.
Book Synopsis Molecular and Genetic Basis of Renal Disease by : David B. Mount
Download or read book Molecular and Genetic Basis of Renal Disease written by David B. Mount and published by Elsevier Health Sciences. This book was released on 2008-01-01 with total page 604 pages. Available in PDF, EPUB and Kindle. Book excerpt: This companion to Brenner and Rector's The Kidney offers a state-of-the-art summary of the most recent advances in renal genetics. Molecular and Genetic Basis for Renal Disease provides the nephrologist with a comprehensive look at modern investigative tools in nephrology research today, and reviews the molecular pathophysiology of the nephron as well as the most common genetic and acquired renal diseases. A comprehensive clinical review of Medelian renal disease is also be included. Detailed review of the molecular anatomy and pathophysiology of the nephron that provides relevant basic science to consider when diagnosing and managing patients with these disorders.
Book Synopsis Skin and the Heart by : Carmen Salavastru
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.
Book Synopsis Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by : Roger N. Rosenberg
Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1464 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
Book Synopsis Drug Metabolism, Pharmacokinetics and Bioanalysis by : Hye Suk Lee
Download or read book Drug Metabolism, Pharmacokinetics and Bioanalysis written by Hye Suk Lee and published by MDPI. This book was released on 2019-06-12 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: Drug metabolism/pharmacokinetics and drug interaction studies have been extensively carried out in order to secure the druggability and safety of new chemical entities throughout the development of new drugs. Recently, drug metabolism and transport by phase II drug metabolizing enzymes and drug transporters, respectively, as well as phase I drug metabolizing enzymes, have been studied. A combination of biochemical advances in the function and regulation of drug metabolizing enzymes and automated analytical technologies are revolutionizing drug metabolism research. There are also potential drug–drug interactions with co-administered drugs due to inhibition and/or induction of drug metabolic enzymes and drug transporters. In addition, drug interaction studies have been actively performed to develop substrate cocktails that do not interfere with each other and a simultaneous analytical method of substrate drugs and their metabolites using a tandem mass spectrometer. This Special Issue has the aim of highlighting current progress in drug metabolism/pharmacokinetics, drug interactions, and bioanalysis.
Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual
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 Vulvar Disease written by Jacob Bornstein and published by Springer. This book was released on 2019-04-13 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book offers comprehensive information on modern approaches to vulvar lesions, taking into account recent management recommendations and employing the consensus terminology of the International Society for the Study of Vulvovaginal Disease (ISSVD). Further, it breaks with past misconceptions and myths, and explains in detail the modern approach. The aim is to help clinicians perform the differential diagnosis of vulvar conditions and implement the new recommended treatments. The core chapters of the book are arranged in accordance with lesion presentation: red lesions, white lesions, patches and plaques, papules and nodules, erosions and ulcers, blisters, etc. For each lesion, the multidisciplinary management is fully explained, including clarifications of the role of gynecologists, dermatologists, physical therapists, pain specialists, sex therapists, and others. Clinical case presentations and numerous illustrations of treatment procedures are included, supplemented by informative online videos. A separate chapter is devoted to vulvar pain, which is increasingly becoming recognized as a growing problem. Here, again the past approaches are replaced with new paradigms. All of the authors are acknowledged experts in the field and the editor is a past president of the ISSVD. The book will be of value for all vulvar specialists and a wide range of other clinicians.
Book Synopsis Biopsy Diagnosis of Peripheral Neuropathy by : Juan M Bilbao
Download or read book Biopsy Diagnosis of Peripheral Neuropathy written by Juan M Bilbao and published by Springer. This book was released on 2014-11-05 with total page 486 pages. Available in PDF, EPUB and Kindle. Book excerpt: Peripheral nerve analysis is a challenging task for pathologists, given the advent of new diagnoses and techniques of analysis and the impact of molecular genetics. This book presents a simple, logical method for constructing a differential diagnosis based on pathology and clinical presentation. It also provides advice on the selection of ancillary molecular, immunohistochemical and genetic techniques to establish a definitive diagnosis. Clear, authoritative guidance is offered on diagnosis of the full range of neuropathies with the aid of a wealth of high-quality color photomicrographs and electron micrographs. The pathologist will benefit greatly from the identification of a variety of artifacts and normal structures occasionally encountered in nerve biopsies that need to be distinguished from specific pathologic alterations. This user-friendly, practical text will be an invaluable aid in achieving the most specific diagnosis possible.
