Search

This book is about the'Mechanism and Genetic susceptibility of Neurological disorders. It is a comprehensive exploration, penned by esteemed authors, and offers a profound understanding of these enigmatic ailments, their progression, and the strategic approaches employed to mitigate their impact. In this book, readers will uncover a wealth of knowledge surrounding the mechanistic intricacies that underlie various neurological disorders. Through meticulous research and insightful analysis, the authors elucidate the inner workings of these conditions, shedding light on the mechanisms responsible for their onset and progression. The central themes of this book are the recognition of the genetic landscape governing neurological disorders. It emphasizes the role played by a diverse array of genes in the development and progression of these conditions, highlighting the multifaceted genetic susceptibility that underlies their manifestation. ​

••Selected for Doody's Core Titles® 2024 in Allergy/Clinical Immunology•• Allergic and Immunologic Diseases: A Practical Guide to the Evaluation, Diagnosis and Management of Allergic and Immunologic Diseases is a valuable resource for researchers and others involved in the day-to-day practice of allergy and immunology, with specific information, protocols and algorithms to guide their thinking. The book provides practical information and an explanation of why and how we do things, while also addressing the limitations of testing and treatment. Other sections focus on scientific based practices and the known pathophysiology of allergic and immunologic diseases, along with mechanisms of action in various treatment modalities. This book is unique in that it explains the rationale behind everything we do in allergy and immunology, hence it offers readers specific information on procedures and how to order tests and treat allergic and immunologic diseases. - Contains useful information on allergic and immunologic diseases, from why we do things the way we do, to methodologies, interpretation of the results and management of diseases - Provides information that can be immediately downloadable for any specific procedure or treatment algorithm for immediate use - Evaluates scientific merit and evidence or lack thereof

Stiehm's Immune Deficiencies: Inborn Errors in Immunity, Second Edition, is ideal for physicians and other caregivers who specialize in immunology, allergies, infectious diseases and pulmonary medicine. It provides a validated source of information for care delivery to patients, covering approaches to diagnosis that use both new genetic information and emphasize screening strategies. Management has changed dramatically over the past five years, so approaches to infection and autoimmunity are emphasized in an effort to improve outcomes and disseminate new information on the uses of targeted therapy. - Covers immune deficiencies that are presented in a practical way, providing helpful information for active clinicians - Fills an increasingly deep gap in the information available to clinicians - Presents both clinical management and scientific advances for immune deficiencies - Provides a primary resource for physicians in the field of immunodeficiencies - Includes website access to a range of videos relevant to the topics discussed

This book, the first complete textbook on this novel field in Medicine, comprehensively covers the clinical presentation, pathogenesis, genetics, and latest management strategies for autoinflammatory disorders as well as the basic science of autoinflammation. Relevant concepts such as how translational science of genetics and immunology relates to the innate immune system and autoinflammation are covered. Descriptions of the monogenic and polygenic/complex diseases that fall under the umbrella of autoinflammatory diseases are provided. Further topics covered include the latest clinical and genetic diagnostic approaches, concepts on the relationship between autoinflammation and autoimmunity/immunodeficiency, the role of autoinflammation in cancer, treatments and management strategies for these diseases, and potential areas of future development. The Textbook of Autoinflammation systematically describes and reviews diagnostic and treatment options for autoinflammatory disorders as well as all aspects of the concept of autoinflammation, and represents a valuable resource for professionals in a variety of disciplines who encounter these patients or who study autoinflammation.

About 7 million people worldwide are suffering from various inherited neuromuscular diseases. Gene therapy brings the hope of treating these diseases at their genetic roots. Muscle Gene Therapy is the only book dedicated to this topic. The first edition was published in 2010 when the field was just about to enter its prime time. The progress made since then has been unprecedented. The number of diseases that have been targeted by gene therapy has increased tremendously. The gene therapy toolbox is expanded greatly with many creative novel strategies (such as genome editing and therapy with disease-modifying genes). Most importantly, clinical benefits have begun to emerge in human patients. To reflect rapid advances in the field, we have compiled the second edition of Muscle Gene Therapy with contributions from experts that have conducted gene therapy studies either in animal models and/or in human patients. The new edition offers a much needed, up-to-date overview and perspective on the foundation and current status of neuromuscular disease gene therapy. It provides a framework to the development and regulatory approval of muscle gene therapy drugs in the upcoming years. This book is a must-have for anyone who is interested in neuromuscular disease gene therapy including those in the research arena (established investigators and trainees in the fields of clinical practice, veterinary medicine and basic biomedical sciences), funding and regulatory agencies, and patient community.

This book provides an overview of auto-inflammatory syndromes, covering the underlying immune mechanisms that lead to their development, specific disease presentations, and clinical treatment guidelines. The book is divided into two sections, adult and pediatric, with chapters focusing on individuals diseases such as systemic arthritis, hyper-IgD, pap syndrome, idiopathic recurrent pericarditis, and familial Mediterranean fever. Chapters incorporate the most recent advances in disease pathophysiology and examine the underlying inductive and effector mechanisms and therapies that relate to each auto-inflammatory disorder at the genetic, molecular, cellular, and epidemiologic levels. The book also discusses the research behind auto-inflammatory disorders to offer detailed clinical guidelines regarding diagnostic techniques, treatment plans, and advice on how to best transition pediatric patients into adult treatment. This is an invaluable reference on auto-inflammatory syndromes for clinicians and researchers in pediatric and adult rheumatology and immunology.

Multiple sclerosis (MS) is the most common disabling neurological disease of young adults. More than 2.3 million people are affected by MS worldwide. Symptoms can vary widely, depending on the localization and amount of the damage induced by combined inflammatory, demyelinating, and neurodegenerative processes. Although a cure for MS does not currently exist, therapies can help treat MS attacks, attenuate disease activity, reduce progress of the disease, and manage symptoms. Translational Neuroimmunology in Multiple Sclerosis provides an overview of recent findings and knowledge of the neuroimmunology of multiple sclerosis, from experimental models and the human disease to the translation of this research to immunotherapeutic strategies. Chapters describe genetic and environmental factors underlying the disease pathogenesis of MS as a basis for development of immunotherapies, immunological markers of disease activity, pharmacogenetics, and responses to therapy. Immunomodulatory therapies currently in practice and future therapeutic strategies on the horizon—such as neuroprotective strategies, stem cells, and repair promotion—are discussed. Contributed by renowned leaders in the field, this cross-disciplinary volume is a great resource for basic scientists and clinical practitioners in neuroscience, neurology, immunology, pharmacology, and in-drug development. - Provides an overview of recent findings and knowledge of the neuroimmunology of multiple sclerosis and the translation of this research to immunotherapy treatment - Edited by renowned leaders in the field of neuroimmunology and multiple sclerosis - Contains the latest resource material for basic and clinical scientists and practitioners in neuroscience, neurology, immunology, and pharmacology - 2017 BMA Medical Book Awards Highly Commended in Neurology

The number of diagnosed cases of primary immunodeficiency diseases (PIDs) – a group of inborn disorders of the immune system – is growing rapidly, but misdiagnosis or late diagnosis still occurs in a significant number of patients, with serious consequences. This is the second edition of a practical reference textbook on PIDs that has been widely welcomed by scientists and clinicians from around the world. The new edition has been extensively revised to reflect advances in knowledge and includes various PIDs not previously covered. For each disease, information is provided on definition, etiology, clinical manifestations, diagnosis, and management. This book will represent an ideal resource for specialists when engaging in diagnosis, clinical decision-making, and treatment planning. It will also prove invaluable for doctors in training and other physicians and nurses who wish to learn more about PIDs.

This book, written by very well known opinion leaders in the field, covers all aspects of familial Mediterranean fever, the most common monogenic autoinflammatory disease. The opening chapters explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies. A large part of the book is then devoted to a detailed description of the typical and atypical clinical presentations, the disease course, and potential complications in both pediatric and adult patients. Guidance is provided on the measurement of disease severity and the management of patients in daily practice. The advice regarding treatment is based on the best currently available evidence and attention is also paid to important emerging treatments.The book is part of Springer's series Rare Diseases of the Immune System, which presents recently acquired knowledge on pathogenesis, diagnosis, and therapy with the aim of promoting a more holistic approach to these conditions. Monogenic autoinflammatory diseases are hereditary disorders that are caused by single-gene defects in innate immune regulatory pathways and are characterized by a clinical and biological inflammatory syndrome in which there is limited, if any, evidence of autoimmunity. Familial Mediterranean fever itself is due to a mutation in the MEFV gene, which codes for the protein pyrin; it is characterized by periodic fever and episodes of painful inflammation in the abdomen, chest, and joints. Familial Mediterranean Fever will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with the disease.

'There is a need for a paradigm shift in our thinking about the pathogenesis of multiple sclerosis.'Challenging Charcot's hypothesis that inflammatory response is the primary contributor to demyelination, Dr. Rodriguez and colleagues take a fresh, bold look at the causes and possible treatments of MS. Assuming oligodendrocyte injury as a prerequisite to MS, the authors explore viruses, toxins and genetic defects as possible culprits. They present novel methods to interrupt and reverse demyelination. This book examines the correlation between axonal loss and clinical deficits, including the implied role of the CD8+ T cell and perforin. It assesses proteases, specifically, kallikrein 6, which are strongly associated with active demyelination. By directing natural autoantibodies against oligodendrocytes that demonstrate remyelination in animal models, the authors envision clinical trials for remyelination enhancement. As internationally recognized specialists in a wide range of MS disciplines, the authors explore genetic tools for identifying patients who are most likely to experience spontaneous remyelination. Epidemiology studies offer additional avenues of treatment. Examples include uric acid, statin drugs, estrogen and progesterone. MS affects nearly 400,000 people in the United States, many of whom are between18 and 40 years of age. With their novel, multifaceted approach to basic science—and their applications in understanding cause and treatment—the authors offer help to clinicians and hope to patients.

Primary immunodeficiency diseases (PID) are a group of disorders involving defects in one or more components of the immune system, and are characterized by an increased incidence of infections, autoimmunity, and malignancies. Although PID seem to be rare, the number of patients diagnosed has increased in recent years, and more than 150 different forms of PID have been identified. Nevertheless, because of inadequate medical awareness, a significant number of patients with PID are either not recognized as having a PID or are not diagnosed as early as they should be. Such delays lead to a substantial increase in morbidity and mortality among affected individuals.Our understanding of PID is improving rapidly, which will hopefully lead to more accurate diagnosis and efficient disease management. This book contains the most recent advances in the field, as well as a concise and structured review of previously identified PID. Although the book's primary focus is on practical diagnosis and management, the pathophysiology of PID is also discussed.This book is a comprehensive yet manageable resource for physicians and nurses wishing to learn more about PID, as well as a useful tool for both doctors-in-training and specialists in clinical decision-making and treatment planning.

The second edition of Primary Immunodeficiency Diseases presents discussions of gene identification, mutation detection, and clinical and research applications for over 100 genetic immune disorders--disorders featuring an increased susceptibility to infections and, in certain conditions, an icreased rate of malignancies and autoimmune disorders. Since the publication of the first edition, a flurry of new disease entities has been defined and new treatment regimens have been introduced, the most spectacular being successful treatment by gene therapy for two genotypes of combined immunodeficiency. The first edition marked a historic turning point in the field of immunodeficiencies, demonstrating that many of the disorders of the immune systam could be understood at a molecular level. This new edition can proudly document the tremendous pace of progress in dissecting the complex immunologic networks responsible for protecting individuals from these disorders.

The immune system has been known to be capable of distinguishing self from non-self since the pioneering work of Paul Erhlich more than a century ago. Originally described in experiments studying blood transfusion comp- ibility, the principle of “horror autotoxicus” is still valid, although today the phenomenon is usually described in terms of tolerance or ignorance. A great deal has been learned about the various processes preventing self-reactivity normally. These include processes that operate during immune cell ontogeny and subsequently on reactivity of mature lymphocytes in the periphery. They encompass mechanisms that are intrinsic to potentially reactive lymphocytes and can result in central or peripheral deletion or the alteration of functional potential. In addition, there are in?uences that are extrinsic to potentially auto-reactive lymphocytes, including the function of regulatory cells, d- ferentiation state of antigen-presenting cells, availability of self-antigen, the cytokine and chemokine milieu, as well as the traf?cking patterns involved in generating productive immune interactions. It is clear that the immune system devotes a considerable effort to the avoidance of the development of potentially pathogenic self-reactivity. Despite this, the development of self-reactivity is relatively common. - though the development of autoimmune disease is less frequent, autoimmune diseases, such as rheumatoid arthritis, multiple sclerosis, systemic lupus e- thematosus, psoriasis, thyroiditis, and myasthenia gravis, are all too common, and can cause considerable morbidity and even mortality.