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Epigenetics and Rare Diseases
Epigenetics, as well as all -omics fields of study, such as transcriptomics, proteomics and metabolomics, have caused a revolution in all branches of medicine in recent years. This book provides a detailed evidence-based overview of the latest developments in how the recent acquisitions on the human genome and epigenome is relevant, and how it impacts our understanding of rare diseases of the immune system. The first part features the evolving thread from genetics to epigenetics, their molecular basis, endocrine disruptors, as well as chapters devoted to the fetal programming hypothesis and functional basis of neurodevelopment, and the placenta as originating element. Successive chapters inc...
Connective Tissue Disease
This volume aims at delivering the state-of-the-art scientific and clinical know-how for the management of patients with Connective Tissue Diseases (CTDs). With contributions from leading specialists from different disciplines, it presents the latest research findings on many aspects of the diseases in a clear, comprehensive way, and describes the most recent trends in treatment, such as the “treat to target” approach. Both basic science and clinical medicine are addressed, with emphasis on the most promising clinical and laboratory-based studies. The coverage is comprehensive in scope, and includes epidemiology, pathogenesis, autoantibodies and biomarkers, disease manifestations, involvement of different organs or systems, the relationships with other disorders, and biological therapy. Readers will find this second volume to be an excellent source of information on the current understanding of CTDs, and clinical approach to CTD, clearly conveying the progress made in recent years. Connective Tissue Disease – A Comprehensive Guide Vol.2 will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with these complex diseases.
Severe Combined Immunodeficiency
This handy volume, that can also serve as an integration to the preceding work Cellular Primary Immunodeficiencies by the same editor, presents detailed state of the art knowledge on Severe Combined Immunodeficiency (SCID) with extensive coverage of both basic science discoveries and the latest clinical advances in the field. The book is structured according to the most recent classifications including update on the immunological synapse, as well as on bioinformatics in primary immunodeficiencies leading the reader towards the computational immunology era. Readers will also find in-depth descriptions of SCID genes and related clinical application, and aspects such as differential diagnosis, clinical management, and the role of vaccines are also addressed. The authors are recognized experts world-wide and have crafted their chapters to turn Severe Combined Immunodeficiency in a valued, compact update for immunologists, paediatricians, internists, rheumatologists, and infectious diseases specialists, that MDs and PhD students will find informative as well.
Cellular Primary Immunodeficiencies
This volume of the series Rare Diseases of the Immune System presents detailed state of the art knowledge on the cellular primary immunodeficiencies; it includes extensive coverage of both basic science discoveries and the latest clinical advances in the field. The book is structured in accordance with the most recent classification of PIDs and also covers updates on the T cell immunological synapse. Readers will find comprehensive, in-depth descriptions of novel cellular PID genes and related clinical applications, mucosal T cells, and the various clinical phenotypes of cellular PIDs. Cellular Primary Immunodeficiencies will be of high value for immunologists, pediatricians, rheumatologists, oncologists, internists, and infectious disease specialists and will also be informative for MD, Master and PhD students.
Large and Medium Size Vessel and Single Organ Vasculitis
In this book, detailed information on the nosology, pathology, pathogenesis, clinical presentation, diagnosis and treatment of large- and medium-sized vessel and single-organ vasculitis is provided and critically discussed by the most expert physicians and researchers in the field. Among the conditions considered are giant cell arteritis, Takayasu arteritis, polyarteritis nodosa, primary central nervous system vasculitis, isolated aortitis, isolated gastrointestinal vasculitis, cutaneous vasculitis and isolated genitourinary vasculitis. The role of histopathology in the diagnosis and prognosis of these vasculitis is evaluated, along with the part played by imaging studies in diagnosing and monitoring these diseases, while indications and limitations of the available imaging modalities are discussed as well. The expanding role of biological agents for the treatment of the large vessel vasculitis is addressed, as well as the current approaches to these diseases. This book will be a valuable companion in decision-making for medical practitioners, internists, specialists, researchers and postgraduate students interested in the intriguing fields of vasculitis and rare diseases.
Periodic and Non-Periodic Fevers
This book, written by very well-known opinion leaders in the field, covers all aspects of periodic and non –periodic fevers, and related disorders. The expression refers to several different auto-inflammatory diseases, showing similar symptoms–the primary symptom being a recurrent fever for an infectious cause cannot be found. The opening chapters give some historical hints, explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies and guides the reader through classification and nomenclature. A large part of the book is then devoted to a detailed description of the specific related diseases and their clinical presentatio...
Rarer Arthropathies
This volume on Rarer Arthropathies, part of the series "Rare Diseases of the Immune System" aims to fill a gap in the literature by informing and updating clinicians on the unusual and uncommon forms of arthritis and related musculoskeletal conditions. It will be a valuable go-to resource for clinicians to support them in differential diagnosis, in particular when facing unusual presentations. Nineteen chapters written by experts have covered a wide range of these conditions, providing first rate information on topics yet lacking adequate coverage; from Palindromic Rheumatism to SAPHO Syndrome and other chronic immune-mediated conditions, while also including arthritis in leprosy, tuberculos...
