Trex1 And Samhd1 And Aicardi Gouti Res Syndrome
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Pediatric Neurology Part Iii
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Author : Yanick J. Crow
language : en
Publisher: Elsevier Inc. Chapters
Release Date : 2013-04-24
Pediatric Neurology Part Iii written by Yanick J. Crow and has been published by Elsevier Inc. Chapters this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-04-24 with Medical categories.
Aicardi-Goutières syndrome (AGS) is a genetically determined encephalopathy demonstrating phenotypic overlap both with the sequelae of congenital infection and with systemic lupus erythematosus (SLE). Recent molecular advances have revealed that AGS can be caused by mutations in any one of five genes, most commonly on a recessive basis but occasionally as a dominant trait. Like AGS, SLE is associated with a perturbation of type I interferon metabolism. Interestingly then, heterozygous mutations in the AGS1 gene TREX1, and the AGS5 gene SAMHD1, underlie a cutaneous subtype of SLE called familial chilblain lupus, and mutations in TREX1 represent the single most common cause of monogenic SLE identified to date. Evidence is emerging to show that the nucleases defective in AGS are involved in removing endogenously produced nucleic acid species, and that a failure of this removal results in activation of the immune system. This hypothesis explains the phenotypic overlap of AGS with congenital infection and some aspects of SLE, where an equivalent type I interferon-mediated innate immune response is triggered by viral and self nucleic acids respectively. These studies beg urgent questions about the development and use of immunosuppressive therapies in AGS and related phenotypes.
Encyclopedia Of Medical Immunology
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Author : Ian R. Mackay
language : en
Publisher:
Release Date : 2019
Encyclopedia Of Medical Immunology written by Ian R. Mackay and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019 with Clinical immunology categories.
Offering a broad appeal to microbiologists, immunologists, and infectious disease specialists, this four volume encyclopedia covers all autoimmune, tropical, and infectious diseases. Emphasis will also be placed on genetics, physiology, metabolism, pathogenesis and applied microbiology. Under the leadership of some of the most world renowned names in the field, the encyclopedia will bring together an outstanding collection of contributions by top scientists in a variety of fields. Volumes 1-3: Diseases will be divided by the 11 main sections of the body, namely Integumentary, Skeletal, Respiratory, Digestive, Urinary, and Reproductive. For some of the autoimmune disease, more then one system will be involved but the delineation serves to broadly break down the diseases into systems. Volume 4 will cover the vaccines for said diseases and future prospects will be offered by leaders in industry and academia. Volume 4 will also be broken down into all the body systems, as in the other two volumes. For each vaccine, for each disease, and in each system the following will be included: • A list of the vaccines currently available along with a list of the companies that manufacture them • Molecular Immunology of the Vaccine • Type of Immunity involved in protection • Mode of Vaccination for each vaccine; repeated boosters and length of immunological memory • Commercial production of vaccines • Storage of vaccines • Standardization and Control of Vaccines • WHO programs and World-Wide Disease Eradication Programs based upon Vaccines.
Movement Disorders In Childhood
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Author : Harvey S. Singer
language : en
Publisher: Academic Press
Release Date : 2015-10-27
Movement Disorders In Childhood written by Harvey S. Singer and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-10-27 with Medical categories.
Movement Disorders in Childhood, Second Edition, provides the most up-to-date information on the diseases and disorders that affect motor control, an important area of specialization within child neurology. Over the past several decades, advances in genetics, neuroimaging, neurophysiology, and other areas of neuroscience have provided new understanding of the underlying etiologies and mechanisms of these conditions as well as new opportunities for more accurate diagnosis and effective treatment. This new edition builds upon the success of the first edition, with comprehensive scientific and clinical updates of all chapters. In addition, there are new chapters on hereditary spastic paraplegia, quantitative motor assessments, autoimmune disorders, and movement disorders in the developmental neuropsychiatric disorders ADHD, OCD, and autism. Additional materials are provided on the latest in drug treatments, computer based strategies for genetic diagnosis, and helpful videos for phenomenology. Provides the only current reference specifically focused on childhood movement disorders Investigates the underlying etiologies and mechanisms of these disorders Completely revised and updated with new materials and a more disease-oriented approach New coverage of genetics and movement disorders, immunology and movement disorders, and an introduction to the latest quantitative analysis New videos of instructive and unusual childhood movement disorders 2016 BMA Medical Book Awards Highly Commended in Neurology
Syndromes Rapid Recognition And Perioperative Implications
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Author : Bruno Bissonnette
language : en
Publisher: McGraw-Hill Education / Medical
Release Date : 2006-08-10
Syndromes Rapid Recognition And Perioperative Implications written by Bruno Bissonnette and has been published by McGraw-Hill Education / Medical this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-08-10 with Medical categories.
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Enzymatic And Chemical Synthesis Of Nucleic Acid Derivatives
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Author : Jesús Fernández Lucas
language : en
Publisher: John Wiley & Sons
Release Date : 2019-04-29
Enzymatic And Chemical Synthesis Of Nucleic Acid Derivatives written by Jesús Fernández Lucas and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-04-29 with Science categories.
A review of innovative tools for creative nucleic acid chemists that open the door to novel probes and therapeutic agents Nucleic acids continue to gain importance as novel diagnostic and therapeutic agents. With contributions from noted scientists and scholars, Enzymatic and Chemical Synthesis of Nucleic Acid Derivatives is a practical reference that includes a wide range of approaches for the synthesis of designer nucleic acids and their derivatives. The book covers enzymatic (including chemo-enzymatic) methods, with a focus on the synthesis and incorporation of modified nucleosides. The authors also offer a review of innovative approaches for the non-enzymatic chemical synthesis of nucleic acids and their analogs and derivatives, highlighting especially challenging species. The book offers a concise review of the methods that prepare novel and heavily modified polynucleotides in sufficient amount and purity for most clinical and research applications. This important book: -Presents a timely and topical guide to the synthesis of designer nucleic acids and their derivatives -Addresses the growing market for nucleotide-derived pharmaceuticals used as anti-infectives and chemotherapeutic agents, as well as fungicides and other agrochemicals. -Covers novel methods and the most recent trends in the field -Contains contributions from an international panel of noted scientistics Written for biochemists, medicinal chemists, natural products chemists, organic chemists, and biotechnologists, Enzymatic and Chemical Synthesis of Nucleic Acid Derivatives is a practice-oriented guide that reviews innovative methods for the enzymatic as well as non-enzymatic synthesis of nucleic acid species.
Ophthalmic Genetic Diseases
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Author : Natario L. Couser
language : en
Publisher:
Release Date : 2018-09-24
Ophthalmic Genetic Diseases written by Natario L. Couser and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-09-24 with Medical categories.
This book provides current, clinically focused information on more than 400 genetic eye diseases.
Textbook Of Autoinflammation
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Author : Philip J. Hashkes
language : en
Publisher: Springer
Release Date : 2019-02-13
Textbook Of Autoinflammation written by Philip J. Hashkes and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-02-13 with Medical categories.
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.
Progressive Brain Disorders In Childhood
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Author : Juan M. Pascual
language : en
Publisher: Cambridge University Press
Release Date : 2017-04-20
Progressive Brain Disorders In Childhood written by Juan M. Pascual and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-04-20 with Medical categories.
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Dubois Lupus Erythematosus And Related Syndromes E Book
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Author : Daniel J. Wallace
language : en
Publisher: Elsevier Health Sciences
Release Date : 2023-12-04
Dubois Lupus Erythematosus And Related Syndromes E Book written by Daniel J. Wallace and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-12-04 with Medical categories.
For more than 50 years, Dubois’ Lupus Erythematosus and Related Syndromes has been recognized internationally as the go-to clinical reference on lupus and other connective tissue diseases. From basic scientific principles to practical points of clinical management, the 10th edition provides extensive, authoritative coverage of systemic lupus erythematosus (SLE) and its related diseases in a logical, clearly written, user-friendly manner. It’s an ideal resource for rheumatologists and internal medicine practitioners who need a comprehensive clinical reference on all aspects of SLE, connective tissue diseases, and the antiphospholipid syndromes. Provides complete clinical coverage of every aspect of cutaneous and systemic lupus erythematosus, including definitions, pathogenesis, autoantibodies, clinical and laboratory features, management, prognosis, and patient education. Includes significant new content throughout: a new chapter on the endocrine system and hormones; newly distinct chapters on the heart and lung; new content on social disparities in lupus, clinical presentation of nephritis, and pulmonary hypertension; a new concluding chapter on future directions in the field; new basic science coverage of the microbiome, autoinflammatory, and monogenic lupus; and new coverage of diversity, inclusion, gender, compliance, and adherence. Offers a fresh perspective from two new associate editors and many new authors with representation from 30 countries. Contains an up-to-date overview of significant advances in cellular, molecular, and genetic technologies, including genetic advancements in identifying at-risk patients. Discusses the clinical management of related disorders such as Sjogren’s syndrome, scleroderma, polymyositis, and antiphospholipid syndrome (APS). Presents the knowledge and expertise of international contributors to provide new global perspectives on manifestations, diagnosis, and treatment. Features a vibrant, full-color format, with graphs, algorithms, differential diagnosis comparisons, new and improved figures, and schematic diagrams throughout. Additional digital ancillary content may publish up to 6 weeks following the publication date.
Retrotransposons And Human Disease L1 Retrotransposons As A Source Of Genetic Diversity
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Author : Abram Gabriel
language : en
Publisher: World Scientific
Release Date : 2022-08-05
Retrotransposons And Human Disease L1 Retrotransposons As A Source Of Genetic Diversity written by Abram Gabriel and has been published by World Scientific this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-08-05 with Science categories.
Thirty years ago we knew that retrotransposons made up at least half of our genomes, but little about their role in biology. The human genome has since been sequenced and the position of all retrotransposons in the reference sequence has been determined. However, as of today, the function of retrotransposons still remains elusive. We know much more about the diseases associated with their movement and the host defenses we all have against them.This volume explores an array of diseases in humans associated with L1 retrotransposon movement within the human genome, including some cancers such as colon cancer and neuropsychiatric disorders such as schizophrenia.The chapters explore the diversity of retrotransposons, their different biological mechanisms, the role of L1 in their movement, and their contribution to human diseases. This book posits that somatic events caused by retrotransposons have implications for mosaicism and are often associated with cancers. Germline events are common, occur quite early in development, and are a cause of single gene diseases. All in all, the authors implicate L1 retrotransposons as major sources of human diversity and advocate for their continued study.