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Muscular dystrophy : causes and management [E-Book]

Contributor(s): Series: Neurodegenerative diseases--laboratory and clinical research | Muscular system--anatomy, functions, and injuries seriesPublisher: New York : Nova Biomedical, [2013]Description: 1 online resourceContent type:
  • text
Media type:
  • computer
Carrier type:
  • online resource
ISBN:
  • 9781626185098
  • 1626185093
Subject(s): Online resources:
Contents:
""MUSCULAR DYSTROPHY. CAUSES AND MANAGEMENT""; ""MUSCULAR DYSTROPHY. CAUSES AND MANAGEMENT""; ""Library of Congress Cataloging-in-Publication Data""; ""Contents""; ""Preface""; ""Section 1. Genetic, Environmental Interactions and Evaluation""; ""Chapter 1: Muscular Dystrophy: The Present and Future""; ""Abstract""; ""The Present""; ""The Future""; ""Genetic and Environmental Interaction""; ""References""; ""Chapter 2: History and Pathogenesis of Muscular Dystrophy""; ""Introduction""; ""Muscular Dystrophy: Recognition of Different Forms""; ""Recognition of Severe X-Linked Muscular Dystrophy""
""The Nosographic Era: The Recognition of Limb-Girdle Dystrophies""""The Recognition of Facio-Scapulo Humeral Dystrophy (FSHD)""; ""Therapeutical Trials in DMD""; ""The Molecular Era""; ""References""; ""Chapter 3: Biomarkers and Genetic Risks""; ""Abstract""; ""Defining Biomarkers""; ""Biomarkers in Muscular Dystrophies""; ""Emerging Biomarkers""; ""Critical Parameters for the Choice of Biomarker Assay""; ""Conclusion""; ""References""; ""Chapter 4: Inflammation in Duchenne Muscular Dystrophy""; ""Introduction""; ""General Aspects of Dystrophic Muscle and the Immune Response""
""Hypothesis on a Putative Link between Functional Concepts of the Immune Response and Development of Fibrosis in DMD""""A View on Pathogenesis in DMD with Emphasis on Fibrosis and Inflammation""; ""Modeling DMD, Mediators and Drivers of the Immune Process �a�? What Can We Learn from the Mouse?""; ""Therapy Targeting Immune Processes""; ""Conclusion""; ""References""; ""Chapter 5: MRI Imaging in Muscular Dystrophies""; ""Abstract""; ""Introduction""; ""MRI Scoring and Interpretation""; ""Duchenne Muscular Dystrophy (DMD)""; ""Limb Girdle Muscular Dystrophies""; ""LGMD2A (Calpainopathy)""
""LGMD 2B (Dysferlinopathy)""""LGMD2I (FKRP Defect)""; ""Myotonic Dystrophy Type 1 (DM1)""; ""PROMM or Myotonic Dystrophy Type 2 (DM2)""; ""Congenital Muscular Dystrophies (CMD)""; ""Hyaline Body Myopathy (Scapulo-Peroneal Syndrome)""; ""Emery�a�?Dreifuss Muscular Dystrophy""; ""Bethlem Myopathy""; ""Future Perspectives""; ""References""; ""Chapter 6: Clinical Scales for the Evaluation of Neuromuscular Patients""; ""Abstract""; ""Motor Function""; ""Quality of Life""; ""References""; ""Section 2. Specific Dystrophies""; ""Chapter 7: Dystrophinopathies""; ""Abstract""
""Introduction: An Overview of Dystrophinopathies""""Clinical Description of DMD""; ""Clinical Description of BMD""; ""Clinical Description of Carriers""; ""Molecular Bases of Dystrophinopathies: The DMD Gene""; ""Molecular Bases of Dystrophinopathy: The Dystrophin Protein""; ""Molecular Bases of Dystrophinopathy: Pathogenesis""; ""Diagnosis of Dystrophinopathy""; ""Genetic Counseling and Prevention""; ""Treatment""; ""References""; ""Chapter 8: Scapulo-peroneal Syndromes""; ""Introduction""; ""Case Presentation""; ""Historical Perspective""; ""1. Scapuloperoneal Muscular Dystrophy (SPMD)""
Summary: Muscular Dystrophies include a heterogeneous series of diseases that range from childhood to adult onset cases, of difficult diagnosis and treatment. This book presents the state of the art in muscular dystrophies, after the molecular revolution. In the field of patients' diagnosis, several advances have been done by recognizing new entities. New techniques such as biochemical, molecular advancements, and the use of muscle MRI are collected that allow rapid diagnosis. Also, advances in therapy and therapeutical trials are presented in Duchenne and other muscular dystrophies and some novel trea.
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Includes bibliographical references and index.

Description based on print version record.

""MUSCULAR DYSTROPHY. CAUSES AND MANAGEMENT""; ""MUSCULAR DYSTROPHY. CAUSES AND MANAGEMENT""; ""Library of Congress Cataloging-in-Publication Data""; ""Contents""; ""Preface""; ""Section 1. Genetic, Environmental Interactions and Evaluation""; ""Chapter 1: Muscular Dystrophy: The Present and Future""; ""Abstract""; ""The Present""; ""The Future""; ""Genetic and Environmental Interaction""; ""References""; ""Chapter 2: History and Pathogenesis of Muscular Dystrophy""; ""Introduction""; ""Muscular Dystrophy: Recognition of Different Forms""; ""Recognition of Severe X-Linked Muscular Dystrophy""

""The Nosographic Era: The Recognition of Limb-Girdle Dystrophies""""The Recognition of Facio-Scapulo Humeral Dystrophy (FSHD)""; ""Therapeutical Trials in DMD""; ""The Molecular Era""; ""References""; ""Chapter 3: Biomarkers and Genetic Risks""; ""Abstract""; ""Defining Biomarkers""; ""Biomarkers in Muscular Dystrophies""; ""Emerging Biomarkers""; ""Critical Parameters for the Choice of Biomarker Assay""; ""Conclusion""; ""References""; ""Chapter 4: Inflammation in Duchenne Muscular Dystrophy""; ""Introduction""; ""General Aspects of Dystrophic Muscle and the Immune Response""

""Hypothesis on a Putative Link between Functional Concepts of the Immune Response and Development of Fibrosis in DMD""""A View on Pathogenesis in DMD with Emphasis on Fibrosis and Inflammation""; ""Modeling DMD, Mediators and Drivers of the Immune Process �a�? What Can We Learn from the Mouse?""; ""Therapy Targeting Immune Processes""; ""Conclusion""; ""References""; ""Chapter 5: MRI Imaging in Muscular Dystrophies""; ""Abstract""; ""Introduction""; ""MRI Scoring and Interpretation""; ""Duchenne Muscular Dystrophy (DMD)""; ""Limb Girdle Muscular Dystrophies""; ""LGMD2A (Calpainopathy)""

""LGMD 2B (Dysferlinopathy)""""LGMD2I (FKRP Defect)""; ""Myotonic Dystrophy Type 1 (DM1)""; ""PROMM or Myotonic Dystrophy Type 2 (DM2)""; ""Congenital Muscular Dystrophies (CMD)""; ""Hyaline Body Myopathy (Scapulo-Peroneal Syndrome)""; ""Emery�a�?Dreifuss Muscular Dystrophy""; ""Bethlem Myopathy""; ""Future Perspectives""; ""References""; ""Chapter 6: Clinical Scales for the Evaluation of Neuromuscular Patients""; ""Abstract""; ""Motor Function""; ""Quality of Life""; ""References""; ""Section 2. Specific Dystrophies""; ""Chapter 7: Dystrophinopathies""; ""Abstract""

""Introduction: An Overview of Dystrophinopathies""""Clinical Description of DMD""; ""Clinical Description of BMD""; ""Clinical Description of Carriers""; ""Molecular Bases of Dystrophinopathies: The DMD Gene""; ""Molecular Bases of Dystrophinopathy: The Dystrophin Protein""; ""Molecular Bases of Dystrophinopathy: Pathogenesis""; ""Diagnosis of Dystrophinopathy""; ""Genetic Counseling and Prevention""; ""Treatment""; ""References""; ""Chapter 8: Scapulo-peroneal Syndromes""; ""Introduction""; ""Case Presentation""; ""Historical Perspective""; ""1. Scapuloperoneal Muscular Dystrophy (SPMD)""

Muscular Dystrophies include a heterogeneous series of diseases that range from childhood to adult onset cases, of difficult diagnosis and treatment. This book presents the state of the art in muscular dystrophies, after the molecular revolution. In the field of patients' diagnosis, several advances have been done by recognizing new entities. New techniques such as biochemical, molecular advancements, and the use of muscle MRI are collected that allow rapid diagnosis. Also, advances in therapy and therapeutical trials are presented in Duchenne and other muscular dystrophies and some novel trea.

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