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E-book

Title Clues for differential diagnosis of neuromuscular disorders / Gulden Diniz, editor
Published Cham : Springer International Publishing AG, [2023]

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Description 1 online resource (xiii, 357 pages)
Contents Intro -- Preface -- Contents -- Editor and Contributors -- About the Editor -- Contributors -- Contributors to Figures -- Native English Editors of Book -- 1: A Quick Glance at the Neuromuscular Disorders -- What Is a Neuromuscular Disorder? -- Where Do Neuromuscular Disorders Originate? -- How Are Neuromuscular Disorders Classified? -- Why Is the Differential Diagnosis of Neuromuscular Disorders Necessary? -- Do Muscle and Nerve Biopsies Contribute to the Differential Diagnosis of Neuromuscular Disorders?
Does a Differential Diagnosis Contribute to the Treatment of Neuromuscular Disorders? -- What Will the Future Management of Neuromuscular Disorders Be Like? -- References -- 2: Understanding of the Muscle and Nerve Tissue -- Embryologic Development of Muscle Tissue -- Embryologic Development of Nerve Tissue -- Histology of the Skeletal Muscle -- Histology of Peripheral Nerves -- Understanding Mitochondria -- Understanding the Cell's Energy Production -- References -- 3: The Procedure of Nerve Biopsy -- References -- 4: The Procedure of Muscle Biopsy -- Introduction -- Indications
Biopsy Procedure -- Open Biopsy -- Needle Biopsy -- Patient Preparation Before the Procedure -- Shipping of the Specimen -- Technical Issues -- Complications -- References -- 5: Preparation of Muscle and Nerve Biopsy -- Preparation of Muscle Biopsy -- Histochemical Stains and Reactions of Muscle Biopsy -- Enzyme Stains and Reactions of Muscle Biopsy -- Immune-Based Analyses Used for Muscle Biopsy -- Preparation of Nerve Biopsy -- Histochemical and Immunohistochemical Stains of Nerve Biopsy -- Diagnostic Usefulness of Electron Microscopy for Muscle and Nerve Biopsies -- References
6: How to Read a Muscle or a Nerve Biopsy? -- How to Read a Muscle Biopsy? -- How to Read a Nerve Biopsy? -- References -- 7: Molecular Diagnostic Procedures and Genetics in Neuromuscular Disorders -- Genetic Basis of Diseases -- Molecular Genetic Diagnostic Methods and Bioinformatics Approaches -- Molecular Genetic Basis of Neuromuscular Diseases -- Dystrophinopathies -- Myotonic Dystrophy Type 1 (DM1) -- Facioscapulohumeral Muscular Dystrophy (FSHD) -- Limb-Girdle Muscular Dystrophy (LGMD) -- Congenital Myopathies (CM) -- Nemaline Myopathy
Core Myopathy (Central Core and Multiminicore/Multicore) -- Centronuclear Myopathy (Myotubular Myopathy/Autosomal Centronuclear Myopathy) -- Congenital Fiber-Type Disproportionate Myopathy -- Myosin Deposition Myopathy -- Congenital Muscular Dystrophy (CMD) -- Structural Protein Defects -- Glycosylation Defects -- Defects of Endoplasmic Reticulum Proteins -- Defects of Nuclear Envelope Proteins -- Spinal Muscular Atrophy (SMA) -- Charcot-Marie-Tooth Disease (CMT) -- References -- 8: Radiological Procedures Used in the Differential Diagnosis of Neuromuscular Disorders -- Introduction -- Radiological Modalities in Neuromuscular Imaging
Summary This book evaluates muscle and nerve biopsies. It creates a more analytical view of neuromuscular diseases in the light of clinical findings. Diseases that occur mostly in muscle or nerve tissue may show common clinical findings. Addressing these two issues together will make it easier to understand the diseases. Neuromuscular diseases, normal histology, embryology, and physiopathology of muscles and nerves are discussed with a main focus on differential diagnosis. The book also presents the most cost-effective and easiest-to-follow algorithms for the differential diagnosis of diseases
Notes Description based upon print version of record
Subject Neuromuscular diseases -- Diagnosis.
Diagnosis, Differential.
Diagnosis, Differential
Form Electronic book
Author Diniz, Gulden, editor
ISBN 9783031339240
303133924X