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Title Mitochondrial case studies : underlying mechanisms and diagnosis / edited by Russell P. Saneto, Department of Neurology/Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA, USA, Sumit Parikh, Cleveland Clinic Lerner College of Medicine & Case Western Reserve University, Cleveland, OH, USA ; Neurogenetics, Metabolism and Mitochondrial Disease Center, Cleveland Clinic, Cleveland, OH, USA, Bruce H. Cohen, Northeast Ohio Medical University, Rootstown, OH, USA ; the NeuroDevelopmental Science Center and Division of Neurology, Department of Pediatrics, Children's Hospital and Medical Center of Akron, Akron, OH, USA
Published Amsterdam : Elsevier, [2016]
©2016

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Description 1 online resource : illustrations
Contents Front Cover -- Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis -- Copyright -- Contents -- Contributors -- Preface -- 1 -- Introduction: Mitochondrial Medicine -- INTRODUCTION -- OVERVIEW OF MITOCHONDRIAL STRUCTURE AND FUNCTION -- A BRIEF HISTORY OF CLINICAL MITOCHONDRIAL MEDICINE AND CLINICAL FEATURES -- REFERENCES -- FURTHER READING -- I -- Mitochondrial DNA Encoded Diseases -- 2 -- Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) -- CASE PRESENTATION -- INTRODUCTION -- PATHOPHYSIOLOGY -- DIAGNOSTIC APPROACH -- Metabolites
Cerebrospinal Fluid -- Neuroimaging -- Muscle Biopsy -- Genetic Testing -- Other Investigations -- DIFFERENTIAL DIAGNOSIS -- TREATMENT -- CLINICAL PEARLS -- REFERENCES -- 3 -- MERRF: Myoclonus Epilepsy and Ragged Red Fibers -- CASE PRESENTATIONS -- Case 1 -- Case 2 -- DIFFERENTIAL DIAGNOSIS -- Case 1 -- Case 2 -- Diagnostic Approach -- TREATMENT STRATEGIES -- LONG-TERM OUTCOME -- PATHOPHYSIOLOGY -- CLINICAL PEARLS -- FURTHER READING -- 4 -- Pearson Syndrome -- CASE PRESENTATION -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH -- TREATMENT STRATEGIES -- LONG-TERM OUTCOME -- PATHOPHYSIOLOGY
CLINICAL PEARLS -- FURTHER READING -- 5 -- Kearns-Sayre Syndrome -- CASE PRESENTATION -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH AND PATHOPHYSIOLOGY -- TREATMENT -- LONG-TERM OUTCOME -- CLINICAL PEARLS -- FURTHER READING -- 6 -- Chronic Progressive External Ophthalmoplegia (CPEO) -- CASE PRESENTATION -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH -- TREATMENT STRATEGY -- LONG-TERM OUTCOME -- PATHOPHYSIOLOGY -- CLINICAL PEARLS -- FURTHER READING -- 7 -- Leber Hereditary Optic Neuropathy -- CASE PRESENTATION -- Clinical Case -- Discussion -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH
PATHOPHYSIOLOGY -- Secondary mtDNA Factors -- Nuclear Susceptibility Genes -- Hormonal Differences -- Environmental Triggers -- CASE MANAGEMENT -- Supportive Measures -- Preventative Measures -- Mitochondrial Cocktails -- Neuroprotective Agents -- Gene Therapy -- Unproven Treatments -- CLINICAL PEARLS -- FURTHER READING -- 8 -- Leigh Syndrome -- CASE PRESENTATION -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH AND PATHOPHYSIOLOGY -- TREATMENT -- CLINICAL PEARLS -- REFERENCES -- 9 -- Neuropathy, Ataxia, and Retinitis Pigmentosa -- CASE PRESENTATION -- DIFFERENTIAL DIAGNOSIS AND DIAGNOSTIC APPROACH
CLINICAL PRESENTATION -- PATHOPHYSIOLOGY -- TREATMENT -- CLINICAL PEARLS -- REFERENCES -- FURTHER READING -- 10 -- Maternally Inherited (Mitochondrial) Diabetes -- CASE PRESENTATION -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH -- TREATMENT STRATEGY -- LONG-TERM OUTCOME -- PATHOPHYSIOLOGY/NEUROBIOLOGY OF DISEASE -- CLINICAL PEARLS -- REFERENCES -- FURTHER READING -- 11 -- Sporadic Myopathy -- CASE PRESENTATIONS -- Case 1 [1] -- Case 2 [2] -- Case 3 [4] -- DIFFERENTIAL DIAGNOSIS -- DIAGNOSTIC APPROACH -- PATHOPHYSIOLOGY -- CLINICAL PEARLS -- REFERENCES -- II -- Nuclear Encoded Diseases
12 -- Pyruvate Dehydrogenase Complex Deficiency
Bibliography Includes bibliographical references and index
Notes Print version record
Subject Mitochondrial pathology -- Case studies
Mitochondrial pathology -- Diagnosis -- Case studies
Mitochondrial Diseases
HEALTH & FITNESS -- Diseases -- General.
MEDICAL -- Clinical Medicine.
MEDICAL -- Diseases.
MEDICAL -- Evidence-Based Medicine.
MEDICAL -- Internal Medicine.
Mitochondrial pathology
Genre/Form Case studies
Case studies.
Études de cas.
Form Electronic book
Author Saneto, Russell P., editor
Parikh, Sumit, editor
Cohen, Bruce H., editor.
ISBN 0128011491
9780128011492