Saneto, Russell P. editor. Parikh, Sumit editor. Cohen, Bruce H. editor. text bibliography Electronic books. Case studies. ne 2015 monographic eng

electronic resource

1 online resource : illustrations 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. 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. Includes bibliographical references and index. Mitochondrial pathology Case studies Mitochondrial pathology Diagnosis Case studies HEALTH & FITNESS Diseases General MEDICAL Clinical Medicine MEDICAL Diseases MEDICAL Evidence-Based Medicine MEDICAL Internal Medicine Mitochondrial pathology RB147.5 616/.042 Saneto, Russell. Mitochondrial Case Studies . Druck-Ausgabe 0128011491 9780128011492 http://www.sciencedirect.com/science/book/9780128008775 http://www.sciencedirect.com/science/book/9780128008775 IDEBK 151127 20190328114813.0 ocn930489359 eng