Mitochondrial case studies : underlying mechanisms and diagnosis / [electronic resource]
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.
- 1 online resource : illustrations
Includes bibliographical references and index.
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.
0128011491 9780128011492
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.
Electronic books.
Case studies.
RB147.5
616/.042
Includes bibliographical references and index.
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.
0128011491 9780128011492
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.
Electronic books.
Case studies.
RB147.5
616/.042