Mitochondrial case studies : underlying mechanisms and diagnosis / [electronic resource]
by Saneto, Russell P [editor.]; Parikh, Sumit [editor.]; Cohen, Bruce H [editor.].
Material type:
BookPublisher: Amsterdam : Elsevier, 2016.Description: 1 online resource : illustrations.ISBN: 0128011491; 9780128011492.Subject(s): 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 studiesOnline resources: ScienceDirect Print version record.
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.
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