05874cam a2200625Ii 4500 ocn930489359 OCoLC 20190328114813.0 m o d cr |n||||||||| 151127s2015 ne a ob 001 0 eng d IDEBK eng rda pn IDEBK N$T YDXCP N$T OPELS EBLCP WURST CDX OCLCQ DEBBG OCLCQ U3W D6H OCLCF AU@ 0128011491 (electronic bk.) 9780128011492 (electronic bk.) 0128008776 9780128008775 (OCoLC)930489359 RB147.5 HEA 039000 bisacsh MED 014000 bisacsh MED 022000 bisacsh MED 112000 bisacsh MED 045000 bisacsh 616/.042 23 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. Amsterdam : Elsevier, 2016. �2016 1 online resource : illustrations text txt rdacontent computer c rdamedia online resource cr rdacarrier 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. Mitochondrial pathology Case studies. Mitochondrial pathology Diagnosis Case studies. HEALTH & FITNESS Diseases General. bisacsh MEDICAL Clinical Medicine. bisacsh MEDICAL Diseases. bisacsh MEDICAL Evidence-Based Medicine. bisacsh MEDICAL Internal Medicine. bisacsh Mitochondrial pathology. fast (OCoLC)fst01024022 Electronic books. Case studies. fast (OCoLC)fst01423765 Saneto, Russell P., editor. Parikh, Sumit, editor. Cohen, Bruce H., editor. Erscheint auch als: Druck-Ausgabe Saneto, Russell. Mitochondrial Case Studies . Underlying Mechanisms and Diagnosis ScienceDirect http://www.sciencedirect.com/science/book/9780128008775 247229 247229