Mitochondrial case studies : underlying mechanisms and diagnosis /

Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Saneto, Russell P. (Editor ), Parikh, Sumit (Editor ), Cohen, Bruce H. (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Amsterdam : Elsevier, [2016]
Temas:
Mitochondrial pathology > Case studies.
Mitochondrial pathology > Diagnosis > Case studies.
Mitochondrial Diseases
Maladies mitochondriales > �Etudes de cas.
HEALTH & FITNESS > Diseases > General.
MEDICAL > Clinical Medicine.
MEDICAL > Diseases.
MEDICAL > Evidence-Based Medicine.
MEDICAL > Internal Medicine.
Mitochondrial pathology
Case Reports
Case studies
Case studies.
�Etudes de cas.
Acceso en línea:Texto completo
Tabla de Contenidos:
  • 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.

Ejemplares similares