Principles of Molecular Medicine

by Runge, Marschall S.; Patterson, Cam; McKusick, Victor A.

• ISBN13: 9781588292025
• ISBN10: 1588292029
• Edition: 2nd
• Format: Hardcover
• Copyright: 2006-06-30
• Publisher: Humana Pr Inc

Summary

This fully updated and expanded edition of the much-acclaimed Principles of Molecular Medicine provides an integrated survey of the basic principles of internal medicine, in light of recent dramatic discoveries in molecular medicine and new technologies for the diagnosis and treatment of human disease. In addition to fully revised sections on neurology, cardiology, hematology, nephrology, endocrinology, dermatology, immunology, gastroenterology, pulmonary disease, musculoskeletal medicine, and psychiatry, this volume contains new sections on genetics, oncology, metabolic diseases, and infectious diseases. These sections include the latest findings about direct links between genetic mutations and diseases, genomic approaches to a variety of diseases, and stem cell populations that regenerate muscle, heart, and neural cell populations. Other advances elucidated include the roles of bone morphogenetic proteins in pulmonary hypertension, mutations involved in an array of cardiomyopathies, and a new understanding of the biology of previously untreatable neurodegenerative diseases, such as Huntington's disease.

Table of Contents

Foreword	p. V
Foreword to the First Edition	p. VII
Preface	p. IX
Contributors	p. XV
List of Color Plates	p. XXV
Genetics
Mendelian Inheritance	p. 3
Nontraditional Inheritance	p. 9
Identifying Causal Genetic Factors	p. 19
Cancer Genetics and Molecular Oncology	p. 27
Pharmacogenetics	p. 34
Hemophilia as a Model Disease for Gene Therapy of Genetic Disorders	p. 39
Genetic Counseling	p. 46
Animal Models in Biomedical Research: Ethics, Challenges, and Opportunities	p. 53
Ethical, Legal, and Social Implications	p. 61
Cardiology
Congenital Heart Disease	p. 69
Inherited Cardiomyopathies	p. 98
Heart Failure: Emerging Concepts in Excitation-Contraction Coupling and [beta]-Adrenoceptor Coupling	p. 105
Aortic Diseases	p. 116
Atherosclerotic Coronary Disease	p. 121
Lipid Metabolism and Coronary Artery Disease	p. 130
Hypertension	p. 138
Cardiac Hypertrophy	p. 146
Arrhythmias	p. 157
Genomics	p. 166
Cardiovascular Gene Therapy	p. 175
Pulmonary Diseases
Idiopathic Interstitial Pneumonias	p. 188
Asthma	p. 198
Pulmonary Emphysema	p. 214
Pulmonary Hypertension	p. 223
Acute Lung Injury	p. 231
Primary Ciliary Dyskinesia	p. 239
Cystic Fibrosis	p. 251
Gene Therapy for Lung Diseases	p. 259
Sarcoidosis	p. 269
Disorders of Pulmonary Surfactant Homeostasis	p. 277
Endocrinology
Mechanisms of Hormone Action	p. 291
Diabetes Mellitus	p. 308
Pituitary Function and Neoplasia	p. 319
Growth Hormone Deficiency Disorders	p. 327
Thyroid Disorders	p. 337
Disorders of the Parathyroid Gland	p. 357
Congenital Adrenal Hyperplasia	p. 365
Adrenal Diseases	p. 377
Multiple Endocrine Neoplasia Type 1	p. 386
Multiple Endocrine Neoplasia Type 2	p. 393
Disorders of Sex Determination and Differentiation	p. 400
Sex Chromosome Disorders	p. 446
Disorders of Pubertal Development	p. 453
Defects of Androgen Action	p. 466
Molecular Endocrinology of the Testis	p. 473
Ovarian Diseases	p. 495
Metabolic Disorders
Gastrointestinal Regulation of Food Intake	p. 513
Cellular Regulation of Lipolysis	p. 518
Fat-Induced Insulin Resistance and Atherosclerosis	p. 524
Metabolic and Molecular Aspects of Sarcopenia	p. 529
Adipose Tissue Development and Metabolism	p. 535
Gastroenterology
Hepatitis C	p. 542
Molecular Diagnostics in Hepatitis B	p. 554
Hereditary Hemochromatosis	p. 567
Pancreatic Exocrine Dysfunction	p. 573
Small and Large Bowel Dysfunction	p. 581
The Molecular Mechanisms of Helicobacter pylori-Associated Gastroduodenal Disease	p. 590
Nephrology
Nitric Oxide Synthase and Cyclooxygenase in the Kidneys	p. 606
Hypertension and Sodium Channel Turnover	p. 613
Nephrogenic Diabetes Insipidus: Water and Urea Transport	p. 622
Glomerulonephritis and Smad Signaling	p. 629
Interstitial Nephritis	p. 636
The Pathophysiology of Acute Renal Failure	p. 643
Loss of Lean Body Mass in Uremia	p. 650
Mechanisms of Renal Allograft Rejection	p. 656
Musculoskeletal
Muscle Development and Differentiation	p. 665
Skeletal Muscle Structure and Function	p. 674
Stem Cells and Muscle Regeneration	p. 682
Skeletal Muscle Hypertrophy and Response to Training	p. 688
Muscular Dystrophies: Mechanisms	p. 693
Rhabdomyosarcomas	p. 700
Oncology
Solid Tumors
Apoptosis	p. 709
Colorectal Cancer	p. 720
Breast Cancer	p. 728
Lung Cancer	p. 736
Discoveries and Frontiers in Prostate Cancer Translational Sciences	p. 743
Cutaneous Melanoma	p. 752
Applications of Gene Expression Profiling to the Study of Malignant Gliomas	p. 760
Hematological Malignancies
Acute Myeloid Leukemias	p. 767
Acute Lymphoblastic Leukemia	p. 776
Chronic Myelogenous Leukemia	p. 789
Non-Hodgkin's Lymphoma and Chronic Lymphocytic Leukemia	p. 794
Multiple Myeloma: A Story of Genes and the Environment	p. 804
HIV-1, AIDS, and Related Malignancies	p. 818
Hematology
Disorders of the Red Cell Membrane	p. 830
Paroxysmal Nocturnal Hemoglobinuria	p. 838
Iron Metabolism	p. 848
Correction of Genetic Blood Defects by Gene Transfer	p. 854
Bone Marrow Failure Syndromes	p. 862
Coagulation Disorders	p. 871
Advances in Transfusion Safety	p. 883
Immunology and Infectious Diseases
Immunomodulation	p. 893
HIV Molecular Biology, Treatment, and Resistance	p. 905
Cellular and Molecular Aspects of Pneumonia	p. 912
Molecular Pathogenesis of Fungal Infections	p. 920
Dermatology
Immune Mediated
Psoriasis	p. 939
Atopic Dermatitis	p. 948
Pemphigus Foliaceus, Pemphigus Vulgaris, Paraneoplastic Pemphigus, Bullous Pemphigoid, Herpes Gestationis and Cicatricial Pemphigoid	p. 959
Systemic Lupus Erythematosus	p. 970
Systemic Sclerosis	p. 979
Nonimmune
Diseases With Signaling and Transcriptional Abnormalities	p. 991
Genetic Skin Diseases With Neoplasia	p. 998
Melanoma and Nevi	p. 1004
Disorders of Hypopigmentation	p. 1011
Epidermolysis Bullosa	p. 1024
Connective Tissue Disorders: The Paradigms of Ehlers-Danlos Syndrome and Pseudoxanthoma Elasticum	p. 1035
Genetic Epidermal Diseases	p. 1043
Genetic Hair and Nail Defects	p. 1052
Metabolic Genetic Disorders With Prominent Skin Findings	p. 1059
Heritable Conditions Affecting Tissues of the Oral Cavity	p. 1065
Neurology
The Genetic Basis of Human Cerebral Cortical Malformations	p. 1073
Muscular Dystrophies: Molecular Diagnosis	p. 1080
Channelopathies of the Nervous System	p. 1088
Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies	p. 1097
Amyotrophic Lateral Sclerosis and Related Motor Neuron Disorders: Lessons in Pathogenesis and Therapy From Genetics	p. 1105
Trinucleotide Repeat Disorders	p. 1114
Parkinson's Disease	p. 1123
Genetics and Neurobiology of Alzheimer's Disease and Frontotemporal Dementias	p. 1130
Prion Diseases	p. 1142
Narcolepsy and Other Neurological Sleep Disorders	p. 1153
Neurofibromatosis 1 and 2	p. 1160
Axonal Regeneration and Recovery From Chronic Central Nervous System Injury	p. 1165
Psychiatry
Molecular Mechanisms Regulating Behavior: Focus on Genetic and Environmental Influences	p. 1175
The Complex Genetics of Psychiatric Disorders	p. 1184
Treating Depression: Antidepressant-Activated Signaling Pathways as a Source for Novel Drug Targets	p. 1191
Anxiety Disorders	p. 1197
Trauma Spectrum Disorders	p. 1203
Schizophrenia	p. 1211
Disorders of Substance Abuse and Dependence	p. 1220
Autism and Related Disorders	p. 1228
Index	p. 1237
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