Abstract:
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 Huntingtons disease.
1. Mendelian Inheritance
Bruce R. Korf
pp. 3-8
2. Nontraditional Inheritance
Shawn E. McCandless; Suzanne B. Cassidy
pp. 9-18
3. Identifying Causal Genetic Factors
Christopher I. Amos; John S. Witte; William G. Newman
pp. 19-26
4. Cancer Genetics and Molecular Oncology
Sharon E. Plon
pp. 27-33
5. Pharmacogenetics
Renee E. Edkins; Dennis J. Cheek
pp. 34-38
6. Hemophilia as a Model Disease for Gene Therapy of Genetic Disorders
Jay Lozier
pp. 39-45
7. Genetic Counseling
Robin L. Bennett
pp. 46-52
8. Animal Models in Biomedical Research: Ethics, Challenges, and Opportunities
Robert W. Williams
pp. 53-60
9. Ethical, Legal, and Social Implications
Marcia Van Riper
pp. 61-65
10. Congenital Heart Disease
Lazaros K. Kochilas; Alvin J. Chin
pp. 66-97
11. Inherited Cardiomyopathies
Carolyn Y. Ho; Christine E. Seidman
pp. 98-104
12. Heart Failure: Emerging Concepts in Excitation-Contraction Coupling and ?-Adrenoceptor Coupling
Clive J. Lewis; Federica del Monte; Sian E. Harding; Roger J. Hajjar
pp. 105-115
13. Aortic Diseases
Saumya Das; James L. Januzzi; Eric M. Isselbacher
pp. 116-120
14. Atherosclerotic Coronary Disease
Robert E. Gerszten; Anthony Rosenzweig
pp. 121-129
15. Lipid Metabolism and Coronary Artery Disease
Mason W. Freeman
pp. 130-137
16. Hypertension
Khurshed A. Katki; Donald J. DiPette
pp. 138-145
17. Cardiac Hypertrophy
Thomas Force; Jeffery D. Molkentin
pp. 146-156
18. Arrhythmias
Barry London
pp. 157-165
19. Genomics
Calum A. MacRae; Christopher J. O'Donnell
pp. 166-174
20. Cardiovascular Gene Therapy
David A. Dichek
pp. 175-184
21. Idiopathic Interstitial Pneumonias
Talmadge E. King
pp. 185-197
22. Asthma
Stephen T. Holgate; Gordon Dent; Mark G. Buckley
pp. 198-213
23. Pulmonary Emphysema
Steven D. Shapiro
pp. 214-222
24. Pulmonary Hypertension
Brian Fouty; David M. Rodman
pp. 223-230
25. Acute Lung Injury
David C. Christiani; Michelle Ng Gong
pp. 231-238
26. Primary Ciliary Dyskinesia
Peadar G. Noone; Maimoona Zariwala; Michael R. Knowles
pp. 239-250
27. Cystic Fibrosis
Scott H. Donaldson; Richard C. Boucher
pp. 251-258
28. Gene Therapy for Lung Diseases
Jane C. Davies; Duncan M. Geddes; Eric W.F.W. Alton
pp. 259-268
29. Sarcoidosis
Kelly D. Chason; Stephen L. Tilley
pp. 269-276
30. Disorders of Pulmonary Surfactant Homeostasis
Jeffrey A. Whitsett; Susan E. Wert; Bruce C. Trapnell
pp. 277-285
31. Mechanisms of Hormone Action
Stephen R. Hammes; Carol A. Lange; Michael J. McPhaul
pp. 287-307
32. Diabetes Mellitus
William L. Lowe
pp. 308-318
33. Pituitary Function and Neoplasia
Shlomo Melmed
pp. 319-326
34. Growth Hormone Deficiency Disorders
Amy Potter; John A. Phillips
pp. 327-336
35. Thyroid Disorders
Peter Kopp
pp. 337-356
36. Disorders of the Parathyroid Gland
Andrew Arnold; Michael A. Levine
pp. 357-364
37. Congenital Adrenal Hyperplasia
Robert C. Wilson; Maria I. New
pp. 365-376
38. Adrenal Diseases
Richard J. Auchus; William E. Rainey; Keith L. Parker
pp. 377-385
39. Multiple Endocrine Neoplasia Type 1
Rajesh V. Thakker
pp. 386-392
40. Multiple Endocrine Neoplasia Type 2
Robert F. Gagel; Sarah Shefelbine; Hironori Hayashi; Gilbert Cote
pp. 393-399
41. Disorders of Sex Determination and Differentiation
Charmian A. Quigley
pp. 400-445
42. Sex Chromosome Disorders
Andrew R. Zinn
pp. 446-452
43. Disorders of Pubertal Development
Tomonobu Hasegawa
pp. 453-465
44. Defects of Androgen Action
Michael J. McPhaul
pp. 466-472
45. Molecular Endocrinology of the Testis
Marco Marcelli; Glenn R. Cunningham; José M. Garcia; Kirk C. Lo; Dolores J. Lamb
pp. 473-494
46. Ovarian Diseases
Elizabeth A. McGee; Tammy L. Loucks
pp. 495-510
47. Gastrointestinal Regulation of Food Intake
Patrick Tso; Min Liu
pp. 513-517
48. Cellular Regulation of Lipolysis
Allan Green
pp. 518-523
49. Fat-Induced Insulin Resistance and Atherosclerosis
Guenther Boden
pp. 524-528
50. Metabolic and Molecular Aspects of Sarcopenia
W. Todd Cade; Kevin E. Yarasheski
pp. 529-534
51. Adipose Tissue Development and Metabolism
Sheila Collins; Yushi Bai; Jacques Robidoux
pp. 535-539
52. Hepatitis C
Johnson Yiu-Nam Lau; Jane Wing-Sang Fang; Masashi Mizokami; Robert G. Gish; Teresa L. Wright
pp. 542-553
53. Molecular Diagnostics in Hepatitis B
Scott Bowden; Stephen Locarnini
pp. 554-566
54. Hereditary Hemochromatosis
Francesca Ferrara; Elena Corradini; Antonello Pietrangelo
pp. 567-572
55. Pancreatic Exocrine Dysfunction
David C. Whitcomb; Jonathan A. Cohn
pp. 573-580
56. Small and Large Bowel Dysfunction
Deborah C. Rubin
pp. 581-589
57. The Molecular Mechanisms of Helicobacter pylori-Associated Gastroduodenal Disease
Peter B. Ernst
pp. 590-602
58. Nitric Oxide Synthase and Cyclooxygenase in the Kidneys
Christopher S. Wilcox
pp. 606-612
59. Hypertension and Sodium Channel Turnover
Douglas C. Eaton; Bela Malik; He-Ping Ma
pp. 613-621
60. Nephrogenic Diabetes Insipidus: Water and Urea Transport
Jeff M. Sands; Daniel G. Bichet
pp. 622-628
61. Glomerulonephritis and Smad Signaling
Hui Y. Lan; Richard J. Johnson
pp. 630-635
62. Interstitial Nephritis
Carla Zoja; Giuseppe Remuzzi
pp. 636-642
63. The Pathophysiology of Acute Renal Failure
Didier Portilla; Gur P. Kaushal; Alexei G. Basnakian; Sudhir V. Shah
pp. 643-649
64. Loss of Lean Body Mass in Uremia
S. Russ Price; William E. Mitch
pp. 650-655
65. Mechanisms of Renal Allograft Rejection
Daniel R. Goldstein; Anirban Bose; Fadi G. Lakkis
pp. 656-662
66. Muscle Development and Differentiation
Eric N. Olson
pp. 665-673
67. Skeletal Muscle Structure and Function
Elizabeth M. McNally; Karen A. Lapidos; Matthew T. Wheeler
pp. 674-681
68. Stem Cells and Muscle Regeneration
Cindy M. Martin; Thomas J. Hawke; Daniel J. Garry
pp. 682-687
69. Skeletal Muscle Hypertrophy and Response to Training
Zhen Yan; R. Sanders Williams
pp. 688-692
70. Muscular Dystrophies: Mechanisms
Peter B. Kang; Louis M. Kunkel
pp. 693-699
71. Rhabdomyosarcomas
Stephen J. Tapscott
pp. 700-703
72. Apoptosis
W. Stratford May; Xingming Deng
pp. 709-719
73. Colorectal Cancer
Satya Narayan
pp. 720-727
74. Breast Cancer
Yi Huang; Nancy E. Davidson
pp. 728-735
75. Lung Cancer
Lei Xiao
pp. 736-742
76. Discoveries and Frontiers in Prostate Cancer Translational Sciences
Jonathan W. Simons
pp. 743-751
77. Cutaneous Melanoma
Moira R. Jackson; Stephen P. Sugrue
pp. 752-759
78. Applications of Gene Expression Profiling to the Study of Malignant Gliomas
Anthony T. Yachnis; Henry V. Baker
pp. 760-765
79. Acute Myeloid Leukemias
Iris T. Chan; D. Gary Gilliland
pp. 766-775
80. Acute Lymphoblastic Leukemia
Alexander E. Perl; Donald Small
pp. 776-788
81. Chronic Myelogenous Leukemia
Brian J. Druker
pp. 789-793
82. Non-Hodgkin's Lymphoma and Chronic Lymphocytic Leukemia
Ayad M. Al-Katib; Anwar N. Mohamed
pp. 794-803
83. Multiple Myeloma: A Story of Genes and the Environment
Kenneth H. Shain; William S. Dalton
pp. 804-817
84. HIV-1, AIDS, and Related Malignancies
Maureen M. Goodenow; James J. Kohler
pp. 818-827
85. Disorders of the Red Cell Membrane
Jean Delaunay; Gordon W. Stewart
pp. 828-837
86. Paroxysmal Nocturnal Hemoglobinuria
Bruno Rotoli; Khedoudja Nafa; Antonio M. Risitano
pp. 838-847
87. Iron Metabolism
Nancy C. Andrews
pp. 848-853
88. Correction of Genetic Blood Defects by Gene Transfer
Marina Cavazzana-Calvo; Salima Hacein-Bey-Abina; Adrian J. Thrasher; Philippe Leboulch; Alain Fischer
pp. 854-861
89. Bone Marrow Failure Syndromes
J. Eric Turner; Thomas C. Shea
pp. 862-870
90. Coagulation Disorders
Stephan Moll; Gilbert C. White
pp. 871-882
81. Chronic Myelogenous Leukemia
Brian J. Druker
pp. 789-793
82. Non-Hodgkin's Lymphoma and Chronic Lymphocytic Leukemia
Ayad M. Al-Katib; Anwar N. Mohamed
pp. 794-803
83. Multiple Myeloma: A Story of Genes and the Environment
Kenneth H. Shain; William S. Dalton
pp. 804-817
84. HIV-1, AIDS, and Related Malignancies
Maureen M. Goodenow; James J. Kohler
pp. 818-827
85. Disorders of the Red Cell Membrane
Jean Delaunay; Gordon W. Stewart
pp. 828-837
86. Paroxysmal Nocturnal Hemoglobinuria
Bruno Rotoli; Khedoudja Nafa; Antonio M. Risitano
pp. 838-847
87. Iron Metabolism
Nancy C. Andrews
pp. 848-853
88. Correction of Genetic Blood Defects by Gene Transfer
Marina Cavazzana-Calvo; Salima Hacein-Bey-Abina; Adrian J. Thrasher; Philippe Leboulch; Alain Fischer
pp. 854-861
89. Bone Marrow Failure Syndromes
J. Eric Turner; Thomas C. Shea
pp. 862-870
90. Coagulation Disorders
Stephan Moll; Gilbert C. White
pp. 871-882
91. Advances in Transfusion Safety
Lorna M. Williamson; Jean-Pierre Allain
pp. 883-890
92. Immunomodulation
Juan C. Gea-Banacloche
pp. 893-904
93. HIV Molecular Biology, Treatment, and Resistance
Frank Maldarelli
pp. 905-911
94. Cellular and Molecular Aspects of Pneumonia
Marcus J. Schultz; Tom van der Poll
pp. 912-919
95. Molecular Pathogenesis of Fungal Infections
Brahm H. Segal
pp. 920-933
96. Psoriasis
James T. Elder
pp. 939-947
97. Atopic Dermatitis
Kefei Kang; Donald Y. M. Leung; Kevin D. Cooper
pp. 948-958
98. Pemphigus Foliaceus, Pemphigus Vulgaris, Paraneoplastic Pemphigus, Bullous Pemphigoid, Herpes Gestationis, and Cicatricial Pemphigoid
Ning Li; David S. Rubenstein; Zhi Liu; Luis A. Diaz
pp. 959-969
99. Systemic Lupus Erythematosus
Amr H. Sawalha; Luis A. Diaz; John B. Harley
pp. 970-978
100. Systemic Sclerosis
Chris T. Derk; Sergio A. Jimenez
pp. 979-989