Principles of Molecular Medicine 2e

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
I Genetics
1 Mendelian inheritance 3
2 Nontraditional inheritance 9
3 Identifying causal genetic factors 19
4 Cancer genetics and molecular oncology 27
5 Pharmacogenetics 34
6 Hemophilia as a model disease for gene therapy of genetic disorders
39
7 Genetic counseling 46
8 Animal models in biomedical research : ethics, challenges, and
opportunities 53
9 Ethical, legal, and social implications 61
II Cardiology
10 Congenital heart disease 69
11 Inherited cardiomyopathies 98
12 Heart failure : emerging concepts in excitation-contraction
coupling and [beta]-adrenoceptor coupling 105
13 Aortic diseases 116
14 Atherosclerotic coronary disease 121
15 Lipid metabolism and coronary artery disease 130
16 Hypertension 138
17 Cardiac hypertrophy 146
18 Arrhythmias 157
19 Genomics 166
20 Cardiovascular gene therapy 175
III Pulmonary diseases
21 Idiopathic interstitial pneumonias 188
22 Asthma 198
23 Pulmonary emphysema 214
24 Pulmonary hypertension 223
25 Acute lung injury 231
26 Primary ciliary dyskinesia 239
27 Cystic fibrosis 251
28 Gene therapy for lung diseases 259
29 Sarcoidosis 269
30 Disorders of pulmonary surfactant homeostasis 277
IV Endocrinology
31 Mechanisms of hormone action 291
32 Diabetes mellitus 308
33 Pituitary function and neoplasia 319
34 Growth hormone deficiency disorders 327
35 Thyroid disorders 337
36 Disorders of the parathyroid gland 357
37 Congenital adrenal hyperplasia 365
38 Adrenal diseases 377
39 Multiple endocrine neoplasia type 1 386
40 Multiple endocrine neoplasia type 2 393
41 Disorders of sex determination and differentiation 400
42 Sex chromosome disorders 446
43 Disorders of pubertal development 453
44 Defects of androgen action 466
45 Molecular endocrinology of the testis 473
46 Ovarian diseases 495
V Metabolic disorders
47 Gastrointestinal regulation of food intake 513
48 Cellular regulation of lipolysis 518
49 Fat-induced insulin resistance and atherosclerosis 524
50 Metabolic and molecular aspects of sarcopenia 529
51 Adipose tissue development and metabolism 535
VI Gastroenterology
52 Hepatitis C 542
53 Molecular diagnostics in hepatitis B 554
54 Hereditary hemochromatosis 567
55 Pancreatic exocrine dysfunction 573
56 Small and large bowel dysfunction 581
57 The molecular mechanisms of Helicobacter pylori-associated
gastroduodenal disease 590
VII Nephrology
58 Nitric oxide synthase and cyclooxygenase in the kidneys 606
59 Hypertension and sodium channel turnover 613
60 Nephrogenic diabetes insipidus : water and urea transport 622
61 Glomerulonephritis and Smad signaling 629
62 Interstitial nephritis 636
63 The pathophysiology of acute renal failure 643
64 Loss of lean body mass in uremia 6