Genetics in Anesthesiology: Syndromes and Science

Author: Guy L. Weinberg
Published: January 1996
Publisher: Elsevier Science
ISBN: 0750694793
Hardcover Book
Number of Pages: 222

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This textbook of medical genetics focuses on both molecular biology of human genetics and specific disease states. The purpose is to discuss a heretofore neglected aspect of anesthesiology. This is a fascinating addition to the current body of literature. It is a needed reference; anesthesiologists are encountering more patients with genetic disorders because these patients are surviving longer with advancements in modern medicine. According to the author, the book is written for all levels of practitioners, especially clinical anesthesiologists. In general, the content, style, and organization of the book is appropriate for the targeted audience. Illustrations include line art and black-and-white photographs of case studies that illustrate important concepts. The quality of the illustrations is excellent, and they greatly enhance the understanding of potentially complex genetic concepts and disease states. References are limited to several important documents for each chapter. However, they are all pertinent and current. The book is deceptively small and simple. The print type is highly legible, and the book's seemingly small size makes the topic less forbidding to readers. This is certainly a unique entry in the anesthesia literature. It fills a niche that has been largely overlooked by other authors. Dr. Weinberg has provided a highly readable text that explains clearly important concepts in human genetics and their anesthetic implications for the clinical anesthesiologist. As such, this book is a valuable addition to any library. An exploration of molecular genetics in relation to anesthesiology presenting the basics of clinical genetics and discussions of 25 genetic diseases. Weinberg (anesthesiology, U. of Illinois) introduces the central concepts of recombinant technology, perioperative evaluation of genetic disease, and issues in anesthesia research. The syndrome survey highlights such diseases as cystic fibrosis, hemophilia, sickle cell disease, and turner syndrome, providing the clinician with the scientific information necessary to understand the new research in genetic disease and patient care.

Table of Contents
Forewords
Preface and Acknowledgments
Introduction 1
1 Modes of Inheritance 10
2 Principles of Clinical Genetics 24
3 Practice of Clinical Genetics 29
4 The Central Dogma 41
5 Recombinant Technology 53
6 Breakthroughs 68
7 Perioperative Evaluation of Genetic Disease 83
8 Reverse Genetics in the Operating Room: Does Anesthetic Exposure Alter Your Genes? 95
9 Genetics in Anesthesia Mechanisms Research 102
10 Malignant Hyperthermia 113
11 Achondroplasia 123
12 Acute Intermittent Porphyria 127
13 Alpha-1-Antitrypsin Deficiency 129
14 Crouzon Syndrome 133
15 Cystic Fibrosis 136
16 Duchenne Muscular Dystrophy 140
17 DiGeorge Sequence 142
18 Epidermolysis Bullosa 146
19 Hemophilia A 149
20 Hereditary Angioedema 153
21 Holt-Oram Syndrome 155
22 Hurler Syndrome 157
23 Idiopathic Hypertrophic Subaortic Stenosis 160
24 Malignant Hyperthermia 164
25 Marfan Syndrome 172
26 Morquio Syndrome 177
27 Myotonic Dystrophy 180
28 Neurofibromatosis 183
29 Osteogenesis Imperfecta 186
30 Plasma Cholinesterase Deficiency 189
31 Robin Sequence 193
32 Sickle Cell Disease 196
33 Trisomy 21 203
34 Turner Syndrome 206
35 von Willebrand Disease 209
Index 213

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