Teratology in the Twentieth Century (eBook)

Front Cover 1
Teratology in the Twentieth Century 4
Copyright Page 5
CONTENTS 8
PREFACE 11
CHAPTER 1. INTRODUCTORY MATTERS 12
Coincidental discoveries 13
Early genetic studies 13
CHAPTER 2. DEFINITIONS 13
Introduction: styles 13
A small parenthesis 14
Congenital means present at birth 14
Malformations: abnormalities of structure 15
Recognition of malformations 15
Major and minor malformations 15
Minor malformations and variants 16
CHAPTER 3. CLASSIFICATION 16
Introduction: why classify 16
Classification by cause 16
Classification by type 17
Classification by pathogenesis 18
Nomenclature 18
Taxonomic innovations 19
The developmental field concept 20
CHAPTER 4. FREQUENCY 20
Introduction: early findings 20
Difficulties of establishing frequency 21
A matter of names 21
How often do malformations happen? 22
A definite definition 22
An aside 22
Why investigate malformation frequency 22
Ascertainment 23
Underestimating frequency 23
Overestimating frequency 23
Biological factors 24
Miscellaneous factors 24
CHAPTER 5. EARLY HUMAN STUDIES 25
Introduction: the principal objective 25
X-irradiation 25
Rubella 29
Other infectious diseases 32
Problems regarding intrauterine infection 33
Intrauterine infection in animals 34
CHAPTER 6. PIONEERING WORKS 34
Irradiation studies not appreciated 34
Vitamin deficiency 34
CHAPTER 7. EARLY EXPERIMENTS 36
Introduction: new needs and ideas 36
Principles of teratology 37
Vitamin A and diaphragmatic hernia 37
Power of genetics 38
Basis of diaphragmatic hernia 38
Early investigators 39
Trypan blue 39
Hypoxia 39
A little break: Down syndrome 40
Cortisone studies and by-products 40
A variety of experiments 42
Vitamin antimetabolites 42
CHAPTER 8. NEW CHALLENGES 43
Infant mortality and malformations 43
Teratology conferences 44
The Teratology Society 44
CHAPTER 9. THALIDOMIDE 44
The event 44
The thalidomide syndrome 45
The revelation 45
Thalidomide: safety and sales 46
Toxicity in adults 46
Thalidomide in the USA 46
Thalidomide's teratogenic mechanism 47
Dose- and time-response relations 47
Animal studies with thalidomide 48
Postscript: was anyone to blame? 49
The future? 49
CHAPTER 10. TESTING FOR TERATOGENICITY 50
Proposals for drug testing 50
The procedure 51
The consequence 51
The dose-response curve 51
Teratogens and mutagens 51
CHAPTER 11. TERATOLOGICAL DETOURS 52
Bendectin 52
Blighted potatoes 54
Female sex hormones 55
Diethylstilbestrol 56
CHAPTER 12. SURVEILLANCE OF CONGENITAL MALFORMATIONS 58
Introduction: fears and demands 58
Surveillance and monitoring 58
Monitoring's limited abilities 59
CHAPTER 13. EPIDEMIOLOGY OF CONGENITAL MALFORMATIONS 59
The classical method 59
Epidemiology of malformation communities 60
Familial studies 60
Pyloric stenosis 60
Clefts of the lip and palate 61
Neural tube defects 61
CHAPTER 14. HUMAN DISEASE AS TERATOGEN 62
Phenylketonuria 63
Insulin-dependent diabetes mellitus 67
Hyperthermia 73
CHAPTER 15. ENVIRONMENTAL HAZARDS AND DISASTERS 74
Introduction: widespread dangers 74
Iodine deficiency 75
Organic mercury 76
Agent Orange 77
Seveso 82
Sellafield 83
Chernobyl 84
Polychlorinated biphenyls 84
Love Canal: a study in political teratology 86
CHAPTER 16. DISEASE MEDICATION AND TERATOGENESIS 87
Introduction 87
Retinoids 87
Anticonvulsant drugs 92
Lithium 99
CHAPTER 17. FOLIC ACID AND HUMAN MALFORMATIONS 101
Folic acid deficiency: long-debated effects 101
Maternal folic acid status and NTD 101
Later folate concentration studies 102
The connection develops 102
NTD definition 103
Maternal vitamin usage and NTD 103
Folic acid and NTD recurrence 103
Folic acid and NTD occurrence 105
Has folic acid prevented NTD? 109
Finale 113
Addendum 114
Genes and NTD risk 114
CHAPTER 18. ALCOHOL CONSUMPTION DURING PREGNANCY 114
Introduction: blessing and curse 114
Early Seattle study 114
Fetal alcohol syndrome 114
FAS expanded 115
FAS specificity 115
Diagnosing the FAS 116
Fetal alcohol effects 116
The epidemiological process 117
Prospective studies 117
Retrospective studies 124
Alcohol and neurodevelopment 126
Alcohol and spontaneous abortion 127
Prevalence of the FAS 129
The fundamental problem 131
Animal abortion studies 131
Finale 131
B. Franklin on wine 131
CHAPTER 19. THE ACCOMPLISHMENT AND THE EXPECTATION 132
BIBLIOGRAPHY 133
INDEX 160