Progress in Medical Genetics (eBook)

Volume 5

Alexander G. Bearn, Arthur G. Steinberg (Herausgeber)

eBook Download: PDF

2013 | 1. Auflage
160 Seiten
Elsevier Science (Verlag)
978-1-4831-9505-6 (ISBN)

Infos

Progress in Medical Genetics: Volume 5 covers the improvements in nutrition and control of childhood disease. This book is divided into five chapters that evaluate the characteristics of thalassemias, an inherited defect in hemoglobin. It addresses the genetic control of hemoglobin synthesis and the clinical pictures and nomenclature of the different porphyrias. Some of the topics covered in the book are the genetic aspects of liver disease connected with jaundice; development of the concept of thalassemia as a hemoglobinopathy; bilirubin metabolism; description of hemolytic jaundice; description of hyperbilirubinemia. The succeeding chapters describe the disturbances in bilirubin uptake and conjugation, as well as the clinical diagnosis of familial non-hemolytic hyperbilirubinemias. An analysis of the Dubin-Johnson and Rotor syndrome is provided. The last chapters consider the genetics of muscular and the analysis of autosomal dominant forms of muscular dystrophy. The book can provide useful information to doctors, endocrinologists, students, and researchers.

Inhalt

Front Cover 
1 
Progress in Medical Genetics 4
Copyright Page 5
Table of Contents 6
Foreword 8
CHAPTER 1. Nature and Nurture 11
REFERENCES 16
CHAPTER 2. The Thalassemias 17
INTRODUCTION 17
GENETIC CONTROL OF HEMOGLOBIN SYNTHESIS 19
DEVELOPMENT OF THE CONCEPT OF THALASSEMIA AS A HEMOGLOBINOPATHY 26
CONDITIONS CLOSELY RELATED TO THE THALASSEMIAS 48
REFERENCES 58
CHAPTER 3. The Porphyrias: A Genetic Problem 67
NOMENCLATURE 67
BIOCHEMICAL PATTERNS IN THE PORPHYRIAS 70
PORPHYRIA ACUTA INTERMITTENS (PAI) OR PYRRHOLOPORPHYRIA HEREDITY 76
DIFFERENCES IN GEOGRAPHICAL INCIDENCE 80
PORPHYRIA VARIEGATA 87
PORPHYRIA CUTANEA TARDA 92
HEREDITARY COPROPORPHYRIA 95
PROTOPORPHYRIA ERYTHROPOIETICA 97
CONGENITAL PORPHYRIA 101
ANIMAL "PORPHYRIA" 102
REFERENCES 107
CHAPTER 4. Genetic Aspects of Liver Disease Associated with Jaundice 111
BILIRUBIN METABOLISM 111
HEMOLYTIC JAUNDICE 112
SHUNT HYPERBILIRUBINEMIA 112
DISTURBANCES IN BILIRUBIN UPTAKE 113
DISTURBANCES OF BILIRUBIN CONJUGATION 113
FAMILIAL NONHEMOLYTIC HYPERBILIRUBINEMIAS 115
IDIOPATHIC RECURRENT CHOLESTASIS 116
THE BILIARY ATRESIAS 116
IDIOPATHIC CHOLESTATIC JAUNDICE OF PREGNANCY 117
HEPATOCELLULAR JAUNDICE 117
GIANT CELL HEPATITIS 118
GALACTOSEMIA 118
OTHER FORMS OF CIRRHOSIS 121
REFERENCES 121
CHAPTER 5. The Genetics of Muscular Dystrophy 125
Introduction 125
REFERENCES 146
Author Index 156
Subject Index 159

Produkt-Details

• Erscheint lt. Verlag: 11.9.2013
• Sprache: englisch
• Themenwelt: Sachbuch/Ratgeber ► Gesundheit / Leben / Psychologie ► Krankheiten / Heilverfahren
• Themenwelt: Medizinische Fachgebiete ► Innere Medizin ► Endokrinologie
• Themenwelt: Studium ► 2. Studienabschnitt (Klinik) ► Anamnese / Körperliche Untersuchung
• Themenwelt: Studium ► Querschnittsbereiche ► Infektiologie / Immunologie
• Themenwelt: Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
• Themenwelt: Technik
• ISBN-10: 1-4831-9505-8 / 1483195058
• ISBN-13: 978-1-4831-9505-6 / 9781483195056