CONTENTS
CONTENTS
Title Page
DEDICATION iii
ACKNOWLEDGEMENT iv
CONTENTS vi
LIST OF TABLES ix LIST OF FIGURES xi
LIST OF ABBREVIATIONS xii
AIMS AND OBJECTIVES xiv
ABSTRACT IN ENGLISH xv
ABSTRACT IN ARABIC xvii
CHAPTER I: INTRODUCTION 1
I.1 BEHÇET'S DISEASE 2
I.1.1 Historical Background 2
I.1.2 Epidemiology 4
I.1.3 Diagnosis 6
I.1.4 Clinical Manifestations 8
I.1.4.1 Oral Ulcerations 10
I.1.4.2 Genital Ulcers 12
I.1.4.3 Cutaneous Manifestations 12
I.1.4.4 Ocular Lesions 13
I.1.4.5 Articular Manifestations 14
I.1.4.6 Vascular Manifestations 15
I.1.4.7 Neuro - Behçet’s Disease 16
I.1.4.8 Gastrointestinal Involvement 16
I.1.4.9 Other Rare Findings 16
I.1.5 Pathology 17
I.1.6 Etiopathogenesis 18
I.1.6.1 Behçet’s Disease-An Infective Etiology 18
I.1.6.2 Heritable Risk Factors for Behçet's Disease 20
I.1.7 Laboratory Findings 25
I.1.8 Treatment 26
I.1.9 Prognosis 26
I.2 FAMILIAL MEDITERRANEAN FEVER 28
I.2.1 MEFV Gene and Pyrin 28
I.2.2 MEFV Mutations 34
I.3 ASSOCIATION BETWEEN BD AND FMF 40
CHAPTER II: MATERIALS AND METHODS 43
II.1 STUDY GROUP 44
II.1.1 Patients 44
II.1.2 Diagnostic Criteria 44
II.2 SAMPLES PROCESSING 47
II.2.1 Buffy Coat DNA Purification Protocol 47
II.2.2 Genomic DNA Quantification 48
II.3 MUTATIONS ANALYSIS 49
II.3.1 Polymerase Chain Reaction 49
II.3.2 Amplification Refractory Mutation System 50
II.4 AGAROSE GEL ELECTROPHORESIS 55
II.5 DIRECT DNA SEQUENCING 56
II.5.1 Exon 10 Amplification Conditions 56
II.5.2 Exon 10 Fragments Purification from
Gel Bands Protocol 57
II.5.3 Automated Sequencing 59
II.6 STATISTICAL ANALYSIS 59
CHAPTER III: RESULTS 60
III.1 CLINICAL DATA 61
III.2 DISTRIBUTION OF MEFV SEQUENCE
VARIATIONS 66
III.3 GENOTYPE – PHENOTYPE CORRELATION 77
III.4 DISTRIBUTION OF FACTOR V LEIDEN
MUTATION 80
CHAPTER VI: DISCUSSION 82
REFERENCES 104
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