Medical Genetics in the Clinical Practice of ORL

Description

Experts in otorhinolaryngology as well as medical genetics have contributed their reviews to this comprehensive compilation. Introductory chapters deal with basic genetics followed by chapters devoted to specific disorders. The gamut of otorhinolaryngological diseases from both adult and pediatric practice is covered. Included are common disorders such as hearing loss, cleft lip and palate, and thyroid cancers as well as further chapters on rare disorders such as Usher syndrome, neurofibromatosis type 2 and paraganglioma. Also, emerging fields of genetic investigation including otitis media, chronic rhinosinusitis and gene therapy are discussed. The contributions focus on diagnosis and management, as well as practical issues like how to order genetic testing or refer to a medical geneticist or genetic counselor.This publication will serve as an educational and reference text for both adult and pediatric otorhinolaryngologists, as well as medical geneticists and genetic counselors. It will provide readers with an understanding of the current state of genetic disorders seen in ORL practice, allow for accurate diagnosis, and improve patient management.

Medical Genetics in the Clinical Practice of ORL 3
Advances in Oto-Rhino-Laryngology 4
Contents 7
Preface 9
Genetic Basis of Conditions Commonly Seen inORL Practice 10
- Abstract 10
- Genetics of Hearing Impairment 13
- Molecular Genetics in Head and Neck Cancer 15
- Conclusions 17
- Skull Base Tumors 17
- References 17
- Systemic Disease with OtolaryngologicFeatures 17
Basic Medical Genetics for the Otolaryngologist 19
- Abstract 19
- Basic Medical Genetics 19

Medical Genetics in the Clinical Practice of ORL 3
Advances in Oto-Rhino-Laryngology 4
Contents 7
Preface 9
Genetic Basis of Conditions Commonly Seen inORL Practice 10
- Abstract 10
- Genetics of Hearing Impairment 13
- Molecular Genetics in Head and Neck Cancer 15
- Conclusions 17
- Skull Base Tumors 17
- References 17
- Systemic Disease with OtolaryngologicFeatures 17
Basic Medical Genetics for the Otolaryngologist 19
- Abstract 19
- Basic Medical Genetics 19
- Patterns of Inheritance 20
- Genetic Phenomena that Impact Assessmentof Patterns of Inheritance 21
- Obtaining a Family Medical History in theOtolaryngology Clinic 23
- Resources 26
- References 26
Ordering Genetic Tests and Interpreting the Results 27
- Abstract 27
- Choosing a Laboratory 27
- Choosing the Right Test 28
- Issues Related to Testing Minors 28
- Informed Consent 29
- GINA 30
- What Genetic Tests Can Reveal AboutRelatives 30
- What Positive and Negative Test Results Mean 31
- Mutations, Polymorphisms, and Variants ofUnknown Significance 31
- Evolving Knowledge and Technology and theImportance of Follow- Up 32
- References 33
Referring Patients for a Medical GeneticsConsultation and Genetic Counseling 34
- Scope of Practice of Clinical Genetics 34
- Abstract 34
- Qualifications and Training of a GeneticCounselor 35
- When to Refer to a Medical Geneticist 35
- Qualifications and Training of a MedicalGeneticist 35
- When to Refer to a Genetic Counselor 35
- Elements of a Genetic Evaluation 36
- How to Find a Medical Geneticist 36
- Reference 36
Towards an Etiologic Diagnosis: Assessing thePatient with Hearing Loss 37
- Abstract 37
- Universal Newborn Hearing Screening 38
- Diagnosing the Etiology of Hearing Loss 38
- Conclusions 43
- Implications of Diagnosis 43
- References 44
Nonsyndromic Hereditary Hearing Loss 46
- Abstract 46
- Autosomal Recessive NSHHL 47
- Autosomal Dominant NSHHL 47
- X- Linked NSHHL 48
- Mitochondrial (Maternally Inherited) NSHHL 48
- Importance of Genetics Consultation 49
- References 49
- Conclusions 49
- Note 49
Hereditary Hearing Loss with ThyroidAbnormalities 52
- Abstract 52
- Resistance to Thyroid Hormone 52
- Pendred Syndrome 53
- Conclusion 56
- References 56
Pigmentary Anomalies and Hearing Loss 59
- Abstract 59
- Hypopigmenation Syndromes 59
- Hyperpigmentation Disorders 62
- References 63
Usher Syndrome: Hearing Loss with Vision Loss 65
- Abstract 65
- Usher Syndrome 65
- Clinical Evaluation of Hearing in USH Patients 66
- Clinical Evaluation of Vestibular Function inUSH Patients 68
- Genetics of USH 69
- Clinical Evaluation of Retinal Function in USHPatients 69
- Genotype- Phenotype Correlation for USHGenes 71
- Why Are There No USH1 Mouse Models? 71
- Acknowledgements 72
- References 72
Genetic Disorders with both Hearing Loss andCardiovascular Abnormalities 75
- Abstract 75
- Defects of the Inner Ear Associated withCardiovascular Malformations 75
- References 81
Hearing Loss Disorders Associated with RenalDisease 84
- Branchio- Oto- Renal Syndrome 84
- Abstract 84
- Alport Syndrome 88
- Miscellaneous Syndromes 89
- Conclusion 90
- References 90
Multiple Endocrine Neoplasia: Types 1 and 2 93
- Abstract 93
- Multiple Endocrine Neoplasia Type 1 93
- Multiple Endocrine Neoplasia Type 2 96
- References 98
- Conclusions 98
- Acknowledgements 98
Neurofibromatosis Type 2 100
- Abstract 100
- Epidemiology 100
- Clinical Description 101
- Genetics 102
- Diagnosis 103
- Differential Diagnosis 103
- NF2 Management 104
- Conclusions 105
- References 105
- Multidisciplinary Management 105
Hereditary Paragangliomas 108
- Abstract 108
- Herited Predisposition to Paragangliomas:Epidemiology and Risk Assessment 109
- Prevalence and Clinical Manifestations of PGLSyndromes 109
- Management of Patients with PGL 113
- References 114
Genetic Causes of Nonsyndromic Cleft Lip with orwithout Cleft Palate 116
- Abstract 116
- Candidate Gene Screening 117
- Genetic Mapping of NSCLP Susceptibility Loci 117
- Conclusions 121
- References 121
Chronic Rhinosinusitis 123
- Chronic Rhinosinusitis and Clinical Evaluations 123
- Abstract 123
- Patients with Chronic Rhinosinusitis andSystemic Conditions 125
- References 128
Otosclerosis 131
- Abstract 131
- Environmental Factors and Otosclerosis 132
- Bone Remodeling and the Otic Capsule 132
- Family Linkage Studies 133
- Genetics of Otosclerosis 133
- Candidate Gene Association Studies 134
- Gene Expression in Otosclerosis 135
- Genome-Wide Association Study 135
- Concluding Remarks 136
- References 136
Genetics of Vestibulopathies 139
- Benign Recurrent Vertigo 139
- Abstract 139
- Bilateral Vestibulopathy 140
- Meniere’s Disease 141
- References 142
Genetics of Otitis Media 144
- Genetics of Otitis Media 144
- Abstract 144
- Applying Genetics to Clinical Practice 148
- References 149
Gene Therapy for Head and Neck Cancer 150
- Abstract 150
- Vectors 151
- Gene Therapy Approaches 155
- References 158
- Conclusions 158
Author Index 161
Subject Index 162

Description

TOC

Reviews (0)