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Cover of Genetics for Surgeons

Genetics for Surgeons

Remedica Genetics Series

, MD, FRCPCH, FFPHMI and , OBE, MA, MD, FRCS.

Author Information
London: Remedica; .
ISBN-10: 1-901-34669-2

Excerpt

This text is written in non technical language in three main sections: a general overview of the principles in genetics, a section on common genetic disorders that surgeons will encounter, a third section on familial cancers, which, in the case of breast, bowel, and ovarian cancers, account for around 10% of the cancers that surgeons encounter. A fourth section deals with the topics that surgeons and anesthetists should both know, while the glossary at the end of the book allows a quick reference to increasingly common genetics terms.

Contents

  • Acknowledgments
  • Introduction to the Genetics for… series
    Eli Hatchwell.
  • Preface
    Patrick J Morrison and Roy AJ Spence.
  • Chapter 1. Principles of Genetics for Surgeons
    • Changing Times in Modern Surgical Practice
    • Investigation of Familial Disease
    • Genetic Counseling
    • Penetrance
    • Expression
    • Diagnostic and Presymptomatic Testing
      • Technical Aspects of Presymptomatic Gene Testing
    • Practical Approaches to Genetic Testing
      • Case scenario
      • Plan of action
  • Chapter 2. Common Surgical Conditions with a Hereditary Tendency
    • Gastrointestinal Tract
      • Familial Pancreatitis
      • Cholecystitis
      • Pyloric Stenosis
      • Hiatus Hernia
      • Crohn's Disease
      • Ulcerative Colitis
      • Celiac Disease
      • Abdominal Wall Defects
      • Spleen Disorders
      • Intestinal Atresias
    • Skin
      • Tuberose Sclerosis (also known as: tuberose sclerosis complex [TSC])
      • Neurofibromatosis Type I (also known as: NF1)
      • Neurofibromatosis Type II (also known as: NF2)
      • Multiple Lipomatosis
      • Cystic Hygroma
      • Sebaceous Cysts
    • Cardiac
      • Marfan's Syndrome
      • Noonan's Syndrome Type I
      • Down's Syndrome
      • Cardiac Myxoma
      • Structural Cardiac Defects
    • Respiratory
      • Cystic Fibrosis
      • Pneumothorax
      • Ehlers–Danlos Syndrome (also known as: EDS)
      • Pectus Excavatum and Pectus Carinatum
      • Kartagener's Syndrome (also known as: immotile cilia syndrome, primary ciliary dyskinesia)
      • α -1 Antitrypsin Deficiency
      • Lung Cancer
      • Congenital Airway Problems
    • Hematologic
      • Hemochromatosis
      • Hemophilia (includes: hemophilia A, factor VIII deficiency; hemophilia B, Christmas disease, factor IX deficiency)
      • Acute Myeloid Leukemia (also known as: AML)
      • Chronic Myeloid Leukemia (also known as: CML)
      • Chronic Lymphocytic Leukemia (also known as: CLL)
      • Non Hodgkin's Lymphoma
      • Hodgkin's Lymphoma
      • Multiple Myeloma
    • Neurologic
      • Duchenne Muscular Dystrophy
      • Hereditary Motor and Sensory Neuropathy (includes: Charcot–Marie–Tooth [CMT] disease, peroneal muscular atrophy)
      • Huntington's Disease
      • Fragile X Syndrome
      • Facioscapulohumeral Muscular Dystrophy (also known as: FSHD. Includes: Landouzy–Dejerine muscular dystrophy)
      • Dupuytren's Contracture
      • Congenital Dislocation of the Hip (also known as: CDH)
      • Spina Bifida and Neural Tube Defects
      • Hydrocephalus
      • Cataract
  • Chapter 3. Systemic Cancers (Benign and Malignant Tumors)
    • Endocrine
      • Multiple Endocrine Neoplasia Type I (also known as: MEN1)
      • Multiple Endocrine Neoplasia Type IIA (also known as: MEN2A)
      • Multiple Endocrine Neoplasia Type IIB (also known as: MEN2B; Wagenmann–Froboese syndrome)
      • Thyroid Cancer
      • Cowden Disease
      • von Hippel-Lindau Syndrome (also known as: VHL)
      • Familial Paraganglioma Syndrome (also known as: familial glomus tumor, carotid body tumor)
      • Familial Pheochromocytoma
    • Breast
      • Breast Cancer: Introduction
      • Breast Cancer (BRCA1)
      • Breast Cancer (BRCA2)
      • Breast Cancer (BRCA3 and BRCA4)
      • Ataxia–Telangiectasia (also known as: Louis-Bar syndrome)
      • Li–Fraumeni Syndrome (also known as: LFS)
    • Colon
      • Hereditary Non Polyposis Colon Cancer (also known as: HNPCC, Lynch 1 and 2 syndromes)
      • Familial Adenomatous Polyposis (also known as: FAP. Includes: Turcot syndrome, Gardner syndrome)
      • Peutz–Jeghers Syndrome
      • Autosomal Recessive Colon Cancer
      • Juvenile Polyposis Syndromes (also known as: JPS)
      • Gastric Cancer
      • Pancreatic Cancer
      • Tylosis and Esophageal Cancer
    • Urogenital
      • Papillary Renal Cancer
      • Birt–Hogg–Dubé Syndrome
      • Cutaneous Leiomyoma Syndrome
      • Ovarian and other Gynecological Cancers
      • Prostate Cancer
      • Testicular Cancer
    • Skin
      • Gorlin's Syndrome (also known as: basal cell carcinoma syndrome)
      • Familial Atypical Mole Melanoma Syndrome (also known as: FAMM)
      • Squamous Cell Carcinoma (also known as: SCC)
    • Brain
      • Gliomas
      • Meningiomas
      • Primitive Neural Ectodermal Tumors (also known as: PNET)
      • Pituitary Tumors
      • Retinoblastoma
  • Chapter 4. Topics Surgeons and Anesthetists Should Both Know
    • Pheochromocytomas
      • Clinical features
      • Genes
      • Chromosomal location
      • Prevalence
      • Inheritance
      • Age at onset
      • Genetic testing
      • Screening
      • Management
    • Malignant Hyperthermia
      • MIM
      • Clinical features
      • Gene
      • Chromosome
      • Prevalence
      • Inheritance
      • Genetic testing
      • Screening
      • Management
    • Muscle Diseases (include: Duchenne muscular dystrophy [DMD], central core disease)
      • MIM
      • Clinical features
      • Genes
      • Chromosome
      • Prevalence
      • Inheritance
      • Genetic testing
      • Screening
      • Management
    • Chloride Ion Channel Disease (includes: myotonia congenita, Thomsen's disease)
      • MIM
      • Clinical features
      • Gene
      • Chromosome
      • Prevalence
      • Inheritance
      • History
      • Screening
      • Management
    • Sodium Ion Channel Disease (includes: paramyotonia congenita, hyperkalemic periodic paralysis [HPP])
      • MIM
      • Clinical features
      • Gene
      • Chromosome
      • Prevalence
      • Inheritance
      • Screening
      • Management
    • Inherited C1 Esterase Inhibitor Deficiency (includes: hereditary angioneurotic edema)
      • MIM
      • Clinical features
      • Gene
      • Chromosome
      • Prevalence
      • Inheritance
      • Screening
      • Management
  • Appendices
    • Further reading
    • Glossary
    • Abbreviations

Series Editor: Eli Hatchwell, Cold Spring Harbor Laboratory

While every effort is made by the publisher to see that no inaccurate or misleading data, opinions, or statements appear in this book, they wish to make it clear that the material contained in the publication represents a summary of the independent evaluations and opinions of the authors. As a consequence, the authors, publisher, and any sponsoring company accept no responsibility for the consequences of any inaccurate or misleading data or statements. Neither do they endorse the content of the publication or the use of any drug or device in a way that lies outside its current licensed application in any territority.

By agreement with the publisher, this book is accessible by the search feature, but cannot be browsed.

Copyright © 2005, Remedica.
Bookshelf ID: NBK7532

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