Molecular Pathology in Clinical Practice (eBook)

Debra G.B. Leonard (Herausgeber)

eBook Download: PDF
2007 | 2007
XX, 600 Seiten
Springer New York (Verlag)
978-0-387-33227-7 (ISBN)

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This authoritative textbook embodies the current standard in molecular testing for practicing pathologists, and residents and fellows in training. The text is organized into eight sections: genetics, inherited cancers, infectious disease, neoplastic hematopathology, solid tumors, HLA typing, identity testing, and laboratory management. Discussion of each diagnostic test includes its clinical significance, available assays, quality control and lab issues, interpretation, and reasons for testing. Coverage extends to HIV, hepatitis, developmental disorders, bioterrorism, warfare organisms, lymphomas, breast cancer and melanoma, forensics, parentage, and much more. Includes 189 illustrations, 45 in full-color. This textbook is a classic in the making and a must-have reference.


Molecular Pathology In Clinical Medicine is an authoritative, comprehensive textbook that provides the general pathologist in clinical practice, as well as residents and fellows during their training, with the current standard in molecular testing. The text is divided into 8 sections, as defined by the molecular pathology specialty board: genetics, inherited cancers, infectious disease, neoplastic hematopathology, solid tumors, HLA typing, identity testing, and laboratory management. The book integrates the latest advancements in the field with the basic principles and practical applications. Each chapter discusses the clinical significance of each diagnostic test, available assays, quality control and lab issues, interpretation, and reasons for testing. Chapters cover such topics as HIV, herpes, hepatitis, deafness, developmental disorders, bioterrorism, warfare organisms, lymphomas, breast cancer and melanoma, forensics, parentage, and much more. 189 illustrations, 45 of them in full-color, illustrate the principles outlined in the text. This textbook is a classic in the making and a must-have reference to meet the needs of every pathologist, resident and fellow.

Preface 6
Contents 7
Contributors 11
Basics of Molecular Biology 18
Molecular Pathology Methods 31
Genetics 57
Genetic Counseling 58
Pedigree Analysis and Risk Assessment 64
Bayesian Analysis 76
Developmental Disabilities 88
Neuromuscular Diseases 102
Molecular Genetic Testing for Metabolic Disorders 112
Fibroblast Growth Factor Receptor–Related Skeletal Disorders 123
Cystic Fibrosis 131
Deafness 138
Coagulation Disorders 147
Hematologic Disorders: Hemochromatosis, Hemoglobinopathies, and Rh Incompatibility 163
Cardiovascular Disease 173
Neurodegenerative Disorders 190
Skin and Connective Tissue Disorders 201
Inherited Cancers 214
Inherited Breast Cancer 215
Familial Adenomatous Polyposis and Turcot and Peutz- Jeghers Syndromes 223
Hereditary Nonpolyposis Colorectal Cancer 231
Multiple Endocrine Neoplasia Syndromes 241
The Neurofibromatoses 251
TP53 Mutation and Li-Fraumeni Syndrome 259
von Hippel-Lindau Disease 270
Solid Tumors 274
Breast Cancer 275
Urothelial Carcinoma 285
Sarcomas 292
Gliomas 303
Molecular Detection of Occult Tumor Cells 309
Microarray Studies (Beyond Histology) 316
Neoplastic Hematopathology 322
Acute Myeloid Leukemia 323
Acute Lymphoblastic Leukemia 338
B-Cell Lymphomas 349
T-Cell Lymphomas 365
Lymphoproliferations of Immunodeficiency 372
Myeloproliferative Disorders and Myelodysplastic Syndromes 382
Infectious Diseases 396
Human Immunodeficiency Virus Type 1 397
Hepatitis B and C Viruses 409
Viral Infections in Transplant Patients 423
Viral Infections of the Central Nervous System 434
Sexually Transmitted Diseases 444
Respiratory Pathogens 456
Bacterial Pathogens 467
Mycobacterial Infections 477
Identity Testing 485
Forensic DNA Typing 486
Parentage and Relationship Testing 502
Assessment of Chimerism in the Setting of Allogeneic Hematopoietic Cell Transplantation 511
Specimen Identification Through DNA Analysis 526
HLA Typing 531
Molecular HLA Typing 532
Laboratory Management Issues 542
Molecular Pathology Laboratory Management 543
From Research to Clinical Practice 566
Index 572

Erscheint lt. Verlag 25.11.2007
Zusatzinfo XX, 600 p.
Verlagsort New York
Sprache englisch
Themenwelt Medizin / Pharmazie Gesundheitsfachberufe
Medizin / Pharmazie Medizinische Fachgebiete Allgemeinmedizin
Medizin / Pharmazie Medizinische Fachgebiete Onkologie
Studium 2. Studienabschnitt (Klinik) Humangenetik
Studium 2. Studienabschnitt (Klinik) Pathologie
Schlagworte Carcinom • DNA • Genetics • microarray • Molecular Biology • Molecular Pathology • Neurofibromatose
ISBN-10 0-387-33227-8 / 0387332278
ISBN-13 978-0-387-33227-7 / 9780387332277
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