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    1. Naturvetenskap och teknik
    2. Matematik och naturvetenskap
    3. Biologi
    4. Cellbiologi

    Molecular Pathology

    A Primer for Laboratory Scientists

    AvAndrew Blann

    Häftad, Engelska, 2025

    1 290 kr

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    Beskrivning

    Comprehensive textbook on molecular pathology for newcomers to the field, covering history, analytics, types of cancers, and more Molecular Pathology delivers an in-depth outline of molecular pathology appropriate for the undergraduate, postgraduate, or early-stage career lab scientist, drawing from authoritative sources such as NICE, the World Health Organisation, the Office of National Statistics, clinical guidelines, research publications and the National Genomic Test Directory. The text contains numerous tables, diagrams, and photos in each chapter to help elucidate key concepts. The opening chapter provides a general introduction to the subject with a historical perspective of key findings that have led to our current view of molecular pathology. The introduction is followed by a look at the scope of chromosomal disease (such as Down’s syndrome) and genetic disease (such as sickle cell disease). Chapter two describes the numerous analytical tools required in molecular pathology, and how complex genetic data is interpreted – i.e., bioinformatics. The remaining three chapters review the molecular pathology of focused groups of disease, including solid tumor cancer, blood cancer, and metabolic and other genetic diseases. Each of these three chapters explains the role of molecular pathology in the etiology, diagnosis, and management of each particular condition. Sample topics explored in Molecular Pathology include: Generating DNA and RNA for analysis, amplification by PCR, and DNA sequencing through micro-arrays, libraries, and Next Generation SequencingChromosome structure, covering histones and the centromere, abnormal chromosome numbers, and errors within chromosomes such as translocations and deletionsMyelofibrosis, myelodysplasia, essential thrombocythemia, polycythaemia, leukemia, lymphoma, myeloma, and haemopoiesis and maturation arrestMolecular pathology of single organ/organ system disease, such as Huntington’s and cardiomyopathy, and multi-organ disease such as Barth syndromeMolecular Pathology serves as an excellent introduction to the subject for first to third year undergraduate students. Healthcare professionals and biomedical scientists and researchers will also find it valuable.

    Produktinformation

    • Utgivningsdatum:2025-05-29
    • Mått:141 x 215 x 22 mm
    • Vikt:567 g
    • Format:Häftad
    • Språk:Engelska
    • Antal sidor:384
    • Förlag:John Wiley & Sons Inc
    • ISBN:9781394254637

    Utforska kategorier

    • Cellbiologi inom Naturvetenskap och teknik
    • Biokemisk teknik inom Naturvetenskap och teknik
    • Klinisk medicin och internmedicin inom Medicin

    Mer om författaren

    Andrew Blann is Visiting Reader in Biomedical Science at Huddersfield University, UK and Chair of the Molecular Pathology Advisory Panel at the Institute of Biomedical Science in London, UK, a leading group that speaks for 20,000 laboratory scientists. He has six textbooks in press on clinical and biomedical science and has over 500 published research articles available on PubMed. He was Editor of the British Journal of Biomedical Science from 2015–2021, currently Assistant Chief Editor from 2021 to the present.

    Innehållsförteckning

    • Preface xiiiAcknowledgements xvii1 Introduction to Molecular Pathology 11.1 A Historical Perspective 21.1.1 The Development of Molecular Genetics 21.1.2 The Development of Molecular Pathology 81.2 The Scope of Human Disease 151.2.1 The Classification of Disease 151.2.2 Morbidity and Mortality 171.3 Chromosomal Abnormalities and Disease 191.3.1 Chromosomes in Health and Disease 191.3.2 Errors of Chromosome Numbers 241.3.3 Errors of Sections of Chromosomes 261.3.4 Micro-changes to the Genome 321.4 The Practice of Molecular Pathology 341.4.1 Personalised Medicine 351.4.2 National Developments in Molecular Pathology 361.4.3 A Move Back to the General Hospital 381.5 Conclusion and a View Forwards 392 Methods in Molecular Pathology 1 452.1 Sample Acquisition and Preparation 462.1.1 General Considerations 462.1.2 Blood and Soft Tissue 472.1.3 Tissues from Solid Organs 482.2 Cytogenetics and Karyotyping 492.2.1 Practical Considerations 492.2.2 Historical Perspective 502.2.3 Modern Clinical Applications 522.2.4 Paediatrics and Cytogenetics 542.3 Fluorescence In situ Hybridisation 542.3.1 The Evolution of FISH 552.3.2 Uses of FISH Variants in Pathology 562.3.3 Developments in FISH 612.4 Preparation of Nucleic Acids for Analysis 622.4.1 Obtaining DNA 622.4.2 Obtaining RNA 632.4.3 The Library 652.4.4 Amplification of DNA: The Polymerase Chain Reaction 662.4.5 Developments in PCR 682.5 DNA Sequencing 752.5.1 Sanger Sequencing 762.5.2 Technical Advances 772.5.3 The Human Genome Project 782.6 Microarrays 782.6.1 The Theory 782.6.2 The Practice 802.6.3 Disease-linked Gene Panels 832.7 Summary of First-generation Techniques 842.7.1 Moving On 853 Methods in Molecular Pathology 2 873.1 Next-generation Sequencing 883.1.1 Read Length 883.1.2 Pyrosequencing 893.1.3 Ion Torrent Technology 923.1.4 Illumina Sequencing 943.1.5 SOLiD Technology 973.1.6 Luminex Multi-analyte Profiling (xMAP) technology 993.1.7 RNA Sequencing 1003.1.8 Wider Applications of Next-generation Sequencing 1003.1.9 Global and Other Perspectives 1043.2 Third-generation Sequencing 1073.2.1 Nanopore Sequencing 1083.2.2 Pacific Biosystems 1103.2.3 DNA Nanoball Technology 1123.3 Bioinformatics 1143.4 Chapter Summary and Conclusions 1153.4.1 The Technology 1153.4.2 The Practice of Molecular Pathology 1154 Solid Tumour Cancer 1: Carcinoma 1194.1 Introduction to Cancer 1204.1.1 General Comments 1204.1.2 Classification of Cancer 1214.1.3 The Incidence and Mortality of Malignant Cancer 1234.2 The Cellular Basis of Cancer 1254.2.1 Carcinogenesis 1254.2.2 Genes, Proto-oncogenes and Oncogenes 1254.2.3 Genes and Cancer 1274.2.4 Developing Initiatives in Cancer Genetics 1304.2.5 Summary of Section 4.2 1324.3 Lung Cancer 1334.3.1 Introduction 1334.3.2 Molecular Pathology 1344.3.3 Which Genes to Test? 1364.3.4 Molecular Pathology Directing Treatment 1384.4 Colorectal Cancer 1404.4.1 Introduction 1404.4.2 Molecular Pathology 1414.4.3 Which Genes to Test? 1434.4.4 Molecular Pathology Directing Treatment 1434.5 Prostate Cancer 1444.5.1 Introduction 1444.5.2 Molecular Pathology 1454.5.3 Which Genes to Test? 1464.5.4 Molecular Pathology Directing Treatment 1464.6 Breast Cancer 1474.6.1 Introduction 1474.6.2 Molecular Pathology 1484.6.3 Which Genes to Test? 1494.6.4 Molecular Pathology Directing Treatment 1514.7 Pancreatic Cancer 1544.7.1 Introduction 1544.7.2 Molecular Pathology 1544.7.3 Which Genes to Test? 1554.7.4 Molecular Pathology Directing Treatment 1564.8 Other Carcinomas 1564.8.1 Oesophageal Cancer 1564.8.2 Liver Cancer 1564.8.3 Bladder Cancer 1574.8.4 Renal Cancer 1574.8.5 Ovarian Cancer 1584.8.6 Rare Carcinomas 1594.9 Chapter Summary 1614.9.1 Ntrk 1624.9.2 Brca 1624.9.3 Panels of Genes 1644.9.4 Bridge to Chapter 5 1655 Solid Organ Cancers Part 2: Sarcoma, Neurological, Paediatric, Dermal and Others 1675.1 Sarcomas 1685.1.1 Tumours Based on Bone 1685.1.2 Tumours Based on Muscle and Soft Tissues 1695.2 Tumours of the Central Nervous System 1745.2.1 Gliomas 1745.2.2 Meningiomas 1775.2.3 Medulloblastomas 1775.2.4 Pituitary Tumours 1785.3 Paediatric Cancers 1785.3.1 Introduction to Paediatrics 1785.3.2 Blood Cancer 1825.3.3 Neurological Tumours 1865.3.4 Solid Organ Cancers 1905.4 Dermal Cancers 1945.4.1 Squamous Cell Carcinoma and Basal Cell Carcinoma 1945.4.2 Melanoma 1945.4.3 Dermatofibrosarcoma Protuberans 1955.5 Other Cancers 1965.5.1 Multiple Endocrine Neoplasia 1965.5.2 Inherited Cancers 1975.6 Summary 1986 Blood Cancer 2016.1 Lymphoma 2026.1.1 Hodgkin Lymphoma 2036.1.2 Non-Hodgkin Lymphoma 2056.2 Leukaemia 2116.2.1 The Aetiology of Leukaemia 2126.2.2 Myeloid Leukaemia 2136.2.3 Lymphoid Leukaemia 2216.2.4 Other Types of Leukaemia 2286.2.5 Measurable Residual Disease 2326.3 Myeloma and Related Diseases 2336.3.1 The Laboratory 2336.3.2 Monoclonal Gammopathy of Undetermined Significance 2346.3.3 Smouldering Multiple Myeloma 2356.3.4 Myeloma 2376.3.5 Plasma Cell Leukaemia 2406.3.6 The Genetics of Disease Progression 2416.3.7 Routine Molecular Pathology 2416.4 Other Blood Cancer 2426.4.1 Myelofibrosis 2436.4.2 Polycythaemia Vera 2446.4.3 Essential Thrombocythaemia 2456.4.4 Myelodysplasia 2466.4.5 Routine Molecular Pathology of MPNs 2476.4.6 Erythroleukaemia 2496.4.7 Basophils and Mast Cells 2506.4.8 Histiocytosis 2526.5 Summary 2537 Rare, Inherited, Metabolic and Other Diseases 2577.1 Cardiology 2597.1.1 Structural Heart Disease 2607.1.2 Arrhythmia 2627.2 Developmental Disorders 2647.3 Endocrinology 2667.3.1 Diabetes 2667.3.2 Thyroid 2677.3.3 Adrenals 2687.3.4 Parathyroids 2697.3.5 Reproduction 2707.3.6 The Pituitary/Hypothalamus 2727.4 Ophthalmology and Audiology 2737.4.1 Cataracts 2737.4.2 Albinism 2747.4.3 The Optic Nerve 2757.4.4 Other Ocular Diseases 2757.4.5 Audiology 2767.5 Foetal and Non-invasive Prenatal Detection 2777.5.1 The Foetus and Neonate 2777.5.2 The Parent and Adult 2787.6 Gastrohepatology 2817.6.1 Porphyria 2817.6.2 Cholestasis 2817.6.3 Polycystic Liver Diseases 2817.6.4 Pancreatitis 2827.6.5 Hirschsprung Disease 2827.7 Haematology 2827.7.1 Haemoglobinopathies 2837.7.2 Red Cell Enzymopathies 2887.7.3 Combined Haemoglobinopathies and Enzymopathies 2897.7.4 The Red Cell Membrane 2907.7.5 Other Forms of Anaemia 2907.7.6 Haemorrhagic Diseases 2927.7.7 Thrombotic Diseases 2957.7.8 Iron Metabolism 2977.8 Immunology 2987.8.1 Severe Combined Immunodeficiency 2987.8.2 The Haemophagocytic Syndromes 2987.8.3 Hereditary Angioedema 2987.8.4 Other Immunological Diseases 2997.9 Lipid and Metabolic Diseases 2997.9.1 Lipids 2997.9.2 Metabolic Diseases 3007.10 Mitochondrial Diseases 3057.11 Musculoskeletal Diseases 3077.11.1 Diseases Linked to the Fibroblast Growth Factor Receptor 3077.11.2 Muscular Dystrophy 3087.11.3 Other Genetic Musculoskeletal Diseases 3087.12 Neurological Diseases 3097.12.1 Diseases of the Nerves 3107.12.2 The Central Nervous System 3117.12.3 Myopathy 3137.13 Renal Diseases 3147.13.1 The Leading Causes 3147.13.2 Diseases Linked to Electrolyte Disturbances 3157.13.3 Other Causes 3167.14 Respiratory Diseases 3167.14.1 Cystic Fibrosis 3167.14.2 Other Respiratory Diseases 3177.15 Dermatological Diseases 3187.15.1 Xeroderma Pigmentosum 3187.15.2 Other Dermatological Diseases 3197.16 Summary 320Genes Index 323Text Index 345
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