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Pediatric Hematology

Pediatric Hematology
titolo Pediatric Hematology
sottotitolo Methods and Protocols
autori ,
argomento Medicina Pediatria Ematologia
editore Humana Press Inc.
formato Libro
pagine 284
pubblicazione 2003
ISBN 9781588290434
135,00 114,75
Risparmi: € 20,25
Much of the progress in the diagnosis, classification, and treatment of childhood hematological disorders has come from a partnership between clinicians and scientists. Indeed, access to molecular techniques is now an integral part of the practice of modern pediatric hematology. The aim of Pediatric Hematology: Methods and Protocols is to provide a collection of scientific protocols that cover the major aspects of the discipline. Most clinicians will be familiar with the difficulties inherent in establishing the underlying diagnosis in genetic marrow failure syndromes. A particular concern is failure to diagnose those associated with DNA repair defects. In Chapter 1, Dokal and colleagues present simple protocols for the molecular investigation of Fanconi anemia and dyskeratosis congenita. Molecular diagnosis is also important in children with congenital pure red cell aplasia, owing to the highly variable phenotype of this condition. In Chapter 2, Ball describes relevant protocols for the investigation of Diamond-Blackfan anemia. Hereditary hemoglobinopathy is a major cause of death and morbidity throughout the world. This area has seen great advances in screening and antenatal diagnosis. In Chapter 3, Old details protocols for the molecular diagnosis of most forms of hemoglobinopathy. High-quality, accurate molecular testing on small amounts of material has been fundamental to progress in antenatal diagnostics. The introduction to his comprehensive chapter includes a discussion of the general principles that underpin these studies. In contrast to hemoglobinopathy, severe hemophilia is uncommon.

Indice testuale

Part I. Bone Marrow Failure Syndromes Molecular Diagnosis of Fanconi Anemia and Dyskeratosis Congenita Alex J. Tipping, Tom J. Vulliamy, Neil V. Morgan, and Inderjeet Dokal Molecular Diagnosis of Diamond-Blackfan Anemia Sarah Ball and Karen Orfali Part II. Red Blood Cell Disorders Antenatal Diagnosis of Hemoglobinopathies John M. Old Part III. Platelet and Hemostatic Disorders Prenatal Diagnosis of Hemophilia David Stirling Human Platelet Antigen Genotyping by PCR-SSP in Neonatal/Fetal Alloimmune Thrombocytopenia Colin Hurd and Geoff Lucas Multiplex PCR for the Detection of the Factor V Leiden and Prothrombin 20210A Mutations Anne M. Sproul and Elizabeth A. Chalmers Part IV. Immunodeficiency Molecular Diagnosis of Congenital Immunodeficiency David Eastwood, Kimberly C. Gilmour, and Hubert B. Gaspar Part V. Acute Leukemia Molecular Techniques to Improve Outcome in Childhood ALL Frederik W. van Delft and Vaskar Saha Molecular Cytogenetics in Childhood Leukemia Christine J. Harrison, Helena Kempski, David W. Hammond, and Lyndal Kearney Fluorescent IgH Fingerprinting to Assess Minimal Residual Disease in Childhood B-Lineage ALL Paul A. S. Evans and Roger G. Owen Real-Time Quantitative RT-PCR to Detect Fusion Gene Transcripts Associated With AML Rajinder Flora and David Grimwade Real-Time PCR to Detect Minimal Residual Disease in Childhood ALL Cornelia Eckert and Olfert Landt Oligonucleotide Microarray Analysis of Gene Expression in Leukemia Frederik W. van Delft and Louise K. Jones Part VI. Bone Marrow Transplantation HLA Low-Resolution Genotyping for Hematopoietic Stem Cell Transplantation John Harvey, Jenny Price, and Ahna Stanton DNA Sequencing as a Tissue-Typing Tool Paul P. J. Dunn, Sarinder Day, Siaron Williams, and Nina Bendukidze Analysis of Chimerism After Stem Cell Transplantation Peter Bader and Hermann Kreyenberg Index

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