Lanzkowsky’s manual of pediatric hematology and oncology by Philip Lanzkowsky, Jeffrey M. Lipton, Jonathan D. Fish

By Philip Lanzkowsky, Jeffrey M. Lipton, Jonathan D. Fish

Lanzkowsky’s handbook of Pediatric Hematology and Oncology, 6th Edition, is a accomplished booklet on sufferer administration, replete with algorithms and circulation diagrams on analysis and administration. Reflecting the substantial advances within the remedy and administration of hematologic and oncologic ailments in young children, the 6th variation of this profitable medical handbook has been totally up to date to include all present remedy protocols, new medicinal drugs, and administration methods. Its concise and easy-to-read structure will let readers to make exact diagnoses and allow them to regard sufferers with no need to reference higher clinical textbooks.

Based at the new criteria of genetic class and prognostic details that experience arisen long ago 5 years, the 6th variation contains new chapters (Diagnostic, Molecular, and Genomic Methodologies for the Hematologist, Transfusion drugs) and a number of other new accelerated chapters that have been formerly sections in consolidated chapters (Myelodysplasia, Myeloid Leukemias, Lymphoid Leukemias, Hemolytic Anemia, and issues of Coagulation).

  • Presents a concise, systematic method of all pediatric hematologic and oncologic problems in a single manual
  • Offers a substitute for larger references which in simple terms hide both oncologic or hematologic issues in two times as many pages
  • Presents an easy-to-read layout: a number of tables, charts, and flow-diagrams for analysis and administration of pediatric hematologic and oncologic disorders
  • Includes 2 new chapters and several other extended chapters: Diagnostic, Molecular and Genomic Methodologies for the Hematologist, Transfusion drugs, Myelodysplasia, Myeloid Leukemias, and Lymphoid Leukemias

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Example text

Direct testing: These approaches look for the presence of genetic mutations that directly contribute to disease. 2. Indirect testing: This category includes approaches that compare genomic or molecular markers in multiple affected individuals to unaffected individuals. These approaches often identify markers that may segregate with a disease, but the markers themselves may not cause the disease itself. There may be overlap between these categories and certain methods may identify causal genetic mutations in some instances (direct testing), while only identifying segregating markers (indirect testing) in other cases.

For example, testing for markers such as Lanzkowsky’s Manual of Pediatric Hematology and Oncology. 00001-6 1 © 2016 Elsevier Inc. All rights reserved. 2 1. 1 Overview of Molecular and Genomic Diagnostic Methodologies Method Common Rare Copy point point number mutations mutations variants Linkage analysis (using markers such as short tandem repeats) X Uniparental disomy Balanced inversions or translocations Repeat Examples of use in pediatric expansions hematology/oncology X Fluorescent in situ hybridization X Array comparative genomic hybridization X Genome-wide single nucleotide polymorphism microarrays X Targeted polymerase chain reaction analysis X X Sanger sequencing X X Family pedigree with history of hereditary spherocytosis and interest in identifying causal gene X Acquired monosomy in myelodysplastic syndrome X Testing for microdeletion in patient with hematologic and syndromic phenotype X Multiplex ligationdependent probe amplification X X X Whole-genome or -exome sequencing X X Testing for JAK2 V617F mutation in patient with a myeloproliferative disorder Molecular diagnosis of a patient with pyruvate kinase deficiency X Gene panel sequencing Testing for small copy number variants in pediatric leukemia X Deletions in α- or δβ- thalassemia cases Severe congenital neutropenia X Unknown bone marrow failure syndrome single nucleotide polymorphisms (SNPs) or short tandem repeats (STRs, which are 2À5 base long repetitive elements with varying numbers of repeats) that are found throughout the genome can be extremely useful as a way to identify likely causal genes, particularly in diseases where multiple possible causal genes have been implicated.

The biology and clinical impact of genetic lesions in myeloid malignancies. Blood 122, 3741À3748. , 2014. Guidelines for investigating causality of sequence variants in human disease. Nature 508, 469À476. , 2013. Genome sequencing of lymphoid malignancies. Blood 122, 3899À3907. , on behalf of the Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee, 2008. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet. Med. 10, 294À300.

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