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Physiologic Solutions A physiologic solution is one that contains various salts in concentrations that closely approximate the composition of fluids in the human body. The simplest of these is physiologic saline, which has the same osmotic pressure as the blood.…
Key Points Completion of the Human Genome Project has provided scientists with a detailed map of the human genome and predicted coding regions that have facilitated the emergence of high-throughput genomic and proteomic technologies. A number of mature platforms exist…
Key Points Solid-tissue (predominantly epithelial cell) tumors are mainly caused by genetic lesions of three types: deletion or inactivation of tumor suppressor genes, mutation in or overexpression of oncogenes (i.e., genes encoding proteins that are vital in control of the…
Key Points General considerations in the diagnosis, classification, prognosis, and monitoring of hematolymphoid disorders Summary of the major genetic abnormalities and molecular detection methods in chronic and acute myeloid neoplasms. Basis of lymphoid antigen receptor gene rearrangements and molecular techniques…
Key Points As a result of the vast progress that has been made very recently in sequencing the entire human genome and in illuminating pathways that are involved in tumorigenesis, it has become clear that the malfunctioning of mutant proteins…
Key Points This chapter discusses the use of proteins, whose serum levels are often elevated in patients with malignancies, in the diagnosis and management of cancer. Many of these are so-called oncofetal antigens —that is, proteins that are expressed in…
KEY POINTS High-throughput array technologies such as genomics and proteomics have provided unprecedented ability to personalize output of biomarkers implicated in select disease states. Pharmacogenomics, through utilization of novel technologies, can detect unique genomic alterations to serve as diagnostic, prognostic,…
Key Points Standardized marker systems are used in testing panels to generate allelic phenotypes; short tandem repeats (STRs) form the basis of commercially available kits. Forensic testing requires documentation of all steps taken during collection, extraction, and testing so results…
Key Points Genome-wide association studies (GWAS) on neuropsychiatric disorders have been expanding to increasingly large populations and are now including multiethnic groups. These studies are aimed at identifying specific single nucleotide polymorphisms (SNPs) that may be associated with specific diseases…