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Sir Archibald Garrod concluded in the early 1900s that pre-disposition to disease is dependent on each individual’s chemi-cal composition (1). Beadle later described the one gene-one enzyme concept, which emphasized that biochemical processes are genetically controlled and that mutations in any given gene would result in a defective biochemical reaction (2). In 1953, Watson and Crick described for...
The diagnosis of inherited neurological and neuromuscular disorders relies on clinical features, natural history, and the mode of inheritance. Complex factors, however, often obscure the familial tendency of these diseases and many patients go undiagnosed or are confused with noninherited disorders. Histopathologic, imaging, and electrophysiologic testing help in the identification, understanding,...
The completion of the draft sequence of the human genome (1) promises advances in many areas of medicine, and endocrinology is no exception. Molecular diagnostic testing for RET proto-oncogene mutations has already revolutionized the management of multiple endocrine neoplasia type 2 (MEN2) and familial medullary thyroid cancer (FMTC). Other tests for genetic variation are beginning to impact the diagnosis...
This chapter summarizes the large volume of relatively recent work devoted to finding genetic polymorphisms that are linked to the development of cardiovascular disease (CVD) and acute coronary syndromes (ACS). These markers might become part of a panel of laboratory tests and clinical indicators that will be used for predicting future CVD risk. The medical literature is exploding in the last 10 yr...
Coagulation testing has evolved from the use of the manual tilt-tube clotting time in the early 1900’s to the use of molecular diagnostics today. Over the years, the measurement of a clot endpoint has been the basis of testing. Automated instruments have replaced the manual visual methods and allowed for precise measurements of the clot endpoint. In addition, immuno-logic and chromogenic methodology...
Cystic fibrosis (CF), a clinically heterogeneous disease, is the first genetic disease for which adult population screening has been initiated in the United States. Since the discovery of the CFTR gene in 1989, much has been learned about the pathophysiology and molecular genetics of this disorder. This review includes an overview of the genetics of CF, a discussion of pathophysiology, and clinical...
The genetic characterization of many blood antigen systems has enabled the development of molecular diagnostic assays capable of providing physicians with information that can greatly improve patient care. This technology, when applied to the field of obstetrics, is useful in identifying those fetuses at risk for immune cytopenic disorders. In these disorders, the mother lacks a genetic marker that...
As many of us can attest from personal experience, not everyone has the same response to any given medication. Some of us might find that a specific medication improves our symptoms, whereas others find that it does not. Some of us find that a given medication improves our symptoms, but we choose not to use it because it has untoward effects. The bases for such varied response to pharmacotherapies...
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