Chapter 064 The Practice of Genetics in Clinical Medicine (Part 4) potx
Chapter 064. The Practice of Genetics in Clinical Medicine (Part 4) potx
... to note that, for the majority of adult-onset, multifactorial genetic Chapter 064. The Practice of Genetics in Clinical Medicine (Part 4) Figure 64-2 disorders, testing is purely predictive. ... established disease, genetic testing for susceptibility to chronic disease is being increasingly integrated into the practice of medicine. In most cases, however, the discovery of disease-associated genes ... provided informed consent. In the majority of cases, genetic testing should be offered only to individuals with a suggestive personal or family medical history or in the context of a clinical...
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Chapter 064. The Practice of Genetics in Clinical Medicine (Part 3) potx
... because of her family history of cancer. Chapter 064. The Practice of Genetics in Clinical Medicine (Part 3) Recall of family history is often inaccurate. This is especially so when the history ... cancer, representing another confounding variable in the pedigree analysis. Some of the aforementioned features of the family history are illustrated in Fig. 64-1. In this example, the proband, ... found, then it is possible to test for this particular alteration in the proband and other family members, if they so desire. In the example shown, if the proband's father has the BRCA1...
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Chapter 064. The Practice of Genetics in Clinical Medicine (Part 1) pptx
... management of Chapter 064. The Practice of Genetics in Clinical Medicine (Part 1) Harrison's Internal Medicine > Chapter 64. The Practice of Genetics in Clinical Medicine Implications of ... though they may be seeing other specialists. The internist has an important role in educating patients about the indications, benefits, risks, and limitations of genetic testing in the management ... monozygotic twins ranges between 50 and 90%. Diabetes or impaired glucose tolerance occurs in 40% of siblings and in 30% of the offspring of an affected individual. Despite the fact that...
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Chapter 064. The Practice of Genetics in Clinical Medicine (Part 2) pptx
... individual will vary depending on the size of the pedigree, the number of unaffected relatives, and the types of diagnoses, as well as the ages of disease onset within the family. For example, ... the relative risk ranges from two- to fivefold, underscoring the importance of family history for these prevalent disorders. Pending further advances in genetic testing, the key to assessing ... significantly influencing the effectiveness of mass screening. Nevertheless, the individual who carries one of the less common cystic fibrosis–associated alterations will not benefit if testing is...
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Chapter 064. The Practice of Genetics in Clinical Medicine (Part 5) pptx
... undergoing the Chapter 064. The Practice of Genetics in Clinical Medicine (Part 5) Molecular analysis is generally more informative if testing is initiated in a symptomatic family member, since ... to the child. In addition, there is concern that testing during childhood violates a child's right to make an informed decision regarding testing upon reaching adulthood. On the other ... symptomatic family member, since the identification of a mutation can direct the testing of other at-risk family members (whether they are symptomatic or not). In the absence of additional familial or...
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Chapter 064. The Practice of Genetics in Clinical Medicine (Part 6) pot
... must ensure that the at-risk family members have access to the resources necessary to adhere to these recommendations. Chapter 064. The Practice of Genetics in Clinical Medicine (Part 6) Follow-Up ... Assist in determining the role of genetic testing for the individual and family; Ensure that the patient is aware of the indications, process, risks, benefits, and limitations of the various ... prevention. Finally, patients should understand the natural history of the disease as well as the potential options for intervention, including screening, prevention, and in certain circumstances—pharmacologic...
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Chapter 064. The Practice of Genetics in Clinical Medicine (Part 7) pdf
... Prevention of hypertension Prevention of urinary tract infections Kidney transplantation Nephrogenic XL, AR AVPR2, Fluid Chapter 064. The Practice of Genetics in Clinical Medicine (Part ... their way into the diagnosis and management of adult-onset disorders. Hereditary hemochromatosis illustrates many of the issues raised by the availability of genetic screening in the adult ... testing for presymptomatic diagnosis of the disorder. However, up to one-third of individuals who are homozygous for the HFE mutation do not have evidence of iron overload. Consequently, in the...
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Chapter 064. The Practice of Genetics in Clinical Medicine (Part 8) pot
... Chapter 064. The Practice of Genetics in Clinical Medicine (Part 8) Preventive measures and therapeutic interventions are not restricted to metabolic disorders. Identification of familial ... genetic diagnosis of these and other disorders is only beginning to be used in the clinical setting, predictive testing holds the promise of allowing earlier and more targeted interventions that ... the major impact of genetic testing in these cases is to allow more intensive clinical screening, as it remains very challenging to predict disease penetrance, expression, or clinical course....
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Chapter 067. Applications of Stem Cell Biology in Clinical Medicine (Part 4) pot
... Applications of Stem Cell Biology in Clinical Medicine (Part 4) Other Organ Systems and the Future The use of stem cells in regenerative medicine has been studied for many other organ systems ... help guard against the premature or inappropriate application stem cell therapies, and the inappropriate use of vulnerable population groups. On the other hand, these therapies offer important ... biology and their therapeutic applications in regenerative medicine and cancer therapies. Clin Pharmacol Ther 82(3):252, 2007 [PMID: 17671448] National Institutes of Health: Stem cell information...
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Chapter 003. Decision-Making in Clinical Medicine (Part 4) doc
... physicians in New Haven, despite there being no obvious differences in the health of the cities' inhabitants. The physicians in New Haven were not aware of using fewer hospital beds for their ... Other intriguing research has shown a wide distribution of acceptance times of antibiotic therapy for peptic ulcer disease following widespread dissemination of the "evidence" in the ... this role include the physician's knowledge, training, and experience. It is obvious that physicians cannot practice evidence-based medicine (EBM; described later in the chapter) if they are...
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