... and interpreting genetic counseling and testing information; supporting families when they are receiving counseling and making decisions; recognizing the possibility of a genetic component in ... Genetic Disorders Showing X-Linked Recessive Inheritance Major Characteristics of X-Linked Dominant Inheritance and Disorders Selected Genetic Disorders Showing X-Linked Dominant Inheritance Major ... Presenting Signs and Symptoms of Cystic Fibrosis in Various Age Groups Selected Minor/Moderate Clinical Findings Suggesting Genetic Disorders Components of Genetic Counseling Considerations in Planning...
... appropriately inpractice Becoming competent in the use of genetic content begins in nursing education programs It was with this in mind that this book, The Essentials of Clinical Genetics in Nursing Practice, ... genetics Developing an individualized plan of care Reinforcing and interpreting genetic counseling and testing information Supporting families when they are receiving counseling and making decisions ... Using these understandings to develop new therapeutic approaches to disease; Investigating how genetic risk information is conveyed inclinical practice, including how it influences health behaviors...
... classified, enhancing our understanding of pathophysiology, providing practical information concerning drug metabolism and therapeutic responses, and allowing for individualized screening and health ... scientific advances in genetic medicine have outpaced the translation of these discoveries into standards of clinical care Common Adult-Onset Genetic Disorders Multifactorial Inheritance The risk for ... also influence the severity of infirmity, effect of treatment, and progression of disease The primary care clinician is now faced with the role of recognizing and counseling patients...
... underscoring the importance of family history for these prevalent disorders Pending further advances in genetic testing, the key to assessing the inherited risk for common adult-onset diseases rests in ... documented in the pedigree include the presence or absence of nonhereditary risk factors among those affected with diseases, and the finding of multiple diseases in an individual patient For instance, ... relatives, including grandparents When pedigrees appear to suggest an inherited disease, they should be extended to include additional family members The determination of risk for an asymptomatic individual...
... before initiating genetic testing is to ensure that the correct clinical diagnosis has been made, whether based on family history, characteristic physical findings, or biochemical testing Careful clinical ... pedigree obtained in such families may not exhibit a clear Mendelian inheritance pattern, as not all family members carrying the disease-associated alleles will manifest a clinical disorder ... physical findings, or biochemical testing Careful clinical assessment can define the phenotype, thereby preventing unnecessary testing and directing testing toward the most probable candidate genes...
... disorder In addition to molecular testing for established disease, genetic testing for susceptibility to chronic disease is being increasingly integrated into the practice of medicineIn most ... blotting (Chap 63) Protein truncation tests (PTTs) are used to detect mutations that result in the premature termination of a polypeptide occurring during protein synthesis In this assay, the isolated ... transmission, clinical course, and treatment may differ significantly, depending on the specific gene affected In these cases, the choice of which genes to test is often determined by unique clinical...
... 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 hand, testing should ... test results Informed consent should also include a discussion of the mechanics of testing Most molecular testing for hereditary disease involves DNA-based analysis of peripheral blood In the majority ... documented mutations (Chap 345) Informed Consent When the issue of testing is addressed, patients should be strongly encouraged to involve other relatives in the decision-making process, as molecular...
... Genetic Counseling and Education Genetic counseling should be distinguished from genetic testing and screening, even though genetic counselors are often involved in issues related to testing Genetic ... 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— ... intervention or when an intervention is considered experimental For example, nondirective genetic counseling is employed when a person is deciding whether to undergo genetic testing for Huntington's...
... intensive clinical screening, as it remains very challenging to predict disease penetrance, expression, or clinical course Although genetic diagnosis of these and other disorders is only beginning ... permits individualized drug therapy, resulting in improved treatment outcomes, reduced toxicities, and more cost-effective pharmaceutical care Examples include succinylcholine sensitivity, thiopurine ... 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 can reduce morbidity and mortality...
... Integrative Pain Medicine Contemporary Pain Medicine Integrative Pain Medicine: The Science and Practice of Complementary and Alternative Medicinein Pain Management Series ... may be helpful in integrative pain management From: Contemporary Pain Medicine: Integrative Pain Medicine: The Science and Practice of Complementary and Alternative Medicinein Pain Management ... our survival Rather than think of From: Contemporary Pain Medicine: Integrative Pain Medicine: The Science and Practice of Complementary and Alternative Medicinein Pain Management Edited by: J...
... involves skill inclinical decision-making The first goal of this chapter is to provide an introduction to the study of clinical reasoning Equally bewildering to the student ... available to assist inclinical decision-making will also be discussed Evidence-based medicine is the term used to describe the integration of the best available research evidence with clinical judgment ... experience in the care of patients The third goal of this chapter is to provide a brief overview of some of the tools of evidence-based medicineClinical Decision-Making Clinical Reasoning The most...
... of the sort encountered daily inclinical medicine, with great efficiency Clinicians rely on three basic types of heuristics When assessing a particular patient, clinicians often weigh the probability ... the patterns most prevalent inclinical medicine, must work much harder to achieve the same result and is often at risk of missing the important clinical problem in a sea of compulsively collected ... therefore more influential on clinical judgments The third commonly used cognitive shortcut, the anchoring heuristic, involves estimating a probability by starting from a familiar point (the anchor)...
... make teaching diagnostic reasoning difficult is that expert clinicians not follow a fixed pattern in patient examinations From the outset, they are generating, refining, and discarding diagnostic ... the examiner to the exclusion of all other inputs until answered, allowing the examiner to move on to the next specific question Negative findings are often as important as positive ones in establishing ... focused examination using the URI assessment protocol rather than considering the full range of possibilities and performing appropriate tests to confirm or refute his initial hypotheses In particular,...
... drugs (including dosages and side effects), and are less likely to overreact to foreseeable problems in therapy such as a rise in creatinine levels or symptomatic hypotension Other intriguing research ... achieve target angiotensinconverting enzyme (ACE) inhibitor therapy in their heart failure patients because they are more familiar with what the targets are (as defined by large clinical trials), have ... gastroenterologists lagged behind (a conservative practice style, associated in this case with older physicians) As a group, internists lagged several years behind gastroenterologists The opinion of influential...
... assist in making clinical decisions in the presence of uncertainty are reviewed Quantitative Methods to Aid Clinical Decision-Making The process of medical decision-making can be divided into two ... patients In summary, expert clinical decision-making can be appreciated as a complex interplay between cognitive devices used to simplify large amounts of complex information interacting with ... (1) defining the available courses of action and estimating the likely outcomes with each, and (2) assessing the desirability of the outcomes The former task involves integrating key information...
... response in a treadmill exercise test) to the exclusion of other potentially relevant data In addition, ROC area comparisons not simulate the way test information is actually used inclinicalpractice ... quantitative measure of the information content of a test Values range from 0.5 (no diagnostic information at all, test is equivalent to flipping a coin) to 1.0 (perfect test) In the testing literature, ... the confidence in a diagnosis before the test is performed In the absence of more relevant information, it is usually estimated from the prevalence of the disease in the underlying population...
... times more likely in a patient with the disease than in a patient without it Most tests inmedicine have likelihood ratios for a positive result between ... the finding of a reversible exercise-induced perfusion defect has both a sensitivity and specificity of 90%, yielding a likelihood ratio for a positive test of 9.0 [0.90/(1 – 0.90)] If we again ... to change management In fact, the test has moved us from being fairly certain that the patient did not have CAD to being completely undecided (a 50:50 chance of disease) In a patient with a pretest...
... particularly in correcting drug dosing and in promoting adherence to guidelines The full impact of these approaches will only be evaluable when computers are fully integrated into medical practice ... of HIV infection and the prevalence and incidence of HIV infection in the population targeted This model, which required over 75 separate data points, provides novel insights into a clinical ... such as practice guidelines, to guide clinicalpracticeIn general, however, decision support systems have shown little impact on practice Reminder systems, although not yet in widespread use, have...
... during the 1970s (the last time these patients were routinely treated with medicine alone) would be extremely misleading since the quality of "medical therapy" has made huge improvements in the ... treatment selection bias in the latter The underlying concept in the use of observational data to compare diagnostic or therapeutic strategies is that there is enough uncertainty inpractice that similar ... different physicians In short, the assumption is that there is an element of randomness (in the sense of disorder rather than in the formal statistical sense) to clinical management In such cases,...