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Lipid Metabolism and Tay Sachs Disease

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The purpose of this research is twofold. First, an overview is provided of the physiology of the inborn error of lipid metabolism of TaySachs disease. Second, nursing interventions with respect to TaySachs disease considered within the framework of systems and stress theory.

TaySachs is a neurologic degenerative disease resulting from the abnormal storage of lipids (Nyhan, 1980). The mean age of diagnosis approximates eightandonehalf months, which is often up to three months after parents "first noticed that something was wrong" (Paritszk, 1985, p. 261). TaySachs disease results in both mental and motor retardation, and in death by ages twotofour years (Strickberger, 1976).

The common definition of a system is "an aggregate of elements considered together with the relationships holding among them" (Angyal, 1986, p. 20). In this sense, a system any be considered "as any entity, conceptual or physical, which consists of independent parts" (Ackoff, 1986, p. 332). Systems may be either closed or open. A closed system is one which "does not depend on its environment; it is autonomous, enclosed, and sealed off from the outside world. It has all the energy it needs, and can function without the consumption of external resources" (Daft, 1986, p. 10). By contrast, an open system is one which "must interact with its environment to survive; it both consumes resources and exports resources to the environment. It must continually chang

. . .
ng genetic disorders or birth defects (Williams, 1986). Adult carriers may opt to either remain unmarried, not have children, or to adopt children rather than risk the birth of a TaySachs child. Amniocentesis indicating the potential birth of a TaySachs child may result in parental decisions for abortion, as it is impossible, in such a situation, to guarantee that the child will be normal with respect to TaySachs disease. SYSTEMS THEORY, AND THE PATHOLOGICAL/ PHYSIOLOGICAL PROCESS As "an aggregate of elements considered together with the relationships holding among them" (Angyal, 1986, p. 20), a system may be considered "as any entity, conceptual or physical, which consists of independent parts" (Ackoff, 1986, p. 332). The nursing process is a conceptual system, in that the behavior of its parts may be measured and controlled. Behavior within such a system "consists of a set of interdependent acts which constitute an operation" (Ackoff, 1986, p. 332). Systems may be either closed or open. A closed system is one which "does not depend on its environment; it is autonomous, enclosed, and sealed off from the outside world. It has all the energy it needs, and can function wi
. . .

Some common words found in the essay are:
Schniderman Lowder, SUMMARY TaySachs, Kaplan Sadock, Vingerhoets Heck, PHYSIOLOGICAL PROCESS, , Behrman Vaughn, Katz Khan, Genetic Counseling, Langner Michael, taysachs disease, genetic counseling, taysachs child, strickberger 1976, paritsky 1985, parents taysachs, selye 1969, daft 1986, respect taysachs disease, systems theory, 1986 10, daft 1986 10, parents taysachs children, birth taysachs child, langner michael 1963,
Approximate Word count = 3617
Approximate Pages = 14 (250 words per page)

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