Implications For Medical Practice Research Articles

Maternal phenylketonuria and hyperphenylalaninemia: Implications for medical practice in the United States

The risk of maternal phenylketonuria and hyperphenylalaninemia syndrome, a preventable cause of severe birth defects and retardation with a near 100% recurrence risk if untreated, is increasing in the United States. The reasons for this are reviewed. Women with hyperphenylalaninemia and those with phenylketonuria diagnosed and treated at birth are intellectually normal, as are some women with undiagnosed phenylketonuria. Both groups are at risk for maternal phenylketonuria syndrome in their offspring if blood phenylalanine levels are not controlled by diet during pregnancy. The problems and pitfalls of suspecting, diagnosing, and managing the condition are discussed. Suggested strategies for reversing the increasing trend include the greater use of genetic registers, increased clinical awareness, and some form of rescreening. The advantages and costs of rescreening a subset of pregnant women or all pregnant women at or before their first registration are examined.

Genetic Diagnosis: Implications for Medical Practice

Genetic diagnostic techniques increasingly permit the detection of predisposition to illness long before the onset of the disease process itself. Medicine is on the verge of becoming a predictive science as well as a diagnostic and therapeutic one. Genetic diagnosis could have profound effects on many aspects of our health care system, including the prestige and effectiveness of preventive medicine, the competitive behavior of health care organizations and insurance companies, access to private health insurance, the ability of primary care physicians to serve as gatekeepers, and other matters. This article examines the range of potential effects of the new genetic diagnostics on the organization and financing of health care. For purposes of illustration the authors examine in detail the possible consequences of genetic tests for predisposition to two diseases: Reye's Syndrome and lung cancer in smokers.

Genes, Syndromes, and Cancer

Children are not equally susceptible to cancer. Some are at high risk, as recognized clinically and epidemiologically. Laboratory studies of these children and their neoplasms have recently provided new understanding of human carcinogenesis, which would not have come from animal experimentation alone. Certain mechanisms are proving to be the same for a spectrum of cancers. Hence, from the study of rarities, generalizations are becoming apparent, and they have implications for medical practice. Clinicians have played an important role in this regard, because their observations have led to the recognition of high-risk groups. Sometimes a single case report starts an avalanche of productive research, as when Bruton1 first described congenital X-linked a-γ-globulinemia in 1952. When mechanisms are delineated, strategies can be developed for prevention, early diagnosis, and better treatment. The pediatrician in practice should know the characteristics that put children at high risk of cancer, so the parents can be advised of exposures to be avoided. This will enable the physician to adjust the frequency and nature of examinations to allow detection of neoplasia early when the prospect for cure is greatest. LEUKEMIA Disorders With Preesistent Chromosomal Aberrations Down Syndrome. In 1953 to 1955, individuals with Down syndrome were first noted to have a high frequency of leukemia. The observation was simple: three or four cases were identified within a short time on pediatric wards in Paris, North Carolina, and Minnesota.

Genes, syndromes, and cancer.

Children are not equally susceptible to cancer. Some are at high risk, as recognized clinically and epidemiologically. Laboratory studies of these children and their neoplasms have recently provided new understanding of human carcinogenesis, which would not have come from animal experimentation alone. Certain mechanisms are proving to be the same for a spectrum of cancers. Hence, from the study of rarities, generalizations are becoming apparent, and they have implications for medical practice. Clinicians have played an important role in this regard, because their observations have led to the recognition of high-risk groups. Sometimes a single case report starts an avalanche of productive research, as when Bruton1 first described congenital X-linked a-γ-globulinemia in 1952. When mechanisms are delineated, strategies can be developed for prevention, early diagnosis, and better treatment. The pediatrician in practice should know the characteristics that put children at high risk of cancer, so the parents can be advised of exposures to be avoided. This will enable the physician to adjust the frequency and nature of examinations to allow detection of neoplasia early when the prospect for cure is greatest. LEUKEMIA Disorders With Preesistent Chromosomal Aberrations Down Syndrome. In 1953 to 1955, individuals with Down syndrome were first noted to have a high frequency of leukemia. The observation was simple: three or four cases were identified within a short time on pediatric wards in Paris, North Carolina, and Minnesota.

Intervention for the prevention and control of hypertension and atherosclerotic diseases: United States and international experience

Intervention to control hypertension and prevent coronary heart disease was initially undertaken in the United States in the late 1950s. It was conducted along three lines: randomized controlled trials, community demonstration projects, and broad public health and medical care efforts involving both the general population and its high-risk strata. This article reviews findings from the United States trials, particularly those on the primary prevention of coronary heart disease by unifactorial means (such as fat-modified diet, serum cholesterol-lowering drugs, antihypertensive drug treatment) and by multifactorial interventions. Results of unifactorial and multi-factorial trials are discussed with reference to the prevention of high blood pressure. Studies in the United States are compared with research abroad, and current research needs are reviewed together with the implications for medical practice and public health. The United States population as a whole has a large high-risk segment. Since the late 1950s, significant population-wide changes have occurred in life-styles (diet, smoking, exercise habits), and this is especially true of the more educated. The proportion of persons with detected, treated, and controlled high blood pressure has risen markedly in all population strata. Consequently, a favorable shift has occurred in the population distribution of the major established risk factors: “rich” diet, hypercholesterolemia, high blood pressure, and cigarette smoking. It can be reasonably inferred that the steady and marked declines in death rates in the United States from coronary heart disease, stroke, all cardiovascular diseases, and all causes since 1968 are related to reductions in these risk factors.

Implications for medical practice of an acceptable concept of alcoholism

Implications for medical practice of an acceptable concept of alcoholism

The concept of the “health system” at the macrosociological level

The health system is defined as that aggragate of commitments or resources which any national society “invests” in the health concern, as distinguished from other concerns. The health system is viewed in a structural-functional perspective; it provides services to individuals whose role performance might be jeopardized by ill-health and it occupies a specific structural position in social space. The approach is also macrosociological, evolutionary or historical, dynamic, relevant, and comparative. It seeks to test the hypothesis of a “convergence” of the health system of industrial societies toward a fairly common pattern under the impact of certain types of universal constraints. Capacity to perform in social roles is the critical (though not exclusive) problematic of all social systems, and the health system attempts to cope with incapacity due to morbidity and premature mortality. Four cultural types of responses to illness (magical, religious, pastoral, and medical) are isolated, and their implications for medical practice are outlined. A detailed conceptualization of the health system presents, in sequence, the following questions: the functional problems to which the system addresses itself: the major modalities it uses to produce the Gross Medical Product of a society; the boundaries of the system; the major internal components of that system (services, specialized education and research); and the structural supports it requires from society (legitimacy-mandate; knowledge and techniques; personnel; and economic resources). This yields a formal definition: the health system is that societal mechanism that transforms generalized resources into specialized outputs in the form of health services. As such the system competes with other complementary systems for scarce inputs. The articulation of the system with these other systems and with society, and the internal structure of the health system are the important variables. A typology of health systems is proposed: pluralistic (as in the U.S.A.); insurance (as in France or Japan); health service (as in the United Kingdom); and socialized (as in the U.S.S.R. and Eastern Europe). This typology then opens the way to the question of decision and control over the health system, and the need to develop metrics in that area. Suggestions as to the principal types of metrics are given (growth, internal differentiation and convergence). The question of specialization is then examined as part of the differentiation process, as well as some of its implications for the provision of wellrounded health services (access and primary diagnosis, allocation and triage, comprehensiveness and continuity of care, orchestration and integration of care, emotional support and pastoral care). Some of the internal structural arrangements following differentiation are examined. The paper concludes on a series of ten issues arising from a comparative examination of modern health systems: (1) the mandate of the system; (2) primary care; (3) the limits of the demand for services; (4) the need for managerial logic in the health system; (5) the compensation of physicians; (6) the conflict between established values in medicine and demands for equal access to care; (7) the impact of bio-medical technology; (8) the issue of consumer control; (9) the need for flexibility in health systems (10) the integration of the members of the health team in modern medicine.

Utilization of physician assistants: some implications for medical practice.

Utilization of physician assistants: some implications for medical practice.

The Study of Illness Behaviour: Some Implications for Medical Practice

In recent years various investigators have become increasingly interested in the implications of patterns of illness behaviour for medical care. Very briefly, illness behaviour refers to the ways in which symptoms may be differentially perceived, evaluated, and acted upon (or not acted upon) by different kinds of persons.' Traditionally in medicine, evaluations of illness behaviour were made on an ethical basis.

Program of postgraduate medical education.

• The four-phase program of postgraduate medical education here described consisted of formal specialized courses at a medical school, informal seminars brought by a team of physicians to rural communities, early-morning open-circuit television programs, and audiovisual seminar kits. The intramural phase was easily evaluated in terms of attendance and direct expressions from the participants. It was one of the two most popular methods, and the most enthusiastic reception was given to courses on heart disease, on medicine in general practice, and on legal implications of medical practice. The three extramural phases were evaluated similarly, the telecast being followed by telephone interviews and mail questionnaires to measure the amount of information actually gained by the medical audience. The results showed that physicians can gain new medical information by these means and that they participate with enthusiasm in programs for continuing medical education.