Thrombophilia as a multigenic disease. (1/677)

BACKGROUND AND OBJECTIVE: Venous thrombosis is a common disease annually affecting 1 in 1000 individuals. The multifactorial nature of the disease is illustrated by the frequent identification of one or more predisposing genetic and/or environmental risk factors in thrombosis patients. Most of the genetic defects known today affect the function of the natural anticoagulant pathways and in particular the protein C system. This presentation focuses on the importance of the genetic factors in the pathogenesis of inherited thrombophilia with particular emphasis on those defects which affect the protein C system. INFORMATION SOURCES: Published results in articles covered by the Medline database have been integrated with our original studies in the field of thrombophilia. STATE OF THE ART AND PERSPECTIVES: The risk of venous thrombosis is increased when the hemostatic balance between pro- and anti-coagulant forces is shifted in favor of coagulation. When this is caused by an inherited defect, the resulting hypercoagulable state is a lifelong risk factor for thrombosis. Resistance to activated protein C (APC resistance) is the most common inherited hypercoagulable state found to be associated with venous thrombosis. It is caused by a single point mutation in the factor V (FV) gene, which predicts the substitution of Arg506 with a Gln. Arg506 is one of three APC-cleavage sites and the mutation results in the loss of this APC-cleavage site. The mutation is only found in Caucasians but the prevalence of the mutant FV allele (FV:Q506) varies between countries. It is found to be highly prevalent (up to 15%) in Scandinavian populations, in areas with high incidence of thrombosis. FV:Q506 is associated with a 5-10-fold increased risk of thrombosis and is found in 20-60% of Caucasian patients with thrombosis. The second most common inherited risk factor for thrombosis is a point mutation (G20210A) in the 3' untranslated region of the prothrombin gene. This mutation is present in approximately 2% of healthy individuals and in 6-7% of thrombosis patients, suggesting it to be a mild risk factor of thrombosis. Other less common genetic risk factors for thrombosis are the deficiencies of natural anticoagulant proteins such as antithrombin, protein C or protein S. Such defects are present in less than 1% of healthy individuals and together they account for 5-10% of genetic defects found in patients with venous thrombosis. Owing to the high prevalence of inherited APC resistance (FV:Q506) and of the G20210A mutation in the prothrombin gene, combinations of genetic defects are relatively common in the general population. As each genetic defect is an independent risk factor for thrombosis, individuals with multiple defects have a highly increased risk of thrombosis. As a consequence, multiple defects are often found in patients with thrombosis.  (+info)

Feasibility of monitoring patient based health outcomes in a routine hospital setting. (2/677)

OBJECTIVE: To assess the feasibility of monitoring health outcomes in a routine hospital setting and the value of feedback of outcomes data to clinicians by using the SF 36 health survey questionnaire. DESIGN: Administration of the questionnaire at baseline and three months, with analysis and interpretation of health status data after adjustments for sociodemographic variables and in conjunction with clinical data. Exploration of usefulness of outcomes data to clinicians through feedback discussion sessions and by an evaluation questionnaire. SETTING: One gastroenterology outpatient department in Aberdeen Royal Hospitals Trust, Scotland. PATIENTS: All (573) patients attending the department during one month (April 1993). MAIN MEASURES: Ability to obtain patient based outcomes data and requisite clinical information and feed it back to the clinicians in a useful and accessible form. RESULTS: Questionnaires were completed by 542 (95%) patients at baseline and 450 (87%) patients at follow up. Baseline health status data and health outcomes data for the eight different aspects of health were analysed for individual patients, key groups of patients, and the total recruited patient population. Significant differences were shown between patients and the general population and between different groups of patients, and in health status over time. After adjustment for differences in sociodemography and main diagnosis patients with particularly poor scores were identified and discussed. Clinicians judged that this type of assessment could be useful for individual patients if the results were available at the time of consultation or for a well defined group of patients if used as part of a clinical trial. CONCLUSIONS: Monitoring routine outcomes is feasible and instruments to achieve this, such as the SF 36 questionnaire, have potential value in an outpatient setting. IMPLICATIONS: If data on outcomes are to provide a basis for clinical and managerial decision making, information systems will be required to collect, analyse, interpret, and feed it back regularly and in good time.  (+info)

A cost comparison of approaches to sexually transmitted disease treatment in Malawi. (3/677)

Since syndromic management of STDs requires treatment with at least two antibiotics per patient, one of the concerns raised by adoption of the syndromic approach is the cost of drugs, especially for developing countries with limited drug budgets. The objective of the current study is to compare the cost-effectiveness of syndromic management to current national practice for the management of STDs in Malawi. The actual cost of observed antibiotic treatment for 144 patients receiving same day treatment for two STD syndromes in Malawi was determined using prices from the Malawi government supply catalogue. This was then compared to the calculated cost of treatment had the same patients been managed syndromically according to national guidelines. The cost of drug treatment under current practice was similar to the cost of syndromic treatment. However, at least one-third of observed patients did not receive effective treatment for either likely cause of their STD syndrome and wastage accounted for 54% of total observed drug cost. Overall, syndromic management of STDs in Malawi would result in more effective treatment of STDs at no additional cost. Since the indirect costs of low treatment efficacy were not taken into account in this analysis, a net saving is likely to be realized with the adoption of syndromic management.  (+info)

Identification and case management in an HMO of patients at risk of preterm labor. (4/677)

We carried out a study of pregnant patients in a health maintenance organization to identify and provide case management of women at risk of preterm labor and to determine important risk factors for preterm labor in a managed care population. Data were collected on 794 women who completed an initial prenatal care visit at HealthAmerica of Pittsburgh between July 15, 1994, and March 31, 1995, and delivered at a local Pittsburgh hospital. The patients were assessed during an initial call to schedule their first prenatal visit and also at the 8- to 15-week and 24- to 28-week prenatal visits. Patients scoring 10 or higher on the risk assessment form were referred to a nurse case manager who provided education and support. Results of a logistic regression analysis suggest that the risk assessment tool was effective in identifying women at risk for preterm labor. "Physical/stressful work", as assessed by the patient, history of a prior preterm birth, and multiple gestation were all statistically significant predictors of preterm birth. Further research is needed to confirm the finding that physical or stressful work is a significant predictor of preterm births and to determine which aspects of the work may increase the patient's risk. This study was based on 8 months of data; however, additional program implementation is needed to evaluate fully the potential long-term benefits of the program.  (+info)

Identification and assessment of high-risk seniors. HMO Workgroup on Care Management. (5/677)

CONTEXT: Many older adults with chronic illnesses and multidimensional needs are at high risk of adverse health outcomes, poor quality of life, and heavy use of health-related services. Modern proactive care of older populations includes identification of such high-risk individuals, assessment of their health-related needs, and interventions designed both to meet those needs and to prevent undesirable outcomes. OBJECTIVE: This paper outlines an approach to the tasks of identifying and assessing high-risk seniors. Intervention identification of high-risk seniors (also called case finding) is accomplished through a combination of periodic screening, recognition of high-risk seniors by clinicians, and analysis of administrative databases. Once identified, potentially high-risk individuals undergo on initial assessment in eight domains: cognition, medical conditions, medications, access to care, functional status, social situation, nutrition, and emotional status. The initial assessment is accomplished in a 30- to 45-minute interview conducted by a skilled professional--usually one with a background in nursing. The data are used to link some high-risk persons with appropriate services and to identify others who require more detailed assessments. Detailed assessment is often performed by interdisciplinary teams of various compositions and methods of operation, depending on local circumstances. CONCLUSION: The rapid growth in Medicare managed care is presenting many opportunities for developing more effective strategies for the proactive care for older populations. Identification and assessment of high-risk individuals are important initial steps in this process, paving the way for testing of interventions designed to reduce adverse health consequences and to improve the quality of life.  (+info)

Syndromic management of sexually transmitted diseases: is it rational or scientific? (6/677)

Control of sexually transmitted diseases improves the reproductive and sexual health of afflicted individuals and lowers the community burden of HIV. Preventing STDs or their complications requires health education, condom promotion and effective case management. Clinical diagnosis is frequently incorrect while laboratory-confirmed aetiological diagnosis is expensive. In resource-poor countries which lack trained personnel and laboratory facilities, syndromic management remains a rational approach to STD care. Although the approach is simplistic in design, its successful implementation requires regular monitoring and evaluation of protocols as well as supervision and training of clinicians.  (+info)

Renal assessment practices and the effect of nurse case management of health maintenance organization patients with diabetes. (7/677)

OBJECTIVE: To examine baseline renal screening practices and the effect of nurse case management of patients with diabetes in a group model health maintenance organization (HMO). RESEARCH DESIGN AND METHODS: We performed both 1-year retrospective and 1-year prospective studies of renal assessment practices and ACE inhibitor usage in a cohort of 133 diabetic patients enrolled in a randomized controlled trial of a diabetes nurse case management program in a group model HMO. In accordance with American Diabetes Association recommendations, urine dipstick and quantitative protein and microalbuminuria testing rates were calculated. RESULTS: At baseline, 77% of patients were screened for proteinuria with dipsticks or had quantitative urine testing. Of patients with negative dipstick findings, 30% had appropriate quantitative protein or microalbumin follow-up at baseline. Baseline ACE inhibitor usage was associated with decreased follow-up testing (relative risk = 0.47). Nurse case management was associated with increased quantitative protein or or microalbumin testing and increased follow-up testing (relative risk = 1.65 and 1.60, respectively). CONCLUSIONS: We found a higher degree of adherence to recommendations for renal testing than has been reported previously. Nurse case management intervention further increased renal screening rates. The inverse association between ACE inhibitor usage and microalbumin testing highlights a potentially ambiguous area of current clinical pathways.  (+info)

How ready are health plans for Medicare? (8/677)

CONTEXT: The Medicare program is encouraging its beneficiaries to enroll in capitated health plans. OBJECTIVE: To determine how prepared these plans are to handle chronically ill and frail elderly persons. DESIGN: Telephone survey of 28 health plans that together serve about one fourth of all enrollees of the Medicare Risk program. MEASURES: The degree of readiness (high, intermediate, or low) of health plans in seven domains that experts believe are important to the management of an elderly population. RESULTS: None of the 28 health plans had high readiness scores for all seven domains. The two domains for which the plans were most prepared were risk assessment and member self-care. The plans were least prepared for the domains of cooperative team care and geriatric consultations. CONCLUSIONS: Many plans do not offer the programs that experts believe are important for Medicare enrollees. They may hesitate to adopt strategies that lack data on effectiveness.  (+info)