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Genetic screening and ethics: European perspectives.

Analysis and comparison of genetic screening programs shows that the extent of development of programs varies widely across Europe. Regional variations are due not only to genetic disease patterns but also reflect the novelty of genetic services. In most countries, the focus for genetic screening programs has been pregnant women and newborn children. Newborn children are screened only for disorders which are treatable. Prenatal screening when provided is for conditions for which termination may be offered. The only population screening programs for adults are those for thalassaemia carrier status in Cyprus, Greece and Italy. Social responses to genetic screening range from acceptance to hostility. There is a fundamental tension between individual and community in the debates in various European countries about implementation of screening programs. Opposition to genetic screening is frequently expressed in terms of arguments about "eugenics" with insufficient regard to the meaning of the term and its implications. Only a few countries have introduced explicit legislation on genetic screening. Legislation to address discrimination may provide more safeguards than legislation protecting genetic information itself.

Adult↗

Autopsy recruitment program for African Americans.

A specialized brain autopsy recruitment program was implemented within the context of advance medical directives and end-of-life treatment decisions. The program was implemented within the framework of a larger study. The purpose of the program was to (1) improve the rate of consent for brain autopsy among African Americans diagnosed with stroke and dementia, and (2) obtain more empirical information on the underlying reasons for the low response rate (4%) in this minority group. A convenience sample of 133 patient and family caregiver pairs was selected for participation. Face-to-face, open-ended interviews were conducted to ascertain reasons for autopsy preferences and to identify respondents interested in the postmortem procedure. Preferences for brain autopsy were ascertained and individuals interested in the procedure were subsequently followed through death or over the 2 1/2 year course of the study. Brain necropsies were conducted on patients requesting the examination. Thirty-six (36) patient and family pairs consented to the procedure, 16 were indecisive and 81 refused. Factors influencing decisions included existing attitudes toward autopsy, family agreement regarding the procedure, and assurance that funeral arrangements would not be delayed. Ninety deaths and two autopsies were conducted before implementation of the specialized recruitment program, yielding a 2.22% completion rate, and 34 deaths with 10 postmortems conducted within the time frame of the recruitment study, yielding a 29% autopsy completion rate. Fisher exact test (p < 0.0001) revealed a significant difference in the proportion of autopsies completed before and after implementation of the specialized recruitment program. Findings strongly suggest that culturally sensitive recruitment programs may increase the rate of autopsy request made by African American caregivers for relatives diagnosed with dementia and stroke. To obtain a higher rate of consent than that obtained in the general population, the program must contain ethnically sensitive recruitment strategies.

Black or African American↗

[Effects of a municipal immunization program on the vaccination coverage in a school population].

We report the results of a Municipal Immunisation Program in a industrial community. These results were evaluated through the School Health Program. Our immunisation policies resulted in a substantial increase of immunity covering with particular impact on the less wealthy social layers. Immunity rats rose from 32% to 71% of the population. We conclude that our program is an adequate policy for control of infection diseases.

Adolescent↗

A component analysis of recent fertility decline in singapore.

To aid in achieving demographic goals, since 1968 the government of Singapore has passed a series of laws designed to limit family size. Policies were instituted in 1968 to discourage couples from having more than three children; policies introduced in 1973 discouraged having more than two. Trends in fertility rates and in the numbers of abortions and sterilizations in recent years are consistent with the intent of these social policies. Decline in third and subsequent births was the most important factor in fertility decline after 1972, and the numbers of abortions and sterilizations undergone by higher parity women have increased substantially sin"e 1970. Although other factors have affected fertility in Singapore, the data suggest that the disincentives have played a role in continued fertility decline in recent years.

Abortion, Legal↗

Long-term body weight fluctuation in an overweight population.

Weight loss programs report such low percentages of overweight subjects who lose weight and maintain the loss that the concern arises whether these results represent anything more than baseline population weight fluctuations. In this study, weights recorded for medical purposes at two clinic visits separated by intervals of 1 to 5 years were analysed for 332 adult patients who were initially at least 20 percent over their ideal body weight. Weight change calculations for this general patient population revealed that 219 (66 percent) had increased in weight by a mean of 5.7 kg, and that 113 (34 percent) had decreased in weight by a mean of 5.3 kg. The 59 patients measured over a 5-year interval showed an 'apparent body weight loss' for 31 percent of this sub-group with a mean decrease of 7.3 kg. Weight loss studies and programs must demonstrate a rate of weight loss maintenance beyond that of a control group before attributing 'weight loss' in a population to any factor other than normal weight fluctuation.

Adult↗

The implications for information system design of how health care costs are determined.

As the costs of health care assume increasing importance in national health policy, information systems will be required to supply better information about how costs are generated and how resources are distributed. Costs, as determined by accounting systems, often are inadequate for policy analysis because they represent resources consumed (expenditures) to produce given outputs but do not measure forgone alternative uses of the resources (opportunity costs). To accommodate cost studies at the program level and the system level, relational information systems must be developed that allow costs to be summed across individuals to determine an organization's costs, across providers to determine an individual patient's costs, and across both to determine system and population costs. Program level studies require that cost variables be grouped into variable costs that are tied to changes in volume of output and fixed costs that are allocated rationally. Data sources for program-level analyses are organizational financial statements, cost center accounting records, Medicare cost reports, American Hospital Association surveys, and the Department of Veterans Affairs (VA) cost distribution files. System-level studies are performed to predict future costs and to compare costs of alternative modes of treatment. System-level analyses aggregate all costs associated with individuals to produce population-based costs. Data sources for system-level analyses include insurance claims;n Medicare files; hospital billing records; and VA inpatient, outpatient, and management databases. Future cost studies will require the assessment of costs from all providers, regardless of organizational membership status, for all individuals in defined populations.

Accounting↗

Dynamics of dog and cat populations in a community.

OBJECTIVE: To describe dynamics of the pet dog and cat populations in a single community in terms of reproductive patterns and turnover. DESIGN: Cross-sectional, random-digit dial telephone survey. SAMPLE POPULATION: Information gathered from 1,272 households in St Joseph County, Ind that owned a dog or cat between Dec 1, 1993 and Nov 30, 1994 was compared with data on 9,571 dogs and cats received by the Humane Society of St Joseph County during the same period. RESULTS: Prevalence of pet ownership was lower than expected, compared with consumer panel surveys. Eight hundred forty-three of 1,335 (63.1%) dogs were neutered, compared with 816 of 1,023 (79.8%) cats. Cost was cited as a reason that 35 of 441 (7.9%) dogs and 34 of 132 (25.8%) cats were not neutered. Only 33 of 968 (3.4%) dog-owning households reported that their dog had had a litter during the past year, whereas 52 of 662 (7.9%) cat-owning households reported their cat had had a litter of kittens. Most cat litters were unplanned, whereas two thirds of dog litters were planned. Annual turnover in owned pets was 191 of 1,354 (14.1%) dogs and 194 of 1,056 (18.4%) cats. Pet owners underreported relinquishing pets to a shelter in the telephone survey. CLINICAL IMPLICATIONS: A combination of animal shelter- and human population-based data are needed to describe pet population dynamics in a community. Information about species-specific reproductive patterns is essential in designing population control programs.

Animal Welfare↗

Screening and biochemical characterization of transthyretin variants in the Portuguese population.

The study of pathogenic and nonpathogenic transthyretin (TTR) variants is very important for the understanding of such TTR-related diseases as hereditary amyloidosis and also to establish a relationship between the structure and function of the molecule. Variants with clinical manifestations can be easily detected, but clinically silent variants can be detected only by population screening programs using specialized techniques. Hybrid isoelectric focusing (HIEF) in extremely flattened immobilized pH gradients (IPG) allows the detection of even neutral amino acid substitutions and has been used to analyze approximately 5,000 samples from the Portuguese population. Comparison with samples from carriers of three known TTR mutations (Met 30 associated with hereditary amyloidosis, Met 119, and Asn 90) was also made. In this study we detected: (1) 8 individuals carriers of TTR Met 30, (2) 35 carriers of TTR Met 119, (3) 12 carriers of TTR Asn 90, (4) 1 compound heterozygote for TTR Met 30/Met 119, and (5) 5 variants that presented a different pattern from the controls used. We also performed DNA sequencing analyses of two of the variants with the different band pattern in HIEF. The individuals were found to be carriers of TTR Ile 122 and TTR Thr 190, respectively. All the mutations detected, except for Asn 90, result from substitutions in CpG hot spots and thus can be rather frequent in the populations. Studies on the clinical evolution of the compound heterozygotes and on the physical-chemical properties of these hybrid TTRs will help to understand the pathogenicity associated with TTR.

Amyloidosis↗

A computer program for modeling the kinetics of gene expression.

Enzyme induction may be modeled on the basis of four, quantifiable processes that control the rates at which specific gene products accumulate and decay. These processes include synthesis of functional mRNA, translation and degradation of mRNA, and degradation of the protein product. We present a simple computer program that permits mathematical simulation of gene expression on the basis of experimentally determined rates of synthesis and degradation. The program was implemented as a spreadsheet using Microsoft Excel for Macintosh and MS-DOS operating systems and also was adapted for HyperCard on the Macintosh. It contains a formula to account for growth of tissue or cell populations. The program predicts amounts of individual mRNAs and proteins (or enzyme activities) in cells as a function of time after a stimulus alters their rates of synthesis or degradation.

Animals↗

Population and family planning in China.

As the most populous country of the world, China pursues an integrated programme for socio-economic development with family planning as a vital part of it. The aim is to ensure that population growth does not outpace the economic development, the availability of natural resources and environmental protection efforts. Current policy on family planning includes: the promotion of late marriage and deferred child bearing, advocating the practice of "one couple, one child", to encourage birth spacing for those who want a second child. Technical guidelines are: contraception as the priority; comprehensive use of various contraceptive methods in men and women; induced abortion allowed on request if no contraindications; state provided contraceptives, barrier devices and technical services. The birth rate of 33.34/1000, death rate of 7.6/1000 and natural increase rate of 25.83/1000 in 1970 was brought down to 21.04/1000, 6.7/1000 and 14.26/1000 respectively in 1985. A total fertility for 1950 of 5.87 was gradually brought down to 2.31 in 1990. 260 million births were averted between 1970-1991; the world's "5-billion population day" was postponed for 2 years and Asian "3-billion population day" was postponed for 3 years. The State Family Planning Commission under the State Council was set up in 1981. The China Family Planning Association, the China Population Association and non-governmental organisations promote family planning work in a coordinated way. The current family planning policy is now well accepted in the urban area, and gaining increasing momentum in the rural area. Persistant education is still important to break the millennia old tradition of having more children and more boys.

Aging↗

Screening for colorectal cancer: current status in Japan.

PURPOSE: Screening for colorectal cancer using a guaiac-based fecal occult blood, or Hemoccult, test has been demonstrated to reduce colorectal cancer mortality. However, the magnitude of effectiveness is relatively low because of poor sensitivity of the Hemoccult test. The immunochemical fecal occult blood test has been shown to be much more sensitive than the Hemoccult test in detecting preclinical colorectal cancer in an asymptomatic population. The purpose of this article is to discuss the validity of the immunochemical fecal occult blood test and the efficacy of a population-based screening program using the test. METHODS: Relevant articles were primarily identified through MEDLINE search. Review was focused on the studies of population screening programs with the immunochemical fecal occult blood test. RESULTS: Sensitivities for colorectal cancer calculated in the same population were reported to be 67 to 89 percent and only 33 to 37 percent for the immunochemical test and Hemoccult test, respectively. Case-control studies and other observational studies showed that screening programs using the immunochemical fecal occult blood test by hemagglutination reaction would reduce the risk of dying of colorectal cancer by 60 percent or more for those screened annually compared with those unscreened. It was also shown that a screening strategy using the immunochemical fecal occult blood test had the best cost-effectiveness ratio among the methods available. Nearly 5 million persons are currently screened per year in Japan, yielding 0.15 to 0.2 percent colorectal cancer cases among persons with positive fecal occult blood test results. CONCLUSIONS: These results strongly suggest that a screening program with immunochemical fecal occult blood test has promising advantages in terms of effectiveness over programs with the Hemoccult test. More stress is warranted on introduction of immunochemical fecal occult blood testing as a screening test in place of the guaiac fecal occult blood test.

Colorectal Neoplasms↗

Plasma lipid distributions in selected North American populations: the Lipid Research Clinics Program Prevalence Study. The Lipid Research Clinics Program Epidemiology Committee.

Cross-sectional age- and sex-specific plasma lipid distributions (means, medians and selected percentiles) are given for 48,431 white participants in visit 1 of the Lipid Research Clinics (LRC) Prevalence Study. This study consisted of two visits in which 10 LRCs screened participants selected from well-defined North American target populations that included a broad range of sociodemographic subgroups. These data confirm findings from earlier studies in developed countries, showing age-related differences in plasma lipid levels. However, for overall distributions, the LRC data showed slightly lower cholesterol and markedly higher triglyceride values than those previously reported for North America. Some variation in plasma lipid values was evident among the clinic populations. The large number of participants within most subgroups permitted a variety of analytic and comparative studies. For example, data from the large pediatric population revealed a drop in plasma cholesterol levels in adolescent males and females. Males aged 20--50 years had higher cholesterol levels than females in the same age group, and higher triglyceride levels between ages 20--70 years. Numbers were also sufficient for meaningful comparisons between lipid distributions of females who were taking sex hormones and those who were not: In females taking sex hormones, cholesterol and triglyceride levels were higher for subjects younger than 45 years, but slightly lower after age 45, than lipid levels in females not taking hormones.

Adolescent↗

HIV roundtable. Strategies to enhance professional awareness and involvement, Part I.

Despite extensive public attention to the social and medical problems associated with HIV infection and AIDS, many clinicians remain largely uninvolved in public health and patient counseling programs aimed at preventing infection and getting patients into treatment. Suggestions to enhance professional involvement include improved schooling and continuing medical education; increased liaison and exchange of information among the various groups working with AIDS patients and at-risk populations; and programs to help clinicians confront their own feelings and concerns relating to AIDS.

Acquired Immunodeficiency Syndrome↗

HIV roundtable. Strategies to enhance professional awareness and involvement. Part II.

Despite extensive public attention to the social and medical problems associated with HIV infection and AIDS, many clinicians remain largely uninvolved in public health and patient counseling programs aimed at preventing infection and getting patients into treatment. Suggestions to enhance professional involvement include improved schooling and continuing medical education; increased liaison and exchange of information among the various groups working with AIDS patients and at-risk populations; and programs to help clinicians confront their own feelings and concerns relating to AIDS.

Community-Institutional Relations↗