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At least 973 records · Page 54Linked to original sources
PubMed1994

High throughput and economical mutation detection and RFLP analysis using a minimethod for DNA preparation from whole blood and acrylamide gel electrophoresis.

We report a simple, rapid, and high throughput method which allows the simultaneous processing of multiple whole blood samples for routine DNA purification and analysis. The method is based on a microscale DNA preparation and digestion using minimal amounts of reagents and handling. The amount of material necessary for a Southern blot analysis (5-7 micrograms) is obtained from 200 microliters of whole blood. All steps involved in DNA preparation and restriction digestion are processed in a single 1.5-ml Eppendorf tube. DNA preparation is performed using a salting out procedure with a proteinase K digestion step but no phenol/chloroform extraction. Restricted fragments are separated by electrophoresis through polyacrylamide slab gels followed by electrotransfer to nylon membranes. By varying the electrophoresis parameters (V/cm or duration), fragments of interest up to 12 kb length can be separated with high resolution. At least 80 samples can be processed at once per DNA preparation, and multiples of this number depend on the available equipment. This economical and rapid method allows routine DNA analysis for mutation or RFLP detection to be performed on a large scale which is a mandatory feature in any DNA-based population screening program. In addition, the DNA purified by the minimethod can be used as an economical source for PCR analysis.

Blotting, Southern↗
PubMed2004

Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.

Sickle-cell and beta-thalassemia syndromes are priority genetic diseases for prevention programs involving population screening with the option of prenatal diagnosis for carrier couples. Preimplantation genetic diagnosis (PGD) represents a specialized alternative to prenatal diagnosis and is most appropriately used for couples with an unsuccessful reproductive history and/or undergoing assisted reproduction. However, clinical application of PGD has been hindered by difficulties in reliably transferring molecular diagnostic protocols to the single-cell level. We standardized and validated a protocol involving first-round multiplex PCR, amplifying the region of the beta-globin gene containing most of the common disease mutations world-wide and two unlinked microsatellite markers (GABRB3 and D13S314), followed by: 1) analysis of beta-globin genotypes with real-time PCR and 2) microsatellite sizing to exclude chance contamination. The protocol was standardized on 100 single lymphocytes from a beta-thalassemia heterozygote, including 15 artificially contaminated samples, the latter demonstrated through microsatellite analysis. PCR failure and allele drop-out (ADO) were observed in one (uncontaminated) sample each (1.2%). A pilot study in six clinical PGD cycles with five different beta-globin genotype interactions achieved results (in 5-6 hr) in 46 out of 50 single blastomeres (92%), all concordant with results from an established PGD method applied simultaneously; microsatellite analysis detected only parental alleles, excluding contamination. Beta-globin genotypes were also confirmed in two blastomeres through prenatal diagnosis (twin pregnancy), and in 11 out of 12 spare embryos, revealing one incident of ADO. Overall, the protocol proved to be sensitive, accurate, reliable, rapid, and applicable for many genotype interactions, with internal monitoring of contamination, thus fulfilling all requirements for clinical PGD application.

Anemia, Sickle Cell↗
PubMed1993

An analysis of a melanoma epidemic.

Between 1986 and 1988 the annual incidence of invasive melanoma in the Hunter area of New South Wales, Australia, almost doubled to 52.5 per 100,000 in men and 42.9 per 100,000 in women. These rates have been maintained and are similar to those reported for 1987 in Queensland, Australia, which are the highest in the world. Most of the increase in incidence was in melanomas less than 1.50 mm in thickness, and adults of both sexes and all ages were affected. Thicker melanomas also increased in incidence but only in adults 45 years and older, and mainly in men. An analysis of health insurance data on treatment of skin lesions and data from a histopathology laboratory suggested that diagnosis and treatment of skin lesions generally in the Hunter area had increased almost 2-fold over this period. Advancement of the time of diagnosis and a real increase in incidence were likely explanations for some of the observed trends. Increasing diagnosis of a non-metastasising form of thin melanoma, consequent upon increasing removal of pigmented skin lesions by medical practitioners, may also explain some of the observed increase in the incidence of the disease. This possibility has important implications for proposed population screening programs, and methods are needed to distinguish such lesions, if they exist, from potentially fatal melanoma.

Adult↗
PubMedDate not supplied

Cardiac rehabilitation in the elderly: improving effectiveness.

Heart disease is a major cause of mortality and morbidity among adults who are older than 65 years of age. One-third of cardiac operations on adults in the United States are performed on patients who are more than 65 years old, and almost half of the hospitalized candidates for an outpatient cardiac rehabilitation programs are in the older patient population. Structured educational program that include exercise and modification of risk factors have been shown to reduce the risk of subsequent coronary events; however, studies show that older adults enroll in these programs at a significantly lower rate than do patients in other age groups. Nurses and other healthcare professionals must eliminate barriers to participation and adapt their programs to meet the needs of older adults with cardiac disease to reduce morbidity, enhance functioning, and improve quality of life. In this article, the authors describe current knowledge about the efficacy and use of cardiac education and rehabilitation in elderly patients and suggest implications for future practice and research.

Age Factors↗
PubMed2003

Epidemiology of Varicella-Zoster Virus in England and Wales.

Many countries are studying currently the possibility of mass vaccination against varicella. The objective of this study was to provide a complete picture of the pre-vaccine epidemiology of the Varicella-Zoster Virus in England and Wales to aid in the design of immunisation programs. Population-based data including general practitioner sentinel surveillance, hospitalisation data, and death certificates from England and Wales were analysed. The average incidence rates for varicella and zoster between 1991 and 2000 were 1,291 and 373 per 100,000 years, respectively. Overall hospitalisation rates were equal for varicella and zoster (4.5 vs. 4.4 hospitalisation per 100,000 population) with 5 and 8%, respectively, having underlying immunosuppressive conditions. The age-specific proportion of cases hospitalised and length of stay were similar between the two diseases. However, the overall burden of disease is considerably higher for zoster. The number of inpatient days and case-fatality due to zoster are roughly 4 to 6 times greater than for varicella (11 vs. 3 days and 25 vs. 4 deaths per 100,000 case). These results provide base-line estimates should mass varicella vaccination be introduced in England and Wales.

Adolescent↗
PubMed1989

Kinetic and biochemical heterogeneity in vertebrate chondroepiphyseal regions during development.

The purpose of this study was to see if kinetic and biochemical heterogeneity could be documented in vertebrate chondroepiphyseal regions as they develop from mesenchymal condensations to cartilage. The kinetics of developing proximal and distal femoral chondroepiphyseal regions were studied from early limb bud stage to newborn animals in chicks, mice, and rabbits with thymidine autoradiography. Proteoglycan synthesis in the proximal femoral chondroepiphyseal region of the rabbit was studied with radioactive sulfate incorporation at 28 days of gestation and at 1 and 4 days after birth. The results indicated that these kinetic and biochemical characteristics of the developing chondroepiphyseal regions became heterogeneous very early in development. This early programming of populations of cells for division and for different biochemical functions existed during the fetal period when heterogeneity has been described histologically but has not been well documented.

Animals↗
PubMed2002

Estimating the prevalence of mental and somatic disorders in the community: aims and methods of the German National Health Interview and Examination Survey.

This paper outlines the principal aims and design of the German National Health Interview and Examination Survey, mental health supplement (GHS-MHS), the first nationwide, epidemiological study of both somatic and mental health in Germany on a representative sample of 4,181 subjects in the community. Both the broader context of the study--in particular its methodological relation to the social and somatic core survey of the German National Health Interview and Examination Survey (GHS-CS)--and the internal methodology of the mental health supplement (GHS-MHS) are presented. The study's strategies and method are derived from a consideration of important theoretical issues arising from epidemiological studies in the field of public health. The main instrument used to assess diagnoses of mental disorders was a standardized diagnostic interview for mental disorders (following DSM-IV (CIDI)) applied by clinically trained interviewers. This diagnostic interview was supplemented by modules on comorbidity, help seeking, treatment and impairment. Somatic health diagnoses were made using an integrated approach including self-report measures, a standardized clinical interview, and laboratory measures. Findings on sampling, response rate, weighting and sample characteristics are presented. Critical issues are discussed, including the scientific objectives that have been achieved by the study. Overall, the GHS core survey and its mental health supplement provide the mental health research community with complex data that allow for high-quality analysis of mental disorders and associations with somatic disorders.

Adolescent↗
PubMed1979

Social-ecological assessment of environments: toward a two-factor model.

A study was conducted to test the usefulness of the two-factor model in assessing social environments. Subjects were residents and staff at a residential treatment center for emotionally disturbed and/or delinquent boys and girls. Rating instruments consisted of (a) two parallel versions of Moos' Community-Oriented Programs Enivronment Scale (COPES), each worded so as to be appropriate to the setting being measured, and (b) global ratings of satisfaction with the environment. Principal component factor analyses, carried out separately on the youths' COPES-School and the youths' COPES-Cottage, yielded two orthogonal but similar factors in each environment. In a comparison with Moos' three-dimensional formulation of the social milieu, the two factors strongly resembled two of Moos' dimensions but were more independent, had greater validity, and discriminated between the two environments at a higher level of significance. The instruments derived from the factor analyses provide a simple procedure for assessing a variety of treatment programs and populations.

Adolescent↗
PubMed2005

[Infectious disease epidemiology education and training Programs. FETP and EPIET].

The German Field Epidemiology Training Programme (FETP) and the European Programme for Intervention Epidemiology Training (EPIET) were founded to develop a network of epidemiologists for the surveillance and control of communicable diseases. During their 2-year training, FETP or EPIET fellows are based at the Robert Koch-Institut or other European host institutes and have to conduct outbreak investigations, carry out surveillance and research projects and publish the results. Since 1995, all 22 FETP and 94 EPIET fellows have conducted and published numerous outbreak investigations, surveillance and research projects, for example on pathogens inducing salmonellosis, influenza, SARS or avian influenza. Currently, 70% of FETP and EPIET alumni are working in key positions in communicable disease control on a regional, national or international level. The German FETP and the European EPIET programme offer high quality practical training in applied epidemiology. The expert knowledge of the alumni of both training programmes will be incorporated into the new European Centre for Disease Control (ECDC) and determine the future direction of infectious disease epidemiology in Germany and Europe.

Communicable Disease Control↗
PubMed2005

Axial BMD, change in BMD and bone turnover do not predict breast cancer incidence in early postmenopausal women.

Previous studies have indicated a relationship between bone mineral density and the incidence of breast cancer in middle-aged and elderly women, with women with higher BMD being at significant increased risk. We investigated whether there was such a relationship in younger women who were perimenopausal or in their early postmenopausal years. As part of a population-screening program for osteoporosis, 5,119 women aged between 45 and 54 years were scanned between 1990-1994 at the Osteoporosis Research Unit. In 1997-2001, 3,884 returned for follow-up scans and questionnaires, and 3,144 returned a postal questionnaire in 2002. All cases of incident breast cancer were noted. One hundred sixty-six women indicated that they had suffered from breast cancer, of which 87 were incident cases (59 had prevalent breast cancer at baseline and 20 had benign or unconfirmed diagnosis and were excluded because of the use of agents that may interfere with BMD, e.g., tamoxifen). We compared therefore the incident breast cancer group (BC group; n=87) with a control group (C group; n=3,013). There were no significant differences using a t-test between the BC group and C group for baseline DXA of the spine or femoral neck. Further changes in BMD over a mean period of 6.9 years demonstrated no significant hazard ratio for the lumbar spine or femoral neck. No relationship was seen between the bone turnover markers pyridinoline/creatinine or deoxypyridinoline/creatinine assessed at their second study visit and incidence of breast cancer. In conclusion, in perimenopausal or early postmenopausal women there is no relationship between the incidence of breast cancer and BMD, change in BMD or bone turnover.

Biomarkers↗
PubMed2002

Seasonal changes in morphology and function of the gastrointestinal tract of free-living alpine marmots ( Marmota marmota).

The gastrointestinal tracts of 76 free-living alpine marmots ( Marmota marmota) shot during a population control program in Switzerland were collected and analysed for patterns of change in morphology and function over the period from emergence from hibernation in April to just before re-entry into hibernation in September. Between first emergence and mid-summer (July) the fresh tissue mass of the stomach increased by 105%, the small intestine by 259% (among the largest recorded for a mammal), caecum by 185%, proximal colon by 138%, and distal colon by 144%. Mitotic activity was greatest in the small intestine; the mitotic index was high (40%) compared with indexes in the stomach and hindgut (approximately 4%) even at emergence, and increased to approximately 60% by mid-summer. Microbial activity in the caecum was also significant at emergence. The stomach (length) and caecum (length and fresh mass) increased in response to ingested food earlier than did the small intestine. Between mid-summer and September there were decreases in small intestinal tissue mass and mitotic activity. It is concluded that the gastrointestinal tract of alpine marmots probably continues to function throughout hibernation at a low level, with a mid-winter trough as part of an endogenous circannual rhythm. However, after emergence in spring, increases in size and activity of the tract appear to be a response to ingested food rather than to an endogenous signal. The early signs of down-regulation of the small intestine before re-entry into hibernation, together with its delayed up-regulation in response to food in spring, are consistent with the high costs of maintaining this section of the digestive system.

Animals↗
PubMed2002

[Resource allocation and justice in distribution of services in medical management of elderly patients].

This paper presents the most important arguments in medical allocation based on an analysis of the relevant literature. The main arguments of rationing scarce medical resources are scrutinized. Especially the use of age limit considerations are critically reviewed. The discussion takes place against a backdrop of aggravating pressure on old people as cost factors. As a basis for further discussion, the authors give a brief history of theories of justice in philosophy. Finally minimum requirements for a constructive and responsible discussion are stated.

Aged↗
PubMed2002

[Managing patients with dementia--current status and formulating dementia policy desiderata and options ].

The demographic and epidemiological scenarios, concerning persons with dementia, are in tension between the legal general conditions of care, on the one hand, and the conceptual alignment, on the other hand; this tension is hardly resolved by the momentary activities in health and care policy. Even on the level of assessment, there are scarcely any instruments to picture the specific needs of patients with dementia. Concepts of supply for persons with dementia are widely still divided by the differentiation between stationary and outpatient. Intelligent mixtures and paradigmatic reorientation towards normalization or split responsibility have not yet enfolded their embossing effects in practice. The care of persons with dementia is in many respects still bound in pre-technical constellations: this applies to the conceptual bias inside an institution or service of old people's care, to legal and economical general conditions and instruments of control and in many ways also to the technical discourse. The relevancy of attendance of people with dementia today and in the future justifies talking about "dementia policy". Options for dementia policy lay in a consequent adaptation of the theory of the New Welfare Mix, which was developed by the political sciences, including discussion about normalization in the area of help for disabled people and in the reformulation of competence between the means of fringe benefits and employees' benefits in joint responsibility.

Aged↗
PubMed2002

[Promoting competition and improving quality. Accepting the intergenerational contract by stabilizing health care reform].

The challenge of demographic transition requires a health care reform which strengthens competition and quality in health care. With this, important contributions in stabilizing intergenerational relations, especially intergenerational solidarity in the public health care system, can be achieved. The reform proposal by an expert group, invited by the Friedrich-Ebert-Foundation to develop a concept of health care reform, takes these considerations into account.

Aged↗