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At least 991 records · Page 55Linked to original sources
PubMed1988

Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma.

Six families with retinoblastoma in more than one member were investigated with DNA markers linked to the retinoblastoma locus because direct analysis had not disclosed the gene defect. In all of the families we could identify the affected chromosome and predict the genetic risk with a high level of confidence (90 to 99%). In one patient the test helped to detect tumour development earlier than usually possible. Several subjects were found not to carry a mutation, thus obviating frequent ophthalmological examinations under anaesthesia as would be necessary otherwise. These results show that linkage analysis can be successfully applied to genetic counselling in families with hereditary retinoblastoma.

Adult↗
PubMed1981

Psychosocial impact of gynecologic cancer.

The stress that a cancer diagnosis places on a patient and family is frequently aggravated by management and treatment, unless considerable attention is paid to psychologic and social coping and adaptational issues. Cancer arouses feelings of helplessness, dependency, guilt, alienation, and vulnerability, and depending on the stage of illness and on the degree of therapeutic mutilation of genital organs, long-term suffering may ensue unless attention is paid to the support-systems available to the patient. Support includes information sharing, exploring fears and fantasies, helping patients feel some element of control, and, not infrequently, putting patients in touch with others who had adapted to the experience. Considerable attention is now being paid to sexual counseling in recognition of the need for intimate bonding that exists in people. The physician's responsibility in cancer management is to provide resource directly or by referral in order to maintain the morale system of the patient and family over a long time period.

Body Image↗
PubMed1994

Assessment of genetic polymorphisms in DNA from formalin fixed neurological tissues.

The ability to analyze the genotype of deceased affected members of pedigrees segregating inherited neurological diseases considerably augments the informativeness of such pedigrees. This information has direct application in attempts to isolate disease genes by positional cloning strategies, and for genetic counselling. We show that the genotype at polymorphic simple sequence repeat loci can be determined from genomic DNA isolated from 10 micron thick paraffin embedded, formalin fixed neurological tissues. The critical constraint on this method is the size of the template target bearing the simple sequence repeat, which should ideally be less than 165 base pairs.

Alzheimer Disease↗
PubMed1999

First-trimester cord entanglement in monoamniotic twins.

OBJECTIVE: Monoamniotic twinning occurs in only 1% of twin pregnancies, but carries a high perinatal mortality rate. Early and reliable diagnosis is essential if attempts are to be made to reduce the complication rate. We report color Doppler demonstration of cord entanglement in the first trimester, which is diagnostic of monoamnionicity. METHODS: Two patients with twin pregnancies were examined in the first trimester with pulsed and color Doppler insonation of their umbilical arteries. RESULTS: Cord entanglement was suspected and proved by demonstrating differing fetal heart rate patterns in the same direction on umbilical artery Doppler analysis of a common mass of cord vessels. Following appropriate counselling, medical amnioreduction was induced at 20 weeks of gestation to reduce fetal movements and worsening cord entanglement. Delivery was by elective Cesarean section at 32 weeks' gestation and monoamnionicity was confirmed. CONCLUSION: We report a new sign for the demonstration of monoamnionicity in twin pregnancies in the first trimester. This should improve the reliability of early diagnosis, but further studies are required to confirm that, if cord entanglement occurs, it is usually present by the end of the first trimester.

Amnion↗
PubMed1995

The role of gerontological advanced practice nurses in geriatric care.

GAPNs have a significant role to play in the care of older people. They provide focused health screening, counseling, crisis intervention, and comprehensive care to this population. They serve as important advocates in directing appropriate utilization of resources and making referrals that promote continuity of care geared to the needs of older adults. GAPNs provide essential educational services to older clients, their families, and other nursing and health care professionals involved in their care. They are innovators in the field of gerontological nursing and geriatric care and initiate or collaborate in research aimed at improving the health status of older persons. GAPNs are true providers of geriatric care, with great potential for serving an increasingly aging society.

Aged↗
PubMed1996

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing.

A total of 135 participants in the Canadian predictive testing programme for HD were followed for at least one year in one of four study groups: increased risk (n = 37), decreased risk ( n = 58), uninformative (n = 17), or not tested (n = 23). Clinical criteria for an adverse event were a suicide attempt or formulation of a suicide attempt plan, psychiatric hospitalisation, depression lasting longer than two months, a marked increase in substance abuse, and the breakdown of important relationships. Quantitative criteria, as measured by changes on the General Severity Index of the Symptom Checklist 90-R and the Beck Depression Inventory, were also used to identify people who had adverse events. Twenty of the 135 participants (14.8%) had an adverse event. There were no significant differences between those with or without an adverse event with respect to age, sex, marital status, education, psychiatric history, general psychiatric distress, or social supports at baseline. However, evidence for depression was associated with an increased frequency of adverse events (p < 0.04). The adverse events were similar and seen with equivalent frequency in those receiving an increased risk or decreased risk and persons at risk who did not receive a modification of risk. However, a significant difference was found in the timing of adverse events for the increased and decreased risk groups (p < 0.0002). In the increased risk group all of the adverse events occurred within 10 days after results whereas, in the decreased risk group, all of the adverse events occurred six months or later after reviewing test results. These results suggest that people entering into predictive testing with some evidence of clinical depression warrant special vigilance and also suggest that counselling and support should be available for all participants in predictive testing irrespective of the direction of test results.

Adolescent↗
PubMed1995

Diagnostic efficacy of chlamydial antibodies in cervical secretions from pregnant women and adolescent girls.

OBJECTIVE: To assess the prevalence of cervical antibodies to Chlamydia trachomatis in two different populations and to correlate the findings to culture, direct fluorescent antibody test (DFA) and serum antibodies. SETTING: Antenatal clinics and clinic for teenage counselling in Gävle. PATIENTS: 1078 pregnant women attending for routine follow up in the third trimester of pregnancy and 256 teenage girls. OUTCOME MEASURES: Cervical IgG and IgA antibodies to Chlamydia trachomatis. Cervical cultures for chlamydia. Serum IgG antibodies. DFA tests were used only in the teenage group. RESULTS: The prevalence of positive culture was 2.0% in pregnant women and 8.6% in teenage girls. In pregnant women cervical IgG > or = 8 and IgA > or = 8 were found in 7.2% and 5.8% respectively and in teenage girls in 6.6% and 2.0% respectively. The agreement between cervical IgG > or = 8 and humoral IgG > or = 32 was 0.76 in the pregnant group and 0.95 in the teenage group. The sensitivity, specificity and positive predictive value (PPV) for cervix IgG > or = 8 to predict a positive culture was 0.64, 0.94 and 0.18 respectively in pregnant women and 0.41, 0.97, 0.53 respectively in teenage girls. Of 31 teenage girls with either positive culture or positive DFA 12 had cervical IgG > or = 8 while five of 225 with negative chlamydia tests had cervical IgG > or = 8 (sensitivity 0.40 and PPV of 0.71). Cervical IgG > or = 16 was found in eight of 31 with positive chlamydia tests and in one of 225 with negative tests (sensitivity 0.26 and PPV 0.89). CONCLUSIONS: The finding of cervical IgG > or = 16 predicts current chlamydia (culture or DFA) in nearly 90% in a teenage population. It might indicate current infection in spite of negative culture in some cases. For low titres and in a low prevalence pregnant population cervical IgG are not useful for the diagnosis of chlamydia. As the sensitivity is low cervical antibodies cannot be used for screening purposes.

Adolescent↗
PubMed1992

Case management, quality of life, and satisfaction with services of long-term psychiatric patients.

Two scales developed in Great Britain, the QOL Profile and the General Satisfaction Questionnaire, were used to examine the relationship between type of case management services and quality of life and satisfaction with treatment of 68 long-term psychiatric patients in Colorado. Factor analysis identified three types of case management activities that tended to occur together: assertive outreach (direct help, out-of-office visits, and monitoring), brokerage (referral to other agencies), and counseling and assessment. Monitoring was the only variable positively associated with quality of life for all patients; brokerage was the only variable negatively associated with acceptability of services. The number of case management contacts was negatively associated with treatment satisfaction.

Adult↗
PubMed1996

Planning the development of cystic fibrosis gene carrier screening.

OBJECTIVES: It is now possible to test individuals to assess their cystic fibrosis gene carrier status and a range of strategies for screening the population have been piloted. The objective of this research was to develop a planning framework which health care planners and purchasers can use to assess the overall quantifiable outcomes and direct costs resulting from a year of alternative screening strategies and the ways costs and outcomes evolve over time. Beyond broader ethical and clinical considerations the information provided by such a framework is needed to support decisions surrounding the development of screening programmes. DESIGN: Operational Research modelling techniques were used to develop the planning framework. To help illustrate the framework it was then used to assess the quantifiable outcomes and direct costs of three of the main alternative screening strategies: from antenatal clinics, '2-step' screening where females are tested first followed by a screening invitation to the partners of female carriers, and 'couple' screening where both partners must agree to be tested at the outset; and from primary practice clinics 'active' contact of attenders. Quantifiable outcomes are defined as the number of individuals informed of their carrier status and the number of carriers, carrier couples, and affected fetuses detected. Direct costs are those associated with the recruitment and testing of individuals and the subsequent counselling of any gene carriers or carrier couples identified. Results are based on services for a resident population of 250,000 at two time points, year one and a year at 'steady state'. RESULTS: The resultant framework estimates the number of individuals tested using data on the size of the target population, the proportion of that population alerted to the screening service, and the proportion who agree to be tested when approached. Given service users, prevalence data are used to assess service outcomes. Given the number of individuals approached and the subsequent demands for services, service costs can be estimated. Preliminary results indicate that in the short-term health care purchasers and planners who favour screening are likely to opt for antenatal strategies. Although the high coverage of the primary practice strategy leads to high outcomes in year one, relative to the antenatal strategies, it also leads to very high costs. At 'steady state', cost and outcome differences between the strategies are less marked. CONCLUSION: This paper provides a framework which can be used to provide information to support decision-making surrounding the development of screening services. The methodology fills an important void in the literature and complements research elsewhere by health economists and by geneticists and their research colleagues. Preliminary findings based upon use of the approach demonstrate the need for continued research to further refine and improve the methodology.

Community Health Planning↗
PubMed2004

[Factors VII, VIII, IX, and X: molecular genetics and gene diagnosis].

Molecular genetic aspects of the inherited bleeding disorders haemophilia A and B, deficiencies of factor VII and X are described. The spectrum of the mutations is characterized. For genetic counselling the X-chromosomal inheritance of haemophilia and the principles of the indirect and direct genomic diagnosis are explained. Clinics and genetics of the rare inherited bleeding disorders known as factor VII and factor X deficiency are summarized. The mutations spectrum, the role of polymorphisms, the bleeding pattern and genotype-phenotype relations are described.

Amino Acid Sequence↗
PubMed2001

Nurse practitioner preferences for distance education methods related to learning style, course content, and achievement.

The relationships among multiple distance delivery methods, preferred learning style, content, and achievement was sought for primary care nurse practitioner students. A researcher-designed questionnaire was completed by 86 (71%) participants, while 6 engaged in follow-up interviews. The results of the study included: participants preferred learning by "considering the big picture"; "setting own learning plans"; and "focusing on concrete examples." Several positive associations were found: learning on own with learning by reading, and setting own learning plans; small group with learning through discussion; large group with learning new things through hearing and with having learning plans set by others. The most preferred method was print-based material and the least preferred method was audio tape. The most suited method for content included video teleconferencing for counseling, political action, and transcultural issues; and video tape for physical assessment. Convenience, self-direction, and timing of learning were more important than delivery method or learning style. Preferred order of learning was reading, discussing, observing, doing, and reflecting. Recommended considerations when designing distance courses include a mix of delivery methods, specific content, outcomes, learner characteristics, and state of technology.

Achievement↗
PubMedDate not supplied

Uterine cervical cancer risk in cigarette smokers: a meta-analytic study.

We conducted a meta-analytic study to measure the risk of uterine cervical cancer in former and current smokers. A literature search from 1966 to 1988 identified 139 MEDLINE citations. Of these, five studies reported appropriate and complete data for meta-analysis. A recent study conducted by the authors was also included. The graphical and variance-based methods of meta-analysis consistently demonstrated a significantly excessive risk of cervical cancer in current smokers, but not in former smokers. The powers of the analyses involving former smokers were between 0.72 and 0.99, depending on the degree of confounding attributed to unmeasured variables. Thus, it was unlikely that sample size accounted for the null association observed in former smokers. These findings have important medical implications for women in light of the prevalence of cigarette smoking. During regular gynecologic screening examinations, health care professionals may have considerable impact by counseling women about the risk of cervical cancer in smokers. Antismoking messages should be strongly directed toward women in the lower educational and socioeconomic levels to have the greatest impact on the incidence of cervical cancer.

Adult↗
PubMed1982

The cooperative study of sickle cell disease: review of study design and objectives.

Although sickle cell disease has been known for years and many of its manifestations have been recognized, the "natural history" or clinical course of the disease from early childhood to death is not well understood. This is largely because of the variable degree of severity, the variability of the many manifestations, and the complexity of the interaction of the disease process with other health-related events. Therefore, information obtained to date hs been largely anecdotal, retrospective in nature, and lacking statistical stature. Consequently, there are many unanswered clinical questions about this illness. Therefore, the National Heart, Lung, and Blood Institute of the National Institutes of Health has initiated a large-scale, multi-institution investigation based on an analytical and specific process, which is described. This 5-year study will provide the data base to answer existing questions and provide information to improve present medical management. Knowledge of risk factors, rates of progression, and incidence and nature of complications will directly impact on the care of sickle cell patients. In addition, this information will improve counseling related to family decisions and opportunities now available for prenatal diagnosis. Likewise, a data bank of clinical manifestations and a classification or index of severity are essential as emerging antisickling agents require clinical trials.

Anemia, Sickle Cell↗
PubMed1993

Community heart health programs: components, rationale, and strategies for effective interventions.

Large, well-funded, community heart health programs (CHHPs) have successfully focused on improving the cardiovascular health status of entire communities. CHHPs attempt to reduce the prevalence of risk factors associated with high rates of coronary heart disease mortality: high blood pressure, elevated serum cholesterol, smoking, overweight, and sedentary lifestyle. Program components include community organization, needs assessment, priority and evaluation, and program maintenance. Organizing the community, assessing needs and resources, and setting priorities generally occur concurrently, followed by implementing interventions. CHHP activities include social marketing, direct behavior-change efforts (including skills training, health education, and contingency management), screening (including counseling and referral), and policy and environmental change. Because State-sponsored efforts will seldom have the resources of federally-funded demonstration projects, they must pay particular attention to the "3 As" of community interventions: affordability, acceptability, and adequacy. Attention to these principles and the critical program components outlined in this paper facilitate the planning, development, implementation and evaluation of the next generation of CHHPs.

Cardiovascular Diseases↗
PubMed1997

Review of nutritional attitudes and counseling practices of primary care physicians.

I review major issues covered at the International Workshop on Nutritional Attitudes and Practices of Primary Care Physicians and synthesize some of the key findings presented at this workshop and found in the scientific literature. After presenting the rationale for managing nutritional problems in primary health care, I discuss the extent of both practice and international differences. Next, the determinants of attitudes and practices, in terms of both individual and system-level factors, are examined. Various types of interventions and the available data regarding their efficacy are reviewed. I then raise a variety of considerations regarding research methodologies and describe work in progress. Finally, suggestions are advanced regarding opportunities for increasing and improving physicians efforts to manage nutritional concerns and for pursuing promising future directions for better health through nutrition.

Attitude of Health Personnel↗
PubMed1996

Undergraduate nursing students' health promotion counselling self-efficacy.

In this study, undergraduate nursing students' self-efficacy for carrying out health promotion activities with clients in nursing settings was examined. Students in the first, second and fourth year of a baccalaureate programme felt moderately efficacious about their knowledge and abilities for health promotion counselling in the three content domains measured (smoking cessation, nutrition and exercise). Senior nursing students had the highest self-efficacy scores, suggesting a positive impact on health promotion, regardless of year in their educational programme, students reported significantly lower efficacy for their ability to engage clients in an educational programme for behavioural change. Educational directions from Bandura's theory are described.

Adolescent↗
PubMed1990

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus.

A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene can be identified. These deletions preferentially include exon 45, which can be detected by multiplex polymerase chain reaction (PCR) and Southern blot analysis of genomic cosmid clones that map to this critical region. As a new approach for definitive carrier detection, we have performed chromosomal in situ suppression (CISS) hybridization with these cosmid clones in female relatives of four unrelated patients. In normal females, most metaphases showed signals on both X chromosomes, whereas only one X chromosome was labeled in carriers. Our results demonstrate that CISS hybridization can define the carrier status in female relatives of DMD patients exhibiting a deletion in the dystrophin gene.

Blotting, Southern↗