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[Genetic hemochromatosis].

Haemochromatosis is the most common genetic disease in individuals of Northern European origin. This disorder of iron metabolism, for which the molecular basis remains poorly understood, is characterized by an excessive absorption of dietary iron through the duodenal mucosa. Progressive iron loading of parenchymal organs results in the mid-life onset of clinical complications, and patients may succumb to cardiac failure and/or hepato-carcinoma. But patients who undergo early diagnosis and phlebotomy treatment before the development of organ damage have a normal life expectancy. The haemochromatosis gene was recently isolated and encodes a HLA class I related protein. A missense mutation (C282Y) in the homozygous configuration was observed in more than 92% of the patients. So diagnosis and genetic counselling are getting modified by this direct genotyping test.

Genetic Counseling↗

South Birmingham Coronary Prevention Project: a district approach to the prevention of heart disease.

The South Birmingham Coronary Prevention Project is described, in which health checks by practice nurses in GPs' surgeries are combined with direct patient access to a secondary referral system. Where appropriate, health check attenders are offered the choice of either (a) counselling by the practice nurse, (b) direct referral to their GP, or (c) direct referral to secondary intervention, including specialist dietary advice for patients with high (greater than 6.5 mmol/l) serum cholesterol, stress management training for mild hypertension (diastolic blood pressure greater than 90 less than 105 mmHg), and smoking cessation groups. Significant reductions in blood pressure (p less than 0.005) and serum cholesterol levels (p less than 0.001) have been achieved. Further, substantial numbers of smokers have ceased since attending smoking cessation groups. This multidisciplinary approach to the identification and modification of risk factors for coronary heart disease may provide a powerful adjunct to wider ranging population interventions.

Coronary Disease↗

The Cash and Counseling Demonstration and Evaluation: focus groups inform design of a consumer-directed cash option.

The purposes of the study were to explore consumer preferences for a cash option, to inform the ongoing CCDE survey and program design, and to identify the messages that the CCDE and other states should include when informing consumers about a cash option. The preference study consisted of 3 parts: 11 pre-survey focus groups, a telephone survey in each of the 4 participating states, and 16 post-survey focus groups. This article highlights unique results from pre- and post-survey focus groups. Focus group discussions were audiotaped and videotaped and transcribed. Transcripts were manually coded and text was clustered according to the moderator's guide questions and some new and recurrent themes that emerged. Overall, focus group participants, including elders, expressed positive feelings about the CCDE, especially about having a role in hiring workers and determining the workers' schedules and responsibilities. Focus groups provided important lessons about features to highlight when presenting program information to potential consumers and their families. Program planners must also bear in mind consumer concerns, especially considering that less than 10% of eligible Medicaid consumers volunteered for the cash option. These findings will be useful in guiding other states as they develop new cash and counseling programs, especially those in the current Cash and Counseling replication project.

Aged↗

Family studies in an extremely large mild haemophilia A pedigree which includes 10% of Greek haemophiliacs.

We illustrate the usefulness of direct mutation detection for genetic counseling by showing its application to an extremely large mild haemophilia A pedigree (91 haemophiliacs) originating from the village of Aiani in Macedonia, northern Greece. The causative mutation has already been shown to be an A to T transversion in codon 280 of the FVIII gene which replaces Asn 280 (AAC) by Ile (ATC) and which creates a new Bam HI restriction site in exon 7. The latter permitted direct, rapid and reliable detection of the mutation in relevant family members. All major branches of the family were shown to share the mutation, and carrier status was diagnosed or excluded for 23 possible carriers. Other interesting characteristics of the Aiani haemophilic population are a slightly higher longevity and fecundity than that observed in the general population and a wide range of FVIII:C levels (5-25%) associated with the mutation.

Base Sequence↗

Management of Helicobacter pylori eradication--the influence of structured counselling and follow-up.

AIMS: Helicobacter pylori (H. pylori) eradication rate varies according to the treatment regimen used and other factors, e.g. antimicrobial resistance and patient compliance. The aim of the present study was to evaluate the influence of patient counselling and follow-up on H. pylori eradication rates and to document the effectiveness of a 1 week eradication regimen consisting of lansoprazole (30 mg once daily), amoxicillin (1 g twice daily) and clarithromycin (500 mg twice daily). METHODS: Seventy-six dyspeptic patients, who at endoscopy were found to have gastritis, duodenitis or ulceration, and a positive H. pylori urease test, were recruited. Patients were randomly assigned to an intervention group (n = 38) or a control group (n = 38). Intervention patients received their medicines via the hospital pharmacy and were counselled (and followed up) by a hospital pharmacist. Control patients were given a standard advice sheet and referred to their GP who prescribed the same therapy. RESULTS: Intervention patients exhibited a statistically significant improvement in the H. pylori eradication rate (94.7% vs 73.7%; P = 0.02) and compliance (92.1% vs 23.7; P < 0.001). Of the 64 H. pylori eradicated patients, 62 were able to eliminate their antisecretory medication compared with only 12 of the H. pylori persistent patients (P < 0.001). A pharmacoeconomic evaluation indicated that counselling and follow-up reduced the direct costs of eradication by approximately 30 UK pounds per patient. CONCLUSIONS: Structured patient counselling and follow-up can have a significant effect on H. pylori eradication rates and should be a routine part of therapy.

Adult↗

[Virtual counselling: online help for adolescents].

The internet provides a new platform for communication especially used by teenagers and young adults. Professional counselling in this medium offers the chance to reach especially those individuals perhaps not reachable through existing counselling services. With this in mind, the internet portal bke (youth counselling of the Federal conference for Educational Counselling) was inaugurated in October 2000. It offers the following services: Group Chat, Discussion Forum and E-Mail Counselling. The experience made in this project phase indicates that professional counselling in this medium can reach individuals directly, who would otherwise not or only with difficulty be reached by the ordinary counselling services on offer. This is due to the fact that the internet is easily accessible, offers anonymity and therefore presents no noteworthy access barrier to overcome. This seems to apply especially to traumatised teenagers and young adults. Online counselling offers great opportunities exactly in these cases. The special task of a counsellor is to grasp this opportunity whilst at the same time having an awareness of the mediums limitations.

Adolescent↗

Direct-to-consumer sales of genetic services on the Internet.

PURPOSE The increasing use of the Internet to obtain genetics information and to order medical services without a prescription, combined with a rise in direct-to-consumer marketing for genetic testing, suggests the potential for the Internet to be used to sell genetic services. METHODS A systematic World Wide Web search was conducted in May 2002 to assess the availability of genetic services sold directly to consumers on the Internet. RESULTS Out of 105 sites that offered genetic services directly, most offered non-health-related services, including parentage confirmation testing (83%), identity testing (56%), and DNA banking (24%); however, health-related genetic tests were offered through 14 sites (13%). The health-related genetic tests available ranged from standard tests, such as hemochromatosis and cystic fibrosis, to more unconventional tests related to nutrition, behavior, and aging. Of these 14 sites, 5 described risks associated with the genetic services and 6 described the availability of counseling. CONCLUSIONS The availability of direct sales of health-related genetic tests creates the potential for inadequate pretest decision making, misunderstanding test results, and access to tests of questionable clinical value.

Commerce↗

Positive effect of counseling and dose adjustment in patients with erectile dysfunction who failed treatment with sildenafil.

OBJECTIVE: Many patients with erectile dysfunction (ED) stop using sildenafil due to subjective failure. This study examined whether counseling and maximal dosing (100 mg) could achieve better treatment compliance and could possibly improve treatment outcome. MATERIAL AND METHODS: Patients were recruited by newspaper advertisements and referred to 5 ED centers throughout the country. Details about their previous experiences with sildenafil were recorded and following an explicit explanation about the nature and action of the drug, were offered to enter the study. Instructions on drug use were provided during each visit in which four 100 mg Sildenafil tablets were provided. Treatment outcomes were assessed by the international index of erectile function (IIEF) questionnaire after taking 4 and 8 tablets. In 2 ED centers a short video with sexual counseling content was added in between visits. RESULTS: The study cohort was comprised of 220 patients aged 27-88 years. The majority reported having received limited or no instructions on drug use when sildenafil was first prescribed. A significant increase in IIEF erectile function domain scores (EFDS) between visits 1, 2 and 3 was observed (10.96+/-0.40, 16.73+/-0.51 and 17.82+/-0.55 mean+/-SE, respectively), with 23.6% of the study patients achieving normal erectile function at the end of the study. The parameters of age and initial severity of ED most influenced treatment success. CONCLUSIONS: Counseling and dose adjustment were directly influential in achieving an excellent response to a second trial of sildenafil in patients with ED who had previously failed treatment with the drug, and obviated their needing to seek more invasive measures.

Adult↗

Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests.

Several companies utilize direct-to-consumer (DTC) advertising for genetic tests and some, but not all, bypass clinician involvement by offering DTC purchase of the tests. This article examines how DTC marketing strategies may affect genetic counselors, using available cardiovascular disease susceptibility tests as an illustration. The interpretation of these tests is complex and includes consideration of clinical validity and utility, and the further complications of gene-environment interactions and pleiotropy. Although it is unclear to what extent genetic counselors will encounter clients who have been exposed to DTC marketing strategies, these strategies may influence genetic counseling interactions if they produce directed interest in specific tests and unrealistic expectations for the tests' capacity to predict disease. Often, a client's concern about risk for cardiovascular diseases is best addressed by established clinical tests and a family history assessment. Ethical dilemmas may arise for genetic counselors who consider whether to accept clients who request test interpretation or to order DTC-advertised tests that require a clinician's authorization. Genetic counselors' obligations to care for clients extend to interpreting DTC tests, although this obligation may be fulfilled by referral or consultation with specialists. Genetic counselors do not have an obligation to order DTC-advertised tests that have minimal clinical validity and utility at a client's request. This can be a justified restriction on autonomy based on consideration of risks to the client, the costs, and the implications for society.

Cardiovascular Diseases↗

Nondirective counseling interventions with schizophrenics.

Counseling interventions with paranoid schizophrenics can be daunting. While chemical, directive, and behavioral controls often are considered important, nondirective counseling techniques used by the therapeutic staff may help schizophrenic patients explore their thoughts and feelings. Several nondirective concepts pioneered by Carl Rogers are examined. These methods, which represent basic concepts of the person-centered approach, are empathy, unconditional positive regard, and congruence. A brief illustration of an interaction with a patient diagnosed as paranoid schizophrenic is presented to suggest the effectiveness of Rogerian counseling.

Adult↗

Services provided during methadone treatment. A gender comparison.

Greater improvement in posttreatment outcomes has been shown in programs that tailor frequency and type of services to unique client needs. Using a sample of 635 clients (199 females and 436 males) admitted to three community-based methadone treatment programs, this study examined gender differences in services needed and provided during the first 3 months of treatment. Results revealed that compared to males, women entered treatment with more psychological symptoms and AIDS/HIV-risky behaviors; they also presented with less criminal activity, less alcohol use, and higher motivation. Counselors addressed psychological and crisis issues more frequently with women, and counseling strategies were more often directed toward developing problem-solving and communication skills. Counselors also made more medical referrals and reported having better rapport with females. Attention to employment issues and HIV/AIDS sexual-risk behaviors did not differ by gender, even though women had more needs in these areas.

Adult↗

Counselling as part of the nursing fabric: where is the evidence? A phenomenological study using 'reflection on actions' as a tool for framing the 'lived counselling experiences of nurses'.

Anecdotal claims are often made that counselling has become part of the nursing fabric. While there is a plethora of literary comments on the subject, there is hardly any concrete evidence to demonstrate how nurses use counselling skills as part of their work. 'Evidence-based care' requires nurses to produce evidence or research in order to enhance nursing care. This study is an attempt to illuminate the counselling phenomenon as it applies to present-day nursing. Guided reflection-on-actions was used as a tool for framing the 'lived counselling experience' of six qualified nurses who have recently completed a counselling and health module as part of a BSc in Health Studies. The findings suggest the existence of a paradigm shift in the direction of a closer alignment between counselling skills as applied by nurses and counselling as a healing culture. It supports the notion that there is a distinction between using counselling skills and counselling practice per se. It also concludes that within the context of nursing, what patients require is exploration and/or resolution of focal problems and not 'personality fine-tuning' as might be the case in counselling in general. When called upon to 'dispense counselling skills', nurses are adept at combining this with other nursing activities being performed at the time.

Attitude of Health Personnel↗

[Patient education and counseling responsibilities of an organization for handicapped patients in the field of rehabilitation].

Organizations of the disabled do not see their information and counselling activities as competing against those of the financially responsible administrations but as complementary ones. Crucial to their work are the provision of guidance through the structured social protection system, familiarization of disabled persons with rehabilitation as well as their motivation and support, with the aim of rendering the disabled individual an equal partner in the process of rehabilitation. The area of social rehabilitation is a major focus in the counselling of disabled people. As specific institutional responsibilities for social rehabilitation do not exist, information and counselling activities in these matters are also directed at administrations and industry.

Combined Modality Therapy↗

The effects of post-test counselling on condom use among prostitutes in The Gambia.

OBJECTIVES: To determine the effect of counselling on condom use by prostitutes. DESIGN: Cohort study. SETTING: Field-based study in The Gambia. PARTICIPANTS: Thirty-one (12 HIV-positive and 19 HIV-negative) prostitutes. INTERVENTIONS: Post-test HIV counselling. MAIN OUTCOME MEASURES: Levels of condom use. RESULTS: Overall, counselling had no effect on condom use. CONCLUSIONS: Scarce resources should be directed towards providing condoms in bars rather than counselling.

Cohort Studies↗

Direct action.

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Counseling↗

Genetic counseling in chronic disease.

The counseling of those who are affected directly or indirectly by genetic disorders had traditionally been provided by physicians and geneticists. The author, using the example of hemophilia, argues that this type of counseling should be carried out not exclusively by medical personnel, but by social workers and others trained to deal with the social and psychological implications of such diseases.

Female↗

Evolution of HIV/AIDS prevention programs--United States, 1981-2006.

When the first cases of what would become known as acquired immunodeficiency syndrome (AIDS) were reported in 1981, the magnitude of the epidemic and the numbers of deaths were unimaginable. During the next 25 years, an unprecedented mobilization of individual, community, and government resources was directed at stopping the epidemic. CDC currently supports a wide range of human immunodeficiency virus (HIV) prevention activities in the United States, including 1) collection of behavioral and HIV/AIDS case surveillance data that document trends in the epidemic and risk behaviors; 2) programs conducted by state, territorial, and local health departments, community-based and national organizations, and education agencies; 3) capacity building to improve HIV-prevention programs; 4) program evaluation to monitor the delivery and outcomes of prevention services; and 5) research leading to new strategies for preventing transmission of HIV/AIDS. Since 1994, local and state health departments have allocated resources to specific programs and populations through local community planning processes that involve health department staff, prevention providers, and members of affected communities. A three-pronged approach has been developed, consisting of 1) prevention activities directed at persons at high risk for contracting HIV; 2) HIV counseling, testing, and referral services; and 3) prevention activities directed at improving the health of persons living with HIV and preventing further transmission.

Communicable Disease Control↗