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Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy.

Duchenne muscular dystrophy (DMD) and the allelic milder form of Becker muscular dystrophy (BMD) are caused by mutations of the dystrophin gene on the short arm of the X chromosome. One third of affected individuals are expected to result from de novo mutations. Genetic counselling of families with sporadic cases is complicated by the potential meiotic origin of the mutation in the mother resulting in germline mosaicism. Here we present direct evidence for combined somatic and germline mosaicism for a deletion of the dystrophin gene, thereby proving the mitotic origin of this deletion and pinpointing a further potential pitfall for genetic counselling. The mother of a BMD son and a BMD carrier daughter, both carrying a deletion of dystrophin cDNA 7 (0.5 kb Hind III fragment) and cDNA 8, was herself clinically healthy and had normal creatine kinase levels. A muscle specimen of the mother showed mild overall pathology as well as focal dystrophin deficiency. In contrast chromosomal in situ suppression (CISS) hybridization of metaphase chromosomes using a cosmid clone of the corresponding cDNA deleted in her son revealed no evidence of somatic mosaicism in their lymphocytes. These results emphasize the value of an approach correlating genetic and immunological data for the definition of a carrier state in BMD or DMD. The possibility of somatic mosaicism should be considered when genetic counselling of a family with a sporadic case of BMD or DMD is performed.

Blotting, Southern↗

[Preliminary study of smoking cessation at 6 months following medical counseling, pamphlet, and follow-up].

OBJECTIVES: Preliminary study to evaluate the results of a programme to help smokers. DESIGN: Study involving direct intervention, with control group, and with random distribution in experiment group and control group. SITE. The study was carried out in the patients' visits of the five doctors at Primary Attention on the afternoon shift, "V Centennary" Health Centre, San Sebastián de los Reyes, Madrid. PATIENTS: 102 smokers aged from 21 to 67 years who attended the appointments for any reason were selected. INTERVENTION: The participants in the experiment group (n = 48) were given a structured talk which lasted ten minutes and were supplied with a "Guide to Giving up Smoking". The control group (n = 50) were advised to give up the habit. We checked consumption by telephoning subjects, after 30 days, 90 and 180. MAIN MEASUREMENTS AND RESULTS: After 30 days 12 individuals (25%) from the experiment group had given up smoking, and 4 (8%) from the control group. After 90 days 12 subjects from the former group did not smoke (25%) compared with 3 (6%) from the latter. After 6 months 10 out of the former group did not smoke (20.8%) and 5 individuals from the latter (10%) (not significant). CONCLUSIONS: Subjects were positively receptive to the medical advice received from their doctors. The level of non-smoking observed after 6 months is clinically significant, although the difference between the two groups is not statistically significant, possibly as a result of the small size of the sample.

Adult↗

Pediatricians' approach to obesity prevention counseling with their patients.

OBJECTIVE: The American Academy of Pediatrics has issued a primary pediatric obesity prevention policy statement. Its focus is directed toward the health supervision visit. We used qualitative research to determine physicians' approaches toward obesity prevention within this visit. DESIGN: Twenty-four University of Wisconsin pediatricians participated in a qualitative study consisting of data transcribed from audio-taped interviews. Open-ended questions investigated specific health supervision practices pertaining to obesity prevention, and major themes were identified. RESULTS: The pediatrician's role in obesity prevention is education and detection. Pediatricians provide information on proper nutrition, physical activity, media time, and parenting skills. These pediatricians routinely discuss (1) junk food, (2) balanced diets, (3) nutritional requirements, and (4) parental techniques to promote healthy approaches to food. They discuss methods to increase physical activity and routinely recommend limitations to media time. However, only a third use body mass index (BMI) charts during their health supervision appointments and many are uncertain how to tailor guidance to children with obesity risk factors. CONCLUSIONS: Pediatricians follow many of the obesity prevention guidelines. Further evidence is needed to understand the effectiveness of their education and detection methods. Potential areas for improvement include use of BMI charts and counseling with specific obesity prevention in mind.

Body Mass Index↗

Codman Award Paper: self-efficacy of staff nurses for health promotion counselling of patients at risk for stroke.

The effect of nurses' confidence to counsel patients at risk of stroke in selected health promotion areas: smoking cessation, exercise and nutrition was examined. Bandura's (1986) self-efficacy and Knowles' adult learning theories provided the theoretical underpinnings for the study. This was a quasi-experimental design in which neuroscience nurses (N = 23) from a quaternary hospital completed questionnaires prior to, immediately after, and 2 months post completion of a self-directed learning manual (SDL). The researcher-designed manual was designed to enhance learning about the risk factors for stroke and the importance of stroke prevention. Along with reflective activities and pre-post test, strategies for counseling high-risk, stroke-prone individuals in the areas of smoking cessation, exercise, and nutrition were also integrated. The Health Promotion Counseling Self-Efficacy Scale (Tresolini, Saluja, and Stritter, 1995), consisting of 10 self-efficacy subscales relating to self-confidence in knowledge and ability to counsel in health promotion areas, was used to capture the nurses' self-report of self-efficacy. Using a 5-point Likert Scale, nurses also rated their amount of agreement or disagreement about health promotion counseling in practice. Overall, self-efficacy levels for both knowledge and counseling increased significantly (p < .01) from pre-to immediately post completion of the manual, and decreased slightly at two-month follow-up. This pattern was evident in all health promotion areas measured except for knowledge in exercise (p = .015). Nurses' attitudes about aspects of health promotion practices correlated significantly (p < 05) at two-month follow-up with all health promotion areas. Results of this study support the usefulness of a self-directed learning manual as a teaching strategy for health promotion counseling of individuals at risk of stroke.

Adult↗

Consultation and interprofessional collaboration: modeling for the future.

Consultation and interprofessional collaboration by psychologists occur with individuals, groups, programs, and organizations. The practice of consultation and interprofessional collaboration involves interdisciplinary relationships, preparation, and advanced skill development within specialty areas of psychology (e.g., clinical, counseling, industrial-organizational, and school). The Workgroup on Consultation and Interdisciplinary Relationships engaged in a planning process at the Competencies Conference: Future Directions in Education and Credentialing in Professional Psychology to address fundamental issues regarding consultation and interprofessional collaboration in professional psychology. The Workgroup articulated working definitions, consensus points about psychologists as consultants and interprofessional collaborators, a consulting and interprofessional competency blueprint for preparation and assessment strategies, and future directions. This is one of a series of articles published in this issue of the Journal of Clinical Psychology. Several other articles that resulted from the Competencies Conference will appear in Professional Psychology: Research and Practice and The Counseling Psychologist.

Cooperative Behavior↗

Psychological assessment and intervention: future prospects for women with breast cancer.

During the last decade, there has been a growing interest in the psychosocial aspects of breast cancer. Studies have addressed multifarious aspects, including the possible importance of personality factors and stress in the onset and progression of malignancy, the psychological impact of diagnosis and treatment, the incidence and nature of psychological and psychiatric problems, the development and evaluation of psychological interventions to ameliorate treatment side effects and to enhance quality of life, the psychological effects of screening for breast cancer and of counselling women at high risk, the organization of services, training, and psychoneuroimmunology. These and other studies are reviewed and possible directions for future research are indicated. It is clear that psychosocial factors are becoming increasingly important components of the assessment and management of patients with breast cancer.

Breast Neoplasms↗

[AIDS: epidemiology and prevention for clinical practice].

From the institution of an European statistic for the incidence of Aids onwards Switzerland has had the highest per capita rate. The marked increase of Aids victims in drug-addicts over the past years is also well established. An improved surveillance of HIV spread is mandatory for actual assessment of the epidemiologic situation. The long lag between HIV-infection and the manifestation of Aids impede counter measures. Prevention has thus to relay on three levels simultaneously: The 'Stop-Aids' crusade for the entire population, target group oriented activities and individual counseling. For the latter individual level physicians play the decisive role. The minimal goal for the physician should aim at the immediate prevention of HIV-infection in any of his patients. Good approaches to this directive are available.

Acquired Immunodeficiency Syndrome↗

Genitourinary disorders of old age: therapeutic considerations including counseling for sexual dysfunction.

Genitourinary tissues undergo physical changes with advancing age, due partly to hormonal alterations. However, the greatest influence on continuing sexual function during aging is emotional and is directly related to the psychologic history of the individual patient. The interested professional can help his patient substantially by simply taking time to listen, a process which permits identification of any psychogenic basis for the sexual dysfunction. The entire approach and method of counseling presuppose that psychogenic impotence is the most common form of the problem. This preliminary effort can do no harm. Should it fail, the patient can be referred to other consultants who use more protracted or sophisticated modalities. With the elderly, the clinician can advise patients to share interpersonal warmth and to enjoy the satisfaction of body contact at any age at which this desire and capacity persist. To the aging person, the totality of sexual meaning is more significant than performance or technique. The sympathetic counselor who renders supportive reassurance to the patient usually can expect beneficial results.

Aged↗

Cancer patient education: reality and potential.

Cancer now attacks one in three Americans, resulting in one in six deaths. Yet, until recently, few patient education programs were directed toward cancer patients. This review examines the status of cancer patient education and suggests future directions. We focus on several aspects of cancer patient education, including needs assessments and programs in treatment, rehabilitation, and continuing care and evaluation. The most comprehensive patient education programs are those directed toward patients in active treatment; one of its tasks is to help patients manage treatment side effects. A major component of rehabilitation programs is counseling patients to help them cope with the effects of cancer. Many patient education programs have performed evaluations; most reflect difficulties in one or more areas, such as selecting appropriate measures or accruing adequate sample sizes. We recommend several directions for the future, including the use of appropriate measurement tools, adequate sample sizes, multimodality programs with incorporation of psychological techniques such as relaxation training and guided imagery, and assessment of the impact of patient education programs on costs.

Counseling↗

Managing medication compliance of tuberculosis patients in Haiti with medication monitors.

SETTING: A tuberculosis clinic in Haiti using self-administered medication. OBJECTIVE: To determine if medication monitors could be used along with directly observed therapy in developing countries to help solve the problem of compliance with medication. DESIGN: Patients were randomized into three groups: Group A took medication from medication monitors and were given counseling based on the monitor record; Group B took medication from medication monitors, but the record was not available for counseling; and Group C took medication from simple containers. RESULTS: Good monitor records in the first 11 weeks predicted less default from treatment (P < 0.01), and better compliance (P < 0.01) in the last 9 months. Counseling based on the monitor record appeared to reduce treatment abandonment by about half. CONCLUSION: This study suggests that medication monitoring of self administered treatment would be useful in settings where directly observed therapy cannot be delivered for the entire duration of treatment, especially in rural areas, by 1) identifying poor compliance early in therapy, 2) reducing the frequency of clinic visits for patients with good monitor records who live excessive distances from the clinic, 3) counseling patients about their monitor record to improve treatment completion rates, and 4) lengthening the duration of therapy when poor compliance is found.

Adolescent↗

Use of Project Liberty counseling services over time by individuals in various risk categories.

OBJECTIVE: The authors examined temporal changes in the rates at which people sought access to Project Liberty services after the attacks of September 11, 2001, according to risk category (family of missing or deceased, persons directly affected, uniformed personnel, other rescue or recovery workers, schoolchildren, displaced employed and unemployed workers, persons with disabilities, and the general population). METHODS: First visits to individual counseling services, as determined from logs of 465,428 service encounters, were proportioned among risk categories and plotted across 27 months. RESULTS: Individuals who lost family members accounted for 40 percent of visits in the first month but dropped to 5 percent or fewer visits by five months. Uniformed personnel used disproportionately larger percentages of services after the first year. Occupationally displaced and unemployed workers sought counseling at relatively steady rates. CONCLUSIONS: Postdisaster counseling should be made available for extended periods, with shifting emphases to meet the changing needs of high-risk groups.

Adult↗

[Vocational and occupational counseling of handicapped patients--a comprehensive social federal responsibility].

The extensive vocational and employment information and counselling possibilities available in the framework of our social services system in the FRG, are aimed at attaining optimum vocational integration of the disabled clients. The legal foundations are in particular to be found in the Social Code and the rehabilitation adjustment act. Servicing some 80% of all disabled clients in this field, the Federal Employment Institute is the main financially responsible administration in vocational rehabilitation. The services and benefits provided are based on the employment promotion act and the directive of the Institute's governing body concerning industrial and vocational rehabilitation of disabled persons (AReha). Successful vocational counselling outcomes presuppose client participation; counselling contacts are free of charge to the rehabilitee, and are sought on a voluntary basis. The local employment office's medical and/or psychological services will in many cases by called in by the counsellor. If these services do not arrive at a satisfactory proposal either, vocational assessment and work testing measures in vocational training or retraining centers are indicated. Vocational preparation may in addition be useful, e.g. in the form of promotional courses and/or pre-rehabilitation courses. The catalogue of services and benefits available is complex and adjustable to individual needs. The rehabilitation measures provided invariably are aimed at achieving entry into long-term employment. When necessary, the disabled clients are followed-along by the counsellors until this goal is attained.

Chronic Disease↗

Trisomy 3 mosaicism on CVS: case report with literature review and propositions for investigation and counseling.

Chorionic villus sampling performed for advanced maternal age revealed trisomy 3 in 20% of mitoses studied after a semi-direct chromosomal harvest. Amniocytes and cord blood showed a non-mosaic 46,XY karyotype. The birthweight of the normal newborn was at the tenth percentile. Analysis of term placenta by cytogenetics and by fluorescent in situ hybridization (FISH) confirmed the presence of the trisomy 3 in 20% and 12%, respectively, of cells from two peripheral placental biopsies. Placental histology was heterogeneous, some portions showing immature, edematous and undervascularized villi. DNA analysis confirmed the biparental origin of the chromosomes 3 in the child, whose development is normal at 36 months.

Adult↗

[Evaluating the health of the elderly and well-being of relatives caring for the elderly].

Facilitating a realistic appraisal of physical and psychiatric health parameters of a diseased family member has shown to be most important in counseling families with frail elder relatives. It is a prerequisite for adequate coping strategies to reduce caregiver burden, e.g. for the relief available using professional help. Data of a study on 140 families with a diseased elder relative (Bruder et al.) (1) are used to identify 6 types of families that differ maximally with regard to estimation of the old person's state of health (denial, realistic view or aggravation of disease by the caregiver and/or by the old person) by means of cluster analysis. A multiple regression of "caregiver wellbeing" on the elderly's "objective health status", on "family type" and on an interaction term "objective health status" by "family type" accounts for roughly 33% of the variance of caregiver wellbeing. A highly significant effect of the interaction term proves denial and/or aggravation of the elder person's state of disease to be detrimental to caregiver wellbeing given a certain grade of disease of the old person. A negative effect of the patient's disease on caregiver wellbeing is found especially for families a) with old person and caregiver misjudging physical deficits in opposite directions and b) with caregivers denying organic brain deterioration in their frail relative. A concept for counseling families reaching from information, support during the process of grieving about loss of the elder's capacities up to psychotherapeutically oriented help for family members is briefly described.

Adaptation, Psychological↗

Same-sex attraction, homosexual orientation, and gay identity: a three-tier distinction for counseling and pastoral care.

Given recent prevalence estimates most pastoral caregivers and counselors will work with persons who experience same-sex attraction (SSA). Many of the people who experience SSA will report such a consistency in the directionality and intensity of their attractions that they think of themselves as having a homosexual orientation. Others will integrate their experiences of SSA into a gay identity. What can facilitate pastoral care and counseling is an intentional use of this three-tier distinction: experiences of SSA, homosexual orientation, and gay identity. A discussion of this three-tier distinction is followed by specific suggestions for utilizing this conceptual framework as a resource in pastoral care and counseling.

Counseling↗