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[119 cases of spina bifida treated surgically. Results of genetic investigations and genetic counseling].

After the surgical treatment of 119 cases of spina bifida, the authors present their experience of the genetic approach of the subject. From 1976 to 1978, a resolution not directing attitude towards the parents of the affected children has resulted in a total failure to recognize the recurrence risk, and in an absence of special care for the next pregnancies. The consequence has been recurrence cases of spina bifida in 4 families. Since 1979, a genetic inquiry has been systematically carried out, and all the parents have had a genetic counselling. This permitted the birth of 25 normal infants. In one case, the prenatal diagnosis revealed a fetal meningomyelocele, and motived a therapeutical abortion. Nowadays the fiability of the prenatal diagnosis and the possibility of a prevention through periconceptional vitamin supplementation are strong arguments to give a genetic counselling to all the parents of children with spina bifida.

Acetylcholinesterase↗

["... so that Theo knows what he should do better". Client orientation in social-therapeutic child group work--an experiential report of quality management at a child guidance clinic].

Within the framework of internal evaluation and self-evaluation activities in a child guidance clinic, measures of success have to date been based primarily on the degree to which the delegating organisations are satisfied with the results of the counselling. The orientation of the success of counselling towards the results stems from the fact that the process of helping is not generally manifest to parents, schools, and education staff. It takes place in the context of direct contact between therapists and children, the immediate addresses of help, and therefore often remains "hidden". Since the children's perspective--their impressions and appraisals--has often been neglected in past assessment methods, it hardly plays any role at all in the discussion of quality at counselling centres. This made it all the more stimulating for all those involved to initiate improvement measures within the framework of quality management on the basis of a client survey and in this way to launch a shared learning process as to how client orientation can flow directly into everyday practice. This is certainly the first attempt of its kind in the work of child guidance clinics to develop an understanding of client orientation in line with the expectations of parents and children and to link this to the quality development of the service. In the first part of this experiential report, the external process coach provides a brief summary of the assessment method employed in connection with the introduction of internal quality management at the counselling centre. This is followed by the centre's own description of the concrete performance of the client survey with children using the example of social-therapeutic child group work. The study concludes with a discussion of the benefit drawn from this process for the improvement of this pedagogical project.

Child↗

[Codevelopment and health. Prevention of HIV transmission in Ghana: the Brothers in Work Programme].

OBJECTIVE: To design a health programme, as part of a codevelopment programme, aimed at reducing the occurrence of HIV-AIDS in a rural African population. DESIGN: The Catalan Society of Community and Family Medicine developed the Brothers in Work Health Programme (BWP) through a working party of Spanish and Ghanaian doctors. The programme has two consecutive stages. The first ("being safe") aims to stop transmission of the virus caused by accidents with health material. The second, intervention stage ("being active") focuses on introducing voluntary antenatal screening for HIV, counselling and a protocol for administering nevirapine to a cohort of 600 seropositive women whilst giving birth. The results will be compared with another cohort of 600 seronegative pregnant women. SETTING: Three Area Hospitals in the Central Region of Ghana. PARTICIPANTS: 876,000 people from 3 districts. MAIN MEASUREMENTS: Assessment of HIV-AIDS prevalence and survival of newborns at 18 months. Monitoring of the cost-efficiency relationship of the interventions. RESULTS: Estimated direct costs are: a) for diagnosis of each seronegative patient, 2.43 euros (1.75 co-payment), and b) for diagnosis, counselling, and nevirapine treatment of each seropositive patient, 6.6 euros (4.65). Estimated cost-efficiency relationship of the programme is: a) for every patient diagnosed, counselled and included in the programme, 23.5 euros (15.3), and b) for each case of intra-delivery infection of baby avoided, 20.03 euros (15.5). HIV transmission to 54 children would be avoided (9% of the deliveries of seropositive women; 6.3 of the total women tested). CONCLUSIONS: The BWP has a good cost/benefice relationship in the interruption of HIV transmission.

Costs and Cost Analysis↗

Assessment and treatment of tinnitus patients using a "masking approach.".

Audiology clinics are increasingly being asked to provide tinnitus treatment services to patients who are severely distressed by tinnitus. It is unclear what levels of tinnitus care are available at different audiology clinics across the nation. Some clinics have staff who are experienced with the tinnitus masking technique or with tinnitus retraining therapy (TRT), whereas other clinics may limit their care to the provision of hearing aids. This article is an attempt to provide some basic information for those clinicians who would like to provide at least a minimum level of care for their tinnitus patients using the tinnitus masking approach. The most important requirement is a commitment by the clinician to assemble some basic resources and to structure the clinical schedule so that adequate time is available for historical review, evaluation, trial and selection of devices, and tinnitus counseling. A minimum set of measurements is recommended for inclusion in the tinnitus evaluation process. This informal review summarizes a variety of clinical observations culled from years of direct patient care experience. A tinnitus questionnaire is provided to help clinicians review potentially relevant issues.

Acoustic Stimulation↗

Ultrasound screening in pregnancy: advancing technology, soft markers for fetal chromosomal aberrations, and unacknowledged ethical dilemmas.

Fetal ultrasound screening has become routine practice in many western countries. During the last decade, such screening has led to frequent situations characterised by clinical uncertainty due to the disclosure of soft markers in the unborn child. Soft markers are minor anatomical variations indicating a somewhat increased likelihood that the fetus has a chromosomal aberration, most frequently trisomy 21 (Down syndrome). This paper presents the results of a comprehensive literature search of the National Library of Medicine with emphasis on the chronological development of scientific knowledge in relation to soft markers and the link between advancing imaging technology and clinical counselling dilemmas. An analysis of the literature makes evident that many ultrasound examiners have counselled individual pregnant women on the basis of insufficient data. Moral dilemmas have thus emerged as a direct result of advancing medical technology, and healthy fetal lives prove to have been lost due to invasive diagnostic testing aimed at resolving clinical uncertainty. Ultrasound examiners have warned against a policy of disclosing all findings of soft markers to expectant parents, but no exploration of experiential aspects linked to the disclosure of fetal soft markers has yet been published in the medical literature. The emotional reactions of mothers are important to consider given their potential impact on the biological development of the fetus. In conclusion, this paper stresses the need for paying close attention to the crucial distinction between technology development and technology implementation in relation to prenatal testing. Furthermore, it provides strong arguments for scrutinising the interface between prenatal testing and human experience.

Biomarkers↗

A randomized, controlled trial of interventions to improve adherence to isoniazid therapy to prevent tuberculosis in injection drug users.

PURPOSE: To determine the effect of several interventions on adherence to tuberculosis preventive therapy. METHODS: We conducted a randomized trial with a factorial design comparing strategies for improving adherence to isoniazid preventive therapy in 300 injection drug users with reactive tuberculin tests and no evidence of active tuberculosis. Patients were assigned to receive directly observed isoniazid preventive therapy twice weekly (Supervised group, n = 99), daily self-administered isoniazid with peer counseling and education (Peer group, n = 101), or routine care (Routine group, n = 100). Patients within each arm were also randomly assigned to receive an immediate or deferred monthly $10 stipend for maintaining adherence. The endpoints of the trial were completing 6 months of treatment, pill-taking as measured by self-report or observation, isoniazid metabolites present in urine, and bottle opening as determined by electronic monitors in a subset of patients. RESULTS: Completion of therapy was 80% for patients in the Supervised group, 78% in the Peer group, and 79% in the Routine group (P = 0.70). Completion was 83% (125 of 150) among patients receiving immediate incentives versus 75% (112 of 150) among patients with deferred incentives (P = 0.09). The proportion of patients who were observed or reported taking at least 80% of their doses was 82% for the Supervised arm of the study, compared with 71% for the Peer arm and 90% for the Routine arm. The proportion of patients who took 100% of doses was 77% for the Supervised arm (by observation), 6% for the Peer arm (by report), and 10% for the Routine arm (by report; P <0.001). Direct observation showed the median proportion of doses taken by the Supervised group was 100%, while electronic monitoring in a subset of patients showed the Peer group (n = 27) took 57% of prescribed doses and the Routine group (n = 32) took 49% (P <0.001). Patients in the Routine arm overreported adherence by twofold when data from electronic monitoring were used as a gold standard. There were no significant differences in electronically monitored adherence by type of incentive. CONCLUSION: Adherence to isoniazid preventive therapy by injection drug users is best with supervised care. Peer counseling improves adherence over routine care, as measured by electronic monitoring of pill caps, and patients receiving peer counseling more accurately reported their adherence. More widespread use of supervised care could contribute to reductions in tuberculosis rates among drug users and possibly other high-risk groups.

Adult↗

[Genetic hemoglobin diseases. Prevention at centers for family planning and education of maternal-child protection in Marseille].

OBJECTIVES: Diseases due to inherited hemoglobin disorders represent serious medical, social, and economic problems in the region of Marseille. The only effective treatment for such diseases is allogenic bone marrow transplantation. About 200 patients with either thalassemia, sickle cell or sickle cell-beta thalassemic diseases are regularly seen in local hospitals. All of these patients come from parts of the world where genetic hemoglobin disorders are endemic. METHODS: At this time, the only approach for reducing the number of affected children born is preventive. This depends upon education, the detection of carriers, genetic counselling and sometimes, prenatal diagnosis. We have organised a program of prevention supported by a grant from the DISS (Direction des Interventions Sociales et Sanitaires) in the context of visits made to the PMI (Prevention Maternelle et Infantile). This initiative concerns women presenting for consultations for three reasons: for a prenuptial check-up, for a pregnancy, and for prescription of contraceptives. RESULTS: In each of these three situations a check-up is obligatory and, for natives of countries where hemoglobin disorders are common, a hemoglobin test is recommended. If this test reveals an abnormality, the partner or husband is also tested, if he is willing. Couples who are both carriers are given genetic counselling. CONCLUSION: This preventive initiative has yielded valuable results so we hope to follow-up on the approach and extend it to other centers. Such screening, based upon the geographic origins of patients, can be implemented in the course of a consultation by any doctor.

Anemia, Sickle Cell↗

Exploring the association between color-blind racial ideology and multicultural counseling competencies.

The authors examined the association between color-blind racial ideology and self-reported multicultural counseling competencies in 130 applied psychology students and mental health workers. Results from 1 sample (n = 79) indicated that greater levels of color-blind racial ideology as measured by the Color-Blind Racial Attitudes Scale (Neville, Lilly, Duran, Lee, & Browne, 2000) were (1) related to lower self-reported multicultural counseling awareness and knowledge as measured by the Multicultural Counseling Knowledge and Awareness Scale (MCKAS; Ponterotto, Gretchen, Utsey, Rieger, & Austin, 2002) and (2) accounted for a significant amount of variance in MCKAS scores over and above that explained by self-reported multicultural training, social desirability, and participant race. Findings from another sample also provided empirical support for the link between higher color-blind racial ideology and lower multicultural case conceptualization ability (n = 51), after controlling for the influence of the number of multicultural course(s) taken. Implications of the findings and future directions are provided.

Adult↗

Validation of a transfusion prediction model in head and neck cancer surgery.

BACKGROUND: Allogeneic transfusions are necessary in 14% to 80% of patients undergoing major head and neck cancer surgery. Defining the risk for receiving allogeneic transfusion allows for informed decisions regarding appropriateness of type and crossmatch, preoperative autologous blood donation, and priming with erythropoietin. Based on logistic regression analysis of transfusion risk factors in 438 patients, we developed a transfusion prediction risk assessment (TPRA) model to determine the need for transfusion based on the preoperative hemoglobin value, tumor stage, and need for flap reconstruction. OBJECTIVE: To examine the utility of this TPRA model in clinical practice by assessing the performance of the model in a validation set of patients. METHODS: Between 1996 and 1999, 125 consecutive patients entered into a clinical care pathway underwent major surgical procedures. The ability of the model to discriminate between patients requiring and those not requiring transfusion was assessed using the area under the receiver operating characteristic curve. The agreement between actual and predicted risks was tested using the chi2 goodness-of-fit statistic. RESULTS: The overall transfusion rate was 25%. A 1-U transfusion was required in 7 patients, and multiple units were necessary for 24 patients. Flap reconstruction was required in 63 patients, 44 patients had preoperative anemia by normative values, and 64 had T3/T4 tumors. Among the low-risk non-T3/T4 patients whose preoperative hemoglobin level was normal, the actual/predicted transfusion rate without flap reconstruction was 10%/2%. For high-risk patients with T3/T4 tumors, anemia, and flap reconstruction, the actual/predicted transfusion rate was 43%/65%. The area under the receiver operating characteristic curve was 0.72. The goodness-of-fit statistic indicated lack of fit of the original model, but a recalibrated model fit the observed data well. CONCLUSIONS: In general, the TPRA model identifies patients at low or high risk for allogeneic transfusion and provides guidelines for preoperative counseling regarding the risk of receiving a transfusion. Knowledge of a patient's risk can help direct cost-effective utilization of type and crossmatch, preoperative autologous blood donation, and preoperative priming with erythropoietin.

Adult↗

Conceiving a fetus for bone marrow donation: an ethical problem in prenatal diagnosis.

We present a family who sought prenatal diagnosis in order to bear a healthy child to serve as an HLA-identical bone marrow donor for their son affected with Wiskott-Aldrich syndrome. They intended to abort HLA-incompatible fetuses who would have been unsuitable bone marrow donors. This case led us to conclude that prenatal diagnosis should not be used to benefit a third party or facilitate the conception or abortion of a fetus for the purpose of generating an organ for transplantation. The limits of parental autonomy and physician responsibility are discussed.

Aborted Fetus↗

Facilitating family communication about predictive genetic testing: probands' perceptions.

The responsibility of informing relatives that predictive genetic testing is available often falls to the proband. Support is required during this process, however the perceived utility of genetic counseling and other strategies to facilitate communication have not been explored. We investigated the experiences of 12 individuals with hereditary nonpolyposis colorectal cancer (HNPCC) in a semistructured telephone interview. Respondents informed their immediate family about the availability of genetic testing, however many more-distant relatives were not directly informed. Respondents were mostly satisfied with the way they told family members about testing and had mixed views about the usefulness of genetic counseling. Gender differences were observed, with most men expressing a need for guidance or support in communicating to relatives. Letters and booklets were thought to enhance the quality of information but the provision of further aids is unlikely to increase the number of relatives made aware of predictive testing by the proband.

Adult↗

[Waardenburg syndrome type I--autosomal dominant hereditary combination of multiple facial anomalies with cochlear deafness (author's transl)].

Waardenburg syndrome Type I is described on the basis of an observation of a family. The characteristic signs including lateral displacement of medial canthi ("telecanthus"), wide bridge of the nose, white forelock and severe cochlear deafness are found in one female patient only; however, her eyes are not of different colour. Five further bearers of characteristic signs in four generations are not so severely affected and show the facial anomalies only. To differentiate this syndrome against Waardenburg syndrome Type II which is complicated by deafness twice as often but occurs without the lateral displacement of the medial canthi, accurate measurement of the distance between the canthi is helpful. Waardenburg syndromes are hereditary according to the autosomal dominant principle with high penetration; intrafamiliarly, too, expressivity can vary greatly. To date treatment has been directed at the signs and symptoms; prognosis is usually favourable. Prevention appears possible through genetic family counseling.

Abnormalities, Multiple↗

The contributions of consumer health education to primary care practice: a review.

The inclusion of health education in high quality primary care has been suggested on the basis of 1) definitions and descriptions and descriptions of the content of primary care practice; 2) observational studies which have found that about 25 per cent of the direct patient-care time of the primary care physician is devoted to health education and counseling; and 3) surveys of physicians, who identified the most important "critical incidents" contributing to desired medical outcomes. This article reviews empirical studies of the role of health education in improving behavioral and medical outcomes for such conditions as hypertension, diabetes, congestive heart disease, streptococcal infections and others. Other contributions of health education in primary care in schools and other community settings are cited. Finally, the possible role of health education in medical education programs is described.

Community Health Services↗

Pediatric nurse practitioner functions in the outpatient clinics of a tertiary care center.

Previous research has neglected to delineate pediatric nurse practitioner (PNP) roles in tertiary care settings (TCS). New PNP roles have developed as TCS seek cost-effective solutions to providing quality patient care and to meeting new demands for outpatient care. The authors evaluated the roles of 11 PNPs in eight specialty clinics in a large university TCS. Data were collected from various sources, including interviews, typical day information, and on-site information. Content analysis was used to analyze aspects of the PNP role that are different from other PNP clinic settings that potentially contribute to greater continuity of patient care. TCS PNPs spent less time in direct patient care and more time providing care by telephone, teaching health professionals, consulting, comforting, and counseling. PNPs performed more in-depth counseling (situational crises) and administrative tasks (follow-up, record review) and fewer primary care tasks (physical examinations) than expected. The type of clinic, average patient age, case load, and physician availability modified the PNP role. It was concluded that PNPs have a viable TCS role and contribute to patient care by performing a wide range of functions vital to a multispecialty setting.

Child↗

Prenatal HIV screening in pregnant women: a medical-legal review.

Identifying pregnant women's human immunodeficiency virus (HIV) infection status provides them with the opportunity to seek appropriate treatment and to take measures to prevent vertical and horizontal transmission. Prenatal screening program options include targeting at-risk women, testing on a voluntary basis, or mandating prenatal HIV screening. When examining these options, the number of cases identified, programmatic costs, long-term health care costs, and legal implications must all be considered. Research indicates that targeting at-risk women misses a significant percentage of seropositive women, although programmatic costs may be lower. It is difficult to ascertain the difference between voluntary and mandatory programs with respect to the number of cases identified and treated. As a result, long-term savings are difficult to calculate. Mandatory programs would have the greatest direct costs and place the greatest burden on the woman's constitutional rights. By making HIV counseling and testing a routine component of prenatal care, voluntary programs could achieve the benefits of prenatal HIV screening without violating the woman's civil liberties.

AIDS Serodiagnosis↗