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Malignant mesothelioma and the working environment: the viewpoint of the occupational physician.

BACKGROUND: Firm scientific evidence supports the causal association between malignant mesothelioma (MM) and occupational exposure to asbestos. Risk attributable to occupation varies from 30 to 80% across different populations. The existence of a threshold level below which there is no risk of MM is still debated. A prompt and thorough assessment of exposure is essential to evaluate and manage MM cases, from diagnostic and epidemiological points of view. OBJECTIVES AND METHODS: To highlight the multiple areas of intervention by Occupational Physicians (OP) in MM evaluation and management, to describe an experience of OP in the province of Brescia. RESULTS: The main areas of interest of the OP are exposure assessment, diagnosis (clinical, etiological), medico-legal issues, social consequences, preventive strategies, risk communication, scientific dispute/uncertainties. By means of an active search, the Brescia MM registry, managed by OP belonging to the local health authority observed 309 MM from 1977 to 2003; the local Institute of Occupational Health, hosted in a hospital of national relevance, evaluated about 200 MM in the last decade. The main outcomes of OP activity are the high percentage of direct interviews, individual case management, expert exposure assessment, etiological diagnosis, counselling, medico-legal assistance, better knowledge of occupational risks, enhanced cooperation among health professionals (oncologists, pathologists, surgeons, pneumologists, general practitioners and OP), important contribution to Registries and to epidemiology (estimates of attributable risks, incidence, survival rates), with positive social and scientific consequences (insurance agencies, trade union organizations, public events, teaching opportunities). CONCLUSIONS: This experience highlights the multifaceted role of OP in active research and evaluation of MM cases, in the context of a multidisciplinary approach.

Adult↗

Sex chromosomal and autosomal aneuploidy in the fragile X syndrome.

To date, the evidence to establish the association between aneuploidy and fragile sites, albeit thought-provoking, has been anecdotal and for the most part hypothetical. Studies with larger sample size and the use of RFLP analyses to establish parental origin of aneuploid states will undoubtedly resolve the issue. If an association between aneuploidy and fragile X and fragile site families is proved, this would have substantial impact on the counseling and management of these families. A confirmed association would direct investigators to determine common underlying biological factors leading to meiotic and mitotic nondisjunction.

Adult↗

Contact tracing for human immunodeficiency virus (HIV) infection.

Contact tracing--or partner notification--is a generally accepted method for the control of sexually transmitted diseases (STDs), but its use as an epidemiological tool against the spread of acquired immunodeficiency syndrome (AIDS) has been questioned. The authors find contact tracing for infection with human immunodeficiency virus (HIV) quite feasible; it makes it possible for health care providers to reach people at high risk for infection in order to offer them counseling and testing. Contact tracing must be performed by someone directly engaged in caring for the HIV infected patient, as well as in giving support and aiding the patient through possible crisis reactions. Through this approach the authors were able to identify 188 contacts to 91 index patients. Thirty-eight of the contacts were seropositive for HIV infection, and 21 of these were previously unaware of their infection.

Acquired Immunodeficiency Syndrome↗

Nutrition services in the continuum of health care.

Nutrition services are important components of all phases of the continuum of health care services to older persons. Nutrition and food services can play a major role in improving the health status of older individuals, maintaining their independence and dignity, reducing the rate and length of institutionalization, and possibly lowering health care costs. Nutrition screening and assessment are beneficial to consider when the individual enters the health care system. Monitoring nutritional status periodically helps define the change in the individual's needs over time and provides direction to nutritional care. Nutrition interventions, including clinical nutrition care, counseling, education, and food programs, are important options to consider in attempting to alleviate nutritional problems in the older population. Providing easy access to nutrition services in institutional and community-based health care settings will promote well-being in the older population. Evaluation of food and nutrition services should be routine and conducted with objective measurement techniques. It is important to review the available institutional and community-based health and social programs that serve older individuals and incorporate appropriate, professional nutrition services. The provision of an optimal mix of nutrition services will require significant changes in state regulations and modifications in current program operations. As future health policies develop, the appropriate types and levels of nutrition services are important to consider. The potential benefits of nutrition services in the older population should stimulate the design of a coordinated system of nutrition services in the continuum of community and institutional services for the older population.

Aged↗

Women and HIV/AIDS.

The incidence of AIDS in women over the age of 13 is increasing dramatically in the United States, with 40,702 cases reported by the end of September 1993 (Department of Health and Human Services, 1993). Some data indicate women are becoming infected at an earlier age and have a shorter survival time than men. The authors provide a background to the female epidemic, discuss the unique pathophysiologic progress of HIV disease in women, and present the sociocultural and economic issues that contribute to women's risk. Nurses must become knowledgeable of the issues directly impacting on women in order to provide appropriate education, counseling, care, and leadership to women.

Acquired Immunodeficiency Syndrome↗

[Pre-symptomatic diagnosis of Huntington disease by polymerase chain reaction].

The authors are reporting on the presymptomatic diagnosis of the autosomal dominant Huntington's disease applying the polymerase chain reaction for the first time in Hungary. The detection of the products yielded by polymerase chain reaction was carried out by silver stained polyacrylamide gel. This silver staining gave appropriate result without using radioactive technique. Cause of the disease is the greater number of CAG repeat sequence in the region of the Huntington's disease gene. The number of CAG repeats in Huntington patients is more than 37, while in not affected persons it is less than 34. Four members of two families each were examined and presymptomatic diagnoses were performed in two cases of both families. Normal alleles were detected in all cases. The tests supported the diagnoses of these patients suffering of clinically proved Huntington's disease.

Adult↗

[Cervical-vaginal smears: an unpopular test!].

No screening test for cancer in asymptomatic patients can match the performance level of the Pap smear, yet no other screening test has been so strongly criticized in the popular press. For a large part, this paradoxical situation, greatly influenced by public opinion in the United States, has arisen from a utopic desire for a "perfect" screening system. Actually, though the Pap smear will never be 100% effective, it has made it possible to greatly reduce the prevalence of invasive cervical cancer. The fact that total eradication has not been achieved is not a sign of poor performance, but rather a signal for further improvement. Public education should be reinforced so the entire population, especially high risk groups of older women and those living in socially underprivileged conditions, can benefit from Pap smear screening programs. Clinicians and cytologists must also continue their efforts to assure quality smears and cytopathological examinations. In France, the Association for quality assurance in anatomy and pathological cytology, the Centers for collecting information on anatomy and pathological cytology, and the High Counsel for Public Health have taken innovative steps in this direction. The cytology report must also be written in a clear language, including a statement regarding the adequacy of the specimen, the description of the cells observed, a diagnosis and the use of an internationally accepted classification. Finally, patient follow-up is mandatory since the Pap smear technique is a screening method and cannot provide a definitive diagnosis. All positive smears must be confirmed by colposcopy and histologic assessment. Correctly used, the Pap smear remains the method of choice for the eradication of cervical cancer.

Aftercare↗

Psychological aspects of genetic counseling. II: Quantitative analysis of a transcript of a genetic counseling session.

The Bales system of scoring small group interactions was used to analyze a transcript of a preamniocentesis (genetic) counseling session in which a husband (H), wife (W), and a male counselor (C) participated. Scoring required the subdivision of communication into the smallest meaningful and scorable units, assigning each unit one of twelve possible category scores and designating the initiator and intended recipient(s) of the unit. The categories included "positive" and "negative" reactions, questions and attempted answers. Over half the units were found to consist of interactions in which information, orientation, and clarification were provided. C initiated 54% of all units of which three-quarters consisted of factual information regarding amniocentesis, genetic risks, Down syndrome, and mental retardation. C interacted significantly more frequently with W than with H, but units directed toward H were significantly more positive than those toward W. One interaction, in which C responded to affective material, significantly altered the subsequent frequency and direction of units; H became more verbal and there was an increase in further affective expression. Although evidence of persuasion was present, no directiveness was demonstrated. The data show that quantitative study of genetic counseling is feasible. Further research on different counseling styles and on the influence of specific interventions on later outcome has been undertaken.

Genetic Counseling↗

Providing solutions--defining problems: the imperative of disease prevention in genetic counselling.

Common sense states that problems make people look for solutions. This article proposes the contrary, i.e. that solutions provide the framework within which certain problems can be stated and handled. Drawing on observations of cancer genetic counselling in Denmark and official recommendations concerning the practice of genetic counselling, this article explores how the new prophylactic possibilities become the lens through which risk factors are identified and defined as problems that require action. In particular, the question of how new possibilities to prevent hereditary disease challenge the traditional non-directive ethos of clinical genetics provides the occasion to analyse governmentality processes in clinical genetic dialogues. The article argues that an imperative of choosing disease prevention in genetic counselling transforms the notion of non-directiveness as well as the notions of autonomy and informed consent. The transforming event is the transmission of expert knowledge on genetic risk from counsellor to counsellee. This process of knowledge transmission creates autonomous individuals who, through the medium of choice, consent voluntarily to take personal responsibility for themselves and their relatives. Conceived as a health technology, genetic counselling is a practice through which hegemonic knowledge claims about saving lives by acting responsibly is created. Disease prevention as the solution to increased risks comes to stand out as the right way of relating to oneself, the family, and society.

Genetic Counseling↗

Obtaining a durable power of attorney for health care from nursing home residents.

BACKGROUND: A durable power of attorney for health care (DPA) allows a person to appoint a surrogate decision-maker for any future period of mental incapacity. The absence of advance directives can lead to confusion and the expenditure of resources while trying to exert a substituted judgment. METHODS: The Wisconsin DPA was presented with an organized pilot program to 150 residents who had been judged by their social workers to have the capacity to make informed decisions regarding medical care. The reasons residents gave for accepting or rejecting a DPA were analyzed. RESULTS: Seventy-nine percent prepared a DPA. Reasons for signing included allowing the resident to decide who would make medical decisions and assuring that specific wishes would be carried out. Twenty-one percent did not execute a DPA. Reasons were categorized as confusion and misunderstanding regarding the legal system, mistrust, or social isolation. CONCLUSIONS: The high rate (79%) of DPA completion is probably related to individually counseling residents. However, competent residents who despite counseling do not choose to execute a DPA can have detailed advance directives ("living wills") prepared without appointing a decision-maker.

Adult↗

Multicultural education and genetic counseling.

The responsibility to provide accessible, useful genetic counseling to individuals from many cultures and ethnicities arises from the increasing ethnocultural diversity of the populations served, coupled with the ethical goal of providing equal access and quality of services for all individuals. The multicultural education, training, and practice of genetic counseling involves three major components: knowledge of relevant ethnocultural groups, ethnocultural self-awareness, and an understanding of institutional and social barriers to services. Despite the diversity of ethnocultural groups served and the critical role of direct experience and training for the genetic counselor, some general guidelines for multicultural genetic counseling can be identified. These include the importance of establishing and maintaining trust, the essential need to respect the counselee's healthcare beliefs and practices, and the necessity of understanding the impact of culture on the process of decision making and on counselee responses to nondirective counseling.

Cultural Diversity↗

Student-directed learning in a community geriatrics advanced pharmacy practice experience.

OBJECTIVES: To assess a community geriatrics advanced pharmacy practice experience (APPE) that aimed to improve students' attitudes towards older adults and provide a student-directed learning experience. DESIGN: Students provided blood pressure monitoring and medication counseling to older adults living in a low-income residential facility as part of a required 6-week ambulatory care service-learning APPE. Pre-experience and post-experience essays on students' perceptions of the elderly and their intended and actual learning were retrospectively reviewed using a qualitative process to determine whether the course objectives were met. ASSESSMENT: Many students initially described older adults in factual terms or using negative descriptors. Most expressed a desire to increase their knowledge of diseases commonly occurring in and drugs commonly prescribed for the elderly or to improve specific skills. Many students initially had difficulty articulating clear and measurable learning objectives and appropriate assessment metrics, which are important components of self-directed learning. The final essays revealed many students learned more about the humanistic aspects of care than they had anticipated. CONCLUSION: This community-based geriatrics experience improved students' attitudes towards working with older adults and provided practice in developing and assessing their personal learning objectives.

Aged↗

[Prenatal molecular diagnosis of cystic fibrosis. Report of 3 cases].

Cystic Fibrosis (CF) is a severe and relatively common autosomic recessive disease caused by a variety of mutations in the CFTR gene. The most frequent mutation worldwide, consists of the deletion of the phenylalanine codon at position 508 (delta F508). Here we report the first cases of prenatal diagnosis of CF by DNA analysis in couples at risk in Venezuela. The study focused on the detection of delta F508 alleles analyzing DNA recovered directly from amniocytes or from their cultures, using the polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis. Two of three fetuses resulted homozygotic for the delta F508 allele and the third one turned out to be a delta F508 carrier. This information sustained the genetic counseling of the couples and allowed them to take objective reproductive decisions, a direct consequence of the availability of gene analysis at the DNA level.

Adult↗

Probabilistic belief networks for genetic counseling.

This paper describes a program, GenInfer, which uses belief networks to calculate risks of inheriting genetic disorders. GenInfer is based on Pearl's (J. Pearl, Artif. Intell. 29 (1986) 241-288) algorithm for fusion and propagation in probabilistic belief networks. It is written in Common Lisp. GenInfer can calculate genotypes for any family affected with any single-gene inherited disorder. Besides considering both negative and positive information in the pedigree. GenInfer takes into account additional information about the specific disorder as well as supplementary information for family members. The output consists of genotype probabilities for all family members and estimated genetic risks for prospective children of the consultands. Belief networks provide a way to calculate probabilities for systems of conditionally dependent variables. The impacts of various pieces of information are propagated and fused in such a way that, when equilibrium is reached, each proposition can be assigned a degree of belief consistent with the axioms of probability theory. In Pearl's algorithm, information is communicated through the network by messages sent between nodes. Pearl's basic algorithm cannot directly handle multiple-connected networks, which arise in the genetic counseling domain whenever a family pedigree includes consanguinity or more than one child per couple. GenInfer makes use of two cycle breaking methods, clustering and conditioning, to handle these situations.

Bayes Theorem↗

HIV prevention: current health promoting behaviour models for understanding psycho-social determinants of condom use.

The application of current health promoting behaviour models for understanding psycho-social determinants of condom use is discussed. It was concluded that their utility is reduced because they are individualistic models and do not take into account interaction between couples, and contextual factors. Systemic AIDS counselling and relapse prevention approaches to invervention may provide a better basis for developing an appropriate methodology for studying condom use because they incorporate contextual factors. Some future directions for research into the determinants of condom use and the implications for health education and counselling are proposed.

Contraceptive Devices, Male↗

Contraception: a new practical learning package.

BACKGROUND: A new self-directed learning package was developed to assist medical students learn the counselling and practical skills to enable them to communicate with men and women about contraception and related matters. OBJECTIVES: This paper describes the package and the way it was facilitated, the students' ratings of the package and their feedback about the session on the first time it was presented at four teaching hospitals. RESULTS: The students rated the contraception package as average. The reasons given were: no introduction to the contraception session, lack of a trained person to conduct and facilitate the contraception learning session, poor organization at one of the hospitals and too little emphasis on self-assessment. The assumption that the students had a basic hormonal knowledge prior to the contraception sessions was incorrect. DISCUSSION: The results suggest the contraception learning package needs a person with contraceptive knowledge, patient-doctor skills and experience with self-directed learning to be present throughout the 3-hour session and for tools to be available that emphasize self-assessment during the session. OUTCOME: The modifications to be made to the learning package include pairing male and female students, a reduction in duration of the learning stations, an additional learning station relating to hormonal contraception, and inclusion of pregnancy and ovulation testing. These modifications were suggested by the participating students.

Adult↗

Hepatitis C prevention with nurses.

A state campaign to educate nurses about hepatitis C and encourage nurses to fight the epidemic provided an opportunity to assess the relationship between information and safety practices. Baseline and follow-up surveys were sent to random, representative samples (n = 6000) of licensed nurses in Massachusetts, USA. Responses received by 42% (n = 2443) at baseline and 37% (n = 2167) at follow-up were compared to explore the relationship between receiving information and propensity to counsel patients or use safety equipment. Only data from nurses in direct patient care were analyzed. Although few changes were observed, the assessment provided further evidence that more than a single intervention is needed to achieve health behavior change. The number of nurses who never used safety equipment did decrease slightly, from 13.3% (191) to 8.2% (132), and nurses who received information were more likely to talk to patients about the virus: 49% (414) compared to 21% (120). Hepatitis information aimed at nurses may help control this emerging epidemic.

Attitude of Health Personnel↗

[Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members].

OBJECTIVE: To develop a diagnostic test for direct identification of disease-causing mutation in the patients with retinoblastoma and correct prediction of carrier- status in unaffected adults and newborns in the RB kindred. METHODS: Southern blot hybridized by Rb cDNA and other intragenic probes were used to detect big deletions or rearrangements at Rb gene locus. SSCP analysis and direct sequencing of primer-directed enzymatic amplification to identify point mutations as small as a single nucleotide change. RFLPs and VNTRs within the Rb gene were used as genetic markers for haplotype analysis. RESULTS: The probands from 79 RB kindreds were identified to have Rb gene mutation, including 25 somatic mutations and 54 germline mutations (36 new germline mutations, 15 inherited mutations and 3 mosaicisms). The WBC DNAs from their family members were also analyzed for determining origin and carrier of mutation. CONCLUSION: The direct identification of causing- cancer mutations by combining SSCP analysis and direct DNA sequencing showed many advantages than other indirect methods such as haplotype analysis. It can distinguish hereditary RB from nonhereditary RB and identify the unaffected carriers without family history and informes affected family member. This method is helpful in gene diagnosis and genetic counselling.

Adult↗