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PubMed2003

Comparison of activities and attitudes of general practitioners concerning genetic counseling over a 10-year time-span.

The aim of this study was to investigate whether the activities and attitudes of general practitioners (GPs) concerning genetic counseling have changed between 1989 and 1999. In 1989 a random sample of 124 GPs in The Netherlands was selected. Of these GPs, 98 were contacted again in 1999 and 71 completed the questionnaire. The study showed an increase in the percentage of GPs who provided genetic counseling when a risk factor for having a child with a congenital disorder was present and known. In both 1989 and 1999, the GPs seldom used a recommended combination of oral and written information, and only data that was available in the databases on the risk indicator 'use of medication' increased over the years. GPs are still supporters of a directive method of counseling, and seem to believe that the main goal of genetic counseling is to prevent hereditary and congenital disorders. Although, between 1989 and 1999 more GPs provided genetic counseling when a risk indicator was present and known or referred to a clinical geneticist, only limited improvement was found in the activities of GPs to attempt to collect these data.

Attitude of Health Personnel↗
PubMed1983

Pelvic inflammatory disease: a review of therapy.

Pelvic inflammatory disease (PID) is a serious health problem that affects the reproductive capacity and the sexual activities of women. Approximately 50,000 cases are reported annually resulting in severe pain, reduced fertility and costly health care. Diagnosis of PID requires a complex analysis of the history, a thorough physical examination and diagnostic testing. Goals of care include accurate diagnosis with particular emphasis on differential diagnosis, antibiotic therapy, close follow-up and counseling. Antibiotic therapy is directed against the pathogenic organism, either gonococcal or nongonococcal. Careful counseling and follow-up aids successful treatment and decreases the likelihood of infertility.

Adult↗
PubMed1995

Preconception care: a means of prevention.

Preconceptional health promotion should provide a prevention framework for interactions with all women of childbearing potential. Preconceptional counselling is properly directed by specialists in the field of obstetrics and gynaecology, but a multispecialty effort may be needed to achieve adequate information for decision-making. Preconceptional health care offers an important opportunity for physicians involved in women's health to expand a primary care and a primary prevention focus. The obstetrician or gynaecologist is not only involved in acute diagnosis and treatment plans but also in disease prevention, risk and behaviour modification and counselling, which are integral parts of primary prevention and co-ordinated women's health care.

Female↗
PubMed2003

Genetic counseling gone awry: miscommunication between prenatal genetic service providers and Mexican-origin clients.

Amniocentesis, and other prenatal genetic tests, have become a well-established feature of modern prenatal care. But these tests place a considerable decision-making burden on the expectant mothers to whom they are offered: the genetic issues involved are complex and the appropriate course of action sometimes ambiguous. Genetic counseling aims to help pregnant clients make an informed decision about prenatal genetic tests. But the clientele of prenatal genetic counseling has changed significantly in the years since the practice was established. Clients were once a self-selected group of women well-informed about the genetic services being offered. In contrast, clients now include an increasing number of women, particularly ethnic minority women, who had no prior knowledge of genetic testing, but were found to be at risk of birth defects after routine screening. Little is known about how well genetic counseling serves the needs of this new clientele. This paper investigates the possibility that miscommunication between genetic counselors and their Mexican-origin clients contributed to the higher rates of amniocentesis refusal. We interviewed 156 pregnant Mexican-origin women who screened positive on a blood test routinely offered in California to detect birth defects. We also observed the genetics consultations of a sub-sample of the women. We identified five common sources of miscommunication: (1) Medical jargon; (2) The non-directive nature of counseling; (3) The inhibitions of counselors stemming from misplaced cultural sensitivity; (4) Problems of translation; (5) Problems of trust. We found that many Mexican-origin women are skeptical of genetic testing and do not easily surrender their own lay theories about the causes of their condition. In order to dislodge the misunderstandings of their clients, counselors must give clients the opportunity to air their own views, however contrary to those of genetics professionals these may be.

Amniocentesis↗
PubMed1990

[Cardiac rhabdomyoma in children and Bourneville's tuberous sclerosis].

Cardiac rhabdomyomas are rare congenital tumours resulting from an early dysembryoplastic disorder of organogenesis. They are generally benign hamartomas which may be the first manifestation of a phakomatosis, tuberous sclerosis (TS) (Bourneville disease), present in over half of cases. The cases of 11 children with cardiac rhabdomyomas are reported. All of them also had extracardiac lesions of TS. Their ages ranged from 1 day to 6 years of age. In one case, the diagnosis was made antenatally by foetal echocardiography. The clinical expression may be very serious when there are hemodynamic disturbances resulting from an obstructive syndrome (N = 3) or arrhythmias (N = 2). Nevertheless, the cardiac evolution is usually favorable (N = 9) in contrast to the neuropsychiatric outcome which is generally catastrophic (N = 8). The diagnosis is made by two-dimensional echocardiography and magnetic resonance imaging. Surgical resection of the tumours is reserved for forms complicated by cardiac failure due to intracardiac obstruction (N = 2) of life-threatening resistant arrhythmias. Genetic counseling should be directed towards prevention of TS because it is transmitted in an autosomal dominant mode. However, most of the cases are sporadic. Echocardiography should be systematic in all children with TS and is also recommended for members of their families, even those apparently unaffected, in order not to miss paucisymptomatic forms of TS.

Adolescent↗
PubMed1999

Describing what chaplains do in hospitals.

Reports on a research project that describes the unique activities in which chaplains engage as they provide pastoral care and counseling and spiritual direction to patients in a large, acute tertiary referral medical center in Melbourne, Australia. Analyzes 57,704 entries which described what hospital chaplains do when interacting with patients over a period of five and one-half years. Identifies as the core activities "promoting spiritual transcending" (57.6% of all entries), "promoting spiritual intactness" (36.1% of all entries) and "enacting ministry" (6.2% of all entries).

Australia↗
PubMed1997

Revisiting foundations of autonomy and beneficence in genetic counseling.

Respect for autonomy of clients and helping clients to achieve the good they desire are now recurring themes in genetic counseling literature. In professional discourses on the clinical encounter involving genetic counseling these ideas are frequently employed in a manner which suggests that a client enters the conversation lacking only some technical information needed to make a decision. However, decision-making autonomy is developed and sustained over a lifetime through dependencies on social partners; including with the genetic professional. In an operational sense autonomy is reflected in the capacity of a client to do informed analytical work, to engage in reality testing of alternative decisions, and to do moral testing of decisions. The counselor's role can extend to assisting the client in developing the skills needed for the tasks of moral deliberation. This work develops a theoretical framework for conceptualizing autonomy of clients and the resulting relationship between counselor and client. This framework is more foundational than current debates about the relative merits of directive versus nondirective counseling, and points toward a relationship between counselor and client which differs from that implied by either of these two traditional relational paradigms.

Beneficence↗
PubMed2006

Preventive ethics for including women of childbearing potential in clinical trials.

OBJECTIVE: We present a preventive ethics approach for including women of childbearing potential in clinical trials. STUDY DESIGN: We explain the concept of preventive ethics and identify its implications for study design, the informed consent process, and study management. RESULTS: We identify and address ethically significant questions for investigators and institutional review boards to address, to responsibly enroll women of childbearing potential in clinical trials. These questions concern preventive ethics for study design, for the informed consent process, and for study management. Distinctive components of this preventive ethics approach include the distinction between directive and nondirective counseling, the recognition of the concept of moral risk for women as research subjects, and the distinction between professional and individual conscience. We identify ethical considerations for physicians considering referral of their patients to clinical trials. CONCLUSION: A comprehensive, preventive ethics approach to the ethical challenges in clinical trials related to the prevention and occurrence of pregnancy is essential for responsibly enrolling women of childbearing potential.

Adolescent↗
PubMed2005

Ovarian dysgerminoma associated with Pseudo-Meigs' syndrome and functioning ovarian stroma: a case report.

BACKGROUND: We present the first case of an ovarian dysgerminoma complicated by pseudo-Meigs' syndrome. Furthermore, this is the fourth reported case of ovarian dysgerminoma with functioning ovarian stroma resulting elevated androgen levels preoperatively. CASE: A 25-year-old white female was referred to our department for abdominal swelling and a rapidly enlarging abdominal mass. Chest X-ray showed massive right pleural effusion. Abdominopelvic CT scan showed a left adnexal solid mass and ascites. Preoperative abnormally elevated hormone levels were as follows: free testosterone 7.7 pg/mL, androstenodione 13.6 ng/mL, and cortisol 29.4 microg/dL. Left salpingo-oophorectomy and wedge resection of the right ovary were performed. Final histopathological investigation of the left ovary was dysgerminoma associated with stromal luteinization. CONCLUSION: Dysgerminoma should be considered in the differential diagnosis in a young patient with a pelvic mass, ascites, and pleural effusion and preoperative counseling should be directed accordingly. In addition, dysgerminomas may be accompanied by ovarian stromal luteinization and steroid hormone production, which occasionally result in chemical or clinical hyperandrogenism.

Adult↗
PubMed1984

Ultrasonographic antenatal diagnosis: will it change the spectrum of neonatal surgery?

The outcome of 139 fetuses with anatomical abnormalities diagnosed by ultrasonography (out of 15,180 examinations) at our institution during the last 6 years was reviewed. Of these, 56 were diagnosed before 21 weeks gestational age and 83 thereafter. Fifty-four had anomalies of the central nervous system. Of these 27 were diagnosed early. Twenty-six had anomalies of the genitourinary tract, 11 diagnosed early. Four had anomalies of the musculoskeletal system diagnosed early in 3. Thirty-seven had miscellaneous anomalies and early diagnosis was made in 6. Only the early pregnancies were terminated, 38 in number. The fetal diagnosis was clearly confirmed in 33. Of particular interest were the 18 fetuses with anomalies of the gastrointestinal tract and abdominal wall. There were nine early diagnoses. The pregnancy was interrupted in seven. In all the diagnosis was confirmed. Five of these had associated anomalies. Among the 9 fetuses whose anomalies were diagnosed late, 3 had associated anomalies and died shortly after birth before corrective surgery. In all, two fetuses with abdominal wall defects had no detectable associated anomalies and were potentially correctable but the pregnancies were terminated. With earlier, accurate imaging diagnosis possible, special attention has to be directed toward multidisciplined counseling (including a pediatric surgeon) for ultimately satisfactory fetal-neonatal salvage. Otherwise the spectrum of neonatal surgical pathology could be seriously altered.

Abdominal Muscles↗
PubMed1986

Prevention of childhood obesity.

The increasing prevalence of childhood obesity, its attendant morbidity, and the limited success of therapy mandate increased attention to preventive approaches. Environmental and family variables serve to identify families with children at risk for the development of obesity. Although the behavioral correlates that link these risk factors to childhood obesity remain unclear, inactivity and increased dietary intake of fat appear at this time to be the most logical foci for preventive interventions. Television viewing, which promotes both increased food consumption and reduced activity, represents a major concern at which counseling should be directed.

Adolescent↗
PubMed1984

The effects of coronary bypass surgery on female sexual, psychological, and vocational adaptation.

This paper reports the first study of female sexual, psychological, and vocational adaptation to coronary artery bypass surgery (CABG). Semistructured interviews were used to obtain data on 17 women undergoing CABG. Four time periods were examined: prior to and after the onset of cardiac symptoms; four months and one year after CABG. Female sexual response differs from what is known about male adaptation to CABG in three ways: 1) women did not demonstrate a significant and profound decline in frequency of intercourse one year after surgery; 2) the component most vulnerable to disruption in women is desire, in men it is arousal; 3) women do not harbor the sexual fears commonly seen in men such as sudden death during intercourse or performance anxiety. Psychologically, women fared better than men, but were less likely to return to work. This indicates that more attention should be directed toward vocational counseling of working women undergoing CABG.

Adaptation, Psychological↗
PubMed2003

Professional and personal attitudes about access and confidentiality in the genetic testing of children: a pilot study.

The ability to perform predictive genetic testing of children raises ethical concerns regarding whether and when to test and the disclosure of results. Semi-structured interviews with a convenience sample of pediatricians (12) and geneticists (13) were conducted to see how they would react to parental requests for predictive genetic testing of their children, and their attitudes about testing their own children. We also asked about disclosure attitudes and practices for their patients' relatives and within their own families. Respondents would provide predictive genetic testing for most conditions, yet were less likely to seek this information about their own children. Respondents believed it was very important for patients to share some types of genetic information with relatives, and were directive in their counseling about intrafamilial disclosure, especially within their own families. Although respondents would almost never breach patient confidentiality, many would breach confidentiality within their own families. Health care professionals distinguish between their professional and personal roles with regard to issues of access and confidentiality in predictive testing of children. They are willing to provide greater access and more confidentiality for their patients than within their own families.

Access to Information↗
PubMed1999

Spontaneous bilateral cornual uterine dehiscence early in the second trimester after bilateral laparoscopic salpingectomy and in-vitro fertilization: case report.

A bilateral cornual uterine dehiscence is reported, which occurred 14 weeks after in-vitro fertilization (IVF) in a patient having a medical history of previous bilateral salpingectomy via laparoscopy. Uterine rupture is a rare obstetric complication usually occurring during the third trimester of pregnancy within a uterus which has previously undergone an operation. Ectopic pregnancy is a well known complication of IVF. Post-salpingectomy cornual localization with rupture has also been published. Possible causes are discussed and the attention of the counselling physician is directed to the necessary awareness of such a complication in this high risk population. The reported case is an extreme rarity: a similar case has not been previously published in the literature.

Adult↗
PubMed1994

Cystic fibrosis in the southern Midwest United States: molecular characterization of the common mutations.

The identification of different mutations that cause cystic fibrosis in the people of Kansas and Oklahoma has been performed by examining 124 independent cystic fibrosis genes for the 14 most commonly mutated loci. The delta F508 3bp deletion represented 79% of the alleles, and 7% of the remaining alleles were found to harbor the mutations of R553X, G542X, or G551D. None of the remaining 10 common mutations were identified. This pattern of results contrasts with the patterns found in major cities of the United States. The ethnic diversity in these cities is much greater than in the southern Midwest region, and the remaining mutations, therefore, may represent specific ethnic contributions absent in the Midwest population studies. These results directly affect the counseling given to the Midwest patient and impact on any strategies for screening.

Alleles↗
PubMed1987

Task versus socioemotional behaviors in physicians.

This paper investigates associations among physicians' task-oriented and socioemotional behaviors during the medical encounter. The study is an analogue, using as source data the audiotapes and transcripts of two standardized patient cases presented by trained patient simulators to 43 primary care practitioners. Transcripts were scored for physician proficiency and were content-analyzed to assess the process of communication and information content. Physicians' speech errors were counted, and vocal affect ratings were made of filtered audiotape excerpts. Physician communications reflected by these measures were classified as task-oriented or socioemotional. Findings indicated: 1) Most aspects of physician style were reliable across visits. 2) Physicians adopted either a patient-oriented or a physician-oriented approach to task performance, as characterized by giving information and counseling versus giving directions and asking questions, respectively. 3) Verbal and nonverbal socioemotional measures were not related. 4) Physicians tended to adopt either a style characterized by information-giving and proficiency or a social orientation with patients. 5) Physicians who were more medically informative had more interested and anxious voices compared with the less informative physicians. Thus, although the more medically informative physicians spent less time making socioemotional utterances, they had a voice quality that may compensate for that neglect.

Affect↗
PubMed2006

When legal worlds collide: from research to treatment in hereditary cancer prevention.

This paper critically examines the legal and ethical dilemma in the institutionalization of a prevention and treatment technology on hereditary non-polyposis colorectal cancer (HNPCC) in Finland. Current medical practice and legislation support the notion of non-directiveness in genetic counselling, patient autonomy and personal privacy. Clinical doctors in Finland, however, proposed that a research register of HNPCC carriers should be nationalized through a legal mandate, which would require all carriers to be identified on the basis of the mutation, but also provide a national healthcare and counselling infrastructure for preventive treatment. This paper argues that although such a register would undermine personal autonomy and privacy, there should be a strong incentive by the state to intervene from a preventive health perspective. Such a position would be contrary to current medical ethics and legal practice, but it would ensure that all patients receive equal access to information, screening and treatment, as well as help to reduce mortality rates.

Colorectal Neoplasms, Hereditary Nonpolyposis↗
PubMed2000

Distribution of seizure precipitants among epilepsy syndromes.

PURPOSE: Previous studies of patient-reported seizure precipitants have not evaluated whether different epilepsy syndromes are differentially affected. METHODS: Patients of a tertiary-care epilepsy center were consecutively surveyed with the use of a standardized questionnaire that lists precipitants that might trigger or exacerbate seizures (alcohol, caffeine, fasting, fatigue, fever or illness, flashing lights, heat or humidity, menstrual cycle, sleep, sleep deprivation, emotional stress, unknown, or other). Patients were classified into epilepsy syndromes according to International League Against Epilepsy criteria. Age and gender within groups defined by major precipitants were compared. Pearson's correlation was performed to evaluate common patterns of precipitants. RESULTS: Of 400 patients, 62% cited at least one precipitant. In order of frequency, stress (30%), sleep deprivation (18%), sleep (14%), fever or illness (14%), and fatigue (13%) were noted by at least 10% of patients. Stress, fatigue, and sleep deprivation positively correlated, but sleep tended to negatively correlate with other major precipitants. Rankings of precipitants varied within epilepsy syndromes, with patients with temporal lobe epilepsy citing sleep infrequently compared with patients with other epilepsy syndromes. Menstrual effects were ranked highly within major precipitants among women over age 12 and were especially noted by women with temporal lobe epilepsy (28%). CONCLUSIONS: Most patients with epilepsy identify a precipitant that triggers or exacerbates seizures. The high correlation of stress, sleep deprivation, and fatigue suggests that they act through common mechanisms to worsen seizure control. Through identification of the effect of both endogenous and exogenous precipitants among syndromes, more research and counseling can be directed to specific precipitants.

Adolescent↗