Practice variability in prenatal genetic counseling

This study demonstrated that the content of prenatal genetic counseling sessions varied from counselor to counselor and from center to center. The study was designed to examine which specific issues were included by genetic counselors in prenatal genetic counseling sessions, and to determine which factors led genetic counselors to include or exclude this information from such sessions. Data were collected by randomly surveying 200 full, master degree members of the National Society of Genetic Counselors (NSGC). Respondents provided information by deciding which of 45 specific issues they would include in a standard prenatal genetic counseling session, and which one factor from a bank of 11 factors most accurately described the reason for this decision. The results indicated that the issues included/excluded from sessions varied widely among genetic counselors. The results also indicated that Patient Education/Informed Decision Making (34.5%) played the largest role in decision making overall, with Standard at Center/Departmental Policy (17.6%), Personal Experience/Preference (12.4%), and Applicability (10.9%) serving as the next three most important reasons for including or excluding issues from prenatal genetic counseling sessions.     

Genetic counseling for a family with two distinct anomalies: A case report of a neural tube defect and 5p- syndrome in a fetus

A couple presented for genetic counseling because of an elevated maternal serum alpha fetoprotein. Ultrasound examination revealed the presence of a neural tube defect. The couple declined an amniocentesis, but chose serial ultrasound evaluations instead. Ultrasounds eventually identified microcephaly, but the couple continued to decline amniocentesis. After the child's birth, the diagnosis of 5p- syndrome was made. The couple's decision not to have an amniocentesis allowed the family their right to autonomy; however, prenatal chromosome analysis would have provided this couple with a great deal more prognostic information. We discuss the conflict between a counselor's duty to respect a client's freedom vs. duty to care for a client's welfare. We address issues of nondirective counseling and the need for more studies looking at the decision-making process in prenatal diagnosis.     

Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling

Genetic counseling for Gaucher disease is complicated by the vast degree of clinical heterogeneity encountered in the disorder. Recent advances in our understanding of the molecular genetics of Gaucher disease are particularly relevant to genetic counseling. Although the identification of mutations in the glucocerebrosidase gene has enabled genotypic screening of Gaucher patients, the ability to reliably predict patient outcome on the basis of DNA studies is often limited. An appreciation of both the spectrum of clinical manifestations in Gaucher patients and the limitations of the available genotypic information is necessary when counseling patients, families and at-risk individuals.     

An abbreviated history of the International Stress Management Association (ISMA)

The American Association for the Advancement of Tension Control was founded in 1973 as an interdisciplinary effort encompassing the fields of dentistry, education, medicine, physical therapy, psychology, and speech pathology. The broad purpose was to facilitate the acquisition, dissemination, and application of sound knowledge for the benefit of society throughout the world. Annual meetings were held through 1978 with dues-paying members numbering almost 1000. Name changes were first to the International Stress and Tension-Control Association and then to the International Stress Management Association (ISMA) whereupon international meetings were held in 1979, 1981, 1983, 1988, and 1992. ISMA is flourishing, with meetings planned for The Netherlands (1995) and Australia (1996).     

Genes and family environment in familial clustering of cancer

Familial clustering of a disease is defined as the occurrence of the disease within some families in excess of what would be expected from the occurrence in the population. It has been demonstrated for several cancer types, ranging from rare cancers as the adenomatosis-coli-associated colon cancer or the Li-Fraumeni syndrome to more common cancers as breast cancer and colon cancer. Familial clustering, however, is merely an epidemiological pattern, and it does not tell whether genetic or environmental causes or both in combination are responsible for the familial clustering. Familial clustering may be due to genetic predisposition to the disease, but exposure to environmental factors — shared by members of some families, but not by members of other families — may also cause familial clustering and hence mimic genetic inheritance in the study of nuclear families. Based on assumptions regarding the individual steps in the biological process starting with exposure to carcinogens and ending with death from disseminated cancer we suggest that genetic and environmental factors may both be involved in most of these steps. The present paper focuses on research methodologies necessary to discriminate between the effect of genes and family environment in the development of cancer.     

Quantitative CT scan studies in aphasia. I. Infarct size and CT numbers

Infarct si?e (number of 1-mm² pixels in the lesion) on CT scans of 30 aphasia patients was obtained with a semiautomated computer program. The mean number of lesion pixels present per slice containing lesion was approximately 500 for mild aphasias (transcortical motor and conduction), 700 for Wernicke's, 1000 for Broca's, 1500 for mixed, and 2000 for globals. These differences were significant for $\text{11}\text{15}$ of the group pairwise comparisons. When lesion locus was controlled for in the anterior/posterior plane, 73–100% of the aphasia patients were correctly classified as to type of aphasia by a discriminant analysis utilizing only the number of lesion pixels present on two CT slices. Different slice combinations were used for different aphasia group comparisons. There was a significant correlation between severity of aphasia and lesion size. There was a significant correlation between lesion size and the CT numbers in the lesion. This type of analysis may be useful to predict the prognosis for recovery potential in aphasics who have CT scans performed at 2 months poststroke.     

A dialogue on Zeno's paradox of Achilles and the tortoise

The five participants in this dialogue critically discuss Zeno of Elea's paradox of Achilles and the tortoise. They consider a number of solutions to and restatements of the paradox, together with their philosophical implications. Among the issues investigated include the appearance-reality distinction, Aristotle's distinction between actual and potential infinity, the concept of a continuum, Cantor's continuum hypothesis and theory of transfinite ordinals, and, as a solution to Zeno's puzzle, the distinction between infinite and indeterminate or inexhaustible divisibility.