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Biomedical subjects

M M Kaback

Publications and source records attributed to M M Kaback.

At least 73 records · Page 4Linked to original sources
PubMed1977

Community-based genetic education, communication channels, and knowledge of Tay-Sachs disease.

In the planning of community-based genetics education campaigns, we cannot assume the existence of a single-minded, passively receptive public, simply waiting to be "educated." Rather, we must consider the impact of preexisting circumstances, notably the differential life-status conditions, the special concerns, and individual motivations of the persons to be educated on their search for information that matters to them. Messages promulgated by mass media educational campaigns on issues in genetics typically do not fall on a homogeneous mass of equally responsive ears and eyes, even if the target population superficially appears to be homogeneous and preselected. Especially institutional sources, (e.g., schools and general education) for males, and social relations (e.g., informal contact among friends) for females are crucial strategic variables affecting transmission and reception of knowledge of Tay-Sachs disease.

Communication↗
PubMed1976

Tay-Sachs screening: motives for participating and knowledge of genetics and probability.

A highly-educated, socially aware group of persons presented themselves for Tay-Sachs screening having learned about it mainly from friends, newspapers, radio, and television but not from physicians or rabbis. After learning that screening was possible and deciding that it is in principle a good idea, and after discussing it with relatives and friends but not with physicians and rabbis, they presented themselves for the test. Although the participants knew that Tay-Sachs is a serious disease and that Jews are vulnerable, few of them knew much about the genetics of the disease, its frequency, or the incidence of the carrier state. This experience of screening for Tay-Sachs carriers suggests the need for physicians to learn the relation of genetics to preventive medicine, and for the public to learn more about the biology of man.

Adult↗
PubMed1976

Tay-Sachs screening: social and psychological impact.

Participants in two Tay-Sachs screening programs were generally satisifed with the organization of the tests and the results. There was no evidence of adverse impact on reproductive plans or interpersonal relations, and the respondents professed to believe in the value of screening. While the carriers discussed their condition freely with others and were no less favorable to the idea of screening than the noncarriers, about one-half of their number expressed discomfort in being told they were heterozygotes. These feelings were allayed by counseling, but there was evidence of some residual unease. It is suggested that this anxiety would be less prominent and more easily reduced if screening were done under conditions of ordinary primary medical care rather than outside the conventional system.

Adult↗
PubMed1975

Some influences on public participation in a genetic screening program.

To identify the psychosocial factors associated with voluntary cooperation in mass genetic testing, stratified random samples of 500 participants and 500 nonparticipants were drawn from an identified at-risk population for Tay-Sachs disease. Participants were relatively younger and better educated, reported higher levels of perceived susceptibility to being a carrier, and also stated more often that the impact of learning of being a carrier would be low. Participants were also more likely to indicate they would not alter plans for future progeny. Recommendations are made for enhancing participation in future genetic screening programs of this type.

Adolescent↗
PubMed1975

Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation.

A kindred with an X-autosome translocation and differential inactivation of the X chromosome is described. The phenotypically normal mother has a reciprocal translocation [46,X,rcp(X;9) (q11;q32)] while the daughter's karyotype is unbalanced [46,X,--X,+der(9),rcp(X;9) (q11;q32)mat], indicating adjacent-two type of segregation in the mother. In the mother's cells the normal X is late replicating, while in the daughter's cells almost the entire der(9) is late replicating, indicating the presence of autosomal inactivation. The daughter's abnormal phenotype can be explained by her sex chromosomal complement and the absence of effective trisomy 9. At this stage there is no simple explanation to account for all types of inactivation patterns encountered in the 14 balanced and 15 unbalanced cases of X-autosome translocations reported to date. Selection of X inactivation is not an inherent characteristic of the X chromosome per se, and it is not dependent on the direction of chromosomal exchange, as was suggested previously. Correlation of the phenotypic and cytogenetic features of these patients suggests a pattern of X and autosomal inactivation consistent with the least amount of genotypic and phenotypic imbalance in most cases. The data are most consistent with random X inactivation followed by selection of the most viable cell line.

Adolescent↗
PubMed1975

Tay-Sachs disease: high gene frequency in a non-Jewish population.

A non-Amish "Pennsylvania Dutch" semi-isolate was found to have a high frequency of Tay-Sachs gene. This high frequency could be ascribed to founder effect and may represent, in microcosm, how this mechanism could have produced the high gene frequency among Ashkenazi Jews.

Consanguinity↗