Biomedical subjects
A J Krush
Publications and source records attributed to A J Krush.
A genetic social worker's brief comments on the continued participation of families in birth defect research.
Explore the source record for details and available documents.
Hereditary polyposis coli. III. Genetic and evolutionary fitness.
The numbers of progeny born to 355 patients with heritable polyposis of the colon and to 315 related, but normal, subjects, all old enough to have completed their families, are presented, as well as data on 432 subjects still young enough to have more children. Two main indices are used: mean family size ("genetic fitness") and the complement of the extinction probability of the line ("evolutionary fitness"), both of which suppose a steady state. Point- and interval-estimates (the latter derived by an extension of Stigler's method) are furnished. It is estimated that the probability a new mutant gene will persist is one in four for Gardner syndrome, one in 20 for familial polyposis coli, and 0 for Peutz-Jeghers syndrome. There is evidence of bimodality in family size, suggesting voluntary infertility in a proportion of subjects. The data confirm our provisional working assumption that most families are completed by the time women are in their mid-40's and men in their mid-50's.
[Variability in the Peutz-Jeghers syndrome (author's transl)].
Explore the source record for details and available documents.
Dermatoglyphics in the Gardner syndrome.
Explore the source record for details and available documents.
Three varieties of hereditary intestinal polyposis.
Explore the source record for details and available documents.
Is Gardner syndrome a distinct genetic disorder?
Explore the source record for details and available documents.
The identification of individuals at high risk for large bowel cancer and the application of preventive measures in their management: chromosome studies in Gardner syndrome and familial polyposis.
The significance of chromosomal markers in linkage and assignment has been pointed out. The usefulness of linkage in disease prevention is discussed with the limitations of this approach.
Hereditary polyposis coli I: the diagnostic value of colonoscopy, barium enema, and fecal occult blood.
In families with one of the Mendelian hereditary polyposes, one can predict the proportion of patients at risk and thus obtain a denominator against which colonoscopy, barium enema, and fecal occult blood can be validated. Colonoscopy is more sensitive than barium enema. There were 42 positive colonoscopies, 12 positive barium enemas, both being positive in 10 of these. There were 141 negative enemas, 133 negative colonscopies, and 118 negative for both. Occult blood was positive in 30% of patients with polyposis, five to seven times more frequently than in those without evident polyposis. Colonoscopy detected polyposis in 30% of the progeny of affected people. The shortfall, compared with the 50% expected under the Mendelian hypothesis, is readily explained by removal of affected cases from the study by surgery or death from cancer.
The Gardner syndrome: a family study in cell culture.
The occurrence of tetraploidy was studied in skin cultures containing both epitheloid and fibroblastic cells derived from 137 members (28 clinically affected, 50 normals at risk and 59 normals not at risk) of 6 families with the Gardner syndrome (3 classical, 3 variant). The cultures from all 28 affected members showed increased tetraploidy. Among the 50 normal members at risk for inheriting the Gardner gene, the cultures from 19 had increased tetraploidy and those from 31 did not. Cultures from 56 of the 59 family members not at risk did not show increased tetraploidy. Although the families were divided into subgroups (classical and variant) on clinical phenotypes, no such subdivision could be made on the basis of increased tetraploidy in skin cultures.
Finding families in a six state area.
Explore the source record for details and available documents.
Carcinoma in the Gardner syndrome: a case report.
Carcinoma of the colon is commonly seen in the Gardner syndrome and familial polyposis of the colon. Therefore early detection of these symdromes in families and careful follow-up are important. During a study of families at high risk of developing colorectal cancer, an asymptomatic 19-year-old female was found to have the Gardner syndrome. Although barium enema examination was negative, colonoscopy revealed the presence of polyps; biopsy of one polyp revealed carcinoma-in-situ.
Familial occurrences of a variety of premalignant diseases and uncommon malignant neoplasms.
Explore the source record for details and available documents.
Dermatoglyphic peculiarities in members of a high-cancer-risk kindred.
Explore the source record for details and available documents.
Hereditary progressive atrioventricular conduction defect. A new syndrome?
Explore the source record for details and available documents.
Genetic factors in families with combined gastrointestinal and breast cancer.
Explore the source record for details and available documents.