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Biomedical subjects

R E Harris

Publications and source records attributed to R E Harris.

At least 145 records · Page 8Linked to original sources

Hereditary atrial septal defect. Update of a large kindred.

A large pedigree wherein members are predisposed to atrial septal defect (ASD) and associated cardiovascular anomalies has been studied. There were ten direct line relatives with ASD verified by cardiac catheterization and/or surgery and in one case by reliable medical history. The pedigree shows vertical transmission of ASD through four generations. Estimates of the genetic segregation ratio were near 50%, indicating that predisposition to ASD among family members was due to a deleterious autosomal dominant gene. Family members have also manifested other congenital heart anomalies, consistent with pleiotropic effects of the putative gene. Electrocardiograms in six ASD patients revealed an absence of prolonged P-R interval. In the light of prior studies showing prolonged P-R interval in familial ASD, we suggest the existence of at least two distinct hereditary varieties of ASD, one with and one without a prolonged P-R interval.

Adolescent↗

Management of familial breast cancer. I. Biostatistical-genetic aspects and their limitations as derived from a familial breast cancer resource.

Practical guidelines are given to promote decision-making logic by the physician in managing patients seeking consultation (consultands) because they may be at high familial risk for breast cancer and associated malignant neoplasms. The protocol is designed to aid in the assessment of patients who may become candidates for intensified cancer surveillance and/or prophylactic surgery. A resource comprised of 90 extended breast cancer-prone pedigrees provides the basis for these specific recommendations. The resource shows marked tumor heterogeneity among pedigrees, an approximate 50% incidence of breast cancer and associated malignancies among offspring of affected parents, and threefold higher risk for development of mammary carcinoma in the opposite breast of familial patients with unilateral disease than in sporadic patients. In utilizing this protocol, it is crucial that family history be highly accurate from the standpoint of genealogic relationships and pathologic tumor verification so that management recommendations may reflect sound risk factor assessment. Interpretation of familial risk factors should ideally be made by an informed medical-geneticist. All members of the medical team should then be appraised of familial risk and collectively engage in decision making with the consultand. We believe that this approach can foster more effective control of familial breast cancer.

Adolescent↗

Management of familial breast cancer. II. Case reports, pedigrees, genetic counseling, and team concept.

The lack of therapeutic progress, coupled with limitations in early breast cancer diagnostic surveillance, suggest the need for innovative control programs for this disease. We have provided certian practical criteria for prophylactic subcutaneous mastectomy based on family history, presence of precancerous diseases of the breast, and other breast cancer risk factors, and the attitudes, feelings, and emotional aspects of the patient, all of which temper decisions for the type of cancer surveillance program and/or prophylactic surgery.

Adult↗

Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma.

A familial cancer aggregation comprising sarcomas, brain tumors, leukemias, and carcinomas of breast, larynx, lung, adrenal, cortex, and other sites has been studied from a pathologic--genetic standpoint. Based upon sibships segregating for cancer, the genetic segregation parameter is estimated to be 45.6 +/- 11% which is compatible with that expected for a rare deleterious autosomal gene showing complete dominance. Pathologic review of 16 tumors by bright field microscopy revealed variable occurrences of intranuclear cytoplasmic invaginations, intranucleolar bodies, and acidophilic intracytoplasmic inclusions in eight lesions. Two tumors showed both intranuclear cytoplasmic invaginations and intranucleolar inclusions. Morphological findings coupled with the observed pattern and distribution of cancer in the subject kindred suggest that the cancer-prone genotype interacts with one or more exogenous factors in causing this familial tumor association.

Adolescent↗

Carcinoembryonic antigen (CEA) in the cancer family syndrome.

We present findings on plasma CEA in relatives and spouses from six kindreds manifesting the Cancer Family syndrome. The CEA distributions per se were transformed to square root CEA to correct for skewness and kurtosis. Significant effects of age and duration of smoking were adjusted for by linear regression. Relatives were classified as: 1) cancer patients, 2) individuals at high genetic cancer risk (one or more first-degree relatives affected, and 3) individuals at low genetic cancer risk (no first-degree relatives affected) for statistical comparisons. Unrelated spouses were also classified into corresponding groups according to their directline mate's status. Cancer patients and relatives at high genetic risk had significantly greater mean square root CEA than relatives at low genetic risk, and, surprisingly, unrelated spouses had mean levels of square root CEA which were similar to that in the corresponding cancer risk class of their direct-line mates. Our results suggest the existence of both a genetic and connubial effect on CEA, presumably due to a common environmental agent acting in concert with the degree of genetic predisposition to oncogenesis in this syndrome.

Carcinoembryonic Antigen↗

Multiple primary cancers and prolonged survival: familial colonic and endometrial cancers.

We describe features of multiple cancers in a small kindred wherein a cluster of tumors affecting various anatomic sites has been observed among eight directline relatives. Three of these individuals have had two or more primary malignancies, and one woman showed a remarkable tolerance to invasive cancer, having had four histologically verified neoplasms (cancers of the ovary, endometrium, and colon, and myelogenous leukemia). The constellation of tumors occurring at an early age among relatives of the kindred supports a genetic etiology.

Adenocarcinoma↗

The peripheral lymphocyte count as an aid in the clinical staging of lung cancer.

The association between disease staging and peripheral lymphocyte count (PLC) was studied in 178 patients with histologically verified lung cancer. Mean PLC varied inversely with the stage of disease (p less than .01). The mean values were 2821, 2217, and 1594 for Stages I, II and III respectively. Thoretical normal distributions were generated about the mean peripheral lymphocyte count for each stage. Relative frequencies of lung cancer staging based on the PLC are estimated utilizing these curves.

Adenocarcinoma↗

The incidence of group B beta hemolytic streptococcus in antepartum urinary tract infections.

Group B beta hemolytic streptococcus (GBBHS) is a potential pathogen for the urinary tract during pregnancy. At this medical center, 19 of 371 patients with urinary tract infection (5.1%) presented with Group B beta hemolytic streptococcus as the proven causative microorganism. This microorganism should not be considered only as a contaminant when isolated by urine culture.

Adolescent↗

Incidence of Staphylococcus aureus for an obstetric population.

The incidence of Staphylococcus aureus recovered from cultures of anterior nares was determined for personnel and patients of an obstetric and a neonatal unit. Among the hospital personnel, 10.2% harbored S. aureus. On admission to the hospital, 4% of the obstetric patients were identified as carriers of S. aureus and only 1.3% of the patients acquired the microorganism during hospitalization. The neonates of these mothers with S. aureus were not colonized during hospitalization. Subsequent bacteriophage typing indicated that microbial isolates were primarily in the Group 1 and Group 3 classifications of S. aureus.

Carrier State↗

Familial cancer: implications for surgical management of high-risk patients.

Knowledge of familial/genetic information about cancer risk involving at least 100 disorders could be utilized profitably by surgeons in their daily practice. Familial cancer of the breast, ovary, and colon, malignant melanoma, and testicular feminization syndrome, and masculinizing Turner's syndrome are discussed. Biological markers, an area of emerging research interest, have been considered for their cancer control potential. Prophylactic surgical implications for certain familial cancer have been given.

Androgen-Insensitivity Syndrome↗

Rubella antibody titer. The significance of low-titered rubella antibodies.

The hemagglutination inhibition (HAI) test is not mathematically precise and reproducible. Thus, it is critical to know whether or not the threshold titer (1 : 10) of detectable rubella antibody is indicative of true immunity. Three patients with a 1 : 10 HAI titer presented with subsequent rubella during gestation. Ninety postpartum patients with a HAI titer of 1 : 10 were vaccinated and the rubella antibody titers were reassessed. Seventeen percent of these patients responded to the vaccine challenge with an eightfold or greater rise in titer. Thus, we recommend that the patient with a low HAI titer (1 : 10) should be considered to have marginal immunity to rubella and should be vaccinated.

Adult↗

Corneal effects of intraocular air.

To resolve the apparent contradiction between Norn's work on human eyes suggesting that postoperative air protects the corneal endothelium and the work of Leibowitz on excised animal eyes suggesting that air damages the corneal endothelium, we have replicated Norn's findings in an animal model similar to that used by Leibowitz. Since fewer metabolically active cells may maintain corneal deturgesence even after cell loss we do not believe that Norn's work contradicts that of Leibowitz. We find that the eyes treated with air have significantly less corneal swelling.

Air↗