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Biomedical subjects

M Swift

Publications and source records attributed to M Swift.

At least 91 records · Page 5Linked to original sources
PubMed1980

A family with Peutz-Jeghers syndrome and bilateral breast cancer.

The proband and her paternal grandmother had bilateral breast carcinoma and the Peutz-Jeghers syndrome. An ovarian sex cord tumor with annular tubules was an incidental finding when oophorectomy was performed as treatment of the proband's premenopausal breast cancer. Because there are previous reports of breast cancer in patients with this syndrome, the Peutz-Jeghers gene may be associated with an increased risk of breast tumors.

Breast Neoplasms↗
PubMed1980

Clinical and pathological features of an autosomal recessive neuropathy.

Two siblings are described, ages 49 and 45 years, having a distinct hereditary motor and sensory neuropathy (HMSN) with severe peroneal nerve involvement. The neuropathic symptoms began in childhood. Both patients have sensorineural deafness. The proband was found to have a cardiac conduction abnormality in the absence of known ischemic heart disease. Electrodiagnostic studies were consistent with a demyelinating peripheral neuropathy. The presence of parental consanguinity and absence of affected individuals in succeeding or preceding generations suggested that the sensorimotor neuropathy in this family is inherited in an autosomal recessive manner. The sural nerve of the proband had significant loss of myelinated fibers and demyelination but few regenerating myelinated fibers and no onion-bulbs. The pathological findings, while nonspecific, are not characteristic of the hypertrophic, neuronal or intermediate types of HMSN.

Chromosome Aberrations↗
PubMed1980

Reassessment of cancer predisposition of Fanconi anemia heterozygotes.

The hypothesis that heterozygotes for the Fanconi anemia (FA) gene are predisposed to cancer was investigated by comparing the observed and expected numbers of cancer cases and deaths in 25 extended families of FA probands. This study demonstrated no overall excess of cancers of cancer deaths for any age or sex category of blood relatives and no unusual number of cancers among the obligate heterozygotes. Deaths from leukemia among blood relatives were fewer than expected. For bladder, stomach, and breast cancer there were more deaths and cases among blood relatives than expected, although the differences were not statistically significant. An excess of deaths at an early age from lung and stomach cancer was noted among the FA blood relatives. Among spouse controls there were fewer deaths than expected from bladder, stomach, and breast cancer; thus the expected numbers may be inappropriately high for this sample. Therefore, the question of predisposition to bladder, stomach, and breast cancer among FA heterozygotes remains unresolved.

Adolescent↗
PubMed1979

Congenital horizontal gaze palsy and kyphoscoliosis in two brothers.

In a sibship of 11, two brothers with a congenital complete horizontal gaze palsy developed severe kyphoscoliosis. No-one else in the family has a gaze palsy or comparable skeletal abnormalities. Since the parents are first cousins, an autosomal recessive mode of inheritance seems likely.

Adult↗
PubMed1979

Cancer in families with xeroderma pigmentosum.

In 31 families of xeroderma pigmentosum (XP) patients, significantly more blood relatives than spouse controls had had nonmelanoma skin cancer. These family data support the hypothesis that heterozygosity for XP genes may predispose persons to skin cancer, particularly in association with substantial exposure to sunlight.

Adult↗
PubMed1977

Growth of human skin fibroblasts in dialyzed fetal bovine serum.

Human diploid fibroblast cultures plated at or below a density of 2 X 10(3) cells per cm2 grew very slowly or not at all in MEM supplemented with 10% fetal bovine serum that had been dialyzed for 24 hr. Adding serine (0.2 mM) or pyruvate (1.0 mM) to MEM and 10% dialyzed serum restored growth to the level observed with 10% nondialyzed serum. Serine and pyruvate also were able to overcome partially the growth arrest induced by a reduced serum concentration (1 or 2%). Human fibroblast cultures grew very well in 100% fetal bovine serum that had been dialyzed against MEM. For cells grown in dialyzed serum, the final number increased with increasing serum concentration, in contrast to the well established toxic effects of high concentrations of nondialyzed serum.

Cell Division↗
PubMed1977

Testing the significance of risk estimates for the predisposition of heterozygotes to common diseases.

A maximum-likelihood method has been used previously to estimate, from family studies, the relative risk of common disorders for heterozygous carriers of genes for certain autosomal recessive syndromes. In this paper statistical significance of relative risk estimates was evaluated using critical values from computer-generated sampling distributions of the test statistic. In several practical cases a significance test based on the computer-generated distribution was more conservative than a test which assumed normality for the sampling distribution.

Genes, Recessive↗
PubMed1976

Mercury poisoning in a wild mink.

Mercury poisoning was diagnosed in a clinically-ill wild mink (Mustela vison) on the basis of clinical signs, histopathologic lesions and tissue mercury concentrations. The probable source of mercury was through ingestion of fish from the nearby South Saskatchewan River which is known to be contaminated with mercury. This is believed to be the first documented case of mercury intoxication of a wild animal in North America.

Animals↗
PubMed1976

Malignant neoplasms in the families of patients with ataxia-telangiectasia.

Ataxia-telangiectasia (A-T) is an autosomal recessive syndrome associated with a greatly increased incidence of malignant neoplasms in homozygous affected individuals. Heterozygotes for the gene for A-T are thought to comprise about 1% of the general population and, therefore, it is important to know whether this gene also predisposes the heterozygous carrier to cancers. Heterozygous carriers of this gene are common among the close relatives of patients with A-T, although individual carriers cannot be identified by any clinical criterion or laboratory test. For this reason, we compared the incidence of death from malignant neoplasms in 2 families of patients with A-T to that expected in a random sample of the general population. There were 59 deaths from malignant neoplasms in relatives dying before age 75, compared to 42.6 expected (p less than 0.02). For A-T heterozygotes younger than age 45, the risk of dying from a malignant neoplasm was estimated to be greater than 5 times the risk for the general population. A-T heterozygotes may comprise more than 5% of all persons dying from a cancer before age 45. The incidence of ovarian, gastric, and biliary system carcinomas and of leukemia and lymphoma was increased in these A-T families. Other neoplasms that may be associated with this gene in heterozygotes include pancreatic, basal cell, colonic, breast, and cervical carcinomas.

Ataxia Telangiectasia↗
PubMed1975

Growth of cultured cells from patients with Fanconi anemia.

Fibroblast cultures derived from skin biopsies of patients with Fanconi anemia had doubling times (mean of five lines: 30.3 +/- 0.2 hours) significantly longer than randomly selected normal controls (mean of nine lines: 22.9 +/- 0.4 hours). Control cultures grew more slowly in the enriched media RPMI 1640 and McCoy's 5A than in MEM; while a culture from a patient with Fanconi anemia grew more slowly only in McCoy's 5A. Differences in growth characteristics between Fanconi anemia and normal cell cultures may be useful in analyzing the metabolic error determined by the Fanconi anemia gene.

Adolescent↗