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Biomedical subjects

E J Gardner

Publications and source records attributed to E J Gardner.

At least 37 records · Page 2Linked to original sources
PubMed1982

Numerical and structural chromosome aberrations in cultured lymphocytes and cutaneous fibroblasts of patients with multiple adenomas of the colorectum.

Excessive random loss and gain of simple chromosomes at the diploid and tetraploid levels, and numerous chromosomal aberrations, have been observed in lymphocytes and fibroblasts, cultured from Gardner syndrome and familial polyposis coli patients and children at risk for multiple adenomas. This increase in numerical and structural aberrations seems to represent a general instability of chromosomes in the lymphocyte and fibroblast nuclei of patients with multiple adenomas in the colorectum. A consistent heteromorphism of chromosome No. 2 homologous tentatively identified as a deletion was observed in all 17 patients with multiple adenomas in the colorectum, and two younger people of 13 and six years of age who are at risk for Gardner syndrome but do not have colorectal polyps. The chromosome No. 2 aberration was not observed in two symptomatic patients with occasional discrete colorectal adenomas.Eighteen controls who did not have Gardner syndrome nor familial polyposis coli did not show the structural aberration in chromosome No. 2 nor chromosome instability.

Adenoma↗
PubMed1981

Spontaneous mesenteric fibromatosis in Gardner's syndrome.

Mesenteric fibromatosis has been reported in frequent association with familial polyposis and with Gardner's syndrome. This vague "benign" process has been characterized as a postsurgical phenomenon with low morbidity. Two cases of spontaneous mesenteric fibromatosis, noted at the time of original laparotomy for colectomy in Gardner's syndrome patients, are reported. No history of abdominal trauma was present, and both have well-documented Gardner's findings. A 32% incidence of desmoid reaction is reported among affected members of the original Gardner's syndrome Kindred 109; five or 55% of these patients had the mesenteric form of the process. The potential fatal course of the mesenteric disease is emphasized.

Adult↗
PubMed1981

Adrenal adenomas in a patient with Gardner's syndrome.

Gardner's syndrome is an autosomal dominant condition characterized by multiple colorectal polyposis, associated with various soft- and hard-tissue tumors. The occurrence of adrenal adenomas in patients with the syndrome has not been fully appreciated. The following is a report of a member of the original Utah kindred #109, first described in the early 1950's who was found at autopsy to have bilateral adrenal adenomas. A review of the literature resulted in the identification of six cases with adrenal adenomas and one with a primary adrenal carcinoma. The association with the syndrome of these adrenal tumors, as well as other endocrine tumors, especially thyroid tumors, is discussed.

Adenoma↗
PubMed1980

Gastrointestinal Polyposis: Syndromes and Genetic Mechanisms.

Adenomas and hamartomas, two genetically transmitted histologic types of gastrointestinal polyposis, are associated in syndromes with extragastrointestinal manifestations. Adenomas that predispose to adenocarcinoma are basic to familial polyposis coli, the Gardner syndrome and the Turcot syndrome. Gastrointestinal polyps and extragastrointestinal lesions serve as a warning, providing time for diagnosis and treatment of adenomas to prevent their malignant transformation in patients and their relatives. Hamartomas with no malignancy potential, but having a tendency toward bleeding and bowel obstruction, are associated with the Peutz-Jeghers syndrome, juvenile polyposis, multiple hamartoma syndrome, basal-cell nevus syndrome and the Cronkhite-Canada syndrome. Most of these lesions and syndromes follow the inheritance pattern of a single autosomal dominant gene.

Adenoma↗
PubMed1979

Desmoid tumors and mesenteric fibromatosis in Gardner's syndrome: report of kindred 109.

Kindred 109, from which Gardner's syndrome was first described, now has 224 members, 28 of whom have inherited the syndrome. Among the group of 28, desmoid tumors or mesenteric fibromatosis or both have developed in eight (29%). In four patients, the fibrous dysplasia appeared to originate in postsurgical abdominal incisional scars; in two of these cases, the mesenteric involvement resulted in death. In one patient, the process was present in the mesentery at the original operation. In three patients, the fibrous dysplastic lesions were extraincisional, with no known trauma associated with their occurrence.

Abdominal Muscles↗
PubMed1979

Hereditary multiple exostoses: clinicopathologic features of a comparative study in horses and man.

Investigation of hereditary multiple exostoses in horses under controlled research conditions for 10 years and epidemiologic studies that have spanned up to five generations of human families contain notable similarities. The present study demonstrated that a single dominant autosomal gene is responsible for hereditary multiple exostoses in horses and man. Affected individuals transmit this trait to approximately 50% of their progeny, whereas nonaffected individuals do not transmit the condition to their offspring. The tumors in affected horses are most often present at birth. They tend to be bilaterally symmetrical and vary in size, shape, and texture. Those on the legs generally do not appear to enlarge as the animal matures, but others, notably those on the ribs and scapulae, enlarge until skeletal maturity, Histologically, the tumors appear as typical ostosteochondromas in both horse and man. Sarcomatous transformations have not yet been detected after 10 years in horses, although such changes are occasionally reported in the similar disease condition in man. The remarkable similarities of hereditary multiple exostoses in the horse to that in man provide an opportunity for comparative biomedical study.

Animals↗
PubMed1978

The Gardner syndrome: a cell culture study on kindred 109.

In vitro studies on skin cultures established from 49 members from Kindred 109, in whom the Gardner syndrome was first delineated, showed that increased in vitro tetraploidy occurred only in those cultures derived from branches with the full expression of the Gardner gene (colorectal polyps with multiple extracolorectal benign tumours) and not in those derived from branches showing only extracolorectal lesions. Increased in vitro tetraploidy appeared to identify only those family members at risk who had, or would ultimately be expected to show, full expression of the Gardner gene including colorectal polyps which become malignant.

Aneuploidy↗
PubMed1978

Nature of the vitamin K-dependent CO2 fixation in microsomal membranes.

Vitamin K is a component of a membrane-bound enzyme complex which catalyzes the posttranslational carboxylation of peptide-bound glutamate to form the gamma-carboxyglutamate (Gla) residues of prothrombin. The reaction requires reduced vitamin K, bicarbonate, oxygen, and a carboxylase, and does not require ATP. In a Triton X-100 solubilized carboxylase system, it was found that the naphthoquinone ring structure is essential for activity, as is the 2-methyl group. Menaquinone homologs from MK-1 to MK-4 all had carboxylase activity, whereas menadione was inactive. However, dithiothreitol and other thiols form thioethers with menadione, which restores considerable carboxylation activity to the provitamin. Hydrogenation of the beta-gamma double bond in phylloquinone reduced its activity only slightly. The active species of "CO2" utilized in this carboxylation is CO2 and not bicarbonate. Ribosomes contain Gla residues and are labeled with CO2 when whole microsomes are incubated with CO2 in the presence of NADH and vitamin K. About 25% of the activity is releasable with puromycin, suggesting that Gla residues are formed on both the nascent chains and the structural proteins of ribosomes. The deoxycholate-solubilized carboxylase system can be dialyzed to yield membranous vesicles with enhanced carboxylase activity. The warfarin-binding protein from normal rats, but not that from warfarin-resistant rats, further enhances the carboxylase activity of these reformed vesicles.

1-Carboxyglutamic Acid↗
PubMed1977

Vitamin K-dependent carboxylation of peptide-bound glutamate. The active species of "CO2" utilized by the membrane-bound preprothrombin carboxylase.

Vitamin K participates in the post-translational carboxylation of peptide-bound glutamate to form the gamma-carboxy-glutamate residues of prothrombin. The reaction requires reduced vitamin K, bicarbonate, oxygen, and a membrane-bound carboxylase. The active species of "CO2," i.e. CO2 or HCO3-, utilized in this carboxylation was determined by the low temperature method of Filmer and Cooper ((1970) J. Theor. Biol. 29, 131-145), taking advantage of the fact that menaquinone-2, in contrast to phylloquinone, is very active at 10 degrees. Microsomes from livers of vitamin K-deficient rats, were incubated in the presence of cycloheximide, avidin, NADH, menaquinone-2, 1 mM acetazolamide (to inhibit carbonic anhydrase), and either 14CO2 or H14CO3-. At 1-min intervals aliquots were removed from the reaction mixture. gamma-Carboxyglutamate was isolated from these samples by ion exchange chromatography after alkaline hydrolysis. After 1 min the incorporation of 14CO2 into gamma-carboxyglutamate was 8 to 10 times as great as that found with H14CO3-. When the carbonic anhydrase inhibitor was omited (with or without addition of exogenous carbonic anhydrase) the two incorporation curves approximated each other at a rate near that exhibited by bicarbonate alone. Similar results were obtained in a microsomal carboxylase system solubilized with Triton X-100. It is concluded that CO2 is the active species of "CO2" initially participating in the vitamin K-dependent carboxylation of preprothrombin and that neither ATP nor biotin is required for the reaction.

Animals↗
PubMed1977

Penetrance and expressivity of the gene responsible for the Gardner syndrome.

The Gardner syndrome is an autosomal dominant condition characterized by multiple polyposis of the colon, associated with various soft- and hard-tissue tumors. Our original kindred, first reported in the early 1950's has been updated and serves as the basis for a discussion of the penetrance and expressivity of the gene responsible for the syndrome. The family consists of 188 members spread over six generations, with 28 individuals clearly documented as having the syndrome. Using two different methods of calculating penetrance, the responsible gene was found to be fully penetrant. This observation was confirmed by an analysis of 160 additional sibships from the literature. This estimation of penetrance is considerably higher than has been previously reported. The expressivity of the gene, however, is quite variable, and this is illustrated using examples from both our kindred and the literature.

Colonic Neoplasms↗
PubMed1975

The compound eye in the opaque-eye phenotype of Drosophilia melanogaster.

The compound eye of the opaque-eye mutant of Drosophila melanogaster was investigated by means of electron microscopy to determine the morphological and physical properties of ommatidial elements. These elements in the mutant were found to differ from those of the wild-type flies in the following ways: (1) The cuticular lens was thinner than that of the control and lacked the typical lamellar construction. (2) The Semper cells were irregular in shape and contained many membranous inclusions similar to those found in degenerating cells; also their nuclei contained virus-like particles. (3) The primary pigment cells contained an abundance of drosopterin-containing granules which were lacking in those of wild-type flies. (4) The superior and inferior central photoreceptor cells were misplaced and their rhabdomeres evidenced some degeneration. (5) The secondary pigment cells had only one type of pigment granules instead of the three types found in the control. These morphological changes in ommatidial elements induced physical abnormalities such as the apparent opaqueness of the eye, the lack of a pseudopupil, the probable disability of the photoreceptor cells to respond to light and the inability of the dioptric system to produce utilizable geometric images.

Animals↗