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Biomedical subjects

E Cotlier

Publications and source records attributed to E Cotlier.

At least 73 records · Page 4Linked to original sources
PubMed1975

Ceramides of human normal and cataractous lens.

Ceramides were quantitatively isolated from human normal and cataractous lens by solvent extraction, silicic acid chromatography, thin-layer chromatography, and gas-liquid chromatography. Only two species of ceramides with normal fatty acids were detected. In the mature cataracts, there was an increase in palmitate and nervonate at the expense of the other fatty acids. Due to the increase of 24 : 1, the ratio of 24 : 1/24 : 0 increased significantly from normals to cataracts. Sphinganine was the major long-chain base, but 4-sphingenine was also present. The total amount of ceramides in the immature and mature cataracts was 1.8 and 3.0 times higher than the normals of the same age group. Such an increase does not seem to be the result of an age-dependent process.

Age Factors↗
PubMed1975

Fabry disease: diagnosis by alpha-galactosidase activities in tears.

The enzymatic diagnosis of hemizygotes with Fabry disease and heterozygous carriers was accomplished by the fluorometric determination of alpha-galactosidase activities in tears. Two components of total alpha-galactosidase activity were differentiated by their relative thermostabilities and by chromatography on DEAE-cellulose. The major component, alpha-galactosidase A, was thermolabile and represented approximately 90% of total activity; the remaining activity was thermostable, eluted at a slightly higher salt concentration and was designated alpha-galactosidase B. A single, symmetric pH optimum was observed for total alpha-galactosidase activities from heterozygotes and normal individuals, whereas the total activity from hemizgotes, which was about 10% of that in normal controls, had a broad pH profile, identical to those for alpha-galactosidase B activities from all individuals studied. The apparent Km values for total activities were 3.2, 4.0, and greater than 13 mM for normal individuals, heterozygotes, and hemizygotes, respectively. In contrast, apparent Km values for alpha-galactosidase B activities were greater than 13 mM for all individuals, further suggesteng that the residual activity in hemizygotes with Fabry disease represented the alpha-galactosidase B component. of the potential inhibitors studied, alpha-D-melibiose was found to competitively inhibit total alpha-galactosidase activity (Ki approximately 10 mM). These studies demonstrate that tears provide an easily obtainable source of freshly secreted enzyme for the diagnosis of hemizygotes and heterozygotes with Fabry disease and suggest that tears may be useful for the diagnosis of other inborn errors of metabolism.

Drug Stability↗
PubMed1975

Marfan-like syndrome with lens involvement. Hyaloideoretinal degeneration with anterior chamber angle, facial, dental, and skeletal anomalies.

An autosomal dominant syndrome with Marfan-like features was found in a black pedigree. Eye findings included cataract, lens colobomas, dislocated lenses, myopia, hyaloideoretinal degeneration, and abnormalities of the anterior chamber angles. Facial and dental anomalies included slightly underdeveloped bridge of the nose, protruding maxilla, and dental malocclusions. Selected members of this pedigree showed dolichestenomelia or arachnodactyly or both. Good visual prognosis resulted after (1) cataract or dislocated lens surgery and (2) prophylactic therapy of retinal holes and degeneration.

Abnormalities, Multiple↗
PubMed1975

Effects of lysophosphatidyl choline and phospholipase A on the lens.

Lenses incubated for 24 or 63 hours in media containing either lysophosphatidyl choline or phospholipase A gained Na+ ions and water. Electrolyte imbalances and damage to lens fiber membranes occurred at lysophosphatidyl choline and phospholipase A concentrations of 7.5 mug per milliliter and 0.25 mug per milliliter, respectively. Intravitreal injection of 250 mug of lysophosphatidyl choline or 0.4 mug of phospholipase A induced posterior subcapsular cataracts which progressed to maturity only in the latter instance. This is the first demonstration of the cataractogenic effects of a naturally occurring aqueous humor phospholipid or its generating enzyme.

Animals↗
PubMed1975

Cavernous hemangioma of the retina: report of four cases.

Four patients had cavernous hemangiomas of the retina. The lesions, which usually occur in asymptomatic individuals, are unusual hamartomas comprised of saccular aneurysms containing venous blood and located on the surface of the retina or at the optic nervehead. Two patients had photocoagulation to destroy the lesions. In one patient, the lesion was totally destroyed after treatment to it and to the surrounding retina; in the second patient, a portion of the lesion had enlarged greatly when examined 5 years after photocoagulation. The hemangiomas of the other 2 patients have been observed without therapeutic intervention--the course we prefer for the majority of cases.

Adult↗