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Biomedical subjects

E Cotlier

Publications and source records attributed to E Cotlier.

At least 19 recordsLinked to original sources
PubMed1990

Camel lens crystallins glycosylation and high molecular weight aggregate formation in the presence of ferrous ions and glucose.

The incubation of camel lens cortex homogenate with 100 microM ferrous ions and 5.5 mM glucose under sterile conditions caused rapid protein aggregation, but little or no reaction was seen with either 100 microM ferrous ions or 5.5 mM glucose alone. The formation of glycosylated high molecular weight (HMW) protein aggregates was confirmed by light scattering studies, a decreased level of free -SH groups, incorporation of [14C]-glucose and elution of HMW protein aggregate just after the void volume of a Sephacryl S-1000 column. The bonding involved in the formation of these aggregates was found to be mainly disulfide in nature. Isoelectric focusing (IEF) in the presence and absence of reducing conditions indicated that gamma-crystallins may be involved in the formation of HMW protein aggregates. The modifications observed were found to mimic those seen in cataractous lenses.

Animals↗
PubMed1979

Bicarbonate ATP-ase in ciliary body and a theory of Diamox effect on aqueous humor formation.

Bicarbonate was found to stimulate ATP breakdown by rabbit or cat ciliary body-iris homogenates. Maximum HCO3- stimulation of ATPase with Tris-Hepes buffer occured at pH 8.0. Acid pH and chloride ions in the media reduced the activity of the HCO3--stimulated ATPase. The Km for ATP was 0.55 mmolar and for HCO3-, 20 mmlar. HCO3- ATPase was not inhibited by acetazolamide added to in vitro. It is postulated that ATPase represents the linkage step of energy donor mechanism and active CT secretion in acid aqueous humors (human, cat.) or HCO3- secretion in alkaline aqueous humor (rabbit, guinea pig). Inhibition of Cl- or HCO3- secretion by acetazolamide results from decreased intracellular HCO3- levels which, in turn, reduces the stimulation of the HCO3- ATPase.

Acetazolamide↗
PubMed1979

Rieger's syndrome with pericentric inversion of chromosome 6.

Pericentric inversion of chromosome 6 (6p+q-) was found in a girl with Rieger's syndrome and in her father. The only ocular signs in the father were prominent iris mounds and Schwalbe's line. The association of chromosomal anomalies with Rieger's syndrome indicates the need for a chromosome banding test in familial or sporadic patients with the syndrome and in patients with mild anomalies of the anterior chamber angle.

Abnormalities, Multiple↗
PubMed1979

Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement.

Arteriohepatic dysplasia (Alagille's syndrome) is presumed to be one of the familial intrahepatic cholestatic syndromes, all of which present with neonatal jaundice or failure to thrive, or both. We report the findings in five patients with this syndrome, four of whom have been followed into adulthood. In addition to hepatic dysfunction, patients had abnormalities of the cardiovascular system, eyes, bones, central nervous system, kidney, endocrine system, and habitus. Analysis of these cases allows a more complete characterization of this syndrome and shows that the cholestasis improves, although the abnormalities of the hands and face become more pronounced, with age. Patients with arteriohepatic dysplasia display the variability in expression seen in many autosomal-dominant conditions. New findings in the eye and spine provide markers specific for this syndrome and serve to differentiate it from other forms of cholestatic liver disease.

Adolescent↗
PubMed1978

Aniridia, cataracts, and Wilms' tumor in monozygous twins.

We studied the first instance of aniridia-Wilms' tumor syndrome in twins who were mentally retarded. Both of them had congenital aniridia, cataracts, and glaucoma; only one subsequently developed a Wilms' tumor. A two-allele, two-step mutation is the most likely explanation of this genetically abnormal syndrome in twins. The aniridia-Wilms' tumor syndrome in twins further documents the relationship of teratogenic malformations and neoplasias.

Adolescent↗
PubMed1978

Congenital varicella cataract.

A 16-month-old boy with 1:16 and 1:8 serum titers to varicella zoster fluorescent membrane antigen had had unilateral cataract and microphthalmos since birth. The mother had suffered varicella during the fourth month of pregnancy. Cataract aspiration in the child was uncomplicated.

Antibodies, Viral↗
PubMed1977

Café-au-lait spots of the fundus in neurofibromatosis.

Mild pigmentary changes found in the fundi of two patients with neurofibromatosis, resembled café-au-lait spots homologous with skin manifestations of the disease. In one, associated retinal hamartomas were present. The café-au-lait lesions were clinically distinct from previously reported uveal melanomas and may represent a hitherto unrecognized sign of ocular neurofibromatosis.

Adult↗
PubMed1977

The eye in the partial trisomy 2q syndrome.

Mandibulofacial dysostosis, mental retardation, skeletal, genital, and ocular malformations occurred in a family with partial trisomy of the long arm of chromosome 2. Translocations of chromatin material from the long arm of chromosome 2 to the short arm of chromosome 9 was balanced in the female carriers of the pedigree but was unbalanced among the males. Ocular signs in the males included uveal coloboma, anterior chamber angle anomalies as in Ringer's syndrome, congenital glaucoma with dislocated lens, exotropia, and blepharoconjunctivitis. These findings were related to an inherited malformation syndrome.

Adult↗
PubMed1976

Lysophosphatidyl choline and cataracts in uveitis.

In aqueous humor from rabbits with uveitis or after anterior chamber paracentesis, the levels of lysophosphatidyl choline (LPC) were 10.2mug/ml and 14.7mug/ml, respectively. These LPC levels induce early cataractous changes in the rabbit lens in culture. Analysis of the fatty acid composition of LPC showed that saturated fatty acids were more predominant in secondary aqueous humor than in primary aqueous humor. In vitro, natural LPC induced more pronounced gains in sodium ions and water by the lens than similar concentrations of synthetic L-alpha-lysopalmitoyl phosphatidyl choline. In contrast to prostaglandin E, the levels of LPC in aqueous humor of rabbits with uveitis are cataractogenic. Thus, LPC or its precursors, rather than prostaglandins, are involved in the production of cataracts in uveitis.

Animals↗