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Biomedical subjects

C McCulloch

Publications and source records attributed to C McCulloch.

At least 55 records · Page 3Linked to original sources
PubMed1975

Gyrate atrophy of the choroid and retina with hyperornithinemia.

A case of gyrate atrophy of the choroid and retina and hyperornithinemia in a 28-year-old man was subjected to extensive clinical and biochemical investigation. The familial occurrence of the ocular disease and of abnormality of amino acids was unique to this patient, being absent in parents and siblings. He presented with progressive visual loss, and had cataracts and large areas of peripheral lacumar atrophy. Clinically there was no other abnormality. However, he was hyperuricemic and had an abnormal electroencephalogram. Despite otherwise normal biochemical indices of hepatic, renal, and muscle function, selective catheterization of an artery, the hepatic vein, the renal vein, and a deep forearm vein showed all of these circulatory beds to be producing ornithine according to arteriovenous difference measurements. Cerebrospinal fluid and urine contained increased amounts of ornithine. Though electromyography was normal a muscle biopsy specimen was abnormal. Clinical tests including arginine loading, glucose tolerance testing, and other measurements of blood variables provided inferences as to the metabolic locus of the abnormality. The syndrome is a systemic multiorgan disorder in which the choriod and retina would appear to be target organs and the hyperornithinemia to be of as yet undetermined cause and pathogenic significance.

Adult↗
PubMed1975

Anterior subcapsular cataract. An electron microscopic study.

Electron microscopic findings from a case of anterior subcapsular cataract are presented. It is suggested that the epithelial cells increase in activity, form fibrillae and multiple layers of basement membrane, and these make up the anterior plaque. The same activity, to a lesser degree, is present under the posterior capsule. This abnormal function of forming fibrillae and basement membrane along with increased ribosomal activity may be called pseudometaplasia.

Basement Membrane↗
PubMed1975

Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations.

A case of gyrate atrophy of the choroid and retina associated with hyperornithinemia has been subjected to extensive clinical and biochemical investigation. The familial occurrence of the ocular disease and of abnormality of amino acid was unique to this 28-year-old male, being absent in parents and siblings. He presented with progressive visual loss, and was found to have cataracts and large areas of peripheral lacunar atrophy. Clinically there was no other abnormality. However, he was hyperuricemic and has an abnormal EEG. Despite otherwise normal biochemical indices of hepatic, renal, and muscle function; selective catheterization of an artery, the hepatic vein, the renal vein, and a deep forearm vein showed all of these circulatory beds to be producing ornithine according to arteriovenous difference measurements. Cerebrospinal fluid and urine contained increased amounts of ornithine. Though electromyography was normal, the muscle biopsy was abnormal. Clinical tests including arginine loading, glucose tolerance testing, and other measurements of blood variables provided inferences as to the metabolic locus of the abnormality. The syndrome is a systemic multiorgan disorder in which the choroid and retina would appear to be target organs and the hyperornithinemia to be of, as yet, undetermined cause and pathogenic significance.

Adult↗
PubMed1975

Lecithin cholesterol acyl transferase deficiency. Light and electron microscopic finding from two corneas.

Two brothers with LCAT deficiency are reported. Corneal specimens were studied from both patients by electron and light microscopy. The electron microscopy revealed numerous vacuoles in both Bowman's layer and anterior stroma with some having electron dense material within the vacuoles. Conventional strains including frozen sections for lipid with light microscopy failed to reveal these vacuoles or any pathology. The composition of the contents of the vacuoles remains unsolved.

Acyltransferases↗