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Biomedical subjects

E S Brown

Publications and source records attributed to E S Brown.

18 recordsLinked to original sources
PubMed1990

The pathogenesis of retinopathy of prematurity as it relates to surgical treatment.

Our current surgical treatment for threshold retinopathy of prematurity (ROP) is based upon three concepts which emerged from morphologic and biochemical study of 250 pairs of whole eye donations obtained over a ten year period. 1) Spindle cells normally migrate and canalize to form inner retinal vessels, but when stressed, spindle cells secrete angiogenic factors. The clinical implication is that transretinal cryotherapy to the avascular retina is efficacious because it obliterates spindle cells. The number and timing of cryosessions are determined by the migration and kinetics of spindle cells. 2) Myofibroblasts originate from the shunt, are the major cellular component of extraretinal fibrovascular proliferation (EFP), and contract to produce retinal distortion and detachment. The clinical implication is that a second transretinal cryotherapy session should obliterate the shunt and the EFP, and should eliminate the source of retinal traction. 3) Anterior ocular growth occurs exponentially during the period when ROP develops and is treated. The clinical implication is that a prophylactic scleral buckle supports the fixed surface area of the developing retina while the choroid and sclera enlarge anteriorly. Retinal distortion produces misaligned photoreceptors, and retinal detachment results in rapid retinal death.

Animals↗
PubMed1986

Paternal hyperphenylalaninemia.

In an article published in 1981 that reported on semen studies in four men with phenylketonuria (PKU), it was concluded that semen volumes were significantly reduced. However, the index case should not have been included in the statistical analyses. In the other three cases, the men with PKU had smaller semen volumes than did the four control medical students. The significance of these data depends upon the subjects' reliability in accurately reporting abstinence from ejaculation during the preceding four days. Significant differences were not found in sperm count per milliliter, total sperm count, motility, viability, and abnormal forms of sperm. The 1981 article has aroused concerns about both the ability of men with PKU to father offspring and the outcome for children who are conceived. In the present article, the author reports on one case of paternal benign hyperphenylalaninemia from her clinic and eight cases of presumably classical PKU that were previously reported. The nine cases include a total offspring of 33. Of these 33, eight had PKU, two had milder to moderate hyperphenylalaninemia, and one undiagnosed retarded child died at the age of 8 years. The 22 other offspring seem to be normal or similar to their non-PKU mothers. Three of the fathers had no hyperphenylalaninemic offspring. Two PKU offspring were from a mating of two PKU parents. Hyperphenylalaninemic men can obviously father children, but abnormalities other than hyperphenylalaninemia have not been seen.

Adult↗
PubMed1985

An X-linked recessive basal ganglia disorder with mental retardation.

We report a previously apparently undescribed, X-linked recessive basal ganglia disorder segregating in three generations of one family. The affected patients were variably mentally retarded, although some showed strengths in oral reading and memory. Most affected males had frontal bossing and increased head circumference with large calvaria in relation to facial bones. Their height and weight did not differ from that of other relatives; testicular size was average, chromosomes were normal, and results of laboratory investigations for known metabolic disorders were normal. All patients examined had neurological impairment, including persistent frontal lobe reflexes, cogwheel rigidity, postural changes, and Parkinsonian-type tremors. Some had strabismus; several had seizures. Although carriers of the condition were not consistently abnormal, two had suggestive signs. No definitive indication of the disorder was documented in infancy in any affected male, and it is possible that this could be due to lack of careful prospective clinical evaluation rather than to the absence of symptoms in early life.

Basal Ganglia Diseases↗
PubMed1985

Reinstitution of diet therapy in PKU patients from twenty-two US clinics.

In a nationwide survey we found 72 PKU (phenylketonuria) patients who had terminated diet but later returned to diet. Sixty-one patients resumed diet due to clinical problems. Age at initial diet discontinuation ranged from three to 20 years. The most prevalent problems reported were poor school performance, and mood and/or behavior changes. Following diet reinstitution, only positive changes were noted for 42 patients, no changes for 19 patients, and 11 had one or more negative changes. Improvements and blood phenylalanine levels were not significantly correlated, but only 11 patients maintained levels less than 10 mg/dl. The number of improvements was significantly correlated with length of time on diet (p less than 0.001). After a median of 10 months on diet, 22 patients had again discontinued due to poor diet control, lack of motivation, poor formula tolerance, lack of apparent benefits and/or changes for the worse. Median time on diet for the 50 second-time continuers was two years nine months.

Adolescent↗
PubMed1977

Sibship with histidinemia and an unrelated encephalopathy. Clinical and biochemical studies.

Histidinemia was found in 3 of 4 siblings in one family, while a fatal encephalopathy with mental retardation was present in two of them and in the fourth child who did not have histidinemia. Biochemical studies of the histidinemic subjects showed elevated histidine levels in urine, CSF, and brain, while in a few urine samples histidine related imidazole compounds were found. Plasma levels of other amino acids were positively correlated with plasma histidine levels. Obesity and heart abnormalities appeared to be associated with the encephalopathy, which is probably of a new type. The histidinemia appears to be unrelated to the mental retardation or the encephalopathy in this family.

Amino Acid Metabolism, Inborn Errors↗
PubMed1976

Mental development of phenylketonuric children on or off diet after the age of six.

Eleven children with phenylketonuria (PKU) taken off diet after the age of six showed significant decreases in rate of mental development compared with 26 control children children of comparable IQ and with 17 PKU children of comparable IQ who remained on the diet. Changes in rate of mental development were significantly and inversely correlated with plasma phenylalanine levels in treated PKU.

Adolescent↗
PubMed1975

Gas-liquid chromatography of phenylalanine and its metabolites in serum and urine of various hyperphenylalaninemic subjects, their relatives, and controls.

Phenylalanine and its metabolites were determined in serum and urine of phenylketonuric subjects and in subjects with milder hyperphenylalaninemia in whom blood phenylalanine concentrations were usually less than 200 mg/liter. Metabolite concentrations were related to serum phenylalanine, and in hyperphenylalaninemic subjects were between those for treated and untreated phenylketonuric subjects. Phenyllactic and phenylpyruvic acids were excreted by all of the mild hyperphenylalaninemic subjects except for the youngest (one-year-old twins) and the only subject with a serum phenylalanine of less than 100 mg/liter. Serum and urinary metabolites of heterozygotes of both conditions were similar before and after a phenylalanine load. The similar pattern of metabolites in phenylketonuric and mild hyperphenylalaninemic subjects reinforces the belief that the latter have some phenylalanine hydroxylase activity, and that this is the essential difference between the two groups.

Adolescent↗