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Biomedical subjects

S Kelly

Publications and source records attributed to S Kelly.

At least 235 records · Page 13Linked to original sources
PubMed1978

Glutathione peroxidase in dried blood spots.

A new procedure utilizing dried blood spots was developed for detecting glutathione peroxidase deficiency. Samples from a known patient with a partial defect and from rats with an induced deficiency were distinguished from respective control groups by their longer defluorescence endpoints. Samples from 100 patients with anemia and 2 phenyl-ketonuric infants on low-protein diets contained glutathione peroxidase activity similar to that in 82 controls, when screened for the enzyme defect by the new procedure.

Adult↗
PubMed1978

Cystinuria genotypes predicted from excretion patterns.

Genotypes of 17 patients with cystinuria were predicted from data based on excretion rates of the families' obligate carriers. The methodology differed from that used by other investigators as it did not employ intestinal biopsy studies or loading dose measurements. The Type I form was more common than either Type II or Type III and frequently occurred in combination to give compound heterozygous genotypes with the Type III form.

Adolescent↗
PubMed1978

Rapid identification of San Filippo disease (MPS III).

Humbel's thin-layer chromatography of urine was a rapid, reliable means of identifying type of mucopolysaccharide storage disease in 30 patients. Over half had Hurler-Scheie or Hunter disease (MPS I-V or II); eight had San Filippo disease, of which four expressed the Type B form.

Chromatography, Thin Layer↗
PubMed1977

Influence of pericardial fluid on cardiogenic gas mixing in the lung.

Respirat. Environ. Exercise Physiol. 42(1): 5-12, 1977. -In eight open-chested dogs we measured the end-inspiratory N2 concentration within 12 airways, 2.5-8.3 mm in diameter during constant flow inflations with 0.5 liter of O2 before and after the introduction of saline into the pericardial sac. The critical flow rate necessary to achieve a given end-inspiratory FN2, as well as the maximal amplitude of cardiogenic N2 fluctuations, became smaller in the presence of pericardial fluid (PF). In the presence of only 25-50 ml of saline in the pericardium the effective diffusion coefficient, incorporating cardiogenic gas mixing, decreased by as much as 50-66%, respectively. Studies in two dogs with the chest intact showed that PF caused a qualitatively similar impairment of gas mixing during breath holding. Multiple-breath N2 washouts did not reflect the decreases in gas mixing produced by PF. We believe that PF decreases cardiogenic gas mixing mainly by protecting the lung from the rotational thrust of the heart during myocardial contraction.

Animals↗
PubMed1976

A microfluorometric assay of leukocyte alpha-1,4-glucosidase.

We describe an improved method for detecting deficiency of the acid hydrolase, alpha-1,4-glucosidase in leukocytes, the enzyme defect in glycogen storage disease Type II (Pompe disease). The procedure requires smaller volumes of blood and less time than previous methods. The assay involves the separation of leukocytes by Peter's method for beta-glucosidase and a modification of Salafsky and Nadler's fluorometric method for alpha-glucosidase.

Adult↗