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Biomedical subjects

A N Gale

Publications and source records attributed to A N Gale.

7 recordsLinked to original sources
PubMed1991

Neurology.

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Dementia↗
PubMed1978

Neuronal ceroid-lipofuscinosis. Studies of granulocyte enzyme activities.

Neuronal ceroid-lipofuscinosis is characterized by pigmentary degeneration of the retina, psychomotor degeneration, epilepsy and intracellular deposition of ceroidlipofuscin. Recent reports have suggested that deficiency of peroxidase is the basic genetic defect. However, deficiency of myeloperoxidase could be demonstrated in some but not all patients; this deficiency was noted only when p-phenylenediamine (PPD) was used as hydrogen donor and could not be confirmed with guaiacol. We found that horseradish peroxidase (HR-P) oxidized PPD in the absence of added H2O2. The oxidative product of PPD showed the same absorption spectrum as the peroxidative product. The oxidation of PPD by HR-P was not inhibited by catalase or superoxide dismutase. In addition, catalase oxidized PPD in the presence of H2O2. Soluble and granular fractions obtained from human polymorphonuclear leukocytes (PMN) also oxidized PPD in the absence of H2O2. Addition of H2O2 inhibited the oxidation of PPD in some cell fractions. This inhibition could be partially eliminated by dialysis of the cell fractions. Thus, PPD is not a suitable hydrogen donor for the study of peroxidase. This may explain the variable results obtained by the previous investigators. In contrast, guaiacol did not show these undesirable characteristics. The PMN peroxidase (measured with guaiacol), catalase, beta-glucuronidase, acid and alkaline phosphatases were studied in individuals from three families with juvenile neuronal ceroid-lipofuscinosis. Family 1: an affected boy and healthy parents; all showed normal enzyme activities in both soluble and granular fractions. Family 2: two affected sisters, one healthy sib and mother, and Family 3: one affected boy; all showed reduced peroxidase activities in the granular fractions. Other enzymes were normal. The role of peroxidase deficiency in the pathogenesis of neuronal ceroid-lipofuscinosis is not clear. The basic defect of this syndrome remains uncertain.

Acid Phosphatase↗
PubMed1977

Familial congenital bicuspid aortic valve: secondary calcific aortic stenosis and aortic aneurysm.

A patient with an aneurysm of the ascending aorta and calcific stenosis of a congenital bicuspid aortic valve, whose brother also had a stenotic congenital bicuspid aortic valve, is described. Predominant aortic stenosis at cardiac catheterization and the presence of an aneurysm distal to and not including the aortic valvular ring made the initial diagnosis of Marfan's syndrome unlikely. Cystic medial necrosis present in the aneurysmal wall probably arose as a consequence of poststenotic dilation. Adequate noninvasive evaluation of the ascending aorta requires echocardiographic studies, as well as a chest x-ray film.

Adult↗