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Biomedical subjects

P Milla

Publications and source records attributed to P Milla.

42 records · Page 3Linked to original sources
PubMed1988

The teenage coeliac: follow up study of 102 patients.

Over a 10 year period a total of 102 teenage patients with coeliac disease were assessed on transfer from paediatric hospitals to an adult clinic. Fifty seven patients said they were on a strict gluten free diet; 36 were semistrict, and nine admitted to eating a normal diet. Jejunal mucosal abnormalities, however, suggested that many patients on the 'strict' diet were actually consuming gluten. All patients were well with biochemical parameters within the normal range. Height percentiles were not significantly different from the normal population but patients, as a group, were significantly lighter.

Adolescent↗
PubMed1988

Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme.

Eight cases of congenital sucrase-isomaltase deficiency were studied at the subcellular and protein level with monoclonal antibodies against sucrase-isomaltase. At least three phenotypes were revealed: one in which sucrase-isomaltase protein accumulated intracellularly probably in the endoplasmic reticulum, as a membrane-associated high-mannose precursor, one in which the intracellular transport of the enzyme was apparently blocked in the Golgi apparatus, and one in which catalytically altered enzyme was transported to the cell surface. All patients expressed electrophoretically normal or near normal high-mannose sucrase-isomaltase. The results suggest that different, probably small, mutations in the sucrase-isomaltase gene lead to the synthesis of transport-incompetent or functionally altered enzyme which results in congenital sucrose intolerance.

Adolescent↗
PubMed1976

Multicomponent gas chromatographic analysis of urinary steroids excreted by an infant with a defect in aldosterone biosynthesis.

The urinary steroids excreted by an infant with a salt-wasting syndrome due to a suspected defect in the 18-oxidation of corticosterone have been analysed by gas chromatography-mass spectrometry. The excretion of tetrahydroaldosterone was low (3.5 mug/24 h) whilst the excretion of 3alpha,11beta,21-trihydroxy-5alpha-pregnan-20-one (allo-tetrahydrocorticosterone) and other corticosterone metabolites was high (total about 2 mg/24 h). The excretion of cortisol metabolites was apparently normal for age (total about 2 mg/24 h) but 3alpha,11beta,17alpha,21-tetrahydroxy-5alpha-pregnan-20-one (allo-tetrahydrocortisol) rather than tetrahydrocortisone, was the major component of the group. The excretion of an 18-hydroxycorticosterone metabolite 3alpha,18,21-trihydroxy-5beta-pregnane-11,20-dione (18-hydroxytetrahydroCompound A) was higher than normal for infants of this age (between 50 and 200 mug/24 h), suggesting that the defect was in 18-hydroxysteroid dehydrogenase rather than 1,-hydroxylase. In addition, 18-hydroxytetrahydrocorticosterone, another metabolite of 18-hydroxycorticosterone was tentatively identified and it was found that the rate of excretion of this compound was of similar magnitude to 18-hydroxytetrahydroCompound A. The salt balance of the infant has been sucessfully controlled by salt administration (77 mEq./24 h) and treatment with Fludrocortisone (0.5 mg/day).

18-Hydroxycorticosterone↗
PubMedDate not supplied

Solubilization and identification of essential functional groups of Candida albicans oxidosqualene cyclase.

The enzyme properties and location of essential functional groups of solubilized oxidosqualene cyclase of Candida albicans have been studied. We show that the C. albicans enzyme is much more heat-labile compared with Saccharomyces cerevisiae and rat liver cyclases, requires a histidyl residue for enzyme activity, contains an essential thiol residue either close to or in the active site and exhibits a carbocationic mechanism for catalysis, as the enzyme-bound substrate protects the enzyme from inactivation by a site-directed inactivator.

Animals↗