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Biomedical subjects

R Casey

Publications and source records attributed to R Casey.

At least 109 records · Page 6Linked to original sources

Liver abnormalities in three patients with fetal alcohol syndrome.

Liver abnormalities were found in three patients with fetal alcohol syndrome. The histological appearance was different in each case. Thick, sclerotic central veins were seen in two of the three cases. One patient had features typical of congenital hepatic fibrosis and cystic disease of the kidneys. Findings in these patients indicate that some cases of congenital hepatic fibrosis might be caused by high maternal alcohol ingestion in pregnancy.

Adolescent↗

Immunoaffinity chromatography as a means of purifying legumin from Pisum (pea) seeds.

The potential of immunoaffinity chromatography as a means of purifying legumin from a wide range of Pisum (pea) types was assessed. The method required small amounts of highly purified legumin from a single Pisum type, and this was obtained by salting out with (NH4)2SO4 followed by zonal isoelectric precipitation, ion-exchange chromatography on DEAE-cellulose and sucrose-density-gradient centrifugation. Some physiocochemical properties of purified legumin were determined, a number of which (Strokes radius, subunit molecular weights, subunit N-terminal residues and subunit molar ratios) have not previously been reported for Pisum legumin. Examination of Pisum legumin by two-dimensional gel isoelectric focusing/electrophoresis indicated the existence of extensive subunit heterogeneity, and polyacrylamide-gel electrophoresis in the presence of sodium dodecyl sulphate showed apparent variation in the nature of this heterogeneity from one Pisum variety to another. Despite this variation, immunoaffinity chromatography on immobilized anti-legumin (which was prepared by affinity chromatography on the immubolized purified legumin from the single Pisum type) was shown to be a generally applicable method for the purification of undegraded legumin from a range of pisum types, including two primate lines.

Amino Acids↗

Difficulties and pitfalls in the interpretation of screening tests for the detection of inborn errors of metabolism.

A review of factors which may be responsible for false positive and false negative results in a screening program for the detection of inborn errors of metabolism is presented. Administration of medication, dietary therapy, chemical treatment of specimens, delay in analysis, hypersensitivity of procedures utilized, interfering metabolites and inadequate metabolic development or enzymatic maturation in the patient may all produce results resembling an actual inborn error of metabolism. Inadequate nutritional intake prior to procurement of specimen and loss of material during analytical procedures may produce false negative results. As well, certain less severe variants of inborn errors may present in an unusual manner or may only present during periods of stress to the patient. These factors are discussed in relation to the performance of a metabolic screening program. It is suggested that these progrms should be performed by specialized, central laboratories experienced in the complexities of detection of inborn errors of metabolism.

Anticonvulsants↗

Tryptic hydrolysis at asparagine residues in globin chains.

Commercially available Tos-PheCH2Cl-treated or untreated bovine trypsin (EC 3.4.21.4) is shown to catalyse minor tryptic hydrolysis at the carboxyl side of asparagine residues in globin chains. This activity is not removed by the purification of enzyme, using CM-cellulose chromatography and subsequent affinity chromatography on trypsin inhibitor columns, neither is it inhibited by Tos-PheCH2Cl treatment of the CM-cellulose purified enzyme. It is suggested that the ability to hydrolyse globin chains at asparagine residues may represent an inherent feature of the trypsin molecule.

Amino Acid Sequence↗

Residues 124 and 125 (H2 and H3) of the human haemoglobin delta-chain.

Residues 124 and 125 of the beta-chain of human haemoglobin are prolyl-prolyl. In the delta-chain, one of these positions is occupied by a glutaminyl, and there has been uncertainty as to which of the two residues is the prolyl and which the glutaminyl. The sequence has now been established to be delta124 Pro - 125 Gln.

Amino Acid Sequence↗

Specific cyanylation and cleavage at cysteine-104 human hemoglobin alpha-chain. A novel approach to the problem of the alpha-chain tryptic core in the study of haemoglobin variants by "fingerprinting" methods.

1. A new approach to the analysis, by "fingerprinting", of the tryptic core region of human haemoglobin alpha-chain is described. 2. The alpha-chain is cyanylated at its single cysteine residue (alpha104) and then split, by exposure to mild alkali, at the N-peptide bond of the resulting beta-thiocyanoalanine residue. 3. The two cleavage fragments, alpha1-103 and alpha104-141, are separated by gel filtration, and the fragment alpha104-141, which contains all the residues of the alpha-chain tryptic core, is digested with pepsin. 4. Preparative "fingerprints" of these peptic peptides yield eight major peptides, which provide complete sequence information for the whole region alpha104-141. 5. The utility of the method is demonstrated by repeating the determination of the substitution in haemoglobin Hopkins-2, a known alpha-chain core variant in which histidine-alpha112 (G19) is replaced by an aspartic acid residue.

Alanine↗

Erythraemia due to haemoglobin San Diego.

A 63-year-old man with erythraemia was found to have a high affinity haemoglobin which was subsequently identified as Hb San Diego beta 109 (G11) Val leads to Met, recently described in a Filipino family (Nute et al, 1974). The oxygen affinity of the haemolysates was increased approximately two-fold at pH values between 6.04 and 7.90. The n value was nearly normal (2.5-2.9) in the upper range of saturation (70-95% oxygenation) but was somewhat diminished (1.9-2.1) below this range. In vitro biosynthesis of globin by reticulocytes showed that there was balanced synthesis of alpha and beta chains (alpha:beta ratio = 1).

California↗

Haemoglobin A-2-NYU in a London population.

Electrophoresis of haemolysates from a population in London resulted in the detection of a variant of haemoglobin-A-2. Purification and characterisation of the variant globin revealed that this was a further example of haemoglobin A-2-NYU.

Female↗