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Biomedical subjects

A Rinaldi

Publications and source records attributed to A Rinaldi.

At least 127 records · Page 7Linked to original sources
PubMed1981

Oxidation of meso-diaminosuccinic acid, a possible natural substrate for D-aspartate oxidase.

meso-Diaminosuccinic acid, a natural antagonist of aspartic acid, is a good substrate for beef kidney D-aspartate oxidase. The oxygen consumption and the ammonia production are in good agreement with the stoichiometry of a typical oxidative deamination. The deamination involves only one of the two amino groups of diaminosuccinate, and is followed by decarboxylation of the first reaction product, 2-amino-3-oxosuccinic acid. By condensation of the compounds thus originating from this latter, pyrazine 2,5-dicarboxylic acid and pyrazine 2,6-dicarboxylic acid are formed. DL-Diaminosuccinic acid is not oxidized by D-aspartate oxidase, nor does it inhibit the enzyme activity.

Amino Acid Oxidoreductases↗
PubMed1981

Genetic variation in the quantitative levels of an NADP (H)-binding protein (FX) in human erythrocytes.

FX is a red cell NADP(H)-binding protein that has been well defined biochemically and immunologically but whose function is still unknown. Preliminary data indicated that the levels of this protein are significantly increased in hemizygotes, heterozygotes, and homozygotes for the G6PD Mediterranean mutant, thus raising the question of whether or not the individual variation in FX levels is more or less directly influenced by X-linked genes. The present study, based on a large series of population and family data collected in Sardinia, confirms unequivocally the above mentioned interaction, but shows at the same time that the variances in FX levels "between sibships" are 2-3 times larger than those "within sibships," when the analysis is done separately for the G6PD-normal or the G6PD-deficient sibs. From the comparison of the interclass and intraclass correlation coefficients, it appears that about 60% of the total variation of FX is of genetic origin. Moreover, the FX levels of children, analyzed in a pairwise manner, were found to be more positively correlated with those of their fathers (r = 0.39) than with those of their maternal grandfathers (0.20). This latter finding obviously favors the conclusion that "autosomal" rather than "X-linked" genes are involved in the determination of the FX levels.

Adult↗
PubMed1980

[Behavior of plasma triglycerides and cholesterol in diabetic patients].

34 diabetic patients (24 females and 10 males) were studied and hypertriglyceridemia was found only in females. Obesity seems to be the most important factor determining hypertriglyceridemia and hypercholesterolemia. No correlation was found between glycosylated haemoglobin and triglycerides or cholesterol levels. Only a little correlation was found between fasting plasma glucose and triglycerides levels.

Adult↗
PubMed1980

[Erythrocytic 2-3-diphosphoglycerate in diabetes mellitus].

Red cell 2-3 DPG concentration in diabetes mellitus has been found to be equal to normal. Red cell 2-3 DPG seems to be related to Hb concentration. There is an appreciable scatter of 2-3 DPG among healthy males and healthy females. Female diabetics have a red cell 2-3 DPG like male diabetics despite a significative lower Hb concentration. However, the conflicting data reported on the amount of 2-3 DPG in diabetic red cells could be referred to an unequal arrangement of males and females in control subjects and diabetics.

Adult↗
PubMed1980

Hereditary 3;6 translocation : three cases of multiple malformations with partial trisomy 6p21 leads to pter.

The authors report on a family with a t(3;6). All four members of a sibship were carriers of the balanced translocation and two have had children with multiple malformations. The proband, six months old, had the karyotype 46,XY, t(3;6) (p26;p21) der pat. His clinical features were typical of the trisomy 6p syndrome. HLA typing data failed demonstrate both paternal haplotypes in the propositus.

Abnormalities, Multiple↗
PubMed1979

X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency.

A Sardinian kindred segregating for X-linked anhidrotic ectodermal dysplasia (AED), glucose-6-phosphate dehydrogenase (G6PD) deficiency of Mediterranean type, and Xga blood antigen provides evidence against a measurable linkage between the loci for AED and G6PD. Moreover, from the segregation of the combined phenotypes in four scorable sons from two triple heterozygotes with phase known, it seems highly probable that the AED locus is nearer to the centromere than is the G6PD locus.

Blood Group Antigens↗
PubMed1979

Additional pedigree supporting the frequent origin of XXYY from consecutive meiotic non-disjunction in paternal gametogenesis.

A 48,XXYY Sardinian patient, born to a 46,XX mother heterozygous for the Gd Mediterranean mutant, and to a 46,XY father hemizygous for the same mutant, was found to have a mosaic distribution of G6PD(+) and G6PD(-) peripheral red blood cells. The most likely interpretation of this finding is that the propositus is an additional example of an XXYY zygote derived from a consecutive meiotic non-disjunction during paternal gametogenesis.

Adult↗
PubMed1978

[Anti-islet cell antibodies in insulin-dependent diabetics. Preliminary study].

Anti-islet cell cytoplasm antibodies (ICA) were noted in the serum of insulin-dependent diabetics, but not in subjects with insulin-independent forms. These antibodies seem to represent an immunological marker for two forms of the disease, one in which ICA appears shortly after onset and later disappears, and another ("autoimmune") form in which ICA is detectable for long periods and persists along with other signs of alteration of the immune system.

Adult↗
PubMed1978

Triplo-X constitution of mother explains apparent occurrence of two recombinants in sibship segregating at two closely X-linked loci (G6PD and deutan).

Two male sibs believed to be examples of meiotic recombinants between the closely linked loci for G6PD deficiency of Mediterranean type and severe deutan color blindness proved to be simple segregants of a triplo-X mother of genotype d--GdMediterranean/d+GdMediterranean/d+GdB. This finding suggests that in Sardinia the linkage between the two loci under consideration may be tighter than previously assumed.

Color Vision Defects↗
PubMed1978

Oxidative deamination of carboxyethyl-cysteine and carboxymethyl-homocysteine.

Snake venom L-aminoacid oxidase, while inactive on 4C and 5C dicarboxylic alpha-amino acids, may oxidize their 6C and 7C homologues alpha-aminoadipic and alpha-aminopimelic acid. It has been demonstrated that the enzyme also oxidizes S-carboxyethyl-L-cysteine and S-carboxymethyl-L-homocysteine, two analogues of alpha-aminopimelic acid with the gamma or delta methylene groups substituted by a sulfur atom. As oxidation products the corresponding ketoacids were obtained. Thus substrate specificity of L-aminoacid oxidase for dicarboxylic alpha-aminoacids seems highly dependent on the carbon chain length, whereas substitution of a methylene group by a sulfur atom seems to have almost no effect. On the other hand, D-aspartate oxidase from beef kidney (active on 4C to 6C dicarboxylic alpha-aminoacids) cannot oxidize the 7C alpha-aminopimelic acid but is active on the S-carboxyethyl-D-cysteine analogue. The other aminopimelic analogue, S-carboxymethyl-D-homocysteine, is a very poor substrate. Thus the substrate specificity of D-aspartate oxidase, highly dependent on chain length, is also influenced by chain conformation. Furthermore, oxidation of either compound under study, L-aminoacid oxidase and D-aspartate oxidase, leaves unaffected the thioether bond.

Amino Acid Oxidoreductases↗
PubMed1977

Linkage disequilibrium for two X-linked genes in Sardinia and its bearing on the statistical mapping of the human X chromosome.

The distribution of four X-linked mutants (G6PD, Deutan, Protan and Xg) among lowland and once highly malarial populations of Sardinia discloses a clear-cut example of linkage disequiligrium between two of them (G6PD and Protan). In the same populations the distribution of G6PD-deficiency versus colorblindness of the Deutan type and the Xg blood-group is not significantly different from that expected at equilibrium. These data suggest indirectly that the loci for G6PD and Protan may be nearer to one another than those for G6PD and Deutan.

Blood Group Antigens↗