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Biomedical subjects

I Barberi

Publications and source records attributed to I Barberi.

47 records · Page 3Linked to original sources
PubMedDate not supplied

The fragile X in Sicily: an epidemiological survey.

We have studied a group of 349 institutionalized propositi with mental retardation, and found 12 fra(X)-positive cases among 155 males (7.7%) and 8 fra(X)-positive cases among 194 females (4.1%). The males had characteristic manifestations of the Martin-Bell syndrome. Another 7 males, who were initially considered "borderline", having expression of fra(X) less than 4% and a non-characteristic phenotype, were eventually considered negative. Among 5,624 patients (2,764 males and 2,860 females) that were admitted to the Pediatric Department of the University of Catania during the period July 1986 - June 1987, 210 (120 males and 90 females) had mental retardation. Of these, 75 were analyzed for the presence of fra(X) (q27.3); 5 males (0.18% of all males) and 2 females (0.07% of all females) were fra(X)-positive. The males had the Martin Bell syndrome phenotype. The presence of fra(X) (q27) was confirmed in another 4 male propositi that were referred to our outpatient services with a clinical diagnosis of Martin-Bell syndrome.

Adolescent↗
PubMedDate not supplied

Minor changes in the sodium dodecyl sulphate-gel electrophoresis periodic acid-Schiff-staining profiles of erythrocyte membranes in beta-thalassemia major.

The sialic acid content of the human erythrocyte membrane is higher in homozygous beta-thalassemia than in heterozygous and healthy donors. Analysis of the difference by means of polyacrylamide gel electrophoresis in 1% sodium dodecyl sulphate and PAS staining failed to reveal significant variations in mobility and relative staining intensity of the main glycoprotein components, PAS-1, PAS-2 and PAS-3. The minor, although highly significant, changes which were recognized in the PAS pattern of beta-thalassemia patients compared with normal controls concerned the PAS-4 region and a shoulder trailing band PAS-2, which both increased in staining intensity relatively to the main sialocomponent PAS-1. Moreover, the shoulder was found to be more prominent in profiles from erythrocytes of blood group 0, in both normal and thalassemic subjects. The experimental data are discussed in the light of the presence of blood group ABH specific macroglycolipids in human erythrocytes (Dejter-Juszynski et al. 1978).

Electrophoresis, Polyacrylamide Gel↗
PubMedDate not supplied

Altered sialic acid contents of red blood cell membrane preparations in homozygous beta-thalassemia.

In the present work the sialic acid content of the red blood cell ghost membranes was measured in blood specimens obtained from 18 patients with beta-thalassemia major and 10 controls. The sialic acid-protein weight ratio was reduced in comparison with normal mean value only in four patients who had undergone splenectomy several years ago. The remaining 14 unsplenectomized patients showed a sialic acid/protein ratio that was 50% higher than normal (P less than 0.001). The titratable sulphydryl groups were also measured in red blood cell membrane preparations. SH groups content was reduced in patients with beta-thalassemia major, and a dramatic decrease (-60%) was observed in patients after splenectomy.

Adolescent↗
PubMedDate not supplied

Cathechol-O-methyl transferase activity in the individual human platelet populations.

COMT activity is present in many animal tissues, but there is no evidence on the presence or the functional role of COMT activity in platelets. The present work reports the results obtained on COMT activity in the individual platelet populations separated by a discontinuous sucrose density gradient. In the young platelet populations the activity is remarkable higher than in the old and light populations. Low values of COMT activity in the old platelets may reflect platelet senescence.

Blood Platelets↗
PubMedDate not supplied

Methionine activating enzyme in various human platelet populations.

Human platelets have been separated into four populations by a discontinuous sucrose gradient. MAE activity has been determined in the various platelet populations and significant differences were obtained with respect to platelet size, the large-heavy platelets showing a higher enzymatic activity than the small-light ones. These data suggest that higher MAE activity in the younger and large-heavy platelets may be responsible for a much higher biochemical and functional efficiency.

Blood Platelets↗