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Biomedical subjects

S Rufini

Publications and source records attributed to S Rufini.

At least 55 records · Page 3Linked to original sources
PubMed1976

Treatment of acrodermatitis enteropathica with zinc sulphate. Rerport of 3 cases.

The therapeutic effect of orally administered zinc in 3 patients affected with Acrodermatitis enteropathica is reported. Single daily doses of zinc resulted in rapid improvement of the general condition of these patients and in clinical remission within a week. Serum, urine and hair zinc levels as well as alkaline phosphatase, which were very low before treatment, returned to normal after therapy. This brief report confirms the efficacy of oral zinc in the treatment of Acrodermatitis enteropathica.

Acrodermatitis↗
PubMedDate not supplied

Membrane-perturbing activity of Viperidae myotoxins: an electrostatic surface potential approach to a puzzling problem.

Phospholipase-like myotoxins are a class of proteins present in Viperidae venom. Despite the high level of amino acid and structural homology with soluble phospholipases A(2), myotoxins are devoid of enzymatic activity and share cytolytic activity by means of a totally unknown mechanism involving the lipid bilayer perturbation. The distribution of electrostatic surface potentials of four myotoxins and seven phospholipases A(2) has been compared. The charge distribution is similar in all active non-cytolytic phospholipases with a strongly positive side corresponding to the domain interacting with the micellar substrate and with the opposite side negatively charged. In contrast, all myotoxins examined are positively charged on both sides. Myotoxin III, the only known example of a myotoxin sharing enzymatic activity, displays the same electrostatic surface potential as other related toxins. Using liposomes made with non-hydrolysable phospholipids, we demonstrate that myotoxin III perturbs the lipid bilayer like other myotoxins. Based on these results, a molecular model for myotoxin-membrane perturbing activity is proposed. In this model, potential double-face binding of myotoxic phospholipases A(2) to lipid surfaces could trigger a lipid bilayer destabilization and could generate a stable fusion pore, probably because of the presence of hydrophobic moieties that flank the cationic sites.

Cell Membrane Permeability↗
PubMedDate not supplied

[Nocturnal changes in osteocalcin in children with constitutional growth retardation].

Growth Hormone (GH) and serum Bone GLA-Protein (BGP or Osteocalcin), a sensitive and specific marker of bone turnover, were measured in 5 children with growth retardation, during 12 h period from 8 p.m. every 30'. A nocturnal periodicity in Osteocalcin was found: BGP rose slightly during sleep in the patients studied, maximum concentration being reached between 3 and 5 a.m. There were no consistent correlations between Osteocalcin concentration and circulating levels of GH in the subjects tested. BGP determination may be of interest in the evaluation of children with short stature but standardized analytical conditions remain to be determined.

Child↗
PubMedDate not supplied

[Possible correlations of Berger's disease and Schonlein-Henoch purpura].

A case of IgA nephropathy is described. The patient had only an attack of Henoch-Schonlein purpura without renal involvement when she was 7 years old. After 6 years of normal urinalysis she developed repeated bouts of gross hematuria and proteinuria. In renal biopsy typical features of Berger's disease were found. This particular case permits to debate whether the two diseases suffered by our patient were related or quite different.

Adolescent↗
PubMedDate not supplied

[Determination of HbA2 by a microchromatographic method. Reliability and simplification of the use of prepared columns].

A modified procedure for hemoglobin A2 determination by microchromatography was developed simplifying an easily commercially available column kit method. Blood samples were analyzed simultaneously by means of DE-52 microchromatography described by Huisman et al. (reference 12) to check the reliability of the new modified method. In the Pediatric Clinic of Cagliari University where the original Huisman method was used the values of HbA2 obtained were as follows: Normal subjects (35 cases) 2.470 +/- 0.351, beta-Thalassemia heterozygous subjects (38 cases) 5.142 +/- 0.342. The modified method gave respectively the following results: Normal subjects 2.578 +/- 0.303, beta-Thalassemia heterozygous subjects 5.465 +/- 0.400. No overlap was found between normal and beta-thalassemia trait samples. It is suggested that the simplified method is very reliable and very simple to organize even in laboratories with few facilities and when needs for only few tests per week exist.

Child↗
PubMedDate not supplied

Erythrocyte formimino glutamate transferase in FIGLU aciduria.

A patient is described who presented at an early age with failure to thrive and vomiting, and had a gross excretion of formimino glutamic acid. She had normal concentration of serum folate and vitamin B12, and no haematological abnormalities, and is not mentally retarded. The Michaelis constant for erythrocyte formimino glutamate transferase was in the normal range, but the enzyme behaves differently from that from reference subjects with respect to inhibitors and activators.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

[IGFBP3 in the assessment of growth hormone defects].

Evaluation of growth hormone dependent IGFBP3, stable in time and with no circadian variations is a useful parameter for diagnosing growth hormone deficit. The IGFBP3 was evaluated using sera, collected and kept at -20 degrees C, from subjects classified according to auxologic characters and response sup. or inf. to 8 ng/ml GH after two stimulation tests and median nocturnal GH sup. or inf. to 3 ng/ml. Two groups were studied: 1) Small stature GHD (growth hormone deficiency): 14 cases; 2) Constitutional small stature (RCC,BSF): 12 cases. A third group composed of 8 normal height, weight and disease-free children formed the control group. The IGFBP3 values were below the 5th percentile in 86% of GHD cases, between the 5th and 95th percentile in 66.6% of constitutionally short stature children and in all normal controls was about the 50th percentile. The IGFBP3 also shows a statistically significant correlation between median nocturnal GH, both in deficient and constitutionally short stature groups (p < 0.01).

Adolescent↗