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Biomedical subjects

S Li Volti

Publications and source records attributed to S Li Volti.

At least 55 records · Page 3Linked to original sources

Autosomal dominant cone-rod dystrophy associated with sickle-cell trait in a Sicilian family.

Three Sicilian siblings had a typical cone-rod dystrophy. The same ocular anomaly was probably present in their mother and in the maternal grandmother. The three probands were also carriers of Hb S, but this last anomaly was also present in an unaffected brother. It is concluded that the cone-rod dystrophy of this family is inherited as an autosomal dominant character and that its association with sickle-cell trait is coincidental.

Adolescent↗

Glucose-6-phosphate dehydrogenase deficiency and incidence of cataract in Sicily.

The incidence of G6PD deficiency in red blood cells of 241 Sicilian cataractous patients (138 males and 103 females) and in the lens of 32 subjects (15 males and 17 females) of the same group was evaluated. The incidence of G6PD deficiency was significantly higher than expected (p less than 0.001), both in RBCs and in lens. The results suggest that G6PD deficiency is a risk factor for cataract both in hemizygous males and heterozygous females.

Adult↗

Treatment of infantile spasms with sodium dipropylacetic acid.

Eighteen infants with infantile spasms were given sodium dipropylacetate at a dosage of 20mg/kg/day. They were clinically examined before treatment, and again after one to three years of therapy. The short-term clinical response was excellent in four patients, good in eight, poor in four and there was no change in two. At follow-up, two patients were clinically normal, but 10 had severe and six had moderate mental retardation. Seven patients still had residual seizures. Since these results do not differ significantly from those obtained with hormonal treatment, the authors suggest using sodium dipropylacetate (which has less frequent and less severe side-effects than adreno-corticotropic hormone) as the only initial drug, and to use hormonal treatment only in unresponsive patients.

Adrenocorticotropic Hormone↗

Effect of polyamines on autohemolysis: studies on normal and thalassemic children.

The effect of glucose and polyamines (putrescine, spermidine and spermine) on the rate of autohemolysis in normal and thalassemic red blood cell (RBC) populations has been investigated. In addition, the specific activity of superoxide dismutase (SOD) was measured on blood samples obtained from the same patients. Our results show that glucose, and to a less extent polyamines, reduce the autohemolysis of thalassemic RBC, and that specific activity of SOD is increased in RBC from thalassemic patients compared to normal subjects.

Child↗

Increased erythrocytic spermine in Duchenne muscular dystrophy.

Erythrocytes of patients with Duchenne muscular dystrophy have been found to have elevated levels of spermine, a polyamine with a membrane-stabilizing action. Although a specific, increased spermine concentration is an additional biochemical abnormality documenting the involvement of erythrocyte membrane in Duchenne muscular dystrophy. Normal level of spermine were found in female carriers.

Child↗

Hematological and serological aspects of Mediterranean kala-azar in infancy and childhood.

Some hematological aspects of Mediterranean kala-azar were studied with radioisotopical methods. The results showed that pancytopenia is due to increased destruction of circulating elements in the spleen, less in the liver, and not to a defect in production. The serological alterations are characterized by an increase of immunoglobulins, and in particular of IgG, IgA and IgM, which is recorded not only in the acute phase of the disease but also many years after recovery. An hypothesis to explain the persistent alterations of serum proteins is suggested.

Autoantibodies↗