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Biomedical subjects

O Giardini

Publications and source records attributed to O Giardini.

14 recordsLinked to original sources
PubMed1992

Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.

We report on a boy with short stature, mental retardation, seizures, follicular ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other anomalies, and a normal chromosome constitution. The clinical findings include all the features that dermotrichic and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome have in common and in addition those that characterize IFAP syndrome (photophobia, recurrent respiratory infections, etc.), those that are present only in dermotrichic syndrome (nail anomalies, hypohydrosis, megacolon, vertebral defects, etc.) and additional ones (enamel dysplasia, renal anomalies, inguinal hernia, etc.). Two maternal uncles were referred as being affected by alopecia and ichthyosis suggesting X-linked recessive transmission. Various hypotheses concerning the relationship between the 2 syndromes and the present case are discussed.

Alopecia↗
PubMed1991

Two sisters with generalized dystonia associated with homocystinuria.

Two sisters with progressive dystonic syndromes and homocystinuria are presented. The biochemical defect was not accompanied by the typical clinical features of homocystinuria. Magnetic resonance imaging (MRI) revealed bilateral lesions of the basal ganglia. Homocystinuria should be considered among the causes of symptomatic or secondary dystonias associated with basal ganglia lesions.

Adult↗
PubMed1990

[Intestinal absorption of vitamin E in children with atrophy of the jejunal mucosa].

The intestinal absorption of vitamin E is often thought to be closely correlated to that of fatty acids, but the biochemical mechanisms involved in the process are still not clear. For this reason, the present study aimed to assess the absorption of triglycerides and vitamin E, following oral administration, in 11 children with suspected malabsorption syndromes. Intestinal biopsy in 9 children showed the presence of a flat mucosa, whereas no changes were present in 2 patients. The results confirm the inverse correlation between the absorption of triglycerides and vitamin E, as if tocopherols used an independent system of transport. These findings contrast with those reported in the literature perhaps due to the low level of precision of colorimetric techniques previously used to assay vitamin E.

Atrophy↗
PubMed1979

Malonyldialdehyde formation, oxygen consumption, fatty acid composition in newborn platelets stimulated by thrombin.

The release reaction, the formation of malonyldialdehyde (MDA), the pattern of oxygen consumption, and the variation in fatty acid composition after addition of thrombin (1.67 U/ml) have been investigated in newborn platelets, comparing the obtained data with analogous values showed by adult platelets assumed as normal controls. Newborn platelets showed a release reaction 20% lower than that of controls. MDA formation, even in the presence of NEM and the burst in oxygen consumption, resulted to be similar in newborn and adult platelets (p greater than 0.3); the burst was also similar after the addition of thrombin (10 U/ml) in the presence of antimycin and aspirin. The ratio between formed MDA and oxygen consumption was 1:10 in adult platelets while it was 1:15 in those of newborns. The study of fatty acid composition demonstrated that in newborn platelets at rest, arachidonic acid is significantly in a higher concentration than in controls and that it decreases after stimulation with thrombin. It is concluded that the pathway of prostaglandins is normally stimulated by thrombin in newborn platelets.

Adult↗
PubMed1978

Serum lipid pattern in beta-thalassaemia.

Serum lipids, phospholipid fractions and the composition of serum lipid fatty acids were studied in 20 children presenting beta-thalassaemia major, 20 heterozygous children and 20 normal controls. Total serum phospholipids, their fractions and cholesterol were significantly lower in patients with thalassaemia major. These changes were referred to hepatic damage and to severe anaemia, respectively. Some serum lipid polyunsaturated fatty acids were significantly decreased in patients with thalassaemia major as compared to heterozygotes and normal controls. Since these alterations are a sign of lipid oxidation, the causes of this phenomenon are discussed.

Child↗