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Biomedical subjects

L Pavone

Publications and source records attributed to L Pavone.

At least 127 records · Page 7Linked to original sources
PubMed1980

[Neurological and muscular manifestations of thalassemia major (author's transl)].

Five out of 89 sicilian children with homozygous thalassemia major had central nervous system signs but they were probably not due to the disease. Much more commonly peripheral nerve or muscle involvement was detected. Among 51 patients who had detailed clinical and electrophysiological studies (EMG and nerve conduction studies) 20 (39.2%) had clinical signs of neuro-muscular disease and five others had electrophysiological abnormalities only. Serum CPK was normal in all cases. The results suggest that muscle disease in thalassemia major is mostly of neurogenic origin.

Adolescent↗
PubMed1979

Krabbe's disease with unusual clinical and morphological features.

A progressive encephalopathy appeared in two sibs aged 7 and 5 months. The children died at 23 respectively 29 months of age. Autopsy of the second child disclosed a severe demyelination involving the whole brain. Only few globoid cells were identified. Ultrastructural and biochemical investigations confirmed the diagnosis of Krabbe's disease.

Astrocytes↗
PubMed1979

Immuno-deficiency in Schwartz-Jampel syndrome.

Two sisters born in a consanguineous marriage and affected by Schwartz-Jampel syndrome had a complex immunodeficiency, involving not only the humoral but also the cellular immune response.

Abnormalities, Multiple↗
PubMed1978

Schwartz-Jampel syndrome in two daughters of first cousins.

The clinical and pathological features of two sisters born from consanguineous parents and affected by the rare Schwartz-Jampel syndrome are reported. The parental consanguinity of these two patients and the findings of electromyographic changes in the mother strongly support an autosomal recessive pattern of inheritance. No response of growth hormone secretion to arginine and insulin stimulation tests was found.

Abnormalities, Multiple↗
PubMed1977

Trisomy 22 mosaicism.

A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.

Abnormalities, Multiple↗
PubMed1977

Haematological studies in a case of oculocerebrorenal syndrome.

A four-year-old boy affected by oculocerebrorenal syndrome had moderate anaemia. The haematological study indicated hyperhaemolysis probably due to an extra-erythrocytic factor. It is suggested that this factor might be related to the metabolic disturbance of the disease, particularly the hyperchloraemic acidosis.

Anemia↗
PubMed1976

Hyperprolinaemia: a disease which does not need treatment?

The authors observed two cases of hyperprolinaemia (one of type I and the other of type II) which were asymptomatic. The anomalies described up to the present time in association with hyperprolinaemia are inconstant, nonspecific, and extremely heterogeneous. This suggests that the relationship between hyperprolinaemia and other anomalies is purely coincidental, and that a therapeutic approach by diet is unjustified.

Amino Acid Metabolism, Inborn Errors↗
PubMed1975

Asymptomatic type II hyperprolinaemia associated with hyperglycinaemia in three sibs.

Three clinically normal sibs were discovered to have type II hyperprolinaemia in a routine serum amino acid screening programme in Sicily. In addition to the basic biochemical features of type II hyperprolinaemia, all 3 children had marked hyperglycinaemia, whereas their parents had both normal blood proline and glycine concentrations. Clinical normality in individuals with hyperprolinaemia may suggest that these two metabolic disorders (types I and II) are benign entities. Furthermore, the absence of clinical abnormality in these sibs, despite the presence of marked hyperprolinaemia and hyperglycinaemia, may suggest that neither of these findings alone causes brain damage. The hyperglycinaemia in these sibs is unexplained and is an unusual if not unique finding in association with hyperprolinaemia.

Adolescent↗
PubMed1975

[Congenital hereditary corneal dystrophy associated with various extraoculary anomalies].

Two subjects (brother and sister), children of consanguineous parents, showed a typical congenital corneal dystrophy associated with mental retardation and a bilateral malformation of the little finger. One of them, a boy of 10, was fat and showed a hearing loss for high tones. His corneal opacity diminished during 7 years observation. Seeing that the affected tissues were of mesenchymal origin, the authors conclude that the syndrome was mesodermal.

Child↗