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Biomedical subjects

F Mollica

Publications and source records attributed to F Mollica.

At least 91 records · Page 5Linked 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↗
PubMed1979

A prospective study of 18 infants of chronic HBsAg mothers.

28 of 1002 pregnant Sicilian women (2.8%) were asymptomatic HBsAg chronic carriers. 18 children of these women were followed and at least 15 of them showed evidence of transplacental infection with HBsAg, resulting either from the presence of the antigen in cord blood, or from the development of the corresponding antibody in the serum within the first 2 months of life. Despite this, only 2 or 3 of the infants developed chronic antigenaemia from age 2--4 months. Only the infants whose mothers were HBeAb-negative, and who themselves remained HBsAb-negative during the first months of life, became HBsAg carriers. On the basis of these results, a strategy is suggested for selecting infants from areas with a high prevalence of HBsAg carriers so that they can be given passive immunisation with hyperimmune globulin.

Carrier State↗
PubMed1979

Viral hepatitis B and Wiskott-Aldrich syndrome.

A 4-year-old boy affected by Wiskott-Aldrich syndrome had overt viral hepatitis B after repetitive blood transfusions. He was given immune serum containing HBs antibodies, with only transient improvement. The HBsAg titer decreased immediately after each administration of immune serum, but 2 days later it was higher than before. This effect could be explained by the presence of HBs antigen-HBs antibody complexes in the immune serum, not detected by the current testing procedure.

Child, Preschool↗
PubMed1978

Autosomal recessive postaxial polydactyly type A in a Sicilian family.

Postaxial polydactyly type A was present in several members of a Sicilian family. The anomaly was probably transmitted as an autosomal recessive character. Two polydactylous subjects were also beta-thalassaemia carriers, but a linkage between the two mutant genes could be excluded. Two patients with hexadactyly had a fifth digital triradius.

Adult↗
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↗