Biomedical subjects
Publications and source records attributed to S Li Volti.
Nine members of a Sicilian family, in four successive generations, showed a congenital eye defect of much variable severity, from simple blepharoptosis to complete external ophthalmoplegia, without other ocular or extraocular abnormalities. The anomaly in this pedigree was transmitted as an autosomal dominant character with incomplete penetrance and extremely variable expressivity.
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.
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The case of a young man affected by homozygous beta-thalassemia is reported who had serologic findings of a prior HBV infection and who presented with clinical and biochemical acute HBV infection probably caused by HBV reactivation after allogeneic bone marrow transplantation. The patient's clinical history suggests that HBV can persist without serological findings of HBsAg and HBV-DNA in persons previously infected by HBV and that HBV reactivation can occur 2 years after allogeneic bone marrow transplantation, as a result of immunosuppressive therapy or an HCV activation.
We report a 2 months old girl affected by renal hypoplasia, genital abnormalities, syndactyly and a pattern of minor anomalies. Although the pattern of malformations overlaps the Townwes-Brock syndrome and that reported by Green et al in 1996, differential diagnosis was made with other several syndromes including acral and renal anomalies.
The Authors report a case of diaphragmatic eventration associated with Wolff-Parkinson-White's syndrome. It's difficult to explain this unusual association. It's possible that the presence of cardiac accessory pathways in this particular patient is due to the alteration of the normal anatomical relationship resulting from the diaphragmatic eventration.
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The authors investigated a possible relationship between alpha 1-antitrypsin (alpha 1AT) phenotypes, serum levels of alpha 1AT and liver disease in transfusion dependent thalassemia major subjects. The distribution of alpha 1AT phenotypes suggest the absence of association between alpha 1AT variants and thalassemic genes and underlines again the low incidence of pathologic variants in Italian population. Mean concentration of alpha 1AT was significantly increased in thalassemic patients and was not related to transaminase levels. These results show that other factors are responsible for the development of liver disease in transfusion dependent thalassemic subjects.
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