[Congenital factor V deficiency and intraventricular hemorrhage of prenatal origin]. / Deficit congenito di fattore V ed emorragia intraventricolare di origine prenatale.

The Authors describe a case of congenital coagulation factor V deficiency with severe prenatal intraventricular hemorrhage. Factor V is an essential enzyme catalysing the process of thrombin generation. Low levels of enzyme were also found in both parents, who demonstrate subclinic alterations of coagulation parameters. The severe deficiency of factor V in the newborn (8%) caused frequent and severe intracranial and gastric hemorrhages that brought newborn to death in few weeks.

[William-Beuren syndrome: description of a case]. / Sindrome di William-Beuren: descrizione di un caso.

The Authors describe a case of William-Beuren Syndrome, also know as "Fanconi-Schlesinger Syndrome" or "Idiopathic Hypercalcaemia, supravalvular aortic stenosis, elfin facies syndrome". Irritability and chronic constipation are early features. Hypercalcaemia may occur in infancy but rarely after 1 year age. The facies is characteristic. Supravalvular aortic stenosis is the most frequent cardiac abnormality. Other common features are short stature, mental retardation and significant behavioural disorders. In this case report typical facies, short stature, behavioural disorders are associated with epilepsy in early years of life. Hypercalcaemia or cardiovascular malformation were not found.

[Hypohidrotic ectodermal dysplasia syndrome. Description of a clinical case]. / La sindrome della displasia ectodermica ipoidrotica. Descrizione di un caso clinico.

A case of Hypohidrotic Ectodermal Dysplasia is reported. Inability of sweating is associated with characteristic craniofacial anomalies, oligo-anodontia and rare, thin hair. X-linked and autosomal inheritance are both supposed.

[Hemorheologic characteristics in beta-thalassemic homozygotes before and after splenectomy]. / Caratteristiche emoreologiche nella beta-talassemia omozigote prima e dopo splenectomia.

In a group of 36 homozigous beta-thalassaemic children we studied the effect of splenectomy on hemorheologic characteristics. The aim of the work was to evaluate the importance of such operation either on anemia or on erythrocyte deformability. Whole blood viscosity was measured with a Brookfield Microviscometer (LVT) and erythrocyte deformability was evaluated with the erythrocyte filtration technique using policarbonate membranes. The more the erythrocyte deformability decreases, the more the erythrocyte filtration rate decreases. Our data show that splenectomized children, have worse hemorheologic characteristics according to the longer survival time of pathological red blood cells in spite of their reduced deformability. This behaviour can be modified only by blood transfusion that we have seen to be able to reduce whole blood viscosity and to increase erythrocyte filtration rate in splenectomized children. We think that splenectomy must be delayed as long as possible so that hemodinamyc conditions cannot be worsened. An hemorheologic monitorage could be useful for diagnostic and prognostic evaluations both in splenectomized and not splenectomized children.

[Correlation between plasma IgE and IgA in infant nephrosis and nephrotic syndrome]. / Correlazioni fra IgE e IgA plasmatiche nella nefrosi infantile e nella sindrome nefrosica.

A study on IgE - IgA plasmatic level has been carried out in the acute phase and in remission of minimal changes nephrosis (MCN) and in glomerulonephritis with nephrotic syndrome (NS). The results obtained are the following: 1) Mean values of Ig classes were impaired in comparison with the normal values of children of the same age, both in MCN and in NS. 2) IgE were increased, particularly in children over 6 years in the MCN acute phase; the values decreased within normal after the remission was achieved. 3) IgA, on the contrary, were decreased in the subjects over 6 years, in the MCN acute phase. 4) No significant correlation was found between the two Ig classes. 5) The modifications of the Ig plasmatic level during the remission, after corticosteroid therapy was characterized by IgE reduction; IgA were only slightly, but not significantly, decreased in the same phase.