Biomedical subjects
Publications and source records attributed to F Cicale.
The authors, after a description of Apert syndrome, have reported a case of an observed newborn. In this case the paternal age was not determinant and the mother was young and in good health. No chromosomal anomalies were found as to the baby. They have reported the baby's malformative condition has been reported in order to give a contribution that may increase the cases observed worldwide.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
A case of metatropic dwarfism is presented. Particular reference is made to the differential diagnosis of this form.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
In describing a case of congenital dislocation of the knee which was brought to the authors' attention, the paper highlights the three most important types of anatomofunctional difference associated to this malformation.
The Authors studied 8 patients with an average age of eight and a half affected with G.N.A.P.S. with "minimum urinary signs". A renal ecography carried out in a diagnostic approach showed in 7 cases out of 8 the constant presence of an increased volume of the kidney, associated with hyperecogenicity and 3rd degree thickening of the cortical. They conclude that this information could be of great use for a rapid diagnostic orientation in forms of G.N.A.P.S. "with minimum urinary signs".
The above mentioned after a careful investigation of the modern pathogenic aspects of Bartter's syndrome, evaluated the markers that are useful for the prenatal diagnosis of Bartter's syndrome, they pointed out, as in both cases the presence of polyhydramnios not associated with ecographically detectable fetal malformations, elevated chloride in the amniotic fluid, accompanied in one case by increased levels of aldosterone, in the other case by the increase of K, as being reliable markers for the prenatal diagnosis of these conditions.