Biomedical subjects
Publications and source records attributed to S G Gragnani.
A case of primary congenital lymphedema is reported. Asymmetrical involvement of the low limbs and unremarkable family history for lymphedema (indicating of de novo mutation) was the main findings.
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The value of serum thyroglobulin (Tg) determination in the differential diagnosis of congenital hypothyroidism was assessed by serum Tg measurements in 14 patients with proven congenital hypothyroidism, in 3 subjects with transient perinatal hypothyroidism, in 3 newborns with congenital thyroxine binding globulin (TBG) deficiency and in 34 normal controls. Serum Tg was undetectable in all 6 cases with thyroid agenesis, normal or moderately elevated in the 4 cases with ectopic thyroid, markedly increased in the 4 cases with dyshormonogenic goiter and normal in the 3 cases with transient hypothyroidism and in the 3 with TBG deficiency. The present data indicate that serum Tg measurements may be useful in the differentiation of athyreotic hypothyroidism from other conditions of congenital hypothyroidism.
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A case of ectrodactyly characterized by simple absence of the third finger of the right hand is reported. Clinical and genetic aspects are considered.
The Authors report one case of suppurative thyroiditis in a 21-months-old girl and debate the principal aspects.
The authors report a case of Kawasaki disease observed in a 3-years and 6-months-old girl, with pericardial effusion and premature cardiac beats. The pericardial effusion disappeared after gamma-globulin i.v. treatment (2 gr/kg); the premature cardiac beats, although progressively reducing, completely disappeared only after 6 months.
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