[MODY 3 correlations between the genotype and clinical manifestations of diabetes].

We analyzed the mutations identified in a family affected by Maturity-Onset Diabetes of the Young (MODY3), and searched for correlations between the genotype and clinical manifestations of diabetes. In 4 of 9 subjects we have demonstrated a heterozygous missense mutation in hepatocyte nuclear factor 1 alfa (HNF1α). The missense mutation, caused by a G>A transition at nucleotide 815 of exon 4 (c.

Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

Analysis of GCK and HNF1A genes in 32 MODY families identified three novel mutations: the missense mutation G170D and the deletion/insertion P432Xfs in GCK and the splicing mutation IVS4nt-1G>T, in HNF1A. For IVS4nt-1G>T the sequence analysis of RT-PCR products demonstrated exon skipping with the use of a cryptic splicing site.

[Minimally invasive surgery versus bilateral neck exploration for primary hyperparathyroidism: controlled prospective study. Role of intraoperative rapid parathyroid hormone assay and radiological preoperative detection of adenomas].

There is considerable controversy today concerning the most appropriate surgical approach for patients with primary hyperparathyroidism. The standard surgical approach involves a bilateral neck exploration. Minimally invasive surgery involves the removal of one parathyroid gland, pre-surgically localized with radiological techniques.