Central nervous system involvement in two siblings affected by hereditary transthyretin amyloidosis 30 years after liver transplantation: a model for gene-silencing therapies.

Hereditary transthyretin amyloidosis (ATTRv) is a genetic, autosomal dominant, severe disease characterized by progressive sensory-motor polyneuropathy, cardiomyopathy, dysautonomia, renal and eyes involvement, provoked by the deposition of the mutated and unstable transthyretin protein. In past decades, liver transplant, avoiding the synthesis of the pathologic protein, has been a good, even if not resolutive, treatment. In this report we describe two siblings affected with ATTRv, who developed first symptoms of disease at a young age and underwent a liver transplant with prompt resolution of clinical manifestations. After several years, central nervous system and eyes symptoms relapsed despite treatment, considering that the synthesis of mutated protein continues in choroid plexus, a locum where current therapies are unable to act. In our opinion, these cases represent a long-term prognostic model for the novel gene-silencers approved for ATTRv, because they share a similar therapeutic effect with liver transplant: the block of mutated protein synthesis limited only in the main transthyretin (TTR) production organ is able to prevent the progression of disease only for some years, but not to avoid long-term clinical worsening due to extra-hepatic production of TTR. Novel future therapeutic strategies are demanded to guarantee a better long-term stabilization of symptomatology.

[Thyroid cancer and its incidence in nodular thyroid diseases: our experience]. / Il cancro della tiroide e la sua incidenza nelle tireopatie nodulari: nostra esperienza.

The authors report their experience with 453 cases of thyroid nodules observed over a period of 5 years. The intention was to determine the incidence of malignant lesions. A female prevalence of the nodular pathology was clearly evident (7.2%), with a maximum incidence between the 3rd and 6th decade. Among malignant tumors (14.2%) the following histologic types were most frequently found: papillary adenocarcinoma (5.7%), follicular adenocarcinoma (2.7%), occult cancer (2.7%), anaplastic cancer (2.3%). Up to the 4th decade female prevalence was clearly evident (Max in the 3rd decade; F/M ratio = 6.5); then an increased male incidence was registered bringing to a reduction of the F/M ratio (1.5 in the 5th and 6th decade) and to its inversion in the 7th decade (M/F = 1.25).