Chromosomal aberrations, sister chromatid exchanges and high frequency cells in young patients with neurofibromatosis 1 (NF1).

Chromosomal aberrations (CAs), sister chromatid exchanges (SCEs) and high frequency cells (HFCs) have been assessed in peripheral blood lymphocytes of 10 neurofibromatosis (NF1) patients and 10 healthy controls. In both groups, the spontaneous rates and the induced (bleomycin for CA and MMC for SCE) frequencies were analyzed. No differences between cells from NF1 patients and controls were observed with respect to spontaneous or bleomycin induced CA. Spontaneous or MMC induced SCE frequencies were also similar in NF1 patients and controls. HFCs, on the contrary, were statistically lower in NF1 patients.

[Growth velocity in thalassemic children receiving different protocols of chelating therapy]. / Velocità di crescita dei bambini talassemici sottoposti a diversi protocolli di terapia chelante.

The aim of this study was to compare growth velocity in thalassemic children using two different treatment protocols. Thalassemic children were initially treated with high daily doses of desferrioxamine, obtaining a good rate of initial growth which then unexpectedly slowed down later. The introduction of a new treatment protocol reducing both the dose and frequency with which the drug was administered provoked a significant increase in the rate of growth greater than that observed in the group treated using the previous protocol.

[Auxological evaluation of a patient with Dubowitz syndrome]. / Valutazione auxologica di un caso di sindrome di Dubowitz.

The Authors describe the growth of a 2 year old child affected by Dubowitz syndrome. The child came to their observation because of short stature and microcephaly.