Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epilepsy, detected by BAC genome array-CGH.

This report describes the usefulness of the BAC genome array-CGH platform in the detection of cryptic rearrangements. We examined ten patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism and/or epilepsy. This approach led us to discover further cryptic chromosomal rearrangements, not previously detected by conventional cytogenetic procedures, and allowed us to better delineate genotype/phenotype correlation. Our experience shows the validity of the BAC platform as a reliable method for genome-wide screening of chromosomal aberrations in patient with idiopathic mental retardation and/or in association with autism and epilepsy.

Novel drug delivery systems for natural extracts: The case study of Vitis Vinifera extract-SiO2 nanocomposites.

Ball Milling technique has been used to prepare for the first time Vitis Vinifera extract-silica nanocomposites (VV-SiO2 NCs), which combine the pharmacological effects of the extract with the effectiveness of silica as drug delivery system and active component in the treatment of wound healing. Different contents (1.0, 9.0 and 33.0 wt%) of Vitis Vinifera ethanolic extract were loaded into the silica matrix by grinding the extract with fumed silica using a planetary mill apparatus. The effect of the starting mixture composition and milling time on the final products was examined. The efficiency of the milling process was studied by X-ray Powder Diffraction, Nuclear Magnetic Resonance, and Infrared Spectroscopy, indicating that the natural extract was not affected by the increasing of the milling time. The successful loading of the extract was demonstrated by Nitrogen adsorption/desorption measurements, which showed a decrease in the SSA and pore volume of the silica with the increasing of the extract amount. Morphology of the nanocomposites, investigated by Scanning Electron Microscopy, showed an increased agglomeration in the nanocomposites with the increment of the VV extract amount. Studies on the total phenol quantification and antioxidant activity of the natural extract before and after incorporation in the silica matrix were also carried out. The obtained results indicate that the milling process does not alter the VV extract components, which result to be embedded in the silica matrix. An increase of the antioxidant activity with the increment of the extract amount in the nanocomposites, up to values comparable to the pure VV extract, was also observed.

[Dysplastic cysts of the liver: our experience]. / Le cisti displastiche del fegato. Nostra esperienza.

AIM: Systematic surveys with advanced non-invasive imaging techniques have revealed that hepatic cysts are quite common in the general population. Therefore, we retrospectively examined our case series and compared it with the literature. METHODS: Between January 1990 and December 2000, 228 patients with non-parasitic liver cysts were referred to the outpatients section of the Department of Surgery of the University of Cagliari and 23 were submitted to treatment: 14 patients (60.8%) for solitary cyst and 9 (39.2%) for multiple simple cysts of the liver. One patient (4.5%) had right upper quadrant pain. Eleven (47.8%) patients were asymptomatic: 7 (63.7%) required treatment for other pathologies, 3 (27.3%) for a progressive enlargement of the cyst and 1 (9%) for a suspected hydatid disease. Mean diameter of the treated cysts measured by preoperative CT or US was 8.8 cm (range 7-14). Percutaneous aspiration-injection reaspiration (PAIR) was performed in 5 patients (21.7%), US-guided in 2 cases (40%) and CT-guided in 3 (60%). Twenty patients (86.9%) underwent cysts unroofing, 18 (78.2%) with open surgical fenestration and the latest 2 cases with a laparoscopic approach. Two patients had PAIR as second treatment for recurrence: CT-guided in one and US-guided in the other case. RESULTS: Four (25%) out of 16 patients treated exclusively for cystic liver disease, had fever in 3 cases and nausea and vomiting in 1 case; 8 patients (50%) had an intraperitoneal drainage for a mean of 6-7 days (range 4-11) and of 116 cc of serum-hematic liquid. CONCLUSIONS: In our opinion the choice of an adequate treatment must be based on an accurate evaluation of the clinical aspects of the patients and on the characteristics of cystic lesions such as number, size and location. These data let us to choose a surgical treatment rather than a strict US follow-up and to get the best outcome in terms of absence of recurrence, and less biological and economic costs.