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Mutations in the Angiogenin gene (ANG) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutation in the signal peptide of the ANG gene in a sporadic patient with ALS (SALS). The molecular analysis of the ANG gene also demonstrated an allelic association with the rs11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients. Our finding supports the evidence that the ANG gene is involved in ALS.

It has been suggested that β-N-oxalylamino- l -alanine, a non-protein amino acid present in the Lathyrus Sativus seeds, may play a role in the etiopathogenesis of neurolathyrism, a toxic form of motor neuron disease clinically characterized by a severe spastic paraparesis. In order to investigate the mechanisms of β-N-oxalylamino- l -alanine-mediated cell death, we studied the effect of this neurotoxin as well as other excitatory amino acids agonists on the growth and survival of motoneuron hybrid ventral spinal cord 4.1 cells. β-N-oxalylamino- l -alanine was toxic to ventral spinal cord 4.1 cells in a concentration-dependent fashion (0.5–10 mM). Among the excitatory amino acids tested, only glutamate (1–10 mM), quisqualate (1 mM) and, with less extent, β-N-methylamino- l -alanine (10 mM) induced a significant reduction of cell survival. The effect of Lathyrus Sativus neurotoxin was a slow process, becoming apparent only after 24–48 h of incubation. Interestingly, a mathematical analysis applied to the time course and dose curve of β-N-oxalylamino- l -alanine toxicity suggested that even for very low concentrations of the amino acid it is theoretically possible to predict a time-dependent effect. The cell death was not blocked by antagonists of N-methyl- d -aspartate or non-N-methyl- d -aspartate receptors; aurintricarboxylic acid and α-tocopherol gave a partial protection; cysteine (1 mM) prevented the toxic effect of both Lathyrus Sativus neurotoxin and glutamate as well as quisqualate. Morphologically, in the presence of either β-N-oxalylamino- l -alanine, glutamate or quisqualate, ventral spinal cord 4.1 cells showed apoptotic features also confirmed by ISEL technique and agarose gel electrophoresis of genomic DNA. Thus, our results suggest that in ventral spinal cord 4.1 motoneuron hybrid cells, in the absence of functional synaptic excitatory amino acid receptors, β-N-oxalylamino- l -alanine induces cell degeneration through an apoptotic mechanism, possibly mediated by a block of cystine/glutamate X−c antiporter.

Ninety-two patients affected by chronic cerebrovasculopathy were treated with cytidine diphosphate choline (CDP-choline) 1000 mg/day i.m. or with placebo, in a double-blind study. Two cycles of therapy of 4 weeks each were performed, with an interval of 1 week. There were 46 patients in each group with chronic cerebrovascular diseases, and the two groups were comparable as far as mental deterioration was concerned. The following psychometric tests were administered: Toulouse-Pieron (attention to non-verbal stimuli), Randt Memory test (memory), Sandoz Clinical Assessment of Geriatrics (SCAG, measurement of the behavioral and emotional control). The comparison between the two groups revealed significant improvements in the CDP-choline group compared with the placebo group in some of the attention capabilities (decrease in the number of wrong answers at the Toulouse-Pieron test), of the mnemonic capabilities (‘General Information’ subtest of Randt Memory test) and behavioral capabilities (SCAG ‘affective disturbances’ score). No side-effects were detected in the CDP-choline group.

In Italy, the oldest country in the world (1), over 60 years is 24,5%, where the elderly people, with chronic pathologies needs of healthcare in different ways of Telemedicine (2), and the emergency for Elderly alone need new professional roles of healthcare at home, as “social healthcare keeper”(3), and many applications of Tele-healthcare and Tele-diagnosis (4). We introduce an Ultrasound System (USy): a modular integrated system diagnosis in a PC for images diagnosis, acquisition and transmission signals within the healthcare assistance (Fig.1); 128 channels of digital real-time, high resolution ultrasound imaging; probes and software are from Terason Inc. (USA), while ECG, Spirometry and PulseOxymetry are from QRS Diagnostic Inc (USA). It is a general purpose echo-graphic on outside the PC in Windows; the size is like the mobile phone; the sensor system is complete: linear plane, convex, endo-cavity, phased array. The most innovative feature is the micro miniaturized chip (Fig.2): high weight, costs and power waste reduction. The multifunction integration on a PC platform is under construction by Prisma Imaging Western Europe (Italy) and the modules in diagnosis can be integrated in desktop and laptop, in palm also for EDP (Fig.3). The software is compatible Microsoft Win2000 or XP OS and consequently it is easy to use, also it includes a dedicated Electronic Patient Folder. Connecting Medical Informatics and Bio-Informatics R. Engelbrecht et al. (Eds.) ENMI, 2005 1210