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Background - A new modified-release (MR) granule formulation of valproate (VPA) has been recently developed for the treatment of children with epilepsy. It consists of tasteless microspheres that can be sprinkled on soft foods and easily swallowed. There are no data on the effectiveness of this formulation in pediatric age. Aim of the study -To evaluate the effects of the abrupt switch from solution to VPA MR granules in children undergoing chronic treatment. Methods -We enrolled children receiving VPA solution as sole or adjunctive therapy and switched them to MR granules at identical dosages. VPA blood level, treatment efficacy (clinical and EEG data), tolerability (adverse reactions), palatability, ease of administration, and compliance were evaluated before switching (T0) and after 4 weeks (T1). Results -Out of 112 enrolled children, 108 (96.4%) completed the evaluation. We observed no significant differences between the patients at T0 and T1 in VPA blood levels, treatment efficacy, tolerability, and compliance. MR granules were judged more palatable (P < 0.05) and easier to administer (P < 0.05) than solution by children and parents. At 6-month follow-up, all patients continued to use MR granules. Conclusion -Modified-release granule formulation of VPA may be a reliable alternative to solution for its convenience of use

Information on the effects of early treatment of seizures on mortality is scarce. The authors assessed the survival of patients with a first generalised tonic-clonic seizure, randomised to immediate treatment (treated) versus treatment only in the event of seizure recurrence (untreated), over a 20-year period. METHODS: The authors followed 419 patients. The median follow-up was 19.7 years (range 0.2-21.5) for a total of 7867 person-years. RESULTS: 40 persons (9.6%) died during follow-up, 19 (8.9%) treated and 21 (10.3.%) untreated. The probability of surviving was 100% at 1 year, 97% (95% CI 95% to 99%) at 5 years, 94% (91-97) at 10 years and 91% (87-95) at 20 years in treated patients and 100%, 98% (95-100), 97% (94-99) and 89% (85-94), respectively, in untreated patients (p=0.7). After adjustment for treatment of first seizure and putative risk factors (gender, age, seizure type, previous uncertain seizures, family history of seizures, pre-, peri- and postnatal risk factors, remote aetiological factors for epilepsy, abnormal neurological examination, CT or MRI abnormalities, EEG abnormalities and acute treatment), only the presence of aetiological factors for epilepsy predicted a higher mortality (HR 3.4, 95% CI 2.5 to 4.3%; p

AIM: To describe a spectrum of intracerebral large artery disease in Aicardi-Goutières syndrome (AGS) associated with mutations in the AGS5 gene SAMHD1. METHOD: We used clinical and radiological description and molecular analysis. RESULTS: Five individuals (three males, two females) were identified as having biallelic mutations in SAMHD1 and a cerebral arteriopathy in association with peripheral vessel involvement resulting in chilblains and ischaemic ulceration. The cerebral vasculopathy was primarily occlusive in three patients (with terminal carotid occlusion and basal collaterals reminiscent of moyamoya syndrome) and aneurysmal in two. Three of the five patients experienced intracerebral haemorrhage, which was fatal in two individuals. Post-mortem examination of one patient suggested that the arteriopathy was inflammatory in origin. INTERPRETATION: Mutations in SAMHD1 are associated with a cerebral vasculopathy which is likely to have an inflammatory aetiology. A similar disease has not been observed in patients with mutations in AGS1 to AGS4, suggesting a particular role for SAMHD1 in vascular homeostasis. Our report raises important questions about the management of patients with mutations in SAMHD1

This paper is an Italian Expert Consensus Document on multidimensional treatment of obesity and eating disorders. The Document is based on a wide survey of expert opinion. It presents, in particular, considerations regarding how clinicians go about choosing the most appropriate site of treatment for a given patient suffering from obesity and/or eating disorders: outpatient, partial hospitalization, residential rehabilitation centre, inpatient hospitalization. In a majority of instances obesity and eating disorders are long-term diseases and require a multiprofessional team-approach. In determining an initial level of care or a change to a different level of care, it is essential to consider together the overall physical condition, medical complications, disabilities, psychiatric comorbidity, psychology, behaviour, family, social resources, environment, and available services. We first created a review manuscript, a skeleton algorithm and two rating scales, based on the published guidelines and the existing research literature. As the second point we highlighted a number of clinical questions that had to be addressed in the specific context of our National Health Service and available specialized care units. Then we submitted eleven progressive revisions of the Document to the experts up to the final synthesis that was approved by the group. Of course, from point to point, some of the individual experts would differ with the consensus view. The document can be viewed as an expert consultation and the clinical judgement must always be tailored to the particular needs of each clinical situation. We will continue to revise the Document periodically based on new research information and on reassessment of expert opinion to keep it up-to-date. The Document was not financially sponsored.

Lo studio considera il livello di qualità di vita in ragazze con disturbi del comportamento alimentare ed analizza le strategie di coping più frequentemente utilizzate.

The resistance of ethyl silicate-consolidated bricks to sodium sulfate crystallization cycles was evaluated. A commercial ethyl silicate (ES) based product was applied by brushing with 5 or 10 strokes to assess the effect on distribution/accumulation of the consolidant inside the pores. After long-term curing, aimed at making ES-treated samples lose their temporary hydrophobicity, samples were characterized by assessing the penetration depth of consolidants, tensile strength and modifications in open porosity and pore size distribution. Resistance to salt crystallization was evaluated by carrying out sodium sulfate crystallization cycles. The capillary suction of the salt solution was let occur through the untreated surface of cubic samples treated in the upper face, in order to investigate brick response to salts coming from behind the consolidated layer (the situation usually occurring when rising damp is present). Treatment with either 5 or 10 strokes provided protection against salt damage, and no accumulation of salt behind the consolidated layer was observed. Keywords: terracotta, ethyl silicate, rising damp, sodium sulfate, bricks

The results of a diagnostic survey on the materials of representative Art Nouveau buildings in Italy, Portugal and Poland are here presented and compared, as a contribution to their understanding and, hence, to support compatible restoration. In particular, the facade decorations were investigated for the appraisal of their materials and technologies, often neglected in current maintenance/restoration works and so cancelled, leading to a severe loss in architectural image. The ongoing diagnostic campaign, in collaboration among different universities, is aimed to set up a database on materials and technologies of Art Nouveau facade decorations at a European scale, as a technical-scientific background for the highlighting of preservation guidelines.En este trabajo se presentan los resultados de un estudio de diagnóstico sobre materiales representativos de edificios del periodo del Modernismo en Italia, Portugal y Polonia. Con la comparación de estos resultados se pretende contribuir a incrementar el conocimiento de los materiales usados en este patrimonio, que permita realizar más eficazmente las futuras intervenciones de restauración. En particular, se analizan las decoraciones de las fachadas, pasando por el reconocimiento de sus materiales constituyentes y de las tecnologías usadas, que muchas veces no son adecuadamente estudiados en intervenciones de mantenimiento y/o restauración, provocando graves pérdidas en su imagen y lenguaje arquitectónico original. Con la campaña de trabajos de diagnóstico, en colaboración con varias universidades, se pretende crear una base de datos sobre materiales y tecnologías usados en las decoraciones de fachada en el periodo del Modernismo a una escala europea. El material podrá constituirse en una herramienta técnico-científica de soporte al desarrollo de directrices y recomendaciones para la preservación de este patrimonio.

In the present work a nanolime, to be used in Cultural Heritage Conservation, is produced in order to evaluate its effectiveness on the conservation of some Italian sandstones. Lime nanoparticles are produced by a chemical precipitation process in supersaturated aqueous or alcoholic solutions of reactants. Then, they are characterised by transmission electron microscopy; hexagonal particles of dimension ranging from 50 to 600 nm are obtained. After that, the lime nanoparticles are applied on natural sandstones (Campolo and Grelio sandstones) and some tests are performed in order to estimate the consolidating effect of the treatment: “Scotch Tape Test”, “Surface abrasion test”, capillarity and imbibition tests, compressive strength and mercury intruded porosimetry.

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Subcortical band heterotopia (SBH) or double cortex syndrome is a neuronal migration disorder, which occurs very rarely in males: to date, at least 110 females but only 11 in males have been reported. The syndrome is usually associated with mutations in the doublecortin ( DCX ) (Xq22.3‐q23) gene, and much less frequently in the LIS1 (17p13.3) gene. To determine whether the phenotypic spectrum, the genetic basis and genotype–phenotype correlations of SBH in males are similar to those in females, we compared the clinical, imaging and molecular features in 30 personally evaluated males and 60 previously reported females with SBH. Based on the MRI findings, we defined the following band subtypes: partial, involving one or two cerebral lobes; intermediate, involving two lobes and a portion of a third; diffuse, with substantial involvement of three or more lobes; and pachygyria‐SBH, in which posterior SBH merges with anterior pachygyria. Karyo typing and mutation analysis of DCX and/or LIS1 were performed in 23 and 24 patients, respectively. The range of clinical phenotypes in males with SBH greatly overlapped that in females. MRI studies revealed that some anatomical subtypes of SBH, such as partial and intermediate posterior, pachygyria‐SBH and diffuse bands with posterior predominance, were more frequently or exclusively present in males. Conversely, classical diffuse SBH and diffuse bands with anterior predominance were more frequent in females. Males had either mild or the most severe band subtypes, and these correlated with the over‐representation of normal/borderline intelligence and severe mental retardation, respectively. Conversely, females who had predominantly diffuse bands exhibited mostly mild or moderate mental retardation. Seven patients (29%) had missense mutations in DCX ; in four, these were germline mutations, whereas in three there was evidence for somatic mosaicism. A germline missense mutation of LIS1 and a partial trisomy of chromosome 9p were identified in one patient (4%) each. One male each had a possible pathogenic intronic base change in both DCX and LIS1 genes. Our study shows that SBH in males is a clinically heterogeneous syndrome, mostly occurring sporadically. The clinical spectrum is similar to that of females with SBH. However, the greater cognitive and neuroradiological heterogeneity and the small number of mutations identified to date in the coding sequences of the DCX and LIS1 genes in males differ from the findings in females. This suggests other genetic mechanisms such as mutations in the non‐coding regions of the DCX or LIS1 genes, gonadal or somatic mosaicism, and finally mutations of other genes.

The efficacy and tolerability of vigabatrin (VGB) as an add-on therapy in the treatment of infantile spasm (IS) prompted physicians to explore its use as the first drug in this seizure type.