Search

Objective: To evaluate the family history of epilepsy in first degree relatives of probands with epilepsy. Methods: A sample of 10787 patients with epilepsy with complete information about first degree relatives (parents, siblings and offspring) was selected from the database of the Episcreen Project, the largest Italian observational study on epilepsy. Family history was assessed by: (1) prevalence estimates of epilepsy among proband's relatives, (2) modified cumulative risks (MCR), adjusted using proband's age as censoring time in life tables, (3) standardised morbidity ratios (SMR), using a sub-group of symptomatic epilepsies as control group. Results: Patients (9.1%) had a family history of epilepsy. The overall prevalence of epilepsy among first degree relatives was 2.6%. Idiopathic generalised epilepsies had the highest prevalence (5.3%). Cryptogenetic epilepsies had a lower prevalence (2.1%) than idiopathic epilepsies, but higher then symptomatic epilepsies (1.5%), both in generalised and focal forms (3.8% vs. 2.0% and 1.8% vs. 1.3%). A similar tendency was detected using MCR and SMR, with the higher values of risks/ratios for idiopathic and generalised epilepsies. Probands with idiopathic generalised epilepsies were highly concordant with respect to their relatives' type of epilepsy. Considering other strata factors, risks were higher in proband's epilepsies with an onset less then 14 years of age, while sex played no definite role in differentiating the family history. Conclusions: The Episcreen model permits a variety of stratification factors to measure family risk, including age at onset, epilepsy localisation and aetiology with a large sample of more than 10000 probands and 1065/40544 relatives affected and classified.

The Fermilab Main Injector was designed to accelerate protons and antiprotons from a momentum of 8.889 GeV/c to 150 GeV/c. In order to study antiproton deceleration, for the ultimate purpose of storing them in a Penning trap, the Main Injector was used to decelerate protons from the injection momentum down to the goal of 2.0 GeV/c. In this paper the operational experience of working with the Main Injector as a decelerator is presented. (1 refs).

Aim of the present work was to deepen the knowledge on the effects of funori on cellulose fibers with particular attention paid to their consolidation. Compared to canvas, paper samples (untreated or artificially aged) show different fiber packaging and liquid-absorbing properties. Herein, we conducted observations of cellulose fibers by scanning electron microscopy (SEM) in order to evaluate the seaweed extraction method employed in this work, as well the consolidation action had on the fibers through multiple additions of the prepared solutions. Surface homogeneity and fiber stiffness observed by us increased over time and the fibers, initially frayed and disordered, were eventually incorporated into the purified funori after several solution additions accompanied also by a progressive occlusion of the pores. The achieved consolidation effect was confirmed by means of mechanical tests. Moreover, the method herein developed was slightly modified in view of the application of the funori solution to a cultural asset of historical and botanical interest, still scarcely studied. Electronic microscopy allowed us to evaluate the consolidation and gluing effect obtained through subsequent funori applications.

Since ancient times, the Calabrian territories were affected continuously and in different dominations: first Magna Greece civilisation and after the Roman domination. The latter influenced strongly some areas of the Calabrian territory, where we witnessed a gradual replacement of small farmer properties with plants of the first Roman villas. An example of Roman thermal plant was in the city of Curinga (CZ), where in 1966 were found the remains of a thermal building dating to late-Roman period, probably a part of a much more complex structure identifiable as a large Roman villa. In this context are exposed the results of a first scientific aim to study the thermal complex of Curinga, with the development of a specific diagnosis protocol and its next application to the artefact itself, to get a general but exhaustive survey of its conditions, its conservation and degradation state, essential for the execution of future maintenance projects.

To achieve adequate restoration project, the moment of choice of the type of intervention is a very delicate phase that necessarily involves a thorough understanding of the asset in all its aspects, as the location, the history, the architecture, the state of preservation, the pathologies causing the degradation, the degradation in itself, the analysis of constituent materials. The set of all that can be investigated on a product (cultural), to obtaining important information for subsequent maintenance, conservation and/or restoration actions, is what is called a diagnostic plan. In this case it was applied directly on a monument of national importance: the Royal Villa in Naples (today the Municipal Villa). The analysis were performed in situ and in the laboratory (SEM-EDS) on samples taken directly at the Villa, which allowed the creation of a series of analytical cards, containing digital data, required for the selection of expense future of intervention.

The electro-generation of H 2 O 2 and the abatement of the model organic pollutant Acid Orange 7 (AO7) in water by an electro-Fenton process were performed under moderate air pressures (up to 11 bar) for the first time to our knowledge. An increase of the pressure gave rise to a drastic enhancement of the concentration of hydrogen peroxide. In systems pressurized with air at 11 bar, the electro reduction of oxygen at a graphite cathode gave rise to a concentration of H 2 O 2 of about 12 mM, about one order of magnitude higher than that achieved at atmospheric pressure. This result is attributed to the mass transfer intensification induced by the higher local concentration of molecular oxygen dissolved in the aqueous phase. Similarly, for electro-Fenton, a drastic increase of the TOC abatement was achieved upon increasing the air pressure. The effect of the current was also investigated in detail.

We report on the expression pattern of a novel EGF- containing gene named Maeg. RNA in situ studies indicate that Maeg is first activated during specification of the early lateral dermatome, and continues to be expressed in all the dermatome derivatives as the dermis of the trunk, the hair follicles, and the mesenchyme of the cranio-facial region.

The members of the T-box gene family share a highly conserved DNA binding domain named the T-domain, and important developmental functions. Here we report the cloning of chicken Tbr1and of murine and chickenTbr2 (orthologs of the Xenopus eomesodermin gene), the mapping of the murine Tbr2 to chromosome 9, and their pattern of expression during mouse and chick embryogenesis. Both Tbr 1 and 2 have a restricted and conserved domain of expression in the telencephalic pallium of the two species. Chick Tbr2 has a specific and dynamic expression in the gastrulating embryo.

We have isolated a family of four vertebrate genes homologous to eyes absent (eya), a key regulator of ocular development in Drosophila. Here we present the detailed characterization of the EYA4 gene in human and mouse. EYA4 encodes a 640 amino acid protein containing a highly conserved C-terminal domain of 271 amino acids which in Drosophila eya is known to mediate developmentally important protein-protein interactions. Human EYA4 maps to 6q23 and mouse Eya4 maps to the predicted homology region near the centromere of chromosome 10. In the developing mouse embryo, Eya4 is expressed primarily in the craniofacial mesenchyme, the dermamyotome and the limb. On the basis of map position and expression pattern, EYA4 is a candidate for oculo-dento-digital (ODD) syndrome, but no EYA4 mutations were found in a panel of ODD patients.

Using a bioinformatic approach, we have identified a new transcript, SLC7A8, mapping to 14q11.2, within the lysinuric protein intolerance (LPI) critical region. This gene is highly expressed in skeletal muscle, intestine, kidney, and placenta and encodes a predicted protein of 535 amino acids, homologous to the amino acid permease CD98 light chain and cationic amino acid transporters. RNA in situ hybridization data on mouse embryos confirm the expression in kidney and intestine and, interestingly, reveal that SLC7A8 is also highly expressed in eye, in retinal pigmented epithelium, and in tooth buds at day 16.5 of gestation. Mutational analysis excluded any direct involvement of the SLC7A8 gene product in LPI disease. The homology data and the expression pattern are in agreement with the hypothesis that SLC7A8 represents a novel light chain interacting with the 4F2 heavy chain in the multimeric complex mediating neutral and/or cationic amino acid transport and cystine/glutamate exchange.

The general strategies of phototransduction in vertebrates and invertebrates share many similarities, but differ significantly in their underlying molecular machinery. The CDS gene encodes the CDP-diacylglycerol synthase (CDS) enzyme and is required for phototransduction in Drosophila. Using a bioinformatic approach, we have identified two novel transcripts (CDS1 and CDS2) highly homologous to the Drosophila CDS gene. We isolated and sequenced the CDS2 full-length cDNA and mapped the two genes to human chromosomes 20p13 (CDS2) and 4q21.1 (CDS1). Sequence analysis revealed that both genes are highly homologous to the Drosophila protein (64.4 and 58. 6% identity at the protein level between CDS and CDS2 and between CDS and CDS1, respectively). The mouse homologs for both genes were isolated and used in RNA in situ hybridization studies on adult and embryonic mouse tissue sections. These studies showed that Cds2 is highly expressed in the differentiating neuroblasts of the neural retina and in the central nervous system during embryonic development, while it was not detected in adult retina. Cds1, on the other hand, shows a high level of expression in the photoreceptor layer of adult retina, which strongly suggests a role for Cds1 in phototransduction. Knowledge of the expression pattern of these genes in mammals may shed light on the evolution of vision mechanisms and help in the evaluation of candidate genes for human retinopathies.

Nature often utilizes the same metabolic 'core groups' of interacting genes or 'pathways' in completely different organs, tissues and cellular compartments. Deciphering the physiological role of a particular gene in a living organism is therefore critical to understanding not only how a gene/protein works, but also where (in which tissue/organ) and when (at what developmental stage) it functions. We have performed systematic RNA in situ hybridization on a subset of murine genes homologous to Drosophila mutant genes, called Drosophila -related expressed sequences (Dres). This approach combines functional information derived from cross-species sequence comparisons and biochemical, physiological and pathological studies performed in the fly with knowledge of the spatial and temporal distribution of gene expression. Forty murine Dres were tested by RNA in situ hybridization on sagittal, coronal and transverse sections at three developmental stages, E10.5, E12.5 and E17.5. For some of them, whole mount in situ hybridization was performed at earlier stages. These data are valuable for establishing how the function of these genes and the genetic programs underlying the development of a particular tissue or organ have evolved during evolution. For example, six Dres genes showed restricted expression domains within the murine retina, suggesting a different role for each of these genes in eye development and functioning. Furthermore, the information derived from this combined approach will be instrumental in predicting the phenotypic consequences of gene dysfunction in both mouse mutants and human genetic diseases.