Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene.

We report a Spanish family with autosomal-dominant non-neuropathic hereditary amyloidosis with a unique hepatic presentation and death from liver failure, usually by the sixth decade. The disease is caused by a previously unreported deletion/insertion mutation in exon 4 of the apolipoprotein AI (apoAI) gene encoding loss of residues 60-71 of normal mature apoAI and insertion at that position of two new residues, ValThr. Affected individuals are heterozygous for this mutation and have both normal apoAI and variant molecules bearing one extra positive charge, as predicted from the DNA sequence. The amyloid fibrils are composed exclusively of NH2-terminal fragments of the variant, ending mainly at positions corresponding to residues 83 and 92 in the mature wild-type sequence. Amyloid fibrils derived from the other three known amyloidogenic apoAI variants are also composed of similar NH2-terminal fragments. All known amyloidogenic apoAI variants carry one extra positive charge in this region, suggesting that it may be responsible for their enhanced amyloidogenicity. In addition to causing a new phenotype, this is the first deletion mutation to be described in association with hereditary amyloidosis and it significantly extends the value of the apoAI model for investigation of molecular mechanisms of amyloid fibrillogenesis.

Microquasars as high energy gamma-ray sources

Galactic microquasars are certainly one of the most recent additions to the field of high energy astrophysics and have attracted increasing interest over the last decade. However, the high energy part of the spectrum of microquasars is the most poorly known, mainly due the lack of sensitive instrumentation in the past. Microquasars are now primary targets for all of the observatories working in the X-ray and gamma-ray domains. They also appear as the possible counterparts for some of the unidentified sources of high-energy gamma-rays detected by the experiment EGRET on board the satellite COMPTON-GRO. This paper provides a general review of the main observational results obtained up to now as well as a summary of the scenarios for production of high-energy gamma-rays at the present moment.

The database industry in Catalonia: a ten year overview

Reviews growth in database production in Catalonia (ASCII, videotext, CD-ROM) over the past decade, with particular attention to the level of development, classification of producers, distribution, users and language. Examines the principal problems affecting the Catalan context: the lack of an informationand documentation policy, deficiencies in distribution of databases, the special situation in telecommunications, insufficient financial resources and the lack of specialized personnel.

Exposure of the Swiss population to computed tomography.

BACKGROUND: The frequency of CT procedures has registered a significant increase over the last decade, which led at the international level to an increasing concern on the radiological risk associated with the use of CT especially in paediatrics. This work aimed at investigating the use of computed tomography in Switzerland, following the evolution of CT frequency and dose data over a decade and comparing it to data reported in other countries. METHODS: The frequency and dose data related to CT are obtained by means of a nationwide survey. National frequencies were established by projecting the collected data, using the ratio of the number of CT units belonging to the respondents to the total number of CT units in the country. The effective doses per examination were collected during an auditing campaign. RESULTS: In 2008 about 0.8 Million CT procedures (~ 100 CT examinations / 1000 population) were performed in the country, leading to a collective effective dose of more than 6000 man.Sv (0.8 mSv/caput). In a decade the frequency of CT examinations averaged over the population and the associated average effective dose per caput increased by a factor of 2.2 and 2.9 respectively. CONCLUSIONS: Although the contribution of CT to the total medical X-rays is 6% in terms of the frequency, it represents 68% in terms of the collective effective dose. These results are comparable to those reported in a number of countries in Europe and America with similar health level.

Panoràmica dels sistemes de gestió de biblioteques al segle XXI

In the past decade, a number of trends have come together in the general sphere of computing that have profoundly affected libraries. The popularisation of the Internet, the appearance of open and interoperable systems, the improvements within graphics and multimedia, and the generalised installation of LANs are some of the events of the period. Taken together, the result has been that libraries have undergone an important functional change, representing the switch from simple information depositories to information disseminators. Integrated library management systems have not remained unaffected by this transformation and those that have not adapted to the new technological surroundings are now referred to as legacy systems. The article describes the characteristics of systems existing in today's market and outlines future trends that, according to various authors, include the disappearance of the integrated library management systems that have traditionally been sold.

Use of the FACTS solvation model for protein-ligand docking calculations. Application to EADock.

Protein-ligand docking has made important progress during the last decade and has become a powerful tool for drug development, opening the way to virtual high throughput screening and in silico structure-based ligand design. Despite the flattering picture that has been drawn, recent publications have shown that the docking problem is far from being solved, and that more developments are still needed to achieve high successful prediction rates and accuracy. Introducing an accurate description of the solvation effect upon binding is thought to be essential to achieve this goal. In particular, EADock uses the Generalized Born Molecular Volume 2 (GBMV2) solvent model, which has been shown to reproduce accurately the desolvation energies calculated by solving the Poisson equation. Here, the implementation of the Fast Analytical Continuum Treatment of Solvation (FACTS) as an implicit solvation model in small molecules docking calculations has been assessed using the EADock docking program. Our results strongly support the use of FACTS for docking. The success rates of EADock/FACTS and EADock/GBMV2 are similar, i.e. around 75% for local docking and 65% for blind docking. However, these results come at a much lower computational cost: FACTS is 10 times faster than GBMV2 in calculating the total electrostatic energy, and allows a speed up of EADock by a factor of 4. This study also supports the EADock development strategy relying on the CHARMM package for energy calculations, which enables straightforward implementation and testing of the latest developments in the field of Molecular Modeling.

Webs sempre accessibles: les biblioteques nacionals i els dipòsits digitals nacionals

Information and communication technologies enabled cultural and scientific patrimony -and information in general- to be presented in digital format, as well as in traditional analogical formats. The response was immediate and since the decade of the 1990s different projects have been designed to guarantee permanent access to the digital production -retrieval, storage, handling, preservation and dissemination. This article presents an international overview of existing models of national digital repositories, a name given to these projects that are normally generated by national libraries with a common objective: ensuring that web pages are always accessible.

Webs siempre accesibles: las bibliotecas nacionales y los depósitos digitales nacionales

Information and communication technologies enabled cultural and scientific patrimony -and information in general- to be presented in digital format, as well as in traditional analogical formats. The response was immediate and since the decade of the 1990s different projects have been designed to guarantee permanent access to the digital production -retrieval, storage, handling, preservation and dissemination. This article presents an international overview of existing models of national digital repositories, a name given to these projects that are normally generated by national libraries with a common objective: ensuring that web pages are always accessible.

Differences in diet between the two largest breeding colonies of Audouin's gulls: the effects of fishery activities

We analysed and compared the diet of Audouin´s gulls Larus audouinii between their two largest breeding sites in the world: the Ebro Delta and the Chafarinas Islands (western Mediterranean). These two localities showed marked differences in the features of the commercial fishing fleet: in the Ebro Delta area a large fishing fleet produced large amounts of discards, while in the Chafarinas the fleet discarded smaller amounts of fish and marine invertebrates, due to the smaller number of vessels. It is also likely that the percentage of discards from total catches is also lower around the Chafarinas than at the Ebro Delta. We distinguished two types of fishing to compare diet compositions: diurnal (only trawling activity) and diurnal and nocturnal (trawling and purse-seine activity, respectively). We also differentiated regurgitates from young nestlings (up to 20 days old) and from older nestlings or adult birds. At the two localities, fish was the main food of Audouin´s gulls, with epipelagic prey (mainly clupeoids) being more important when both diurnal and nocturnal fisheries were operating. This confirms that epipelagic prey either caught actively by the gulls or linked to fisheries was particularly important in the feeding habits of Audouin´s gulls. Nevertheless, differences between the two colonies appear mainly when only trawlers operated: while at the Ebro Delta gulls showed higher consumption of benthic-mesopelagic prey (probably linked to a higher trawler discard availability), gulls from the Chafarinas Islands consumed higher biomass of epipelagic prey probably caught actively at night. When both fleets operated around the two colonies, the average biomass of prey in a regurgitate of younger chicks was significantly higher at the Ebro Delta than at Chafarinas, and the opposite trend was recorded for older nestlings and adults. Niche width was broader in Chafarinas than in the Ebro Delta for both age classes and for any fishing fleet schedule, suggesting again that the exploitation of discards was higher at the Ebro Delta than at the Chafarinas, where gulls showed a more varied diet. Despite the fact that availability of discards was probably higher at the Ebro Delta than at Chafarinas, the per capita availability was not so different at both localities due to the increasing seabird community population at the Ebro Delta, which ca. doubled that at Chafarinas in the last decade.

AUTOIMMUNE PANCREATITIS

Autoimmune Pancreatitis (AIP) is a new nosological entity that was first reported by Sarles et al. in 1961 and then named by Yoshida et al. in 1995 in Japan. It was then ignored by many Western researchers and now, in the last decade; it appears to have been recognized worldwide. AIP is a distinct form a chronic pancreatitis with an immune mediated fibroinflammatory process that has unique histopathologic features that makes it distinguishable from other forms of pancreatitis. Moreover, AIP is the only type of pancreatitis that responds to steroid administration. The Honolulu consensus document that has recently been published by Chari et al. described the histopathologic and clinical subtypes of AIP. Indeed, it appears that there are two forms of AIP, with different prevalence in Europe and Asia and distinct clinical profiles. The first subtype, the most common type in Asia, has recently been named Lymphoplasmocytic sclerosing pancreatitis (LPSP) or type I AIP because of its histological features and its association with elevated IgG serum levels and various autoantibodies. The second one is called idiopathic duct centric pancreatitis, IDCP, or type II AIP, that barely exists in Japan, but more accounted in Caucasian people. IDCP is recognized by its particular histology that is a granulocytic epithelial lesion (GEL) which makes some people call it AIP with GEL. Still nowadays, the diagnosis of AIP is a challenge. AIP can only be definitively diagnosed by histological examination. The main differential diagnosis of AIP is, except chronic pancreatitis, pancreatic cancer. That explains why there are still some unnecessary resections. Several groups have proposed diagnostic criteria for AIP as in Japan, Korea, Germany, Italy and the United States. Thus, it is important to find an international consensus. Above all, it is important to find new criteria as specific markers in the serum and the pancreatic tissues, for example using proteomics, to be able to diagnosis both types of AIP, and distinguish AIP from pancreatic cancer in order to avoid surgical resection in patients with AIP. The aim of this project is to review all relevant studies about AIP and to document all the available diagnostic tools.

Bacterial contamination of platelet concentrates: pathogen detection and inactivation methods

Whereas the reduction of transfusion related viral transmission has been a priority during the last decade, bacterial infection transmitted by transfusion still remains associated to a high morbidity and mortality, and constitutes the most frequent infectious risk of transfusion. This problem especially concerns platelet concentrates because of their favorable bacterial growth conditions. This review gives an overview of platelet transfusion-related bacterial contamination as well as on the different strategies to reduce this problem by using either bacterial detection or inactivation methods.

Capital humano local y productividad en las provincias españolas

En la última década, distintos estudios han intentado contrastar empíricamente la existencia de una relación entre el stock de capital humanolocal y la productividad del territorio, así como la posible presencia de economías externas asociadas a aquél. El resultado común de dichos estudios ha consistido en encontrar una correlación positiva entre ambas variables Losdiversos autores no coinciden, en cambio, a la hora de explicar dicho resultado: un primer grupo de autores argumenta la presencia de economíasexternas vinculadas al capital humano mientras que un segundo grupo plantea la existencia de relaciones de complementariedad entre los diversos factores productivos y, más en concreto, entre el capital humano y el capital físico.El objetivo de este trabajo es analizar la existencia de una posible relación positiva entre el nivel de capital humano de las provincias españolas y su productividad de éstas y, a continuación, averiguar si el canal a través delcual se produce el efecto son las economías externas. Para ello, se aplica unametodología que consta de dos etapas. En la primera, se estima una ecuación de Mincer utilizando información de la Encuesta de Presupuestos Familiares a fin de obtener una estimación de la productividad media de cada una de las provincias españolas una vez controlado el efecto del capital humano de los individuos sobre su propia productividad. En una segunda etapa, la estimación de la productividad provincial media estimada se introduce como variable endógena en una nueva ecuación cuyas variables explicativas intentan aproximar el nivel de capital humano de cada una de las provincias. A partir de esta segunda regresión se detecta una relación positiva entre la productividad media estimada del territorio y el nivel educativo medio delmismo. Sin embargo, la principal conclusión del análisis realizado es que dicha relación no puede explicarse por el impacto de las economías externas generadas exógenamente por el capital humano, sino que debe atribuirse a otros efectos que, actuando también por lado de la demanda, impulsen al alza la productividad.

Ocular gene therapy: a review of nonviral strategies.

Along with viral vectors, non-viral strategies have been developed in order to efficiently deliver nucleic acids to ocular cells. During the last decade, we have observed that the outcome of these non-viral delivery systems depends on the genetic material used, the targeted tissue or cells, the expected effect duration, and the routes of administration. Assessment of efficiency has been evaluated in normal eyes or in animal models of ocular diseases. The chemical and physical methods that have been adapted for the delivery of nucleic acids to ocular tissues are highlighted and discussed in this review. Also, the results obtained with different non-viral strategies from their initial conception to their present development are summarized. At the present, selective targeting of ocular tissues and cells can be achieved using the most yielding route of administration to the eye in combination with an appropriate drug delivery technique.

Authors', Institutions' and Countries' rankings in regional and urban science : an analysis for nine top international journals from 1991 to 2000

This paper examines the most productive authors, institutions and countries in regional and urban science from 1991 to 2000 using information on published articles (and pages) from a sample of widely recognized journals in this field: ARS, JUE, JRS, IJURR, IRSR, PRS, RSUE, RS and US. We also consider the relation between the country of the institution named in articles and the country in which the journal is published, in order to know if there are a home publication bias in regional and urban science. Analysis was made for the whole decade and by subperiods, this allowed us to make a more dynamic interpretation of the results

Follow-up of optic pathway gliomas in children with neurofibromatosis type 1.

Optic pathway gliomas (OPG) are found in about 15% of patients with neurofibromatosis Type 1 (NF-1). The natural history of OPG is not yet well documented. Treatment in cases with growing tumors is still controversial. Twenty-one patients with NF-1 and OPG, diagnosed over a 20-year period, and followed neuroradiologically and ophthalmologically for at least two years, were reevaluated. The diagnosis of OPG was made at a mean age of 7.1 years (range 0-14.5 years); six children were asymptomatic, 15 were symptomatic. The mean follow-up was 9.0 years (2.0-18.5 (years). In eight initially operated or biopsied patients (three optic nerve and five chiasmal gliomas) tumor regrowth was found in one patient without progression on subsequent follow-up. Improvement of visual acuity occurred in one child after operation of a large suprasellar tumor and deterioration in one patient after biopsy of a chiasmal glioma. The neuroradiological follow-up of the 13 not-operated and not-radiated patients (four optic nerve and nine chiasmal gliomas) was stable in 10, progressive in three, resulting in visual loss in one patient. In 11 children (52%) a second tumor outside the optic pathway was found at a mean age of 4.0 years after the diagnosis of an OPG. Until now they are mostly asymptomatic. Second site tumors were operated in two children because of rapid tumor growth, one child died of a brainstem tumor. OPG are a frequent complication in children with NF-1, appearing within the first decade.(ABSTRACT TRUNCATED AT 250 WORDS)