Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

We have identified C7orf11, which localizes to the nucleus and is expressed in fetal hair follicles, as the first disease gene for nonphotosensitive trichothiodystrophy (TTD). C7orf11 maps to chromosome 7p14, and the disease locus has been designated "TTDN1" (TTD nonphotosensitive 1). Mutations were found in patients with Amish brittle-hair syndrome and in other nonphotosensititive TTD cases with mental retardation and decreased fertility but not in patients with Sabinas syndrome or Pollitt syndrome. Therefore, genetic heterogeneity in nonphotosensitive TTD is a feature similar to that observed in photosensitive TTD, which is caused by mutations in transcription factor II H (TFIIH) subunit genes. Comparative immunofluorescence analysis, however, suggests that C7orf11 does not influence TFIIH directly. Given the absence of cutaneous photosensitivity in the patients with C7orf11 mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair.

A novel device for reducing hemolysis provoked by cardiotomy suction during open heart cardiopulmonary bypass surgery: a randomized prospective study.

Since the inception of cardiopulmonary bypass (CPB), little progress has been made concerning the design of cardiotomy suction (CS). Because this is a major source of hemolysis, we decided to test a novel device (Smartsuction [SS]) specifically aimed at minimizing hemolysis during CPB in a clinical setting. Block randomization was carried out on a treated group (SS, n=28) and a control group (CTRL, n=26). Biochemical parameters were taken pre-, peri-, and post CPB and were compared between the two groups using the Student's t-test with statistical significance when P<0.05. No significant differences in patient demographics were observed between the two groups. Lactate dehydrogenase (LDH) and plasma free hemoglobin (PFH) pre-CPB were comparable for the CTRL and SS groups, respectively. LDH peri-CPB was 275+/-100 U/L versus 207+/-83 U/L for the CTRL and SS groups, respectively (P<0.05). PFH was 486+/-204 mg/L versus 351+/-176 mg/L for the CTRL and SS groups, respectively (P<0.05). LDH post CPB was 354+/-116 U/L versus 275+/-89 U/L for the CTRL and SS groups, respectively (P<0.05). PFH was 549+/-271 mg/L versus 460+/-254 mg/L for the CTRL and SS groups, respectively (P<0.05). Preoperative hematocrit (Hct) of 43+/-5% (CTRL) versus 37+/-5% (SS), and hemoglobin (Hb) of 141+/-16 g/L (CTRL) versus 122+/-17 g/L (SS) were significantly lower in the SS group. However, when normalized (N), the SS was capable of conserving Hct, Hb, and erythrocyte count perioperatively. Erythrocytes (N) were 59+/-5% (CTRL) versus 67+/-9% (SS); Hct (N) was 59+/-6% (CTRL) versus 68+/-9% (SS), and Hb (N) was 61+/-6% (CTRL) versus 70+/-10% (SS) (all P<0.05). This novel SS device evokes significantly lowered blood PFH and LDH values peri- and post CPB compared with the CTRL blood using a CS system. The SS may be a valuable alternative compared to traditional CS techniques.

How much does a single graduation cohort from further education colleges contribute to an open regional economy?

Econometric analysis has been inconclusive in determining the contribution that increased skills have on macroeconomic performance whilst conventional growth accounting approaches to the same problem rest on restrictive assumptions. We propose an alternative micro-to-macro method which combines elements of growth accounting and numerical general equilibrium modelling. The usefulness of this approach for applied education policy analysis is demonstrated by evaluating the macroeconomic impact on the Scottish economy of a single graduation cohort from further education colleges. We find the macroeconomic impact to be significant. From a policy point of view this supports a revival of interest in the conventional teaching role of education institutions.

An investigation of the determinants of household demand for bushmeat in the Serengeti using an open-ended choice experiment

Illegal hunting for bushmeat is regarded as an important cause of biodiversity decline in Africa. We use a stated preferences method to obtain information on determinants of demand for bushmeat in villages around the Serengeti National Park, Tanzania. We estimate the effects of changes in the own price of bushmeat and in the prices of two substitute protein sources – fish and chicken. Promoting the availability of protein substitutes at lower prices would be effective at reducing pressures on wildlife. Supply-side measures that raise the price of bushmeat would also be effective.

The Monetary policy rules and the inflation process in open emerging

This paper has three objectives. First, it aims at revealing the logic of interest rate setting pursued by monetary authorities of 12 new EU members. Using estimation of an augmented Taylor rule, we find that this setting was not always consistent with the official monetary policy. Second, we seek to shed light on the inflation process of these countries. To this end, we carry out an estimation of an open economy Philips curve (PC). Our main finding is that inflation rates were not only driven by backward persistency but also held a forward-looking component. Finally, we assess the viability of existing monetary arrangements for price stability. The analysis of the conditional inflation variance obtained from GARCH estimation of PC is used for this purpose. We conclude that inflation targeting is preferable to an exchange rate peg because it allowed decreasing the inflation rate and anchored its volatility.

Continuity of set-valued maps revisited in the light of tame geometry

Continuity of set-valued maps is hereby revisited: after recalling some basic concepts of variational analysis and a short description of the State-of-the-Art, we obtain as by-product two Sard type results concerning local minima of scalar and vector valued functions. Our main result though, is inscribed in the framework of tame geometry, stating that a closed-valued semialgebraic set-valued map is almost everywhere continuous (in both topological and measure-theoretic sense). The result –depending on stratification techniques– holds true in a more general setting of o-minimal (or tame) set-valued maps. Some applications are briefly discussed at the end.

Quasiconformal maps, analytic capacity, and non linear potentials

"Vegeu el resum a l'inici del document del fitxer adjunt."

Sistema de monitorització Open Source: projecte d'empresa per Computer Technology Catalunya

L’objectiu del projecte consisteix en l’estudi, simulació i implantació d’un conjunt d’aplicacions que permeten tenir un control sobre possibles problemes que puguin succeir a la nostra xarxa. Aquest projecte és la solució als problemes de detecció d’errors en el funcionament de les infraestructures de networking de les que disposen els nostres clients.

Aplicación con Google Maps

El principal objetivo de este proyecto es realizar un aplicativo web que utilice API’s para que, a partir de un conjunto de rutas almacenadas en el sistema, éste sea capaz de generar nuevas rutas a partir de éstas, de modo que dicho sistema no se comporte como un mero "almacén" de rutas introducidas por los usuarios para poder ser utilizadas por los demás posteriormente, sino que podamos ser nosotros mismos los que decidamos ciertos aspectos de la ruta que deseamos que el sistema nos proporcione. Así, el aplicativo desarrollado, partiendo de un conjunto previo de rutas, será capaz de generar nuevas rutas pasando lo más cerca posible de un conjunto de puntos definidos por el usuario, pudiendo ser calculadas siguiendo diferentes parámetros de optimización tales como el menor número de rutas utilizadas en el cálculo o el menor número de intersecciones entre ellas. Estas rutas, posteriormente, pueden visualizarse en la aplicación mediante el API de Google Maps, o pueden ser descargadas para utilizarlas en nuestro dispositivo GPS portátil.

Open source framework for trucks fleet control (client)

Aquest projecte desenvolupa la part client d'una aplicació per controlar una flota de camions. Està implementada per funcionar sobre un dispositiu mòbil que funcioni amb el sistema operatiu Android.

Gestió Documental Open Source per Agresso CRM

Estudi i integració d'una aplicació Open Source especialitzada en la gestió documental amb Agresso CRM. L'objectiu d'aquesta aplicació és oferir nova funcionalitat a la gestió documental inicial i augmentar-ne les seves capacitats. Per tal de dur-lo a terme s’ha fet una recerca i un estudi d'aplicacions Open Source especialitzades en la gestió documental. Entre les aplicacions estudiades s'ha escollit KnowledgeTree pel desenvolupament de la integració, ja que era la que responia d’una manera més satisfactòria als requisits.

Creació automàtica de gràfics estadístics a partir de dades de soroll d’Europa amb tecnologies Open Source en el visor Noise Map Viewer de l’ETC-LUSI

El projecte ha consistit en la creació de gràfics estadístics de soroll d’Europa de forma automàtica amb tecnologies Open Source dins el visor Noise Map Viewer per Europa de l’ETC-LUSI. La llibreria utilitzada per fer aquest procés ha estat JFreeChart i el llenguatge de programació utilitzat ha estat Java (programació orientada a objectes) dins l’entorn de desenvolupament integrat Eclipse. La base de dades utilitzada ha estat PostgreSQL. Com a servidors s’han fet servir Apache (servidor HTTP) i Tomcat (servidor contenidor d’aplicacions). Un cop acabat el procés s’ha integrat dins de MapFish canviant el codi JavaScript corresponent de la web original.