A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies. JATD is genetically heterogeneous with at least nine genes identified, all encoding ciliary proteins, hence the classification of JATD as a skeletal ciliopathy. Consistent with the observation that the heterogeneous molecular basis of JATD has not been fully determined yet, we have identified two consanguineous Saudi families segregating JATD who share a single identical ancestral homozygous haplotype among the affected members. Whole-exome sequencing revealed a single novel variant within the disease haplotype in CEP120, which encodes a core centriolar protein. Subsequent targeted sequencing of CEP120 in Saudi and European JATD cohorts identified two additional families with the same missense mutation. Combining the four families in linkage analysis confirmed a significant genome-wide linkage signal at the CEP120 locus. This missense change alters a highly conserved amino acid within CEP120 (p.Ala199Pro). In addition, we show marked reduction of cilia and abnormal number of centrioles in fibroblasts from one affected individual. Inhibition of the CEP120 ortholog in zebrafish produced pleiotropic phenotypes characteristic of cilia defects including abnormal body curvature, hydrocephalus, otolith defects and abnormal renal, head and craniofacial development. We also demonstrate that in CEP120 morphants, cilia are shortened in the neural tube and disorganized in the pronephros. These results are consistent with aberrant CEP120 being implicated in the pathogenesis of JATD and expand the role of centriolar proteins in skeletal ciliopathies.

Project d¿un edifice pour la Bibliothèque de l¿Université d¿Alexandre. Helsingfors Fasade

Helsinki 1833

Determination of the complexing capacity of synthetic and real wine for Zn using Absence of Gradients and Nerstian Equilibrium Stripping technique

The complexing capacity of synthetic (0.011 M tartrate in 13.5% ethanol) and real wine (Raimat Abadia) in titrations with added total Zn concentrations up to 0.03 M has been determined following the free Zn concentrations with AGNES (absence of gradients and Nernstian equilibrium stripping) technique. A correction to find the preconcentration factor or gain (Y1) really applied at each one of the ionic strengths reached due to Zn additions along the titration has been applied. The standard implementation of AGNES to real wine led to the observation of two anomalous behaviors: (a) an increasingly negative current in the deposition stage (labeled as “HER” effect) and (b) a minimum in the currents of the stripping stage plot (labeled as the “dip” effect). A practical strategy to apply AGNES avoiding the dip effect has been developed to quantify properly free Zn concentrations. The van den Berg–Ružic–Lee linearization method (assuming the existence of just 1:1 complexes) has been adapted to consider the dilution effect and the ionic strength changes. Aggregated stability constants and total ligand concentrations have been calculated from synthetic and wine titration data. The found complexing capacity in the studied wine (cT,L = 0.0179 ± 0.0007 M) indicates the contribution of ligands other than tartrate (which is confirmed to be the main one).

L’educador/a social com a tècnic/a d'orientació i inserció laboral, en el marc de la formació reglada. Proposta de creació d’un servei d’orientació i inserció laboral.

Anàlisi al voltant del rol de l’educador/a social com a tècnic/a d’orientació i inserció laboral en el col·lectiu de joves, i reflexió sobre com aquest pot desenvolupar aquesta ocupació en el marc de l’educació formal, en concret, en la formació professional. Aquest anàlisi i reflexió es complementa amb una proposta d’acció socioeducativa que es centra en el disseny d’un servei d’orientació i inserció laboral per a joves estudiants, ubicat en un centre de formació professional.

Neural detection of complex sound sequences in the absence of consciousness.

The neural response to a violation of sequences of identical sounds is a typical example of the brain's sensitivity to auditory regularities. Previous literature interprets this effect as a pre-attentive and unconscious processing of sensory stimuli. By contrast, a violation to auditory global regularities, i.e. based on repeating groups of sounds, is typically detectable when subjects can consciously perceive them. Here, we challenge the notion that global detection implies consciousness by testing the neural response to global violations in a group of 24 patients with post-anoxic coma (three females, age range 45-87 years), treated with mild therapeutic hypothermia and sedation. By applying a decoding analysis to electroencephalographic responses to standard versus deviant sound sequences, we found above-chance decoding performance in 10 of 24 patients (Wilcoxon signed-rank test, P < 0.001), despite five of them being mildly hypothermic, sedated and unarousable. Furthermore, consistently with previous findings based on the mismatch negativity the progression of this decoding performance was informative of patients' chances of awakening (78% predictive of awakening). Our results show for the first time that detection of global regularities at neural level exists despite a deeply unconscious state.

Disseny i desenvolupament d’un sistema tecnològic de fabricació de “stents” cardiovasculars mitjançant làser

Els stents són unes pròtesis endovasculars. L’objectiu del projecte és el disseny i desenvolupament d’un utillatge que permeti la seva fabricació per tall làser. S’utilitzarà el làser del GREP (Grup de Recerca en Enginyeria de Producte, Procés i Producció) de la Universitat de Girona, el qual està instal•lat sobre el capçal d’un centre de mecanitzat convencional

Disseny i desenvolupament d’un sistema de monitorització en continu de la qualitat de l’aigua de riu

Disseny i muntatge d’un sistema de monitorització a temps real de la qualitat fisico-química de l’aigua en rius mediterranis, que sigui autònom telegestionat i de baix manteniment. Aquest sistema permet realitzar un seguiment de la dinàmica de la qualitat de l’aigua de riu, essent possible detectar episodis d’empitjorament sobtat de la qualitat. El desenvolupament de sensors per mesurar la qualitat de l’aigua en continu ha estat una realitat en la darrera dècada, millorant-ne la robustesa i baixant-ne els costos. Cada instrument cobreix diferents aplicacions dins el cicle de l’aigua, des d’aigües superficials de riu, aigües residuals o aigües potables. Actualment la dificultat no està en la sensorística, sinó en el desenvolupament d’estacions de monitorització autònomes i de baix manteniment