Anàlisi dels registres del Dipòsit Digital d’Activitats Docents de la Universitat de Vic

El Centre d'Innovació i Formació en Educació (CIFE) de la Universitat de Vic (UVic) promou la creació, a l'inici del curs 2010-2011, de dos grups d’Innovació. Un d’ells és el grup CIFE-GI “Incorporació de les TIC a la docència”, que està treballant en l’estudi i la utilització d’eines digitals en la docència, que integrin els vessants tecnològic, didàctic, metodològic i formatiu. Durant el curs 2010-2011, el grup ha treballat en la creació d’un Dipòsit Digital d’Activitats Docents (DDAD) amb la intenció que sigui un espai d’intercanvi entre els professors, i de transferència de les experiències portades a terme a les aules amb el suport de les TIC. Aquesta comunicació mostra els resultats de l’anàlisi de les dades registrades en el DDAD fins al juny del 2011, amb l’objectiu d’identificar la tipologia d’aquestes activitats

Fretting corrosion of hafnium in simulated body fluids.

Hafnium has been suggested as an interesting material for biomedical applications due to its good biocompatibility and osteogenesis. However, its behaviour under fretting corrosion conditions, found in applications such as dental and joint implants, has not been studied in depth. A three-electrode electrochemical cell integrated with a ball-on-flat reciprocating tribometer was used to investigate the corrosion of hafnium and commercially pure (CP) titanium in simulated body fluids. An increased susceptibility to pitting corrosion was observed when hafnium was subjected to fretting. Open circuit potential measurements showed a more severe mechanical depassivation due to fretting in the case of CP titanium in comparison to hafnium. In addition, the anodic currents measured during potentiostatic tests were also higher for CP titanium

Osmotic dehydration of organic kiwifruit pre-treated by pulsed electric fields: Internal transport and transformations analyzed by NMR

[EN] This work analyzes the effect of Pulsed Electric Fields (PEF) as a pre-treatment of the osmotic dehydration (OD) of kiwifruit (Actinidia deliciosa cv Hayward) in the internal structure and in the internal water transport. PEF pre-treatments were done using three PEF intensities (100, 250 and 400 V/cm) and analyzed by TD-NMR. The OD was carried out by immersing the samples in 61.5% sucrose solution at 25 °C. The application of a PEF pre-treatment before the OD produces a process of plasmolysis proportional to the electric field applied. It is because the PEF removes the mobile charges of the medium, such as electrolytes, organic acids, amino acids; Ca+2 is the major culprit of the plasmolysis because it fixes some of the junctions of the microtubules between the cell wall and the membrane. Therefore, a previous plasmolysis produces an increase in the apoplastic transport increasing the rate of dehydration.The authors Urszula Tylewicz and Marco Dalla Rosa want to thank for the financial support provided by funding bodies within the FP7 ERA-Net CORE Organic Plus, and with cofounds from the European Commission. The author Maria Victoria Traffano Schiffo wants to thank the FPI Predoctoral Program of the Universidad Politecnica de Valencia for support her PhD studies, ERASMUS PRACTICAS program to finance her mobility to Italy. The authors Pedro J. Fito, Marta Castro-Giraldez and M. Victoria Traffano-Schiffo acknowledge the financial support from the Spanish Ministerio de Economia, Industria y Competitividad, Programa Estatal de I + D + i orientada a los Retos de la Sociedad AGL2016-80643-R, Agencia Estatal de Investigacion (AEI) and Fondo Europeo de Desarrollo Regional (FEDER).Traffano-Schiffo, MV.; Laghi, L.; Castro Giráldez, M.; Tylewicz, U.; Romani, S.; Ragni, L.; Dalla Rosa, M.... (2017). Osmotic dehydration of organic kiwifruit pre-treated by pulsed electric fields: Internal transport and transformations analyzed by NMR. Innovative Food Science & Emerging Technologies. 41:259-266. https://doi.org/10.1016/j.ifset.2017.03.012S2592664

Paracrine cellular senescence exacerbates biliary injury and impairs regeneration

Senescence has been suggested as causing biliary cholangiopathies but how this is regulated is unclear. Here, the authors generate a mouse model of biliary senescence by deleting Mdm2 in bile ducts and show that inhibiting TGFβ limits senescence-dependent aggravation of cholangiopathies

Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications

BACKGROUND: The 22q11.2 deletion syndrome is the most frequent genomic disorder with an estimated frequency of 1/4000 live births. The majority of patients (90%) have the same deletion of 3 Mb (Typically Deleted Region, TDR) that results from aberrant recombination at meiosis between region specific low-copy repeats (LCRs). METHODS: As a first step towards the characterization of recombination rates and breakpoints within the 22q11.2 region we have constructed a high resolution recombination breakpoint map based on pedigree analysis and a population-based historical recombination map based on LD analysis. RESULTS: Our pedigree map allows the location of recombination breakpoints with a high resolution (potential recombination hotspots), and this approach has led to the identification of 5 breakpoint segments of 50 kb or less (8.6 kb the smallest), that coincide with historical hotspots. It has been suggested that aberrant recombination leading to deletion (and duplication) is caused by low rates of Allelic Homologous Recombination (AHR) within the affected region. However, recombination rate estimates for 22q11.2 region show that neither average recombination rates in the 22q11.2 region or within LCR22-2 (the LCR implicated in most deletions and duplications), are significantly below chromosome 22 averages. Furthermore, LCR22-2, the repeat most frequently implicated in rearrangements, is also the LCR22 with the highest levels of AHR. In addition, we find recombination events in the 22q11.2 region to cluster within families. Within this context, the same chromosome recombines twice in one family; first by AHR and in the next generation by NAHR resulting in an individual affected with the del22q11.2 syndrome. CONCLUSION: We show in the context of a first high resolution pedigree map of the 22q11.2 region that NAHR within LCR22 leading to duplications and deletions cannot be explained exclusively under a hypothesis of low AHR rates. In addition, we find that AHR recombination events cluster within families. If normal and aberrant recombination are mechanistically related, the fact that LCR22s undergo frequent AHR and that we find familial differences in recombination rates within the 22q11.2 region would have obvious health-related implications

Overt Cleft Palate Phenotype and TBX1 Genotype Correlations in Velo-cardio-facial/DiGeorge/22q11.2 Deletion Syndrome Patients

Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000 – 1/4,000 live births. Approximately 9–11% of patients with this disorder have an overt cleft palate (CP), but the genetic factors responsible for CP in the 22q11DS subset are unknown. The TBX1 gene, a member of the T-box transcription factor gene family, lies within the 22q11.2 region that is hemizygous in patients with 22q11DS. Inactivation of one allele of Tbx1 in the mouse does not result in CP, but inactivation of both alleles does. Based on these data, we hypothesized that DNA variants in the remaining allele of TBX1 may confer risk to CP in patients with 22q11DS. To test the hypothesis, we evaluated TBX1 exon sequencing (n = 360) and genotyping data (n = 737) with respect to presence (n = 54) or absence (n = 683) of CP in patients with 22q11DS. Two upstream SNPs (rs4819835 and rs5748410) showed individual evidence for association but they were not significant after correction for multiple testing. Associations were not identified between DNA variants and haplotypes in 22q11DS patients with CP. Overall, this study indicates that common DNA variants in TBX1 may be nominally causative for CP in patients with 22q11DS. This raises the possibility that genes elsewhere on the remaining allele of 22q11.2 or in the genome could be relevant

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

<p>Abstract</p> <p>Background</p> <p>Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date.</p> <p>Methods</p> <p>We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents.</p> <p>Results</p> <p>Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial <it>de novo </it>1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping.</p> <p>Conclusion</p> <p>The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.</p

Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mostly of the conotruncal type (CTD), whereas others have normal cardiac anatomy. In this study, we tested whether variants in the hemizygous LCR22A-D region are associated with risk for CTDs on the basis of the sequence of the 22q11.2 region from 1,053 22q11.2DS individuals. We found a significant association (FDR p &lt; 0.05) of the CTD subset with 62 common variants in a single linkage disequilibrium (LD) block in a 350 kb interval harboring CRKL. A total of 45 of the 62 variants were associated with increased risk for CTDs (odds ratio [OR) ranges: 1.64-4.75). Associations of four variants were replicated in a meta-analysis of three genome-wide association studies of CTDs in affected individuals without 22q11.2DS. One of the replicated variants, rs178252, is located in an open chromatin region and resides in the double-elite enhancer, GH22J020947, that is predicted to regulate CRKL (CRK-like proto-oncogene, cytoplasmic adaptor) expression. Approximately 23% of patients with nested LCR22C-D deletions have CTDs, and inactivation of Crkl in mice causes CTDs, thus implicating this gene as a modifier. Rs178252 and rs6004160 are expression quantitative trait loci (eQTLs) of CRKL. Furthermore, set-based tests identified an enhancer that is predicted to target CRKL and is significantly associated with CTD risk (GH22J020946, sequence kernal association test (SKAT) p = 7.21&nbsp;× 10-5) in the 22q11.2DS cohort. These findings suggest that variance in CTD penetrance in the 22q11.2DS population can be explained in part by variants affecting CRKL expression