Molecular characterization of genes involved in chicken MHC class I antigen presentation pathway

Tapasin, TAP1 and TAP2 are involved in the assembly of MHC class I molecules. The genes encoding these three products belong to the Major Histocompatibility Complex: in chicken, Tapasin is located between the two class IIb genes, while TAP1 and TAP2 are found between the two class I genes. The current study aimed at the molecular characterization of these three genes. Starting from Single Nucleotide Polymorphisms (11 in Tapasin, 18 in TAP1 and 21 in TAP2) previously discovered by the authors within these genes, the nucleotide diversity was assessed at each locus. Moreover, the haplotypes were reconstructed for each individual and the genetic distances between the chicken lines and breeds were estimated. From the analysis of the nucleotide diversity values, variable polymorphism rates could be observed among the three genes. In the three analyzed loci the SNPs rates were higher than the reported chicken genome mean nucleotide diversity of 5 SNPs kb-1. The calculation of the genetic distances permitted, generally, the distinction of animals among the analyzed lines/breeds

Microarray analyses to identify differentially expressed genes for assessing meat quality in swine

In order to identify candidate genes and molecular mechanisms that influence meat quality and production in pigs, microarray experiments were carried out to find differences in gene expression levels between two pools of six individuals, constituting the extreme tails of the Gaussian distribution of seven adjusted phenotypes of 100 Landrace and Large White animals. The phenotypes considered in this study were: muscle compactness, marbling, colour uniformity, fat covering, colour, dorsal fat, thickness, ham fat thickness. 437 differentially expressed ESTs (Expressed Sequence Tags) were found, clustering in different pathways according to their ontology. In particular, 73 functional categories were identified and ten of them could have a role in meat quality. Among the ESTs belonging to these pathways, seven of them were selected to be validated in quantitative real-time RT-PCR

In vitro evaluation of antibacterial properties and smear layer removal/sealer penetration of a novel silver-citrate root canal irrigant

This study aimed at evaluating the efficacy of a novel silver-citrate root canal irrigation solution (BioAKT) on smear layer removal, sealer penetration after root canal instrumentation and antibacterial activity. Single-root teeth were endodontically treated, sealed with an epoxi-amine resin sealer and irrigated using: Group I: 5.25% sodium hypochlorite (NaOCl). Group II: silver-citrate solution (BioAKT). Group III: phosphate buffer solution (PBS). Group IV: 17% ethylenediaminetetraacetic acid (EDTA). Smear layer removal and silver deposition at the coronal, middle and apical portion of each canal were analyzed using scanning electron microscopy (SEM) and energy-dispersive x-ray spectroscopy (EDS). Sealer penetration into dentinal tubules at coronal, middle and apical portion was assessed through dye-assisted confocal microscopy (CSM). Both SEM and CSM micrographs were evaluated by two examiners (\u3ba = 0.86), who were blind to the irrigation regimens. scores were given according to the degree of penetration of the sealer. Data analysis included Pearson's x2 and Sidak's multiple comparisons. Dentin discs were polished and sterilized. Enterococcus faecalis biofilms were grown using a continuous-flow bioreactor under anaerobic conditions for 72 h. Specimens were irrigated with the tested solutions, and bacterial viability was assessed using a tetrazolium salt assay (MTT). Statistical analysis included one-way ANOVA and Student's post-hoc t-test (p<0.05). BioAKT and EDTA were the most efficient solutions both in removing the smear layer and allowing sealer penetration. However, at the apical portion BioAKT performed significantly better compared to EDTA both in smear layer removal and sealer penetration (p<0.05). BioAKT and NaOCl showed comparable antibacterial effect (p = 0.53). In conclusion, BioAKT represents a suitable smear layer removal agent, which allows for reliable sealer penetration at the apical portion of the root canal system and offers significant antibacterial properties

Prognostic factors and treatment-effect modifiers in spinal muscular atrophy

Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease characterized by loss of motor neurons and muscle atrophy. Untreated infants with Type 1 SMA do not achieve major motor milestones, and death from respiratory failure typically occurs before 2 years. Individuals with Types 2 and 3 SMA exhibit milder phenotypes and have better functional and survival outcomes. Herein, a systematic literature review was conducted to identify factors that influence the prognosis of Types 1, 2 and 3 SMA. In untreated infants with Type 1 SMA, absence of symptoms at birth, a later symptom onset and a higher survival of motor neuron 2 (SMN2) copy number are all associated with increased survival. Disease duration, age at treatment initiation and, to a lesser extent, baseline function were identified as potential treatment-modifying factors for survival, emphasizing that early treatment with disease-modifying therapies (DMT) is essential in Type 1 SMA. In patients with Types 2 and 3 SMA, factors considered prognostic of changes in motor function were SMN2 copy number, age and ambulatory status. Individuals aged 6-15 years were particularly vulnerable to developing complications (scoliosis and progressive joint contractures) which negatively influence functional outcomes and may also affect the therapeutic response in patients. Age at the time of treatment initiation emerged as a treatment-effect modifier on the outcome of DMTs. Factors identified in this review should be considered prior to designing or analyzing studies in an SMA population, conducting population matching or summarizing results from different studies on the treatments for SMA

Innovation in GI teaching and learning: a case-based approach

giCASES – Creating a University-Enterprise Alliance for a Spatially Enabled Society – is a Knowledge Alliance co-funded within the EC ERASMUS+ Programme. General objectives: a) To enable and strengthen innovation in GI education and industry; b) To facilitate the collaborative creation, management and sharing of knowledge. These objectives are addressed by developing new, innovative and multidisciplinary approaches to teaching and learning within the Geographic Information (GI) sector, and facilitating the exchange, flow and co-creation of knowledge. In particular, giCASES aims to: a) Improve the quality and relevance of GI courses provided by the University members of the consortium; b) Facilitate the growth of new knowledge-sharing processes and tools between enterprises and universities; c) Improve the management of knowledge by the partners. The overall approach to address these objectives is to develop new learning material and processes based on case-based learning. In the approach taken in the project, enterprises and academia collaborate both when creating learning material based on real cases and also during and after the courses (through a collaborative platform)

Genetic modifiers of Duchenne muscular dystrophy and dilated cardiomyopathy

OBJECTIVE: Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and the VTTT/IAAM haplotype in LTBP4) also modify DCM onset. METHODS: A multicentric cohort of 178 DMD patients was genotyped by TaqMan assays. We performed a time-to-event analysis of DCM onset, with age as time variable, and finding of left ventricular ejection fraction 70 mL/m2 as event (confirmed by a previous normal exam < 12 months prior); DCM-free patients were censored at the age of last echocardiographic follow-up. RESULTS: Patients were followed up to an average age of 15.9 \ub1 6.7 years. Seventy-one/178 patients developed DCM, and median age at onset was 20.0 years. Glucocorticoid corticosteroid treatment (n = 88 untreated; n = 75 treated; n = 15 unknown) did not have a significant independent effect on DCM onset. Cardiological medications were not administered before DCM onset in this population. We observed trends towards a protective effect of the dominant G allele at SPP1 rs28357094 and recessive T allele at LTBP4 rs10880, which was statistically significant in steroid-treated patients for LTBP4 rs10880 (< 50% T/T patients developing DCM during follow-up [n = 13]; median DCM onset 17.6 years for C/C-C/T, log-rank p = 0.027). CONCLUSIONS: We report a putative protective effect of DMD genetic modifiers on the development of cardiac complications, that might aid in risk stratification if confirmed in independent cohorts

Innovation in GI teaching and learning: a case-based approach

There is a need to align the geospatial education and training offered by European universities with the requirement of the private and public sector to have access to a well-trained Geographic Information workforce. Over the past decades the collaboration between academia and the private and public sector gained importance in research as well as education. However, a more intense collaboration and more innovative methods are necessary to cope with the challenges of the fast evolving technological developments in the geospatial and ICT fields. In the context of the giCASES Erasmus+ project, a case-based and collaborative learning method has been designed based on the concept of co-creation of knowledge. Six case studies have been identified and described to test the approach. The case studies have been analysed and modelled with focus on three collaborative learning patterns. This poster describes the approach, the identified case studies, as well as the collaborative learning patterns. In ongoing and future work, the different patterns will serve as use cases for the deployment of a collaborative learning platform and for testing the co-creation of knowledge

Conservation of energy and momenta in nonholonomic systems with affine constraints

We characterize the conditions for the conservation of the energy and of the components of the momentum maps of lifted actions, and of their `gauge-like' generalizations, in time-independent nonholonomic mechanical systems with affine constraints. These conditions involve geometrical and mechanical properties of the system, and are codified in the so-called reaction-annihilator distribution

Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial

In a previous Phase 2 study, olesoxime had a favorable safety profile. Although the primary endpoint was not met, analyses suggested that olesoxime might help in the maintenance of motor function in patients with Types 2/3 SMA. This open-label extension study (OLEOS) further characterizes the safety, tolerability and efficacy of olesoxime over longer therapy durations. In OLEOS, no new safety risks were identified. Compared to matched natural history data, patients treated with olesoxime demonstrated small, non-significant changes in motor function over 52 weeks. Motor function scores were stable for 52 weeks but declined over the remainder of the study. The greatest decline in motor function was seen in patients ≤15 years old, and those with Type 2 SMA had faster motor function decline versus those with Type 3 SMA. Previous treatment with olesoxime in the Phase 2 study was not protective of motor function in OLEOS. Respiratory outcomes were stable in patients with Type 3 SMA >15 years old but declined in patients with Type 2 SMA and in patients with Type 3 SMA ≤15 years old. Overall, with no stabilization of functional measures observed over 130 weeks, OLEOS did not support significant benefit of olesoxime in patients with SMA