Mapeo fino de QTL y análisis de genes candidatos relacionados con el metabolismo lipídico en un cruce de Ibérico x Landrace

Vegeu amcresum1de1.pd

SNP+ to predict dropout rates in SNP arrays

Altres ajuts: acords transformatius de la UAB. Altres ajuts: LoupO project (EFA354/19) of the European Interreg Program V-A Spain-France-Andorra (POCTEFA 2014-2020)Genotyping individuals using forensic or non-invasive samples such as hair or fecal samples increases the risk of allelic amplification failure (dropout) due to the low quality and quantity of DNA. One way to decrease genotyping errors is to increase the number of replicates per sample. Here, we have developed the software SNP+ to estimate the dropout probability and the subsequent required number of replicates to obtain the reliable genotype with probability 95%. Moreover, the software predicts the minor allele frequency and compares two competing models assuming equal or allele-specific dropout probabilities by Bayes factor. The software handles data from one SNP to high density arrays (e.g., 100,000 SNPs)

Analysis of porcine MUC4 gene as a candidate gene for prolificacy QTL on SSC13 in an Iberian × Meishan F2 population

Background: Reproductive traits, such as prolificacy, are of great interest to the pig industry. Better understanding of their genetic architecture should help to increase the efficiency of pig productivity through the implementation of marker assisted selection (MAS) programmes. Results: The Mucin 4 (MUC4) gene has been evaluated as a candidate gene for a prolificacy QTL described in an Iberian × Meishan (Ib × Me) F2 intercross. For association analyses, two previously described SNPs (DQ124298:g.243A>G and DQ124298:g.344A>G) were genotyped in 347 pigs from the Ib × Me population. QTL for the number of piglets born alive (NBA) and for the total number of piglets born (TNB) were confirmed on SSC13 at positions 44 cM and 51 cM, respectively. The MUC4 gene was successfully located within the confidence intervals of both QTL. Only DQ124298:g.344A>G MUC4 polymorphism was significantly associated with both NBA and TNB (P-value < 0.05) with favourable effects coming from the Meishan origin. MUC4 expression level was determined in F2 sows displaying extreme phenotypes for the number of embryos (NE) at 30-32 days of gestation. Differences in the uterine expression of MUC4 were found between high (NE ≥ 13) and low (NE ≤ 11) prolificacy sows. Overall, MUC4 expression in high prolificacy sows was almost two-fold increased compared with low prolificacy sows. Conclusions: Our data suggest that MUC4 could play an important role in the establishment of an optimal uterine environment that would increase embryonic survival during pig gestation

Evolution of Scientific Production on Health Literacy and Health Education—A Bibliometric Analysis

In the last few years, there has been an emphasis on the importance of health literacy (HL) and health education (HE) as basic tools to empower individuals and the community. The increasing interest in HL and HE has been observed through the evolution of publications and the nature of the main trends in the last few years. Knowing how HL and HE have evolved in scientific publications can help us to identify trends and set work priorities in this scope. Based on this, a bibliometric analysis (from 2000 to 2021) was conducted in two phases: first, an analysis was performed on the publications included in the Web of Science (WOS); second, a more specific analysis was conducted on the Core Collection from WOS. The data were analyzed with two software programs, the and Bibliometrix package for RStudio, and VOSviewer to analyze number of publications, citations, authors, collaborations, keywords trends, keywords evolutions and clusters of related terms. A total of 1799 articles were found in the first phase, and 727 in the second. The results from both analyses showed that the publications increased unequally until 2020, and considerably decreased in 2021; however, in spite of this, the number of citations remained constant. Likewise, five word clusters related with HL and HE were identified. D. Nutbeam stood out as the most prolific author on the subject, the USA as the country with the most publications, and the International Journal of Environmental Research and Public Health as having the most articles on the subject. This analysis may be a useful and helpful tool for future studies on the subject.This study has been co-financed under the RETSASO EFA 341/19 Project with FEDER funds. In addition, it has been subsidized by the DOTS University Chair (Chair for the Development of Healthy and Sustainable Organizations and Territoires), approved by agreement No. 193/2017 of the Governing Council of the University of Lleida on 19 July 2017

Does root development status affect the outcome of tooth autotransplantation? A systematic review and meta-analysis

Background: Tooth autotransplantation is defined as the surgical repositioning of an autogenous tooth in another surgical site within the same individual. Aim: The aim of this research was to analyze the outcome of tooth transplantation using immature donor teeth compared with closed apex teeth and to compare differences between donor tooth positions on the arch. Methods: Electronic and manual literature searches were performed in different databases, including the National Library of Medicine (MEDLINE), EMBASE (OVID), Cochrane Central (CENTRAL), and the digital library of the Universitat Internacional de Catalunya (UIC University) from 1978 to March 2021. Studies were selected when they fulfilled the following criteria: only human prospective clinical studies, minimum sample size of 10 patients, minimum follow-up of 1 year, studies reporting or with at least deducible data on survival rates, immediate tooth autotransplantation with completed or incomplete root formation, and publications in the English language. A meta-analysis of random effects was developed to estimate the global effect measure of the survival rate, success rate, and root resorption involving the total sample, as well as open- and closed-apex groups. Results: Twenty-four articles were eligible for analysis. The Cohen's kappa corresponding to this review was 0.87, and the risk assessment was considered low-moderate for the included studies. Overall survival and success rates were 95.9% and 89.4%, respectively, with a mean follow-up of 4 years and an overall mean age of 25.2 ± 12.3 years. Closed apex teeth showed a survival rate of 3.9% lower than that of open apex teeth. Higher complication rates were found for both inflammatory external root resorption and replacement root resorption in the closed-apex group, without reaching statistical significance. Conclusions: Tooth autotransplantation is a viable treatment alternative, regardless of the apical condition, with high survival and success rates after a mean follow-up of 4 years. Open-apex donor teeth could be considered the gold-standard option, showing lower complication rates when compared to closed-apex donor teeth. Future randomized controlled clinical studies are needed to examine the long-term prognosis of this technique

Sensitive quantification of the HIV-1 reservoir in gut-associated lymphoid tissue

Biòpsia; VIH-1; Teixit limfoideBiopsia; VIH-1; Tejido linfoideBiopsy; HIV-1; Lymphoid tissueBackground The implementation of successful strategies to achieve an HIV cure has become a priority in HIV research. However, the current location and size of HIV reservoirs is still unknown since there are limited tools to evaluate HIV latency in viral sanctuaries such as gut-associated lymphoid tissue (GALT). As reported in the so called “Boston Patients”, despite undetectable levels of proviral HIV-1 DNA in blood and GALT, viral rebound happens in just few months after ART interruption. This fact might imply that current methods are not sensitive enough to detect residual reservoirs. Showing that, it is imperative to improve the detection and quantification of HIV-1 reservoir in tissue samples. Herein, we propose a novel non-enzymatic protocol for purification of Lamina Propria Leukocytes (LPL) from gut biopsies combined to viral HIV DNA (vDNA) quantification by droplet digital PCR (ddPCR) to improve the sensitivity and accuracy of viral reservoir measurements (LPL-vDNA assay). Methods Endoscopic ileum biopsies were sampled from 12 HIV-1-infected cART-suppressed subjects. We performed a DTT/EDTA-based treatment for epithelial layer removal followed by non-enzymatic disruption of the tissue to obtain lamina propria cell suspension (LP). CD45+ cells were subsequently purified by flow sorting and vDNA was determined by ddPCR. Results vDNA quantification levels were significantly higher in purified LPLs (CD45+) than in bulk LPs (p<0.01). The levels of vDNA were higher in ileum samples than in concurrent PBMC from the same individuals (p = 0.002). As a result of the increased sensitivity of this purification method, the Poisson 95% confidence intervals of the vDNA quantification data from LPLs were narrower than that from bulk LPs. Of note, vDNA was unambiguously quantified above the detection limit in 100% of LPL samples, while only in 58% of bulk LPs. Conclusion We propose an innovative combined protocol for a more sensitive detection of the HIV reservoir in gut-associated viral sanctuaries, which might be used to evaluate any proposed eradication strategy.This substudy was supported by ViiV and the American Foundation for AIDS Research (amfAR) (ARCHE). IrsiCaixa was supported by the CERCA programme from Generalitat de Catalunya. MS was supported by the post-doctoral training scholarship (Juan de la Cierva) of the Spanish Economy and Competitiveness Ministry (FPDI-2013-17134). SM-L received a fellowship from the Agència de Gestió d’Ajuts Universitaris i de Recerca (2013FI_B 00275). CG was partially supported by the pre-doctoral fellowship of the Spanish Education, Culture and Sport Ministry (FPU15/03698). The funders had no role in study design, data collection and interpretation, or the decision to submit the work for publication

A genome-wide association analysis for porcine serum lipid traits reveals the existence of age-specific genetic determinants

Background: The genetic determinism of blood lipid concentrations, the main risk factor for atherosclerosis, is practically unknown in species other than human and mouse. Even in model organisms, little is known about how the genetic determinants of lipid traits are modulated by age-specific factors. To gain new insights into this issue, we have carried out a genome-wide association study (GWAS) for cholesterol (CHOL), triglyceride (TRIG) and low (LDL) and high (HDL) density lipoprotein concentrations measured in Duroc pigs at two time points (45 and 190 days). Results: Analysis of data with mixed-model methods (EMMAX, GEMMA, GenABEL) and PLINK showed a low positional concordance between trait-associated regions (TARs) for serum lipids at 45 and 190 days. Besides, the proportion of phenotypic variance explained by SNPs at these two time points was also substantially different. The four analyses consistently detected two regions on SSC3 (124 Mb, CHOL and LDL at 190 days) and SSC6 (135 Mb, CHOL and TRIG at 190 days) with highly significant effects on the porcine blood lipid profile. Moreover, we have found that SNP variation within SSC3, SSC6, SSC10, SSC13 and SSC16 TARs is associated with the expression of several genes mapping to other chromosomes and related to lipid metabolism. Conclusions: Our data demonstrate that the effects of genomic determinants influencing lipid concentrations in pigs, as well as the amount of phenotypic variance they explain, are influenced by age-related factors.This work has been funded by grants AGL2007-66707-C02 and AGL2010-22208-C02 (Ministerio de Ciencia e Innovación) and CSD 2007-00036 (Ministerio de Ciencia e Innovación, Consolider Ingenio 2010 Program)

Excipients in the Paediatric Population: A Review

This theoretical study seeks to critically review the use of excipients in the paediatric population. This study is based on the rules and recommendations of European and American drug regulatory agencies. On the one hand, this review describes the most frequent excipients used in paediatric medicine formulations, identifying the compounds that scientific literature has marked as potentially harmful regarding the side effects generated after exposure. On the other hand, this review also highlights the importance of carrying out safety -checks on the excipients, which, in most cases, are linked to toxicity studies. An excipient in the compilation of paediatric population databases is expected to target safety and toxicity, as in the STEP database. Finally, a promising pharmaceutical form for child population, ODT (Orally Disintegrating Tablets), will be studied

A conserved function of Human DLC3 and Drosophila Cv-c in testis development

The identification of genes affecting gonad development is essential to understand the mechanisms causing Variations/Differences in Sex Development (DSD). Recently, a DLC3 mutation was associated with male gonadal dysgenesis in 46,XY DSD patients. We have studied the requirement of Cv-c, the Drosophila ortholog of DLC3, in Drosophila gonad development, as well as the functional capacity of DLC3 human variants to rescue cv-c gonad defects. We show that Cv-c is required to maintain testis integrity during fly development. We find that Cv-c and human DLC3 can perform the same function in fly embryos, as flies carrying wild type but not patient DLC3 variations can rescue gonadal dysgenesis, suggesting functional conservation. We also demonstrate that the StART domain mediates Cv-c's function in the male gonad independently from the GAP domain's activity. This work demonstrates a role for DLC3/Cv-c in male gonadogenesis and highlights a novel StART domain mediated function required to organize the gonadal mesoderm and maintain its interaction with the germ cells during testis development.This work was supported by María de Maeztu Unit excellence grants MDM-2016-0687 and CEX2020-001088 M and a Ministerio de Ciencia e Innovación grant PID2019-104656GB-I00 cofunded by the European Regional Development Fund (FEDER) to JC-GH. SV acknowledges support from the Swiss National Science Foundation (PP00P3_194807). This work was also supported by grants from the Swiss National Supercomputing Centre under project ID s1132 and has received funding from the European Research Council under the European Union’s Horizon 2020 research and innovation program (grant agreement no. 803952). AL-B acknowledges support from the Swiss National Science Foundation’s Grant 320030-184807. LL acknowledges support from the Swiss National Science Foundation (grant number SCOPES IZ73Z0_152347/1) and National Academy of Sciences of Ukraine, project 'Molecular-Genetic Mechanisms of Human Disorders of Sexual Development' [0121U110054]: With funding from the Spanish government through the ‘Severo Ochoa Centre of Excellence’ accreditation (referencia del instituto). Por ejemplo: With funding from the Spanish government through the ‘Severo Ochoa Centre of Excellence’ accreditation (CEX2020-001088)

Validation of a titration method to determine chondroitin sulfate loaded to solid lipid nanoparticles in an experimental factorial design

Previous efforts at the Faculty of Pharmacy and Food Sciences of the University of Barcelona, have achieved to obtain cationic solid lipid nanoparticles (cSLN), with an average size of less than 200 nm, by the hot microemulsion method, which have been tested as a vehicle for pDNA and siRNA, in the transfection of cell lines. It is of scientific interest to evaluate the capacity of SLN transporting different types of biomolecules with pharmacological potential. Chondroitin sulfate (CHON) is a major component of the extracellular matrix of several connective tissues, including skin, bone, ligaments, tendons and cartilage. For that reason, CHON is a potential therapeutical agent in Osteoarthritis (OA), which is characterized by progressive structural and metabolic changes in joint tissues. Studies recommend topical administration in treating OA as first line therapy, and the development of topical systems with nanotechnology may introduce a new perspective for future treatment of OA. An experimental factorial design, to optimize the production of SLN of CHON, was employed. The variables were defined as Concentration (mg/ml), Stirring rate (rpm) and Reaction time (min). Different properties were tested, including entrapment efficiency of CHON, zeta potential and particle size. A titration method was validated to test entrapment efficiency of CHON. A calibration curve was obtained from 0.10 to 1.20 mg mL-1 (r > 0.9994). Withinday % RSD was 0.7 and between-day % RSD was 1.11. Specificity/ selectivity experiments revealed the absence of important interference from excipients, mean recovery from spiked samples for CHON was 93.6 %