Natural feed after weaning improves the reproductive status of "Solea senegalensis" breeders

[EN] The aim of this study was to evaluate the effect of long term natural feeding in the subsequent reproductive status of 4 years old cultured Solea senegalensis, and to determine if the potential changes were structural or feeding dependent. To this aim, two different feeding regimes were used from one year after weaning and during the following 3 years; 1) a commercial dry food diet and 2) a natural feeding regime. After this period, the proportion of fluent males and the evolution of maturity stages of females over a breeding season were studied. A complete sperm quality analysis assessment was carried out, including individual volumes, motility, density and curvilinear, rectilinear and mean velocities of spermatozoa. Moreover, viability and apoptosis indexes were analyzed as indicator of molecular sperm membrane integrity. Additionally, a morphological characterization of the testes during the spawning season was conducted. Finally, both groups were fed with the same commercial pellets during one year to evaluate the effect of the diet of previous years on sperm quality. The results of this study showed how feeding can improve not only sperm quality and quantity, but also the proportion of fluent males and females in advanced maturity stages. All the sperm quality parameters resulted significantly higher in the group fed with a natural diet. Moreover, the number of apoptotic cells was significantly higher in the group fed with a commercial diet. According to the morphological features of the testes, the animals fed with a natural diet presented more basal position, less protuberances and irregular edges when compared with the animals fed with commercial diet. Interestingly, the progression of the spermatogenesis determined by the proportion of germ cells and the production of spermatozoa determined by the wider of the ducts system was also significantly larger in the natural diet group. After the standardization of the diets, mean volume per male and production of total motile cells were significantly higher in the group that was previously fed a natural diet, confirming structural improvements.S

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases

Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by photoreceptors degeneration. Exhibiting great clinical and genetic heterogeneity, RP can be inherited as an autosomal dominant (ad), autosomal recessive (ar) and X-linked (xl) disorder. Although the relative prevalence of each form varies somewhat between populations, a major proportion (41% in Spain) of patients represent simplex cases (sRP) in which the mode of inheritance is unknown. Molecular genetic diagnostic is crucial, but also challenging, for sRP patients because any of the 81 RP genes identified to date may be causative. Herein, we report the use of a customized targeted gene panel consisting of 68 IRD genes for the molecular characterization of 106 sRP cases. The diagnostic rate was 62.26% (66 of 106) with a proportion of clinical refinements of 30.3%, demonstrating the high efficiency of this genomic approach even for clinically ambiguous cases. The high number of patients diagnosed here has allowed us to study in detail the genetic basis of the sRP. The solved sRP cohort is composed of 62.1% of arRP cases, 24.2% of adRP and 13.6% of xlRP, which implies consequences for counselling of patients and families.Union Europea PI15-01648España Ministerio de Economía y Competitividad PI11-02923Junta de Andalucía,Ministerio de Economía, Innovación, Ciencia y Empleo CTS-166

An All-Organic Flexible Visible Light Communication System

Visible light communication systems can be used in a wide variety of applications, from driving to home automation. The use of wearables can increase the potential applications in indoor systems to send and receive specific and customized information. We have designed and developed a fully organic and flexible Visible Light Communication system using a flexible OLED, a flexible P3HT:PCBM-based organic photodiode (OPD) and flexible PCBs for the emitter and receiver conditioning circuits. We have fabricated and characterized the I-V curve, modulation response and impedance of the flexible OPD. As emitter we have used a commercial flexible organic luminaire with dimensions 99 × 99 × 0.88 mm, and we have characterized its modulation response. All the devices show frequency responses that allow operation over 40 kHz, thus enabling the transmission of high quality audio. Finally, we integrated the emitter and receiver components and its electronic drivers, to build an all-organic flexible VLC system capable of transmitting an audio file in real-time, as a proof of concept of the indoor capabilities of such a system.This Project was funded by Comunidad de Madrid through the SINFOTON-CM Research Program (S2013/MIT-2790), and the Spanish Ministry of Economy, the Agencia Estatal de Investigación and European Union's FEDER through the TEC2016-77242-C3-(1-R, 2-R and 3-R) AEI/FEDER, UE Projects

Análisis del prácticum y las sesiones de tutoría en las carreras de odontología, informática y educación de la universidad de Salamanca

Memoria ID-114. Ayudas de la Universidad de Salamanca para la innovación docente, curso 2018-2019

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

Clinical exome (CE) sequencing has become a first-tier diagnostic test for hereditary diseases; however, its diagnostic rate is around 30–50%. In this study, we aimed to increase the diagnostic yield of CE using a custom reanalysis algorithm. Sequencing data were available for three cohorts using two commercial protocols applied as part of the diagnostic process. Using these cohorts, we compared the performance of general and clinically relevant variant calling and the efficacy of an in-house bioinformatic protocol (FJD-pipeline) in detecting causal variants as compared to commercial protocols. On the whole, the FJD-pipeline detected 99.74% of the causal variants identified by the commercial protocol in previously solved cases. In the unsolved cases, FJD-pipeline detects more INDELs and non-exonic variants, and is able to increase the diagnostic yield in 2.5% and 3.2% in the re-analysis of 78 cancer and 62 cardiovascular cases. These results were considered to design a reanalysis, filtering and prioritization algorithm that was tested by reassessing 68 inconclusive cases of monoallelic autosomal recessive retinal dystrophies increasing the diagnosis by 4.4%. In conclusion, a guided NGS reanalysis of unsolved cases increases the diagnostic yield in genetic disorders, making it a useful diagnostic tool in medical geneticsWe want to thank the participants for consenting to the use of their data for the study. We would like to thank all technical staff in the genetics service of the Fundación Jiménez Díaz University Hospital for conducting the sequencing and segregation analysis. We also thank Oliver Shaw (IIS-FJD) for editorial assistance. This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425, PI19/00321, PI18/00579 and PI20/00851), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), Ramón Areces Foundation (4019/012), Conchita Rábago Foundation, and the University Chair UAM-IIS-FJD of Genomic Medicine. R.R. is supported by a postdoctoral fellowship of the Comunidad de Madrid (2019-T2/BMD-13714), L.d.l.F. is supported by the platform technician contract of ISCIII (CA18/00017), IPR is supported by a PhD studentship from the predoctoral program from ISCIII (FI17/ 00192), I.F.I. is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017- AI/BMD7256), G.N.M. is supported by a grant from the Comunidad de Madrid (PEJ2020-AI/BMD-18610), A.D. is supported by a PhD studentship from the predoctoral program from ISCIII (FI18/00123), B.A. is supported by a Juan Rodes program from ISCIII (JR17/00020), C.R. is supported by a PhD studentship from the Conchita Rabago Foundation and PM and MC are supported by a Miguel Servet program contract from ISCIII (CP16/00116 and CPII17/00006, respectively). The funders played no role in study design, data collection, data analysis, manuscript preparation, and/or publication decision

La formación en competencia matemática aplicada a la Farmacia Galénica: Comparación de tres cursos consecutivos

Se analizan los resultados de test y problemas numéricos de Farmacia Galénica realizados por estudiantes de 1º del Grado en Farmacia de 3 cursos consecutivos para valorar el impacto de las acciones de mejora en la estrategia de enseñanza-aprendizaje. Los errores más frecuentes conciernen a la aplicación del concepto de porcentaje. Las actividades para diagnosticar la capacidad de resolución de problemas son motivadoras para trabajar las carencias detectadas y mejorar el rendimient

Uncontrolled donation programs after out-of-hospital cardiac arrest. An estimation of potential donors.

Objective To determine the number of potential deceased organ donors from out-of- hospital cardiac arrest cases (OHCA) attended by public physician-led emergency medical services in Spain, based on data recorded in the nationwide Spanish OHCA Registry (OHSCAR). Material and methods We analysed OHSCAR data on deceased OHCA patients in Spain during 13 months (1/10/2013 to 31/10/ 2014). Variables included age, sex, estimated OHCA time, cardiopulmonary resuscitation (CPR) start time and outcome. Inclusion criteria were: age 16–60 years, witnessed OHCA, no return of spontaneous circulation (ROSC) and time interval <15 min between OHCA occurrence and CPR initiation. Results Of a total 8789 cases, 3290 met the age criteria; of these, CPR was not witnessed in 745 cases. Among the remaining 2545 patients, 141 were included in uncontrolled donation after cardiac death (uDCD) programs, 902 arrived at the hospital with ROSC, 64 arrived with ongoing CPR and 15 cases were lost to follow-up. Of the remaining 1423 without ROSC, CPR initiation time was not recorded in 454 cases and 398 did not meet the time criteria <15 min between OHCA and CPR initiation. Finally, 571 met all the criteria and could have been potential donors. There were significant differences in the actual donors percentage from potential donors percentage between provinces with and without donor programs (141/322 = 43.8% versus 0/390 = 0%), but there were no differences in ROSC between the two types of provinces (418/1320 = 31.7% versus 652/1970 = 33.4%). Conclusions Many potential donors are missed in current clinical practice. uDCD programs are few and underused even in a country with high rates of organs transplantation.pre-print820 K

Table2_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.PDF

Supplementary Table 2 Different THRB in vivo and in vitro knock-out and knockdown models and its phenotypic effect.Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of disorders that often severely impair vision. Some patients manifest poor central vision as the first symptom due to cone-dysfunction, which is consistent with cone dystrophy (COD), Stargardt disease (STGD), or macular dystrophy (MD) among others. Here, we aimed to identify the genetic cause of autosomal dominant COD in one family. WGS was performed in 3 affected and 1 unaffected individual using the TruSeq Nano DNA library kit and the NovaSeq 6,000 platform (Illumina). Data analysis identified a novel spliceogenic variant (c.283 + 1G>A) in the thyroid hormone receptor beta gene (THRB) as the candidate disease-associated variant. Further genetic analysis revealed the presence of the same heterozygous variant segregating in two additional unrelated dominant pedigrees including 9 affected individuals with a diagnosis of COD (1), STGD (4), MD (3) and unclear phenotype (1). THRB has been previously reported as a causal gene for autosomal dominant and recessive thyroid hormone resistance syndrome beta (RTHβ); however, none of the IRD patients exhibited RTHβ. Genotype-phenotype correlations showed that RTHβ can be caused by both truncating and missense variants, which are mainly located at the 3′ (C-terminal/ligand-binding) region, which is common to both THRB isoforms (TRβ1 and TRβ2). In contrast, the c.283 + 1G>A variant is predicted to disrupt a splice site in the 5′-region of the gene that encodes the N-terminal domain of the TRβ1 isoform protein, leaving the TRβ2 isoform intact, which would explain the phenotypic variability observed between RTHβ and IRD patients. Interestingly, although monochromacy or cone response alterations have already been described in a few RTHβ patients, herein we report the first genetic association between a pathogenic variant in THRB and non-syndromic IRDs. We thereby expand the phenotype of THRB pathogenic variants including COD, STGD, or MD as the main clinical manifestation, which also reflects the extraordinary complexity of retinal functions mediated by the different THRB isoforms.Peer reviewe

Sub-micro- and nano-sized polyethylene terephthalate deconstruction with engineered protein nanopores

The identification or design of biocatalysts to mitigate the accumulation of plastics, including sub-micro- and nano-sized polyethylene terephthalate (nPET), is becoming a global challenge. Here we computationally incorporated two hydrolytic active sites with geometries similar to that of Idionella sakaiensis PET hydrolase, to fragaceatoxin C (FraC), a membrane pore-forming protein. FraCm1/m2 could be assembled into octameric nanopores (7.0 nm high × 1.6–6.0 nm entry), which deconstructed (40 °C, pH 7.0) nPET from GoodFellow, commodities and plastic bottles. FraCm1 and FraCm2 degrade nPET by endo- and exo-type chain scission. While FraCm1 produces bis(2-hydroxyethyl) terephthalate as the main product, FraCm2 yields a high diversity of oligomers and terephthalic acid. Mechanistic and biochemical differences with benchmark PET hydrolases, along with pore and nPET dynamics, suggest that these pore-forming protein catalytic nanoreactors do not deconstruct macro-PET but are promising in nanotechnology for filtering, capturing and breaking down nPET, for example, in wastewater treatment plants. [Figure not available: see fulltext.]. © 2023, The Author(s).This study was conducted under the auspices of the FuturEnzyme Project funded by the European Union’s Horizon 2020 Research and Innovation Programme under the auspices of the FuturEnzyme Project (grant agreement no. 101000327) and the PlasticsFatE project (grant agreement no. 95921), and Horizon Europe Research and Innovation Programme under grant agreement no. GA101060625 (Nymphe project). We also acknowledge financial support under grants PID2020-112758RB-I00 (M.F.), PDC2021-121534-I00 (M.F.), TED2021-130544B-I00 (M.F.), PID2019-106370RB-I00 (V.G.) and PID2019-105838RB-C31 (F.J.P.) from the Ministerio de Ciencia e Innovación, Agencia Estatal de Investigación (AEI) (Digital Object Identifier MCIN/AEI/10.13039/501100011033), Fondo Europeo de Desarrollo Regional (ERDF) A way of making Europe and the European Union NextGenerationEU/PRTR, UCM-Banco Santander Grants PR87/19-22556 and PR108/20-26896 and UnaEuropa (Unano) SF2106 (to A.M.P.). S.G.-L. was supported by a Real Colegio Complutense Postdoctoral Fellowship for Distinguished Junior Scholars. S.R. thanks the Spanish Ministry of Science and Innovation for a PhD fellowship (FPU19/00608). D.H.-M. thanks Complutense University of Madrid and Banco Santander for a PhD fellowship (CT82/20/CT83/20). A.R.-M. thanks the Spanish Ministry of Science and Innovation for a PhD fellowship (PRE2020-091825) and the project PID2019-106370RB-I00. We thank M. J. Vicente for the ESI–MS analysis, performed at the Servicio Interdepartamental de Investigación (SIDI) from the Autonomous University of Madrid, Spain.Supplementary dataPeer reviewe