The role of Spanish health libraries in scientific publication

Health libraries have been established as publication support services. Despite its importance, there is currently no study about the services that these centers offer. The aim of this work is to understand the role that libraries play in institutional scientific publishing policies. The sample was taken from the National Catalogue of Hospitals, the list of libraries of the Catalogue of Periodicals in Spanish Health Sciences Libraries (c17) and the National Catalogue of Health Sciences Publications (CNCS). Subsequently, virtual health libraries have also been incorporated. From this list, a questionnaire about library staff and activities related to publication process was sent. We obtained a participation rate of 61.21%. The average number of technical personnel was 1.15 in virtual libraries and 0.81 in hospital libraries. The activities carried out have been: training activities (82.2%), counselling (90.1%), dissemination (30.7%) and evaluation (50.5%). The staff in libraries are insufficient. In many cases technicians assume an overwork of serving in both (virtual and hospital libraries). Most libraries offer training and research support services although there are differences between virtual and hospital ones. There is a relationship between the number of technicians and the publication support services

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick disease type C (NP-C) serves to illustrate the challenges, benefits and pitfalls associated with screening for ultra-rare inborn errors of metabolism (IEMs). A comprehensive, non-systematic review of published information from NP-C screening studies was conducted, focusing on diagnostic methods and study designs that have been employed to date. As a key part of this analysis, data from both successful studies (where cases were positively identified) and unsuccessful studies (where the chosen approach failed to identify any cases) were included alongside information from our own experiences gained from the planning and execution of screening for NP-C. On this basis, best-practice recommendations for ultra-rare IEM screening are provided. Twenty-six published screening studies were identified and categorised according to study design into four groups: 1) prospective patient cohort and family-based secondary screenings (18 studies);2) analyses of archived 'biobank' materials (one study);3) medical chart review and bioinformatics data mining (five studies);and 4) newborn screening (two studies). NPC1/NPC2 sequencing was the most common primary screening method (Sanger sequencing in eight studies and next-generation sequencing [gene panel or exome sequencing] in five studies), followed by biomarker analyses (usually oxysterols) and clinical surveillance. Historically, screening for NP-C has been based on single-patient studies, small case series, and targeted cohorts, but the emergence of new diagnostic methods over the last 5-10 years has provided opportunities to screen for NP-C on a larger scale. Combining clinical, biomarker and genetic diagnostic methods represents the most effective way to identify NP-C cases, while reducing the likelihood of misdiagnosis. Our recommendations are intended as a guide for planning screening protocols for ultra-rare IEMs in general

Inhibition of gamma-secretase promotes axon regeneration after a complete spinal cord injury

In a recent study, we showed that GABA and baclofen (a GABAB receptor agonist) inhibit caspase activation and promote axon regeneration in descending neurons of the sea lamprey brainstem after a complete spinal cord injury (Romaus-Sanjurjo et al., 2018a). Now, we repeated these treatments and performed 2 independent Illumina RNA-Sequencing studies in the brainstems of control and GABA or baclofen treated animals. GABA treated larval sea lampreys with their controls were analyzed 29 days after a complete spinal cord injury and baclofen treated larvae with their controls 9 days after the injury. One of the most significantly downregulated genes after both treatments was a HES gene (HESB). HES proteins are transcription factors that are key mediators of the Notch signaling pathway and gamma-secretase activity is crucial for the activation of this pathway. So, based on the RNA-Seq results we subsequently treated spinal cord injured larval sea lampreys with a novel gamma-secretase inhibitor (PF-3804014). This treatment also reduced the expression of HESB in the brainstem and significantly enhanced the regeneration of individually identifiable descending neurons after a complete spinal cord injury. Our results show that gamma-secretase could be a novel target to promote axon regeneration after nervous system injuriesGrant sponsors: FEDER/Ministerio de Ciencia, Innovación y Universidades – Agencia Estatal de Investigación (Grant number: BFU-2017-87079-P) and the Xunta de Galicia (Grant number: ED431C 2018/28). DR was supported by the BBSRC Institute Strategic Programme Grants to the Roslin Institute (BB/P013732/1, BB/P013740/1, and BB/P013759/1)S

Two-stage case-control association study of dopamine-related genes and migraine

Background We previously reported risk haplotypes for two genes related with serotonin and dopamine metabolism: MAOA in migraine without aura and DDC in migraine with aura. Herein we investigate the contribution to migraine susceptibility of eight additional genes involved in dopamine neurotransmission. Methods We performed a two-stage case-control association study of 50 tag single nucleotide polymorphisms (SNPs), selected according to genetic coverage parameters. The first analysis consisted of 263 patients and 274 controls and the replication study was composed by 259 cases and 287 controls. All cases were diagnosed according to ICHD-II criteria, were Spanish Caucasian, and were sex-matched with control subjects. Results Single-marker analysis of the first population identified nominal associations of five genes with migraine. After applying a false discovery rate correction of 10%, the differences remained significant only for DRD2 (rs2283265) and TH (rs2070762). Multiple-marker analysis identified a five-marker T-C-G-C-G (rs12363125-rs2283265-rs2242592-rs1554929-rs2234689) risk haplotype in DRD2 and a two-marker A-C (rs6356-rs2070762) risk haplotype in TH that remained significant after correction by permutations. These results, however, were not replicated in the second independent cohort. Conclusion The present study does not support the involvement of the DRD1, DRD2, DRD3, DRD5, DBH, COMT, SLC6A3 and TH genes in the genetic predisposition to migraine in the Spanish population

Catálogo 2000: Informes y publicaciones de las Agencias Españolas de Evaluación de Tecnologías Sanitarias

La Agencia de Evaluación de Tecnologías Sanitarias (AETS) tiene por objetivo facilitar información técnica relevante, basada en la evidencia científica, dentro del tiempo apropiado y contextualizada de forma que sea útil para la toma de decisiones por parte de clínicos, administradores y autoridades sanitarias, u otros operadores sanitarios, sean públicos o privados. Estos agentes se convierten así en usuarios de la ETS, por su necesidad de información sobre eficacia, efectividad y eficiencia de numerosos procedimiento, ya sean nuevos o formen parte de la práctica clínica habitual.Ficha técnica, Funciones, Objetivos, Clase de publicaciones Resúmenes de Informes Públicos de Evaluación, Posibles publicaciones para el año 2000. AATM: Ficha técnica, Introducción, Estructura Clase de publicaciones, Resúmenes de Informes Públicos de Evaluación Posibles publicaciones para el año 2000. AETSA: Ficha técnica, Introducción, Historia, Objetivos, Funciones, Estructura, Clase de publicaciones, Resúmenes de Informes Públicos de Evaluación, Posibles publicaciones para el año 2000. AVALIA-T: Ficha técnica, Creación de la Agencia, Resúmenes de Informes Públicos de Evaluación, Posibles publicaciones para el año 2000. OSTEBA: Ficha técnica, Introducción Actividad del Servicio, Redes de colaboración, Clase de publicaciones Resúmenes de Informes Públicos de Evaluación, Posibles publicaciones para el año 2000. Relación de Agencias internacionales de Evaluación de Tecnologías Sanitarias pertenecientes a INAHTA

Vaccinia Virus Strain MVA Expressing a Prefusion-Stabilized SARS-CoV-2 Spike Glycoprotein Induces Robust Protection and Prevents Brain Infection in Mouse and Hamster Models

24 Pág.The COVID-19 pandemic has underscored the importance of swift responses and the necessity of dependable technologies for vaccine development. Our team previously developed a fast cloning system for the modified vaccinia virus Ankara (MVA) vaccine platform. In this study, we reported on the construction and preclinical testing of a recombinant MVA vaccine obtained using this system. We obtained recombinant MVA expressing the unmodified full-length SARS-CoV-2 spike (S) protein containing the D614G amino-acid substitution (MVA-Sdg) and a version expressing a modified S protein containing amino-acid substitutions designed to stabilize the protein a in a pre-fusion conformation (MVA-Spf). S protein expressed by MVA-Sdg was found to be expressed and was correctly processed and transported to the cell surface, where it efficiently produced cell-cell fusion. Version Spf, however, was not proteolytically processed, and despite being transported to the plasma membrane, it failed to induce cell-cell fusion. We assessed both vaccine candidates in prime-boost regimens in the susceptible transgenic K18-human angiotensin-converting enzyme 2 (K18-hACE2) in mice and in golden Syrian hamsters. Robust immunity and protection from disease was induced with either vaccine in both animal models. Remarkably, the MVA-Spf vaccine candidate produced higher levels of antibodies, a stronger T cell response, and a higher degree of protection from challenge. In addition, the level of SARS-CoV-2 in the brain of MVA-Spf inoculated mice was decreased to undetectable levels. Those results add to our current experience and range of vaccine vectors and technologies for developing a safe and effective COVID-19 vaccine.This research was funded by Instituto de Salud Carlos III, Fondo COVID-19 de proyectos de investigación sobre SARS-CoV-2 y la enfermedad COVID-19 grant COV20/00901, and grant PID2021-128466OR-I00 funded by funded by MCIN/AEI/10.13039/501100011033 as part of Plan Estatal de Investigación Científica, Desarrollo e Innovación. This research work was also funded by the European Commission—NextGenerationEU, through CSIC’s Global Health Platform (PTI Salud Global). All experiments using bioluminescent imaging approach were supported by NIH grant to WM. Research on SARS-CoV-2 in L.M-S laboratory was partially supported by the San Antonio Partnership for Precision Therapeutics, the San Antonio Medical Foundation, and the Texas Biomedical Research Institute Forum Foundation.Peer reviewe

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

El papel de las bibliotecas de ciencias de la salud españolas en la publicación científica

Background: Health libraries have been established as publication support services. Despite its importance, there is currently no study about the services that these centers offer. The aim of this work is to understand the role that libraries play in institutional scientific publishing policies. Material and methods: The sample was taken from the National Catalogue of Hospitals, the list of libraries of the Catalogue of Periodicals in Spanish Health Sciences Libraries (c17) and the National Catalogue of Health Sciences Publications (CNCS). Subsequently, virtual health libraries have also been incorporated. From this list, a questionnaire about library staff and activities related to publication process was sent. Results: We obtained a participation rate of 61.21%. The average number of technical personnel was 1.15 in virtual libraries and 0.81 in hospital libraries. The activities carried out have been: training activities (82.2%), counselling (90.1%), dissemination (30.7%) and evaluation (50.5%) Conclusions: The staff in libraries are insufficient. In many cases technicians assume an overwork of serving in both (virtual and hospital libraries). Most libraries offer training and research support services although there are differences between virtual and hospital ones. There is a relationship between the number of technicians and the publication support services