La Recerca en terminologia avui

L'objectiu d'aquest «Dossier» és recollir informació actualitzada sobre l'activitat de recerca en terminologia en l'àrea d'acció de les universitats de la Xarxa Vives. Presentem una relació dels grups de recerca que en els darrers anys han estat actius en projectes de recerca, creació de recursos terminogràfics o en la direcció de tesis doctorals i altres treballs de recerca, vinculats amb la terminologia, el discurs especialitzat, la traducció especialitzada, l'enginyeria aplicada al lèxic o als textos d'especialitat, la història de la ciència i de la tècnica, la documentació i altres àmbits afins. També s'inclouen iniciatives que provenen d'àmbits experts, que dediquen una part significativa de la seva recerca a qüestions d'ús o de normalització de la terminologia de les seves àrees. Hem recollit també les darreres concessions de projectes relacionats, directament o indirectament, amb la terminologia i els discursos d'especialitat, de projectes del Pla Nacional de Recerca, Desenvolupament i Innovació del Ministeri d'Economia i Competitivitat a tot l'Estat espanyol, amb la finalitat d'observar tendències en la mena de projectes que es demanen o que es concedeixen dins d'aquest camp de recerca. Finalment, complementa el dossier la llista de les trenta-tres tesis doctorals de les universitats de la Xarxa Vives relacionades també amb aquest tema, defensades entre 2010 i 2014. Aquesta llista dóna continuïtat al «Dossier» del número 2 de terminàlia (desembre de 2010), en què analitzàvem les tesis doctorals sobre terminologia defensades a partir de 1999 a les universitats de la Xarxa Vives. Com en aquella ocasió, hem localitzat les tesis a partir de consultes de paraula clau, matèria i títol de la base de dades TESEO del Ministeri d'Economia i Competitivitat. La cerca s'ha completat amb la revisió de les tesis publicades en el Portal TDX de la Generalitat de Catalunya, a partir de la consulta per període en alguns departaments de filologia, lingüística, documentació i traducció de les universitats vinculades. En el cas de les universitats d'Alacant i Politècnica de València ha calgut consultar els seus respectius portals. En total, en els darrers quinze anys, des de 1999 fins a l'actualitat, s'han defensat 116 tesis sobre terminologia a les universitats de la Xarxa Vives. Cal esmentar que la cerca per paraula clau, matèria i títol, complementada amb la revisió de la llista completa d'alguns departaments, no exclou que puguin haver quedat amagades algunes tesis relacionades amb la terminologia. Agrairem als lectors de la revista que ens ho facin saber, si detecten mancances en aquesta llista, o també en la de grups de recerca, que hem esmentat abans

La Terminologia a Europa, avui

Amb aquest dossier volem oferir, en forma de reportatge, una breu presentació del panorama institucional de la terminologia a l'Europa actual. Organitzem la presentació panoràmica, que en cap cas pretén ser exhaustiva, tot observant en diversos països quina mena d'organismes són els que s'ocupen regularment de les activitats terminològiques. Aquest reportatge inclou dades sobre tots els tipus d'organismes institucionals dedicats a la creació de terminologia, la normalització i la difusió. No hi són tots els països, però els casos recollits ens mostren com s'organitza la terminologia per a determinades llengües i en diversos estats que, en certa mesura, representen regions o zones europees amb tradicions diverses (els països nòrdics, el centre d'Europa, els països de l'est, alguns països del sud). Volgudament hem deixat fora l'organització de la terminologia a l'Estat espanyol i per a les diverses llengües que s'hi parlen, tema que recollirem en números propers de la revista. Només hi incloem els organismes nacionals, els estatals o les associacions o xarxes de regions o zones. La referència a les estructures europees globals, com ara l'Associació Europea de Terminologia, o a les activitats terminològiques de les institucions de la Unió Europea, la trobareu en altres seccions d'aquest mateix número de terminàlia («Entrevista» i «Espai de trobada »). Possiblement, a causa del caràcter no exhaustiu d'aquesta mostra, hi pot haver alguna institució rellevant que no s'esmenti. Us en demanem disculpes, i us agrairem que ens ho feu saber per tenir-ho en compte en reportatges futurs. L'objectiu del dossier és fer conèixer als lectors realitats terminològiques properes geogràficament, però que se senten llunyanes per manca d'interacció directa o perquè responen a tradicions ben diferents. El coneixement d'organitzacions i de dinàmiques distintes ens ha de permetre reflexionar sobre l'adequació de les pròpies o sobre la necessitat de renovar-les

Contribution of genetic and epigenetic mechanisms to Wnt pathway activity in prevalent skeletal disorders

Producción CientíficaWe reported previously that the expression of Wnt-related genes is lower in osteoporotic hip fractures than in 26 osteoarthritis. We aimed to confirm those results by analyzing β-catenin levels and explored potential genetic 27 and epigenetic mechanisms involved. 28 β-Catenin gene expression and nuclear levelswere analyzed by real time PCR and confocal immunofluorescence. 29 Increased nuclear β-catenin was found in osteoblasts isolated from patients with osteoarthritis (99 ± 4 30 units vs. 76 ± 12, p = 0.01, n = 10), without differences in gene transcription, which is consistent with 31 a post-translational down-regulation of β-catenin and decreased Wnt pathway activity. 32 Twenty four single nucleotide polymorphisms (SNPs) of genes showing differential expression between fractures 33 and osteoarthritis (WNT4, WNT10A, WNT16 and SFRP1) were analyzed in DNA isolated from blood of 853 pa- 34 tients. The genotypic frequencies were similar in both groups of patients, with no significant differences. 35 Methylation ofWnt pathway genes was analyzed in bone tissue samples (15 with fractures and 15 with osteo- 36 arthritis) by interrogating a CpG-based methylation array. Six genes showed significant methylation differences 37 between both groups of patients: FZD10, TBL1X, CSNK1E, WNT8A, CSNK1A1L and SFRP4. The DNA demethylating 38 agent 5-deoxycytidine up-regulated 8 genes, including FZD10, in an osteoblast-like cell line, whereas it down- 39 regulated other 16 genes. 40 In conclusion,Wnt activity is reduced in patientswith hip fractures, in comparisonwith thosewith osteoarthritis. 41 It does not appear to be related to differences in the allele frequencies of the Wnt genes studied. On the other 42 hand, methylation differences between both groups could contribute to explain the differences inWnt activit

Effectiveness of telephone monitoring in primary care to detect pneumonia and associated risk factors in patients with SARS-CoV-2

Improved technology facilitates the acceptance of telemedicine. The aim was to analyze the effectiveness of telephone follow-up to detect severe SARS-CoV-2 cases that progressed to pneumonia. A prospective cohort study with 2-week telephone follow-up was carried out March 1 to May 4, 2020, in a primary healthcare center in Barcelona. Individuals aged =15 years with symptoms of SARS-CoV-2 were included. Outpatients with non-severe disease were called on days 2, 4, 7, 10 and 14 after diagnosis; patients with risk factors for pneumonia received daily calls through day 5 and then the regularly scheduled calls. Patients hospitalized due to pneumonia received calls on days 1, 3, 7 and 14 post-discharge. Of the 453 included patients, 435 (96%) were first attended to at a primary healthcare center. The 14-day follow-up was completed in 430 patients (99%), with 1798 calls performed. Of the 99 cases of pneumonia detected (incidence rate 20.8%), one-third appeared 7 to 10 days after onset of SARS-CoV-2 symptoms. Ten deaths due to pneumonia were recorded. Telephone follow-up by a primary healthcare center was effective to detect SARS-CoV-2 pneumonias and to monitor related complications. Thus, telephone appointments between a patient and their health care practitioner benefit both health outcomes and convenience. © 2021 by the authors. Licensee MDPI, Basel, Switzerland

Accumulation of poly(A) RNA in nuclear granules enriched in Sam68 in motor neurons from the SMNA7 mouse model of SMA

Spinal muscular atrophy (SMA) is a severe motor neuron (MN) disease caused by the deletion or mutation of the survival motor neuron 1 (SMN1) gene, which results in reduced levels of the SMN protein and the selective degeneration of lower MNs. The best-known function of SMN is the biogenesis of spliceosomal snRNPs, the major components of the pre-mRNA splicing machinery. Therefore, SMN deficiency in SMA leads to widespread splicing abnormalities. We used the SMN?7 mouse model of SMA to investigate the cellular reorganization of polyadenylated mRNAs associated with the splicing dysfunction in MNs. We demonstrate that SMN deficiency induced the abnormal nuclear accumulation in euchromatin domains of poly(A) RNA granules (PARGs) enriched in the splicing regulator Sam68. However, these granules lacked other RNA-binding proteins, such as TDP43, PABPN1, hnRNPA12B, REF and Y14, which are essential for mRNA processing and nuclear export. These effects were accompanied by changes in the alternative splicing of the Sam68-dependent Bcl-x and Nrnx1 genes, as well as changes in the relative accumulation of the intron-containing Chat, Chodl, Myh9 and Myh14 mRNAs, which are all important for MN functions. PARG-containing MNs were observed at presymptomatic SMA stage, increasing their number during the symptomatic stage. Moreover, the massive accumulations of poly(A) RNA granules in MNs was accompanied by the cytoplasmic depletion of polyadenylated mRNAs for their translation. We suggest that the SMN-dependent abnormal accumulation of polyadenylated mRNAs and Sam68 in PARGs reflects a severe dysfunction of both mRNA processing and translation, which could contribute to SMA pathogenesis.This work was supported by grants from: “Dirección General de Investigación” of Spain (BFU2014-54754-P and SAF2015-70801-R, cofinanced by FEDER) and “Instituto de Investigación Marqués de Valdecilla-IDIVAL (NVAL17/22). Dr. Tapia is the recipient of a grant from SMA Europe and FundAME (Spain)

Quantitative nucleolar proteomics reveals nuclear re-organization during stress- induced senescence in mouse fibroblast

<p>Abstract</p> <p>Background</p> <p>Nucleolus is the most prominent mammalian organelle within the nucleus which is also the site for ribosomal biogenesis. There have been many reports indicating the involvement of nucleolus in the process of aging. Several proteins related to aging have been shown to localize in the nucleolus, which suggests the role of this organelle in senescence.</p> <p>Results</p> <p>In this study, we used quantitative mass spectrometry to map the flux of proteins into and out of the nucleolus during the induction of senescence in cultured mammalian cells. Changes in the abundance of 344 nucleolar proteins in sodium butyrate-induced senescence in NIH3T3 cells were studied by SILAC (stable isotope labeling by amino acids in cell culture)-based mass spectrometry. Biochemically, we have validated the proteomic results and confirmed that B23 (nucleophosmin) protein was down-regulated, while poly (ADP-ribose) polymerase (PARP) and nuclear DNA helicase II (NDH II/DHX9/RHA) were up-regulated in the nucleolus upon treatment with sodium butyrate. Accumulation of chromatin in the nucleolus was also observed, by both proteomics and microscopy, in sodium butyrate-treated cells. Similar observations were found in other models of senescence, namely, in mitoxantrone- (MTX) treated cells and primary fibroblasts from the Lamin A knockout mice.</p> <p>Conclusion</p> <p>Our data indicate an extensive nuclear organization during senescence and suggest that the redistribution of B23 protein and chromatin can be used as an important marker for senescence.</p

A Cell Cycle Role for the Epigenetic Factor CTCF-L/BORIS

CTCF is a ubiquitous epigenetic regulator that has been proposed as a master keeper of chromatin organisation. CTCF-like, or BORIS, is thought to antagonise CTCF and has been found in normal testis, ovary and a large variety of tumour cells. The cellular function of BORIS remains intriguing although it might be involved in developmental reprogramming of gene expression patterns. We here unravel the expression of CTCF and BORIS proteins throughout human epidermis. While CTCF is widely distributed within the nucleus, BORIS is confined to the nucleolus and other euchromatin domains. Nascent RNA experiments in primary keratinocytes revealed that endogenous BORIS is present in active transcription sites. Interestingly, BORIS also localises to interphase centrosomes suggesting a role in the cell cycle. Blocking the cell cycle at S phase or mitosis, or causing DNA damage, produced a striking accumulation of BORIS. Consistently, ectopic expression of wild type or GFP- BORIS provoked a higher rate of S phase cells as well as genomic instability by mitosis failure. Furthermore, downregulation of endogenous BORIS by specific shRNAs inhibited both RNA transcription and cell cycle progression. The results altogether suggest a role for BORIS in coordinating S phase events with mitosis

Nucleolus: the fascinating nuclear body

Nucleoli are the prominent contrasted structures of the cell nucleus. In the nucleolus, ribosomal RNAs are synthesized, processed and assembled with ribosomal proteins. RNA polymerase I synthesizes the ribosomal RNAs and this activity is cell cycle regulated. The nucleolus reveals the functional organization of the nucleus in which the compartmentation of the different steps of ribosome biogenesis is observed whereas the nucleolar machineries are in permanent exchange with the nucleoplasm and other nuclear bodies. After mitosis, nucleolar assembly is a time and space regulated process controlled by the cell cycle. In addition, by generating a large volume in the nucleus with apparently no RNA polymerase II activity, the nucleolus creates a domain of retention/sequestration of molecules normally active outside the nucleolus. Viruses interact with the nucleolus and recruit nucleolar proteins to facilitate virus replication. The nucleolus is also a sensor of stress due to the redistribution of the ribosomal proteins in the nucleoplasm by nucleolus disruption. The nucleolus plays several crucial functions in the nucleus: in addition to its function as ribosome factory of the cells it is a multifunctional nuclear domain, and nucleolar activity is linked with several pathologies. Perspectives on the evolution of this research area are proposed