Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.Fil: Sarrión, P.. Universidad de Barcelona; EspañaFil: Sangorrin, A.. Hospital Sant Joan de Déu; EspañaFil: Urreizti, R.. Universidad de Barcelona; EspañaFil: Delgado, María Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba; ArgentinaFil: Artuch, R.. Hospital Sant Joan de Déu; EspañaFil: Martorell, L.. Hospital Sant Joan de Déu; EspañaFil: Armstrong, J.. Hospital Sant Joan de Déu; EspañaFil: Anton, J.. Hospital Sant Joan de Déu; EspañaFil: Torner, F.. Hospital Sant Joan de Déu; EspañaFil: Vilaseca, M. A.. Hospital Sant Joan de Déu; EspañaFil: Nevado, J.. Hospital Universitario La Paz; EspañaFil: Lapunzina, P.. Hospital Universitario La Paz; EspañaFil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba; Argentina. Universidad Católica de Córdoba; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Balcells, S.. Universidad de Barcelona; EspañaFil: Grinberg, D.. Universidad de Barcelona; Españ

Influence of the electric field on the latent heat of the ferroelectric phase transition in KDP

The specific heat, heat flux (DTA trace) and dielectric constant of KDP ferroelectric crystal have been measured simultaneously for various electric fields with a conduction calorimeter. The specific heat presents a strong anomaly but these simultaneous measurements allow us to evaluate the latent heat accurately. Latent heat decreases with field and the value of critical electric field --that where latent heat disappears-- is estimated to be (0.44\pm0.03) kV/cm. Incidentally, we have measured simultaneously the dielectric permittivity which suggests that latent heat is developed as domains are growing.Comment: 7 pages, 6 figures, ReVTeX, twocolumn format, to appear in J. Phys. Cond. Matte

Literature review of measurement techniques forthe studyof sitting posture

Con el objetivo de encontrar una técnica de medida que permita estudiar la postura sedente, se realizó la siguiente revisión sistemática. La búsqueda fue realizada en bases de datos especializadas en el área en estudio. Las palabras clave de la búsqueda incluyeron términos como low back pain, sitting posture, pelvic tilt, entre otras. 2383 artículos fueron seleccionados de acuerdo a la pregunta de revisión planteada y de éstos 228 a partir de los criterios de inclusión establecidos. Se lograron encontrar 17 artículos que permiten identificar las técnicas apropiadas para el estudio de esta postura. La revisión permitió proponer una guía para seleccionar una herramienta que evalúe la postura sedente, con base en las prestaciones que el instrumento ofrece para cumplir con los objetivos del estudio que se desee realizar.Aiming to find a measurement technique that allows studying the seated posture, we conducted the following systematic review. The search was made in specialized databases in the study area. The key words of the search included terms such as low back pain, sitting posture, pelvic tilt, among others. 2383 items were selected according to the review question proposed and these 228 from established inclusion criteria. They were found 17 items that allow you to identify the appropriate techniques for the stance study. The revision allowed proposing a guide for selecting a tool to evaluate the seated posture based on the benefits offered by the instrument to comply with the objectives of the study that you want to perform

Restoration of microRNA-214 expression reduces growth of myeloma cells through positive regulation of P53 and inhibition of DNA replication

This is an open-access paper.-- et al.MicroRNA have been demonstrated to be deregulated in multiple myeloma. We have previously reported that miR-214 is down-regulated in multiple myeloma compared to in normal plasma cells. The functional role of miR- 214 in myeloma pathogenesis was explored by transfecting myeloma cell lines with synthetic microRNA followed by gene expression profiling. Putative miR-214 targets were validated by luciferase reporter assay. Ectopic expression of miR-214 reduced cell growth and induced apoptosis of myeloma cells. In order to identify the potential direct target genes of miR-214 which could be involved in the biological pathways regulated by this microRNA, gene expression profiling of the H929 myeloma cell line transfected with precursor miR-214 was carried out. Functional analysis revealed significant enrichment for DNA replication, cell cycle phase and DNA binding. miR- 214 directly down-regulated the expression of PSMD10, which encodes the oncoprotein gankyrin, and ASF1B, a histone chaperone required for DNA replication, by binding to their 3'-untranslated regions. In addition, gankyrin inhibition induced an increase of P53mRNA levels and subsequent up-regulation of CDKN1A (p21Waf1/Cip1) and BAX transcripts, which are direct transcriptional targets of p53. In conclusion, MiR-214 functions as a tumor suppressor in myeloma by positive regulation of p53 and inhibition of DNA replication.This work was partially supported by the Spanish FIS (PI080568 and PS0901897), the >Gerencia Regional de Salud, Junta de Castilla y León> (GRS202/A08 and GRS 702/A/11), and the Spanish Myeloma Network Program (RD06/0020/0006). MES is supported by the Ministerio de Sanidad y Consumo (CA08/00212).Peer Reviewe

Alpha band disruption in the AD-continuum starts in the subjective cognitive decline stage: a MEG study

The consideration of Subjective Cognitive Decline (SCD) as a preclinical stage of AD remains still a matter of debate. Alpha band alterations represent one of the most significant changes in the electrophysiological profile of AD. In particular, AD patients exhibit reduced alpha relative power and frequency. We used alpha band activity measured with MEG to study whether SCD and MCI elders present these electrophysiological changes characteristic of AD, and to determine the evolution of the observed alterations across AD spectrum. The total sample consisted of 131 participants: 39 elders without SCD, 41 elders with SCD and 51 MCI patients. All of them underwent MEG and MRI scans and neuropsychological assessment. SCD and MCI patients exhibited a similar reduction in alpha band activity compared with the no SCD group. However, only MCI patients showed a slowing in their alpha peak frequency compared with both SCD and no SCD. These changes in alpha band were related to worse cognition. Our results suggest that AD-related alterations may start in the SCD stage, with a reduction in alpha relative power. It is later, in the MCI stage, where the slowing of the spectral profile takes place, giving rise to objective deficits in cognitive functioning.This study was supported by two projects from the Spanish Ministry of Economy and Competitiveness, PSI2009-14415-C03-01 and PSI2012-38375-C03-01, a predoctoral fellowship from the Ministry of Economy and Competitiveness to DLS (PSI2012-38375-C03-01), and three predoctoral fellowships from the Ministry of Education to RB,NS,ICRR (FPU13/06009, FPU14/07164, FPU13/02064)

Variability estimation in resistive switching devices, a numerical and kinetic Monte Carlo perspective

Acknowledgments The authors thank the support of the Spanish Ministry of Science, Innovation and Universities and the FEDER program through projects TEC2017-84321-C4-1-R, TEC2017-84321-C4-3-R, and projects A.TIC.117.UGR18, IE2017-5414 and B.TIC.624.UGR20 funded by the Consejería de Conocimiento, Investigación y Universidad, Junta de Andalucía (Spain) and the FEDER program. Funding for open access charge: Universidad de Granada/CBUAWe have analyzed variability in resistive memories (Resistive Random Access Memories, RRAMs) making use of advanced numerical techniques to process experimental measurements and simulations based on the kinetic Monte Carlo technique. The devices employed in the study were fabricated using the TiN/Ti/HfO2/W stack. The switching parameters were obtained making use of new developed extraction methods. The appropriateness of the advanced parameter extraction methodologies has been checked by comparison to kinetic Monte Carlo simulations; in particular, the reset and set events have been studied and detected. The data obtained were employed to shed light on the resistive switching operation and the cycle-to-cycle variability. It has been shown that variability depends on the numerical technique employed to obtain the set and reset voltages, therefore, this issue must be taken into consideration in RS characterization and modeling studies. The proposed techniques are complementary and depending on the technology and the curves shape the features of a particular method could make it to be the most appropriate.Spanish Ministry of Science, Innovation and Universities and the FEDER program through projects TEC2017-84321-C4-1-R, TEC2017-84321-C4-3-RConsejería de Conocimiento, Investigación y Universidad, Junta de Andalucía (Spain) and the FEDER program, projects A.TIC.117.UGR18, IE2017-5414 and B.TIC.624.UGR20Funding for open access charge: Universidad de Granada/CBU

Beneficial effects of essential oils from the mediterranean diet on gut microbiota and their metabolites in ischemic heart disease and type-2 diabetes mellitus

[Abstract] Ischemic heart disease (IHD) and type-2 diabetes mellitus (T2DM) remain major health problems worldwide and commonly coexist in individuals. Gut microbial metabolites, such as trimethylamine N-oxide (TMAO) and short-chain fatty acids (SCFAs), have been linked to cardiovascular and metabolic diseases. Previous studies have reported dysbiosis in the gut microbiota of these patients and the prebiotic effects of some components of the Mediterranean diet. Essential oil emulsions of savory (Satureja hortensis), parsley (Petroselinum crispum) and rosemary (Rosmarinus officinalis) were assessed as nutraceuticals and prebiotics in IHD and T2DM. Humanized mice harboring gut microbiota derived from that of patients with IHD and T2DM were supplemented with L-carnitine and orally treated with essential oil emulsions for 40 days. We assessed the effects on gut microbiota composition and abundance, microbial metabolites and plasma markers of cardiovascular disease, inflammation and oxidative stress. Our results showed that essential oil emulsions in mice supplemented with L-carnitine have prebiotic effects on beneficial commensal bacteria, mainly Lactobacillus genus. There was a decrease in plasma TMAO and an increase in fecal SCFAs levels in mice treated with parsley and rosemary essential oils. Thrombomodulin levels were increased in mice treated with savory and parsley essential oils. While mice treated with parsley and rosemary essential oils showed a decrease in plasma cytokines (INFɣ, TNFα, IL-12p70 and IL-22); savory essential oil was associated with increased levels of chemokines (CXCL1, CCL2 and CCL11). Finally, there was a decrease in protein carbonyls and pentosidine according to the essential oil emulsion. These results suggest that changes in the gut microbiota induced by essential oils of parsley, savory and rosemary as prebiotics could differentially regulate cardiovascular and metabolic factors, which highlights the potential of these nutraceuticals for reducing IHD risk in patients affected by T2DM.Junta de Andalucía; PI-0170-2018Instituto de Salud Carlos III; PT20/00101Junta de Andalucía; RH-0078-2021Instituto de Salud Carlos III; CPII19/00022Instituto de Salud Carlos III; FI20/0022