Oral manifestations of ellis-van creveld syndrome. A rare case report

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is an autosomal recessive disorder, characterized by dwarfism, polydactyly, hypoplastic fingernails and congenital heart defects, finding in most of the cases orofacial anomalies. We describe a clinical case of a 9 year old male patient diagnosed with EVC who visited our Maxillofacial private consultation at Alcorcon Southern Hospital, presenting typical oral manifestations such as dental agenesis, delayed eruption, hypoplasia of the enamel, dental dysmorphism, taurodontism and supernumerary teeth. EVC syndrome is a rare disease and requires a multidisciplinary approach. Oral features are constant and requires the jointly performance of Odontologist and Maxillofacial surgeon aiming to get an appropriate treatment sequence surgery-orthodontics in order to achieve a suitable functional result to improve the quality of life of these patients

Five-year atmospheric corrosion of cu, cr and ni weathering steels in a wide range of environments

This work considers fourteen weathering steels manufactured by adding Cu, Cr and Ni alloying elements to extra mild steel. The steels were exposed for up to 5 years in different atmospheres. The atmospheric corrosion resistance of the steels was evaluated and the rust layers formed were characterised by X-ray diffraction, optical microscopy and scanning electron microscopy. The addition of Ni, particularly at 3.0 wt%, leads to a notable increase in corrosion resistance. The rusts formed contain lepidocrocite, goethite and spinel phases. X-ray diffraction also detected small amounts of kornelite (industrial atmosphere) and akaganeite (marine atmosphere)

HER-2: Un marcador molecular usado en el diagnóstico, pronóstico y tratamiento del cáncer de mama

La expresión de receptores proporciona información fundamental para el diagnóstico y el tratamiento en pacientes con cáncer de mama. Cerca del 20 al 30% de los cánceres de mama sobreexpresan el receptor HER2 como resultado de la amplificación de la región cromosómica 17q12-21, el cual está asociado con subtipos agresivos y con sobrevidas bajas. Un diagnóstico preciso del estado de HER2 es fundamental debido a su relación al tratamiento con trastuzumab (Herceptin®) y otros medicamentos. Para el diagnóstico se han diseñado varias técnicas, las cuales determinan el estado de HER2 en tejidos tumorales, tales como Inmunohistoquímica (IHQ) e Hibridización In situ (ISH, por sus siglas en inglés). Algunos de los resultados obtenidos por IHQ son catalogados como no concluyentes, por ello se ha planteado la IHQ como prueba de detección primaria seguida por una prueba ISH confirmatoria.

HER-2: Un marcador molecular usado en el diagnóstico, pronóstico y tratamiento del cáncer de mama

La expresión de receptores proporciona información fundamental para el diagnóstico y el tratamiento en pacientes con cáncer de mama. Cerca del 20 al 30% de los cánceres de mama sobreexpresan el receptor HER2 como resultado de la amplificación de la región cromosómica 17q12-21, el cual está asociado con subtipos agresivos y con sobrevidas bajas. Un diagnóstico preciso del estado de HER2 es fundamental debido a su relación al tratamiento con trastuzumab (Herceptin®) y otros medicamentos. Para el diagnóstico se han diseñado varias técnicas, las cuales determinan el estado de HER2 en tejidos tumorales, tales como Inmunohistoquímica (IHQ) e Hibridización In situ (ISH, por sus siglas en inglés). Algunos de los resultados obtenidos por IHQ son catalogados como no concluyentes, por ello se ha planteado la IHQ como prueba de detección primaria seguida por una prueba ISH confirmatoria.

Multi‑omic alterations of the SWI/SNF complex define a clinical subgroup in lung adenocarcinoma

PPM's lab is funded by the Ministry of Economy of Spain (SAF2015-67919-R), Junta de Andalucia (P20-00688, PI-0135-2020, PIGE-0213-2020, PIGE-04402019, PI-0245-2017), University of Granada (B-CTS-480-UGR20), International Association for the Study of Lung Cancer (IASLC), and Spanish Association for Cancer Research (LAB-AECC-2018). PP is supported by a PhD "La Caixa Foundation"LCF/BQ/DE15/10360019 Fellowship. AA is supported by an FPU17/00067 fellowship. IFC was supported by a PhD FPI-fellowship (BES-2013-064596). DJG was supported by a "Fundacion Benefica Anticancer Santa Candida y San Francisco Javier"predoctoral fellowship. MSBC and CC's work is supported by the project DPI2017-84439-R Ministry of Economy of Spain and FEDER and by the fellowship "Beca de Iniciacion a la Investigacion del Plan Propio de Investigacion 2019" by University of Granada. MSBC is supported by an FPU19/00576 predoctoral fellowship. CNIO Proteomics Unit is a member of Proteored PRB3 and is supported by grant PT17/0019, of the PE I + D + i 2013-2016, funded by ISCIII and ERDF.SWI/SNF complexes are major targets of mutations in cancer. Here, we combined multiple “-omics” methods to assess SWI/SNF composition and aberrations in LUAD. Mutations in lung SWI/SNF subunits were highly recurrent in our LUAD cohort (41.4%), and over 70% of the mutations were predicted to have functional impact. Furthermore, SWI/ SNF expression in LUAD suffered an overall repression that could not be explained exclusively by genetic alterations. Finally, SWI/SNF mutations were associated with poorer overall survival in TCGA-LUAD. We propose SWI/SNF-mutant LUAD as a separate clinical subgroup with practical implications.Spanish Government SAF2015-67919-R DPI2017-84439-RJunta de Andalucia P20-00688 PI-0135-2020 PIGE-0213-2020 PIGE-0440-2019 PI-0245-2017University of Granada B-CTS-480-UGR20International Association for the Study of Lung Cancer (IASLC)Spanish Association for Cancer Research LAB-AECC-2018La Caixa Foundation LCF/BQ/DE15/10360019PhD FPI-fellowship BES-2013-064596"Fundacion Benefica Anticancer Santa Candida y San Francisco Javier" predoctoral fellowshipEuropean Commissionfellowship "Beca de Iniciacion a la Investigacion del Plan Propio de Investigacion 2019" by University of Granada Instituto de Salud Carlos III PT17/0019European Commission PT17/0019 FPU17/00067 FPU19/0057

Effects of virtual reality associated with serious games for upper limb rehabilitation inpatients with multiple sclerosis: randomized controlled trial

Background: Dexterity and activities of daily living limitations on the upper limb (UL) represent one of the most common problems in patients with multiple sclerosis (MS). The aim of this study was to evaluate the effectiveness of the specially developed Serious Games that make use of the Leap Motion Controller (LMC) as main user interface for improving UL grip muscle strength, dexterity, fatigue, quality of life, satisfaction and compliance. Methods: A single-blinded randomized controlled trial was conducted. The sample was randomized into two groups: an experimental group who received treatment based on serious games designed by the research team using the developed LMC based Serious Games for the UL plus conventional rehabilitation, and a control group who received the same conventional rehabilitation for the UL. Both groups received two 60 min sessions per week over a ten-week period. Grip muscle strength, coordination, speed of movements, fine and gross UL dexterity, fatigue, quality of life, satisfaction and compliance were assessed in both groups pre-treatment, post-treatment and in a follow-up period of 1 month without receiving any treatment. Results: In the experimental group compared to the control group, significant improvements were observed in the post-treatment assessment for coordination, speed of movements, fine and gross UL dexterity. Also, significant results were found in the follow-up in coordination, speed of movements, fine and gross for the more affected side. Conclusions: An experimental protocol using an LMC based Serious Games designed for UL rehabilitation showed improvements for unilateral gross manual dexterity, fine manual dexterity, and coordination in MS patients with high satisfaction and excellent compliance. Trial registration: This randomized controlled trial has been registered at ClinicalTrials.gov Identifier: NCT04171908, Nov 2019.The research leading to these results has received funding from the ROBOHEALTH-A project (DPI2013-47944-C4-1-R) funded by the Spanish Ministry of Economy and Competitiveness

La Imagen y la Narrativa como Herramientas para el Abordaje Psicosocial en Escenarios de Violencia. Departamento de Cundinamarca

Este documento muestra la indagación o análisis de un evento psicosocial traumático vivido, a través del relato de Ana Ligia López, quien fue víctima varias veces de desplazamientos forzados, en el corregimiento de Aquitania en el año de 2004. Como producto de este análisis se identificaron una serie de impactos psicosociales que se suscitaron dentro del contexto de la protagonista del relato y del posicionamiento subjetivo de ser sobreviviente a una tragedia de tal magnitud; adicionalmente, se realiza la formulación de un conjunto de preguntas estratégicas, circulares y reflexivas, que complementan al análisis de este caso. Reincorporación a la vida civil, Articulo 20 de la ley (782 del 2002). Posteriormente, se expone una serie de reflexiones sobre los eventos traumáticos que vividos los pobladores de la comunidad de Pandurí en el año de 2003, en cuanto a la tortura y asesinatos cometidos por grupos armados a varios de sus líderes e integrantes la comunidad y con base en esto, se expone la formulación sobre la forma en cómo debe realizarse el abordaje psicosocial a esta comunidad, a través de estrategias de acompañamiento psicosocial. Por último, se hace la presentación de un informe grupal, reflexivo, analítico, sobre las experiencias captadas en la foto voz, este se encuentra enmarcado en distintos territorios con un marco de violencia en la capital del País.This document shows the analysis of a traumatic psychosocial event, through the story of Ana Ligia López, who was a victim of forced displacement, in the town of Aquitania in 2004. As a result of this analysis, a series of impacts were identified psychosocial that arose within the context of the protagonist of the story and the subjective position of being a survivor of a tragedy of such magnitude. Additionally, the Formulation of a series of strategic, circular and reflective questions is presented, in addition to the analysis of this case. Subsequently, a series of reflections on the traumatic events that the inhabitants of the municipality of Pandurí lived through in 2003, regarding the torture and murders committed by an armed group outside the law, to several of its leaders and members of this community and based on this, the formulation on how to carry out the psychosocial approach to this community is exposed, through psychosocial support strategies. Finally, the analytical and reflective report is presented on the photovoice experience, which is framed in different scenarios of violence in the city of Bogotá. Key words. Victims of the Armed Conflict, Psychosocial Accompaniment, Coping Resources, Psychosocial Strategies

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

International audienceAbstractBackgroundCerebellar atrophy and developmental delay are commonly associated features in large numbers of genetic diseases that frequently also include epilepsy. These defects are highly heterogeneous on both the genetic and clinical levels. Patients with these signs also typically present with non-specific neuroimaging results that can help prioritize further investigation but don’t suggest a specific molecular diagnosis.MethodsTo genetically explore a cohort of 18 Egyptian families with undiagnosed cerebellar atrophy identified on MRI, we sequenced probands and some non-affected family members via high-coverage whole exome sequencing (WES; >97 % of the exome covered at least by 30x). Patients were mostly from consanguineous families, either sporadic or multiplex. We analyzed WES data and filtered variants according to dominant and recessive inheritance models.ResultsWe successfully identified disease-causing mutations in half of the families screened (9/18). These mutations are located in seven different genes, PLA2G6 being the gene most frequently mutated (n = 3). We also identified a recurrent de novo mutation in the KIF1A gene and a molybdenum cofactor deficiency caused by the loss of the start codon in the MOCS2A open-reading frame in a mildly affected subject.ConclusionsThis study illustrates the necessity of screening for dominant mutations in WES data from consanguineous families. Our identification of a patient with a mild and improving phenotype carrying a previously characterized severe loss of function mutation also broadens the clinical spectrum associated with molybdenum cofactor deficiency

Genotype, environment and their interaction on olive

Resumen del trabajo presentado en la 6th International Conference on the Olive Tree and Olive Products, celebrada en Sevilla (España) del 15 al 19 de octubre de 2018.The wide olive genetic patrimony has revealed high variability for most of the agronomic and oil quality traits of interest in olive growing. Few studies, however, have addressed the interaction of this variability with the environment, a subject of particular interest considering the natural high instability of the Mediterranean climate and the challenge of the predicted climate change. The current work presents results on the interaction between genotype and environment from multi-environment trials of olive cultivars and breeding selections, planted in different edaphoclimatic conditions of Andalusia, Southern Peninsular Spain and Canary Islands. For most of the agronomic and oil quality characters evaluated (flowering phenology, flower quality, pattern of oil accumulation, fatty acid composition and phenol content and composition), significant genotype and environment effects have been observed. For example, olive cultivars grown in Tenerife under much milder winter temperatures than in the Iberian Peninsula showed substantially earlierflowering and oil accumulation. Only in the case of flowering phenology was no significant genotype effect found. Furthermore, a strong genotype x environment effect was highly consistent in all characters considered. Regarding resistance to disease, such as Verticillium wilt, the variability of results from both natural and artificial inoculations also tends to indicate a considerable environmental effect and the need for careful testing of disease evolution. All this information strongly suggests the necessity of comparative trials of olive cultivars for both adequate choice of cultivar and final selection in breeding programs

Energy Estimation of Cosmic Rays with the Engineering Radio Array of the Pierre Auger Observatory

The Auger Engineering Radio Array (AERA) is part of the Pierre Auger Observatory and is used to detect the radio emission of cosmic-ray air showers. These observations are compared to the data of the surface detector stations of the Observatory, which provide well-calibrated information on the cosmic-ray energies and arrival directions. The response of the radio stations in the 30 to 80 MHz regime has been thoroughly calibrated to enable the reconstruction of the incoming electric field. For the latter, the energy deposit per area is determined from the radio pulses at each observer position and is interpolated using a two-dimensional function that takes into account signal asymmetries due to interference between the geomagnetic and charge-excess emission components. The spatial integral over the signal distribution gives a direct measurement of the energy transferred from the primary cosmic ray into radio emission in the AERA frequency range. We measure 15.8 MeV of radiation energy for a 1 EeV air shower arriving perpendicularly to the geomagnetic field. This radiation energy -- corrected for geometrical effects -- is used as a cosmic-ray energy estimator. Performing an absolute energy calibration against the surface-detector information, we observe that this radio-energy estimator scales quadratically with the cosmic-ray energy as expected for coherent emission. We find an energy resolution of the radio reconstruction of 22% for the data set and 17% for a high-quality subset containing only events with at least five radio stations with signal.Comment: Replaced with published version. Added journal reference and DO