Characterisation of construction materials: a chemical comparison of historical mortars

[EN] This text outlines the results obtained in a case study about construction materials analysis, concerning a set of watchtowers scattered throughout the territory of Cuenca Province, Spain. The complete understanding of these buildings has been possible thanks to different approaches. Territorial analysis, historic study, surveys and construction definition have been the key-factors of architectural research. But a good result could not be possible without a rigorous chemical study. Samples carried out on mortars from different watchtowers have been compared and analyzed. In this frame, a wide range of microanalysis methods has been applied to the samples (i.e. light microscopy, FTIR spectroscopy, scanning electron microscopy-X-ray, X-ray diffraction, granulometric analysis, insoluble residue) with the purpose of confirming the constructive homogeneity and technology of the buildings, as interesting examples of Spanish Christian Reconquest.This research has been made possible thanks to the Project “Trazabilidad Histórica Y Perspectivas Para Los Materiales Sostenibles Vinculados A La Tradición Constructiva De La Comunidad Valenciana” Ayudas GV 2014/014, Conselleriad’Educació, Cultura i Esport, GVA, main researcher V. Cristini.Ruiz Checa, JR.; Cristini ., V.; Valcuende Payá, MO.; Osete Cortina, L. (2015). Characterisation of construction materials: a chemical comparison of historical mortars. WIT Transactions on Engineering Sciences (Online). 90:83-94. https://doi.org/10.2495/MC150081S83949

Protocolo de farmacovigilancia del hospital santa teresita para la solución de reacciones adversas a los medicamentos

El presente documento presenta el desarrollo de una propuesta diseñada para el contextualizar el problema de una IPS la cual indica no contar con un programa de farmacovigilancia y de esta manera, plantea el desarrollo del papel de un regente en farmacia ante esta situación, para la elaboración de este trabajo se realizó una investigación profunda sobre los temas vistos a medida del curso donde se toma en cuenta diferentes escenas problema a los cuales nos podríamos enfrentar al momento de desempeñar nuestra labor como regentes ya que somos usuarios que manejan diferentes componentes químicos en un solo fármaco los cuales le estamos entregando a usuarios que confían en nuestro labor como profesionales , también saber la manera en la que podemos actuar antes diversos acontecimientos que en muchas ocasiones se nos pueden salir de las manos como es el caso de reacciones adversas ya sea por condición del paciente o medicación indebida , en cuanto a eso es importante tener no solo conocimientos básicos a cuanto a farmacoterapia sino también las diferentes leyes que nos abalan y nos protegen de estos diferentes sucesos .This document presents the development of a proposal designed to contextualize the problem of an IPS which indicates that it does not have a pharmacovigilance program and in this way, raises the development of the role of a pharmacy manager in this situation, for the elaboration From this work, an in-depth investigation was carried out on the topics seen as the course took into account different problem scenes that we could face when carrying out our work as regents since we are users who handle different chemical components in a single drug which we are delivering to users who trust our work as professionals, also knowing the way in which we can act before various events that on many occasions can get out of hand as is the case of adverse reactions either by condition of the patient or undue medication, in this regard it is important to have not only know basic knowledge in terms of pharmacotherapy but also the different laws that support and protect us from these different events

Preliminary Checklist of the Herpetofauna of the Gallery Forest and the Camoa River Sub-basin at El Caduceo Nature Reserve, San Martín, Meta, Colombia

Actualmente, en La Reserva Natural El Caduceo, San Martín, Meta, se han registrado cerca de 18 especies de anfibios y 27 de reptiles. Sin embargo, los registros existentes no son suficientes para determinar el estado de sus comunidades, lo que hace cada vez más difícil continuar con la labor de conservación y protección de estos organismos. Este trabajo buscó identificar de manera preliminar algunas de las familias y especies de herpetofauna asociadas a esta reserva natural tomando como referencia las unidades paisajísticas del bosque de galería y la subcuenca del río Camoa, las cuales han estado bajo presión de actividades antrópicas. Allí, se realizaron recorridos longitudinales y capturas directas en dos puntos de muestreo durante jornadas diurnas y nocturnas. Se registraron nueve especies de las familias Ranidae, Hylidae, Bufonidae, Testudinidae, Dipsadidae, Colubridae, Teiidae, Sphaerodactylidae y Gekkonidae. Además, se reporta por primera vez la presencia de geckos invasores del género Hemidactylus, por lo que se debe continuar con monitoreos sobre el estado actual de esta posible población invasora y su impacto sobre las poblaciones nativas, así como generar reportes sobre el estado de la comunidad de herpetofauna en esta zona, especialmente durante diferentes épocas del año.Nearly 18 species of amphibians and 27 species of reptiles have been reported at “Reserva Natural El Caduceo,” San Martín, Meta (Colombia). However, there are no sufficient reports to determine the state of these communities, which makes the conservation and protection efforts of these organisms harder to perform. This work preliminarily identified some of the associated families and species of amphibians and reptiles occurring at this natural reserve. We considered two landscape units that have been under the pressure of human activities: gallery forest and the Camoa river sub-basin. Surveys through longitudinal transects and direct observations were performed in two sample sites during day and night. We report nine species belonging to the families Ranidae, Hylidae, Bufonidae, Testudinidae, Dipsadidae, Colubridae, Teiidae, Sphaerodactylidae, and Gekkonidae. We also state the presence of invading geckos (genus Hemydactylus) and suggest continuous monitoring of the current state of this invading population and its impact on native populations. More reports on the state of amphibian and reptile fauna occurring in these sites are needed, especially during different seasons

Síndrome de Rapunzel asociado a perforación intestinal. Caso clínico

Introducción. Los tricobezoares ocurren de forma frecuente en niñas y adolescentes, y se asocian a trastornos psicológicos como depresión, tricotilomanía o tricofagia. Caso clínico. Se presenta una paciente adolescente con síndrome de Rapunzel, con hallazgo adicional de perforación yeyunal debido al tricobezoar. Discusión. Dentro de las complicaciones de los tricobezoares se reporta invaginación intestinal (principalmente de yeyuno), apendicitis, obstrucción biliar, neumonía, pancreatitis secundaria y perforación, esta última como ocurrió en nuestra paciente. Conclusión. En pacientes mujeres adolescentes con dolor abdominal o abdomen agudo, se debe tener en cuenta el diagnóstico de síndrome de Rapunzel, así como sus probables complicaciones

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

BackgroundWhole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/WGS diagnostic yield in rare disease patients. Most tools devoted to this aim take advantage of patient phenotype information for prioritization of genomic data, although are often limited by incomplete gene-phenotype knowledge stored in biomedical databases and a lack of proper benchmarking on real-world patient cohorts.MethodsWe developed ClinPrior, a novel method for the analysis of WES/WGS data that ranks candidate causal variants based on the patient's standardized phenotypic features (in Human Phenotype Ontology (HPO) terms). The algorithm propagates the data through an interactome network-based prioritization approach. This algorithm was thoroughly benchmarked using a synthetic patient cohort and was subsequently tested on a heterogeneous prospective, real-world series of 135 families affected by hereditary spastic paraplegia (HSP) and/or cerebellar ataxia (CA).ResultsClinPrior successfully identified causative variants achieving a final positive diagnostic yield of 70% in our real-world cohort. This includes 10 novel candidate genes not previously associated with disease, 7 of which were functionally validated within this project. We used the knowledge generated by ClinPrior to create a specific interactome for HSP/CA disorders thus enabling future diagnoses as well as the discovery of novel disease genes.ConclusionsClinPrior is an algorithm that uses standardized phenotype information and interactome data to improve clinical genomic diagnosis. It helps in identifying atypical cases and efficiently predicts novel disease-causing genes. This leads to increasing diagnostic yield, shortening of the diagnostic Odysseys and advancing our understanding of human illnesses

Puesta en marcha del curso on line “Envejecimiento y enfermedades neurodegenerativas” en la plataforma Miriadax

Este informe detalla los objetivos, actividades y métodos llevados a cabo durante la ejecución de un proyecto de innovación docente que tiene como objetivo implementar un curso online en abierto sobre las enfermedades neurodegenerativas y el envejecimiento

Descripción de las características psicológicas relacionadas con la salud mental en la situación de emergencia de salud pública originada por el Covid-19

La pandemia por el coronavirus ha afectado sustancialmente a toda la población, impactando negativamente múltiples aspectos de la vida humana, en lo físico, psicológico, económico, social y cultural. La investigación realizada ha buscado describir las características psicológicas relacionadas con la salud mental en la situación de emergencia de salud pública actual. A partir, de un estudio descriptivo que contó con la participación de 174 personas que presentan algún vínculo con la Universidad Cooperativa de Colombia. Para la recolección de la información se diseñó un cuestionario que permitió identificar las características sociodemográficas y clínicas de la muestra de estudio, el evento de interés: riesgo para presentar una alteración en salud mental, se estimó a partir del instrumento de tamizaje, Cuestionario de Síntomas Self-Reporting Questionnaire. Se concluyó que las condiciones sociodemográficas y económicas de la población analizada, así como, las medidas de aislamiento y cuarentena para prevenir la propagación de la pandemia, podrían constituir factores de riesgo o protectores para la aparición de trastornos mentales.The coronavirus pandemic has substantially affected the lives of the entire world population, affecting multiple aspects of human life, physically, psychologically, economically, socially and culturally. The research carried out has sought to describe the psychological characteristics related to mental health in the current public health emergency situation. Starting from a descriptive study that included the participation of 174 people who have some connection with the Universidad Cooperativa de Colombia. To collect the information, a questionnaire was designed to identify the sociodemographic and clinical characteristics of the study sample. The event of interest: risk to present an alteration in mental health, was estimated from the screening instrument, Symptom Questionnaire. Self-Reporting Questionnaire. It was concluded that the sociodemographic and economic conditions of the analyzed population, as well as the isolation and quarantine measures to prevent the spread of the pandemic, could constitute risk or protective factors for the appearance of mental disorder.1. Resumen. -- 2. Abstract -- 3. Introducción. -- 4. Planteamiento y formulación del problema. -- 5. Justificación. -- 6. Objetivos de la investigación. -- 7. Marco referencial. -- 8. Marco teórico. -- 9. La salud mental, evolución del concepto.-- 10. Principales síndromes de salud mental -- 11. Ansiedad -- 12. Depresión -- 13. El estrés postraumático -- 14. Factores que influyen en la salud mental -- 15. Factores genéticos. -- 16. Factores psicosociales. -- 17. La salud menta l y la naturaleza biopsicosocial del ser humano. -- 18. Marco legal. -- 19. Diseño metodológico. -- 20. Proceso investigativo. -- 21. Población y muestra. -- 22. Técnicas en instrumentos de recolección de la información y sistematización. -- 23. Consideraciones éticas. -- 24. Resultados. -- 25. Discusión. -- 26. Conclusiones. -- 27. Bibliografía. -- 28. Anexos. -- 29. Cronograma. -- 30. Cuestionario de caracterización sociodemográfica y clínica. -- 31. Cuestionario de síntomas self-reporting questionnaire (Srq)

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give rise to neurological or developmental phenotypes. PI4KA is a phosphoinositide kinase that is highly expressed in the brain and is essential for life. Here we used whole exome or genome sequencing to identify 10 unrelated patients harbouring biallelic variants in PI4KA that caused a spectrum of conditions ranging from severe global neurodevelopmental delay with hypomyelination and developmental brain abnormalities to pure spastic paraplegia. Some patients presented immunological deficits or genito-urinary abnormalities. Functional analyses by western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells. In conclusion, we report a novel severe metabolic disorder caused by PI4KA malfunction, highlighting the importance of phosphoinositide signalling in human brain development and the myelin sheath

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

Background and Objectives Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the clinical utility of singleton whole-exome sequencing and whole-genome sequencing (sWES-WGS) interpreted with a phenotype- and interactome-driven prioritization algorithm to diagnose GWMD while identifying novel phenotypes and candidate genes. Methods A case series of patients of all ages with undiagnosed GWMD despite extensive standard-of-care paraclinical studies were recruited between April 2017 and December 2019 in a collaborative study at the Bellvitge Biomedical Research Institute (IDIBELL) and neurology units of tertiary Spanish hospitals. We ran sWES and WGS and applied our interactome-prioritization algorithm based on the network expansion of a seed group of GWMD-related genes derived from the Human Phenotype Ontology terms of each patient. Results We evaluated 126 patients (101 children and 25 adults) with ages ranging from 1 month to 74 years. We obtained a first molecular diagnosis by singleton WES in 59% of cases, which increased to 68% after annual reanalysis, and reached 72% after WGS was performed in 16 of the remaining negative cases. We identified variants in 57 different genes among 91 diagnosed cases, with the most frequent being RNASEH2B, EIF2B5, POLR3A, and PLP1, and a dual diagnosis underlying complex phenotypes in 6 families, underscoring the importance of genomic analysis to solve these cases. We discovered 9 candidate genes causing novel diseases and propose additional putative novel candidate genes for yet-to-be discovered GWMD. Discussion Our strategy enables a high diagnostic yield and is a good alternative to trio WES/WGS for GWMD. It shortens the time to diagnosis compared to the classical targeted approach, thus optimizing appropriate management. Furthermore, the interactome-driven prioritization pipeline enables the discovery of novel disease-causing genes and phenotypes, and predicts novel putative candidate genes, shedding light on etiopathogenic mechanisms that are pivotal for myelin generation and maintenance

Epstein-Barr-virus-positive large B-cell lymphoma associated with breast implants: an analysis of eight patients suggesting a possible pathogenetic relationship.

Breast implant anaplastic large cell lymphoma (ALCL) is a T-cell neoplasm arising around textured breast implants that was recognized recently as a distinct entity by the World Health Organization. Rarely, other types of lymphoma have been reported in patients with breast implants, raising the possibility of a pathogenetic relationship between breast implants and other types of lymphoma. We report eight cases of Epstein-Barr virus (EBV)-positive large B-cell lymphoma associated with breast implants. One of these cases was invasive, and the other seven neoplasms were noninvasive and showed morphologic overlap with breast implant ALCL. All eight cases expressed B-cell markers, had a non-germinal center B-cell immunophenotype, and were EBV+ with a latency type III pattern of infection. We compared the noninvasive EBV+ large B-cell lymphoma cases with a cohort of breast implant ALCL cases matched for clinical and pathologic stage. The EBV+ large B-cell lymphoma cases more frequently showed a thicker capsule, and more often were associated with calcification and prominent lymphoid aggregates outside of the capsule. The EBV+ B-cell lymphoma cells were more often arranged within necrotic fibrinoid material in a layered pattern. We believe that this case series highlights many morphologic similarities between EBV+ large B-cell lymphoma and breast implant ALCL. The data presented suggest a pathogenetic role for breast implants (as well as EBV) in the pathogenesis of EBV+ large B-cell lymphoma. We also provide some histologic findings useful for distinguishing EBV+ large B-cell lymphoma from breast implant ALCL in this clinical setting