Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described. Variable penetrance and intrafamilial variability have been demonstrated including severe prenatal phenotypes. Thus, it is important to differentiate this entity from others with similar clinical features and perform confirmatory molecular diagnosis. Methods: This study reports the results of HNF1B screening in a cohort of 60 patients from 58 unrelated families presenting with renal structural anomalies and/or non-immune glucose metabolism alterations, and other minor features suggesting HNF1B mutations. Results: This study identified a pathogenic variant in 23 patients from 21 families. The most frequent finding was bilateral cystic dysplasia or hyperechogenic kidneys (87% of patients). Sixty percent of them also fulfilled the criteria for impaired glucose metabolism, and these were significantly older than those patients with an HNF1B mutation but without diabetes or prediabetes (14.4 versus 3.3years, P<0.05). Furthermore, patients with HNF1B mutations had higher frequency of pancreatic structural anomalies and hypomagnesaemia than patients without mutations (P<0.001 and P = 0.003, respectively). Hyperuricaemia and increased liver enzymes were detected in some patients as well. Conclusions: Renal anomalies found in patients with HNF1B mutations are frequently unspecific and may resemble those found in other renal pathologies (CAKUT, ciliopathies). Active searching for extrarenal minor features, especially pancreatic structural anomalies or hypomagnesaemia, could support the indication for molecular diagnosis to identify HNF1B mutations

Novel genes and sex differences in COVID-19 severity

Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10−8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10−22 and P = 8.1 × 10−12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10−8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10−8) and ARHGAP33 (P = 1.3 × 10−8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10−8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.Instituto de Salud Carlos III (COV20_00622 to A.C., COV20/00792 to M.B., COV20_00181 to C.A., COV20_1144 to M.A.J.S., PI20/00876 to C.F.); European Union (ERDF) ‘A way of making Europe’. Fundación Amancio Ortega, Banco de Santander (to A.C.), Estrella de Levante S.A. and Colabora Mujer Association (to E.G.-N.) and Obra Social La Caixa (to R.B.); Agencia Estatal de Investigación (RTC-2017-6471-1 to C.F.), Cabildo Insular de Tenerife (CGIEU0000219140 ‘Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19’ to C.F.) and Fundación Canaria Instituto de Investigación Sanitaria de Canarias (PIFIISC20/57 to C.F.)

Diseño e implementación de la estructura de riesgos para el proceso de inversión en una entidad sin ánimo de lucro: E.S.E. Hospital Nazareth Quinchía Risaralda

Se presenta una propuesta de inversión para instituciones sin ánimo de lucro en el cual se tiene en cuenta la estructura de riesgos, que abarca la definición del perfil del riesgo del inversionista, identificación de los excedentes reales susceptibles de ser invertidos y finalmente se analiza las diferentes opciones que ofrece el mercado según la rentabilidad esperada vs el riesgo que se asume, para esto se utilizan diferentes métodos partiendo de una estructura de riesgos lo que permite determinar la estrategia que más se acomode al perfil del inversionista -- El análisis se realiza tomando como marco de referencia una Empresa Social del Estado (E.S.E.), el Hospital Nazareth de Quinchía Risaralda, institución dedicada a la prestación de servicios de salud,a la comunidad en general, y cuyos excedentes han sido invertidos en entidades que ofrecen el mínimo riesgo -- La propuesta abarca el estudio de diferentes alternativas de inversión que incluyan entre otras, carteras colectivas, multifondos, TES y títulos de renta variable, lo cual permite analizar una amplia gama de opciones para tener la posibilidad de diversificar el portafolio, propuesta que se construye al final una vez se realizó el análisis de todas estas variables y se presentó la más recomendada para la institución en estudio, de manera que se cumpla con los requisitos establecidos por los estamentos de la Entidad y los directivos de la misma quienes finalmente tienen la potestad de tomar la decisión de invertir o no en el portafolio recomendad

Las primeras vistas de Málaga en el XVI: fuentes gráficas para la investigación

Architecture and urban planning should contribute to urban progress by preserving the fragile values of inherited landscapes, integrating the old and the new. It is thus essential to investigate the transformations of each site has undergone, using graphic sources and checking their reliability. The case of the first views of Malaga in the 16th century is discussed here. Apart from reviewing symbolic representations of little documentary value, the views drawn by Anton van den Wyngaerde in 1564 and the one published in Civitates Orbis Terrarum in 1572 are analyzed; all of which provide exceptional testimonies of a landscape transformed through the centuries.La arquitectura y el urbanismo deben contribuir al progreso urbano preservando los frágiles valores de los paisajes heredados, integrando lo viejo y lo nuevo. Para ello resulta esencial investigar la evolución de cada lugar, usando fuentes gráficas y cotejando su fiabilidad. Aquí se aborda el caso de las primeras vistas de Málaga en el siglo XVI. Tras citar representaciones simbólicas de escaso valor documental, se analiza la elaboración de las vistas de Anton van den Wyngaerde en 1564 y de la vista publicada en el Civitates Orbis Terrarum en 1572, que aportan excepcionales testimonios de un paisaje transformado durante siglos

Object-based semi-automatic approach for forest structure characterization using lidar data in heterogeneous Pinus sylvestris stands.

In this paper, we present a two-stage approach for characterizing the structure of Pinus sylvestris L. stands in forests of central Spain. The first stage was to delimit forest stands using eCognition and a digital canopy height model (DCHM) derived from lidar data. The polygons were then clustered (k-means algorithm) into forest structure types based on the DCHMdata within forest stands. Hypsographs of each polygon and field data validated the separability of structure types. In the study area, 112 polygons of Pinus sylvestris were segmented and classified into five forest structure types, ranging from high dense forest canopy (850 trees ha_1 and Lorey´ s height of 17.4 m) to scarce tree coverage (60 tree ha_1 and Lorey´ s height of 9.7 m). Our results indicate that the best variables for the definition and characterization of forest structure in these forests are the median and standard deviation (S.D.), both derived from lidar data. In these forest types, lidar median height and standard deviation (S.D.) varied from 15.8 m (S.D. of 5.6 m) to 2.6 m (S.D. of 4.5 m). The present approach could have an operational application in the inventory procedure and forest management plans

Ectomycorrhizal fungi with hydrophobic mycelia and rhizomorphs dominate in young pine trees surviving experimental drought stress

Mycorrhizal fungi can help plants to cope with drought, but research on the fungal communities that are more resistant to drought or alleviate drought stress of trees is still scarce. In this study, we investigated effects of drought on soil fungal communities and explored potential fungal traits related to drought resistance under greenhouse conditions. We manipulated water availability in pine seedlings belonging to three Spanish Pinus pinaster populations from geographical areas subjected to contrasting summer drought. A set of plant ecophys-iological traits were quantified and soil fungi was quantified and profiled using ergosterol and Pacific Biosciences sequencing. Abundance of ectomycorrhizal (ECM) fungi in plants subjected to drought was lower than in well-watered plants. Most ECM taxa in plants surviving drought had long exploration types and were taxa typically forming rhizomorphs and hydrophobic mycelia. By contrast, ECM taxa in well-watered plants had wider range of distinct exploration types. No differences in fungal communities were found among P. pinaster populations. No associations between ECM fungi and plant ecophysiological traits were found, but significant interactions be-tween drought treatments and belowground plant biomass were found for the relative abundances of ECM fungi, particularly ECM with long exploration types. Plants subjected to drought may benefit by associating to ECM taxa previously shown to transport water efficiently.L.S. and R.Z. acknowledge support from Ministerio de Economía y Competitividad/FEDER Grants FUTURPIN AGL2015-68274-C3-2-R, RESILPIN RTI2018-094691-B-C33 and Xunta de Galicia-GAIN grant IN607/2021/03. J.O. was supported by a Ramón y Cajal fellowship (RYC-2015-17459) and J.A.B. was supported by the Serra-Hunter Program-Generalitat de Catalunya

Effect of Income Level and Perception of Susceptibility and Severity of COVID-19 on Stay-at-Home Preventive Behavior in a Group of Older Adults in Mexico City

Early information on public health behaviors adopted to prevent the spread of coronavirus (COVID-19) may be useful in controlling the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) transmission. The objective of this study was to assess the role of income level (IL) and the perception of older adults, regarding COVID-19 susceptibility and severity, on adopting stay-at-home preventive behavior during the first week of the outbreak in Mexico. Participants in this cross-sectional study were urban community dwellers, aged ≥ 65 years from Mexico City. A total of 380 interviews were conducted over the phone. The mean respondent age was 72.9 years, and 76.1% were women. Over half (54.2%) of the participants perceived their susceptibility to COVID-19 as very low or low. Similarly, 33.4% perceived COVID-19 severity as being very low or low, and 57.6% had decided to stay at home: this behavior was associated with IL (β = 1.05, p < 0.001), and its total effect was partially mediated (15.1%) by perceived severity. Educational attainment was also associated with staying at home (β = 0.10, p = 0.018) and its total effect was partially mediated (15.0%) by perceived susceptibility. Interventions aimed at low income and less educated older adults should be developed to improve preventive behaviors in this vulnerable group during the COVID-19 pandemic

Ensayo metodológico de planificación física de una autovía en el Estado Miranda (Venezuela)

La planificación física con base ecológica es fundamental para desarrollar el potencial ambiental y humano de un territorio. Sin embargo, en numerosas áreas de Latinoamérica hay carencias de información territorial que dificultan estos procedimientos. En esta línea, se ha realizado un ensayo metodológico de una planificación física de una autovía hipotética. Para ello se han realizado modelos en SIG (Sistemas de Información Geográfica) de capacidad territorial, riesgos, calidad, fragilidad e impacto ambiental, que se han integrado en una síntesis de planificación territorial. El objetivo final ha sido modelizar un mapa de impedancia o fricción frente a la autovía, para aplicar un algoritmo cost distance / cost path y obtener un trazado de autovía que optimizase la capacidad del territorio y minimizase el impacto ambiental. Se ha consolidado un aprendizaje y una primera transferencia I + D dirigida a la gestión territorial y a la toma de decisiones para diversos países de Latinoamérica