Abstract: The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, growth and cognitive impairment. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), are responsible for ∼70% of CdLS cases. We describe a 16-year-old boy with facial dysmorphism, growth retardation, intellectual disability, hirsutism and small hands, who has a small Supernumerary Marker Chromosome (sSMC) present in mosaic form. sSMC is composed of two duplicated segments encompassing 17 genes including SMC1A gene, at the regions Xp11.22 and Xp11.21q11.1. Clinical comparison between our patient with a previously reported individual with a SMC1A duplication and four male carriers of similar sSMC reported in databases, suggest that they all share clinical features related to cohesinopathies. Although our patient does not have the classical CdLS craniofacial phenotype, he has pre and postnatal growth retardation, intellectual disability and mild musculoskeletal anomalies, features commonly seen in patients with cohesinopathies.

Abstract: This paper investigates the combined failure mode of the Extended Hollo-Bolt (EHB) and the effect of the column thickness on the tensile behaviour of the blind fastener. A three-dimensional Finite Element (FE) model was developed, validated against experimental data and used in a parametric study. The non-linear numerical model, which simulates a single row of two EHB in tension, presents reliable results of the column and bolt failure modes in agreement with experimental data. It is concluded that the failure mode is first controlled by the plastic resistance of the component limited by concrete the bolt. An analytical model which predicts the global force-displacement relationships when varying the column thickness is proposed. Therefore, the stiffness and the strength behaviours of this combined mode of failure for the studied blind fastener can be estimated. Resumen: Este artículo investiga el modo de falla combinado del Extended Hollo-Bolt (EHB) y el efecto del espesor de la columna en el comportamiento de tracción del tornillo ciego. Se desarrolló un modelo tridimensional de elementos finitos (FE), que se validó con datos experimentales y se utilizó en un estudio paramétrico. El modelo numérico no lineal, que simula una sola fila de dos EHBs en tensión, presenta resultados confiables de los modos de falla de la columna y el tornillo de acuerdo con los datos experimentales. Se concluye que el modo de falla se controla primero por la resistencia plástica del componente limitada por la falla del concreto junto con la deformación de la sección tubular de acero; luego es controlado por las propiedades del tornillo. Se propone un modelo analítico que predice la relación fuerza-desplazamiento global cuando se varía el espesor de la columna. Por lo tanto, se pueden estimar los comportamientos de rigidez y resistencia de este modo combinado de falla para el tornillo ciego estudiado.

Abstract: Using the theoretical-methodological perspective based on experience frameworks, this paper aims at analyzing and understanding the way in which organizations communicate aspects that are related to occupational safety and health. In this sense, we carry out an analysis of the narratives related to this topic and propose a diagnosis mechanism to subjectively measure the burden of the regulatory, strategic, and moral frameworks of these narratives. A panel of Latin American experts applied a three-round Delphi analysis on five case studies in Colombia to illustrate how this mechanism works. In addition to the use of a robust research paradigm, this work contributes by proposing a scheme capable of presenting the motivations and interests of occupational safety and health professionals in perspective, finding imbalances in the way relevant information is transmitted through official messages and channels. Therefore, its use is susceptible to study in this and other areas of knowledge of the organizational discipline, and its adoption could be worthwhile in order to generate more and better knowledge in this regard. Resumen: Haciendo uso de la perspectiva teórico-metodológica basada en los marcos de la experiencia, el presente trabajo tiene como propósito analizar y entender la forma en la que, usualmente, se comunican los aspectos relacionados con la seguridad y la salud en el trabajo en el contexto organizacional. En este sentido, se despliega un análisis sobre las narrativas propias de esta temática y se propone un mecanismo de diagnóstico para medir subjetivamente la carga de los marcos reglamentario, estratégico y moral de dichas narrativas. Un análisis Delphi de tres rondas aplicado por un panel de expertos latinoamericanos sobre cinco casos de estudio en Colombia ilustra la manera en la que el mecanismo en mención puede funcionar. Adicional al uso de un paradigma investigativo robusto, el trabajo contribuye, toda vez que propone un esquema capaz de exponer en perspectiva, las motivaciones y los intereses de los profesionales de la seguridad y salud en el trabajo, encontrando desequilibrios en cuanto a la forma de transmitir información relevante por medio de mensajes y canales oficiales. Por tanto, su uso es susceptible de estudio en esta y otras áreas del conocimiento de la disciplina organizacional, y su adopción podría valer la pena en aras de generar más y mejor conocimiento al respecto.

Abstract: The present work studies the engagement of prosocial behavior as an antecedent of affective commitment within for-profit organizations. In order to accomplish this, the work focuses on the role of positive feelings. It tests a partial least square-structural equation model using a cross-sectional survey of 144 professional employees from several Colombian industries. Results obtained show that prosocial behavior is associated with affective commitment, but only with the intervention of meaningfulness at work. These associations provide insight into professional employees’ attitudes towards the search for intrinsic motivation and engagement in for-profit organizational environments. Further implications revolve around the justification for working on practices that not only found and foster prosocial behavior in the workplace but also promote skill variety, task identity, and task meaningfulness to obtain adequate levels of engagement and commitment. Finally, since most studies have been conducted in developed countries, this study also contributes to a better understanding of the topic in previously unexplored contexts. In this case, a Latin American emerging economy, like Colombia. Resumen: El presente trabajo estudia el comportamiento prosocial como un antecedente, tanto del trabajo significativo como del compromiso afectivo en el contexto de las organizaciones con fines de lucro. Para ello, el trabajo se enfoca en el papel de los sentimientos positivos y prueba un modelo de ecuaciones estructurales basado en mínimos cuadrados parciales, a partir de la aplicación transversal de un instrumento a 144 empleados profesionales de varias industrias en Colombia. Los resultados obtenidos muestran que el comportamiento prosocial está asociado con el compromiso afectivo, pero solo gracias la intervención de la experiencia de tener un trabajo significativo. Estas asociaciones proporcionan conocimiento sobre las actitudes de los empleados profesionales hacia la búsqueda de la motivación intrínseca y la participación en entornos organizacionales con fines de lucro. Las implicaciones giran en torno a la justificación para trabajar en prácticas gerenciales que no solo encuentran y fomentan el comportamiento prosocial en el lugar de trabajo, sino que también promuevan la variedad de habilidades, la identidad de la tarea y la significancia de la tarea para obtener niveles adecuados de responsabilidad y compromiso. Finalmente, dado que la mayoría de los estudios se han realizado en países desarrollados, este estudio también contribuye a una mejor comprensión del tema en contextos previamente inexplorados; en este caso, una economía en vías de desarrollo, como la colombiana.

Abstract: Botulism is caused by a potent neurotoxin that blocks neuromuscular transmission, resulting in death by asphyxiation. Currently, the therapeutic options are limited and there is no antidote. Here, we harness the structural and trafficking properties of an atoxic derivative of botulinum neurotoxin (BoNT) to transport a function-blocking single-domain antibody into the neuronal cytosol where it can inhibit BoNT serotype A (BoNT/A1) molecular toxicity. Post-symptomatic treatment relieved toxic signs of botulism and rescued mice, guinea pigs, and nonhuman primates after lethal BoNT/A1 challenge. This platform might enable delivery of antibodies and other protein-based therapeutics to previously inaccessible intraneuronal targets. Resumen: El botulismo es causado por una potente neurotoxina que bloquea la transmisión neuromuscular, provocando la muerte por asfixiamiento. Actualmente, las opciones de tratamiento son limitadas y no existe un antídoto. En este artículo aprovechamos las propiedades estructurales y de tráfico neuronal de un derivado atóxico de la neurotoxina botulínica (BoNT) para transportar un anticuerpo que bloquea la función al citosol neuronal, donde puede inhibir la toxicidad molecular del serotipo A de la BoNT (BoNT /A1). El tratamiento post-sintomático alivió los signos tóxicos del botulismo y rescató de la muerte a ratones, conejillos de indias y primates no humanos después de la exposición letal a BoNT / A1. Esta plataforma podría permitir la administración de anticuerpos y otros terapéuticos basados en proteínas a blancos intraneuronales que previamente eran inaccesibles.

Abstract: The use of phytoextraction plant species to accumulate soil metals into harvestable plant parts is a method used for managing soils with high cadmium (Cd). We evaluated three Cd accumulating species recently recommended for such use in cacao farms where Cd removal is needed to maintain markets: Helianthus annuus (sunflower), Brassica napus (rapeseed), and Chyrsopogon zizanioides (vetiver). Plants were grown in two greenhouse pot experiments with different Cd-spiked growth media: (sand plus perlite) and a natural soil. Plant total Cd and Cd uptake in shoot biomass of all species, across both experiments, increased linearly with increasing amounts of added Cd. Rapeseed had the highest plant total Cd and sunflower had the highest Cd uptake in shoot biomass. The highest application of Cd corresponded to the highest plant total Cd and shoot biomass Cd uptake, regardless of species. The bioconcentration factor (BCF) for each species increased in a curvilinear manner with added Cd, with maximum BCF values for plants grown in the sand and perlite matrix at 2.5 mg kg-1 added Cd and in the natural soil at 5.0 mg kg-1 added Cd. We conclude that the Cd uptake (shoot biomass only) capability of the three species examined is greatest for sunflower given its increased uptake with Cd additions, its BCF value > 1, and lack of observed visual Cd toxicity symptoms, fungus and insect damage. Although these species had BCF >1, the potential annual removal of Cd would have been too small to support a meaningful phytoextraction practice. Resumen: El uso de especies de plantas de fitoextracción para acumular metales del suelo en partes de plantas cosechables es un método utilizado para manejar suelos con alto contenido de cadmio (Cd). Evaluamos tres especies acumuladoras de Cd recomendadas recientemente para tal uso en fincas de cacao donde se necesita remoción de Cd para mantener los mercados: Helianthus annuus (girasol), Brassica napus (colza) y Chyrsopogon zizanioides (vetiver). Las plantas se cultivaron en dos experimentos en macetas de invernadero con diferentes medios de crecimiento enriquecidos con Cd: (arena más perlita) y un suelo natural. La absorción total de Cd y Cd de la planta en la biomasa de brotes de todas las especies, en ambos experimentos, aumentó linealmente con cantidades crecientes de Cd agregado. La colza tuvo el mayor Cd total de la planta y el girasol tuvo la mayor absorción de Cd en la biomasa de los brotes. La mayor aplicación de Cd correspondió a la mayor absorción de Cd total de la planta y de la biomasa de brotes, independientemente de la especie. El factor de bioconcentración (FBC) para cada especie aumentó de manera curvilínea con Cd agregado, con valores máximos de FBC para plantas cultivadas en la matriz de arena y perlita a 2.5 mg kg-1 de Cd agregado y en el suelo natural a 5.0 mg kg-1 añadido Cd. Concluimos que la capacidad de absorción de Cd (solo biomasa de brotes) de las tres especies examinadas es mayor para el girasol debido a su mayor absorción con adiciones de Cd, su valor de FBC> 1 y la falta de síntomas de toxicidad visual de Cd, hongos e insectos observados. Aunque estas especies tenían FBC> 1, la posible eliminación anual de Cd habría sido demasiado pequeña para sustentar una práctica de fitoextracción significativa.

Abstract: This paper examines how the development of digital infrastructure shapes organizations. Drawing on four case studies across the global payment infrastructure, we explain the development of digital infrastructure and organization as taking place through three causal development mechanisms—namely, architectural, institutional, and functional. Each mechanism reveals a distinct development path of digital infrastructure based on the shaping of structure, the shaping of behavior, and the shaping of services. Furthermore, we outline how each development path is mediated by the other two mechanisms and propose six consequent propositions. The contribution of the study lies in presenting a conceivable explanation for the nested evolutionary paths in the development of digital infrastructure and organization.

Abstract: Mixed microbial cultures have become a preferred choice of biocatalyst for chain elongation systems due to their ability to convert complex substrates into medium chain carboxylates. However, the complexity of the effects of process parameters on the microbial metabolic networks is a drawback that makes the task of optimizing product selectivity challenging. Here, we studied the effects of small air contaminations on the microbial community dynamics and the product formation in anaerobic bioreactors fed with lactate, acetate and H2/CO2. Two stirred tank reactors and two bubble column reactors were operated with H2/CO2 gas recirculation for 139 and 116 days, respectively, at pH 6.0 and 32°C with a hydraulic retention time of 14 days. One reactor of each type had periods with air contamination (between 97 ± 28 and 474 ± 33 mL O2 L−1 d−1, lasting from 4 to 32 days), while the control reactors were kept anoxic. During air contamination, production of n-caproate and CH4 was strongly inhibited, whereas no clear effect on nbutyrate production was observed. In a period with detectable O2 concentrations that went up to 18%, facultative anaerobes of the genus Rummeliibacillus became predominant and only n-butyrate was produced. However, at low air contamination rates and with O2 below the detection level, Coriobacteriia and Actinobacteria gained a competitive advantage over Clostridia and Methanobacteria, and propionate production rates increased to 0.8–1.8 mmol L−1 d−1 depending on the reactor (control reactors 0.1–0.8 mmol L−1 d−1). Moreover, i-butyrate production was observed, but only when Methanobacteria abundances were low and, consequently, H2 availability was high. After air contamination stopped completely, production of n-caproate and CH4 recovered, with n-caproate production rates of 1.4–1.8 mmol L−1 d−1 (control 0.7–2.1 mmol L−1 d−1). The results underline the importance of keeping strictly anaerobic conditions in fermenters when consistent n-caproate production is the goal. Beyond that, micro-aeration should be further tested as a controllable process parameter to shape the reactor microbiome. When odd-chain carboxylates are desired, further studies can develop strategies for their targeted production by applying micro-aerobic conditions.

Abstract: Fluid storage capacity measurements of core plugs in the laboratory consider pore volume as a function of effective stress. The latter is equal to applied confining pressure – n × applied pore pressure. However, the results are often reported as a function of difference in the applied pressures, because the effective stress coefficient (n) is an unknown. This creates confusion during the interpretation of laboratory data and leads to added uncertainties in the analysis of the storage capacity of the samples under in-situ conditions. In this paper, we present a new laboratory method that allows simultaneous prediction of the sample pore volume, the coefficient of isothermal pore compressibility, and the effective stress coefficient. These quantities are necessary to predict the fluid storage as a function of effective stress. The method requires two stages of gas (helium) uptake by the sample under confining pressure and pore pressure and measures pressure-volumedata. Confining pressure is always kept larger than the equilibrium pore pressure, but their values at each stage are changed arbitrarily. The analysis is simple and includes simultaneous solutions of two algebraic equations including the measured pressurevolumedata. The model is validated by taking the reference pore volume near zero stress. The reference volume predicted matches with that measured independently using the standard helium porosimeter. For sandstone, shale, and carbonate samples, the estimated pore compressibility is, on average, 10−6 psi−1. The effective stress coefficient is higher than unity and is a linear function of the ratio of the applied pressure values. We present a new graphical method that predicts the Biot coefficient (α) of the rock sample, a fundamental quantity used during the strain calculations that indicates the tendency of the rock to deform volumetrically. A new fundamental rule is found between the applied pressure difference and the effective stress: σe/α = pc − pp. Interestingly, the predicted Biot coefficient values for the shale samples show values between 0.46 and 1.0. This indicates that features of the shale sample, such as mineral variability, fine-scale lamination, and fissility, come into play during the fluid storage measurements. Resumen: Las mediciones de capacidad de almacenamiento de fluidos en tapones de núcleo en el laboratorio consideran el volumen poroso como una función del esfuerzo efectiva. Esta última, es igual a la presión de confinamiento aplicada - n × presión de poro aplicada. Sin embargo, los resultados a menudo se reportan como función de la diferencia en las presiones aplicadas, porque el coeficiente de esfuerzo efectivo (n) es desconocido. Esto crea confusión durante la interpretación de los datos de laboratorio y genera incertidumbres adicionales en el análisis de la capacidad de almacenamiento de las muestras en condiciones in situ. Resumen: En este artículo, presentamos un nuevo método de laboratorio que permite la estimación simultánea del volumen poroso de la muestra, el coeficiente de compresibilidad de poro isotérmico y el coeficiente de esfuerzo efectivo. Estas cantidades son necesarias para predecir el almacenamiento de fluido en función del esfuerzo efectivo. El método requiere dos etapas de absorción de gas (helio) por la muestra bajo presión de confinamiento y presión de poro y mide los datos de presión-volumen. La presión de confinamiento siempre se mantiene mayor que la presión de poro de equilibrio, pero sus valores en cada etapa pueden cambiar arbitrariamente. El análisis es simple e incluye soluciones simultáneas de dos ecuaciones algebraicas, incluidos los datos de presión-volumen medidos. El modelo se valida tomando el volumen de poro de referencia cerca de la tensión cero. El volumen de referencia estimado coincide con el medido de forma independiente utilizando un porosímetro de helio estándar. Para las muestras de arenisca, lutita y carbonato, la compresibilidad de poro estimada es, en promedio, 10−6 psi − 1. El coeficiente de esfuerzo efectivo es mayor a la unidad y es una función lineal de la relación de los valores de presión aplicados. Presentamos un nuevo método gráfico que predice el coeficiente de Biot (α) de la muestra de roca, una cantidad fundamental utilizada durante los cálculos de deformación que indica la tendencia de la roca a deformarse volumétricamente. Se encuentra una nueva relación fundamental entre la diferencia de presión aplicada y el esfuerzo efectivo: σe / α = pc - pp. Curiosamente, los valores del coeficiente de Biot estimado para las muestras de lutitas muestran valores entre 0,46 y 1,0. Esto indica que las características de la muestra de lutita, como la variabilidad mineral, la laminación a escala fina y la fisibilidad, entran en juego durante las mediciones de almacenamiento de fluidos.

Abstract: Colombia’s development model based on economic growth has favoured nature exploitation and unequitable power relations over rural land. This has led to violent conflicts, land disposition, migratory dynamics and poverty, which has delayed rural development. Colombian rural regions are characterized by limited access to political, social, and economic resources, poor basic services, detriment on cultural and environmental values, as well as undervalued traditional productivity activities and life style; in sum, they have limited development opportunities and capabilities. In turn, the country’s decentralized planning system undermines territorial comprehensiveness, urban/rural articulation and rural sustainable development. Limitations and contradictions caused by overlaps and gaps amongst governmental levels, laws and decrees, which goes hand in hand with urban-oriented planning policies that have undermined rural development, environmental sustainability and social well-being. Within this context, the signing of the Peace Treaty of 2016 gave origin to new trends and revalued rural Colombia as the privileged space for peace making. Therefore, the country is in the process of reconsidering rurality not only as land for agriculture or nature exploitation, but also as a space for community opportunities and the protection of nature. In order to comprehend rural development models and planning limitations and contradictions for rural and territorial development in Colombia, this work proposes a conceptual approach on the basis of theories on development, rural development, rurality and political ecology. A state of the art of current history of political and economic conflicts over rural land and the evaluation of the planning systems are presented in this thesis in order to orient planning perspectives for policy transformation and to search for urban and rural development alternatives. The review of various international examples of nature exploitation unveils links between the exploitation of nature and the potentials of spatial development. The analysis of Colombia’s region Casanare shows how critical aspects caused by fast-growing demographic and economic dynamics due to extractivist industries, which have generated unjust resource distribution and planning decisions, have impaired rural development and social improvement. Based on evidence on these variables, recommendations to reorient planning policies for rural and regional development alternatives in Colombia will be provided. This dissertation proposes alternatives, redefining objectives and spatial planning principles centred on nature- mankind relationships that can also be internationally applicable.