Estudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1

Se describe la variante homocigota c.320-2A>G de TGM1 en dos hermanas con ictiosis congénita autosómica recesiva. El clonaje de los transcritos generados por esta variante permitió identificar tres mecanismos moleculares de splicing alternativos.

Handgrip strength cut-off for cardiometabolic risk index among Colombian children and adolescents : the FUPRECOL study

Abstract Objective: Evidence shows an association between muscular strength (MS) and health among youth, however low muscular strength cut-points for the detection of high metabolic risk in Latin-American populations are scarce. The aim of this study was two-fold: to explore potential age- and sex-specific thresholds of MS, for optimal cardiometabolic risk categorization among Colombian children and adolescents; and to investigate if cardiometabolic risk differed by MS group by applying the receiver operating characteristic curve (ROC) cut point. Methods: This is a secondary analysis of a cross-sectional study (the FUPRECOL study), published elsewhere. The FUPRECOL study assessments were conducted during the 2014– 2015 school year. MS was estimated by a handle dynamometer on 1,950 children and adolescents from Colombia, using the MS relative to weight (handgrip strength/body mass). A metabolic risk score was computed from the following components: waist circumference, triglycerides, HDL-c, glucose, systolic and diastolic blood pressure. ROC analysis showed a significant discriminatory accuracy of MS in identifying the low/high metabolic risk in children and adolescents and both gender. Results: In children, handgrip strength/body mass level for a low metabolic risk were 0.359 and 0.376 in girls and boys, respectively. In adolescents, these points were 0.440 and 0.447 in girls and boys, respectively. Conclusion: In conclusion, the results suggest a hypothetical MS level relative to weight for having a low metabolic risk, which could be used to identify youths at risk.

Caracterización paraclínica de trabajadores con patologías respiratorias de un centro de referencia neumológico, Bucaramanga, 2014-2016

Introducción: La enfermedad respiratoria ocupacional es causada por la exposición a diferentes agentes en el trabajo. Las pruebas objetivas realizadas en sospecha de enfermedad respiratoria de origen laboral, son importantes herramientas que permiten realizar un adecuado diagnóstico, una detección precoz de la enfermedad respiratoria ocupacional, disminuye el progreso rápido de la patología, la morbilidad de los trabajadores y el impacto negativo sobre su futuro laboral. Objetivo: Caracterizar las pruebas paraclínicas de las patologías respiratorias de trabajadores, en un centro de referencia neumológico de Bucaramanga año 2014-2016. Materiales y métodos: Se realizó un estudio descriptivo retrospectivo con datos secundarios de 96 trabajadores que laboran en diferentes actividades económicas. Se incluyeron variables sociodemográficas, laborales, ayudas imagenológicas y pruebas de función pulmonar, realizando 3 grupos de acuerdo a su patología que fueron: Asma, síndrome de disfunción reactiva de la vía aérea y neumoconiosis. En el análisis estadístico se emplearon medidas de tendencia central y dispersión. Resultados: De los 96 trabajadores 84.4% son hombres, las actividades económicas más frecuentes fueron la industria del petróleo y gas en un 27.1% y trabajadores en materiales de construcción en un 19.8%. En la caracterización paraclínica por grupo de patología, para asma predominó la obstrucción en la espirometría (46.9%) y los volúmenes pulmonares con atrapamiento aéreo (95.5%), en RADS (síndrome de disfunción de vías aéreas reactivas) los volúmenes pulmonares con atrapamiento aéreo (77%) y en las neumoconiosis para Rx de tórax (90.3%) y Tac de tórax (100%) reportaron alteraciones parenquimatosas, espirometría con obstrucción (54.8%) y volúmenes pulmonares con atrapamiento aéreo (62.5 %).Discusión y Conclusiones: Las ocupaciones de mayor riesgo para desarrollo de neumopatías de origen ocupacional fuero, , son la minería y construcción y para asma la agricultura y manufacturas. Para asma se evidenció que no hay significancia diagnóstica para estudios imagenológicos pero sí para las pruebas de función pulmonar. Para neumoconiosis el estudio imagenológico es el de mayor importancia ya que en las radiografías se presentan cambios incluso mucho antes de la afectación de la función pulmonar. Para RADS se concluyó que la realización de un test de provocación con metacolina sería el Gold estándar para el diagnóstico. Las pruebas de función respiratoria son de vital importancia para determinar la enfermedad ocupacional en trabajadores expuestos para vigilancia y detección precoz, es conveniente la realización de protocolos para la evaluación y diagnóstico de la enfermedad respiratoria de origen ocupacional. Palabras claves: Neumoconiosis, asma ocupacional, función pulmonar, radiografía de tórax, ocupación, Colombia.

Niveles de actividad física en escolares de instituciones distritales de Bogotá, Colombia.

Objetivo: Estimar los niveles de actividad física (AF) de escolares de básica primaria durante el recreo, a través del uso del Sistema de Observación de Juego y Tiempo Libre en niños. Metodología: Estudio descriptivo transversal. Cinco instituciones educativas de la localidad de Engativá de Bogotá participaron en el presente estudio. Se contó con una muestra a conveniencia de 2.415 escolares (1.093 niñas y 1.322 niños), los cuales cursaban de 2º a 5º de primaria. Se realizaron 261 observaciones en 87 áreas determinadas. La muestra presentó una confiabilidad del 95%. Resultados: El tiempo de recreo fue de 30 minutos, los niños mostraron mayores porcentajes de AF con respecto a las niñas, sin embargo no se encontraron asociaciones estadísticamente significativas (p=0,506). Las áreas eran totalmente accesibles y utilizables, pero ausentes de actividades organizadas. Se encontró un bajo nivel de AF 9,5% en áreas supervisadas. De los escolares; el 22,5% para niñas, y el 20,6% para niños, tuvieron comportamientos sedentarios durante el recreo. Menos del 15% de los escolares realizaron AF vigorosa en el recreo y un mayor porcentaje 62,8% para niñas vs 64,6% para niños realizaron AF moderada. Conclusión: Los escolares acumularon una cantidad valiosa de AF moderada y vigorosa durante el recreo. Es probable que se aumente el nivel de AF, si el patio de la escuela está equipado y con actividades organizadas. Es esencial que las estrategias específicas se estudien y evalúen para determinar cómo y en qué medida se fomenta la AF entre los escolares.

Tracking the Origin of a Rabbit Haemorrhagic Virus 2 Outbreak in a Wild Rabbit Breeding Centre in Portugal; Epidemiological and Genetic Investigation

As key prey, the wild rabbit downsize constitutes a major drawback on the endangered Iberian lynx (Lynx pardinus) re-introduction in the Iberia. Several captive breeding units mostly located in Alentejo, endeavour the wild rabbit repopulation of depleted areas assigned for the lynx re-introduction. Here we report an RHDV2 outbreak that occurred in early 2016 in a wild rabbit captive breeding unit located in Barrancos municipality. The estimated mortality rate between March and April 2016 was approximately 8.67%. Anatomopathologic examination was carried out for 13 victimized rabbits. Molecular characterization was based on the complete vp60 capsid gene. The 13 rabbit carcasses investigated showed typical macroscopic RHD lesions testing positive to RHDV2- RNA. Comparison of the vp60 nucleotide sequences obtained from two specimens with others publically available disclosed similarities below 98.22% with RHDV2 strains originated in the Iberia and Azores and revealed that the two identical strains from Barrancos-2016 contain six unique single synonymous nucleotide polymorphisms. In the phylogenetic analysis performed, the Barrancos-2016 strains clustered apart from other known strains, meaning they may represent new evolutionary RHDV2 lineages. No clear epidemiological link could be traced for this outbreak where the mortalities were lower compared with previous years. Yet, network analysis suggested a possible connection between the missing intermediates from which the strains from Barrancos 2013, 2014 and 2016 have derived. It is therefore possible that RHDV2 has circulated endemically in the region since 2012, with periodic epizootic occurrences. Still, six years after its emergence in wild rabbits, RHDV2 continues to pose difficulties to the establishment of natural wild rabbit populations that are crucial for the self-sustainability of the local ecosystems.

Estudo Geoarqueológico de Georradar e Magnetometria no Povoado do Outeiro do Circo (Mombeja, Beja)

O presente trabalho tem como objecti- vo mostrar os resultados preliminares do estudo de prospecção geoarqueológica realizado no povoado do Outeiro do Circo. O trabalho consistiu no cruzamen- to de dois métodos de prospecção geofísica: georradar e magnetometria. Para concretizar o objectivo da missão realizaram-se ensaios dos dois métodos em áreas dis- tintas. O processamento dos dados registados permitiu identificar estruturas enterradas, interpretadas como vestígios da muralha que rodeava o povoado e de edifíci- os que terão existido no seu interior. Essas estruturas serão em breve confirmadas pelas escavações arque- ológicas em curso.

Reasonableness in European and Chinese Contract Law. A Comparative Law Study

Contemporary private law, in teh last few decades, TEMPhas been increasingly characterized by teh spread of general clauses and standards and by teh growing role of interpreters in teh framework of teh sources of law. dis process TEMPhas also consistently effected those systems dat are not typically centered on judge-made law. In particular in contract law general clauses and standards has assumed a leading role and has become protagonists of processes of integration and harmonization of teh law. Wifin dis context, teh reasonableness clause TEMPhas come to teh attention of scholars, emerging as a new element of connection between different legal systems -first of all between common law and civil law – and even between different legal traditions. dis research aims at reconstructing teh patterns of emersion and evolution of teh TEMPprincipal of reasonableness in contract law both wifin European Union Law and in teh Chinese legal system, in order to identify evolutionary trends, processes of emersion and circulation of legal models and teh scope of operation of teh TEMPprincipal in teh two contexts. In view of teh increasingly intense economic relations between Europe and China, wifin teh framework of teh new project called Belt and Road Initiative, a comparative survey of dis type can foster mutual understanding and make communications more TEMPeffective, at teh level of legal culture and commercial relations, and to support teh processes of supranational harmonization of contract law rules.

Language, action, and sensoriality: a multimodal analysis of interactions in inclusive sport climbing with visually impaired athletes

In sport climbing, athletes with vision impairments are constantly accompanied by their guides – usually trainers – both during the preparatory inspection of the routes and whilst climbing. Trainers are, so to speak, the climbers’ eyes, in the sense that they systematically put their vision in the service of the climbers’ mobility and sporting performance. The synergy between trainers and athletes is based on peculiar, strictly multimodal interactive practices that are focused on the body and on its constantly evolving sensory engagement with the materiality of routes. In this context, sensory perception and embodied actions required to plan and execute the climb are configured as genuinely interactive accomplishments. Drawing on the theoretical framework of Embodied and Situated Cognition and on the methodology of Conversation Analysis, this thesis engages in the multimodal analysis of trainer-athlete interactions in paraclimbing. The analysis is based on a corpus of video recorded climbing sessions. The major findings of the study can be summarized as follows. 1) Intercorporeality is key to interactions between trainers and athletes with visual impairments. The participants orient to perceiving the climbing space and acting in it as a ‘We’. 2) The grammar, lexicon, prosody, and timing of the trainers’ instructions are finely tuned to the ongoing corporeal experience of the climbers. 3) Climbers with visual impairments build their actions by using sensory resources that are provided by their trainers. This result is of particular importance as it shows that resources and constraints for action are in a fundamental way constituted in interaction with Others and with specific socio-material ecologies, rather than being defined a priori by the organs and functions of individuals’ body and mind. Individual capabilities are thus enhanced and extended in interaction, which encourages a more ecological view of (dis)ability.

O PAPEL DA COMUNICAÇÃO FACE A FACE NAS ORGANIZAÇÕES NO CONTEXTO DA SOCIEDADE MIDIATIZADA

Este estudo trata da comunicação face a face nas organizações sob diferentes abordagens teóricas. Considera a perspectiva da simultaneidade dos meios, já que as empresas utilizam diversos canais para dialogar com seus públicos de interesse. Leva em conta o fenômeno da midiatização, que reestrutura o modo como as pessoas se relacionam na sociedade contemporânea. O objetivo geral da pesquisa é sistematizar papeis potencialmente exercidos pela interação face a face e conhecer algumas circunstâncias que envolvem sua prática nas organizações. Por se tratar de uma tese teórica, a pesquisa bibliográfica se apresenta como um dos principais procedimentos metodológicos; análises de casos empíricos e um estudo de caso desenvolvido na Embrapa Pantanal constituem situações ilustrativas. Conclui-se que a comunicação face a face nas empresas ocorre de forma simultânea e combinada a outros canais de comunicação, porém, ela proporciona resultados práticos e filosóficos ainda pouco explorados. É rara a utilização estratégica de contatos presenciais como mecanismo para estabelecer relacionamentos, conhecer as reações alheias e ajustar a comunicação, aliar o discurso corporativo às práticas empresariais e avaliar o contexto onde se desenvolvem as interações, o que pode ser decisivo para a comunicação organizacional.

Cleavage Politics in Changing Times. Political Realignment Processes in Western European Countries

The dissertation fits the political realignment literature and aims to pro-vide further insights into cleavage politics by investigating voting behaviour in the Western European countries’ national elections. In particular, the dis-sertation focuses on the class and value voting patterns and on the change of these patterns in different countries and over the course of time. Peculiar pro-cesses affected all Western European party systems: whilst the «traditional» cleavage theory accounts for National and Industrial revolutions, those pro-cesses assumed to constitute the «societal modernization» determined chang-es in electoral competitions that questioned the relevance of individuals’ so-cial positions to study electoral preferences. Since the associations between social positions and voting behaviour underpin the so-called political cleav-age, the dealignment perspective assumes them to have been eroding since the second half of the XX century. On the other hand, the realignment perspective argues that the cleavage theory still accounts for individuals’ vote choices: of the four «traditional» cleavages, this perspective hypothesizes new class vot-ing patterns and alignments between electoral preferences and a new line of conflict, that is based on values. The dissertation provides a theoretical ac-count of the realignment of the class cleavage and a new conceptualization of value voting. Then, class and value voting patterns are explored. The analyses employ European Social Survey data and detect general and country-specific patterns. The dissertation adopts a mediation perspective and aims to observe how class voting patterns change when controlling for value orientations. The results are provided with a sensitivity analysis, indeed two versions of the measures computed for value orientations are compared. The findings show that social class continues to affect voting behaviour and that value orienta-tions both mediate this effect and affect electoral preferences.

Development of a robotic system for switchgear cabling

Industrial robots are an inalienable part of modern automated production. Typical applications of robots include welding, painting, (dis)assembly, packaging, labeling, palletizing, pick and place and others. Many of that applications includes object manipulation. If the shape and position of the object are known in advance, it is possible to design the trajectory of the robot’s end-effector to take and place. Such a strategy is applicable for rigid objects and widely used in the manufacturing field. But flexible (deformable) objects can change their shape and position upon contact with the robot’s end-effector or environment. That is the reason why the general approach is unacceptable. It means that the robot can fail to grasp such an object and can’t place it in the desired position. This thesis has addressed the problem of cable manipulation by bilateral robotic setup for the industrial manufacturing of electrical switchgear. The considered solution is based on the idea of tensioned cable. If the cable was grasped by the ends and tensioned, it has a line shape. Since the position of the robot’s end-effectors known, the position of the cable is known as well. Such an approach is capable to place cable in cable ducts of switchgear. The considered solution has been tested experimentally on a real bilateral robotic setup.

Characterisation of the sewage microbiome in four European cities throughout the COVID-19 pandemic by means of ecological and network modelling

The purpose of this work was to investigate possible patterns occurring in the sewage bacterial content of four cities (Bologna, Budapest, Rome, Rotterdam) over time (March 2020 - November 2021), also considering the possible effects of the lockdown periods due to the COVID-19 pandemic. The sewage metagenomics data were provided within VEO (Versatile Emerging infectious disease Observatory) project. The first analysis was the evaluation of the between samples diversity, looking for (dis)similarities among the cities, as well as among different time periods (seasonality). To this aim, we computed both similarity networks and Principal Coordinate Analysis (PCoA) plots based on the Bray-Curtis metric. Then, the alpha-biodiversity of the samples was estimated by means of different diversity indices. By looking at the temporal behaviour of the biodiversity in the four cities, we noticed an abrupt decrease in both Rome and Budapest in the Summer of 2020, that is related to: the prevalence of some species when the minimum occurred, and the change in correlations among species (studied via correlation networks), which is enriched in the period of minimum biodiversity. Rotterdam samples seem to be very different with respect to those from the other cities, as confirmed by PCoA. Moreover, the Rotterdam time series is proved to be stable and stationary also in terms of biodiversity. The low variability in the Rotterdam samples seems to be related to the species of Pseudomonas genus, which are highly variable and plentiful in the other cities, but are not among the most abundant in Rotterdam. Also, we observed that no seasonality effect emerged from the time series of the four cities. Regarding the impact of lockdown periods due to the COVID-19 pandemic, from the limited data available no effect on the time series considered emerges. More samples will be soon available and these analyses will be performed also on them, so that the possible effects of lockdowns may be studied.

EDUCACÃO EM HÁBITOS SAUDÁVEIS PARA MELHORAR A SAÚDE EM PACENTES DISLIPIDÊMICOS NA UBS LINHA 33 SÃO FRANCISCO DO GUAPORÉ/RONDÔNIA

O presente projeto de intervenção foi um estudo clínico intervencionista, de educação em saúde, feito em pacientes com Dislipidemias (DIS), cadastrados na equipe da Unidade Básica de Saúde (UBS) Linha 33, do município São Francisco do Guaporé no estado de Rondônia e que apresentaram critério de difícil controle dos valores do perfil lipídico. O trabalho foi realizado no período de fevereiro a junho de 2015 com o objetivo de aumentar os conhecimentos de hábitos de vida saudáveis em pacientes com Dislipidemias. Todos os nossos pacientes foram avaliados em consulta e seguimento contínuo pela equipe multidisciplinar. O instrumento para preencher os dados, ficha individual do paciente, nos permitiu avaliar o impacto da intervenção. Para o trabalho em grupo, o total de pacientes foi dividido em grupos de 15 pessoas que receberam uma atividade de educação em saúde mensal na USF, somadas às consultas, orientações e supervisões nas visitas domiciliares. Considerando os resultados da intervenção chegamos à conclusão que, mudando hábitos de vida consegue-se manter um bom estado de saúde e controle dos valores do perfil lipídico, diminuindo os casos de Dislipidemias.