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Osteogenesis imperfecta (OI) is a group of genetic skeletal disorders, with a prevalence of 1 in 15,000-20,000 births. OI type V has been described in approximately 150 cases and all patients carry the variant (c.-14C> T) in the IFITM5 gene. However, two other variants, p.S40L and p.N48S have been reported in this gene, leading to clinical phenotypes different from OI type V. Here we described a patient with multiple bone fractures, scoliosis, skull alteration (plagiocephaly), bone deformation, bone rickets, and intramedullary epithelioid osteosarcoma that bears the recently reported heterozygous variant c.143A>G (p.N48S) in the IFITM5 gene. This case supports the pathogenicity of this new variant in the IFITM5 gene and adds information regarding its clinical phenotype.

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BACKGROUND AND AIM: Cleidocranial dysplasia is a rare disorder of skeletal development that mainly promotes, among other malformations, inadequate development of clavicles and failure in cranial closure. In this affection, the role of neurosurgery in addressing cranial defects is rarely discussed. MATERIAL AND METHODS: We conducted an extensive review of the literature using the PubMed database, giving a greater focus to publications in the field of neurosurgery. Additionally, we report a case of a 2-year-old female child with cleidocranial dysplasia. RESULTS: In our review, we encountered several cases of orthodontic implications but a few cases on cranial defect approach. CONCLUSION: The articles present literature that is unanimous on the recommendation of expectant conduct in children since the cranial block can occur spontaneously, even if the delayed form. In our approach, we opted for an expected strategy concerning the cranial defect, using a helmet made for brain protection. We also made the referral for multidisciplinary monitoring of pediatrics, neuropediatrics, ophthalmology, dentistry, and orthopedics.

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Objetivo: este estudio presenta los resultados de un análisis de prospectiva estratégica aplicado a la prevención de los desórdenes musculoesqueléticos (DME) de origen laboral en Colombia. Comienza con el establecimiento del estado del arte y el análisis de tendencias y megatendencias mundiales en materia de prevención y culmina con la selección de un escenario apuesta, considerado por los expertos como aquel al que Colombia debe apostarle en el año 2025. Materiales y métodos: el método que se utilizó es el propuesto en el modelo prospectivo avanzado 2008, el cual permite seleccionar un "escenario apuesta", basado en el análisis retrospectivo y el estado actual de un sistema de estudio, así como el análisis de las tendencias, las opiniones de los expertos, el monitoreo tecnológico, el juego de actores y su interrelación. Con dichos insumos, se convocaron expertos de diversas áreas de interés de la Ergonomía y los riesgos laborales para adelantar los talleres de prospectiva estratégica, definición de factores de cambio, variables estratégicas, juego de actores, diseño de escenarios con los ejes de Peter Schwartz y análisis morfológico. Resultados: la información de los expertos se procesó con el análisis estructural en el software MIC MAC (1) y las relaciones con los actores, con el Mactor (1). Conclusiones: los factores y sus relaciones se examinaron hasta definir de manera objetiva los vectores de cambio para el futuro, los cuales permiten diseñar estrategias que, transformadas en acciones, en el corto y mediano plazo, conduzcan a los interesados a construir el futuro deseado para el año 2025

Objectives: this study presents the results of a strategic prospective analysis applied on the prevention of work-related muscular-skeletal disorders in Colombia. First the state of the art was established, then an analysis of worldwide trends and megatrends in prevention was made, finally a challenge scenario was selected, which is considered by experts as the one which Colombia should aim at in 2025. Materials and methods: the method used is the one proposed in the Advanced Prospective Model 20081, which allows the selection of a "Challenge Scenario" based on retrospective analysis and the current status of a system under study, as well as the analysis of the trends, opinions of experts, monitoring of technology, interplay of actors, and their interrelation. Having these inputs, experts in diverse areas of interest for ergonomics and job hazards were appointed to develop the workshops in strategic prospective: Factors of change, strategic variables, interplay of actors, design of scenarios using the axes of Peter Schwartz, and morphologic analysis. Results: the data provided by the experts was processed via structural analysis using the MIC MAC software (1) and the relations with the actors were processed using Mactor (1), Conclusion: in such a way that the factors and their relations were analyzed until defining the vectors of change for the future in an objective way, which allows to devise strategies that transformed into actions, going from short-term to mid-term, allow the stakeholders to construct the future desired for the year 2025.

Este estudo apresenta os resultados de uma análise de prospectiva estratégica aplicado à prevenção das desordens musculoesqueléticos (DME) de origem laboral na Colômbia. Começa com o estabelecimento do estado da arte e a análise de tendências e megatendências mundiais em matéria de prevenção, e culmina com a seleção de um cenário aposta, considerado pelos expertos como aquele ao que a Colômbia deve apostar-lhe no ano 2025. O método que se utilizou, é o proposto no Modelo Prospectivo avançado 2008, o qual permite selecionar um "Cenário Aposta", baseado na análise retrospectiva e o estado atual de um sistema de estudo, assim como a análise das tendências, as opiniões dos expertos, o monitoramento tecnológico, o jogo de atores e a sua inter-relação. Com ditos insumos, convocaram-se a expertos de diversas áreas de interesse da ergonomia e os riscos de trabalho, para adiantar os seminários de prospectiva estratégica, definição de fatores de mudança, variáveis estratégicas, jogo de atores, desenho de cenários usando os eixos de Peter Schwartz e análise morfológico. A informação dos expertos se processou com a utilização da análise estrutural no software MIC MAC (Godet, 2001) e as relações com os atores com o uso do MACTOR (Godet, 1990). Os fatores e as suas relações se analisaram até chegar a definir estratégias, que transformadas em ações, no curto e mediano prazo, permitam aos interessados construir o futuro desejado para o ano 2025.

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OBJECTIVE: To characterize the conditions of quality of working life, the presence of muscle- skeletal disorders and the association between these variables in nursing staff of a public hospital in Zacatecas, Mexico. METHOD: A cross-sectional study with descriptive-correlational scope was designed. A stratified random sampling per shift was used in 107 cases. The Questionnaire Professional Quality of Life (CVP-35) was applied as well as the Nordic Questionnaire Standardized for musculoskeletal pain and work-related risk factors questionnaire. RESULTS: The quality of working life gained an average of 55.62 (SD=13.57), the intrinsic motivation was the best rated component with (M=75.06, SD=18.44), contrary to managerial support that got the lowest scores with (M=43.74, SD=21.71). The presence of risk factors in the development work of musculoskeletal problems obtained a mean of 50.10 (SD=26.69). The main musculoskeletal disorders occurred in the neck region, lumbar spine and knees with 42.1% for each one. The quality of working life decreased in the presence of muscle-skeletal problems in the lumbar region with (-0.188, p≤.050), dorsal (-0.206, p≤.050), neck (-0.175, p≤.050) and knees (-0.220, p≤.010). CONCLUSIONS: It is necessary to improve the working conditions of nurses to reduce the presence of musculoskeletal problems and improve their quality of working life.

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La salud de los trabajadores y trabajadoras en Colombia atraviesa por múltiples retos y dificultades, derivados del contexto político y económico nacional, la encrucijada que vive el sistema de seguridad social y las tendencias en el mundo del trabajo. Frente a esta situación, la ergonomía como campo de conocimiento y acción tiene múltiples posibilidades de aporte, los cuales dependen de no ver esta disciplinada reducida a una dimensión técnica, sino de propiciar su participación en un marco de acción situada y contextualizada. Si bien se ha enfatizado la acción de la ergonomía en su aporte a la prevención de los desórdenes músculo-esqueléticos, su contribución a la salud de los trabajadores puede ser muy importante, en un escenario de búsqueda del bienestar laboral y social, como complemento a la acción preventiva de los riesgos laborales.

The health of workers in Colombia traverses multiple challenges and difficulties, starting from the national, political and economic context, crossroads living social security system and the trends in the world of work. Faced with this situation, the ergonomics as a field of knowledge and action has multiple possibilities of contribution, which depend on not to see this disciplined reduced to a technical dimension, but encourage their contribution within a framework of action located and contextualized. Although it has emphasized the action of ergonomics in its contribution to the prevention of muscle-skeletal disorders, their contribution to the health of workers can be very important, in a setting of search of the labor and social welfare as a complement to the prevention of occupational risks.

A saúde dos trabalhadores e trabalhadoras na Colômbia atravessa por múltiplos retos e dificuldades, derivados do contexto político e econômico nacional, a encruzilhada que vive o sistema de segurança social e as tendências no mundo do trabalho. Frente a esta situação, a ergonomia como campo de conhecimento e ação tem múltiplas possibilidades de aporte, os quais dependem de não ver esta disciplina reduzida a uma dimensão técnica, senão de propiciar seu aporte em um marco de ação situada e contextualizada. Se bem tem se enfatizado a ação da ergonomia em seu aporte à prevenção das desordens músculo esqueléticas, sua contribuição à saúde dos trabalhadores pode ser muito importante, em um cenário de busca de bem-estar laboral e social, como complemento à ação preventiva dos riscos laborais.

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Fundamentación: los trastornos músculo esquelético se encuentran entre los problemas más importantes de salud en el trabajo, los estomatólogos son un grupo de alto riesgo. Objetivo: describir los trastornos músculo esquelético de los estomatólogos y sus conocimientos sobre los principios ergonómicos. Metodología: se realizó un estudio descriptivo de corte transversal, de septiembre 2011 a julio de 2012 en el municipio de Sancti Spíritus. Se estudiaron 81 estomatólogos y las variables: presencia de dolor, tiempo de trabajo en el sillón dental, tratamiento médico recibido, trastornos músculo esqueléticos y conocimientos de principios ergonómicos. Para el análisis de los resultados se empleó el análisis porcentual. Resultados: los dolores en cuello, parte superior de espalda y hombros fueron los trastornos más frecuentes en períodos de siete días y un año incrementándose en correspondencia con las horas de trabajo en el sillón dental, además la mayoría de los estomatólogos estudiados desconoce los principios de ergonomía en su especialidad. Conclusiones: existen trastornos músculos esqueléticos que alcanzaron los mayores valores coincidiendo con el aumento de horas en sillón. Se evidenció desconocimiento por parte de los profesionales de los principios de ergonomía.

Background: Muscle skeletal disorders are one of the most important problems of health at work and dentists are a group at high risk. Objective: to describe the muscle skeletal disorders in dentists and their knowledge about the ergonomic principles. Methodology : A transversal descriptive work was carried out from September 2011 to July 2012 in Sancti Spíritus municipality. 81 dentists were studied and the variables were pain presence, time at work in the dentist's chair, medical treatment received, muscle skeletal disorders and knowledge about the ergonomic principles. For the analysis of the results the percentage analyses was used. Results: neck pain, upper part of the back and shoulders were the most frequent disorders in 7 days and 1 year periods increasing according to the hours at work in the dentist's chair, therefore the majority of dentists studied disclaim the principles of ergonomics. Conclusions : there are muscle skeletal disorders which reach major values according to the increase of hours in the dentist's chair. It was evidenced that there are doubts by the professionals about the principles of ergonomics.

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