On the contribution to the alignment during an organizational change: Measurement of job satisfaction with working conditions.

INTRODUCTION: Modern approaches to Occupational Health and Safety have acknowledged the important contribution that continuous improvements to working conditions can make to the motivation of employees, their subsequent performance, and therefore to the competitiveness of the company. Despite this fact, organizational change initiatives represent a path less traveled by employees. Specialized literature has drawn on the fact that employees' satisfaction presents both the foundation and catalyst for effective implementation of improvements to working conditions. METHOD: This paper conceptualizes the alignment of employees through measurement of job satisfaction and uses the Bayesian Network to assess the influence of human factors, particularly the cognitive, emotional, and behavioral aspects. Toward this aim, the Bayesian Network is evaluated through a cross-validation process, and a sensitivity analysis is then conducted for each influential dimension: emotional, cognitive, and behavioral. RESULTS: The results reveal that these three dimensions are interrelated and have a direct influence on job satisfaction and employees' alignment during the organization change. Further, they suggest that the best strategy for enhanced alignment and smooth conduct of organizational changes is simultaneous enhancement of the three dimensions. Practical applications: This study shows the influence of emotional, cognitive, and behavioral dimensions on job satisfaction and employees' alignment during the organizational change. Furthermore, it elaborates the way to develop efficient and effective strategies for a successful change implementation and sustained alignment.

Nuevas mutaciones asociadas a la enfermedad de Hirschsprung / New mutations associated with Hirschsprung disease

INTRODUCCIÓN: La enfermedad de Hirschsprung está causada por un defecto de la migración celular desde la cresta neural hasta el tracto gastrointestinal, resultando en la ausencia de neuronas en el plexo mientérico. Mutaciones en varios genes han sido asociadas a la enfermedad de Hirschsprung, la mayoría afectando a la vía del protooncogén RET. El objetivo de este estudio es la descripción de mutaciones tanto descritas como nuevas asociadas a la enfermedad de Hirschsprung, así como sus implicaciones pronósticas. MATERIAL Y MÉTODOS: Análisis retrospectivo de pacientes con enfermedad de Hirschsprung y resultados genéticos positivos desde 1970 hasta 2013. RESULTADOS: En la serie global, 21 pacientes tenían resultados genéticos positivos, 17 de ellos afectando la vía del protooncogén RET. Dos de las mutaciones son nuevas y no han sido previamente descritas en la literatura médica. CONCLUSIONES: El protooncogén RET es el principal gen asociado a la enfermedad de Hirschsprung. Todavía hay múltiples mutaciones desconocidas relacionadas con la patogenia de la enfermedad. El estudio genético del gen RET debe formar parte del estudio diagnóstico de todos los pacientes con enfermedad de Hirschsprung, así como de sus familiares de primer grado en caso de que las mutaciones estén asociadas a los síndromes MEN2A y MEN2B

INTRODUCTION: Hirschsprung disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have been associated to Hirschsprung disease; most of them affecting the RET proto-oncogen pathway. The purpose of this study is the description of novel and known mutations in genes associated to Hirschsprung disease and their prognostic implications. MATERIAL AND METHODS: Retrospective analysis of patients with Hirschsprung disease and positive genetic studies evaluated from 1970 to 2013. RESULTS: We found 21 positive genetic studies in the global series, 17 of them involving the RET proto-oncogene. Two of the mutations are novel and they have not been reported in the medical literature. CONCLUSIONS: The RET protooncogene is the main gene associated with Hirschsprung disease. There are still multiple unknown mutations related to the pathogenesis of the disease. The study of this gene must be part of the work-up of all patients with Hirschsprung disease, as well as their first degree relatives if the mutation is associated with MEN2A and MEN2B syndromes

[New mutations associated with Hirschsprung disease]. / Nuevas mutaciones asociadas a la enfermedad de Hirschsprung.

INTRODUCTION: Hirschsprung disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have been associated to Hirschsprung disease; most of them affecting the RET proto-oncogen pathway. The purpose of this study is the description of novel and known mutations in genes associated to Hirschsprung disease and their prognostic implications. MATERIAL AND METHODS: Retrospective analysis of patients with Hirschsprung disease and positive genetic studies evaluated from 1970 to 2013. RESULTS: We found 21 positive genetic studies in the global series, 17 of them involving the RET proto-oncogene. Two of the mutations are novel and they have not been reported in the medical literature. CONCLUSIONS: The RET protooncogene is the main gene associated with Hirschsprung disease. There are still multiple unknown mutations related to the pathogenesis of the disease. The study of this gene must be part of the work-up of all patients with Hirschsprung disease, as well as their first degree relatives if the mutation is associated with MEN2A and MEN2B syndromes.

New mutations associated with Hirschsprung disease.

INTRODUCTION: Hirschsprung Disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have been associated to Hirschsprung disease; most of them affecting the RET proto-oncogen pathway. The purpose of this study is the description of novel and known mutations in genes associated to Hirschsprung disease and their prognostic implications. MATERIAL AND METHODS: Retrospective analysis of patients with Hirschsprung disease and positive genetic studies evaluated from 1970 to 2013. RESULTS: We found 21 positive genetic studies in the global series, 17 of them involving the RET proto-oncogene: Two of the mutations are novel and they have not been reported in the medical literature. CONCLUSIONS: The RET protooncogene is the main gene associated with Hirschsprung disease. There are still multiple unknown mutations related to the pathogenesis of the disease. The study of this gene must be part of the work-up of all patients with Hirschsprung disease, as well as their first degree relatives if the mutation is associated with MEN2A and MEN2B syndromes.

Intervención para reducir la variabilidad de las indicaciones quirúrgicas y la lista de espera de pacientes con prioridad 1. Una experiencia en Galicia / Intervention to reduce variability in surgical indications and the waiting list of priority 1 patients. An experience in Galicia (Spain)

Resumen Los objetivos de este trabajo fueron homogeneizar las indicaciones quirúrgicas de prioridad 1 en los hospitales gallegos y proponer una metodología orientada a conseguir que las esperas de los pacientes en prioridad 1 no superen los 30 días. Se recopilaron y revisaron todas las indicaciones quirúrgicas de prioridad 1 de los diferentes servicios quirúrgicos de Galicia y se enviaron a las sociedades científicas para validar. Para reducir la espera a menos de 30 días se implantó un procedimiento de monitorización periódica de pacientes, con asignación de tareas a todos los implicados. Para medir el cambio se compararon los tiempos medios de espera previos con los de después de la implantación, y se habían reducido en un 55,7% respecto a la situación previa a la intervención. Todas las especialidades quirúrgicas redujeron sus tiempos medios de espera, excepto una. El procedimiento instaurado ha permitido disminuir el número de pacientes en espera y reducir ésta a menos de 30 días en casi todas las especialidades quirúrgicas (AU)

Abstract The aims of this study were to homogenize priority 1 surgical indications in Galician hospitals and propose a methodology designed to ensure that that the waiting times of priority 1 patients do not exceed 30 days. The priority 1 surgical indications of the distinct surgical services in Galicia were obtained and reviewed and were then sent for validation to the scientific societies. To reduce waiting times to less than 30 days, a procedure of periodic patient monitoring was established, with allocation of tasks to all the parties involved. Comparison of the mean waiting times before and after the implantation of periodic monitoring showed that this procedure reduced the mean waiting time by 55.7%. The mean waiting time was reduced in all the surgical specialities except one. In almost all of the surgical specialities, the procedure established reduced the number of patients on the waiting lists and the mean waiting time to less than 30 days (AU)

[Intervention to reduce variability in surgical indications and the waiting list of priority 1 patients. An experience in Galicia (Spain)]. / Intervención para reducir la variabilidad de las indicaciones quirúrgicas y la lista de espera de pacientes con prioridad 1. Una experiencia en Galicia.

The aims of this study were to homogenize priority 1 surgical indications in Galician hospitals and propose a methodology designed to ensure that that the waiting times of priority 1 patients do not exceed 30 days. The priority 1 surgical indications of the distinct surgical services in Galicia were obtained and reviewed and were then sent for validation to the scientific societies. To reduce waiting times to less than 30 days, a procedure of periodic patient monitoring was established, with allocation of tasks to all the parties involved. Comparison of the mean waiting times before and after the implantation of periodic monitoring showed that this procedure reduced the mean waiting time by 55.7%. The mean waiting time was reduced in all the surgical specialities except one. In almost all of the surgical specialities, the procedure established reduced the number of patients on the waiting lists and the mean waiting time to less than 30 days.

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.

BACKGROUND: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1. Biochemically this results in underhydroxylation of collagen lysyl residues and, hence, an abnormal pattern of lysyl pyridinoline (LP) and hydroxylysyl pyridinoline (HP) crosslinks excreted in the urine. Clinically the disorder is characterized by hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin hyperelasticity and fragility. Severe hypotonia usually leads to delay in gross motor development, whereas cognitive development is reported to be normal. METHODS: We describe the clinical, biochemical and molecular characterisation, as well as electron microscopy findings of skin, in 15 patients newly diagnosed with this rare type of Ehlers-Danlos syndrome. RESULTS: Age at diagnosis ranged from 5 months to 27 years, with only 1/3 of the patients been diagnosed correctly in the first year of life. A similar disease frequency was found in females and males, however a broad disease severity spectrum (intra- and interfamilial), independent of molecular background or biochemical phenotype, was observed. Kyphoscoliosis, one of the main clinical features was not present at birth in 4 patients. Importantly we also noted the occurrence of vascular rupture antenatally and postnatally, as well as developmental delay in 5 patients. CONCLUSION: In view of these findings we propose that EDS VIA is a highly variable clinical entity, presenting with a broad clinical spectrum, which may also be associated with cognitive delay and an increased risk for vascular events. Genotype/phenotype association studies and additional molecular investigations in more extended EDS VIA populations will be necessary to further elucidate the cause of the variability of the disease severity.

Novel features in auriculo-condylar syndrome.

Auriculo-condylar syndrome (ACS, OMIM 602483) is an autosomal dominant condition with marked phenotypic variability. In some patients, the condition may be limited to the auricular deformity which can vary from auricular cleft, cupped helix to the 'question mark' ear, where there is constriction between the middle and lower thirds of the ear. The latter has also been reported in isolation. Other clinical features are; facial asymmetry, round faces with prominent cheeks, microstomia, micrognathia, dental malocclusion and hearing loss. Radiological findings include abnormalities of the temporomandibular joint and/or the mandibular condyle. We describe nine ACS patients (five familial, four singleton) with novel clinical signs including facial clefts, pre-auricular and cheek pits further delineating the features of this highly variable condition. Delayed diagnosis is a common feature suggesting that ACS is largely unrecognized and may be more common than the literature suggests.

Insuficiencia renal crónica VI: prevención de su progresión / Chronic renal insufficiency. VI: Progression prevention

No disponible

No disponible

Intervenção sobre hipertensão arterial e risco cardiovascular na equipe de saúde da família Ermida I município Divinópolis - Minas Gerais

A Equipe de Saúde da Família Ermida 1 em Divinópolis /MG presta serviços em saúde a portadores de HAS adscritos ao território da equipe. Para reduzir o elevado índice de hipertensos, elaborou-se uma proposta de intervenção, estimulando a redução dos fatores de risco modificáveis. Este trabalho foi proposto após a realização da análise situacional e pelo levantamento dos principais problemas de saúde existentes no território. A partir de então, foram planejadas ações em saúde, utilizando o método de Planejamento Estratégico Situacional (PES) e com as informações coletadas nos registros da equipe, consulta médica e contato com pacientes durante as visitas domiciliares e fichas A. O método da Estimativa Rápida Participativa proporcionou conhecer as condições de vida da população do território da equipe Ermida 1, suas características, meio ambiente onde vivem e da maneira e a forma como se distribui no território. Os nós críticos identificados foram: O Processo de trabalho da equipe de saúde inadequado para assistir os hipertensos; Níveis de informação da população hipertensa sobre o problema; Costumes, hábitos e estilos de vida da população; Exposição dos hipertensos a determinados fatores de risco modificáveis. A realização desta intervenção necessita da participação da equipe multidisciplinar. Para melhor acompanhamento através do aumento quantitativo e qualitativo das consultas médica e de enfermagem, assistência farmacêutica e nutricional capazes de contribuir com a melhoria dos níveis pressóricos melhorando a qualidade de vida dos hipertensos.