RESUMO
MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor and behavioural features. To date, fewer than 200 cases have been published. We report the clinical and molecular characterization of a Spanish MDS cohort that included 19 boys and 2 girls. Clinical suspicions were confirmed by array comparative genomic hybridization and multiplex ligation-dependent probe amplification (MLPA). Using, a custom in-house MLPA assay, we performed a thorough study of the minimal duplicated region, from which we concluded a complete duplication of both MECP2 and IRAK1 was necessary for a correct MDS diagnosis, as patients with partial MECP2 duplications lacked some typical clinical traits present in other MDS patients. In addition, the duplication location may be related to phenotypic severity. This observation may provide a new approach for genotype-phenotype correlations, and thus more personalized genetic counselling.
Assuntos
Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Quinases Associadas a Receptores de Interleucina-1/genética , Deficiência Intelectual Ligada ao Cromossomo X/genética , Proteína 2 de Ligação a Metil-CpG/genética , Adolescente , Adulto , Criança , Pré-Escolar , Cromossomos Humanos X/genética , Hibridização Genômica Comparativa , Deficiências do Desenvolvimento/patologia , Feminino , Estudos de Associação Genética , Humanos , Lactente , Deficiência Intelectual/patologia , Masculino , Deficiência Intelectual Ligada ao Cromossomo X/patologia , Hipotonia Muscular/genética , Hipotonia Muscular/patologia , Linhagem , Medicina de Precisão , Adulto JovemRESUMO
Objectives. The safety behavior scale (SBS), developed by Neal, Griffin and Hart, is one of the most widely used conceptualizations in the field of occupational safety. Previous studies have evaluated the psychometric properties of this scale in different populations. However, few validation studies have been conducted in the Latin American context. To fill these gaps in the literature, this study aimed to assess the validity, reliability and measurement invariance of this instrument in the context of the Latin American mining industry. Methods. Data were collected from 398 workers from Ecuadorian mining companies. The questionnaire was translated into Spanish following a back-translation process. The latent factorial structure of the SBS was explored by estimating a series of confirmatory factor analysis (CFA) and exploratory equation modeling (ESEM) models. Results. The analyses showed that the two correlated first-order factor CFA representation was the most appropriate model for the data. Measurement invariance by age, type of contract and firm size was also confirmed. Conclusions. The SBS is a valid and reliable measure of safety behavior. In addition, this study determined the applicability of this instrument in the Latin American context, which enhances opportunities for future research in the region.
Assuntos
Saúde Ocupacional , Traduções , Humanos , Reprodutibilidade dos Testes , Inquéritos e Questionários , Comportamentos Relacionados com a Saúde , Psicometria/métodosRESUMO
Despite the existence of systematic literature reviews focused on examining the factors contributing to project success, there remains a scarcity of reviews addressing the relationship between the project managers' competencies and project success. To fill this gap in the literature, this review aimed to evaluate peer-reviewed articles, published between 2010 and 2022, and analyze the impact of project managers' competencies on project success. The Web of Science, Scopus, ScienceDirect, and ProQuest electronic databases were first consulted in September 2021, with an update in August and October 2022. A total of 232 titles were analyzed. Ten articles met the criteria and were fully reviewed. A content analysis and a citation network were carried out to analyze the included articles. The analysis revealed that the existing literature has primarily explored the influence of competencies from the personal and social dimensions, such as leadership, communication, and emotional intelligence, on project success. Conversely, competencies from other dimensions have received less attention in the literature. In addition, this review contributes to the literature by providing a holistic categorization of competencies associated with project success and examining and organizing project success criteria into three dimensions.
Assuntos
Comunicação , Inteligência Emocional , Encaminhamento e Consulta , LiderançaRESUMO
Major technological advances that are being introduced in the global mining industry have an impact on work and employee attitudes toward safety. The objective of this study was to analyze the impact of empowerment and technology on safety behavior. The research design was cross-sectional, and the sample was composed of 403 employees in mining companies. To measure safety behavior we used Neal, Griffin and Hart scales, and psychological empowerment was measured using the Spreitzer scale. The results indicated high levels of empowerment on safety behavior and medium levels of technology's promotion and prevention factors in the employees surveyed. Also, the study revealed that the meaning dimension of empowerment and the promotion technology factor positively affect safety behavior. A further contribution of the study is in the design of a scale to measure the impact of technology on safety behavior, as there are no known scales for this.
Assuntos
Comportamentos Relacionados com a Saúde , Mineração , Estudos Transversais , Humanos , Inquéritos e Questionários , TecnologiaRESUMO
Older adults are a growing population group in Latin America, hence the importance of deepening studies, proposals, and policies to guarantee their well-being. This article analyzes the perception of quality of life in older adults from Mexico and Ecuador and its association with several socioeconomic variables. The study design was cross-sectional. The sample comprised 450 older adults, 238 from Mexico and 212 from Ecuador. The WHOQOL-OLD Quality of Life Questionnaire and a set of sociodemographic variables were used. The results showed a higher perception of quality of life in the Mexican sample regarding most of the dimensions, except for sensory skills and social participation. An association was also found between sensory skills and sports practice, as well as between social participation and education level. The study achieves a binational approach to the reality of older adults in Latin America and confirms that there are differences in each sample that are due to the particularities of each reality. This research contributes to deepening the reality of the elderly, especially in Ecuador, where the quality-of-life studies in all age segments must be strengthened.
RESUMO
If there is any field that has experienced changes as a result of the COVID-19 pandemic, it is work, primarily due to the implementation of teleworking and the effort made by workers and families to face new responsibilities. In this context, the study aims to analyze the impact of work-family conflict on burnout, considering work overload, in teleworkers during the COVID-19 pandemic. To evaluate the hypotheses, we used data collected during the last week of July 2020 using an online survey. Work-family conflict and burnout were measured using the Gutek et al. (1991) and Shirom (1989) scales. We tested the hypotheses using a structural equation model (SEM). The results indicated, between other findings, that there was a positive relationship between work-family conflict and family-work conflict and all the dimensions of burnout. However, there was no effect of teleworking overload in the work-family conflict and burnout relationship. This article is innovative because it highlights the importance of the economic and regulatory conditions that have surrounded the modality of teleworking during the pandemic, and their influence on wellbeing and psychosocial risks in workers.
Assuntos
Esgotamento Profissional , COVID-19 , Esgotamento Profissional/epidemiologia , Conflito Familiar , Humanos , Pandemias , SARS-CoV-2 , Inquéritos e Questionários , TeletrabalhoRESUMO
BACKGROUND: Rett syndrome (RTT) is a developmental disorder with an early onset and X-linked dominant inheritance pattern. It is first recognized in infancy and is seen almost always in girls, but it may be seen in boys on rare occasions. Typical RTT is caused by de novo mutations of the gene MECP2 (OMIM*300005), and atypical forms of RTT can be caused by mutations of the CDKL5 (OMIM*300203) and FOXG1 (OMIM*164874) genes. METHODS: Approximately 5% of the mutations detected in MECP2 are large rearrangements that range from exons to the entire gene. Here, we have characterized the deletions detected by multiplex ligation-dependent probe amplification (MLPA) in the gene MECP2 of 21 RTT patients. Breakpoints were delineated by DNA-qPCR until the amplification of the deleted allele by long-PCR was possible. RESULTS: This methodology enabled us to characterize deletions ranging from 1,235 bp to 85 kb, confirming the partial or total deletion of the MECP2 gene in all these patients. Additionally, our cases support the evidence claiming that most of these breakpoints occur in some restricted regions of the MECP2 gene. CONCLUSION: These molecular data together with the clinical information enable us to propose a genotype-phenotype correlation, which is essential for providing genetic counseling.
Assuntos
Dosagem de Genes , Proteína 2 de Ligação a Metil-CpG/genética , Síndrome de Rett/genética , Deleção de Sequência , Adolescente , Alelos , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Fatores de Transcrição Forkhead/genética , Estudos de Associação Genética , Genótipo , Humanos , Proteínas do Tecido Nervoso/genética , Fenótipo , Proteínas Serina-Treonina Quinases/genética , Síndrome de Rett/diagnósticoRESUMO
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern.
Assuntos
Fenótipo , Síndrome de Rett/diagnóstico , Síndrome de Rett/genética , Inativação do Cromossomo X , Alelos , Encéfalo/metabolismo , Encéfalo/patologia , Feminino , Genes Ligados ao Cromossomo X , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Proteína 2 de Ligação a Metil-CpG/genética , Mutação , Análise de Sequência de DNARESUMO
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate the usefulness of NGS in genetic diagnosis, we present the genetic study of RTT-like patients using different techniques based on this technology. We studied 1577 patients with RTT-like clinical diagnoses and reviewed patients who were previously studied and thought to have RTT genes by Sanger sequencing. Genetically, 477 of 1577 patients with a RTT-like suspicion have been diagnosed. Positive results were found in 30% by Sanger sequencing, 23% with a custom panel, 24% with a commercial panel and 32% with whole exome sequencing. A genetic study using NGS allows the study of a larger number of genes associated with RTT-like symptoms simultaneously, providing genetic study of a wider group of patients as well as significantly reducing the response time and cost of the study.
Assuntos
Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala , Síndrome de Rett/diagnóstico , Estudos de Coortes , Variações do Número de Cópias de DNA/genética , Fatores de Transcrição Forkhead/genética , Humanos , Proteína 2 de Ligação a Metil-CpG/genética , Mutação , Proteínas do Tecido Nervoso/genética , Polimorfismo de Nucleotídeo Único , Proteínas Serina-Treonina Quinases/genética , Síndrome de Rett/genética , Sequenciamento do ExomaRESUMO
OBJECTIVE: To achieve, through a training and preventive intervention, a significant change in the emotional experience of a group of health care professionals at risk of exposure to workplace violence. METHOD: 143 Catalonian health professionals participated in a training course on occupational risk prevention that incorporated theatrical staging techniques and psychotherapeutic strategies, focused on the interpretation of emotional experiences associated with violence in the workplace. They participated voluntarily in the program and were selectedaccording to type of healthcare delivered and professional diversity. A pre- and post-course questionnaire was administered. RESULTS: Ninety-two percent of respondents claimed to have witnessed, and 85% had personally experienced, a violent episode in the previous five years. The comparison of mean scores before and after the training intervention revealed anincrease in the positive assessment of the effectiveness of one's own performance and communication skills (p< 0.001), and induced emotional experiences in line with a greater peace of mind (p< 0.005) and less anxiety (p< 0.005) with respect to the violent incident. CONCLUSIONS: Staging experiential stressful situations can be a useful learning tool for managing emotions, which increases the perceived degree of one's ability to manage communication, teamwork and professional stress itself.
OBJETIVO: Lograr, mediante una intervención formadora y preventiva, un cambio significativo en la experiencia emocional de un grupo de profesionales de la salud expuestos a situaciones de riesgo de violencia ocupacional. MÉTODO: 143 profesionales de la salud catalanes participaron en un curso de prevención de riesgos laborales cuyo contenido se basó en la articulación de técnicas de escenificación teatral y de estrategias psicoterapéuticas y se centró en la interpretación de episodios de violencia en el lugar de trabajo. Su participación en el programa fue voluntaria y fueron seleccionados atendiendo a los criterios de tipo de asistencia prestada y de diversidad profesional. Antes y después del programa les fue aplicado un cuestionario. RESULTADOS: El 92% de los participantes declaró haber presenciado y el 85% haber vivido personalmente algún episodio violento en los últimos cinco años. La comparación de las puntuaciones medias de antes y después indica que la intervención incrementa la valoración positiva de la eficacia de la propia actuación y de las propias competencias de comunicación (p< 0,001) e induce vivencias emocionales en la línea de unamayor tranquilidad (p< 0,005) y unamenor ansiedad (p< 0,005) con respecto al incidente violento. CONCLUSIONES: La escenificación vivencial de las situaciones estresantes es un instrumento útil para el aprendizaje de la gestión de las emociones, que incrementa el grado percibido de la propia capacidad de manejo de la comunicación y del trabajo en equipo y del propio estrés profesional.
Assuntos
Pessoal de Saúde , Exposição Ocupacional/prevenção & controle , Psicodrama , Violência no Trabalho/prevenção & controle , Humanos , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: Testing the microbiological quality of food samples from municipalities in the Santander department which were processed by the Public Health Laboratory(PHL) in 2009. MATERIALS AND METHODS: The microbiological quality of food samples sent to the Santander PHL in 2009 was analysed by collecting reports issued by the institution and conducting a statistical analysis of 763 food samples from 76 municipalities in the department. Minitab statistical software (version 15) and Statistica (version 8.0) were used for analysing the information by municipality; this information was organised by food category and adverse incident frequency was analysed in each municipality from January to December 2009. RESULTS: It was seen that 45.2% (n=345) of 763 food records had bacterial contamination; there was a greater frequency of these events in the municipalities of Barichara, Barrancabermeja, Floridablanca, Girón, Socorro and Valle de San Jose accounting for 33.6% (n=116) of all affected samples. The main foods that had non-standard parameters were prepared foods (160 samples submitted), of which 80 had alterations in quality (50%), followed by drinks like fruit juice and soft drinks (48.3%), dairy products (47.9%) and meat (40.7%). CONCLUSIONS: A high rate of food contamination was found in the samples sent to PHL during 2009; this information is useful for planning preventative action within the ongoing PHL surveillance programme.
Assuntos
Microbiologia de Alimentos , Animais , Bactérias/isolamento & purificação , Bebidas/microbiologia , Colômbia , Laticínios/microbiologia , Grão Comestível/microbiologia , Contaminação de Alimentos/estatística & dados numéricos , Manipulação de Alimentos , Humanos , Lactente , Alimentos Infantis/microbiologia , Laboratórios , Carne/microbiologia , Saúde Pública , Saúde da População UrbanaRESUMO
Objetivo Analizar la calidad Microbiológica de alimentos provenientes de los Municipios de Santander, procesados por el Laboratorio Departamental de Salud Pública durante el año 2009. Materiales y Métodos Se analizó la calidad microbiológica de los alimentos remitidos al LDSP de Santander durante el año 2009 mediante la recopilación de los reportes emitidos por la institución y la realización de un análisis estadístico de 763 muestras de alimentos provenientes de 76 municipios del departamento. Se analizó la información por municipio en los programas estadísticos Minitab versión 15 y Statistica versión 8.0 donde se organizó la información por categorías alimentarias y se analizaron las frecuencias en cada municipio durante el periodo de enero a diciembre del 2009 Resultados Se evidenció que de los 763 registros de alimentos el 45,2 % (n=345) presentaron contaminación bacteriana, observándose una mayor frecuencia de estos eventos en los municipios de Barichara, Barrancabermeja, Floridablanca, Girón, Socorro y Valle de San José con el 33,6 % (n=116) del total de muestras afectadas. Los principales alimentos que presentaron parámetros fuera de norma fueron los alimentos preparados con un total de 160 muestras remitidas, de las cuales 80 presentaron alteraciones lo que corresponde al 50 %, seguido de las bebidas como jugos y refrescos con un 48,3 %, los lácteos 47,9 % y los cárnicos 40,7 %. Conclusiones En las muestras remitidas al LDSP se encontró un alto índice de contaminación alimentaria durante el año 2009, información útil para la planeación de acciones preventivas dentro de los programa de vigilancia del LDSP.
Objective Testing the microbiological qualityof foodsamples from municipalities in theSantander department which were processed bythePublicHealth Laboratory(PHL) in 2009. Materialsand Methods The microbiological quality of food samples sent to the Santander PHL in 2009 was analysed by collecting reports issued by the institution and conducting a statistical analysis of 763 food samples from 76 municipalities in the department. Minitab statistical software (version 15) and Statistica (version 8.0) were used for analysing the information by municipality; this information was organised by food category and adverse incident frequency was analysed in each municipality from January to December 2009. Results It was seen that 45.2 % (n=345) of 763 food records had bacterial contamination; there was a greater frequency of these events in the municipalities of Barichara, Barrancabermeja, Floridablanca, Girón, Socorro and Valle de San Jose accounting for 33.6 % (n=116) of all affected samples. The main foods that had non-standard parameters were prepared foods (160 samples submitted), of which 80 had alterations in quality (50 %), followed by drinks like fruit juice and soft drinks (48.3 %), dairy products (47.9 %) and meat (40.7 %). Conclusions A high rate of food contamination was found in the samples sent to PHL during 2009; this information is useful for planning preventative action within the ongoing PHL surveillance programme.
Assuntos
Animais , Humanos , Lactente , Microbiologia de Alimentos , Bactérias/isolamento & purificação , Bebidas/microbiologia , Grão Comestível/microbiologia , Colômbia , Laticínios/microbiologia , Contaminação de Alimentos/estatística & dados numéricos , Manipulação de Alimentos , Alimentos Infantis/microbiologia , Laboratórios , Carne/microbiologia , Saúde Pública , Saúde da População UrbanaRESUMO
MAEBL is an erythrocyte binding protein located in the rhoptries and on the surface of mature merozoites, being expressed at the beginning of schizogony. The structure of MAEBL originally isolated from rodent malaria parasites suggested a molecule likely to be involved in invasion. We thus became interested in identifying possible MAEBL functional regions. Synthetic peptides spanning the MAEBL sequence were tested in erythrocyte binding assays to identify such possible MAEBL functional regions. Nine high activity binding peptides (HABPs) were identified: two were found in the M1 domain, one was found between the M1 and M2 regions, five in the erythrocyte binding domain (M2), and one in the protein's repeat region. The results showed that peptide binding was saturable; some HABPs inhibited in vitro merozoite invasion and specifically bound to a 33kDa protein on red blood cell membrane. HABPs' possible function in merozoite invasion of erythrocytes is also discussed.
Assuntos
Proteínas de Transporte/metabolismo , Eritrócitos/metabolismo , Plasmodium falciparum/metabolismo , Proteínas de Protozoários/metabolismo , Receptores de Superfície Celular , Sequência de Aminoácidos , Animais , Sítios de Ligação , Ligação Competitiva , Dicroísmo Circular , Reagentes de Ligações Cruzadas/farmacologia , Relação Dose-Resposta a Droga , Humanos , Cinética , Malária/metabolismo , Dados de Sequência Molecular , Biossíntese Peptídica , Peptídeos/química , Ligação Proteica , Estrutura Terciária de Proteína , RatosRESUMO
Objetivo: Lograr, mediante una intervención formadora y preventiva, un cambio significativo en la experiencia emocional de un grupo de profesionales de la salud expuestos a situaciones de riesgo de violencia ocupacional. Método: 143 profesionales de la salud catalanes participaron en un curso de prevención de riesgos laborales cuyo contenido se basó en la articulación de técnicas de escenificación teatral y de estrategias psicoterapéuticas y se centró en la interpretación de episodios de violencia en el lugar de trabajo. Su participación en el programa fue voluntaria y fueron seleccionados atendiendo a los criterios de tipo de asistencia prestada y de diversidad profesional. Antes y después del programa les fue aplicado un cuestionario. Resultados: El 92%de los participantes declaró haber presenciado y el 85%haber vivido personalmente algún episodio violento en los últimos cinco años. La comparación de las puntuaciones medias de antes y después indica que la intervención incrementa la valoración positiva de la eficacia de la propia actuación y de las propias competencias de comunicación (p< 0,001)e induce vivencias emocionales en la línea de una mayor tranquilidad (p< 0,005) y una menor ansiedad (p<0,005) con respecto al incidente violento. Conclusiones: La escenificación vivencial de las situaciones estresantes es un instrumento útil para el aprendizaje de la gestión de las emociones, que incrementa el grado percibido de la propia capacidad de manejo de la comunicación y del trabajo en equipo y del propio estrés profesional(AU)
Objective: To achieve, through a training and preventive intervention, a significant change in the emotional experience of a group of health care professionals at risk of exposure to workplace violence. Method: 143 Catalonian health professionals participated in a training course on occupational risk prevention that incorporated theatrical staging techniques and psychotherapeutic strategies, focused on the interpretation of emotional experiences associated with violence in the workplace. They participated voluntarily in the program and were selected according to type of healthcare delivered and professional diversity. A pre- and post-course questionnaire was administered. Results: Ninety-two percent of respondents claimed to have witnessed, and 85% had personally experienced, a violent episode in the previous five years. The comparison of mean scores before and after the training intervention revealed an increase in the positive assessment of the effectiveness of ones own performance and communication skills (p<0.001), and induced emotional experiences in line with a greater peace of mind (p<0.005) and less anxiety (p<0.005) with respect to the violent incident. Conclusions: Staging experiential stressful situations can be a useful learning tool for managing emotions, which increases the perceived degree of ones ability to manage communication, teamwork and professional stress itself(AU)
Assuntos
Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Violência/prevenção & controle , Violência/psicologia , Psicologia Industrial/educação , Psicologia Industrial/métodos , Inteligência Emocional , Sintomas Afetivos/psicologia , Saúde Ocupacional/normas , Saúde Ocupacional/tendências , Psicologia Industrial/organização & administração , Psicologia Industrial/normas , Relações Interpessoais , Ansiedade/psicologiaRESUMO
Tutor: Prof. Lic. Rosa Vellozo. Cátedra de Adulto y anciano.