ACSS2 gene variant associated with cleft lip and palate in two independent Hispanic populations.

OBJECTIVES/HYPOTHESIS: A candidate variant (p.Val496Ala) of the ACSS2 gene (T > C missense, rs59088485 variant at chr20: bp37 33509608) was previously found to consistently segregate with nonsyndromic cleft lip and/or palate (NSCLP) in three Honduran families. Objectives of this study were 1) to investigate the frequency of this ACSS2 variant in Honduran unrelated NSCLP patients and unrelated unaffected controls and 2) to investigate the frequency of this variant in Colombian unrelated affected NSCLP patients and unrelated unaffected controls. STUDY DESIGN: Case-control studies. METHODS: Sanger sequencing of 99 unrelated Honduran NSCLP patients and 215 unrelated unaffected controls for the p.Val496Ala ACSS2 variant was used to determine the carrier frequency in NSCLP patients and controls. Sanger sequencing of 230 unrelated Colombian NSCLP patients and 146 unrelated unaffected controls for the p.Val496Ala ACSS2 variant was used to determine the carrier frequency in NSCLP patients and controls. RESULTS: In the Honduran population, the odds ratio of having NSCLP among carriers of the p.Val496Ala ACSS2 variant was 4.0 (P = .03), with a carrier frequency of seven of 99 (7.1%) in unrelated affected and four of 215 (1.9%) in unrelated unaffected individuals. In the Colombian population, the odds ratio of having NSCLP among carriers of the p.Val496Ala ACSS2 variant was 2.6 (P = .04), with a carrier frequency of 23 of 230 (10.0%) in unrelated affected and six of 146 (4.1%) in unrelated unaffected individuals. CONCLUSIONS: These findings support the role of ACSS2 in NSCLP in two independent Hispanic populations from Honduras and Colombia. LEVEL OF EVIDENCE: NA Laryngoscope, 127:E336-E339, 2017.

[Basic questionnaire and methodological criteria for Surveys on Working Conditions, Employment, and Health in Latin America and the Caribbean]. / Cuestionario básico y criterios metodológicos para las Encuestas sobre Condiciones de Trabajo, Empleo y Salud en América Latina y el Caribe.

This article aimed to present a basic questionnaire and minimum methodological criteria for consideration in future Surveys on Working Conditions, Employment, and Health in Latin America and the Caribbean. A virtual and face-to-face consensus process was conducted with participation by a group of international experts who used the surveys available up until 2013 as the point of departure for defining the proposal. The final questionnaire included 77 questions grouped in six dimensions: socio-demographic characteristics of workers and companies; employment conditions; working conditions; health status; resources and preventive activities; and family characteristics. The minimum methodological criteria feature the interviewee's home as the place for the interview and aspects related to the quality of the fieldwork. These results can help improve the comparability of future surveys in Latin America and the Caribbean, which would in turn help improve information on workers' heath in the region.

Cuestionario básico y criterios metodológicos para las Encuestas sobre Condiciones de Trabajo, Empleo y Salud en América Latina y el Caribe / Basic questionnaire and methodological criteria for Surveys on Working Conditions, Employment, and Health in Latin America and the Caribbean / Questionário básico e critérios metodológicos para as Pesquisas sobre Condições de Trabalho, Emprego e Saúde na América Latina e Caribe

Resumen: El objetivo de este trabajo es presentar un cuestionario básico y criterios metodológicos mínimos, para ser considerados en futuras Encuestas sobre Condiciones de Trabajo, Empleo y Salud (ECTES) en América Latina y el Caribe. Para ello, se llevó a cabo un proceso de consenso, tanto virtual como presencial, con la participación de un grupo internacional de expertos que, para definir la propuesta, partieron de las encuestas disponibles en la región hasta 2013. El cuestionario final incluyó 77 preguntas agrupadas en seis dimensiones: características sociodemográficas del trabajador y la empresa; condiciones de empleo; condiciones de trabajo; estado de salud; recursos y actividades preventivas; y características familiares. Entre los criterios metodológicos mínimos destacan el domicilio de la persona entrevistada como lugar de la entrevista y los relacionados con la calidad del trabajo de campo. Estos resultados pueden ayudar a mejorar la comparabilidad de las futuras ECTES en América Latina y el Caribe, lo que contribuiría a mejorar la información en salud laboral en la región.

Abstract: This article aimed to present a basic questionnaire and minimum methodological criteria for consideration in future Surveys on Working Conditions, Employment, and Health in Latin America and the Caribbean. A virtual and face-to-face consensus process was conducted with participation by a group of international experts who used the surveys available up until 2013 as the point of departure for defining the proposal. The final questionnaire included 77 questions grouped in six dimensions: socio-demographic characteristics of workers and companies; employment conditions; working conditions; health status; resources and preventive activities; and family characteristics. The minimum methodological criteria feature the interviewee's home as the place for the interview and aspects related to the quality of the fieldwork. These results can help improve the comparability of future surveys in Latin America and the Caribbean, which would in turn help improve information on workers' heath in the region.

Resumo: O objetivo deste trabalho é apresentar um questionário básico e critérios metodológicos mínimos, para serem considerados em futuras pesquisas sobre Condições de Trabalho, Emprego e Saúde (ECTES) na América Latina e Caribe. Para tal, foi realizado um processo de consenso, tanto virtual como presencial, com a participação de um grupo internacional de expertos que, para definir a proposta, partiram das pesquisas disponíveis na região até 2013. O questionário final incluiu 77 perguntas agrupadas em seis dimensões: características sociodemográficas do trabalhador e a empresa; condições de emprego; condições de trabalho; estado de saúde; recursos e atividades preventivas; assim como características familiares. Entre os critérios metodológicos mínimos destacam-se o domicílio da pessoa entrevistada como lugar da entrevista e os relacionados com a qualidade do trabalho de campo. Estes resultados podem ajudar a melhorar a comparabilidade das futuras ECTES na América Latina e Caribe, o que contribuiria para melhorar a informação sobre saúde do trabalhador na região.

Validation of new psychosocial factors questionnaires: a Colombian national study.

BACKGROUND: The study of workers' health problems possibly associated with stressful conditions requires valid and reliable tools for monitoring risk factors. The present study validates two questionnaires to assess psychosocial risk factors for stress-related illnesses within a sample of Colombian workers. METHODS: The validation process was based on a representative sample survey of 2,360 Colombian employees, aged 18-70 years. Worker response rate was 90%; 46% of the responders were women. Internal consistency was calculated, construct validity was tested with factor analysis and concurrent validity was tested with Spearman correlations. RESULTS: The questionnaires demonstrated adequate reliability (0.88-0.95). Factor analysis confirmed the dimensions proposed in the measurement model. Concurrent validity resulted in significant correlations with stress and health symptoms. CONCLUSIONS: "Work and Non-work Psychosocial Factors Questionnaires" were found to be valid and reliable for the assessment of workers' psychosocial factors, and they provide information for research and intervention.

Design of psychosocial factors questionnaires: a systematic measurement approach.

BACKGROUND: Evaluation of psychosocial factors requires instruments that measure dynamic complexities. This study explains the design of a set of questionnaires to evaluate work and non-work psychosocial risk factors for stress-related illnesses. METHODS: The measurement model was based on a review of literature. Content validity was performed by experts and cognitive interviews. Pilot testing was carried out with a convenience sample of 132 workers. Cronbach's alpha evaluated internal consistency and concurrent validity was estimated by Spearman correlation coefficients. RESULTS: Three questionnaires were constructed to evaluate exposure to work and non-work risk factors. Content validity improved the questionnaires coherence with the measurement model. Internal consistency was adequate (α = 0.85-0.95). Concurrent validity resulted in moderate correlations of psychosocial factors with stress symptoms. CONCLUSIONS: Questionnaires' content reflected a wide spectrum of psychosocial factors sources. Cognitive interviews improved understanding of questions and dimensions. The structure of the measurement model was confirmed.

Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations.

OBJECTIVES/HYPOTHESIS: Orofacial clefts are the most common craniofacial birth defects in humans, with the majority of orofacial clefts occurring as nonsyndromic cleft lip with or without cleft palate (NSCLP). We previously demonstrated associations between single-nucleotide polymorphisms (SNPs) in the IRF6 gene and NSCLP in the Honduran population. Here we investigated other candidate genes and chromosomal regions associated with NSCLP identified from genome-wide association studies (GWAS), including MAFB, ABCA4, 8q24, 9q22, 10q25, and 17q22 in two independent Hispanic populations. STUDY DESIGN: Case-control and family-based association testing. METHODS: Honduran families with two or more members with NSCLP (multiplex) were identified. DNA was collected from affected and unaffected family members (488) and 99 gender-matched controls. NSCLP Colombian families were identified; DNA was collected from 26 proband-parent trios. All participants were genotyped for 17 SNPs in six chromosomal regions. Case-control association and family-based association testing (FBAT) analyses were conducted. RESULTS: Seven SNPs demonstrated association in at least one model in the Honduran population. In the Colombian families, five SNPs demonstrated significance in FBAT when patients with isolated cleft palate (CP) were included; four overlapped with SNPs demonstrating significance in the Honduran population, two with the same allele. One SNP retained significance with CP excluded. CONCLUSIONS: This study supports the previous GWAS findings and is the first to suggest a role for FOXE1, ABCA4, and MAFB in orofacial clefting in two separate Hispanic populations.

Association of common variants, not rare mutations, in IRF6 with nonsyndromic clefts in a Honduran population.

OBJECTIVES/HYPOTHESIS: Cleft lip with or without cleft palate (CL/P) is a common birth defect throughout the world. Linkage studies have shown interferon regulatory factor 6 (IRF6) to be associated with CL/P in multiple populations, including one in Honduras. It is unknown, however, whether rare sporadic mutations or common variants are the cause of this association, and reports exist supporting both hypotheses. Thus, it is important to determine the cause for this association in a Honduran population. STUDY DESIGN: Case-control and family-based association studies. METHODS: Families with two or more members affected by CL/P were identified. We collected DNA from affected and unaffected family members (608 total), and from 100 gender-matched controls from Honduras. We sequenced the exons of IRF6 for mutations in probands and controls. All patients were genotyped for single nucleotide polymorphisms (SNPs) rs642961 and rs2235371, which are proposed to have potential biological significance to IRF6 expression and function. RESULTS: We found no mutations in IRF6 in our CL/P probands. We found a risk association with the G allele of rs2235371 in both case-control (P = .01) and family-based association (P = .01) studies. We found no association with either allele of rs642961. CONCLUSIONS: This study suggests that common variants, rather than rare mutations, are the cause for association between IRF6 and nonsyndromic CL/P. rs2235371, but not rs642961, shows association with CL/P, suggesting a functional role for this polymorphism in our Honduran population. rs642961 has been previously reported to have an effect in other populations, suggesting that different populations may be affected by different polymorphisms.

Novel IRF6 mutations in Honduran Van der Woude syndrome patients.

Van der Woude syndrome (VWS) is an autosomal dominant inherited disease characterized by lower lip pits, cleft lip and/or cleft palate. Missense, nonsense and frameshift mutations in IRF6 have been revealed to be responsible for VWS in European, Asian, North American and Brazilian populations. However, the mutations responsible for VWS have not been studied in Central American populations. Here, we investigated the role of IRF6 in patients with VWS in a previously unstudied Honduran population. IRF6 mutations were identified in four out of five VWS families examined, which strongly suggests that mutations in IRF6 are responsible for VWS in this population. We reported three novel mutations and one previously described mutation. In the first family, a mother and daughter both exhibited a p.N88I mutation in the DNA-binding region of IRF6 that was not present in unaffected family members. In the second, we found a unique p.K101QfsX15 mutation in the affected patient, leading to a frameshift and early stop codon. In the third, we identified a p.Q208X mutation occurring in exon 6. In the fourth, we found a nonsense mutation in exon 9 (p.R412X), previously described in Brazilian and Northern European populations. In the fifth, we did not identify any unique exonic missense, nonsense or frameshift mutations. This study reports the first cases of IRF6 mutations in VWS patients in a Central American population, further confirming that the causal link between IRF6 and VWS is consistent across multiple populations.

The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population.

OBJECTIVES/HYPOTHESIS: Interferon regulatory factor 6 (IRF6), the gene that causes van der Woude syndrome (VWS), is a candidate gene for nonsyndromic cleft lip with or without cleft palate (NSCLP) because a number of studies have supported an association between NSCLP and single nucleotide polymorphisms (SNPs) in IRF6 in several populations. This project investigated the contribution of IRF6 to NSCLP in the Honduran population, a previously unstudied group with a high prevalence of NSCLP. STUDY DESIGN: Family-based joint linkage and association study. METHODS: A set of five SNPs in and around IRF6 previously reported to be associated with NSCLP were tested for association with NSCLP in 276 affected and unaffected Honduran individuals from 59 families with at least two members affected by clefting and at least one member with confirmed NSCLP. RESULTS: We observed support of linkage for three SNPs-rs1856161, rs2235371, and rs2235377-under a dominant model (log of odds [LODs] = 1.97, 1.56, 1.73, respectively). Subsequent single-point, haplotype, and joint linkage and association analyses continued to support the association with NSCLP (P < or = .05) at these three SNPs. When analysis was restricted to NSCLP cases, excluding cleft palate only cases, support for association strengthened. CONCLUSIONS: This is the first study to demonstrate that three candidate SNPs within IRF6 are significantly associated with NSCLP in the Honduran population, providing the first genetic clue to NSCLP observed in the Honduran population and confirming findings from populations in other parts of the world. Further studies are needed to identify the putative variant(s).

[Angioplasty stenting with Sirolimus (rapamycin) eluting stents in type 2 diabetic patients]. / Angioplastia con stents liberadores de rapamicina en diabéticos tipo 2: experiencia del Hospital DIPRECA.

BACKGROUND: Drug-eluting stents have been developed to reduce the rates of restenosis after coronary angioplasty. Several studies have demonstrated that rapamycin eluting stents are reliable and effective. AIM: To report the experience in our Health Centre with rapamycin-eluting stents. PATIENTS AND METHODS: Forty two stents with rapamicine were implanted to 32 diabetic patients, between June 2002 and December 2004. After the procedure, subjects were clinically followed-up for an average period of 19.9+/-9.9 months, evaluating functional capacity, angina pectoris, dyspnea, need for hospital admission, acute coronary events and cardiac death. In those subjects clinically suspected to have restenosis, a coronary angiography was performed. RESULTS: Twenty-nine subjects (90.6%) remained asymptomatic, two subjects (6.3%) developed angina pectoris but restenosis was ruled out, and one subject (3.1%) died. CONCLUSIONS: The use of rapamycin-eluting stents in these patients was safe and successful with no evidence of clinic restenosis. These positive results are similar to those reported in the Diabetes Study.

Tratamento não-farmacológico da síndrome metabólica: visão do psicólogo e do nutricionista / Non-pharmacological treatment of the metabolic syndrome: psychologist and nutritionist vision

Os hábitos de vida são multifatorialmente determinados, coexistindo aspectos nutricionais, psicológicos, sociais e relativos à atividade física, o que requer a necessidade de uma intervenção complexa para modificá-Ios. A intervenção não-farmacológica na síndrome metabólica está baseada, fundamentalmente, em programas interdisciplinares que visem a mudança de estilo de vida, contribuindo assim para a redução da incidência de complicações decorrentes da síndrome. O objetivo desse artigo é caracterizar fatores emocionais associados à etiologia da síndrome metabólica e caracterizar a instrumentalização do paciente sobre re-educação alimentar, com enfoque na identificação dos fatores dificultadores da efetiva mudança de estilo de vida. Para tanto, a estratégia de intervenção utilizada é interdisciplinar. Os resultados parciais dessa intervenção também estão descritos nesse artigo. Nessa abordagem verificou-se perda ponderal, com redução do índice de massa corpórea e da circunferência abdominal; melhora da percepção de risco da doença como um todo, redução da resistência a mudanças e conscientização quanto à associação entre o excesso alimentar e a condição psíquica, favorecendo a adoção de novos hábitos de vida

Hábitos básicos de salud y creencias sobre salud y enfermedad en adolescentes de España, Colombia y México / Basic habits and beliefs about health and illness among adolescents from Spain, Colombia and Mexico

En el presente estudio se han analizado los hábitos de alimentación y actividad física y las creencias sobre salud y enfermedad de una muestra de 954 adolescentes de ambos sexos (promedio 12,36±2,06 años) de España (321), Colombia (401) y México (232), empleando un cuestionario sobre hábitos de salud y creencias sobre salud y enfermedad. Los resultados indican que el 58 por ciento de los participantes muestra un perfil de riesgo en alimentación, y el 62,9 por ciento presenta un perfil de riesgo en actividad física. Las comparaciones entre países indican peores perfiles de hábitos de alimentación para la muestra colombiana frente a la mexicana y la española, y peores perfiles de hábitos de actividad física para la muestra española en comparación con las de los otros países. Los resultados confirman que la adolescencia es un momento clave en la formación de las creencias sobre salud y enfermedad con el 61 por ciento de los sujetos mostrando un patrón indefinido de creencias sobre salud y el 54 por ciento un perfil indefinido de creencias sobre la enfermedad, con diferencias significativas entre las muestras de los distintos países

Vigilancia epidemiológica de los factores psicosociales: aproximación conceptual y valorativa / Epidemiological surveillance of psychosocial factors, conceptual and valuating approachs

Los factores psicosociales han cobrado especial importancia por cuanto los estudios acerca del estrés y sus secuelas han mostrado el crecimiento de afecciones de salud en la población y con mayor énfasis en la trabajadora, en la que la exposición a condiciones de laborales deteriorantes alcanza cifras que pueden catalogarse como un problema emergente de la salud pública. La atención y la prevención de los efectos adversos del estrés ocupacional suponen su comprensión y su abordaje bajo un modelo sistémico, que permita dar cuenta tanto de la red de factores causales como de los impactos tanto en el nivel subjetivo como colectivo. La Vigilancia Epidemiológica de los factores psicosociales se vislumbra como una alternativa que permite de forma sistemática tomar información de las características de la organización, de la tarea del grupo social y de las condiciones de salud de los trabajadores, a fin de realizar acciones de intervención, que con adecuado seguimiento permitan mostrar su impacto y den soporte a los procesos de atención y al mismo tiempo de investigación en las cohortes ocupacionales.

Sistemas informáticos clínicos y de gestión: repartición prestaciones de salud del Banco de Previsión Social / Information systems in a Health Service Office of the Banco de Previsión Social

El Banco de Previsión Social del Uruguay realiza actividades en salud consistentes en prestaciones al trabajador procurando fundamentalmente su recuperación laboral. Además se ocupa de prestaciones sanitarias a la familia, representadas fundamentalmente por la asistencia Materno-Infantil que está a cargo de la Repartición Prestaciones de Salud. Durante 1996 y 1997, se realizaron consultorías que definieron la necesidad de fortalecer institucionalmente la Repartición Prestaciones de Salud. A partir de octubre de 1997, con la contratación de profesionales médicos e informáticos, se comenzó la primera etapa de un proceso de transformación de la repartición, consistente en implementar acciones para mejorar la captura de la información y comunicación intrainstitucional mediante el uso de herramientas informáticas. Se definieron prioridades: entre las mismas se destaca un mejor control de acceso de beneficiarios a la repartición, la producción de indicadores de recursos humanos y de servicios tercerizados por la institución, el sistema informático de abastecimiento de medicamentos e insumos médicos y algunas aplicaciones de uso clínico. De acuerdo a dichas prioridades, se definió e instaló la infraestructura necesaria para su soporte, se organizó y supervisó la capacitación de recursos humanos en herramientas de ofimática y correo electrónico, y se trabajó en el diseño y la implantación de soluciones informáticas para las áreas seleccionadas. Con respecto a la segunda etapa del proceso de transformación, en el mes de junio de 1998 se coordinaron las actividades de varios grupos de trabajo, elaborándose el Proyecto de Mejora de Gestión para la Repartición Prestaciones de Salud. Esta experiencia de transformación e implementación de sistemas de información es trasladable a otras instituciones de asistencia médica del sector público o privado

Sistemas informáticos clínicos y de gestión. Repartición prestaciones de salud del Banco de Previsión Social / Information systems in a Health Service Office of the Banco de Previsión Social

El Banco de Previsión Social del Uruguay realiza actividades en salud consistentes en prestaciones al trabajador procurando fundamentalmente su recuperación laboral. Además se ocupa de prestaciones sanitarias a la familia, representadas fundamentalmente por la asistencia Materno-Infantil que está a cargo de la Repartición Prestaciones de Salud. Durante 1996 y 1997, se realizaron consultorías que definieron la necesidad de fortalecer institucionalmente la Repartición Prestaciones de Salud. A partir de octubre de 1997, con la contratación de profesionales médicos e informáticos, se comenzó la primera etapa de un proceso de transformación de la repartición, consistente en implementar acciones para mejorar la captura de la información y comunicación intrainstitucional mediante el uso de herramientas informáticas. Se definieron prioridades: entre las mismas se destaca un mejor control de acceso de beneficiarios a la repartición, la producción de indicadores de recursos humanos y de servicios tercerizados por la institución, el sistema informático de abastecimiento de medicamentos e insumos médicos y algunas aplicaciones de uso clínico. De acuerdo a dichas prioridades, se definió e instaló la infraestructura necesaria para su soporte, se organizó y supervisó la capacitación de recursos humanos en herramientas de ofimática y correo electrónico, y se trabajó en el diseño y la implantación de soluciones informáticas para las áreas seleccionadas. Con respecto a la segunda etapa del proceso de transformación, en el mes de junio de 1998 se coordinaron las actividades de varios grupos de trabajo, elaborándose el Proyecto de Mejora de Gestión para la Repartición Prestaciones de Salud. Esta experiencia de transformación e implementación de sistemas de información es trasladable a otras instituciones de asistencia médica del sector público o privado(AU)