Is there a common genetic basis for autoimmune diseases?

Autoimmune diseases (ADs) represent a diverse collection of diseases in terms of their demographic profile and primary clinical manifestations. The commonality between them however, is the damage to tissues and organs that arises from the response to self-antigens. The presence of shared pathophysiological mechanisms within ADs has stimulated searches for common genetic roots to these diseases. Two approaches have been undertaken to sustain the “common genetic origin” theory of ADs. Firstly, a clinical genetic analysis showed that autoimmunity aggregates within families of probands diagnosed with primary Sjögren's (pSS) syndrome or type 1 diabetes mellitus (T1D). A literature review supported the establishment of a familiar cluster of ADs depending upon the proband's disease phenotype. Secondly, in a same and well-defined population, a large genetic association study indicated that a number of polymorphic genes (i.e. HLA-DRB1, TNF and PTPN22) influence the susceptibility for acquiring different ADs. Likewise, association and linkage studies in different populations have revealed that several susceptibility loci overlap in ADs, and clinical studies have shown that frequent clustering of several ADs occurs. Thus, the genetic factors for ADs consist of two types: those which are common to many ADs (acting in epistatic pleitropy) and those that are specific to a given disorder. Their identification and functional characterization will allow us to predict their effect as well as to indicate potential new therapeutic interventions. Both autoimmunity family history and the co-occurrence of ADs in affected probands should be considered when performing genetic association and linkage studies.

What are the priorities for prevention and control of non-communicable diseases and injuries in sub-Saharan Africa and South East Asia?

Last year’s UN high level meeting sought to galvanise the international community into scaling up its response to the escalating global burden of non-communicable diseases. With resources tight, D Chisholm and colleagues examine which interventions should be given priority for action and investment

Should rituximab be considered as the first-choice treatment for severe autoimmune rheumatic diseases?

The present study aimed to assess the tolerance and efficacy of rituximab (RTX), a chimeric IgG1 monoclonal antibody directed against the CD20 receptor present in B lymphocytes, in patients with autoimmune rheumatic diseases (AIRD). For this purpose, patients treated with RTX and their respective clinical charts were comprehensively examined. Indications for treatment were a refractory character of the disease, inefficacy or intolerance of other immunosuppressors. Activity indexes (SLEDAI, DAS28, and specific clinical manifestations) were used to evaluate efficacy. Serious side effects were also recorded. Seventy-four patients were included. Forty-three patients had systemic lupus erythematosus (SLE), 21 had rheumatoid arthritis (RA), 8 had Sjögren’s syndrome (SS), and 2 had Takayasu’s arteritis (TA). RTX was well-tolerated in 66 (89%) patients. In 8 patients (SLE = 3, SS = 3, RA = 2), serious side effects lead to discontinuation. The mean follow-up period was 12 ± 7.8 (2–35) months. The efficacy of RTX was registered in 58/66 (87%) patients, of whom 36 (83%) had SLE, 18/21 (85%) had RA, 3/8 (37%) had SS, and 1 had TA. The mean time of efficacy was 6.3 ± 5.1 weeks. A significant steroid-sparing effect was noticed in half of the patients. These results add further evidence for the use of RTX in AIRD. Based on its risk–benefit ratio, RTX might be used as the first-choice treatment for patients with severe AIRD.

How do autoimmune diseases cluster in families? A systematic review and meta-analysis

Background: A primary characteristic of complex genetic diseases is that affected individuals tend to cluster in families (that is, familial aggregation). Aggregation of the same autoimmune condition, also referred to as familial autoimmune disease, has been extensively evaluated. However, aggregation of diverse autoimmune diseases, also known as familial autoimmunity, has been overlooked. Therefore, a systematic review and meta-analysis were performed aimed at gathering evidence about this topic. Methods: Familial autoimmunity was investigated in five major autoimmune diseases, namely, rheumatoid arthritis, systemic lupus erythematosus, autoimmune thyroid disease, multiple sclerosis and type 1 diabetes mellitus. Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines were followed. Articles were searched in Pubmed and Embase databases. Results: Out of a total of 61 articles, 44 were selected for final analysis. Familial autoimmunity was found in all the autoimmune diseases investigated. Aggregation of autoimmune thyroid disease, followed by systemic lupus erythematosus and rheumatoid arthritis, was the most encountered. Conclusions: Familial autoimmunity is a frequently seen condition. Further study of familial autoimmunity will help to decipher the common mechanisms of autoimmunity.

Plasmapheresis vs. immunoglobulin in autoimmune neurologic diseases: a meta-analysis

Objectives: to evaluate the efficacy and safety of human immunoglobulin versus plasmapheresis in the management of autoimmune neurologic diseases. Likewise, length of hospital stay and duration of ventilator support were compared. Methods: Randomized controlled trials and analytical observational studies of more than 10 cases, were reviewed. Cochrane Neuromuscular Disease Group trials, MEDLINE, EMBASE, HINARI Ovid, the Database of abstracts of reviews of effectiveness and the Economic evaluation Database were searched as data source. Reference lists were examined for further relevant articles. A random-effect model was used to derive a pooled risk ratio. Results: 725 articles were found and 27 met the criteria for a population studied of 4717 cases: 14 articles were about Guillain Barré syndrome, 10 of Myasthenia Gravis, one of Sydenham Chorea, one of Chronic inflammatory demyelinating polyneuropathy, and one of PANDAS. No evidence was found in favor of any of the two treatments as regards effectiveness (OR 0.94, IC 0.63 – 1.41, p= 0.77) or ventilator support time; IGIV had a significant better safety profile than plasmapheresis (OR 0.70, IC 0.51 – 0.96, p= 0.03) and patients needed less time of hospital stay (p=0.03). Conclusions: There is no evidence for superiority in the effectiveness of immunoglobulin or plasmapheresis in the management of autoimmune neurologic diseases. Nevertheless, patients treated with immunoglobulin have statistically significant less adverse effects, a shorter hospital stay and a tendency of less ventilator support time. These premises could lead to fewer costs for health services but an economic study should be done.

Clinical prediction of occupational and non-specific low back pain

Non-specific Occupational Low Back Pain (NOLBP) is a health condition that generates a high absenteeism and disability. Due to multifactorial causes is difficult to determine accurate diagnosis and prognosis. The clinical prediction of NOLBP is identified as a series of models that integrate a multivariate analysis to determine early diagnosis, course, and occupational impact of this health condition. Objective: to identify predictor factors of NOLBP, and the type of material referred to in the scientific evidence and establish the scopes of the prediction. Materials and method: the title search was conducted in the databases PubMed, Science Direct, and Ebsco Springer, between1985 and 2012. The selected articles were classified through a bibliometric analysis allowing to define the most relevant ones. Results: 101 titles met the established criteria, but only 43 metthe purpose of the review. As for NOLBP prediction, the studies varied in relation to the factors for example: diagnosis, transition of lumbar pain from acute to chronic, absenteeism from work, disability and return to work. Conclusion: clinical prediction is considered as a strategic to determine course and prognostic of NOLBP, and to determine the characteristics that increase the risk of chronicity in workers with this health condition. Likewise, clinical prediction rules are tools that aim to facilitate decision making about the evaluation, diagnosis, prognosis and intervention for low back pain, which should incorporate risk factors of physical, psychological and social.

Exploratory Study on Occupational Health Exposure to Chemical Agents, in a Public Hospital in Valencia, Venezuela. Preliminar Assessment

Descriptive study that identified chemical agents (AQ) use and training on risk management and waste disposal techniques in a public Hospital in Valencia. A questionnaire was answered by 48 workers. Information obtained was: personal data, occupational history, AQ used; knowledge of risk management and waste disposal. There were 16 occupations from 12 “High Risk” areas. “Adult emergency” was the one with more workers (11 individuals), followed by “sterilization” and “clinical laboratory” (7 each) and oncology (5). The remained areas had less than 8.3% workers. The most used anesthetic agents were: Halothane, Enfluorane and Isofluorane 4.17% each and main antineoplastics used were: Doxorubicin 16.67% and Paclitaxel, 5-Fluoracil and Etoposide, 8.33% each. The most mentioned substances were: alcohol (70.8%) and Chlorine (64.6%). None of the answers regarding knowledge of AQ’ risk management and waste disposal was satisfactory. Statistical associations between training and several variables such as age, time in their job and being or not a professional, resulted non-significant. The correlation between training and the knowledge of AQ’s management was significant (p < 0.001). Participants showed that their knowledge about chemical occupational risk factors they are exposed to is still insufficient. Therefore, this theme should be included in graduate course curricula. These results provide important data and will serve as a pilot research for the follow up Phase II study that will include clinical aspects and environmental and biological monitoring.

Postgraduate Education for Physical Therapists at Cardiopulmonary Area in Colombia

This paper presents the supply of postdegree programs in the cardiopulmonary area in Colombia in orden to show its state and sufficiency. Plans of formation, objectives, curricular approach, methodology and profile of performance are analyzed in terms of costs, duration, supply, location and research capabilities. Our results show problems in regard to supply as well as unanimous criteria and strategic alliances. There are no Gremial associations that favor both discussion and analysis about epidemiologist aspects of respiratory and cardiovascular diseases in Colombia there is necessity of professionals in this area with experience. Knowledge and appropiated skills in management, administration, laws, agreements and public policies that cover the affected population. Also, it is exposed that the Universities whit this programs require support and pursuit for professionals positioning both in national and international context.Methodology A descriptive study was carried out with a data collection made in a period between April-December of 2006. Cards were done and they allowed to review different aspects such as costs, occupational profile, duration, modality, methodology, practical component and evaluation in the offering universities of programs of postdegree in the cardiopulmonary area for physiotherapists. Later an analysis was made on curriculum, profiles, objectives, contents, professional competitions the areas of research.

The effect of the occupational mortality over the economy. Magdalena’s Fevers and tobacco farming in Colombia in XIX century

It is aimed at reviewing the effect reflected in the quality and quantity of tobacco exportation with the appearance of Magdalena Fevers in the Ambalema zone (Colombia), between 1856 and 1870. The research explores the effect of labor over health and the effect of health over labor in this stage of the Colombian export development. By formulating an econometric model it is possible to establish whether the epidemic outbreaks of fevers were a relevant factor in explaining the behavior of tobacco exports from Ambalema to the outside. The analysis of the empirical data shows that it is possible that a fall on the exports in about 72,000 tobacco sacks per year caused by the fevers in the studied region, as well as a negative effect of the disease on the tobacco prices.

Grado de pérdida de capacidad laboral asociada a la comorbilidad de los desórdenes músculo esqueléticos en la junta de calificación de invalidez regional Huila, 2009-2012

Resumen: Los desórdenes músculo esqueléticos son entidades que generan un efecto en la salud relacionados con la calidad de vida, dado al impacto global en la condición física, el bienestar psicológico y funcional. Estas entidades generan un gran número de indemnizaciones y en algunas oportunidades según el grado de pérdida de capacidad laboral la invalidez. Objetivo: Determinar la asociación del grado de perdida de la capacidad laboral con la comorbilidad de los desórdenes músculo esqueléticos y otros factores asociados. Materiales y métodos: Se realizó un estudio de corte transversal, basado en registros e historias clínicas. Los registros iniciales fueron 1427 casos, de los cuales 513 presentaban diagnóstico de DME y de estos 240 solicitaron la pérdida de capacidad laboral a la junta de invalidez regional Huila en el periodo comprendido del 2009 al 2012. Resultados: La distribución del grado de la pérdida de capacidad laboral generada de los DME por incapacidad permanente parcial fue del 73,3% y por invalidez el 26,7%. Se encontró una asociación significativa con respecto a la edad (p=0,002), donde el rango de 50-65 años presento mayor pérdida de capacidad laboral; con el género (p=0,047), siendo el femenino más prevalente la invalidez (34,7%) que en el masculino (23,2%) y la comorbilidad (p=0,019), donde los desórdenes músculo esqueléticos y los trastornos depresivos generaron mayor pérdida de capacidad laboral. No se encontró asociación significativa con la escolaridad (p=0,167), oficio (p=0,442) y actividad económica (p=0,118). En el análisis multivariado se encontró asociación significativa con el origen común (OR=4.028, IC 95%: 2.010, 8.072), el sexo femenino (OR=2.565, IC 95%: 1.140, 5.771), y el nivel de escolaridad técnico (OR=12.208, IC 95%: 1.372, 108.634). Conclusiones: La comorbilidad generó mayor pérdida de capacidad laboral, aunque los factores que en conjunto mostraron asociación fueron la edad avanzada, el género femenino, el origen común y el menor nivel educativo.

“Factores asociados con la calificación del origen del síndrome de manguito rotatorio en trabajadores afiliados a una entidad promotora de salud privada”.

El dolor de hombro es una de las causas más frecuentes de consulta médica general. El Síndrome de Manguito Rotatorio emerge durante los años 2003 y 2004 como la quinta causa de morbilidad profesional en Colombia, ocupando el segundo lugar a nivel del miembro superior. La gran mayoría de estudios han encontrado una clara relación entre los trastornos musculoesqueléticos de hombro y el tipo de trabajo. Se ha descrito una alta relación del hombro doloroso asociado a profesiones manualmente intensas, es evidente la asociación entre la actividad laboral con el brazo elevado con patologías de hombro. Dentro de los factores individuales predisponentes se encuentran: Edad mayor, género femenino, dominancia del miembro superior, alto índice de masa corporal, sintomatología osteomuscular previa, baja realización de ejercicio, embarazo; hábitos de consumo y enfermedades metabólicas concomitantes. Se realizó un estudio descriptivo de corte transversal, examinando las historias clínicas de 117 trabajadores calificados por diagnóstico de Síndrome de Manguito Rotatorio en el área de Medicina Laboral de una Entidad Promotora de Salud privada, durante año 2.013. El objetivo principal de este estudio fue identificar las variables relacionadas como factores influyentes en la causalidad de esta patología. Se estudió la asociación bivariada entre los diferentes factores de riesgo (personales y laborales) de interés y la determinación del origen laboral del Síndrome de Manguito Rotatorio mediante la obtención de la medida de asociación correspondiente (Odds ratio). La investigación permitió identificar que el mayor porcentaje de calificación del origen del S.M.R. es el laboral con el 86.6% de la población estudiada, el 11.8% restante tiene una calificación de origen común. Todos los trabajadores estudiados presentaron sintomatología dolorosa a nivel del hombro en calificación 100%. La imagen diagnostica utilizada para la calificación de la patología fue la Resonancia Magnética de hombro 97.5%. Se encontró relación de causalidad entre la presentación de la patología con el género femenino, la edad con rango entre 30 y 45 años, el hábito de fumar y la no realización de ejercicio. Como conclusión final se obtiene que los resultados obtenidos concuerdan con lo descrito en la literatura a nivel mundial en trabajadores, en los cuales influyen los aspectos personales y laborales descritos como variables en el presente estudio con relación a la calificación del origen laboral del Síndrome de Manguito Rotatorio.

Polimorfismos del gen Butirilcolinesterasa responsables de reacciones adversas en pacientes consumidores de “cocaína”

La butirilcolinesterasa humana (BChE; EC 3.1.1.8) es una enzima polimórfica sintetizada en el hígado y en el tejido adiposo, ampliamente distribuida en el organismo y encargada de hidrolizar algunos ésteres de colina como la procaína, ésteres alifáticos como el ácido acetilsalicílico, fármacos como la metilprednisolona, el mivacurium y la succinilcolina y drogas de uso y/o abuso como la heroína y la cocaína. Es codificada por el gen BCHE (OMIM 177400), habiéndose identificado más de 100 variantes, algunas no estudiadas plenamente, además de la forma más frecuente, llamada usual o silvestre. Diferentes polimorfismos del gen BCHE se han relacionado con la síntesis de enzimas con niveles variados de actividad catalítica. Las bases moleculares de algunas de esas variantes genéticas han sido reportadas, entre las que se encuentra las variantes Atípica (A), fluoruro-resistente del tipo 1 y 2 (F-1 y F-2), silente (S), Kalow (K), James (J) y Hammersmith (H). En este estudio, en un grupo de pacientes se aplicó el instrumento validado Lifetime Severity Index for Cocaine Use Disorder (LSI-C) para evaluar la gravedad del consumo de “cocaína” a lo largo de la vida. Además, se determinaron Polimorfismos de Nucleótido Simple (SNPs) en el gen BCHE conocidos como responsables de reacciones adversas en pacientes consumidores de “cocaína” mediante secuenciación del gen y se predijo el efecto delos SNPs sobre la función y la estructura de la proteína, mediante el uso de herramientas bio-informáticas. El instrumento LSI-C ofreció resultados en cuatro dimensiones: consumo a lo largo de la vida, consumo reciente, dependencia psicológica e intento de abandono del consumo. Los estudios de análisis molecular permitieron observar dos SNPs codificantes (cSNPs) no sinónimos en el 27.3% de la muestra, c.293A>G (p.Asp98Gly) y c.1699G>A (p.Ala567Thr), localizados en los exones 2 y 4, que corresponden, desde el punto de vista funcional, a la variante Atípica (A) [dbSNP: rs1799807] y a la variante Kalow (K) [dbSNP: rs1803274] de la enzima BChE, respectivamente. Los estudios de predicción In silico establecieron para el SNP p.Asp98Gly un carácter patogénico, mientras que para el SNP p.Ala567Thr, mostraron un comportamiento neutro. El análisis de los resultados permite proponer la existencia de una relación entre polimorfismos o variantes genéticas responsables de una baja actividad catalítica y/o baja concentración plasmática de la enzima BChE y algunas de las reacciones adversas ocurridas en pacientes consumidores de cocaína.

Análisis de la producción escrita en revistas internacionales especializadas en terapia ocupacional (American Journal of Occupational Therapy – Canadian Journal of Occupational Therapy) sobre el concepto de desempeño ocupacional en el periodo comprendido entre 1996 – 2006

En todas las etapas de la vida, las personas se encuentran influenciadas por el ambiente, el cual es un facilitador o inhibidor para el desarrollo de sus actividades, permitiéndole elegir qué ocupaciones desea desempeñar de acuerdo a sus intereses y habilidades. Es por ello que el presente trabajo sustenta el objeto de estudio por medio de la revisión, análisis y reflexión de textos especializados en terapia ocupacional en el periodo comprendido entre 1996 – 2006, en las revistas Canadiense y Americana de Terapia Ocupacional, encontradas en la Biblioteca Ciencias de la Salud de la Universidad del Rosario.

Occupational therapy and its relevance in social projects. relationships, learning and opportunities: collection of experiences of University of Alberta Mscot students in Bogotá, Colombia

Occupational therapists are equipped to promote wellbeing through occupation and to enable participation and meaningful engagement of people in their social and physical environments (WFOT, 2012). As such, the role of the occupational therapists is profoundly linked to the social, cultural and environmental characteristics of the contexts in which occupations take place. The central role that context plays in occupational performance creates an interesting dichotomy for the occupational therapist: on one hand, a profound understanding of cultural and social factors is required from the Occupational Therapy (OT) in order to develop a meaningful and successful collaboration with the person; on the other hand, the ability of the occupational therapists to recognize and explore the contextual factor of an occupation-person dyad transcends cultural and spatial barriers. As a result, occupational therapists are equipped to engage in international collaboration and practice, and as such face unique and enriching challenges. International fieldwork experiences have become a tool through which occupational therapists in training can develop the critical skills for understanding the impact of cultural and social factors on occupation. An OT student in an international fieldwork experience faces numerous challenges in leading a process that is both relevant and respectful to the characteristics of the local context: language, cultural perceptions of occupation and personhood, religious backgrounds, health care access, etc. These challenges stand out as ethical considerations that must be considered when navigating an international fieldwork experience (AOTA, 2009). For more than five years now, the Faculty of Rehabilitation Medicine (FRM) of the University of Alberta (UoFA) and the School of Medicine and Health Sciences at the Universidad del Rosario (UR), Bogota, Colombia, have sustained a productive and meaningful international collaboration. This collaboration includes a visit by Dr. Albert Cook, professor of the FRM and former dean, to the UR as the main guest speaker in the International Congress of Technologies for Disability Support (IBERDISCAP) in 2008. Furthermore, Dr. Cook was a speaker in the research seminar of the Assistive Technology Research Group of the Universidad del Rosario. Following Dr. Cook’s visit, Professors Liliana Álvarez and Adriana Ríos travelled to Edmonton and initiated collaboration with the FRM, resulting in the signing of an agreement between the FRM and the UR in 2009, agreement that has been maintained to this day. The main goal of this agreement is to increase academic and cultural cooperation between the UR and the UofA. Other activities have included the cooperation between Dr. Kim Adams (who has largely maintained interest and effort in supporting the capacity building of the UR rehabilitation programs in coordinating the provision of research placement opportunities for UR students at the UofA), an Assistive Technology course for clinicians and students led by Dr. Adams, and a research project that researched the use of basic cell phones to provide social interaction and health information access for people with disabilities in a low-income community in Colombia (led by Tim Barlott, OT, MSc, under the supervision of Dr. Adams). Since the beginning, the occupational therapy programs of the Universidad del Rosario and the University of Alberta have promoted this collaboration and have strived to engage in interactions that provide further development opportunities for students and staff. As part of this process, the international placement experience of UofA OT students was born under the leadership of: Claudia Rozo, OT program director at UR, placement and academic leadership of Elvis Castro and Angélica Monsalve, professors of the occupational therapy program at UR; and Dr. Lili Liu, OT department director at UofA, Cori Schmitz, Academic coordinator of clinical education at the UofA; and Tim Barlott and Liliana Álvarez leading the international and cross-cultural aspect of this collaboration.This publication summarizes and illustrates the process of international placement in community settings in Colombia, undertaken by occupational therapy students of the University of Alberta. It is our hope that this document can provide and document the ethical considerations of international fieldwork experience, the special characteristics of communities and the ways in which cultural and social competences are developed and help international students navigate the international setting. We also hope that this document will stimulate discussion among professional and academic communities about the importance and richness of international placement experiences and encourage staff and students to articulate their daily efforts with the global occupational therapy agenda.

Caracterización del ausentismo laboral en una empresa de telecomunicaciones de Colombia

El ausentismo laboral es un problema para la economía de las empresas y para la sociedad en general, su principal causa son las enfermedades de origen común. Los costos totales son difíciles de cuantificar por la cantidad de factores que influyen en él. METODOLOGIA: Estudio descriptivo de corte transversal que caracterizó el ausentismo laboral teniendo como fuente la base de datos de una empresa del sector terciario de la economía Colombiana, dedicada a las telecomunicaciones a nivel nacional. Se tomó como población universo 3.647 trabajadores a mitad de año de 2013. La población objeto de estudio la conformaron 889 trabajadores que se incapacitaron desde el 1 de enero de 2013 al 31 de diciembre de 2013. RESULTADOS: Se presentaron por enfermedad común 1.097 (83,87%)incapacidades, 740 (83,24%) incapacitados y 7.526 (57,28%) de días perdidos. Las mujeres son las que presentaron mayor número de incapacidades 63,3% (694). Según la clasificación de grupos diagnósticos del CIE 10, el sistema que generó mayor número de días perdidos fue el osteomuscular con el 13,40%. El diagnostico individual que genero mayor número de días perdidos fue el trastorno mixto de ansiedad y depresión 4% (301). Los trabajadores con cinco o más incapacidades durante el año fueron 26 (3,51%) que generaron el 33,3% (2.506) de los días perdidos. Los accidentes de trabajo no son una causa importante de ausentismo. RECOMENDACIONES: Implementar un sistema de recolección de información del ausentismo que se alimente de manera sistemática y continua para tener información suficiente, oportuna y confiable que permita analizarla y generar planes de acción. revisar las actividades que la empresa ha implementado para identificar, evaluar, gestionar los factores de riesgo psicolaborales; optimizar la detección temprana y prevención de desórdenes musculo esqueléticos. Por último realizar monitoreo evaluación y seguimiento a los trabajadores que presentan más de cinco incapacidades durante el año, con un grupo de salud interdisciplinario que permita implementar acciones de promoción y prevención de salud.