[Quality of life in multiple sclerosis and other chronic autoimmune and non-autoimmune diseases]. / Calidad de vida en esclerosis multiple y otras enfermedades cronicas autoinmunes y no autoinmunes.

INTRODUCTION: Diseases that involve the nervous system and the musculoskeletal system are particularly likely to produce different limitations and deficits, and to affect the individual conception of quality of life. AIM: To determine the impact on quality of life generated by chronic autoimmune diseases like multiple sclerosis (MS), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), Sjogren's syndrome (SS), ankylosing spondylitis (AS) and chronic musculotendinous diseases like osteoarthritis (OA) and fibromyalgia (FM), using the Short Form 36-item (SF-36) health questionnaire. PATIENTS AND METHODS: A descriptive cross-sectional study was conducted between January 2004 and June 2006 and included 509 individuals, of whom 56 had MS, 36 SS, 24 AS, 200 RA, 65 SLE, 54 OA and 74 FM. Guided interviews were conducted to evaluate each sphere of the SF-36 health questionnaire. The statistical analysis was performed using the general lineal model, with means differences according to each diagnosis. RESULTS: Compared to patients with RA, those with MS showed significant differences in the physical functioning and social functioning dimensions. The lowest score was recorded in those with FM, except in physical functioning, where MS had the lowest mean. No differences were found in the mean scores on general conception of the state of health in each condition analysed. CONCLUSIONS: Different neurological functions deteriorate progressively in MS, which has repercussions on the musculoskeletal system; this leads to a poorer quality of life, mainly in the physical and social functions. The disability generated is not only defined by deficit but also by the degrees of functional limitation within the context of personal health. Quality of life thus becomes a global biopsychosocial phenomenon.

Calidad de vida en esclerosis múltiple y otras enfermedades crónicas autoinmunes y no autoinmunes / Quality of life in multiple sclerosis and other chronic autoimmune and non-autoimmune diseases

Resumen. Introducción. Las enfermedades que afectan al sistema nervioso y al sistema musculoesquelético tienen particular potencial de producir diferentes limitaciones, déficit y afectar la concepción individual de la calidad de vida. Objetivo. Determinar el impacto generado en la calidad de vida por enfermedades crónicas autoinmunes, tipo esclerosis múltiple (EM), artritis reumatoide (AR), lupus eritematoso sistémico (LES), síndrome de Sjögren (SS), espondilitis anquilosante (EA) y enfermedades crónicas musculotendinosas, tipo osteoartritis (OA) y fibromialgia (FM), por medio del cuestionario de salud Short Form item 36 (SF-36). Pacientes y métodos. Estudio descriptivo y transversal en el que se incluyeron, entre enero de 2004 y junio de 2006, 509 individuos, de los cuales 56 presentaban EM, 36 SS, 24 EA, 200 AR, 65 LES, 54 OA y 74 FM. Se practicó una entrevista dirigida en la que se evaluó cada esfera del cuestionario de salud SF-36. El análisis estadístico se realizó por medio del modelo lineal general, con diferencia de medias según cada diagnóstico. Resultados. En los pacientes con EM, comparados con aquéllos con AR, se observaron diferencias significativas en las dimensiones de función física y función social. En aquéllos con FM se registró la menor puntuación, excepto en la función física, donde la EM tuvo la media menor. La puntuación media sobre concepción general del estado de salud en cada entidad analizada no mostró diferencias. Conclusiones. La EM deteriora de manera progresiva y diversa diferentes funciones neurológicas, que repercuten en el sistema musculoesquelético; esto determina una disminución en la calidad de vida, principalmente en las funciones física y social. La discapacidad generada no se define únicamente por déficit, sino también por los grados de limitación funcional en el contexto personal de salud. Esto convierte la calidad de vida en un fenómeno global biopsicosocial (AU)

Summary. Introduction. Diseases that involve the nervous system and the musculoskeletal system are particularly likely to produce different limitations and deficits, and to affect the individual conception of quality of life. Aim. To determine the impact on quality of life generated by chronic autoimmune diseases like multiple sclerosis (MS), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), Sjogren’s syndrome (SS), ankylosing spondylitis (AS) and chronic musculotendinous diseases like osteoarthritis (OA) and fibromyalgia (FM), using the Short Form 36-item (SF-36) health questionnaire. Patients and methods. A descriptive cross-sectional study was conducted between January 2004 and June 2006 and included 509 individuals, of whom 56 had MS, 36 SS, 24 AS, 200 RA, 65 SLE, 54 OA and 74 FM. Guided interviews were conducted to evaluate each sphere of the SF-36 health questionnaire. The statistical analysis was performed using the general lineal model, with means differences according to each diagnosis. Results. Compared to patients with RA, those with MS showed significant differences in the physical functioning and social functioning dimensions. The lowest score was recorded in those with FM, except in physical functioning, where MS had the lowest mean. No differences were found in the mean scores on general conception of the state of health in each condition analysed. Conclusions. Different neurological functions deteriorate progressively in MS, which has repercussions on the musculoskeletal system; this leads to a poorer quality of life, mainly in the physical and social functions. The disability generated is not only defined by deficit but also by the degrees of functional limitation within the context of personal health. Quality of life thus becomes a global biopsychosocial phenomenon. (AU)

Enfermedad de superficie ocular por síndrome de Stevens-Johnson tratada con ciclosporina oral / Ocular surface disease due to Stevens-Johnson syndrome treated with oral cyclosporin

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TNF microsatellites polymorphism is associated with rheumatoid arthritis. Confirming evidence in northwestern Colombians.

OBJECTIVE: To examine the contribution of tumor necrosis factor alpha (TNF) microsatellite (a to e) polymorphism to the genetic risk of developing rheumatoid arthritis (RA) in a northwestern Colombian population. METHODS: This was an association study in which 108 RA patients and 222 matched individuals were enrolled. HLA-DRB1 and DQB1 polymorphisms were evaluated to examine for linkage disequilibrium between these loci and TNF micro- satellites. Genotyping was performed using denaturing polyacrylamide gels and polymerase chain reaction-sequence techniques. RESULTS: By unconditional logistic regression analysis, the TNFa6 allele (OR=2.37, 95%CI 1.07-5.24) and the TNFb4 allele (OR=3.01, 95%CI 1.07-9.00) were observed to be associated with disease. These associations were independent of HLA-DR and HLA-DQ since linkage disequilibrium between HLA class II and TNF microsatellites was not observed. In addition, patients with the TNFa8 allele had a five times greater risk of developing extra-articular manifestations as compared to patients without this allele (OR=5.07, 95%CI 1.14-22.52), regardless of age and the duration of disease. Haplotype analysis disclosed a protective effect for TNFa7/b7/c1/d4/e3/-308G/-238G. CONCLUSION: These results confirm that the TNF locus exerts a primary influence on both susceptibility to and the severity of RA.

PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases.

A functional single nucleotide polymorphism (SNP) C1858T in the protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene encoding an intracellular phosphatase with negative regulatory effects on T-cell activation is associated with some autoimmune diseases in Caucasians. Taking into account firstly, that SNP frequencies may vary across populations and, secondly, that replication studies are important to confirm previous associations, we examined the influence of PTPN22 polymorphism in 621 Colombian patients with four autoimmune diseases. Accordingly, 298 patients with rheumatoid arthritis (RA), 143 with systemic lupus erythematosus (SLE), 70 with primary Sjogren's syndrome (pSS) and 110 with Type 1 diabetes (T1D) were studied. The control group consisted of 308 matched healthy individuals. Genotyping of PTPN22 was performed by the real-time polymerase chain reaction technology, using the Taq Man 5'-allele discrimination assay. The 1858 T allele was found to be a risk factor for pSS (odds ratio (OR)=2.42), SLE (OR=2.56), and T1D (OR=1.83). A lower but nonsignificant trend was observed for RA (OR=1.26). These results confirm the influence of PTPN22 in autoimmunity and indicate that autoimmune phenotypes could represent pleiotropic outcomes of nonspecific disease genes that underlie similar immunogenetic mechanisms.