Spondyloarthropathies in autoimmune diseases and vice versa

Polyautoimmunity is one of the major clinical characteristics of autoimmune diseases (ADs). The aim of this study was to investigate the prevalence of ADs in spondyloarthropathies (SpAs) and vice versa. This was a two-phase cross-sectional study. First, we examined the presence of ADs in a cohort of patients with SpAs (). Second, we searched for the presence of SpAs in a well-defined group of patients with ADs () including rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and Sjögren’s syndrome (SS). Among patients with SpAs, ankylosing spondylitis was observed in the majority of them (55.6%). There were two patients presenting with SS in the SpA group (1.4%) and 5 patients with autoimmune thyroiditis (3.5%). The global prevalence of ADs in SpAs was 4.86%. In the ADs group, there were 5 patients with SpAs (0.46%). Our results suggest a lack of association between SpAs and ADs. Accordingly, SpAs might correspond more to autoinflammatory diseases rather than to ADs.

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

Teleconsultation in sexual and reproductive health for young adults through mobile devices: Experience in Colombia

Background: Sexual risk behaviors associated with poor information on sexuality have contributed to major public health problems in the area of sexual and reproductive health in teenagers and young adults in Colombia. Objective: To measure the perception of changes in sexual and reproductive risk behavior after the use of a teleconsultation service via mobile devices in a sample of young adults. Methods: A before and after observational study was designed, where a mobile application to inquire about sexual and reproductive health was developed. The perception of changes in sexual and reproductive health risk behaviors in a sample of young adults after the use of the application was measured using the validated survey “Family Health International (FHI) – Behavioral Surveillance Survey (BSS) – Survey for Adults between 15 to 40 Years”. Non-probabilistic convenience recruitment was undertaken through the study´s web page. Participants answered the survey online before and after the use of the mobile application for a six month period (intervention). For the inferential analysis, data was divided into three groups (dichotomous data, discrete quantitative data, and ordinal data), to compare the results of the questions between the first and the second survey. For all tests, a confidence interval of 95% was established. For dichotomous data, the Chi-squared test was used. For quantitative data, we used the Student’s t-test, and for ordinal data, the Mann-Whitney-Wilcoxon test. Results: A total of 257 subjects were registered in the study and met the selection criteria. The pre-intervention survey was answered by 232 subjects, and 127 completely answered the post-intervention survey, of which 54.3% did not use the application, leaving an effective population of 58 subjects for analysis. 53% (n=31) were female, and 47% (n=27) were male. The mean age was 21 years, ranging between 18 and 40 years. The differences between the answers on the first and the second survey were not statistically significant. The main risk behaviors identified in the population were homosexual relations, non-use of condoms, sexual relations with non-regular and commercial partners, the use of psychoactive substances, and ignorance about the symptoms of sexually transmitted diseases and HIV transmission. Conclusions: Although there were no differences between the pre- and post-intervention results, the study revealed different risk behaviors among the participating subjects. These findings highlight the importance of promoting educational strategies on this matter and the importance of providing patients with easily accessible tools with reliable health information.

Functional studies of the deubiquitinating enzymes USP19, USP4 and UCH-L1

El marcaje de proteínas con ubiquitina, conocido como ubiquitinación, cumple diferentes funciones que incluyen la regulación de varios procesos celulares, tales como: la degradación de proteínas por medio del proteosoma, la reparación del ADN, la señalización mediada por receptores de membrana, y la endocitosis, entre otras (1). Las moléculas de ubiquitina pueden ser removidas de sus sustratos gracias a la acción de un gran grupo de proteasas, llamadas enzimas deubiquitinizantes (DUBs) (2). Las DUBs son esenciales para la manutención de la homeostasis de la ubiquitina y para la regulación del estado de ubiquitinación de diferentes sustratos. El gran número y la diversidad de DUBs descritas refleja tanto su especificidad como su utilización para regular un amplio espectro de sustratos y vías celulares. Aunque muchas DUBs han sido estudiadas a profundidad, actualmente se desconocen los sustratos y las funciones biológicas de la mayoría de ellas. En este trabajo se investigaron las funciones de las DUBs: USP19, USP4 y UCH-L1. Utilizando varias técnicas de biología molecular y celular se encontró que: i) USP19 es regulada por las ubiquitin ligasas SIAH1 y SIAH2 ii) USP19 es importante para regular HIF-1α, un factor de transcripción clave en la respuesta celular a hipoxia, iii) USP4 interactúa con el proteosoma, iv) La quimera mCherry-UCH-L1 reproduce parcialmente los fenotipos que nuestro grupo ha descrito previamente al usar otros constructos de la misma enzima, y v) UCH-L1 promueve la internalización de la bacteria Yersinia pseudotuberculosis.

Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility

Systemic lupus erythematosus (SLE), a complex polygenic autoimmune disease, is associated with increased complement activation. Variants of genes encoding complement regulator factor H (CFH) and five CFH-related proteins (CFHR1-CFHR5) within the chromosome 1q32 locus linked to SLE, have been associated with multiple human diseases and may contribute to dysregulated complement activation predisposing to SLE. We assessed 60 SNPs covering the CFH-CFHRs region for association with SLE in 15,864 case-control subjects derived from four ethnic groups. Significant allelic associations with SLE were detected in European Americans (EA) and African Americans (AA), which could be attributed to an intronic CFH SNP (rs6677604, in intron 11, Pmeta = 6.6×10-8, OR = 1.18) and an intergenic SNP between CFHR1 and CFHR4 (rs16840639, Pmeta = 2.9×10-7, OR = 1.17) rather than to previously identified disease-associated CFH exonic SNPs, including I62V, Y402H, A474A, and D936E. In addition, allelic association of rs6677604 with SLE was subsequently confirmed in Asians (AS). Haplotype analysis revealed that the underlying causal variant, tagged by rs6677604 and rs16840639, was localized to a ~146 kb block extending from intron 9 of CFH to downstream of CFHR1. Within this block, the deletion of CFHR3 and CFHR1 (CFHR3-1Δ), a likely causal variant measured using multiplex ligation-dependent probe amplification, was tagged by rs6677604 in EA and AS and rs16840639 in AA, respectively. Deduced from genotypic associations of tag SNPs in EA, AA, and AS, homozygous deletion of CFHR3-1Δ (Pmeta = 3.2×10-7, OR = 1.47) conferred a higher risk of SLE than heterozygous deletion (Pmeta = 3.5×10-4, OR = 1.14). These results suggested that the CFHR3-1Δ deletion within the SLE-associated block, but not the previously described exonic SNPs of CFH, might contribute to the development of SLE in EA, AA, and AS, providing new insights into the role of complement regulators in the pathogenesis of SLE.

Uveítis pediática no infecciosa, una experiencia de una cohorte colombiana

Resumen: •Antecedentes: La uveítis pediátrica no infecciosa tiene el potencial de desencadenar severas complicaciones visuales y su manejo farmacológico convencional está asociado a importantes efectos secundarios. 1 Infliximab (INF) y Adalimumab (ADA), son dos medicamentos biológicos disponibles para el manejo de la uveítis pediátrica refractaria. Se unen específicamente al TNFα y previenen la unión del mismo con los receptores celulares; interacción directamente implicada en el proceso inflamatorio y el subsecuente daño tisular. 2,3 •Métodos: Se realizó estudio de tipo cohorte retrospectiva mediante revisión de historias clínicas de 35 pacientes pediátricos diagnosticados con uveítis durante los años 2009-2015. Se comparó control de la inflamación ocular, tiempo de respuesta y eventos adversos en pacientes tratados con ADA o INF con dosis bajas de Metotrexate vs. Metotrexate (MTX) como única terapia. •Resultados: El 45.7% de la población estudiada correspondía al sexo femenino, cuya edad promedio de inicio de síntomas y de diagnósticos fue de 9 años. El 80% de los casos fueron uveítis idiopáticas, seguido por Vogt-Koyanagi-Harada (8,5%) y AIJ (5,7%). El 91,4% presentó compromiso ocular bilateral y se documentaron 2 casos de ambliopía. El 12,9% de los pacientes que recibieron MTX como tratamiento de primera línea requirieron escalonamiento terapéutico por presentar eventos adversos (Elevación de enzimas hepáticas e intolerancia gastrointestinal (GI)). El tiempo promedio para alcanzar control de la inflamación con MTX fue 9 semanas, y para Adalimumab fue de 8,75 semanas (P: 0,90). Se comparó la capacidad de controlar la inflamación del MTX vs Anti-TNF, y no se observaron diferencias significativas (P: 0.88).