Factors associated to avascular necrosis of the femoral head and non-union in patients younger than 65 years old with displaced femoral neck fractures treated with reduction and internal fixation.

Pocos estudios han evaluado el tratamiento de las fracturas desplazadas de cuello femoral en pacientes menores de 65 años de edad, y no han sido claramente definidos los factores de riesgo para necrosis avascular o no-unión dentro de este rango de edad. Para determinar los factores asociados a la necrosis avascular de la cabeza femoral (AVN) y no-unión en pacientes menores de 65 años de edad con fracturas desplazadas del cuello femoral tratados con reducción y fijación interna, se realizó un estudio retrospectivo de 29 fracturas desplazadas del cuello femoral en 29 pacientes consecutivos tratados en una sola institución. La influencia de la edad, la energía del trauma, tipo de reducción, y el tiempo entre la fractura y el tratamiento en desarrollo de la AVN y no-unión fueron evaluados. Los pacientes que desarrollaron NAV fueron significativamente mayores y sufrieron un trauma de más baja energía que en los casos sin AVN. Ninguna variable fue asociada con la no-unión. La regresión logística determinó que sólo la edad se asoció de forma independiente a NAV. La edad es un buen predictor para el desarrollo de NAV, con un C-estadístico de 0.861, y un mejor corte-determinado en 53,5 años. Conclusión: Los pacientes de entre 53,5 y 65 años presentan un riesgo más alto de NAV. La artroplastia primaria se debe considerar en este subgrupo.

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.