RESUMEN
We performed a genome-wide association study in 1,194 controls and 150 patients with anti-N-methyl-D-aspartate receptor (anti-NMDAR, n = 96) or anti-leucine-rich glioma-inactivated1 (anti-LGI1, n = 54) autoimmune encephalitis. Anti-LGI1 encephalitis was highly associated with 27 single-nucleotide polymorphisms (SNPs) in the HLA-II region (leading SNP rs2858870 p = 1.22 × 10-17 , OR = 13.66 [7.50-24.87]). Potential associations, below genome-wide significance, were found with rs72961463 close to the doublecortin-like kinase 2 gene (DCLK2) and rs62110161 in a cluster of zinc-finger genes. HLA allele imputation identified association of anti-LGI1 encephalitis with HLA-II haplotypes encompassing DRB1*07:01, DQA1*02:01 and DQB1*02:02 (p < 2.2 × 10-16 ) and anti-NMDAR encephalitis with HLA-I allele B*07:02 (p = 0.039). No shared genetic risk factors between encephalitides were identified. Ann Neurol 2018;83:863-869.
Asunto(s)
Autoanticuerpos/metabolismo , Encefalitis/genética , Predisposición Genética a la Enfermedad/genética , Enfermedad de Hashimoto/genética , Polimorfismo de Nucleótido Simple/genética , Proteínas Serina-Treonina Quinasas/genética , Proteínas/genética , Adolescente , Adulto , Anciano , Quinasas Similares a Doblecortina , Encefalitis/inmunología , Encefalitis/metabolismo , Femenino , Estudio de Asociación del Genoma Completo , Enfermedad de Hashimoto/inmunología , Enfermedad de Hashimoto/metabolismo , Humanos , Péptidos y Proteínas de Señalización Intracelular , Masculino , Persona de Mediana Edad , Proteínas/inmunología , Receptores de N-Metil-D-Aspartato/inmunología , Adulto JovenRESUMEN
Triterpenes of the outer bark of birch are known to improve wound healing. An oleogel with these triterpenes as active principle is approved by the European Medicines Agency. As foams can be applied without touching the skin, they might be an advantageous application form. A comparable wound-healing effect can be expected when the permeation flux of the triterpenes from different types of formulations, namely oleogels, water-in-oil emulsions and water-in-oil foams, is similar. The tested formulations were based on three lipids (medium-chain trigylcerides, sunflower oil and paraffin) which differ in their polarity and solvent power for the triterpenes. Infinite dose permeation experiments were performed using porcine skin which was injured by either tape stripping or skin grafting. The results showed that steady-state permeation flux and lag time depend clearly on the depth of the skin lesion. Moreover, it was substantially affected by the lipid used as basis for the different formulations. In contrast, the different formulation types showed a comparable permeation behaviour leading to the conclusion that all formulation types can be used alike for the treatment of wounds, and the results that have already been obtained with oleogels can be directly translated to the foam with its superior use properties.
