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Machado–Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder in families of Portuguese–Azorean ancestry. The gene responsible for MJD has been assigned to a 29-cM interval on chromosome 14q. A large Brazilian family with MJD was genotyped with six new microsatellite markers spanning 19 cM on chromosome 14q. Linkage analysis and haplotype reconstruction reduced theMJDcandidate region to a 3-cM interval between markers D14S280 and D14S81, permitting positional cloning. This interval also contains thespinal cerebellar ataxia 3(SCA3) gene, responsible for a genetic subtype of the type I autosomal dominant cerebellar ataxias, clinically related to MJD. This result supports the hypothesis that abnormalities in the same gene may be responsible for both disorders. The minor clinical differences between the two diseases may result from allelic heterogeneity.

Abstract Background Chlamydia trachomatis (Ct) is the most common infectious cause of blindness and bacterial sexually transmitted infection worldwide. Ct strain-specific differences in clinical trachoma suggest that genetic polymorphisms in Ct may contribute to the observed variability in severity of clinical disease. Methods Using Ct whole genome sequences obtained directly from conjunctival swabs, we studied Ct genomic diversity and associations between Ct genetic polymorphisms with ocular localization and disease severity in a treatment-naïve trachoma-endemic population in Guinea-Bissau, West Africa. Results All Ct sequences fall within the T2 ocular clade phylogenetically. This is consistent with the presence of the characteristic deletion in trpA resulting in a truncated non-functional protein and the ocular tyrosine repeat regions present in tarP associated with ocular tissue localization. We have identified 21 Ct non-synonymous single nucleotide polymorphisms (SNPs) associated with ocular localization, including SNPs within pmpD (odds ratio, OR = 4.07, p* = 0.001) and tarP (OR = 0.34, p* = 0.009). Eight synonymous SNPs associated with disease severity were found in yjfH (rlmB) (OR = 0.13, p* = 0.037), CTA0273 (OR = 0.12, p* = 0.027), trmD (OR = 0.12, p* = 0.032), CTA0744 (OR = 0.12, p* = 0.041), glgA (OR = 0.10, p* = 0.026), alaS (OR = 0.10, p* = 0.032), pmpE (OR = 0.08, p* = 0.001) and the intergenic region CTA0744–CTA0745 (OR = 0.13, p* = 0.043). Conclusions This study demonstrates the extent of genomic diversity within a naturally circulating population of ocular Ct and is the first to describe novel genomic associations with disease severity. These findings direct investigation of host-pathogen interactions that may be important in ocular Ct pathogenesis and disease transmission.

Mediante el empleo de técnicas de PCR-RFLP se caracterizaron tres cepas de tripanosomas aisladas de bovinos de diferentes regiones de Colombia, a partir de ampliÀcaciones de la región 18S de la subunidad ribosomal del rDNA del parásito. Para el PCR inicial se emplearon los primers específicos nF2 y nR3, y sobre el producto obtenido de 756 pb se realizó un PCR semianidado con los primers NF2 y NR2 de la misma región. Se obtuvo un producto 650 pb sobre el cual se realizó el análisis de restricción con las enzimas MspI y Eco57I , lo que permitió clasifícar las tres cepas analizadas como Trypanosoma vivax, Trypanosoma evansi y Trypanosoma theileri . El estudio morfométrico permitió corroborar diferencias morfológicas entre los parásitos clasificados. Se discute el uso de la técnica de PCR-RFLP como herramienta diagnóstica de la tripanosomosis bovina en Colombia.

Photonic metamaterials made of graded photonic crystals operating near the bandgap frequency region are proposed for field manipulation around l=1.5μm. Proof-of-concept structures have been studied using Hamiltonian optics and FDTD simulation, fabricated, and characterized using farfield optical measurements. Experimental results are in good agreement with predictions, showing the interest of graded photonic crystals as an (ultra-low loss) alternative solution to the use of metamaterials combining dielectric and metallic materials with sub-wavelength unit cells.

Se estableció una colonia del mosquito Aedes taeniorhynchus, eficientevector del virus de la encefalitis equina venezolana, tipo epidemo-epizoótico, a partir deformas adultas, recolectados en regiones cercanas a Barranquilla, Atlántico (Colombia). Se estudiaron algunos aspectos de la biología de este insecto (ciclo de vida y longevidad), elaboración de tablas de vida e igualmente se maximizaron algunos parámetrosfísicos, ambientales y nutricionales que garantizarán el mantenimiento y la continuidad de la especie en condiciones de laboratorio. Esta colonia fue establecida con el objeto de proporcionar la materia prima biológica para los explantes de tejidos embrionarios que se han venido utilizando para establecer líneas celulares de crecimiento continuo.