Evaluación radiológica de los elementos de osteosíntesis en el miembro superior / Radiological evaluation of bone synthesis in the upper limb

El tratamiento de las fracturas óseas del miembro superior puede realizarse por métodos cerrados o abiertos. Los cerrados se basan en el principio de inmovilización y/o tracción con materiales externos, mientras que los abiertos utilizan elementos quirúrgicos de fijación interna o externa. Los rayos X(Rx) constituyen la primera y mejor metodología para la evaluación posquirúrgica de estos elementos. El conocimiento básico de los materiales utilizados es necesario para conseguir una buena evaluación e informe médico.

The treatment of bone fractures of the upper limb can be performed by closed or open methods. Closed methods are based on the principle of immobilisation and / or traction with external materials. Instead, open surgical methods use elements of internal or external fixation. The x-ray is the first method of choice in the post-operative evaluation of these elements. A basic knowledge of the materials used is necessary to make a good assessment and medical report.

Evidence of a genomic insertion in intron 2 of SOD1 causing allelic drop-out during routine diagnostic testing for canine degenerative myelopathy.

Degenerative myelopathy is a severe and progressive neurodegenerative disease and, in the majority of breeds, is associated with the c.118G>A substitution in exon 2 of the canine superoxide dismutase 1 (SOD1) gene. Our laboratories have been engaged in determining the cause of many discordant findings between the parental and the offspring genotypes found by different laboratories. In both cases, the discordant findings refer to actual heterozygous dogs that had been typed as homozygous for the variant allele. To that aim, the genomic context of the causative variant was investigated in two Hovawart dogs. An insertion of 54 nucleotides composed of a poly-T stretch and 15 nucleotides containing the duplication of the exon 2-intron 2 junction was found. The insertion was responsible for the partial mismatch of the reverse primer used for a direct sequencing assay. The mismatch hampered the amplification of the corresponding allele and caused an evident drop-out effect. The insertion is in complete linkage disequilibrium with the c.118G allele. The allele containing the insertion was highly prevalent in Hovawart dogs, accounting for the 26.6% of allele frequency. The insertion was also found in other unrelated breeds such as Rough Collies and Standard Poodles. In conclusion, the study illustrates the importance of correctly designing the primers to avoid inaccurate genotyping of the degenerative myelopathy causative variant in exon 2 of the SOD1 gene.