5 research outputs found

    Diagnosis and management of lumbar Aspergillus spp. discospondylitis using intraoperative cytology and external stabilization in a dog with disseminated infection

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    Background: Discospondylitis is an infection of the intervertebral disc and adjacent vertebral endplates. The infectious agent is most commonly a bacterial organism and fungal causes are uncommon. Case Description: A 1,5-year-old female entire pug was referred with a 6-week history of right head tilt and progressive non-ambulatory paraparesis. On neurological examination, right facial paralysis and mid and caudal lumbar pain were also detected. Magnetic resonance imaging and computed tomography of the head and spine were performed three weeks apart. Findings were consistent with osteolysis of the petrous temporal bone and L2-L3 and L5-L6 vertebral subluxation caused by discospondylitis and osteomyelitis. Disseminated aspergillosis was diagnosed following biopsy and stabilization using an external skeletal spinal fixator. Voriconazol was administered as a medical treatment after surgery. The dog died three months later without failure of the construct. Conclusion: To the authors’ knowledge, this is the first report using an external fixator for fungal lumbar discospondylitis. The use of an ESSF should be considered when choosing the surgical technique

    SLC19A3 Loss-of-Function Variant in Yorkshire Terriers with Leigh-Like Subacute Necrotizing Encephalopathy

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    Sporadic occurrence of juvenile-onset necrotizing encephalopathy (SNE) has been previously reported in Yorkshire terriers. However, so far, no causative genetic variant has been found for this breed-specific form of suspected mitochondrial encephalomyopathy. Affected dogs showed gait abnormalities, central visual defects, and/or seizures. Histopathological analysis revealed the presence of major characteristics of human Leigh syndrome and SNE in Alaskan huskies. The aim of this study was to characterize the genetic etiology of SNE-affected purebred Yorkshire terriers. After SNP genotyping and subsequent homozygosity mapping, we identified a single loss-of-function variant by whole-genome sequencing in the canine SLC19A3 gene situated in a 1.7 Mb region of homozygosity on chromosome 25. All ten cases were homozygous carriers of a mutant allele, an indel variant in exon 2, that is predicted to lead to a frameshift and to truncate about 86% of the wild type coding sequence. This study reports a most likely pathogenic variant in SLC19A3 causing a form of SNE in Yorkshire terriers and enables selection against this fatal neurodegenerative recessive disorder. This is the second report of a pathogenic alteration of the SLC19A3 gene in dogs with SNE
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