Prevalence of thoracic vertebral malformations in french bulldogs, pugs and english bulldogs with and without associated neurological deficits

Congenital vertebral malformations are common incidental findings in small breed dogs. This retrospective observational study evaluated the type and prevalence of thoracic vertebral malformations in 171 neurologically normal and 10 neurologically abnormal screw-tailed brachycephalic dogs. Neurologically normal dogs underwent CT for reasons unrelated to spinal disease, while affected dogs underwent MRI. Imaging studies were reviewed and vertebral malformations including hemivertebrae, block vertebrae, transitional vertebrae, and spina bifida were documented. The group of clinically normal dogs consisted of 62 French bulldogs, 68 Pugs and 41 English bulldogs. The group of affected dogs consisted of one French bulldog and nine Pugs. Overall, 80.7% of neurologically normal animals were affected by at least one vertebral malformation. There was a significant influence of breed, with thoracic vertebral malformations occurring more often in neurologically normal French bulldogs (P < 0.0001) and English bulldogs (P = 0.002). Compared to other breeds, hemivertebrae occurred more often in neurologically normal French bulldogs (93.5%; P < 0.0001 vs. Pugs; P = 0.004 vs. English bulldogs) and less often in neurologically normal Pugs (17.6%; P = 0.004 vs. English bulldogs). Neurologically normal Pugs were more often diagnosed with transitional vertebrae and spina bifida compared to other breeds (P < 0.0001 for both malformations). Of Pugs included in the study, 4.7% were diagnosed with clinically relevant thoracic vertebral malformations. When compared to the general veterinary hospital population, this was significantly more than the other two breeds (P = 0.006). This study indicates that thoracic vertebral malformations occur commonly in neurologically normal screw-tailed brachycephalic dogs. While hemivertebrae are often interpreted as incidental diagnostic findings, they appear to be of greater clinical importance in Pugs compared to other screw-tailed brachycephalic breeds

Precision medicine in cats:novel niemann-pick type C1 diagnosed by whole-genome sequencing

State-of-the-art health care includes genome sequencing of the patient to identify genetic variants that contribute to either the cause of their malady or variants that can be targeted to improve treatment. The goal was to introduce state-of-the-art health care to cats using genomics and a precision medicine approach. To test the feasibility of a precision medicine approach in domestic cats, a single cat that presented to the University of Missouri, Veterinary Health Center with an undiagnosed neurologic disease was whole-genome sequenced. The DNA variants from the cat were compared to the DNA variant database produced by the 99 Lives Cat Genome Sequencing Consortium. Approximately 25× genomic coverage was produced for the cat. A predicted p.H441P missense mutation was identified in NPC1, the gene causing Niemann-Pick type C1 on cat chromosome D3.47456793 caused by an adenine-to-cytosine transversion, c.1322A>C. The cat was homozygous for the variant. The variant was not identified in any other 73 domestic and 9 wild felids in the sequence database or 190 additionally genotyped cats of various breeds. The successful effort suggested precision medicine is feasible for cats and other undiagnosed cats may benefit from a genomic analysis approach. The 99 Lives DNA variant database was sufficient but would benefit from additional cat sequences. Other cats with the mutation may be identified and could be introduced as a new biomedical model for NPC1. A genetic test could eliminate the disease variant from the population