Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies.

A frameshift deletion variant in the Wnt pathway gene dishevelled 2 (DVL2) is associated with a truncated, kinked tail ("screw tail") in English Bulldogs, French Bulldogs and Boston Terriers. These breeds are also characterized by distinctive morphological traits, including a wide head, flat face and short-limbed dwarfism, which are characteristic of Robinow syndrome in humans, caused by defects in genes such as DVL1 and DVL3. Based on these phenotypic and genetic similarities, it has previously been hypothesized that the canine DVL2 variant results in a syndromic phenotype called the Robinow-like syndrome. In our study, we investigated the distribution of the DVL2 variant in 1954 dogs from 15 breeds, identifying breeds with allele variation and enabling the dissection of the genotype-phenotype correlation for the first time. With CT examinations in American Staffordshire Terriers, we confirmed that the DVL2 allele is associated with caudal vertebral malformations and a brachycephalic phenotype. We also hypothesize that the variant may be linked to additional health conditions, including brachycephalic obstructive airway syndrome and congenital heart defects. Altogether, our study strengthens the role of DVL2 as one of the contributors to the "bulldog type" morphology and features on the spectrum of human Robinow syndrome.

The intra- and intertester repeatability of radiographic elbow incongruity grading is high in chondrodystrophic dog breeds.

Elbow incongruity is a form of elbow dysplasia that causes osteoarthritis, pain, and lameness, and it is common in chondrodystrophic dog breeds. The objective of this retrospective secondary analysis study was to evaluate the intra- and interobserver repeatability of a novel radiographic incongruity grading system for assessing elbow incongruity in three chondrodystrophic dog breeds-the dachshund, Skye Terrier, and Glen of Imaal Terrier. We conducted an observer agreement study that included 220 mediolateral antebrachial radiographs from 110 dogs with the elbow in 90° flexion. The radiographs were independently assessed by three observers at three time points, using a four-stepped grading scale. The proportion of agreement and Kappa coefficient were calculated. Both the intra- and interobserver proportions of agreement were substantial when three grades were required to be identical (.705-.777 and .609, respectively), and almost perfect for two identical grades (.991-1.000 and .991, respectively). Some differences in repeatability between breeds were noted; specifically, the intraobserver repeatability was higher in the dachshund, and the interobserver repeatability was lower in the Glen of Imaal Terrier. Our study showed that the radiographic imaging protocol and incongruity grading system have high repeatability when assessing elbow incongruity in chondrodystrophic dog breeds.

Randomized, Blinded, Controlled Clinical Trial of Polylactide-Collagen Scaffold in Treatment of Shoulder Osteochondritis Dissecans in Dogs.

OBJECTIVE: The aim of our study was to investigate a degradable polylactide-collagen scaffold (COPLA) in the treatment of shoulder osteochondritis dissecans (OCD) in dogs. STUDY DESIGN: The study was a controlled, randomized, blinded clinical trial with a parallel group design with a 1.5-year follow-up. Twenty dogs with uni- or bilateral shoulder OCD (29 shoulders) were randomized to receive a COPLA or arthroscopic debridement only (Control). The outcome of treatment was assessed with gait and stance analysis, passive range of motion measurement, pain and lameness evaluation, Helsinki Chronic Pain Index, and computed tomography (CT). RESULTS: Eighteen dogs (25 shoulders) completed the study. The clinical outcome variables improved significantly from baseline in COPLA and Control groups after treatment but no significant differences emerged between groups. Significantly fewer COPLA than Control shoulders had osteoarthritis (OA) in CT at 6 months (p = 0.019) but the difference was not significant at 1.5 years. At 1.5 years, all dogs were sound and pain-free in joint palpation, but OA was diagnosed in 13/18 dogs (18/25 shoulders) with CT. CONCLUSION: The results suggest that COPLA scaffold slowed down the development of OA at 6 months but it did not improve the clinical recovery or prevent OA in dogs with shoulder OCD in long-term follow-up at 1.5 years compared with arthroscopic debridement only. Regardless of the treatment method, clinical recovery was good, but OA developed in the majority of dogs.

Evaluation of intervertebral disc degeneration in young adult asymptomatic Dachshunds with magnetic resonance imaging and radiography.

BACKGROUND: Dachshunds have a high prevalence of intervertebral disc disease (IVDD) to which they are predisposed due to early intervertebral disc (IVD) degeneration and calcification. Moreover, the recently found 12-FGF4 retrogene (RG) is associated with calcified discs visible on radiographs (CDVR) and IVDD. Earlier studies suggest that all IVDs of one-year-old Dachshunds show signs of degeneration. This prospective, analytical, blinded study aimed to investigate the extent and distribution of IVD degeneration in young adult (24-31 months) asymptomatic Dachshunds (n = 21) hypothesizing that not all IVDs of two-year-old Dachshunds are degenerated. Another aim was to explore the correlations between IVD degeneration evaluated with magnetic resonance imaging (MRI), the number of CDVR, and the dog's 12-FGF4RG status. The study protocol included grading the CDVR on spinal radiographs, grading the IVD degeneration on T2-weighted sagittal and transverse high-field MR images of all IVDs (n = 546), and 12-FGF4RG variant genotyping. RESULTS: Of all IVDs evaluated, 2% (n = 11) were normal based on MRI grading. Despite the study population having moderately degenerated IVDs (median MRI grade 3), there was also variation in the degree of IVD degeneration between individuals and in the distribution of IVD degeneration between different vertebral regions. The number of CDVR correlated significantly with the magnitude of IVD degeneration based on MRI evaluation and with the 12-FGF4RG genotype. The odds for being 12-FGF4RG homozygous were higher for Dachshunds with CDVR. However, the 12-FGF4RG variant did not alone explain the phenotypic variation in IVD degeneration. CONCLUSIONS: The number of CDVR is a valid indicator of overall IVD degeneration, as it correlates with MRI-based IVD grading. Also, as the extent and distribution of IVD degeneration varies between individual Dachshunds, selective breeding against IVDD using radiographic screening and 12-FGF4RG variant genotyping is possible.