International registry of congenital porto-systemic shunts: a multi-centre, retrospective and prospective registry of neonates, children and adults with congenital porto-systemic shunts.

BACKGROUND Congenital portosystemic shunts (CPSS) are rare vascular malformations associated with the risk of life-threatening systemic conditions, which remain underdiagnosed and often are identified after considerable diagnostic delay. CPSS are characterized by multiple signs and symptoms, often masquerading as other conditions, progressing over time if the shunt remains patent. Which patients will benefit from shunt closure remains to be clarified, as does the timing and method of closure. In addition, the etiology and pathophysiology of CPSS are both unknowns. This rare disorder needs the strength of numbers to answer these questions, which is the purpose of the international registry of CPSS (IRCPSS). METHOD A retrospective and prospective registry was designed using secuTrial® by the ISO certified Clinical Research Unit. Given that a significant number of cases entered in the registry are retrospective, participants have the opportunity to use a semi-structured minimal or complete data set to facilitate data entry. In addition, the design allows subjects to be entered into the IRCPSS according to clinically relevant events. Emphasis is on longitudinal follow-up of signs and symptoms, which is paramount to garner clinically relevant information to eventually orient patient management. The IRCPSS includes also three specific forms to capture essential radiological, surgical, and cardiopulmonary data as many times as relevant, which are completed by the specialists themselves. Finally, connecting the clinical data registry with a safe image repository, using state-of-the-art pseudonymization software, was another major focus of development. Data quality and stewardship is ensured by a steering committee. All centers participating in the IRCPSS have signed a memorandum of understanding and obtained their own ethical approval. CONCLUSION Through state-of-the-art management of data and imaging, we have developed a practical, user-friendly, international registry to study CPSS in neonates, children, and adults. Via this multicenter and international effort, we will be ready to answer meaningful and urgent questions regarding the management of patients with CPSS, a condition often ridden with significant diagnostic delay contributing to a severe clinical course

Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds

Genotype imputation using a reference panel that combines high-density array data and publicly available whole genome sequence consortium variant data is potentially a cost-effective method to increase the density of extant lower-density array datasets. In this study, three datasets (two Border Collie; one Italian Spinone) generated using a legacy array (Illumina CanineHD, 173 662 SNPs) were utilised to assess the feasibility and accuracy of this approach and to gather additional evidence for the efficacy of canine genotype imputation. The cosmopolitan reference panels used to impute genotypes comprised dogs of 158 breeds, mixed breed dogs, wolves and Chinese indigenous dogs, as well as breed-specific individuals genotyped using the Axiom Canine HD array. The two Border Collie reference panels comprised 808 individuals including 79 Border Collies and 426 326 or 426 332 SNPs; and the Italian Spinone reference panel comprised 807 individuals including 38 Italian Spinoni and 476 313 SNPs. A high accuracy for imputation was observed, with the lowest accuracy observed for one of the Border Collie datasets (mean R2 = 0.94) and the highest for the Italian Spinone dataset (mean R2 = 0.97). This study's findings demonstrate that imputation of a legacy array study set using a reference panel comprising both breed-specific array data and multi-breed variant data derived from whole genomes is effective and accurate. The process of canine genotype imputation, using the valuable growing resource of publicly available canine genome variant datasets alongside breed-specific data, is described in detail to facilitate and encourage use of this technique in canine genetics

Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits

The amyloidoses constitute a group of diseases occurring in humans and animals that are characterized by abnormal deposits of aggregated proteins in organs, affecting their structure and function. In the Abyssinian cat breed, a familial form of renal amyloidosis has been described. In this study, multi-omics analyses were applied and integrated to explore some aspects of the unknown pathogenetic processes in cats. Whole-genome sequences of two affected Abyssinians and 195 controls of other breeds (part of the 99 Lives initiative) were screened to prioritize potential disease-associated variants. Proteome and miRNAome from formalin-fixed paraffin-embedded kidney specimens of fully necropsied Abyssinian cats, three affected and three non-amyloidosis-affected were characterized. While the trigger of the disorder remains unclear, overall, (i) 35,960 genomic variants were detected; (ii) 215 and 56 proteins were identified as exclusive or overexpressed in the affected and control kidneys, respectively; (iii) 60 miRNAs were differentially expressed, 20 of which are newly described. With omics data integration, the general conclusions are: (i) the familial amyloid renal form in Abyssinians is not a simple monogenic trait; (ii) amyloid deposition is not triggered by mutated amyloidogenic proteins but is a mix of proteins codified by wild-type genes; (iii) the form is biochemically classifiable as AA amyloidosis

Chiari malformatie en syringomyelie: veel voorkomende aandoeningen bij de toybreeds

Kleine hondjes, zoals de Chihuahua en Dwergkees (Pommeriaantje), zijn tegenwoordig zeer populair. Wat veel – potentiële - eigenaren niet weten, is dat deze hondjes dikwijls chronische of aanvalsgewijze pijn hebben. Dit is vaak het gevolg van chiari malformatie en/of syringomyelie. We zien deze aandoeningen ook bij andere kleine rassen met een relatief breed maar kort hoofd. Neuroloog Paul Mandigers, ziet deze hondjes dagelijks in zijn praktijk

Dysphonia in a dog with cervical spinal cord injury and suspected progressive myelomalacia caused by a C4-C5 hydrated nucleus pulposus extrusion

A 10.5-year-old dog was presented with acute onset tetraparesis progressing to tetraplegia. The clinical sign of dysphonia was documented in the absence of signs of laryngeal dysfunction. MRI findings of the cervical spinal cord were consistent with a C4-C5 hydrated nucleus pulposus extrusion (HNPE) and overlying spinal cord injury (SCI). Seven days after presentation, a repeat MRI study was performed due to clinical deterioration with respiratory compromise and revealed changes compatible with progressive myelomalacia. The dog was euthanased due to the progression of severe clinical signs. Dysphonia due to acute cervical SCI has not been reported in dogs. Explanations for the clinical sign of dysphonia are discussed, relevant aspects of the literature on HNPE are reviewed and discussion points are mentioned with regard to SCI and myelomalacia

Bromide Dose in Dogs With Epilepsy Living Close to Coastal Areas and Living More Inland: A Retrospective Observational Study

Potassium bromide is a frequently used antiseizure medication with a half-life time of over 25 days. Oral intake of sodium chloride as well as renal function influence this half-life time and may have an influence on the needed dose to get proper serum levels. The hypothesis is that dogs living close to coastal areas require a greater potassium bromide dose than dogs living more inland. The main study objective was to determine the relationship between bromide dose, serum bromide concentration, treatment duration, type of food, concurrent therapies and the proximity of the dog's residency to a coastal area. A retrospective cross-sectional study was performed. A total of 658 bromide serum measurements were retrieved from the veterinary faculty's laboratory archive, Utrecht University, The Netherlands. Information on the bromide dose, renal function, treatment period, type of food, concurrent therapies and residence was obtained retrospectively from owners of all dogs using a postal survey. A dataset of 220 unique study units was created. The dogs were grouped based on their residence (proximity to the coast > or <50 km). Differences between the groups of dogs regarding bromide dose, serum bromide concentration, treatment duration, type of food and concurrent therapies were analyzed to evaluate the effect of residence on bromide dose and serum concentration. Results: Although not statistically significant there is a trend that dogs living in close proximity to the sea may require a higher dose of potassium bromide to maintain therapeutic concentrations compared to dogs living more inlands. Additional studies are needed to further explore this observation

Prognostic factors for continence after surgical correction of ectopic ureters of 51 dogs with long-term follow-up

BACKGROUND: An ectopic ureter is a congenital malformation characterized by caudal displacement of one or both ureteral orifices and is the most common cause of urinary incontinence in young dogs. Complete resolution of incontinence after surgery has been reported in 25-82% of dogs. The aim of this study was to identify preoperative prognostic factors for continence after surgical treatment of dogs with an ectopic ureter. Dogs were included if surgical correction of an ectopic ureter was performed and at least 1 year follow-up was available. RESULTS: Fifty-one dogs met the inclusion criteria. The ectopic ureters were either intramural (91%) or extramural (9%). The ectopic ureters were bilateral in 49% of cases. Overall median follow-up time after surgery was 6.5 years (range 1-13 years). Surgical correction alone resolved urinary incontinence in 47% of cases. Low grade pre-operative incontinence, male sex and pre-operative presence of ureteral or renal pyelum dilation were significantly associated with urinary continence after surgery. CONCLUSIONS: Dogs with severe preoperative incontinence were less likely to become completely continent after surgery, whereas male sex and preoperative dilation of the ureter or renal pyelum were positive prognostic indicators for continence. These results may assist in predicting outcome after surgical correction of ectopic ureters and suggest assessment of pre-operative urethral pressure profiling in future studies

Prevalence of Echocardiographic Evidence of Trace Mitral and Aortic Valve Regurgitation in 50 Clinically Healthy, Young Adult Labrador Retrievers without Heart Murmur

Background-Though physiologic regurgitation of the right-sided cardiac valves is well recognized in dogs and other mammals, the prevalence of trace insufficiency of the mitral and aortic valves in clinically healthy, young adult dogs is unknown. Methods-In this observational cross-sectional study, 50 clinically healthy, young adult Labrador retrievers without an audible heart murmur were enrolled. All dogs were bred and owned by a single organization. Cardiac screening was requested for all dogs that were intended for breeding. These dogs underwent a cardiac auscultation and transthoracic echocardiography by a veterinary cardiology specialist. If mitral or aortic valve regurgitation was noticed, the jet size was subjectively assessed on color Doppler echocardiography. Pedigree analysis was performed to reveal a possible hereditary background of mitral valve regurgitation. Results-The prevalence of trivial mitral valve regurgitation was 52% with no significant predisposition to gender ( p = 0.86) or haircoat color ( p = 0.68). The prevalence of aortic valve regurgitation was 4%. Pedigree analysis for mitral valve regurgitation showed familial clustering, suggesting a hereditary background of the trait. Conclusions-The prevalence of silent trace mitral valve regurgitation in young adult Labrador retrievers was high. Because the regurgitant jet was trivial in all dogs, it is probably physiologic

Quality of life in dogs with idiopathic epilepsy and their owners with an emphasis on breed: a pilot study

Epilepsy in dogs is a common chronic and serious disorder and may have an impact on the quality of life of the owners as well as the dogs themselves. The aim of this pilot study was to investigate the QoL score of dogs suffering from idiopathic epilepsy and their owners and if possible, investigate whether a breed specific difference exists. Owners, either Dutch or Belgium, were asked to participate in a web based SurveyMonkey questionnaire. A total of 402 questionnaires representing 402 dogs with epilepsy were suitable for further analysis. Of the 402 dogs, 253 were males and 149 were females. Ninety-nine different breeds were represented. Fourteen breeds (177 dogs in total) were used to calculate breed specific scores; Australian Shepherd (n = 8), Beagle (n = 7), Belgian Tervuren dog (n = 9), Belgian Groenendaeler dog (n = 8), Border Collie (n = 38), Chihuahua (n = 9), Dachshund (n = 13), Drentsche Patrijshond (a Dutch partridge dog) (n = 14), French Bulldog (n = 12), Golden Retriever (n = 17), Labrador Retriever (n = 18), and Rottweiler (n = 12). For the Border Collie, there was a statistically significant correlation between “epilepsy related death,” the severity of the seizures (p < 0.001) and cluster seizures (p < 0.001). The quality of life of the Border Collie was scored lower compared to all other dogs (p = 0.02). There were three breeds that had a minimal decrease in the overall quality of life score compared to all other dogs: the Chihuahua (p = 0.03), Dachshund (p = 0.001), and Golden retriever (p = 0.01). The score for “caring for my epileptic dog decreases my own QoL” was high for the Border Collie, Boxer, French Bulldog, and Rottweiler, but was only found to be statistically significantly higher in the Border Collie (p = 0.01). Scores for the Golden Retriever (p = 0.04) and Labrador (p = 0.006) were lower. In conclusion, this study reports breed specific quality of life scores of dogs with epilepsy and their owners, and underlines that breed by itself, is also an important factor when managing epilepsy in dogs