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Objectives: To establish normal reference ranges for standard echocardiographic measurements in Salukis and to examine whether bodyweight, age, gender and heart rate had an influence on the echocardiographic variables., Materials and Methods: Seventy-five privately owned healthy purebred Salukis, aged 2 to 10 years were included. Case history was obtained and dogs were examined by physical examination, complete blood cell count, serum biochemistry and echocardiography. Associations between bodyweight, gender, sex and heart rate and echocardiographic variables were examined using multiple linear regression analysis and allometric scaling. Reference values with 95% prediction intervals were calculated from regression equations., Results: Bodyweight was a significant predictor of left ventricular diameters, left ventricular volumes and E-point-to-septal-separation. Associations between bodyweight and the echocardiographic variables were best described by multiple linear regression models, providing bodyweight-based reference values. Age, gender and heart rate had significant effect on some of the echocardiographic variables and were included in the final models. When the equation included heart rate or age, reference values were calculated using mean heart rate value (80 bpm) and median age value (73 months)., Clinical Significance: This study provides detailed bodyweight-based echocardiographic values in normal Salukis which can be used as reference values., (© 2019 British Small Animal Veterinary Association.)

Pharyngeal tonsillitis is one of the most common upper respiratory tract infections, and group A streptococcus is the most important bacterial pathogen causing it. While most patients experience tonsillitis only rarely, a subset of patients suffers from recurrent or chronic tonsillitis or pharyngitis. The predisposing factors for recurring or chronic forms of this disease are not yet fully understood, but genetic predisposition has been suggested. A genetic association study using Illumina's Immunochip single-nucleotide polymorphism (SNP) array was performed to search for new genetic biomarkers in pharyngeal tonsillitis. More than 100,000 SNPs relevant to immune-mediated diseases were analyzed in a cohort of 95 patients subjected to tonsillectomy due to recurrent/chronic tonsillitis and 504 controls. Genetic association between the cases and controls showed strongest association with two peaks in the HLA locus (odds ratio [OR], 3.7 to 4.7; P = 4.9 × 10 -6 to 5.7 × 10 -6 ). Further analysis with imputed classical HLA alleles suggested the known psoriasis risk allele HLA-C*06:02 as a risk factor for tonsillitis ( P = 4.8 × 10 -4 ; OR, 2.3). In addition, the imputed HLA haplotype HLA-C*06:02/HLA-B*57:01 , a reported risk haplotype in psoriasis, had the strongest risk for tonsillitis ( P = 3.2 × 10 -4 ; OR, 6.5). These findings further support the previously reported link between streptococcal throat infections and psoriasis., (Copyright © 2018 American Society for Microbiology.)

Background: In the last decade, a disorder characterized by episodes of involuntary movements and dystonia has been recognized in Border Terriers., Objectives: To define clinical features of paroxysmal dyskinesia (PD) in a large number of Border Terriers and to study the genetics of the disease., Animals: 110 affected and 128 unaffected client-owned Border Terriers., Methods: A questionnaire regarding clinical characteristics of PD was designed at Utrecht University and the University of Helsinki. Thirty-five affected Border Terriers underwent physical examination and blood testing (hematology and clinical biochemistry). Diagnostic imaging of the brain was performed in 17 affected dogs and electroencephalograms (EEG) between episodes were obtained in 10 affected dogs. A genomewide association study (GWAS) was performed with DNA of 110 affected and 128 unaffected dogs., Results: One hundred forty-seven questionnaires were included in the study. The most characteristic signs during episodes were dystonia, muscle fasciculations, and falling over. The majority of owners believed that their dogs remained conscious during the episodes. A beneficial effect of anti-epileptic therapy was observed in 29 of 43 dogs. Fifteen owners changed their dogs' diet to a hypoallergenic, gluten-free diet, and all reported reasonable to good improvement of signs. Clinical examinations and diagnostic test results were unremarkable. The GWAS did not identify significantly associated chromosome regions., Conclusions and Clinical Importance: The survey results and EEG studies provided further evidence that the observed syndrome is a PD rather than epilepsy. Failure to achieve conclusive results by GWAS indicates that inheritance of PD in Border Terriers probably is complex., (Copyright © 2017 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.)

Preeclampsia (PE) is a common vascular disease of pregnancy with genetic predisposition. Dysregulation of the complement system has been implicated, but molecular mechanisms are incompletely understood. In this study, we determined the potential linkage of severe PE to the most central complement gene, C3 . Three cohorts of Finnish patients and controls were recruited for a genetic case-control study. Participants were genotyped using Sequenom genotyping and Sanger sequencing. Initially, we studied 259 Finnish patients with severe PE and 426 controls from the Southern Finland PE and the Finnish population-based PE cohorts. We used a custom-made single nucleotide polymorphism (SNP) genotyping assay consisting of 98 SNPs in 18 genes that encode components of the complement system. Following the primary screening, C3 was selected as the candidate gene and consequently Sanger sequenced. Fourteen SNPs from C3 were also genotyped by a Sequenom panel in 960 patients with severe PE and 705 controls, including already sequenced individuals. Three of the 43 SNPs observed within C3 were associated with severe PE: rs2287845 ( p  = 0.038, OR = 1.158), rs366510 ( p  = 0.039, OR = 1.158), and rs2287848 ( p  = 0.041, OR = 1.155). We also discovered 16 SNP haplotypes with extreme linkage disequilibrium in the middle of the gene with a protective ( p  = 0.044, OR = 0.628) or a predisposing ( p  = 0.011, OR = 2.110) effect to severe PE depending on the allele combination. Genetic variants associated with PE are located in key domains of C3 and could thereby influence the function of C3. This is, as far as we are aware, the first candidate gene in the complement system with an association to a clinically relevant PE subphenotype, severe PE. The result highlights a potential role for the complement system in the pathogenesis of PE and may help in defining prognostic and therapeutic subgroups of preeclamptic women.