Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.

Assessing the pathogenicity of a disease-associated genetic variant in animals accurately is vital, both on a population and individual scale. At the population level, breeding decisions based on invalid DNA tests can lead to the incorrect inclusion or exclusion of animals and compromise the long-term health of a population, and at the level of the individual animal, lead to incorrect treatment and even life-ending decisions. Criteria to determine pathogenicity are not standardized, i.

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy.

Background And Aims: The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.

Use of respiratory signal analysis to assess severity of Brachycephalic Obstructive Airway Syndrome (BOAS) in dogs.

Brachycephalic Obstructive Airway Syndrome (BOAS) is a potentially life-threatening condition that can be challenging to diagnose and grade objectively. The aim of this study was to investigate the use of respiratory signal analysis to assess severity of BOAS in dogs. Hundred and seventeen client-owned dogs of brachycephalic and non-brachycephalic breeds were enrolled.

Corrigendum: Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.

[This corrects the article DOI: 10.3389/fvets.2024.

Video capsule endoscopy findings in dogs with chronic enteropathy and in healthy dogs.

Background: Video capsule endoscopy is a noninvasive technique for evaluation of the gastrointestinal tract.

Objective: To investigate the safety of using the video capsule ALICAM in dogs with chronic enteropathy (CE) >10 kg, and to compare macroscopic gastrointestinal morphology between CE dogs and healthy controls (HC).

Animals: Fifteen CE dogs and 15 similarly breed, age and body weight matched HC.

The association between taurine concentrations and dog characteristics, clinical variables, and diet in English cocker spaniels: The Canine taURinE (CURE) project.

Background: Occurrence of low blood taurine concentrations (B-TauC) and predisposing factors to taurine deficiency in English Cocker Spaniels (ECS) are incompletely understood.

Objectives: Investigate the occurrence of low B-TauC in a Swedish population of ECS and evaluate the association between B-TauC and dog characteristics, clinical variables, and diet composition.

Animals: One-hundred eighty privately owned ECS.

The Diagnostic Value of Serum Amyloid A and Other Laboratory and Clinical Variables in Cats with Increased Liver Enzyme Activity.

Distinguishing inflammatory from non-inflammatory liver disease in cats may impact management. The study aim was to evaluate if certain diagnostic variables, including Serum Amyloid A (SAA), differ (1) between various clinical disease categories (, , and ) and (2) between cytological findings of severe hepatic lipidosis and other cytological findings in cats with increased liver enzymes. Medical records from 5042 cats, where SAA had been measured, were reviewed, and 566 cats fulfilled inclusion criteria consisting of increased liver enzymes and available biochemical panel results.

Long-Term Effect of Intra-Articular Adipose-Derived Stromal Vascular Fraction and Platelet-Rich Plasma in Dogs with Elbow Joint Disease-A Pilot Study.

(1) Background: The aim of the current pilot study was to describe the long-term effects of a single intra-articular injection of autologous stromal vascular fraction (SVF) with platelet-rich plasma (PRP) in dogs with confirmed elbow OA, using orthopedic lameness scoring and kinetic and kinematic gait analysis. For comparison of normal long-term variation of gait over time, a group of healthy control dogs (CDs) was also evaluated. (2) Methods: A prospective longitudinal clinical pilot study investigating 19 client-owned dogs with elbow OA (OADs) treated with SVF and PRP and eight CDs not receiving treatment.

Evaluation of forelimb gait variation overground at a walk in sound and lame dogs using a combination of diagnostic techniques.

Background: Kinetic and kinematic gait analysis is increasingly practised as a part of lameness evaluation in dogs. The aim of this study was to examine the normal short- and long-term variation in forelimb gait in sound control dogs (CD) at a walk using seven selected variables of objective kinetic and kinematic gait analyses. Also, to compare the findings in CD to a group of forelimb lame dogs with elbow osteoarthritis (OAD).

Assessment of glial fibrillary acidic protein and anti-glial fibrillary acidic protein autoantibody concentrations and necrotising meningoencephalitis risk genotype in dogs with pug dog myelopathy.

Background: Pugs commonly present with thoracolumbar myelopathy, also known as pug dog myelopathy (PDM), which is clinically characterised by progressive signs involving the pelvic limbs, no apparent signs of pain and, often, incontinence. In addition to meningeal fibrosis and focal spinal cord destruction, histopathology has confirmed lymphohistiocytic infiltrates in the central nervous system (CNS) in a considerable number of pugs with PDM. Lymphohistiocytic CNS inflammation also characterises necrotising meningoencephalitis (NME) in pugs.

Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.

Introduction: The correct labeling of a genetic variant as pathogenic is important as breeding decisions based on incorrect DNA tests can lead to the unwarranted exclusion of animals, potentially compromising the long-term health of a population. In human medicine, the American college of Medical Genetics (ACMG) guidelines provide a framework for variant classification. This study aims to apply these guidelines to six genetic variants associated with hypertrophic cardiomyopathy (HCM) in certain cat breeds and to propose a modified criterion for variant classification.

Veterinary echocardiographers' preferences for left atrial size assessment in dogs: the BENEFIT project.

Introduction/objectives: Veterinary echocardiographers' preferences for left atrial (LA) size assessment in dogs have never been systematically investigated. The primary aim of this international survey study was to investigate echocardiographers' preferences for LA size assessment in dogs. The secondary aim was to investigate echocardiographers' preferences for assessing LA size in subgroups based on geographic, demographic, and professional profiles.

Veterinary echocardiographers' preferences for left atrial size assessment in cats: the BENEFIT project.

Introduction/objectives: Veterinary echocardiographers' preferences for left atrial (LA) size assessment in cats have not been systematically investigated. The primary aim of this prospective exploratory study was to investigate echocardiographers' preferences concerning LA size assessment in cats. A secondary aim was to investigate echocardiographers' preferences for assessing LA size in subgroups based on geographic, demographic, and professional profiles.

Sonographic features of the uncomplicated postoperative abdomen in dogs treated for pyometra by ovariohysterectomy.

Pyometra is a prevalent disease in intact bitches and the standard treatment is ovariohysterectomy (OHE). Published descriptions of normal sonographic findings after OHE are currently lacking. The aims of this prospective observational study were to describe and compare postoperative abdominal sonographic features for three timepoints following OHE in a group of dogs with pyometra and an uneventful recovery.

No impact of polymorphism in the phosphodiesterase 5A gene in Cavalier King Charles Spaniels on pimobendan-induced inhibition of platelet aggregation response.

Background: A variant in the canine phosphodiesterase (PDE) 5A gene (PDE5A:E90K) is associated with decreased concentrations of circulating cyclic guanosine monophosphate (cGMP) and response to PDE5 inhibitor treatment. Pimobendan is a PDE inhibitor recommended for medical treatment of certain stages of myxomatous mitral valve disease (MMVD) in dogs.

Hypothesis: PDE5A:E90K polymorphism attenuates the inhibitory effect of pimobendan on in vitro platelet aggregation and increases basal platelet aggregation in Cavalier King Charles Spaniels (CKCS).

Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.

Background: Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases have a genetic etiology; however, as a complex disease, the exact genetic risk factors are largely unknown, and many patients remain without a molecular diagnosis.

Methods: We performed GWAS followed by whole-genome, transcriptome, and immunohistochemical analyses in a spontaneously occurring canine model of DCM.

Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs.

Rickets is a disorder of bone development and can be the result of either dietary or genetic causes. Here, related pugs from 2 litters were included. Three pugs had clinical signs including, lameness, bone deformities, and dyspnea.

The epidemiology of upper respiratory tract disorders in a population of insured Swedish dogs (2011-2014), and its association to brachycephaly.

Upper respiratory tract (URT) disorders are common in dogs but neither general nor breed-related epidemiological data are widely reported. This study´s aims were to describe the epidemiology of URT disorders in a Swedish population of dogs and to investigate whether brachycephalic breeds were overrepresented among high-risk breeds. A cohort of dogs insured by Agria Djurförsäkring in Sweden (2011-2014) was used to calculate overall and breed-specific incidence rate (IR), age at first URT diagnosis and relative risk (RR) for URT disorders.

Multiple Genetic Loci Associated with Pug Dog Thoracolumbar Myelopathy.

Pug dogs with thoracolumbar myelopathy (PDM) present with a specific clinical phenotype that includes progressive pelvic limb ataxia and paresis, commonly accompanied by incontinence. Vertebral column malformations and lesions, excessive scar tissue of the meninges, and central nervous system inflammation have been described. PDM has a late onset and affects more male than female dogs.

Evaluation of cardiac troponin I as a predictor of death in critically ill cats.

Background: Abnormally high serum cardiac troponin I (cTnI) concentration, reflecting leakage from or necrosis of cardiomyocytes, is a negative prognosticator for death in dogs.

Objectives: To investigate in critically ill cats whether serum cTnI concentration is abnormally high, identify conditions associated with abnormally high cTnI concentrations, and evaluate cTnI as an independent prognosticator for death and a potential coprognosticator to the acute patient physiologic and laboratory evaluation (APPLE) score in cats.

Animals: One hundred nineteen cats admitted to intensive care units (ICU) and 13 healthy cats at 2 university teaching hospitals.

Impact of blood tube additives and timing of sampling on blood taurine concentrations in clinically healthy dogs.

Introduction: Dilated cardiomyopathy can be associated with taurine deficiency in dogs. Blood taurine concentrations can be analyzed in whole blood (WB) and plasma. The study objectives were to investigate agreement between taurine concentrations measured in WB, heparin plasma, and EDTA plasma, determine intraindividual variation in healthy dogs, and evaluate if time from feeding to sampling impacts concentrations.

A Questionnaire Survey on Long-Term Outcomes in Cats Breed-Screened for Feline Cardiomyopathy.

Feline cardiomyopathy (FCM) is an important contributor to feline morbidity and mortality. This explorative follow-up questionnaire study was aimed at investigating the long-term outcome in cats breed-screened for FCM (BS-FCM) in three Nordic countries. Records of cats with ≥1 BS-FCM between 2004−2015 were included.

Cardiac troponin I in healthy Norwegian Forest Cat, Birman and domestic shorthair cats, and in cats with hypertrophic cardiomyopathy.

Objectives: The aims of this study were to assess the potential associations between the serum cardiac troponin I (cTnI) concentration in healthy cats and feline characteristics, systolic blood pressure, heart rate (HR), echocardiographic measurements and storage time; and to compare cTnI concentrations in healthy cats with concentrations in cats with hypertrophic cardiomyopathy (HCM), with or without left atrial enlargement (LAE) and in cats with HCM, to assess potential associations between cTnI concentration and echocardiographic variables.

Methods: Cardiac TnI was analysed using an Abbott ARCHITECT ci16200 analyser in serum from prospectively included healthy Norwegian Forest Cat (NF; n = 33), Birman (n = 33) and domestic shorthair (DSH; n = 30) cats, and from 39 cats with HCM, with or without LAE.

Results: In healthy cats, higher cTnI concentrations were found in Birman cats than in NF cats ( = 0.

Chronic Enteropathy in Dogs-Epidemiologic Aspects and Clinical Characteristics of Dogs Presenting at Two Swedish Animal Hospitals.

Information about prevalence and breed predisposition of canine chronic enteropathy (CE) is limited. The aim of this retrospective study was to investigate period prevalence, breed disposition, clinical features, diagnostic results, and treatment response of CE in dogs presenting at two Swedish animal hospitals during 2013−2018. A medical record search was performed to identify CE dogs including those with ≥3 visits because of gastrointestinal disease and/or that had undergone gastroduodenoscopy/colonoscopy during 2013−2018.

The TNNT2:c.95-108G>A variant is common in Maine Coons and shows no association with hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a common and potentially fatal heart disease in many cat breeds. An intronic variant in TNNT2, c.95-108G>A, was recently reported as the cause of HCM in the Maine Coon.