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1.
Front Vet Sci ; 11: 1327081, 2024.
Article En | MEDLINE | ID: mdl-38371598

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. Methods: Genetic samples were sourced from five cat breeds: Maine Coon, Sphynx, Ragdoll, Devon Rex, and British Short- and Longhair. Allele frequencies were determined, and in the subset with phenotypes available, odds ratios to determine the association with HCM were calculated. In silico evaluation followed with joint evidence and data from other publications assisting in the classification of each variant. Results: Two variants, MYBPC3:c.91G > C [A31P] and MYBPC3:c.2453C > T [R818W], were designated as pathogenic. One variant, MYH7:c.5647G > A [E1883K], was found likely pathogenic, while the remaining three were labeled as variants of unknown significance. Discussion: Routine genetic testing is advised solely for the MYBPC3:c.91G > C [A31P] in the Maine Coon and MYBPC3:c.2453C > T [R818W] in the Ragdoll breed. The human ACMG guidelines serve as a suitable foundational tool to ascertain which variants to include; however, refining them for application in veterinary medicine might be beneficial.

2.
Vet Med Sci ; 9(4): 1534-1540, 2023 07.
Article En | MEDLINE | ID: mdl-37139641

BACKGROUND: Activated clotting times (ACTs) are used to screen for coagulopathies and monitor heparin therapy. OBJECTIVES: To determine a reference interval (RI) for ACT in dogs using a point-of-care analyser, to quantify intra-subject within- and between-day variability, to quantify analyser reliability and inter-analyser agreement and to study the influence of a delay in measurement. METHODS: Forty-two healthy dogs were included. Measurements were performed on fresh venous blood using the i-STAT 1 analyser. The RI was determined using the Robust method. Intra-subject within-day variability and between-day variability were quantified between baseline and 2 h (n = 8) or 48 h (n = 10) later. Analyser reliability and inter-analyser agreement were studied by duplicate measurements (n = 8) on identical analysers. The influence of measurement delay was studied before and after a delay of one analytical run (n = 6). RESULTS: Mean, lower and upper reference limits for ACT were 92.9 ± 9.1, 74.4 and 111.2 s, respectively. Coefficients of variation of intra-subject within- and between-day variability were 8.1% and 10.4%, respectively, resulting in a significant between-day measurement difference. Analyser reliability assessed by the intraclass correlation coefficient and coefficient of variation were 0.87% and 3.3%, respectively. Significantly lower ACT values were observed after a measurement delay compared to direct analysis. CONCLUSIONS: Our study provides an RI for ACT in healthy dogs using the i-STAT 1 and suggests low intra-subject within- and between-day variability. Analyser reliability and inter-analyser agreement were good; however, analysis delay and between-day differences could significantly influence ACT results.


Point-of-Care Systems , Dogs , Animals , Reproducibility of Results
3.
J Am Vet Med Assoc ; 261(7): 1-8, 2023 07 01.
Article En | MEDLINE | ID: mdl-36853876

OBJECTIVE: Agreement of systolic blood pressure measurements (SBP) between noninvasive blood pressure devices in conscious dogs is poorly studied. Situational hypertension is expected in clinics, but studies are lacking. This study aimed to compare SBP measurements obtained with Doppler ultrasonic flow detector (Doppler) versus high-definition oscillometry (HDO) in clinics and at home and to estimate the prevalence of situational hypertension in conscious, apparently healthy elderly dogs. ANIMALS: 122 apparently healthy elderly or geriatric dogs were prospectively recruited. PROCEDURES: Systolic blood pressure was obtained consecutively with Doppler and HDO techniques in a randomized order per dog, following a standardized protocol. An at-home measurement was advised for in-clinic hypertensive dogs (SBP ≥ 160 mmHg), also using both devices. RESULTS: Dual measurements were available in 102 dogs. Median SBP was 147.3 mmHg (range, 105 to 239 mmHg) for Doppler and 152.3 mmHg (range, 113 to 221 mmHg) for HDO. Forty-six percent (56/122) were hypertensive, of which 9% (11/122) were hypertensive with both methods. No significant difference was found between the 2 devices in the global study population or within the group of hypertensive dogs. Repeated at-home measurements were performed in 20/56 (35.7%) hypertensive dogs, resulting in a 10 and 26 mmHg lower median SBP value for Doppler and HDO, respectively (P > .05). In-clinic situational hypertension was presumed in 8/20 (40%) dogs. CLINICAL RELEVANCE: The choice of the noninvasive blood pressure device did not significantly impact SBP results, but large interindividual differences in SBP between techniques occurred. Situational hypertension was frequently observed in clinic.


Dog Diseases , Hypertension , Animals , Dogs , Blood Pressure , Blood Pressure Determination/veterinary , Blood Pressure Determination/methods , Dog Diseases/diagnosis , Hypertension/diagnosis , Hypertension/veterinary , Individuality , Oscillometry/veterinary , Oscillometry/methods , Ultrasonography, Doppler/veterinary
4.
Animals (Basel) ; 12(21)2022 Oct 25.
Article En | MEDLINE | ID: mdl-36359052

(1) Feline dystrophin-deficient muscular dystrophy (ddMD) is a fatal disease characterized by progressive weakness and degeneration of skeletal muscles and is caused by variants in the DMD gene. To date, only two feline causal variants have been identified. This study reports two cases of male Maine coon siblings that presented with muscular hypertrophy, growth retardation, weight loss, and vomiting. (2) Both cats were clinically examined and histopathology and immunofluorescent staining of the affected muscle was performed. DMD mRNA was sequenced to identify putative causal variants. (3) Both cats showed a significant increase in serum creatine kinase activity. Electromyography and histopathological examination of the muscle samples revealed abnormalities consistent with a dystrophic phenotype. Immunohistochemical testing revealed the absence of dystrophin, confirming the diagnosis of dystrophin-deficient muscular dystrophy. mRNA sequencing revealed a nonsense variant in exon 11 of the feline DMD gene, NC_058386.1 (XM_045050794.1): c.1180C > T (p.(Arg394*)), which results in the loss of the majority of the dystrophin protein. Perfect X-linked segregation of the variant was established in the pedigree. (4) ddMD was described for the first time in the Maine coon and the c.1180C>T variant was confirmed as the causal variant.

5.
Animals (Basel) ; 12(21)2022 Nov 02.
Article En | MEDLINE | ID: mdl-36359129

Combretastatin A4-phosphate (CA4P) is a vascular disrupting agent that was recently described for the treatment of solid canine tumors. Conventional echocardiography and pulsed wave tissue Doppler imaging did not reveal cardiotoxicity in dogs, however, the gold standard for assessing myocardial damage in humans receiving cardiotoxic chemotherapeutics is two-dimensional speckle-tracking echocardiography. The current study evaluated the cardiotoxic effect of a single dose of CA4P in dogs using peak systolic strain measurements and the variability of these measurements. Echocardiographic examinations of seven healthy beagles and five canine cancer patients that received CA4P were retrospectively reviewed. Peak systolic regional longitudinal strain (LSt), peak systolic regional circumferential strain (CSt), and peak systolic regional radial strain (RSt) were measured before and 24 h after administration of CA4P. Peak systolic strain measurements were compared to serum cardiac troponin I (cTnI). To quantify intra- and inter-observer measurement variability, seven echocardiographic examinations were selected and each strain parameter was measured by three observers on three consecutive days. After CA4P administration, the median LSt and CSt values decreased by 21.8% (p = 0.0005) and 12.3% (p = 0.002), respectively, whereas the median RSt values were not significantly different (p = 0.70). The decrease in LSt was correlated with increased serum cTnI values (Spearman rho = -0.64, p = 0.02). The intra-observer coefficients of variation (CV) were 9%, 4%, and 13% for LSt, CSt, and RSt, respectively, while the corresponding interobserver CVs were 11%, 12%, and 20%. Our results suggest that regional peak systolic strain measurements may be useful for the early detection of cardiotoxicity that is caused by vascular disrupting agents and that LSt may be promising for the follow-up of canine cancer patients.

6.
Animals (Basel) ; 12(15)2022 Aug 08.
Article En | MEDLINE | ID: mdl-35953997

Corneal sequestra are ophthalmic lesions that are remarkably common in Persian, Himalayan and exotic cats. In this study, the genetic aspects of this disease were investigated in a population of cats originating from a single cattery. Odds ratios were calculated for parents with affected offspring. The heritability of (owner-reported) corneal sequestra was estimated with a Markov chain Monte Carlo procedure. Well-phenotyped cases and controls were used for a genome-wide association study. Data from 692 cats originating from the cattery, of which 61 were affected, were used. Cats from two specific mothers had significantly higher odds of developing corneal sequestra, but no significant effect of the fathers was found (after correction for the mothers). The heritability of corneal sequestra was estimated to be 0.96. A genome-wide association study with 14 cases and 10 controls did not reveal an associated chromosomal region. The large effect that genetic factors had on the development of corneal sequestra in this study suggests that selective breeding could be an effective way to reduce the prevalence of this condition in these cat breeds.

7.
J Vet Intern Med ; 36(5): 1782-1791, 2022 Sep.
Article En | MEDLINE | ID: mdl-35906901

BACKGROUND: In people and dogs, torasemide has higher bioavailability, longer half-life, and longer duration of action than equivalent doses of furosemide but data regarding pharmacological properties of torasemide in cats are limited. OBJECTIVE: To assess pharmacokinetic and pharmacodynamic parameters of torasemide in healthy cats, and to investigate the effects of a single administration of torasemide on indicators of diuresis, plasma creatinine concentration, blood pressure, electrolyte concentrations and markers of the renin-angiotensin-aldosterone system (RAAS). ANIMALS: Six clinically healthy adult European shorthair cats. METHODS: Randomized 4-period crossover design with 3 groups and 4 treatments. Pharmacokinetic parameters were obtained using a noncompartmental analysis, and the clinically effective dose was assessed using a Hill model. RESULTS: Mean absolute bioavailability was estimated at 88.1%. Mean total body clearance was 3.64 mL/h/kg and mean terminal half-life was 12.9 hours. Urine output significantly increased after torasemide administration (P < .001). The urine sodium : potassium ratio (uNa : uK) paralleled and was statistically correlated to urine output (P < .001). Administration of a single torasemide dose led to a significant dose-dependent increase in urine aldosterone : creatinine ratio (uAldo : C; P < .001) and a transient decrease in plasma potassium concentration (P < .001) but did not affect blood pressure or plasma creatinine concentration. CONCLUSIONS AND CLINICAL IMPORTANCE: A single torasemide dose leads to a significant increase in diuresis and renin-angiotensin-aldosterone system (RAAS) activation in healthy cats, with high absolute bioavailability, and without clinically relevant adverse effects. Pharmacokinetic parameters indicate that once daily dosing of 0.27 mg/kg may be appropriate in a clinical setting.


Diuretics , Furosemide , Aldosterone , Animals , Cats , Creatinine , Dogs , Electrolytes , Furosemide/pharmacology , Humans , Potassium , Sodium , Sulfonamides , Torsemide
8.
Anim Genet ; 53(4): 526-529, 2022 Aug.
Article En | MEDLINE | ID: mdl-35634705

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. The aim of this study was to determine this variant's allele frequency in different populations and its possible association with HCM. Based on 160 Maine Coon samples collected in Belgium, Italy, Sweden and the USA, the variant's allele frequency was estimated to be 0.32. Analysis of the 99 Lives feline whole genome sequencing database showed that the TNNT2 variant also occurs in other breeds, as well as mixed-breed cats. Comparison of 31 affected and 58 healthy cats did not reveal significantly increased odds for HCM in homozygotes. Based on the combined evidence and in agreement with the standards and guidelines for the interpretation of sequence variants, this variant is currently classified as a variant of unknown significance and should not be used for breeding decisions regarding HCM.


Cardiomyopathy, Hypertrophic , Cat Diseases , Animals , Cardiomyopathy, Hypertrophic/genetics , Cardiomyopathy, Hypertrophic/veterinary , Carrier Proteins/genetics , Cats , Homozygote , Mutation , Whole Genome Sequencing
9.
Vet Rec Open ; 9(1): e35, 2022 Dec.
Article En | MEDLINE | ID: mdl-35463460

Background: Diagnosis as well as management of arrhythmias in dogs can be challenging for veterinary practitioners. The aim was to describe ECG availability and use, as well as the diagnostic and therapeutic experiences and preferences of Flemish veterinarians regarding cardiac arrhythmias in dogs. Methods: Cross-sectional online survey among veterinarians in Flanders (Belgium). Results: An ECG device was available for 55 out of 102 respondents (54%) and 41 (43%) claimed to use it in case of arrhythmia suspicion. Insufficient knowledge about ECG interpretation and immediate patient referral upon detection of an abnormal heart rhythm were the most important reasons for not having, or not using, an ECG. About half of the respondents (56%) had never used anti-arrhythmic drugs in dogs, although only a few reported having had a negative experience. Frequently provided reasons for not using anti-arrhythmic drugs included insufficient knowledge and a low number of dogs with arrhythmias. Conclusion: Most veterinarians reported having little or no expertise with arrhythmias in dogs. Electrocardiogram availability and use among respondents was moderate and too often restricted by insufficient ECG interpretation skills. Continued efforts are needed to increase the confidence and knowledge of veterinarians about arrhythmias in dogs.

10.
J Vet Intern Med ; 35(4): 1652-1662, 2021 Jul.
Article En | MEDLINE | ID: mdl-34096660

BACKGROUND: Hypochloremia is a strong negative prognostic factor in humans with congestive heart failure (CHF), but the implications of electrolyte abnormalities in small animals with acute CHF are unclear. OBJECTIVES: To document electrolyte abnormalities present upon admission of small animals with acute CHF, and to assess the relationship between electrolyte concentrations and diuretic dose, duration of hospitalization and survival time. ANIMALS: Forty-six dogs and 34 cats with first onset of acute CHF. METHODS: Retrospective study. The associations between electrolyte concentrations and diuretic doses were evaluated with Spearman rank correlation coefficients. Relationship with duration of hospitalization and survival were assessed by simple linear regression and Cox proportional hazard regression, respectively. RESULTS: The most commonly encountered electrolyte anomaly was hypochloremia observed in 24% (9/46 dogs and 10/34 cats) of cases. In dogs only, a significant negative correlation was identified between serum chloride concentrations at admission (median 113 mmol/L [97-125]) and furosemide doses both at discharge (median 5.2 mg/kg/day [1.72-9.57]; r = -0.59; P < .001) and at end-stage heart failure (median 4.7 mg/kg/day [2.02-7.28]; r = -0.62; P = .005). No significant hazard ratios were found for duration of hospitalization nor survival time for any of the electrolyte concentrations. CONCLUSIONS AND CLINICAL IMPORTANCE: The observed association between serum chloride concentrations and diuretic doses suggests that hypochloremia could serve as a marker of disease severity and therapeutic response in dogs with acute CHF.


Cat Diseases , Dog Diseases , Heart Failure , Animals , Cat Diseases/drug therapy , Cats , Diuretics/therapeutic use , Dog Diseases/drug therapy , Dogs , Electrolytes , Furosemide/therapeutic use , Heart Failure/drug therapy , Heart Failure/veterinary , Retrospective Studies
11.
Vet J ; 274: 105696, 2021 Aug.
Article En | MEDLINE | ID: mdl-34148018

Sudden death is one of the most common causes of death in humans in Western countries. Approximately 85% of these cases are of cardiac origin. In dogs and cats, sudden cardiac death (SCD) also commonly occurs, but fewer pathophysiological and prevalence data are available. Both structural, primarily 'electrical' and ischemic heart diseases are known to cause SCD, many of which share similar underlying arrhythmogenic mechanisms between humans and companion animals. As for underlying genetics, numerous mutations on multiple loci have been related to SCD in humans, but only a few mutations associated with dilated cardiomyopathy and SCD have been identified in dogs, e.g. in the phospholamban and titin genes. Information published from human medicine can therefore inform future veterinary studies, but also dogs and cats could act as spontaneous models of SCD in humans. Further research in both fields is therefore warranted to better understand the pathophysiology, genetics, and prevention of SCD.


Cat Diseases/etiology , Death, Sudden, Cardiac/etiology , Dog Diseases/etiology , Animals , Arrhythmias, Cardiac/genetics , Arrhythmias, Cardiac/veterinary , Cardiomyopathy, Dilated/etiology , Cardiomyopathy, Dilated/genetics , Cardiomyopathy, Dilated/veterinary , Cat Diseases/genetics , Cats , Death, Sudden, Cardiac/veterinary , Dog Diseases/genetics , Dogs , Humans , Mutation , Myocardial Ischemia/etiology , Myocardial Ischemia/genetics , Myocardial Ischemia/veterinary , Risk Factors
13.
J Vet Intern Med ; 35(3): 1376-1388, 2021 May.
Article En | MEDLINE | ID: mdl-33723886

BACKGROUND: Liver-type fatty acid-binding protein (L-FABP) and neutrophil gelatinase-associated lipocalin (NGAL) are candidate biomarkers for the detection of early chronic kidney disease (CKD) in cats. OBJECTIVE: To evaluate urinary and serum L-FABP and NGAL concentrations in CKD cats and in hyperthyroid cats before and after radioiodine (131 I) treatment. ANIMALS: Nine CKD cats, 45 healthy cats and hyperthyroid cats at 3 time points including before (T0, n = 49), 1 month (T1, n = 49), and 11 to 29 months after (T2, n = 26) 131 I treatment. METHODS: Cross-sectional and longitudinal study. Serum L-FABP (sL-FABP), serum NGAL (sNGAL), urinary L-FABP (uL-FABP), and urinary NGAL (uNGAL) were compared between the 3 groups and between hyperthyroid cats before and after treatment. Data are reported as median (min-max). RESULTS: CKD cats had significantly higher sL-FABP (13.50 [3.40-75.60] ng/ml) and uL-FABP/Cr (4.90 [0.97-2139.44] µg/g) than healthy cats (4.25 [1.34-23.25] ng/ml; P = .01 and 0.46 [0.18-9.13] µg/g; P < .001, respectively). Hyperthyroid cats at T0 had significantly higher uL-FABP/Cr (0.94 [0.15-896.00] µg/g) than healthy cats (P < .001), thereafter uL-FABP/Cr significantly decreased at T2 (0.54 [0.10-76.41] µg/g, P = .002). For the detection of CKD, uL-FABP/Cr had 100% (95% confidence interval [CI], 66.4-100.0) sensitivity and 93.2% (95% CI, 81.3-98.6) specificity. There were no significant differences in sNGAL and uNGAL/Cr between the 3 groups. CONCLUSIONS AND CLINICAL IMPORTANCE: L-FABP, but not NGAL, is a potential biomarker for the detection of early CKD in cats. Utility of uL-FABP to predict azotemia after treatment in hyperthyroid cats remains unknown.


Acute Kidney Injury , Cat Diseases , Hyperthyroidism , Renal Insufficiency, Chronic , Acute Kidney Injury/veterinary , Acute-Phase Proteins , Animals , Biomarkers , Cats , Cross-Sectional Studies , Fatty Acid-Binding Proteins , Hyperthyroidism/veterinary , Iodine Radioisotopes , Lipocalin-2 , Lipocalins , Liver , Longitudinal Studies , Proto-Oncogene Proteins , Renal Insufficiency, Chronic/veterinary
14.
J Vet Cardiol ; 30: 69-76, 2020 Aug.
Article En | MEDLINE | ID: mdl-32688282

A 2.5-year-old female intact British Shorthair was presented for progressive complaints of abdominal distention, increased respiratory effort, lethargy and hyporexia. Based on the clinical presentation and a loud heart murmur, a cardiac cause was suspected. An echocardiogram was performed and the presumptive diagnosis of infective endocarditis of the aortic, mitral and pulmonic valves was made. Antemortem blood culture and postmortem valve biopsy confirmed bacterial endocarditis with Enterococcus hirae as etiological agent. To the authors' best knowledge, this case report is the first to describe an infective endocarditis with vegetative lesions on three cardiac valves associated with a ventricular septal defect in a cat, and Enterococcus hirae as causative agent for endocarditis in small animals.


Cat Diseases/diagnosis , Endocarditis, Bacterial/veterinary , Enterococcus hirae/isolation & purification , Gram-Positive Bacterial Infections/veterinary , Heart Septal Defects, Ventricular/veterinary , Animals , Cat Diseases/blood , Cat Diseases/diagnostic imaging , Cat Diseases/microbiology , Cats , Diagnosis, Differential , Echocardiography/veterinary , Endocarditis, Bacterial/complications , Endocarditis, Bacterial/diagnosis , Euthanasia , Female , Gram-Positive Bacterial Infections/complications , Gram-Positive Bacterial Infections/diagnosis , Heart Septal Defects, Ventricular/complications , Pedigree
15.
BMC Vet Res ; 16(1): 217, 2020 Jun 29.
Article En | MEDLINE | ID: mdl-32600351

BACKGROUND: Echocardiography is the most frequently used non -invasive diagnostic tool to evaluate cardiac anatomy and function in domestic species but increasingly also in non -domestic species, especially since cardiac disease is being recognized as an important cause of death in captive primates. The purpose of this cross -sectional study was to investigate the feasibility of transthoracic echocardiography in healthy squirrel monkeys as well as to provide species specific normal values for standard echocardiographic measurements. A secondary aim was to determine plasma and serum levels of the cardiac biomarkers, N -terminal pro -brain natriuretic peptide (NT -proBNP) and cardiac troponin T (cTnT). Furthermore, a commercial, non -invasive, smartphone -based ECG (AliveCor Vet TM) monitoring device was used to evaluate the heart rate and rhythm and to diagnose possible arrhythmias. RESULTS: In this study, transthoracic echocardiography of 14 squirrel monkeys was performed in right and left lateral recumbency. Similar standard right parasternal and left apical images were obtained as in dogs and cats and normal values for routine two -dimensional, time motion mode and Doppler mode measurements were generated. Thirteen animals were considered healthy and one squirrel monkey was identified with significant aortic dilation and regurgitation and consequently values obtained from this animal were not used when species specific normal values were calculated. NT -ProBNP and cTnT concentrations were available for 7 of the 13 healthy monkeys with NT -proBNP concentrations below detection limit in all animals and a mean cTnT concentration of 0.049 ng/mL. Electrocardiography was performed in all squirrel monkeys. The mean heart rate was 172 bpm. Frequent supraventricular premature beats were diagnosed in the squirrel monkey suffering from significant aortic dilation and regurgitation. CONCLUSION: This study presents echocardiographic normal values and additional cardiovascular data in anaesthetised Saimiri monkeys, fundamental from both the perspective of zoo animal health care as well as scientific research, since the squirrel monkey is often used as an animal model for human disease.


Biomarkers/blood , Echocardiography/veterinary , Saimiri/physiology , Animals , Aortic Diseases/diagnostic imaging , Aortic Diseases/veterinary , Atrial Premature Complexes/veterinary , Echocardiography/methods , Female , Male , Natriuretic Peptide, Brain/blood , Peptide Fragments/blood , Primate Diseases/diagnosis , Primate Diseases/diagnostic imaging , Reference Values , Troponin T/blood
16.
J Zoo Wildl Med ; 51(2): 308-320, 2020 Jun.
Article En | MEDLINE | ID: mdl-32549560

Cardiac disease has been recognized as a major cause of death in captive nonhuman primates, which necessitates diagnostic (imaging) techniques to screen for and diagnose preclinical and clinical stages of possible cardiac conditions. Echocardiography is currently the most commonly used diagnostic tool for evaluation of cardiac anatomy and function. Complete with thoracic radiography and blood levels of two cardiac biomarkers, N-terminal probrain natriuretic peptide (NT-proBNP) and cardiac troponin T (cTnT), it gives an extensive examination of the cardiorespiratory system. The purpose of this cross-sectional cohort study is to describe normal thoracic anatomy using thoracic radiography, and to provide normal values for echocardiographic measurements in 20 ring-tailed lemurs (Lemur catta). Additionally, cardiac biomarkers were determined. Three radiographic projections of the thoracic cavity and a complete transthoracic echocardiography were performed in 20 clinically healthy ring-tailed lemurs during their annual health examinations. Similar standard right parasternal and left apical echocardiographic images were obtained as described in dogs and cats and normal values for routine two-dimensional (2D-), time-motion (M-) and Doppler mode measurements were generated. Furthermore, a noninvasive smartphone base ECG recording and blood concentrations of cardiac biomarkers were obtained. Other radiographic measurements are provided for the skeletal and respiratory systems such as the trachea to inlet ratio and tracheal inclination. Knowledge of the normal radiographic thoracic and echocardiographic anatomy and function are fundamental for the diagnosis and follow-up of cardiac disease in affected individuals and for species screening, and will be of added value in future research in and conservation of this endangered species.


Heart/diagnostic imaging , Lemur/anatomy & histology , Thoracic Cavity/diagnostic imaging , Animals , Echocardiography/veterinary , Endangered Species , Female , Male , Radiography, Thoracic/veterinary
17.
Eur J Hum Genet ; 27(11): 1724-1730, 2019 11.
Article En | MEDLINE | ID: mdl-31164718

Hypertrophic cardiomyopathy (HCM) is the most common inherited human heart disease. The same disease has a high prevalence in cats, where it is also suspected to be inherited. More than 1500 variants in MYBPC3, MYH7 and other sarcomeric genes are associated with human HCM, while in cats, only two causative variants in MYBPC3 are currently known. Here, we describe an adult Domestic Shorthair cat with arterial thromboembolism and heart failure that was diagnosed with HCM on necropsy. Sequencing of the coding regions of MYBPC3 and MYH7 revealed 21 variants, of which the MYH7 c.5647G>A (p.(Glu1883Lys)) variant was further analysed, because its orthologous variant had already been reported in a human patient with HCM, but with limited causal evidence. This variant affects the highly conserved assembly competence domain, is predicted in silico to be damaging and was found only once in population databases. Recently, functional studies have confirmed its predicted damaging effect and a paralogous variant in MYH6 has been associated with cardiac disease in humans as well. This report of an orthologous variant in a cat with HCM and its absence in 200 additional cats provides further evidence for its disease-causing nature. As the first report of feline HCM caused by a variant in MYH7, this study also emphasises this gene as a candidate gene for future studies in cats and highlights the similarity between human and feline HCM.


Animal Diseases/genetics , Cardiac Myosins/genetics , Cardiomyopathy, Hypertrophic/genetics , Cats/genetics , Genetic Predisposition to Disease/genetics , Myosin Heavy Chains/genetics , Animals , Carrier Proteins/genetics , Humans , Male
18.
J Vet Intern Med ; 33(2): 516-522, 2019 Mar.
Article En | MEDLINE | ID: mdl-30632628

BACKGROUND: Measurement of serum creatinine (sCr) and urea nitrogen fail to detect decreased renal function in many hyperthyroid cats because of low muscle mass and glomerular hyperfiltration of affected cats. Serum symmetric dimethylarginine (sSDMA) is an earlier and more sensitive renal biomarker than sCr. OBJECTIVE: Evaluate sSDMA as a biomarker of renal function in hyperthyroid cats before (T0) and 1 month after (T1) radioiodine (131 I) treatment. ANIMALS: Forty-seven client-owned hyperthyroid nonazotemic cats were evaluated at T0 and T1. METHODS: A prospective study in which sCr and sSDMA concentrations were determined in 47 hyperthyroid cats at T0 and at T1. Glomerular filtration rate (GFR) was estimated at T0 and T1 in 10 of these 47 cats using plasma exogenous creatinine clearance test. RESULTS: Serum SDMA was elevated (>14 µg/dL) in 6 of 47 cats at T0 and normalized after treatment in 4 of those cats. All cats remained nonazotemic after treatment. In 10 cats in which GFR was measured, correlation between GFR and sSDMA was low and not significant (τb = -0.35, P = .17 at T0 and τb = -.22, P = .41 at T1), whereas correlation between GFR and sCr was moderate and significant (τb = -0.52, P < .05 at T0 and τb = -.53, P = <.05 at T1). CONCLUSIONS AND CLINICAL IMPORTANCE: Careful interpretation of mildly increased sSDMA with normal sCr in hyperthyroid cats is warranted as sSDMA values might normalize after resolution of hyperthyroidism in some cats. In this population of hyperthyroid cats, sSDMA was poorly correlated with GFR.


Arginine/analogs & derivatives , Biomarkers/blood , Cat Diseases/blood , Iodine Radioisotopes/therapeutic use , Animals , Arginine/blood , Blood Urea Nitrogen , Cat Diseases/radiotherapy , Cats , Creatinine/blood , Female , Glomerular Filtration Rate/veterinary , Hyperthyroidism/blood , Hyperthyroidism/radiotherapy , Hyperthyroidism/veterinary , Kidney Function Tests/veterinary , Male , Prospective Studies
19.
PLoS One ; 13(8): e0201646, 2018.
Article En | MEDLINE | ID: mdl-30086141

The purpose of this prospective study was to describe the normal anatomy and provide reference ranges for measurements of thoracic radiography on Squirrel monkeys (n = 13). Thoracic radiography is a common non-invasive diagnostic tool for both cardiac and non-cardiac thoracic structures. Furthermore cardiac disease is a common condition in captive primates. In this study, left-right lateral, right-left lateral and dorsoventral projections of 13 healthy Squirrel monkeys were reviewed during their annual health examinations. The mean Vertebral Heart Score on the left-right and right-left lateral projections were 8,98 ± 0,25 and 8,85 ± 0,35 respectively. The cardio-thoracic ratio on the dorsoventral projection was 0,68 ± 0,03. The trachea to inlet ratio was 0,33 ± 0,04. Other measurements are provided for the skeletal, cardiac and respiratory systems. Knowledge of the normal radiographic thoracic anatomy is fundamental in clinical as well as research settings for accurate diagnosis of diseases.


Radiography, Thoracic/veterinary , Saimiri/anatomy & histology , Animals , Early Diagnosis , Female , Heart/anatomy & histology , Heart Diseases/diagnostic imaging , Heart Diseases/veterinary , Male , Monkey Diseases/diagnostic imaging , Prospective Studies , Spine/anatomy & histology , Thorax/anatomy & histology , Trachea/anatomy & histology
20.
Vet Clin Pathol ; 45(2): 320-9, 2016 Jun.
Article En | MEDLINE | ID: mdl-27228235

BACKGROUND: Serum cystatin C (sCysC) is used as biomarker for glomerular filtration rate (GFR). The effects of diabetes mellitus (DM) on renal function in dogs are unclear. Some renal variables have been evaluated in dogs with hyperadrenocorticism (HAC), but not sCysC. OBJECTIVES: The purpose of this study was the validation of a particle-enhanced nephelometric immunoassay (PENIA) for measuring canine sCysC, and to assess renal function in dogs with DM or HAC. METHODS: A PENIA was analytically validated for canine sCysC by determining imprecision and linearity. In a longitudinal 6-month study, renal function of 14 DM dogs was assessed, using serum creatinine, GFR, urinary protein-to-creatinine (UPC) ratio, urinary markers, systolic blood pressure (SBP), and sCysC, and compared to 17 healthy dogs at baseline. Furthermore, sCysC was measured at initial presentation and during a 12-month follow-up in 22 HAC dogs. RESULTS: The sCysC intra- and inter-assay variation coefficients were < 8% and highly linear (r = .997). About 33% and 67% of DM dogs had persistent proteinuria and systemic hypertension, respectively, but there were no significant differences in GFR, UPC, and urinary markers over time, and compared with healthy dogs at initial presentation. Serum CysC decreased significantly (P < .05) over time within the DM group. It did not change significantly over time within the HAC group. CONCLUSIONS: A PENIA measured sCysC linearly and precisely. There were no clinically relevant renal alterations over time in dogs with DM, although persistent proteinuria was observed. In dogs with HAC, sCysC measurement was not useful, although significant GFR changes occurred over time.


Adrenocortical Hyperfunction/veterinary , Cystatin C/blood , Diabetes Mellitus/veterinary , Kidney/metabolism , Adrenocortical Hyperfunction/blood , Animals , Diabetes Mellitus/blood , Dogs , Follow-Up Studies
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