Frameshift Variant in AMPD2 in Cirneco dell'Etna Dogs with Retinopathy and Tremors.

While the manifestations of many inherited retinal disorders are limited to loss of vision, others are part of a syndrome that affects multiple tissues, particularly the nervous system. Most syndromic retinal disorders are thought to be recessively inherited. Two dogs out of a litter of Cirneco dell' Etna dogs, both males, showed signs of retinal degeneration, along with tremors and signs described as either atypical seizures or paroxysmal dyskinesias, while the other two male littermates were normal. We named this oculo-neurological syndrome CONS (Cirneco oculo-neurological syndrome), and undertook homozygosity mapping and whole-genome sequencing to determine its potential genetic etiology. Notably, we detected a 1-bp deletion in chromosome 6 that was predicted to cause a frameshift and premature stop codon within the canine AMPD2 gene, which encodes adenosine monophosphate deaminase, an enzyme that converts adenosine 5'-monophosphate (AMP) to inosine 5'-monophosphate (IMP). Genotyping of the available Cirneco population suggested perfect segregation between cases and controls for the variant. Moreover, this variant was absent in canine genomic databases comprised of thousands of unaffected dogs. The AMPD2 genetic variant we identified in dogs presents with retinal manifestations, adding to the spectrum of neurological manifestations associated with AMPD2 variants in humans.

Treatment of immune-mediated keratitis (IMMK) in dogs with immunosuppressants observed with spectral domain optical coherence tomography (SD-OCT).

Two dogs presented with bilateral pattern-forming corneal opacity. Treatment with topical immunosuppressants was initiated after a complete ophthalmic examination. The response to treatment was assessed by analyzing serial images using slit-lamp biomicroscopy and spectral domain optical coherence tomography (SD-OCT). Both dogs responded to topical immunosuppressants; however, the lesions recurred once the treatment was abated or withdrawn. The most effective immunosuppressant in both dogs was 0.03% tacrolimus ointment. Early and continuous treatment with topical immunosuppressants may be necessary to improve corneal clarity and prevent scarring. SD-OCT could provide useful structural information regarding presumed immune-mediated keratitis and aid in monitoring treatment response.

Diagnostic assessment of two-dimensional shear wave elastography in relation to dimethyl arginine levels in dogs with chronic kidney disease.

BACKGROUND: In veterinary medicine, previous studies regarding the diagnostic performance of shear wave elastography (SWE) in chronic kidney disease (CKD) are not consistent with each other. Moreover, there has been no study evaluating the relationship between symmetric dimethyl arginine (SDMA) concentration and renal shear wave velocity (SWV) using two-dimensional SWE (2D SWE) in dogs with CKD. OBJECTIVES: This study aimed to evaluate the diagnostic capability of 2D SWE in dogs with CKD and to assess the relationship between renal SWV and SDMA concentration. METHODS: Dogs with healthy kidneys and dogs with CKD underwent 2D SWE and SDMA assay. Renal stiffness was estimated as renal SWV in m/s. RESULTS: SDMA concentration had a weak positive correlation with the left (r = 0.338, p = 0.022) and right renal SWV (r = 0.337, p = 0.044). Renal SWV was not significantly different between healthy kidney and CKD groups in the left (p = 0.085) and right (p = 0.171) kidneys. CONCLUSIONS: 2D SWE may could not distinguish between dogs with healthy kidney and dogs with early stage of CKD, but it would be useful for assessing the serial change of renal function in dogs.

Review of outcomes of using lower ethanol concentration (83%) in percutaneous ultrasound-guided renal cyst sclerotherapy in dogs.

BACKGROUND: Percutaneous renal cyst sclerotherapy (PRCS) as a treatment for renal cysts is usually performed with a high concentration of ethanol (≥ 90%). This study reviewed cases in which a lower concentration of ethanol (83%) was used for the procedure in dogs. METHODS: Records of cases of renal cysts treated by sclerotherapy using 83% ethanol in dogs were reviewed. Outcomes of the treatment were evaluated by comparing volumes of renal cysts before the procedure and the volumes after treatment, using ultrasound images with the volume reduction rates classified as follows: < 50% of initial volume (failed); ≥ 50% but < 80% of initial volume (partial success); ≥ 80% but < 95% of initial volume (great success); ≥ 95% of initial volume (complete success). RESULTS: Out of nine dog kidneys, renal cysts sclerotherapy with 83% ethanol achieved partial success in one kidney, great success in four, and complete success in the other four. No side effect was observed. The mean of the volume-reduction rates was 90.00 ± 11.00 while the minimum and maximum reduction rates were 65% and 100%, respectively. CONCLUSIONS: The lower ethanol concentration (83%) is good for disinfecting kidneys in PRCS.

Computed tomographic features of focal lipogranulomatous lymphangitis for differentiating from malignant intestinal lesions in a dog.

An eight-year-old Maltese dog presented with diarrhea and anorexia. Ultrasonography revealed marked focal wall thickening with loss of layering in the distal ileum. Contrast-enhanced computed tomography (CT) revealed a preserved wall layer with hypoattenuating middle wall thickening. In some segments of the lesion, small nodules protruding toward the mesentery from the outer layer were observed. Histopathology revealed focal lipogranulomatous lymphangitis (FLL) with lymphangiectasia. This is the first report to describe the CT features of FLL in a dog. CT features of preserved wall layers with hypoattenuating middle wall thickening and small nodules can assist in diagnosing FLL in dogs.

Mitochondrial DNA alterations in the domestic dog (Canis lupus familiaris) and their association with development of diseases: A review.

Currently, the issue of the aetiology of mitochondrial diseases resulting from mitochondrial DNA (mtDNA) defects is underestimated. Genetic research is mostly focused on alterations in the nuclear genome (nDNA), and its impact on disease development as well as further health consequences without considering mtDNA abnormalities. However, in the case of energy-dependent diseases, it is important to understand the bioenergetic pathophysiology and its relation with mtDNA changes. In the current animal research, there is limited data about mtDNA defects and their association with the development of bioenergetic diseases in the domestic dog (Canis lupus familiaris) in contrast to human medicine, where mitochondrial genetics research has recently increased. Molecular findings about mtDNA indicate that improper functioning of mitochondria resulting from genetic defects of mtDNA has a severe impact on cells and tissues, especially those that are heavily dependent on oxidative metabolism such as the brain, skeletal and cardiac muscles and, consequently, the whole organism. The aim of this paper is to highlight the role of defects of mitochondria and mtDNA on the development and course of different diseases in the domestic dog. The field of canine mitochondrial genetics and genomics is definitely inexhaustible and it is worth drawing attention to the importance and consequences of the mitochondrial genome alterations. This review collects scientific data on mitochondrial DNA with special regard to the structure, features of canine mtDNA, and abnormalities in the mitochondrial genome and their association with the course and development of diseases, including mitochondrial myopathies, encephalopathies, and tumours.

Comparative performance of reference laboratory tests and in-clinic tests for Giardia in canine feces.

BACKGROUND: We examined the performance of four in-clinic Giardia diagnostic tests by comparing results to three laboratory methods for detection of Giardia. A set of 177 fecal samples originally submitted to a commercial laboratory by veterinarians for routine ova and parasite (O&P) testing was used. Specimens were examined by direct immunofluorescence assay (DFA) for presence of Giardia cysts which served as the gold standard. Fecal samples were tested using a Giardia-specific cyst wall antigen microtiter plate format enzyme-linked immunosorbent assay (ELISA) and each of the in-clinic assays adhering to the package insert for each kit. RESULTS: Evaluated were four in-clinic antigen test kits: VetScan® Canine Giardia Rapid Test (Abaxis), Anigen® Rapid CPV-CCV-Giardia Antigen Test (BioNote), SNAP® Giardia Test (IDEXX) and Witness® Giardia Test (Zoetis). In the comparison of the in-clinic tests to the DFA standard test sensitivity ranged between 70.0-87.1%, and specificity ranged between 71.1-93.4%. CONCLUSION: Of the tests evaluated here, the SNAP test had the highest sensitivity and specificity. The SNAP test had the highest percent positive and percent negative agreement when compared to the microtiter plate format ELISA and the O&P assay.

Aspectos anatomopatológicos em cães naturalmente infectados por Hepatozoon canis / Anatomopathological findings in dogs naturally infected by Hepatozoon canis

A hepatozoonose canina é causada principalmente pelos protozoários Hepatozoon canis e H. americanum, transmitida por ingestão de carrapatos parasitados. Os sinais clínicos podem ser inespecíficos ou de difícil reconhecimento, pois geralmente ocorre associada a outras doenças. No Brasil, o parasito, e a doença, já foram identificados em vários Estados, no entanto pouco se sabe sobre as alterações clínicas e anátomo-patológicas decorrentes da infecção. O presente trabalho relata cinco casos de infecções naturais por Hepatozoon canis em cães do Estado de Minas Gerais e descreve pela primeira vez no Brasil os achados de necropsias e histopatológicos relacionados à infecção. Merontes de Hepatozoon sp., submetidos a avaliação morfométrica, foram observados em cortes histológicos de fígado, baço, medula óssea e rim.(AU)

Canine hepatozoonosis is mainly caused by protozoa Hepatozoon canis and H. americanum that are transmitted by ingestion of infected ticks. Clinical signs may be unspecific or difficult to identify, because usually hepatozoonosis occurs associated with other disease. In Brazil, the parasite and the disease, have been identified in several states, however little is known about the clinical and anatomopathological lesions resulting from the infection. This paper reports five cases of natural infection by Hepatozoon canis in dogs from Minas Gerais State and describes for the first time in Brazil the necropsy and histopathological findings related to infection. Meronts of Hepatozoon sp., submitted to morphometric evaluation, were observed in histological sections of liver, spleen, bone marrow and kidney.(AU)