Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.

BACKGROUND: A cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria, and markedly elevated serum creatine kinase activities were identified. METHODS: Muscle biopsy histopathology, immunofluorescence microscopy, and western blotting were combined to identify the specific pathologic phenotype of the myopathy, and whole genome SNP array genotype data and whole genome sequencing were combined to determine its genetic basis. RESULTS: Muscle biopsies were dystrophic. Sarcoglycanopathy, a form of limb-girdle muscular dystrophy, was suspected based on immunostaining and western blotting, where α, ß, and γ-sarcoglycan were all absent or reduced. Genetic mapping and whole genome sequencing identified a premature stop codon mutation in the sarcoglycan A subunit gene (SGCA). Affected dachshunds were confirmed on several continents. CONCLUSIONS: This first SGCA mutation found in dogs adds to the literature of genetic bases of canine muscular dystrophies and their usefulness as comparative models of human disease.

Hyperinsulinaemic, hypoglycaemic syndrome due to acquired nesidioblastosis in a cat.

Case summary A 6-year-old, neutered female British Shorthair cat presented with acute-onset weakness and mental dullness. Initially the cat was mildly hyperglycaemic (9.9 mmol/l; reference interval [RI] 3.3-6.7 mmol/l). Over the following 12 h the cat developed central blindness, tremors, intermittent seizures and opisthotonus. Repeat blood sampling revealed a marked hypoglycaemia (0.8 mmol/l). Insulin level (performed on a serum sample collected while the cat was hypoglycaemic) was inappropriately elevated (1575 mIU/l; RI 10-80 mIU/l). An abdominal ultrasound was unremarkable. An exploratory laparotomy revealed a firm and erythematous left limb of the pancreas. Following surgical resection of the left limb of the pancreas, the cat returned to a euglycaemic state after a brief rebound hyperglycaemia. Histopathology revealed pancreatic fibrosis with marked multifocal micronodular hyperplasia of exocrine and endocrine cells. Synaptophysin immunohistochemistry confirmed nodular ß-cell hyperplasia. Relevance and novel information Nesidioblastosis describes a syndrome of acquired hyperinsulinaemia and associated hypoglycaemia secondary to focal or diffuse (non-neoplastic) ß-cell hyperplasia within the pancreas. Acquired nesidioblastosis has been reported in humans, where ß-cell dysregulation is thought to occur in response to pancreatic injury. This is the first reported case of clinically significant hypoglycaemia due to acquired nesidioblastosis in an adult domestic cat. While this condition is rare, nesidioblastosis is being increasingly recognised in humans and it is an important differential diagnosis to consider when investigating hypoglycaemia as it cannot be distinguished from insulinoma without histopathological evaluation. While recurrence has been occasionally reported in humans, the prognosis is considered good.

Canine pyoderma gangrenosum: a case series of two dogs.

BACKGROUND: Pyoderma gangrenosum (PG) is a rare disease, which, to the best of the authors' knowledge, has been the subject of only one case report in the peer-reviewed veterinary literature. HYPOTHESIS/OBJECTIVES: To describe the history, clinical signs, diagnostic findings and treatment outcome in two cases of canine PG. ANIMALS: Two client-owned dogs presented to a private veterinary referral practice between 2008 and 2010 who received a diagnosis of PG by specialist veterinary dermatologists. METHODS: Medical records were analysed to retrieve relevant information. RESULTS: Both dogs were treated with prednisolone; this was combined with ciclosporin in case 1 and azathioprine in case 2. Case 2 had a more complete response of lesions to treatment and a longer survival time after diagnosis (763 days) than case 1 (81 days). CONCLUSIONS AND CLINICAL IMPORTANCE: Pyoderma gangrenosum is a rare disease distinguished by rapid progression of painful, necrolytic, cutaneous ulcers with irregular, violaceous undermined borders. Azathioprine with glucocorticoids may lead to a better outcome than ciclosporin and glucocorticoids (currently the first-line treatment in humans and the only reported treatment in dogs).

Tumor thrombus formation in two dogs with insulinomas.

CASE DESCRIPTION: A 9-year-old sexually intact male Staffordshire Bull Terrier and a 9-year-old neutered male Boxer were evaluated for intermittent neurologic signs including muscle tremors, ataxia, episodic collapse, disorientation, and seizures. CLINICAL FINDINGS: Both dogs had low blood glucose and high serum insulin concentrations. Results of abdominal ultrasonography were unremarkable for both dogs. Exploratory laparotomy revealed a mass that extended from the body of the pancreas into the pancreaticoduodenal vein in each dog. TREATMENT AND OUTCOME: Marginal resection of pancreatic masses was performed, and tumor thrombi were removed via venotomy in both dogs. Histologic evaluation indicated the masses were pancreatic islet cell tumors with tumor thrombi. Clinical signs resolved following surgical resection of tumors and tumor thrombi, and the dogs were euglycemic during the follow-up period (17 and 45 months after surgery). CLINICAL RELEVANCE: Although gross tumor thrombus formation has been identified in humans with insulinomas, tumor thrombi have not been previously reported for dogs with insulinomas. Surgical removal of tumor thrombi via venotomy seemed to be well tolerated by the dogs. Tumor thrombus formation did not seem to adversely affect prognosis for the 2 dogs of this report.

Effect of pimobendan on the clinical outcome and survival of cats with non-taurine responsive dilated cardiomyopathy.

This retrospective study was designed to assess the effect of pimobendan on the median survival time (MST) of cats with non-taurine responsive dilated cardiomyopathy (DCM). Thirty-two client-owned cats with a left ventricular internal dimension at end systole (LVIDs) >14 mm, a fractional shortening (FS) <28% and a lack of response to taurine therapy were included over a 9-year period (2001-2010). These cats were divided into pimobendan (n=16) and non-pimobendan (n=16) treatment groups. All cats received standard treatment with frusemide, taurine and benazepril or enalapril. Nine cats in the non-pimobendan group also received digoxin. The MST of the pimobendan group (49 days; range 1 to >502 days) was four times that of the non-pimobendan group (12 days; 1 to 244 days). The difference in survival between the two groups was statistically significant (P = 0.048). Hypothermia and FS <20% were associated with a poor prognosis. No adverse effects to pimobendan were noted.

Lung lobe torsion in association with a chronic diaphragmatic hernia and haemorrhagic pleural effusion in a cat.

UNLABELLED: CLINICAL SUMMARY: This report describes torsion of the right cranial lung lobe in a cat with haemorrhagic pleural effusion and a chronic diaphragmatic hernia. Surgical treatment comprising lung lobectomy without de-rotation, and repair of the diaphragmatic defect, led to an uneventful recovery. PRACTICAL RELEVANCE: Lung lobe torsion is a rare condition in cats. While spontaneous lung lobe torsions may occur, a frequent association with underlying thoracic disease has been recognised in cats. However, neither haemorrhagic pleural effusion nor diaphragmatic hernia have been previously described in cats with lung lobe torsions, although they have been documented in dogs and humans. In a cat with suspected lung lobe torsion, a thorough search for an underlying disease should be undertaken.