Myotonia Congenita in Australian Merino Sheep with a Missense Variant in .

Myotonia congenita is a hereditary, non-dystrophic skeletal muscle disorder associated with muscle stiffness due to delayed muscle relaxation after contraction. We review myotonia congenita in domesticated animals and humans and investigated suspected myotonia congenita in a flock of Merino sheep in Australia. In 2020, a property in New South Wales reported a four-year history of lambs that would fall on disturbance before rapidly recovering, with 13 affected sheep identified in 2020.

De-novo and genome-wide meta-analyses identify a risk haplotype for congenital sensorineural deafness in Dalmatian dogs.

Congenital sensorineural deafness (CSD) has been reported to affect up to 30% of Dalmatian dogs world-wide and while unilaterally deaf dogs can live a close to normal life, dogs suffering bilateral deafness are frequently euthanized. Extreme-white coat patterning as encoded by the gene Melanocyte Inducing Transcription Factor (MITF) has long been postulated as the major risk factor for CSD in the Dalmatian breed. While attempts to identify causative risk variants associated with CSD have been numerous, no genome-wide association study has positively identified MITF as a risk locus for either bilateral or unilateral deafness in the Dalmatian breed to date.

Autologous skin-derived neural precursor cell therapy reverses canine Alzheimer dementia-like syndrome in a proof of concept veterinary trial.

Background: Older companion dogs naturally develop a dementia-like syndrome with biological, clinical and therapeutic similarities to Alzheimer disease (AD). Given there has been no new safe, clinically effective and widely accessible treatment for AD for almost 20 years, an all-new cell therapeutic approach was trialled in canine veterinary patients, and further modelled in aged rats for more detailed neurobiological analysis.

Methods: A Phase 1/2A veterinary trial was conducted in N = 6 older companion dogs with definitive diagnosis of Canine Cognitive Dysfunction (CCD).

[Evaluation of HIV epidemic in Chile. A statement of the Chilean Academy of Medicine].

The Chilean Academy of Medicine convened a commission to evaluate the status of HIV epidemic and the national response to it, regarding its achievements, gaps and challenges, aiming to recommend actions to optimize assessment quality and national response. This publication summarizes the agreed upon opinion of its members. The epidemic is overwhelmingly sexually transmitted, predominant in homo/bisexual men.

Incidence, cause, outcome and possible risk factors associated with facial nerve paralysis in dogs in a Sydney population (2001-2016): a retrospective study.

Objective: This study aims to assess the incidence and causes of facial nerve paralysis (FNP) in dogs in the Sydney region. Its outcome and possible risk factors are investigated to prognosticate and aid design of diagnostic and treatment plans.

Design: Retrospective case study.

Congenital block vertebrae and intervertebral disc protrusion in a young cat.

Case Summary: A 6-month-old domestic shorthair cat was evaluated for proprioceptive ataxia of the pelvic limbs. Over 2 months, the cat became poorly ambulatory, paraparetic with proprioceptive ataxia and developed a firm, distended bladder with intermittent overflow urinary incontinence. Block vertebrae (T1-3, T4-5 and T10-11) and lordosis were identified on radiographs of the vertebral column.

Hypoventilation, cardiac dysrhythmia, and cardiac arrest following acute Brunfelsia species (Yesterday, today, tomorrow) intoxication in a dog.

Background: Intoxication following ingestion of the popular garden shrub 'Yesterday, today, tomorrow' (Brunfelsia sp.) is known to result in gastrointestinal and central nervous system clinical signs in dogs.

Case Report: A 2-year-old dog developed acute-onset vomiting, profuse diarrhoea and ptyalism after unsupervised access to an enclosed backyard that contained a Brunfelsia sp.

Consequences and Management of Canine Brachycephaly in Veterinary Practice: Perspectives from Australian Veterinarians and Veterinary Specialists.

This article, written by veterinarians whose caseloads include brachycephalic dogs, argues that there is now widespread evidence documenting a link between extreme brachycephalic phenotypes and chronic disease, which compromises canine welfare. This paper is divided into nine sections exploring the breadth of the impact of brachycephaly on the incidence of disease, as indicated by pet insurance claims data from an Australian pet insurance provider, the stabilization of respiratory distress associated with brachycephalic obstructive airway syndrome (BOAS), challenges associated with sedation and the anaesthesia of patients with BOAS; effects of brachycephaly on the brain and associated neurological conditions, dermatological conditions associated with brachycephalic breeds, and other conditions, including ophthalmic and orthopedic conditions, and behavioural consequences of brachycephaly. In the light of this information, we discuss the ethical challenges that are associated with brachycephalic breeds, and the role of the veterinarian.

Exercise-induced hyperthermia syndrome (canine stress syndrome) in four related male English springer spaniels.

Objective: This retrospective study describes the signalment, clinical presentation, diagnostic findings, and mode of inheritance in four young male English springer spaniel dogs with presumptive canine stress syndrome.

Materials And Methods: Appropriate cases were located through medical searches of medical records of two large private referral centers. Inclusion criteria comprised of English springer spaniel dogs with tachypnea and hyperthermia that subsequently developed weakness or collapse, with or without signs of hemorrhage, soon after a period of mild-to-moderate exercise.

Investigation of the Role of Campylobacter Infection in Suspected Acute Polyradiculoneuritis in Dogs.

Background: Acute polyradiculoneuritis (APN) is an immune-mediated peripheral nerve disorder in dogs that shares many similarities with Guillain-Barré syndrome (GBS) in humans, in which the bacterial pathogen Campylobacter spp. now is considered to be a major triggering agent. Little information is available concerning the relationship between APN and Campylobacter spp.

Congenital vestibular disease in captive Sumatran tigers (Panthera tigris ssp. sumatrae) in Australasia.

The Sumatran tiger (Panthera tigris ssp. sumatrae) is a critically endangered species in the wild. To ensure that demographic and genetic integrity are maintained in the longer term, those Sumatran tigers held in captivity are managed as a global population under a World Association of Zoos and Aquariums Global Species Management Plan (GSMP).

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.

Background: Congenital and inherited myopathies in dogs are faithful models of human muscle diseases and are being recognized with increasing frequency. In fact, canine models of dystrophin deficient muscular dystrophy and X-linked myotubular myopathy are of tremendous value in the translation of new and promising therapies for the treatment of these diseases. We have recently identified a family of Australian Rottweilers in which male puppies were clinically affected with severe muscle weakness and atrophy that resulted in early euthanasia or death.

Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs.

Chiari-like malformation (CM) is a developmental abnormality of the craniocervical junction that is common in the Griffon Bruxellois (GB) breed with an estimated prevalence of 65%. This disease is characterized by overcrowding of the neural parenchyma at the craniocervical junction and disturbance of cerebrospinal fluid (CSF) flow. The most common clinical sign is pain either as a direct consequence of CM or neuropathic pain as a consequence of secondary syringomyelia.

Empirical assessment of competitive hybridization and noise in ultra high density canine tiling arrays.

Background: In addition to probe sequence characteristics, noise in hybridization array data is thought to be influenced by competitive hybridization between probes tiled at high densities. Empirical evaluation of competitive hybridization and an estimation of what other non-sequence related features might affect noisy data is currently lacking.

Results: A high density array was designed to a 1.

Massive osteolysis in a dog resembling Gorham's disease in humans.

An eight-month-old mixed-breed dog was presented with a history of sudden onset pelvic limb lameness. Radiographic and computed tomographic examinations demonstrated an osteolytic process involving the lumbar spine and pelvis. A comprehensive work-up including serial radiographic skeletal survey, biopsy, routine laboratory investigation and evaluation of parathyroid hormone (PTH) and 25-hydroxy-vitamin D levels failed to reveal any underlying cause for the osteolysis.

Myelitis due to reactivated spinal toxoplasmosis in a cat.

The diagnosis, management, and subsequent post-mortem confirmation of a case of suspected reactivated spinal toxoplasmosis in a 10-year-old female neutered Cornish Rex are described. While an ante-mortem diagnosis of toxoplasmosis was considered possible based on the neuroanatomical diagnosis of central nervous system (CNS) disease primarily involving spinal cord segment C6-T2 and the progressive elimination of other potential causes, Toxoplasma gondii antibody titres were consistent with previous exposure rather than active infection. A poor response to appropriate therapy did not support a diagnosis of toxoplasmosis.

Ataxia and paralysis in cats in Australia associated with exposure to an imported gamma-irradiated commercial dry pet food.

Between June 2008 and March 2009, 87 cats in Australia developed symmetrical hindlimb ataxia, paraparesis, tetraparesis, paraplegia or tetraplegia in association with eating an imported, irradiated dry pet food. This communication reports the clinical signs and outcomes of those cats.

Brunfelsia spp (yesterday, today, tomorrow) toxicity in four dogs.

Four dogs were treated for acute toxicity following ingestion of the popular garden shrub 'Yesterday, today, tomorrow' (Brunfelsia spp). Clinical signs included vomiting, diarrhoea, muscle tremors, anxiousness, opisthotonus and seizures. All dogs recovered following treatment with any or all of general anaesthetic, gastric lavage, enema, diazepam, phenobarbitone or propofol sedation.

Thiamine deficiency in dogs due to the feeding of sulphite preserved meat.

A 6-year-old dog, a 4-year-old dog and three 7-week-old puppies were diagnosed with thiamine deficiency caused by feeding sulphite treated meat. The 6-year-old dog presented with a history of inappetence, weight loss and vomiting that rapidly progressed to signs of multifocal intracranial disease including mental dullness, paresis, seizures, spontaneous nystagmus and strabismus. Thiamine pyrophosphate effect was elevated at 58% and magnetic resonance imaging revealed bilaterally symmetrical hyperintensity of the caudate nucleus and rostral colliculi.

Inflammatory cerebrospinal fluid analysis in cats: clinical diagnosis and outcome.

The medical records of 62 cats with clinical signs of central nervous system disease and accompanying inflammatory cerebrospinal fluid (CSF) analysis were examined retrospectively to determine if signalment, clinical signs, CSF analysis and ancillary testing could accurately predict the type of central nervous system disease that was present. An inflammatory CSF was defined as one in which a total nucleated cell count was greater than 5 cells/microl or one in which the total nucleated cell count was normal but the nucleated cell differential count was abnormal. Sex, degree of CSF inflammation, neuroanatomical location and systemic signs provided little contributory information to the final diagnosis.

Chiari 1/syringomyelia complex in a King Charles Spaniel.

A 9-year-old King Charles Spaniel presented with a history of progressive forelimb weakness and paroxysmal involuntary flank scratching over a 2-year period. Neurological examination suggested a myelopathy of C1 to C4 spinal cord segments. Advanced imaging studies revealed hydrocephalus, caudal herniation of part of the caudal lobe of the cerebellum through the foramen magnum and marked syrinx formation to the level of the caudal thoracic spine, resembling Arnold-Chiari malformation with secondary hydromyelia in humans.

Neuromuscular function of the latissimus dorsi muscle in goats after dynamic cardiomyoplasty.

Skeletal muscle deterioration is emerging as a limitation to long-term cardiac assist by dynamic cardiomyoplasty. Chronic electrical stimulation of in situ skeletal muscle showed that ischemia, decreased muscle preload, muscle overuse, and chronic electrical stimulation are factors for muscle deterioration. Transposition around the heart has been associated with signs of muscle denervation after chronic electrical stimulation.