Dystrophin () Missense Variant in Cats with Becker-Type Muscular Dystrophy.

Muscular dystrophy due to dystrophin deficiency in humans is phenotypically divided into a severe Duchenne and milder Becker type. Dystrophin deficiency has also been described in a few animal species, and few gene variants have been identified in animals. Here, we characterize the clinical, histopathological, and molecular genetic aspects of a family of Maine Coon crossbred cats with clinically mild and slowly progressive muscular dystrophy.

COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy.

Background: Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich congenital muscular dystrophy. In this study, we describe analoguos clinical signs and histopathological alterations in Landseer dogs.

A SINE Insertion in in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).

Spongy degeneration with cerebellar ataxia (SDCA) is a genetically heterogeneous neurodegenerative disorder with autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed. Using a combined linkage and homozygosity mapping approach we identified an ∼10.6 Mb critical interval on chromosome 5 in a Malinois family with four puppies affected by cerebellar dysfunction.

A Missense Variant in in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).

Spongy degeneration with cerebellar ataxia (SDCA) is a severe neurodegenerative disease with monogenic autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed. We performed a genetic investigation in six families and seven isolated cases of Malinois dogs with signs of cerebellar dysfunction. Linkage analysis revealed an unexpected genetic heterogeneity within the studied cases.

A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy.

A novel canine muscular dystrophy in Landseer dogs was observed. We had access to five affected dogs from two litters. The clinical signs started at a few weeks of age, and the severe progressive muscle weakness led to euthanasia between 5 and 15 months of age.

Medial humeral epicondylitis in clinically affected cats.

Objective: To describe the clinical signs and histologic changes in cats clinically affected with medial humeral epicondylitis (MHE) and evaluate long-term outcome after either conservative or surgical treatment.

Study Design: Prospective cohort study.

Animals: Client-owned cats (n = 17) with MHE.

An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs.

An inherited polyneuropathy (PN) observed in Leonberger dogs has clinical similarities to a genetically heterogeneous group of peripheral neuropathies termed Charcot-Marie-Tooth (CMT) disease in humans. The Leonberger disorder is a severe, juvenile-onset, chronic, progressive, and mixed PN, characterized by exercise intolerance, gait abnormalities and muscle atrophy of the pelvic limbs, as well as inspiratory stridor and dyspnea. We mapped a PN locus in Leonbergers to a 250 kb region on canine chromosome 16 (Praw = 1.

Transient neuromyopathy after bromide intoxication in a dog with idiopathic epilepsy.

A seven-year old Australian Shepherd, suffering from idiopathic epilepsy under treatment with phenobarbitone and potassium bromide, was presented with generalised lower motor neuron signs. Electrophysiology and muscle-nerve biopsies revealed a neuromyopathy.The serum bromide concentration was increased more than two-fold above the upper reference value.

Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.

Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ~70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families. Analysis of animal models with altered expression of these genes revealed common defects in all forms of CNM, paving the way for unified pathogenic and therapeutic mechanisms.

[Influence of physiological disturbances on treatment success of dietary therapy in dogs with chronic enteropathies].

The aim of this retrospective study in 40 dogs with chronic inflammatory enteropathies was to investigate a possible influence of immunologic and metabolic deficiencies on the success of dietary treatments. At the time of initial presentation, routine clinical and laboratory methods were used to evaluate various metabolic (i.e.

Myopathy and alterations in serum 3-methylhistidine in dogs with liver disease.

Liver disease can influence the metabolism of various other organs. Regarding the influence of liver diseases on muscles, only a few studies done on people exist. The goal of our study was to investigate the influence of liver diseases on muscles in dogs.

[Assessment of disease severity and outcome of dietary, antibiotic, and immunosuppressive interventions by use of the canine IBD activity index in 21 dogs with chronic inflammatory bowel disease].

Recently, the canine IBD activity index (CIBDAI) was developed for evaluation of the severity of illness, therapeutic strategies, and efficacy of therapy. The aim of the present study was to assess the severity of illness and the therapeutic strategy in dogs with IBD by the use of CIBDAI, serum albumin concentration, and histologic score (HPEG). Furthermore the use of CIBDAI and the efficacy of therapy in a prospective study during a 3 month treatment period were evaluated.

Locoregional opening of the rodent blood-brain barrier for paclitaxel using Nd:YAG laser-induced thermo therapy: a new concept of adjuvant glioma therapy?

Background And Objectives: Nd:YAG laser-induced thermo therapy (LITT) of rat brains is associated with blood-brain barrier (BBB) permeability changes. We address the question of whether LITT-induced locoregional disruption of the BBB could possibly allow a locoregional passage of chemotherapeutic agents into brain tissue to treat malignant glioma.

Study Design/materials And Methods: CD Fischer rats were subject to LITT of the left forebrain.

Precursors of Borna disease virus-specific T cells in secondary lymphatic tissue of experimentally infected rats.

Borna disease in rats represents an experimental model to study the immunopathological role of T cells in central nervous system disease. Adoptive transfer experiments were performed to investigate homing properties of T cells that infiltrate the brains of infected animals. Lymphocytes isolated from the brains of diseased rats were labelled with 5,6-carboxyfluorescein diacetate succinimidyl ester (CFSE) and transferred into immunosuppressed infected recipients.

The immunopathogenesis of Borna disease virus infection.

Borna disease virus (BDV) infection represents an excellent model system to study immunopathological mechanisms based on a T cell-mediated immune reaction in the central nervous system. The single-stranded RNA Borna disease virus, a member of Bornaviridae in the order of Mononegavirale, lacks cytopathogenicity both in vitro and in vivo. After experimental infection BDV causes a persistent infection of the central nervous system and induces Borna disease, an immune-mediated encephalomyelitis.