Three‐related cats were evaluated for a history of short‐strided gait and temporary recumbency after startle. Neurological examination, electromyography (EMG), muscle biopsies, and a chloride ...voltage‐gated channel 1 (CLCN1) molecular study were performed. Clinically, all 3 cats presented myotonia with warm‐up phenomenon and myotonic discharges during EMG examination. Muscle biopsies showed normal muscle architecture and variation in the diameter of myofiber size with the presence of numerous hypertrophic fibers. The molecular study revealed a missense variant (c.991G>C, p.Ala331Pro) in exon 9 of the CLCN1 gene, responsible for the first chloride channel extracellular loop. This mutation was screened in 104 control phenotypically normal unrelated cats, and all were wildtype. The alanine at this position is conserved in ClC‐1 (chloride channel protein 1) in different species, and 2 mutations at this amino acid position are associated with human myotonia. This is the third CLCN1 mutation described in the literature associated with hereditary myotonia in cats and the first in domestic animals located in an extracellular muscle ClC‐1 loop.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Allogeneic mesenchymal stem cells (MSC) are widely used in clinical routine due to the shorter expansion time and reliability of its quality. However, some recipients can produce alloantibodies that ...recognize MSCs and activate the immune system, resulting in cell death. Although antibody production was already described after MSC injection, no previous studies described the immune response after intra-articular MSC injection in acute synovitis. This study aimed to evaluate the influence of inflammation on immune response after single and repeated intra-articular injections of synovial membrane MSC (SMMSC). Horses were divided in three groups: control group (AUTO) received autologous synovial membrane MSCs; whereas group two (ALLO) received allogeneic SMMSCs and group three (ALLO LPS) was submitted to acute experimental synovitis 8 h before SMMSCs injection. The procedure was repeated for all groups for 28 days. Physical and lameness evaluations and synovial fluid analysis were performed. Sera from all animals were obtained before and every 7 days after each injection up to 4 weeks, to perform microcytotoxicity assays incubating donor SMMSCs with recipients' sera. The first injection caused a mild and transient synovitis in all groups, becoming more evident and longer in ALLO and ALLO LPS groups after the second injection. Microcytotoxicity assays revealed significant antibody production as soon as 7 days after SMMSC injection in ALLO and ALLO LPS groups, and cytotoxicity scores of both groups showed no differences at any time point, being equally different from AUTO group. Although inflammation is capable of inducing MHC expression in MSCs, which enhances immune recognition, cytotoxicity scores were equally high in ALLO and ALLO LPS groups, making it difficult to determine the potentiation effect of inflammation on antibody production. Our findings suggest that inflammation does not display a pivotal role in immune recognition on first allogeneic MSC injection. In a translational way, since specific antibodies were produced against MSCs, patients that need more than one MSC injection may benefit from a first allogeneic injection followed by subsequent autologous injections.
O colapso induzido pelo exercício (EIC) é uma enfermidade hereditária caracterizada por fraqueza muscular, dificuldade de locomoção e colapso após atividade física intensa. Esta enfermidade ...autossômica recessiva afeta principalmente cães jovens da raça Labrador Retriever e decorre da mutação c.767G>T no gene codificador da proteína dinamina 1 (DNM1). O objetivo deste trabalho é relatar o primeiro caso de EIC em Labrador Retriever no Brasil. O teste molecular para detectar a mutação responsável pela EIC confirmou o diagnóstico clínico em um Labrador Retriever com histórico de fraqueza muscular e colapso após exercício. Uma vez diagnosticada no Brasil, ressalta-se a importância de inserir a EIC entre os diagnósticos diferenciais das enfermidades neuromusculares em cães da raça Labrador Retriever e utilizar o diagnóstico molecular para orientar os acasalamentos.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
This study aimed to evaluate the fecal shedding of C. difficile in calves on farms in Sao Paulo State, Brazil.
Fecal samples (n = 300) were collected from diarrheic (n = 78) and nondiarrheic ...(n = 222) calves less than 60 days of age from 20 farms. Fecal samples were inoculated into enrichment broth supplemented with taurocholate and cultured under anaerobic conditions. Colonies suspected to be C. difficile were harvested for DNA extraction and then multiplex PCR for the detection of genes encoding toxins A and B and binary toxins. All toxigenic isolates were ribotyped and tested for antimicrobial susceptibility, and five selected strains were subjected to whole-genome sequencing to determine their sequence type.
C. difficile was isolated from 29.3 % (88/300) of the samples. All toxigenic isolates (17/88, 19.3 %) were classified as ribotypes RT046 (13/17–79.47 %, A+B+ CDT−) and RT126 (4/17 = 20.53 %, A+B+ CDT+). The sequenced strains from RT046 were classified as ST35 (Clade 1), while those from RT126 were classified as ST11 (Clade 5). No associations between the epidemiological factors in any of the groups and C. difficile isolation were observed. Most of the toxigenic isolates (16/17 = 94.41 %) were classified as multidrug-resistant. Calves can be an important source of toxigenic C. difficile strains, including multidrug-resistant isolates from ribotypes commonly observed in humans.
•C. difficile was isolated from fecal samples of calves with and without diarrhea.•Toxigenic isolates were classified as RT046 and RT126.•Most of the toxigenic isolates were classified as multidrug resistant.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Chondrodysplastic dwarfism in Miniature horses is an autosomal recessive disorder previously associated with four mutations (D1, D2, D3*, and D4) in the aggrecan (ACAN) gene. The aim of this study ...was to identify additional variants in the candidate ACAN gene associated with chondrodysplastic dwarfism in Miniature horses. Fifteen dwarf Miniature horses were found to possess only one of the dwarfism-causing variants, and two possessed none of the variants. The ACAN exons (EquCab3.0) of seven dwarf Miniature horses were sequenced. A missense SNP in coding exon 11 (g.95271115A > T, c.6465A > T-RefSeq XM_005602799.2), which resulted in the amino acid substitution p.Leu2155Phe (RefSeq XP_005602856.2), was initially associated with the dwarf phenotype. The variant was tested and found present in 14 dwarf foals as well as one parent of each, and both parents of a dwarf possessing two copies. Genetic testing of 347 phenotypically normal Miniature horses demonstrated that none had more than one of the dwarf alleles or c.6465A > T. However, a study of large breeds revealed the presence of c.6465A > T, which was present in homozygosis in two Mangalarga Marchador horses. We suggest that c.6465A > T as a marker of disequilibrium or complex interactions in the Miniature horse genome could contribute to the associated dwarfism.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
•Two groups of clinically healthy horses were subjected to multiple sequential cerebrospinal fluid (CSF) collections.•Five multiple sequential CSF collections were obtained from the atlanto-occipital ...(AO) or C1-C2 space.•Chemical and cytologic characteristics were compared between groups and sampling times.•Consecutive AO or C1-C2 CSF collections did not interfere with CSF analysis results.
Analysis of the cerebrospinal fluid (CSF) is important as a complementary test in horses with neurologic diseases, and sequential analysis may provide information about the treatment response or evolution and quantitative measures of the CSF drug concentration during treatment. The aim of this study was to compare erythrocyte and nucleated cell counts and protein concentration in multiple CSF samples obtained sequentially from two different puncture sites in clinically healthy horses. Eight and 12 horses, with no evidence of neurologic disease, were subjected to CSF collection from the atlanto-occipital (AO) and C1–C2 spaces, respectively. Cytologic and chemical analyses were performed on the CSF obtained at five sampling times (T1, T2, T3, T4, and T5). Repeated measures models were used to compare the mean erythrocyte count, nucleated cell count, and total protein concentration between the AO and C1–C2 groups at each sampling time. C1–C2 CSF had a significantly higher total protein concentration at T1 and T4 than that of AO CSF. All total protein concentration values remained within the reference interval (<90 mg/dL) for all sampling times and groups. No statistical difference was present between results at T2, T3, T4, and T5 and at T1 in both groups for all analyses. In conclusion, five consecutive AO or C1–C2 CSF collections with at least a 7-d interval did not result in alterations in the CSF erythrocyte and nucleated cell counts and total protein concentrations and did not interfere with the CSF analysis results.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Background: Erythema multiforme (EM) is an immune-mediated skin disease which may manifest as cutaneous or mucocutaneous lesions. It is uncommon in horses. EM lesions have a symmetrical bilateral ...distribution; they are usually urticarial, necrotizing, and, less commonly, ulcerative. In equines, the trigger is usually unknown, and cases are often classified as idiopathic. Diagnosis is based on a thorough history and physical and histopathological examination of lesions. According to the clinical presentation and histopathological characteristics of the cutaneous lesions, this case is the first report to describe diagnosis and treatment of a horse with EM in Brazil. Case: A Quarter Horse filly was followed clinically for 12 months after sudden onset of skin lesions at 18 months of age. The initial lesions were non-alopecic papules with a symmetrical bilateral distribution. Six months after onset, the skin lesions maintained the original distribution pattern; however, they had progressed to papules and plaques with varying annular, arciform, serpiginous, targetoid, or alopecic appearance. At 8 months, the same distribution pattern and appearance remained, but the lesions had become more severe and extensive, with involvement of the labial commissures and perineal region, without any erosions/ulcerations, scaling/crusting, pain, or pruritus. At 12 months, new nodular lesions were found on the medial and lateral surfaces of the hind limbs, neck, bilateral trunk, and root of the tail. The lesions were firm, non-pruritic, and non-tender on palpation. Swabs were obtained from the papular lesions. Skin specimens were also obtained with a 6-mm punch and via incisional biopsy and histological sections were made. Bacterial and fungal cultures were negative. Appropriate stains did not identify fungal structures, were negative for acid-fast bacilli, and did not reveal any metachromatic granules in the sampled cell population. The histopathological findings were characteristic of immune-mediated disease, with a vacuolar interface dermatitis affecting the hair follicles more than the epidermis, necrotic keratinocytes, lymphocyte satellitosis, leukocytoclastic mixed vasculitis of the mid-dermis and deep dermis, and variable granulation tissue, consistent with erythema multiforme and leukocytoclastic vasculitis. Immunosuppressive therapy with corticosteroids and oral supplementation with omega-3 and omega-6 fatty acids and vitamin E were prescribed. After institution of therapy, no new lesions developed, the existing lesions remained stable (though permanent), and hair regrew in the previously alopecic areas. All physiological parameters remained normal throughout the follow-up period. Discussion: Erythema multiforme is rarely reported in horses. According to our literature review, this is the first description of EM in horses in Brazil. EM should be included in the differential diagnosis of horses that present with plaques in a diverse, geographic distribution and a negative initial dermatological screening examination. Further clinical investigation is warranted, with special attention to potential antigenic triggers. A thorough drug and dietary history and close attention to comorbidities are essential, as the suppression of potential culprit factors has important prognostic value and contributes to the elucidation of EM triggers.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
O colapso induzido pelo exercício (EIC) é uma enfermidade hereditária caracterizada por fraqueza muscular, dificuldade de locomoção e colapso após atividade física intensa. Esta enfermidade ...autossômica recessiva afeta principalmente cães jovens da raça Labrador Retriever e decorre da mutação c.767G>T no gene codificador da proteína dinamina 1 (DNM1). O objetivo deste trabalho é relatar o primeiro caso de EIC em Labrador Retriever no Brasil. O teste molecular para detectar a mutação responsável pela EIC confirmou o diagnóstico clínico em um Labrador Retriever com histórico de fraqueza muscular e colapso após exercício. Uma vez diagnosticada no Brasil, ressalta-se a importância de inserir a EIC entre os diagnósticos diferenciais das enfermidades neuromusculares em cães da raça Labrador Retriever e utilizar o diagnóstico molecular para orientar os acasalamentos.
The exercise-induced collapse (EIC) is a hereditary disease characterized by muscle weakness, impaired locomotion and collapse after intense exercise. This autossomic recessive disorder affects mainly Labrador Retriever presenting the mutation c.767G>T in the dynamin 1 (DNM1) gene. The objective of this study is to report the first case of exercise-induced collapse in Labrador Retriever in Brazil. The molecular test detected the specific genetic mutation and confirmed the clinical diagnosis in a Labrador Retriever with clinical history of weakness and collapse after exercise. It is important to include this disease as part of the differential diagnosis of neuromuscular diseases in Labrador Retriever and use the molecular test to guide matings.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The exercise-induced collapse (EIC) is a hereditary disease characterized by muscle weakness, impaired locomotion and collapse after intense exercise. This autossomic recessive disorder affects ...mainly Labrador Retriever presenting the mutation c.767G>T in the dynamin 1 (DNM1) gene. The objective of this study is to report the first case of exercise-induced collapse in Labrador Retriever in Brazil. The molecular test detected the specific genetic mutation and confirmed the clinical diagnosis in a Labrador Retriever with clinical history of weakness and collapse after exercise. It is important to include this disease as part of the differential diagnosis of neuromuscular diseases in Labrador Retriever and use the molecular test to guide matings.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
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