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In Brazil, the production of mules with a comfortable gait primarily involves the breeding of marching saddle mules. This is achieved by crossing gaited Pêga donkeys with horses from the Mangalarga Marchador and Campolina breeds. The DMRT3:g.22999655C>A SNP is implicated in regulating gait phenotypes observed in various horse breeds, including the batida (CC) and picada (CA) gaits found in these horse breeds. We aimed to determine if genotypes influenced gait type in 159 mules and 203 donkeys genotyped for the DMRT3 SNP by PCR-RFLP analysis. About 47% of mules had the CC-genotype, while 53% had the CA-genotype. Donkeys predominantly had the CC-genotype (97%), and none had AA. Both CC- and CA-genotypes were evenly distributed among mules with the batida or picada gaits. In donkeys, the CC-genotype frequencies were consistent regardless of gait type. However, the CA-genotype was more common in picada-gaited donkeys than in batida-gaited donkeys. The prevalence of CA mules and the rare presence of the non-reference allele in donkeys align with previous findings in Mangalarga Marchador and Campolina horses. This suggests that the non-reference allele likely originated from the mares involved in donkey crosses. Our results also imply that factors beyond this variant, such as other genes and polymorphisms, influence gait traits in equids.

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Aural plaques have been linked to Equus caballus papillomavirus (EcPV). Ten types of EcPVs have already been described; however, only EcPVs 1, 3, 4, 5, and 6 have been observed in association with aural plaques. Accordingly, the objective of this study was to evaluate the presence of EcPVs in equine aural plaque samples. A total of 29 aural plaque samples (from 15 horses) were collected and assessed for the presence of the DNA of these EcPVs by PCR. Additionally, 108 aural plaque samples used in previous research were evaluated for the presence of EcPVs 8 and 9. Previously described primers were used for PCR to detect EcPVs 1 to 8, and specific primers were designed for EcPV 9. Minigenes were synthesized and used as a positive control in the PCRs for the undetected EcPVs. EcPVs 2, 7, 8, and 9 were not detected in any of the evaluated samples, suggesting that these viral types are not involved in the etiology of the equine aural plaque in Brazil. EcPV 6 was the most prevalent (81%), followed by EcPVs 3 (72%), 4 (63%) and 5 (47%), which reinforces the idea that these viruses play an important role in the etiology of the equine aural plaque in Brazil.

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Hereditary myotonia (HM) is characterized by delayed muscle relaxation after contraction as a result of a mutation in the CLCN1 gene. We describe here a complex CLCN1 variant in a mixed-breed dog with clinical and electromyographic signs of HM. Blood samples from the myotonic dog, as well as from his male littermate and parents, were analyzed via amplification of the 23 exons encoding CLCN1. After sequencing the CLCN1 gene, a complex variant was found in exon 6 c.[705T>G; 708del; 712_732del], resulting in a premature stop codon in exon 7 and a protein that was 717 amino acids shorter than the normal CLC protein. The myotonic dog was identified as homozygous recessive for the complex CLCN1 variant; its parents were heterozygous, and its male littermate was homozygous wild-type. Knowledge of the CLCN1 mutations responsible for the development of hereditary myotonia allows greater clarification of this condition.

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São Paulo state is one of the country's largest producers of beef and milk, and the midwestern region plays a key role in this production, as half of São Paulo's cattle herd is found in this region. These numbers alone demonstrate the importance of livestock in this region. Therefore, this study aimed to describe the main epidemiological and clinical signs in cattle cases at the Large Animal Hospital at FMVZ-Unesp, located in the midwestern region of São Paulo state. The present retrospective study assessed 638 clinical cases of cattle treated from January 2010 to December 2019 (10 years). Digestive system diseases were the most prevalent, diagnosed in 30.3% of patients, followed by neurological diseases (19.1%) and respiratory diseases (10.5%). The other diseases were distributed in decreasing order as follows: musculoskeletal (7.8%), hematopoietic (6.1%), genitourinary (5.6%), metabolic and nutritional (5.5%), neonatal (4.7%), cutaneous (2.6%), poisoning (2.5%), lymphatic (2.2%), cardiovascular (1.6%) and other diseases (1.4%). Rabies, a fatal zoonotic disease, was the main cause of death in this study and the main disease associated with neurological signs (23.7%). Recognizing the main diseases of cattle in this region will promote the adoption of prophylactic measures to minimize their occurrence and manage treatment to avoid economic losses and decreased productivity of herds.

O estado de São Paulo é um dos maiores produtores de carne e leite bovino do país e a região centro-oeste do estado tem papel fundamental nessa produção, pois possui a metade do rebanho de bovinos do estado. Portanto, este estudo descreve os principais achados clínicos e epidemiológicos de bovinos atendidos no Hospital de Grandes Animais da FMVZ/Unesp, localizado na região centro-oeste paulista. Foi realizado um levantamento nos arquivos da Clínica de Grandes Animais do Hospital Veterinário da FMVZ-Unesp, Botucatu/SP, dos 638 casos clínicos de bovinos atendidos de janeiro de 2010 a dezembro de 2019. Enfermidades do sistema digestório foram as mais prevalentes (30,3%), seguidas das doenças neurológicas (19,1%) e respiratórias (10,5%). As demais enfermidades foram distribuídas, em ordem decrescente, em: musculoesquelético (7,8%), haematopoiético (6,1%), geniturinário (5,6%), cutânea (2,6%), linfático (2,2%) e cardiovascular (1,6%) ou foram classificadas em doenças metabólicas e nutricionais (5,5%), neonatais (4,7%), tóxicas (2,5%) ou outros distúrbios (1,4%). A raiva, uma zoonose fatal, foi a principal causa de óbito neste estudo e a principal doença neurológica (23,7%). O reconhecimento das principais doenças dos bovinos desta região permite a adoção de medidas profiláticas e de manejo para minimizar sua ocorrência e evitar perdas econômicas com o tratamento e menor produtividade do rebanho.

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The present study investigated Salmonella spp. in the feces of 200 foals up to one year of age (100 with clinical signs of diarrhea and 100 without clinical signs of diarrhea). Bacteriological culture, serotyping, antimicrobial susceptibility, and real-time PCR (qPCR SYBR® Green or a TaqMan®) for detecting the invA gene (with and without a selective pre-enrichment step in tetrathionate broth) were performed. Bacterial culture revealed 15% (n=30) of positive animals (21 animals with diarrhea and nine without diarrhea). Among the 30 isolates, 13 different serovars were identified: S. Infantis, S. Minnesota, S. I.4,5,12:i:-; S. Anatum, S. Cerro, S. Oranienburg, S. Braenderup, S. Give, S. Newport, S. IIIb 61:c:z35, S. 109:-:1.5, S. I.4.12:d:-, S. I.6.8:-:-. Multidrug resistance was found in 43.33% (n=13) of the isolates, with one isolate obtained from animals without diarrhea and 12 isolates from animals with diarrhea. All qPCR techniques used in the study classified more samples as positive for Salmonella spp. than the bacterial culture of feces. In addition, all qPCR techniques detected more positive animals in the diarrhea group than in the diarrhea-free group. The results confirm the utility of the qPCR method without the pre-enrichment step in tetrathionate as a rapid test for Salmonella spp. in carrier animals. In animals with clinical signs of diarrhea, it can be combined with bacterial culture (antimicrobial susceptibility testing and serotyping). The isolation of Salmonella spp. in nine animals without diarrhea confirms the importance of asymptomatic carrier animals in the epidemiology of the disease. The multidrug resistance observed highlights the importance of rational antimicrobial use in horses and adopting biosecurity protocols that are efficacious in controlling the spread of infections between animals and zoonotic transmission in farms.

O presente estudo investigou a ocorrência de Salmonella spp. em fezes de 200 potros com até um ano de idade (100 com sinais clínicos de diarreia e 100 sem sinais clínicos de diarreia), utilizando as técnicas de cultivo bacteriológico e PCR em tempo real (qPCR) pelos métodos de corante fluorescente (SYBR® Green) e sonda específica (Taqman®) para a detecção do gene invA com e sem etapa de pré-enriquecimento seletivo em caldo de tetrationato. O cultivo bacteriológico revelou 15% (n=30) de animais positivos (21 animais com diarreia e nove animais sem diarreia). Dentre esses 30 isolados, 13 sorovares diferentes foram identificados: S. Infantis, S. Minnesota, S. I.4,5,12:i:-; S. Anatum, S. Cerro, S. Oranienburg, S. Braenderup, S. Give, S. Newport, S. IIIb 61:c:z35, S. 109:-:1.5, S. I.4.12:d:-, S. I.6.8:-:-. Multirresistência foi constatada em 43,33% (n=13) dos isolados, sendo um isolado obtido de animal sem diarreia e 12 isolados de animais com diarreia. Todas as técnicas de qPCR empregadas no estudo apresentaram maior número de amostras classificadas como positivas para Salmonella spp. comparadas ao cultivo bacteriológico de fezes. Adicionalmente, em todas as técnicas de qPCR houve maior número de animais detectados como positivos no grupo de animais com diarreia em relação aos animais sem diarreia. Os resultados confirmaram a utilidade do método qPCR sem a etapa de pré-enriquecimento em tetrationato, como um teste rápido para detecção de Salmonella spp. em animais portadores ou em animais com sinais clínicos de diarreia. O cultivo bacteriológico deve ser associado para a realização do teste de sensibilidade aos antimicrobianos e sorotipificação. O isolamento de Salmonella spp. em nove animais sem diarreia, confirma a importância dos animais portadores assintomáticos na epidemiologia da doença. A multirresistência observada evidencia a importância do uso racional de antimicrobianos em equinos e a importância da adoção de protocolos de biossegurança que sejam eficazes para controlar a disseminação de infecções entre animais e a transmissão zoonótica nas fazendas.

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ABSTRACT: Vagal indigestion (VI) is a digestive disorder characterized by the dysfunction of the vagus nerve. This disorder leads to changes in forestomach motility. The causes of VI are varied. Failure to transport digestive contents may occur due to mechanical obstruction or a neurogenic origin. There are few reports in the literature regarding this disease in mini-cattle. These cattle seem to be predisposed to the development of VI. The aim of the present study was to analyze the epidemiological, clinical, laboratory, and electrocardiographic aspects of mini-cattle diagnosed with VI. The medical records of nine mini-cattle diagnosed with VI were retrospectively reviewed. Mini-cattle were referred to the Large Animal Hospital in Botucatu, Brazil, from 2002 to 2021. It was observed that VI affected young mini-cattle. The predominant clinical manifestations were intermittent gas ruminoreticular tympanism with increased volume in the left paralumbar fossa and increased volume in the right ventral region (apple/pear aspect), hypomotility in ruminal auscultation and the presence of pasty stools. The mean heart rate of the animals was 75 beats per minute. In one case, bradycardia was observed by electrocardiogram and Holter monitor system. In this case, the predominance of parasympathetic activity of the autonomic nervous system was observed. The main hematological findings were leukocytosis and lymphocytosis. The therapeutic approach included ruminal fistulation and the implantation of a permanent rumen cannula. All animals undergoing the procedure were discharged with daily care instructions.

RESUMO: A indigestão vagal (IV) é um distúrbio digestivo caracterizado pela disfunção do nervo vago. Esse distúrbio leva a alterações na motilidade dos pré-estômagos. As causas da IV são variadas. A falha no transporte do conteúdo digestivo pode ocorrer por obstrução mecânica ou pode ser de origem neurogênica. Há poucos relatos na literatura a respeito dessa enfermidade em mini-bovinos. Esses bovinos parecem estar predispostos ao desenvolvimento de IV. O objetivo do presente estudo foi analisar os aspectos epidemiológicos, clínicos, laboratoriais e eletrocardiográficos de mini-bovinos diagnosticados com IV. Os prontuários de nove mini-bovinos diagnosticados com IV foram revisados retrospectivamente. Os mini-bovinos foram encaminhados ao Hospital de Grandes Animais de Botucatu, Brasil, de 2002 a 2021. Observou-se que a IV acometeu mini-bovinos jovens. As manifestações clínicas predominantes foram timpanismo ruminoreticular gasoso intermitente com aumento de volume na fossa paralombar esquerda e aumento de volume na região ventral direita (aspecto maçã/pêra), hipomotilidade na ausculta ruminal e presença de fezes pastosas. A frequência cardíaca média dos animais foi de 75 batimentos por minuto. Em um caso, foi observada bradicardia por meio do eletrocardiograma e do sistema Holter. Neste caso observou-se a predominância da atividade parassimpática do sistema nervoso autônomo. Os principais achados hematológicos foram leucocitose e linfocitose. A abordagem terapêutica incluiu fistulação ruminal e implante de cânula ruminal permanente. Todos os animais submetidos ao procedimento receberam alta hospitalar com orientações de cuidados diários.

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Objectives: This study aimed to characterize the findings in cerebral spinal fluid (CSF) analysis of horses, cattle, and sheep diagnosed with rabies. Animals: The study included 62 animals (horses, cattle, and sheep) diagnosed with rabies at a referral hospital. Methods: This was a retrospective study using medical records from large animals with neurological signs and confirmed positive direct immunofluorescence test for rabies from 2003 to 2020. The results of CSF analysis are presented descriptively. Results: Cerebral spinal fluid samples (N = 67) from 62 animals (31 horses, 24 cattle, and 7 sheep) were retrospectively evaluated. Of these 3 species, 28% (19/67) showed increased protein concentration, whereas 58% (39/67) presented mononuclear pleocytosis. In total, 37% of the samples (25/67) had protein concentration and total nucleated cell count within the reference range. Conclusions and clinical relevance: Cerebral spinal fluid from animals diagnosed with rabies was either normal or characterized by mild mononuclear pleocytosis and hyperproteinorrachia.

Analyse du liquide céphalo-rachidien chez des chevaux, bovins et moutons diagnostiqués avec la rage: une étude rétrospective de 62 cas. Objectifs: Cette étude visait à caractériser les résultats de l'analyse du liquide céphalo-rachidien (LCR) de chevaux, bovins et moutons diagnostiqués avec la rage. Animaux: L'étude a inclus 62 animaux (chevaux, bovins et moutons) diagnostiqués avec la rage dans un hôpital de référence. Méthodes: Il s'agissait d'une étude rétrospective utilisant les dossiers médicaux de grands animaux présentant des signes neurologiques et un test d'immunofluorescence directe confirmé positif pour la rage de 2003 à 2020. Les résultats de l'analyse du LCR sont présentés de manière descriptive. Résultats: Des échantillons de liquide céphalo-rachidien (N = 67) de 62 animaux (31 chevaux, 24 bovins et 7 moutons) ont été évalués rétrospectivement. Parmi ces 3 espèces, 28 % (19/67) présentaient une concentration accrue de protéines, tandis que 58 % (39/67) présentaient une pléocytose mononucléaire. Au total, 37 % des échantillons (25/67) avaient une concentration en protéines et un nombre total de cellules nucléées dans la plage de référence. Conclusions et pertinence clinique: Le liquide céphalo-rachidien des animaux diagnostiqués avec la rage était soit normal soit caractérisé par une légère pléocytose mononucléaire et une hyperprotéinorrachie.(Traduit par Dr Serge Messier).

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BACKGROUND: In the Quarter Horse (QH), myosin heavy chain myopathy (MYHM), which is characterised by nonexertional rhabdomyolysis or immune-mediated myositis (IMM) with acute muscle atrophy, is strongly associated with the missense E321G MYH1 mutation. OBJECTIVES: To document the existence of MYHM in the Brazilian QH population, this study includes a case report of two related QH foals with the E321G MYH1 mutation that had clinical signs of MYHM, with histological confirmation of IMM in one of the foals. This prompted an investigation the aim of which was to determine the allele frequency of the E321G MYH1 variant across QHs using a DNA archive in Brazil. Study design Cross sectional. METHODS: To estimate the allele frequency of the E321G MYH1 variant in Brazilian QHs, 299 DNA samples from QHs used in different disciplines (reining, barrel racing, halter, cutting and racing) were analysed. DNA fragments containing the region with the mutation were amplified by PCR and used for direct genomic sequencing. RESULTS: Of the 299 genotyped QHs, 44 animals (14.7%) were heterozygous (My/N) for the E321G MYH1 variant, and 255 (85.3%) were homozygous for the wild-type allele (N/N), implying an allele frequency of 0.074. Reining horses had a significantly higher prevalence of heterozygosity than horses in other disciplines (P = .008). MAIN LIMITATIONS: The DNA samples were collected from 2010 to 2014. As only registered QHs were evaluated, the results may not reflect the actual incidence in the general population of Brazilian QHs. CONCLUSIONS: The reported cases of MYHM and the high prevalence of the MYH1 mutation found in the assessed Brazilian QH population, particularly in reining QHs, suggests that MYHM should be included in genetic screening. Reasonable control measures are important to prevent an increase in the incidence of MYHM in QHs in Brazil.

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Dwarfism is a skeletal disorder that causes abnormal growth. In Miniature horses, dwarfism can occur as chondrodysplastic dwarfism, an autosomal recessive disorder associated with five mutations (D1, D2, D3*, D4 and c.6465A > T variant) in the aggrecan (ACAN) gene. The aim of this study was to evaluate the expression of aggrecan (at the gene and protein level) and specific cytokines (IL-1ß, IL-6, and TNF-α) in the articular cartilage of Miniature horses with chondrodysplastic dwarfism (D4/c.6465A > T genotype). Metatarsal bone samples from eight dwarf Miniature horses were collected for histopathological analysis, and articular cartilage was collected to detect and quantify aggrecan levels through Western blotting and determine the relative expression levels of ACAN, IL-1ß, IL-6, and TNF-α through qPCR. All affected animals presented chondrodysplasia-like lesions with disorganization of the chondrocyte layers and reduced the amount of an extracellular matrix. No significant difference in aggrecan expression levels in uncleaved samples from the dwarf and control groups (composed of phenotypically normal animals of similar age and breed (P = .7143)) was found using Western blotting. qPCR revealed that ACAN gene expression was higher in the affected animals than in normal animals (P = .0119). No significant difference in cytokine levels was detected between the groups. Mutant aggrecan may interfere with normal cellular function, leading to chondrodysplasia and the observed phenotypic findings.

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Equine leukoencephalomalacia (LEM) is a disease caused by the ingestion of food, especially corn, contaminated by fumonisin, a Fusarium verticillioides (synonymous with F. moniliforme) metabolite. The clinical signs of brain injuries have an acute onset and rapid evolution. This study aimed to describe the clinical findings in 11 animals diagnosed with LEM, including cerebrospinal fluid (CSF) analysis. Of these animals, 91% (10/11) were horses, and only 9% (1/11) were asinine. The clinical localization of the lesions was 64% (7/10) cerebral, manifested mainly by altered mental state and behavioral disturbance, and 36% (4/11) were brainstem lesions, manifested by incoordination, head tilt, nystagmus, facial hypoalgesia, difficulty in apprehension, chewing, and swallowing food. Postmortem findings revealed that 82% (9/11) of the lesions were in the cerebrum and 18% (2/11) in the brainstem. CSF findings, such as xanthochromia (43%, 3/7), hyperproteinorrachia (50%, 3/6), and pleocytosis (43%, 3/7) were observed. The affected animals showed neurological signs that were compatible with cerebral and/or brainstem injuries. The CSF from animals with LEM may present with xanthochromia, hyperproteinorrachia, and pleocytosis, reinforcing the fact that this disease should be included in the differential diagnosis of encephalomyelopathies.(AU)

A leucoencefalomalácia (LEM) é uma enfermidade que acomete equídeos causada pela ingestão de milho e seus derivados e feno contaminados pela micotoxina fumonisina, um metabólito do fungo Fusarium verticillioides (sinônimo para F. moniliforme). Os sinais clínicos apresentam início agudo e evolução rápida e são decorrentes de lesões encefálicas. O objetivo deste estudo é descrever os achados clínicos de 11 equídeos diagnosticados com LEM, incluindo a análise do líquido cefalorraquidiano (LCR). 91% dos animais afetados eram equinos e somente 9% (1/11) era asinino. A localização clínica das lesões era 64% (7/10) cerebrais, manifestadas por alterações no estado mental e comportamento e 36% (4/10) no tronco encefálico, manifestadas por incoordenação, desvio lateral de cabeça, nistagmo, hipoalgesia da face e dificuldade de apreensão, mastigação e deglutição de alimentos. Comparativamente, os achados post mortem revelaram que 82% (9/11) das lesões eram no cérebro e 18% (2/11) no tronco encefálico. Alterações no LCR, tais como xantocromia (43%, 3/7), hiperproteinorraquia (50%, 3/6) e pleocitose (43%, 3/7), foram observadas. Os animais afetados apresentaram sinais clínicos compatíveis com lesões encefálicas e/ou de tronco cerebral. O LCR de animais com LEM pode apresentar xantocromia, hiperproteinorraquia, e pleocitose, reforçando que esta doença deve ser incluída como diagnóstico diferencial de encefalomielites.(AU)

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Equine leukoencephalomalacia (LEM) is a disease caused by the ingestion of food, especially corn, contaminated by fumonisin, a Fusarium verticillioides (synonymous with F. moniliforme) metabolite. The clinical signs of brain injuries have an acute onset and rapid evolution. This study aimed to describe the clinical findings in 11 animals diagnosed with LEM, including cerebrospinal fluid (CSF) analysis. Of these animals, 91% (10/11) were horses, and only 9% (1/11) were asinine. The clinical localization of the lesions was 64% (7/10) cerebral, manifested mainly by altered mental state and behavioral disturbance, and 36% (4/11) were brainstem lesions, manifested by incoordination, head tilt, nystagmus, facial hypoalgesia, difficulty in apprehension, chewing, and swallowing food. Postmortem findings revealed that 82% (9/11) of the lesions were in the cerebrum and 18% (2/11) in the brainstem. CSF findings, such as xanthochromia (43%, 3/7), hyperproteinorrachia (50%, 3/6), and pleocytosis (43%, 3/7) were observed. The affected animals showed neurological signs that were compatible with cerebral and/or brainstem injuries. The CSF from animals with LEM may present with xanthochromia, hyperproteinorrachia, and pleocytosis, reinforcing the fact that this disease should be included in the differential diagnosis of encephalomyelopathies.(AU)

A leucoencefalomalácia (LEM) é uma enfermidade que acomete equídeos causada pela ingestão de milho e seus derivados e feno contaminados pela micotoxina fumonisina, um metabólito do fungo Fusarium verticillioides (sinônimo para F. moniliforme). Os sinais clínicos apresentam início agudo e evolução rápida e são decorrentes de lesões encefálicas. O objetivo deste estudo é descrever os achados clínicos de 11 equídeos diagnosticados com LEM, incluindo a análise do líquido cefalorraquidiano (LCR). 91% dos animais afetados eram equinos e somente 9% (1/11) era asinino. A localização clínica das lesões era 64% (7/10) cerebrais, manifestadas por alterações no estado mental e comportamento e 36% (4/10) no tronco encefálico, manifestadas por incoordenação, desvio lateral de cabeça, nistagmo, hipoalgesia da face e dificuldade de apreensão, mastigação e deglutição de alimentos. Comparativamente, os achados post mortem revelaram que 82% (9/11) das lesões eram no cérebro e 18% (2/11) no tronco encefálico. Alterações no LCR, tais como xantocromia (43%, 3/7), hiperproteinorraquia (50%, 3/6) e pleocitose (43%, 3/7), foram observadas. Os animais afetados apresentaram sinais clínicos compatíveis com lesões encefálicas e/ou de tronco cerebral. O LCR de animais com LEM pode apresentar xantocromia, hiperproteinorraquia, e pleocitose, reforçando que esta doença deve ser incluída como diagnóstico diferencial de encefalomielites.(AU)

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ABSTRACT: Equine leukoencephalomalacia (LEM) is a disease caused by the ingestion of food, especially corn, contaminated by fumonisin, a Fusarium verticillioides (synonymous with F. moniliforme) metabolite. The clinical signs of brain injuries have an acute onset and rapid evolution. This study aimed to describe the clinical findings in 11 animals diagnosed with LEM, including cerebrospinal fluid (CSF) analysis. Of these animals, 91% (10/11) were horses, and only 9% (1/11) were asinine. The clinical localization of the lesions was 64% (7/10) cerebral, manifested mainly by altered mental state and behavioral disturbance, and 36% (4/11) were brainstem lesions, manifested by incoordination, head tilt, nystagmus, facial hypoalgesia, difficulty in apprehension, chewing, and swallowing food. Postmortem findings revealed that 82% (9/11) of the lesions were in the cerebrum and 18% (2/11) in the brainstem. CSF findings, such as xanthochromia (43%, 3/7), hyperproteinorrachia (50%, 3/6), and pleocytosis (43%, 3/7) were observed. The affected animals showed neurological signs that were compatible with cerebral and/or brainstem injuries. The CSF from animals with LEM may present with xanthochromia, hyperproteinorrachia, and pleocytosis, reinforcing the fact that this disease should be included in the differential diagnosis of encephalomyelopathies.

RESUMO: A leucoencefalomalácia (LEM) é uma enfermidade que acomete equídeos causada pela ingestão de milho e seus derivados e feno contaminados pela micotoxina fumonisina, um metabólito do fungo Fusarium verticillioides (sinônimo para F. moniliforme). Os sinais clínicos apresentam início agudo e evolução rápida e são decorrentes de lesões encefálicas. O objetivo deste estudo é descrever os achados clínicos de 11 equídeos diagnosticados com LEM, incluindo a análise do líquido cefalorraquidiano (LCR). 91% dos animais afetados eram equinos e somente 9% (1/11) era asinino. A localização clínica das lesões era 64% (7/10) cerebrais, manifestadas por alterações no estado mental e comportamento e 36% (4/10) no tronco encefálico, manifestadas por incoordenação, desvio lateral de cabeça, nistagmo, hipoalgesia da face e dificuldade de apreensão, mastigação e deglutição de alimentos. Comparativamente, os achados post mortem revelaram que 82% (9/11) das lesões eram no cérebro e 18% (2/11) no tronco encefálico. Alterações no LCR, tais como xantocromia (43%, 3/7), hiperproteinorraquia (50%, 3/6) e pleocitose (43%, 3/7), foram observadas. Os animais afetados apresentaram sinais clínicos compatíveis com lesões encefálicas e/ou de tronco cerebral. O LCR de animais com LEM pode apresentar xantocromia, hiperproteinorraquia, e pleocitose, reforçando que esta doença deve ser incluída como diagnóstico diferencial de encefalomielites.

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In this retrospective study, clinical records of nine horses with a diagnosis of Bothrops envenomation were investigated. The accidents were classified as severe (5/9), moderate (2/9), or mild (2/9) according to the adapted bothropic snakebite severity score (BSSS). All snakebites were on the head region. The main clinical signs were local edema, blood coagulation disorders, and respiratory distress. The whole-blood clotting time (WBCT) was prolonged in all horses, and five horses presented with uncoagulable blood. All horses received specific snake antivenom according to the BSSS (six vials for severe, four vials for moderate, and two vials for mild accidents), and emergency tracheotomy was required in six horses because of respiratory distress. One horse died after eight days of hospitalization, whereas the others were discharged after nine days of hospitalization. The BSSS plus the WBCT were useful in determining the prognosis and the amount and frequency of antivenom therapy. Snakebite accidents are emergency cases; therefore, rapid and efficient therapeutic intervention will reflect positively on the prognosis.

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Four causative mutations (D1, D2, D3*, and D4) of chondrodysplastic dwarfism have been described in the equine aggrecan (ACAN) gene. Homozygotes for one of these mutations and heterozygotes for any combination of these mutations exhibit the disproportionate dwarfism phenotype. However, no case description of homozygotes for D4 (D4/D4) has been reported in the literature, to our knowledge. We report 2 Miniature horses with the genotype D4/D4 in the ACAN gene. Clinically, the 2 dwarfs had a domed head that was large compared to the rest of the body, mandibular prognathism, and short and bowed limbs, mainly in the proximal region of the metatarsal bones. Radiographic examination revealed contour irregularities of the subchondral bone in the long bones and confirmed mandibular prognathism; histopathology revealed irregular chondrocyte organization. To determine the genotypes of the horses, we performed DNA extraction from white blood cells, PCR, and Sanger sequencing. Genotyping demonstrated that these 2 animals had the D4/D4 genotype in the ACAN gene. The D4/D4 dwarfs were clinically similar to animals with the other ACAN genotypes reported for this disease. Identification of heterozygous animals makes mating selection possible and is the most important control measure to minimize economic losses and casualties.

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Glanzmann's thrombasthenia (GT) is an autosomal recessive inherited disorder characterized by changes in platelet aggregation, leading to hemorrhage and epistaxis. To date, two independent mutations have been described in horses and associated with this disorder, a point mutation (c.122G > C) and a 10-base-pair deletion (g.1456_1466del) in the Integrin subunit alpha2ß gene (ITGA2B) of horses of different breeds (Quarter Horse, Thoroughbred, Oldenburg, and Peruvian Paso). ITGA2B codifies the αIIb subunit of the αIIbß3 integrin, also termed platelet fibrinogen receptor. Horses with GT have been diagnosed in the USA, Canada, Japan, and Australia. However, there are no studies on the prevalence of GT in horses. The aim of this study is to evaluate the prevalence of the mutations responsible for GT in horses in Brazil. A total of 1053 DNA samples of clinically healthy Quarter Horse (n = 679) and Warmblood horses (n = 374) were used. DNA fragments were amplified by PCR and sequenced. The genotype of each animal was analyzed and compared to the nucleotide sequence of the ITGA2B gene found on GenBankTM. There were no carriers in the analyzed samples, that is, all animals tested were wild type. Therefore, under the conditions in which this study was carried out, it can be inferred that GT seems to be extremely rare in the population of Quarter Horses and Warmbloods in Brazil, although it is not possible to affirm that there are no horses carrying mutated alleles in Brazil.

RESUMO

The Labrador Retriever is among the main breeds with the greatest predisposition to obesity. Several factors, especially the interrelationships between food management, exercise and social factors; influence the likelihood of a dog becoming obese. Furthermore, genetic factors are also responsible for obesity in dogs, and in Labrador Retriever, a frameshift mutation (P187fs) in pro-opiomelanocortin (POMC) gene is strongly associated with obesity. There is no knowledge of studies that have previously evaluated the prevalence of the canine POMC deletion (P187fs) in Brazilian Labrador Retriever. Therefore, the objective of this study was to investigate this mutation in Labrador Retriever dogs in Brazil. Of the 108 Labrador Retrievers that were assessed in this study, 59 were from a previous study, composed by animals assisted in a veterinary hospital with unknown lineage, and 49 were from a prospective study, composed of 19 pet and 30 assistance/rescue Labrador Retriever dogs. The obesity risk and appetite questionnaire were applied, with some modifications, to tutors of the animals used in the prospective study. Fragments of the DNA, containing the mutation, were amplified by PCR and submitted to direct gene sequencing. The allele frequency of the mutation was 21.3% and was out of Hardy-Weinberg equilibrium (P<0.05). Using only the data of animals with known lineage, the presence of the mutated allele was higher in the Assistance/rescue Group than Pet Group (P<0.01), furthermore, the allele frequencies observed in Assistance Group (31.7%) was out of Hardy-Weinberg equilibrium (P<0.05), while that in the Pet Group (18.4%) was in equilibrium (P>0.05). Although the mutation has increased the food-motivation in the assistance/rescue dogs, other variables, especially frequent exercising, favored that these animals maintained the ideal body weight (body condition score = 5). In summary, the Hardy-Weinberg disequilibrium observed in the allele distribution of the deletion POMC_P187fs in this study, independently of the Labrador Retriever group assessed, suggesting the possibility of positive selection of the mutated allele, which may lead to the maintenance of this deleterious allele in the studied population.(AU)

O Labrador Retriever é uma das principais raças caninas com maior predisposição à obesidade. Vários fatores, especialmente as interrelações entre a alimentação, exercício e fatores sociais, influenciam a probabilidade de um cão se tornar obeso. Além disso, fatores genéticos são também responsáveis pela obesidade em cães, e no Labrador Retriever a mutação "frameshift" P187fs no gene pró-opiomelanocortina (POMC) está fortemente associada à obesidade. Não existem estudos prévios de prevalência da deleção P187fs no gene POMC em cães Labrador Retriever no Brasil. Portanto, o objetivo deste estudo foi investigar esta mutação em cães da raça Labrador Retriever no Brasil. Dos 108 Labradores Retrievers avaliados neste estudo, 59 eram de um estudo retrospectivo (composto por animais atendido no hospital veterinário e sem linhagem conhecida) e 49 eram de um estudo prospectivo (composto por 19 cães pet e 30 cães de assistência/resgate). Um questionário de risco de obesidade modificado foi aplicado nos tutores dos animais usados no estudo prospectivo. Fragmentos de DNA, contendo a mutação, foram amplificados por PCR e submetidos ao sequenciamento gênico direto. A frequência alélica da mutação foi de 21,3% e estava fora do equilíbrio de Hardy-Weinberg (P<0,05). Usando somente os dados dos animais de linhagem conhecida, a presença do alelo mutado foi maior no Grupo de cães de Assistência/resgate que no Grupo de Pets (P<0,01), além disso, as frequências alélicas nos Grupos de Assistência/resgate (31,7%) e no de pets (18,4%) estavam fora e em equilíbrio de Hardy-Weinberg (P<0,05), respectivamente. Embora a mutação tenha aumentado a motivação pelo alimento em cães Labrador Retriever do Grupo de Assistência/resgate, outras variáveis, especialmente o frequente exercício, favoreceu a manutenção o peso corporal ideal (peso corporal = 5). Em resumo, o desequilíbrio de Hardy-Weinberg observado na distribuição do alelo POMC_P187fs observado neste estudo, independentemente do grupo de Labrador Retriever avaliado, sugere a possibilidade de uma seleção positiva para o alelo mutado, o qual poderá levar a manutenção desse alelo deletério nesta população.(AU)

Assuntos

RESUMO

The Labrador Retriever is among the main breeds with the greatest predisposition to obesity. Several factors, especially the interrelationships between food management, exercise and social factors; influence the likelihood of a dog becoming obese. Furthermore, genetic factors are also responsible for obesity in dogs, and in Labrador Retriever, a frameshift mutation (P187fs) in pro-opiomelanocortin (POMC) gene is strongly associated with obesity. There is no knowledge of studies that have previously evaluated the prevalence of the canine POMC deletion (P187fs) in Brazilian Labrador Retriever. Therefore, the objective of this study was to investigate this mutation in Labrador Retriever dogs in Brazil. Of the 108 Labrador Retrievers that were assessed in this study, 59 were from a previous study, composed by animals assisted in a veterinary hospital with unknown lineage, and 49 were from a prospective study, composed of 19 pet and 30 assistance/rescue Labrador Retriever dogs. The obesity risk and appetite questionnaire were applied, with some modifications, to tutors of the animals used in the prospective study. Fragments of the DNA, containing the mutation, were amplified by PCR and submitted to direct gene sequencing. The allele frequency of the mutation was 21.3% and was out of Hardy-Weinberg equilibrium (P<0.05). Using only the data of animals with known lineage, the presence of the mutated allele was higher in the Assistance/rescue Group than Pet Group (P<0.01), furthermore, the allele frequencies observed in Assistance Group (31.7%) was out of Hardy-Weinberg equilibrium (P<0.05), while that in the Pet Group (18.4%) was in equilibrium (P>0.05). Although the mutation has increased the food-motivation in the assistance/rescue dogs, other variables, especially frequent exercising, favored that these animals maintained the ideal body weight (body condition score = 5). In summary, the Hardy-Weinberg disequilibrium observed in the allele distribution of the deletion POMC_P187fs in this study, independently of the Labrador Retriever group assessed, suggesting the possibility of positive selection of the mutated allele, which may lead to the maintenance of this deleterious allele in the studied population.(AU)

O Labrador Retriever é uma das principais raças caninas com maior predisposição à obesidade. Vários fatores, especialmente as interrelações entre a alimentação, exercício e fatores sociais, influenciam a probabilidade de um cão se tornar obeso. Além disso, fatores genéticos são também responsáveis pela obesidade em cães, e no Labrador Retriever a mutação "frameshift" P187fs no gene pró-opiomelanocortina (POMC) está fortemente associada à obesidade. Não existem estudos prévios de prevalência da deleção P187fs no gene POMC em cães Labrador Retriever no Brasil. Portanto, o objetivo deste estudo foi investigar esta mutação em cães da raça Labrador Retriever no Brasil. Dos 108 Labradores Retrievers avaliados neste estudo, 59 eram de um estudo retrospectivo (composto por animais atendido no hospital veterinário e sem linhagem conhecida) e 49 eram de um estudo prospectivo (composto por 19 cães pet e 30 cães de assistência/resgate). Um questionário de risco de obesidade modificado foi aplicado nos tutores dos animais usados no estudo prospectivo. Fragmentos de DNA, contendo a mutação, foram amplificados por PCR e submetidos ao sequenciamento gênico direto. A frequência alélica da mutação foi de 21,3% e estava fora do equilíbrio de Hardy-Weinberg (P<0,05). Usando somente os dados dos animais de linhagem conhecida, a presença do alelo mutado foi maior no Grupo de cães de Assistência/resgate que no Grupo de Pets (P<0,01), além disso, as frequências alélicas nos Grupos de Assistência/resgate (31,7%) e no de pets (18,4%) estavam fora e em equilíbrio de Hardy-Weinberg (P<0,05), respectivamente. Embora a mutação tenha aumentado a motivação pelo alimento em cães Labrador Retriever do Grupo de Assistência/resgate, outras variáveis, especialmente o frequente exercício, favoreceu a manutenção o peso corporal ideal (peso corporal = 5). Em resumo, o desequilíbrio de Hardy-Weinberg observado na distribuição do alelo POMC_P187fs observado neste estudo, independentemente do grupo de Labrador Retriever avaliado, sugere a possibilidade de uma seleção positiva para o alelo mutado, o qual poderá levar a manutenção desse alelo deletério nesta população.(AU)

Assuntos

RESUMO

Progressive retinal atrophy (PRA) due to the c.5G>A mutation in the progressive rod-cone degeneration (PRCD) gene is an important genetic disease in English cocker spaniel (ECS) dogs. Because the prevalence of this disease has not been verified in Brazil, this study aimed to evaluate the allele frequency of the c.5G>A mutation in the PRCD gene. Purified DNA from 220 ECS dogs was used for genotyping, of which 131 were registered from 18 different kennels and 89 were unregistered. A clinical eye examination was performed in 28 of the genotyped animals; 10 were homozygous mutants. DNA fragments containing the mutation region were amplified by PCR and subjected to direct genomic sequencing. The prcd-PRA allele frequency was 25.5%. Among the registered dogs, the allele frequency was 14.9%; among the dogs with no history of registration, the allele frequency was 41%. Visual impairment was observed in 80% (8/10) of the homozygous mutant animals that underwent clinical eye examination. The high mutation frequency found in this study emphasizes the importance of genotyping ECSs as an early diagnostic test, especially as part of an informed breeding program, to avoid clinical cases of PRA.

RESUMO

Palicourea marcgravii (Rubiaceae) is considered the most important toxic plant affecting livestock farming in Brazil. This study describes an outbreak of spontaneous poisoning by P. marcgravii in sheep. Forty-nine sheep died while showing clinical signs of sudden death after having access to the plant. During the necropsy, P. marcgravii leaves were observed in the rumens of the animals. Histopathological analysis demonstrated hydropic degeneration of the kidneys. Monofluoracetate concentration obtained in Palicourea samples was 0.53% (5.3 µg/mg). These findings collectively indicate that the affected animals died from poisoning due to P. marcgravii.

Assuntos

RESUMO

Albinism is a genetic disease characterized by deficient melanin production making affected animals more susceptible to skin problems, negatively influencing production systems of the same. In buffalo, a nonsense mutation (c.1431G>A) in the tyrosinase gene was already described, which is responsible for the oculocutaneous albinism buffalo phenotype. However, prevalence studies have never been performed for this anomaly in Brazil. Therefore, the objective of this study was to investigate this mutation in buffalo herd in Brazil. Of the 315 buffalo tested with no albinism phenotype evident, 11 (3.5%) were heterozygous for the mutation and none were mutated homozygous, showing the existence of the albinism gene in buffalo production herds and proving the importance of prevalence studies for hereditary diseases in order to prevent the dissemination of these same genes and their negative productivity consequences.(AU)

O Albinismo é uma doença genética caracterizada pela deficiência na produção de melanina, o que torna os animais afetados mais susceptíveis a problemas cutâneos e influencia negativamente a criação destes animais. A mutação nonsense (c.1431G>A) no gene da tyrosinase já foi descrita como responsável pelo albinismo oculocutâneo em búfalos, entretanto estudos prévios sobre a prevalência dessa mutação ainda não foram realizados no Brasil. Portanto, o objetivo deste estudo foi avaliar a presença desta mutação em uma população de búfalos brasileiros. Foram genotipados 315 búfalos clinicamente normais, ou seja, sem o fenótipo albino evidente. Desses, 11 (3,5%) eram heterozigotos para a mutação (N/TYR) e os demais eram homozigotos selvagens (N/N). Este resultado demonstra que o alelo mutado para o albinismo em búfalo está presente no rebanho brasileiro e aponta a importância de estudos de prevalência de enfermidades hereditárias com o objetivo de prevenir a disseminação desses alelos mutados, minimizando os prejuízos.(AU)

Assuntos