Study of the mutation causing type 1 polysaccharide storage myopathy in a Mangalarga Marchador population used in breeding programs / Estudo da mutação causadora da miopatia por acúmulo de polissacarídeo tipo 1 em uma população de cavalos Mangalarga Marchador utilizados em programas de melhoramento

The Mangalarga Marchador (MM) breed, which originated in Brazil, constitutes the largest number of horses in the country. The animals are versatile and used in several sports because of major investments made for the genetic improve-ment of the breed. In recent decades, advances in molecular techniques enabled the identification of genetic diseases in hor-ses. Conducting molecular tests and determining the occurrence of mutations are fundamental for the early identification and prevention of abnormalities. Among the known genetic diseases that occur in horses, the c.926G>A mutation in the GYS1gene that causes type 1 polysaccharide storage myopathy (PSSM1) stands out, because it has been identified in several breeds of horses. Although myopathy is common in MM horses, the occurrence of the c.926G>A mutation in the GYS1 gene has not yet been evaluated. The lack of knowledge about the possible presence of PSSM1 averts the adoption of control measures to prevent the spread of the disease in MM horses. Therefore, the aim of this study was to verify the occurrence of the muta-tion that causes PSSM1 in MM horses used in breeding programs. Blood DNA was extracted and the region of the GYS1gene containing the mutation was amplified and sequenced. No mutation in the GYS1 gene was found in the evaluated sam-ples. However, since clinical signs of myopathy are frequently observed in MM horses, further studies, including histological analysis, are necessary to establish the underlying causes. In addition, if there is a genetic pattern of occurrence, molecular studies should be considered.(AU)

A raça Mangalarga Marchador (MM), originária do Brasil, constitui a raça de maior número de equinos no país. Os animais são versáteis e utilizados em diversos esportes devido aos seus grandes investimentos em melhoramento genético. Nas últimas décadas, o avanço das técnicas moleculares permitiu a identificação de doenças genéticas em cavalos. A realização de testes moleculares e a determinação da ocorrência de mutações são fundamentais para a identificação precoce e prevenção de anormalidades. Dentre as doenças genéticas conhecidas em equinos, destaca-se a mutação c.926G>A no gene GYS1 causadora da miopatia por acúmulo de polissacarídeo tipo 1 (PSSM1), pois foi identificada em diversas raças equinas. Embora a miopatia seja comum em cavalos MM, a ocorrência da mutação c.926G>A no gene GYS1 ainda não foi avaliada. A falta de conhecimento sobre a possível presença de PSSM1 inviabiliza a adoção de medidas de controle para prevenir a disseminação da doença em equinos MM. Portanto, o objetivo deste estudo foi verificar a ocorrência da mutação causadora de PSSM1 em cavalos MM utilizados em programas de melhoramento. O DNA sanguíneo foi extraído e a região do gene GYS1contendo a mutação foi amplificada e sequenciada. Nenhuma mutação no gene GYS1 foi encontrada nas amostras avaliadas. No entanto, como sinais clínicos de miopatia são frequentemente observados em cavalos com MM, mais estudos, incluindo análises histológicas, são necessários para estabelecer as causas subjacentes. Além disso, se houver um padrão genético de ocorrência, estudos moleculares devem ser considerados.(AU)

Polymyositis associated with brainstem signs in a dog

Background: Polymyositis is a generalized inflammatory myopathy which can lead to rhabdomyolysis. This affection may have several origins, including degenerative, metabolic, autoimmune, infectious, inflammatory, ischemic, traumatic, by drug use, induced by toxins and also of idiopathic origin. Diagnosis is made with seric dosage, electrodiagnostic tests and muscle biopsy. Lesions in the rostral oblong medulla may affect the central vestibular system, and there may be signs such as opisthotonos, nystagmus, and strabismus. The aim of this report is to describe a case of a mixed breed dog with manifestation of polymyositis associated with brainstem signs of probable idiopathic origin. Case: A 5-year-old mixed breed male dog was attended with opisthotonos episodes for 2 days, and pelvic limbs extension and thoracic limbs flexion that lasted 10 to 20 min at intervals of approximately 1 h. The animal was anorexic and had also presented one episode of emesis. Upon neurological examination, ventromedial strabismus and Horner's syndrome was observed on the right side, besides vertical nystagmus, flaccid tetraparesis and absence of proprioception in the four limbs. Biochemical analyses revealed creatine kinase (CK) increased (2,433.9 UI/L - reference: 1.5-28.4 UI/L), and urinalysis showed dark color and presence of occult blood without, however, erythrocyturia. Electrocardiogram (ECG) showed QS wave and deviation of the electrical axis. Treatment with prednisolone (1 mg/kg, BID), phenobarbital (2 mg/kg, BID), maropitant citrate (1 mg/kg in 2 doses), and crystalloid fluid therapy (50 mL/kg/day) were prescribed. On the 4th day, the dog was more active and feeding without a tube, so it recommended keep the treatment at home. On the 10th day, the animal had proprioception present on the 4 limbs and normorexia. Biochemical analyses and urinalysis showed no alterations, but normochromic normochromic anemia with thrombocytopenia and leukocytosis by neutrophilia showed in blood count exam. PCR to Ehrlichia canis, Hepatozoon sp., and Babesia canis resulted negative. On the 15th day, blood count, biochemical analyses and urinalysis showed no alterations. Neurological examination revealed only positional vertical nystagmus. which remained as a sequel. Discussion: Polymyositis may be accompanied by rhabdomyolysis, characterized by acute muscle necrosis, increased CK and myoglobinuria. The animal had polymyositis of acute onset, with myoglobinuria and elevated CK values, whose presentation included myalgia and muscle weakness. In humans, polymyositis is accompanied by changes in electrocardiographic tracing without clinical alterations. In dogs, the first report that showed cardiac involvement was compatible with myocarditis. The changes in ECG in the present case was attributed to failure in myocardial electrical conduction. The patient also showed signs of brainstem and central vestibular system injuries. Stress myopathy, intoxication, snakebite, infectious, and metabolic diseases were discarded leading to a clinical suspicion as idiopathic origin. Similar to a published case, the patient of this report received symptomatic and supportive treatment, being discharged from the hospital 20 days after the onset of clinical signs. Thus, polymyositis may be accompanied by signs indicative of brainstem injury. Patients with rhabdomyolysis require intense monitoring due to the high risk of developing acute renal failure. Since no causative agent was identified, symptomatic treatment combined with the prevention of possible complications were fundamental for the maintenance of the animal's life.

Rhabdomyolysis secondary to an accident with marine stingray (Dasyatis family)

Whenever humans come in touch with the sea, they become vulnerable to risks, most frequently on account of invading a habitat that belongs to potentially harmful aquatic animals. World literature shows a growing number of incidents in recent years with marine stingrays, despite the fact that these animals only attack when harassed. This report describes an accident in which an amateur fisherman was injured by a marine stingray, probably of the Dasyatis family, on his left forearm. The puncture wound was highly painful and progressed to rhabdomyolysis. It is conjectured that lymphatic drainage, applied in an attempt to reduce edema and its complications, may have contributed to rebound increase in serum creatine kinase levels (CK) and, thus, has exacerbated the intensity of rhabdomyolysis. Therefore, as a measure of caution, lymphatic drainage should not enter current treatment protocols for similar cases, until new studies are performed in order to clarify this issue.(AU)

Icterícia de íris após rabdomiólise por esforço em um equino

One case of icterus iris diagnosed in an American Paint Horse is described. Stiffness, painful muscle, reluctance to move, elevated respiratory and heart rates, and icterus iris were observed in the clinical examination. Creatine kinase, aspartate aminotransferase, lactate dehydrogenase, alkaline phosphatase, and bilirubin levels were markedly elevated. Exertional rhabdomyolysis syndrome was diagnosed. Analgesic therapy, fluid therapy, and limited exercise were prescribed. After six days there was a remission of clinical signs and return the original color of the iris.

Neste trabalho, é descrito um caso de icterícia de íris em equino da raça Paint. Ao exame clínico, foram observados tremores, dor muscular, relutância em andar, taquicardia, taquipnéia e icterícia de íris. As concentrações séricas de creatina cinase, aspartato aminotransferase, lactato desidrogenase e bilirrubina indireta estavam marcadamente elevadas. Com base na anamnese, sintomatologia clínica e bioquimica sérica, diagnosticou-se síndrome da rabdomiólise por esforço. Foram instituídos os seguintes tratamentos: terapia analgésica, fluidoterapia e restrição de exercício. Após seis dias, houve a remissão dos sinais clínicos e o retorno da coloração original da íris.

Icterícia de íris após rabdomiólise por esforço em um equino

One case of icterus iris diagnosed in an American Paint Horse is described. Stiffness, painful muscle, reluctance to move, elevated respiratory and heart rates, and icterus iris were observed in the clinical examination. Creatine kinase, aspartate aminotransferase, lactate dehydrogenase, alkaline phosphatase, and bilirubin levels were markedly elevated. Exertional rhabdomyolysis syndrome was diagnosed. Analgesic therapy, fluid therapy, and limited exercise were prescribed. After six days there was a remission of clinical signs and return the original color of the iris.

Neste trabalho, é descrito um caso de icterícia de íris em equino da raça Paint. Ao exame clínico, foram observados tremores, dor muscular, relutância em andar, taquicardia, taquipnéia e icterícia de íris. As concentrações séricas de creatina cinase, aspartato aminotransferase, lactato desidrogenase e bilirrubina indireta estavam marcadamente elevadas. Com base na anamnese, sintomatologia clínica e bioquimica sérica, diagnosticou-se síndrome da rabdomiólise por esforço. Foram instituídos os seguintes tratamentos: terapia analgésica, fluidoterapia e restrição de exercício. Após seis dias, houve a remissão dos sinais clínicos e o retorno da coloração original da íris.

Icterícia de íris após rabdomiólise por esforço em um equino

One case of icterus iris diagnosed in an American Paint Horse is described. Stiffness, painful muscle, reluctance to move, elevated respiratory and heart rates, and icterus iris were observed in the clinical examination. Creatine kinase, aspartate aminotransferase, lactate dehydrogenase, alkaline phosphatase, and bilirubin levels were markedly elevated. Exertional rhabdomyolysis syndrome was diagnosed. Analgesic therapy, fluid therapy, and limited exercise were prescribed. After six days there was a remission of clinical signs and return the original color of the iris.

Neste trabalho, é descrito um caso de icterícia de íris em equino da raça Paint. Ao exame clínico, foram observados tremores, dor muscular, relutância em andar, taquicardia, taquipnéia e icterícia de íris. As concentrações séricas de creatina cinase, aspartato aminotransferase, lactato desidrogenase e bilirrubina indireta estavam marcadamente elevadas. Com base na anamnese, sintomatologia clínica e bioquimica sérica, diagnosticou-se síndrome da rabdomiólise por esforço. Foram instituídos os seguintes tratamentos: terapia analgésica, fluidoterapia e restrição de exercício. Após seis dias, houve a remissão dos sinais clínicos e o retorno da coloração original da íris.

Acute pancreatitis and acute renal failure following multiple hornet stings

Hymenoptera is a class of insects that sting in order to subdue their prey. Humans coming into accidental contact with these insects results in stings that may cause from mild local reaction like weal formation around the sting site to severe systemic reactions such as intravascular hemolysis, acute renal failure, pulmonary edema, cerebral edema, and rarely pancreatitis. We report here the clinical course of a patient who developed concurrent acute pancreatitis and pigment-induced acute renal failure after multiple hornet stings.

Acute pancreatitis and acute renal failure following multiple hornet stings

Hymenoptera is a class of insects that sting in order to subdue their prey. Humans coming into accidental contact with these insects results in stings that may cause from mild local reaction like weal formation around the sting site to severe systemic reactions such as intravascular hemolysis, acute renal failure, pulmonary edema, cerebral edema, and rarely pancreatitis. We report here the clinical course of a patient who developed concurrent acute pancreatitis and pigment-induced acute renal failure after multiple hornet stings.