420 resultados para Friedreich ataxia


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The Caudal Cervical Spondylomyelopathy, also known as “Wobbler syndrome” is a neurological disorder that affects mainly breeds of large and giant size, especially Doberman pinsher and Great danes. Its aetiology is multifactorial and leads to a narrowing of the spinal canal by morphological and positional caudal cervical vertebrae (C5, C6 and C7), causing compression of the spinal cord and nerve roots. The clinical signs presented by the affected animals are progressive ataxia of hindlimbs and, later, the forelimbs, sometimes progressing to tetraparesis. Neck pain may be present. The diagnosis is made through the association of clinical signs and diagnostic imaging such as radiography, myelography, computed tomography and magnetic resonance imaging. According to the classification of the lesion obtained by imaging examinations, the conservative or surgical treatment is established and the prognosis is variable in accordance with the degree of affection of the spinal cord

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Livestock poisoning by plants is a frequent occurrence which determines severe losses, such as the fall in the milk and meat production, the cost of expensive treatments, the state of immunosuppression, or even the animal's death. Cattle ingest toxic plants only when there is food shortage, when they cannot select what they eat, or when they ingest food for preference, which is the case of Hovenia dulcis fruits, very rich in sucrose. This plant is widely distributed in the southern and southeastern Brazilian regions. In literature, there are some cases of severe human liver injury associated with a long-term of H. dulcis leaf and fruit tea intake, and only one report regarding spontaneous poisoning of goats caused by this plant ingestion. However, its toxic effects associated with spontaneous ingestion by cattle have never been reported. This paper reports the first case of spontaneous poisoning in cattle by H. dulcis, which occurred in a dairy farm in southwest Paraná, Brazil. Three cattle individuals showed anorexia, ruminal atony, severe diarrhea and neurological tournament, head pressing, blindness, ataxia, and circling. The necropsy of the animals was done, and the remaining alterations were restricted to the digestive system and brain. The clinical signs presented by the animals are characteristic of polioencephalomalacia (PEM), caused by changes in the thiamine metabolism. Furthermore, clinical signs, gross, and microscopic lesions as well as the large amount of the plant throughout the digestive segment led to a diagnosis.

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Um equino macho, raça Manga Larga, de 20 dias de idade, pesando 55 kg foi atendido no Hospital Veterinário “Luiz Quintiliano de Oliveira” com histórico de queda no dia anterior, apresentando impotência funcional e desvio do eixo ósseo do membro pélvico esquerdo (MPE). Ao exame radiográfico, constatou-se uma fratura classificada como Salter- Harris tipo II, na região distal da tíbia esquerda, com indicação para osteossíntese. Ao exame físico geral, observou-se frequência cardíaca (FC) de 82 batimentos.min-1, frequência respiratória (f) de 60 movimentos.min-1, mucosas róseas, tempo de preenchimento capilar de dois segundos, temperatura retal (ToC) de 38,5oC e hidratação adequada. Como medicação pré-anestésica, administrou-se xilazina (0,5 mg.kg-1) IV. A indução foi realizada por meio da administração de midazolam (0,1mg.kg-1) e cetamina (2mg.kg-1) IV. Seguiu-se a intubação orotraqueal com sonda n o 12 conectando-se a um circuito anestésico com reinalação parcial de gases, e a manutenção foi realizada com isofluorano em fluxo diluente de oxigênio a 100%, sob ventilação espontânea. Realizou-se a técnica de anestesia peridural com o paciente em decúbito lateral direito, introduzindo uma agulha 30x8 percutaneamente até atingir o espaço peridural entre as vértebras L6 e S1, onde se administrou lidocaína a 2% (2,2mg.kg-1) com vasoconstritor, perfazendo um volume de 6 mLs. Adicionalmente foi realizado o bloqueio perineural dos nervos tibial e fibular do membro acometido, com administração de 5 mLs de lidocaína a 2% com vasoconstritor em cada ponto. A administração de anestésicos locais pela via peridural na região L6 – S1 não é rotineiramente usada em equinos, uma vez que provoca ataxia ou perda do tônus muscular, aumentando os riscos relacionados à intervenção anestésica. No entanto, a recuperação do potro nesse relato de caso foi rápida e isenta de complicações, provalvelmente proporcionando anestesia multimodal e consequentemente menor depressão cardiovascular. A associação da anestesia peridural e bloqueio dos nervos tibial e fibular à anestesia geral, pode ser uma alternativa para intervenções cirúrgicas em membros pélvicos de potros, uma vez que demonstrou ser efetiva e de fácil execução.

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Antibiotics are potentially a cause of neurotoxicity in dialysis patients, the most common are thebeta-lactams as ceftazidime and cefepime, and few cases have been reported after piperacillin/tazobactam use. This report presents a case of a hypertensive and diabetic 67-year-old woman inregular hemodialysis, which previously had a stroke. She was hospitalized presenting pneumonia,which was initially treated with cefepime. Two days after treatment, she presented dysarthria, lefthemiparesis, ataxia, and IX and X cranial nerves paresis. Computed tomography showed no acutelesions and cefepime neurotoxicity was hypothesized, and the antibiotic was replaced bypiperacillin/tazobactam. The neurologic signs disappeared; however, 4 days after with piperacillin/tazobactam treatment, the neurological manifestations returned. A new computed tomographyshowed no new lesions, and the second antibiotic regimen withdrawn. After two hemodialysissessions, the patient completely recovered from neurological manifestations. The patient presentedsequentially neurotoxicity caused by two beta-lactams antibiotics. This report meant to alertclinicians that these antibiotics have dangerous neurological effects in chronic kidney diseasepatients.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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The present study describes a technique to obtain consecutive luteal samples by colpotomy. The animals received an epidural anesthesia and local anesthesia (vaginal vault) and after ten minutes the vaginal vault was incised with a scalpel blade and tissue was dissected to provide access to the pelvic cavity and to retract the ovary into the vagina. Then, a luteal biopsy was performed with a Yomann biopsy nipper. Signs indicative of pain and stress during the vaginal vault incision, traction of ovary or luteal biopsy were observed only in two collections. However, these signs were observed in ten collections during dissection of the vaginal wall and peritoneum. The occurrence of ataxia was observed in 26 collections and it was usually related to a longer duration of the procedure. Ataxia could be divided in light (15/26), moderate (6/26) and severe (5/26). The occurrence of ovarian adhesions ipsilateral to the incision was evaluated only in the initial four collections. Adhesions were present in 16 collections. The protocol described above provided a safe and efficient method to acquire luteal samples. The low incidence of adhesions allows the consecutive use of females without any interference in subsequent ovulations and collections.

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Context. Invasive species are a growing global problem. Biological invasions can result in numerous harmful impacts on local ecologies, and non-native herpetofauna are frequently ignored. Nile monitor lizards (Varanus niloticus) and Burmese pythons (Python molurus bivittatus, recently reassessed as Python bivittatus bivittatus), have become established in southern Florida. Both are large, semi-aquatic predators that pose serious threats to a variety of threatened and endangered species, as well as to the unique ecology of the area. Aims. Acetaminophen (CAS#103-90-2), a lethal oral toxicant for the invasive brown treesnake (Boiga irregularis) on Guam, was investigated as a possible toxicant in juvenile Burmese pythons and Nile monitors. Methods. Dead neonatal mouse (DNM) baits containing 0, 10, 20, or 40 mg acetaminophen were force-fed to Nile monitors, whereas DNM containing doses of 0, 20, 40, or 80 mg were freely consumed by Burmese pythons. Subjects were frequently observed post-treatment for general condition and position, with special attention paid to activity (if any), behaviour, respiration, bleeding, emesis, ataxia, and mortality. Key results. In Nile monitors, acetaminophen doses of 10, 20, or 40 mg resulted in 0, 50 and 100% mortality, respectively. In Burmese pythons, doses of 20, 40, or 80 mg resulted in 14.3, 85.7 and 100% mortality, respectively. No mortality was observed in control individuals of either species. A negative correlation between dosage (mg kg–1) and time-to-death was observed in both species. Dosages ranging from 522 to 2438 mg kg–1 and 263 to 703 mg kg–1 were uniformly lethal to monitors and pythons, respectively. Neither species exhibited signs of pain or discomfort following acetaminophen treatment. Conclusions. Acetaminophen is an effective toxicant in juvenile Nile monitors and Burmese pythons. Further investigation into acetaminophen toxicity in adults of these species is merited. Implications. Although further investigation into adult lethal dosages and strategies to optimize bait deployment while minimizing secondary hazards is required, acetaminophen may have a role to play in the control of these invasive species in Florida.

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Individuals treated with combined valproate-lamotrigine rarely present late adverse effects (unrelated to introduction and titration). We describe four patients in whom such effects occurred after continuous, long-term use of valproate-lamotrigine (at 9 months to 2 years after final antiepileptic drug adjustment). The patients presented heterogeneous disturbances, including ataxia, vertigo, and headache, and rare movement disorders, such as tics and abnormal eye movements. Although these effects are heterogeneous in their occurrence and timing, they can alert physicians to the possibility of late neurologic disturbances, and must be considered in order to avoid unnecessary ancillary tests. Treatment discontinuation is unnecessary, given that a small decrease in dose led to remission of these adverse effects. (c) 2012 Elsevier Inc. All rights reserved.

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Human cells are constantly exposed to DNA damage. Without repair, damage can result in genetic instability and eventually cancer. The strong association between the lack of DNA damage repair, mutations and cancer is dramatically demonstrated by a number of cancer-prone human syndromes, such as xeroderma pigmentosum (XP), ataxia-telangiectasia (AT) and Fanconi anemia (FA). This review focuses on the historical discoveries related with these three diseases and describes their impact on the understanding of DNA repair mechanisms and the causes of human cancer. As deficiencies in DNA repair are also often related with progeria symptoms, unrepaired damage and aging are somehow related. Several other pathologies associated with DNA repair defects, genetic instability and increased cancer risk are also discussed. In fact, studies with cells from these many syndromes have helped in understanding important levels of protection against cancer and aging, although little help has actually been conferred to the patients in terms of therapy. Finally, the recent advances in combined basic and translational research on DNA repair and chemotherapy are presented.

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Objective Epidermoid cysts of the cerebellopontine angle (CPA) can be a surgical challenge for the pediatric neurosurgeon. Ideally, total removal must be achieved; however, occasional adhesions of these tumors to vital neurovascular structures and extension far beyond the midline may preclude their total removal. The aims of this article are to present an alternative surgical approach to these lesions and to provide the rationale for this technique. Material and methods A 16-year-old boy was admitted to our pediatric neurosurgery department with a 1-year history of nonspecific headaches. His neurological examination showed right-sided dysmetria and gait ataxia. Magnetic resonance scans showed a space-occupying lesion on the right CPA with low intensity on T-1-weighted images and high intensity on T-2-weighted images. Results Craniotomy for tumor excision via pre- and subtemporal transtentorial approach was performed disclosing a 3.5 x 3 x 2.8-cm(3) well-encapsulated tumor, which was confirmed to be an epidermoid cyst. The postoperative course was uneventful. Conclusions A combined pre- and subtemporal approach utilizes a wide opening of the tentorium and the option of supratentorial retraction of the cerebellum to provide an excellent angle of approach to CPA lesions involving the anterolateral aspect of the brain stem in children.

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Uniform conduction slowing has been considered a characteristic of inherited demyelinating neuropathies. We present an 18-year-old girl, born from first cousins, that presented a late motor and psychological development, cerebellar ataxia, facial diplegia, abnormal eye movement, scoliosis, and corpus callosum agenesis, whose compound muscle action potentials were slowed and dispersed. A mutation was found on KCC3 gene, confirming Andermann syndrome, a disease that must be included in the differential diagnosis of inherited neuropathies with non-uniform conduction slowing.

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This is the first description of a trypanosoma vivax outbreak in the state of Sao Paulo (municipality of Lins). Fever, jaundice, decreased milk production, weight loss, profuse diarrhea, abortion, anemia, leukocytosis and hyperfibrinogenemia were observed in the affected animals. Thirty-one cows and calves died out of a total of 1080 in the herd. Three cows showed neurological symptoms like dysmetria, ataxia, muscle weakness, ptyalism, lymph node enlargement and submandibular edema. Flagellated hemoparasites were observed in blood smears. The species was diagnosed as T vivax by means of PCR. This T vivax strain showed resistance to diaminazene aceturate and the infection spread quickly at the herd. From the ELISA test, 599 serum samples (98.36%) were positive for anti-T. vivax IgG antibodies. This outbreak occurred during a very dry period, which indicates that other factors were involved in the outbreak, such as absence of tabanids and large populations of Haematobia irritans and Stomoxys calcitrans. The increases in these populations may have been due to the use of biosolid waste from sugar and ethanol plants in the sugarcane plantations surrounding the dairy farm.

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Avaliaram-se, durante 60 minutos, 10 bovinos após administração intravenosa de 0,1mg.kg-1 de xilazina ou 10μg.kg-1 de detomidina, quanto às frequências cardíaca e respiratória, movimentos ruminais, pressão arterial média, temperatura retal e respostas comportamentais como ataxia ou decúbito, ptose palpebral, estado de alerta ou sedação e redução da altura da cabeça em relação ao solo, além da presença de salivação, micção e concentração sanguínea de glicose. Observou-se que a xilazina, via intravenosa, em bovinos, ao mesmo tempo que promove sedação mais intensa e prolongada que a detomidina, induz a uma maior quantidade de efeitos indesejáveis, como salivação e decúbito, e redução das frequências cardíaca e respiratória, da pressão arterial média, da motilidade ruminal e da temperatura, sendo estas alterações mais prolongadas. Conclui-se que a detomidina pode ser utilizada com segurança em bovinos na dose de 10μg.kg-1, promovendo sedação e permanência do animal em posição quadrupedal.

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This is the first description of a Trypanosoma vivax outbreak in the state of São Paulo (municipality of Lins). Fever, jaundice, decreased milk production, weight loss, profuse diarrhea, abortion, anemia, leukocytosis and hyperfibrinogenemia were observed in the affected animals. Thirty-one cows and calves died out of a total of 1080 in the herd. Three cows showed neurological symptoms like dysmetria, ataxia, muscle weakness, ptyalism, lymph node enlargement and submandibular edema. Flagellated hemoparasites were observed in blood smears. The species was diagnosed as T. vivax by means of PCR. This T.vivax strain showed resistance to diaminazene aceturate and the infection spread quickly at the herd. From the ELISA test, 599 serum samples (98.36%) were positive for anti-T.vivax IgG antibodies. This outbreak occurred during a very dry period, which indicates that other factors were involved in the outbreak, such as absence of tabanids and large populations of Haematobia irritans and Stomoxys calcitrans. The increases in these populations may have been due to the use of biosolid waste from sugar and ethanol plants in the sugarcane plantations surrounding the dairy farm.