142 research outputs found

    Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern

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    Abstract\ud \ud Background\ud Limb girdle muscular dystrophy type 2G (LGMD2G) is a subtype of autosomal recessive muscular dystrophy caused by mutations in the telethonin gene. There are few LGMD2G patients worldwide reported, and this is the first description associated with early tibialis anterior sparing on muscle image and myopathic-neurogenic motor unit potentials.\ud \ud \ud Case presentation\ud Here we report a 31 years old caucasian male patient with progressive gait disturbance, and severe lower limb proximal weakness since the age of 20 years, associated with subtle facial muscle weakness. Computed tomography demonstrated soleus, medial gastrocnemius, and diffuse thigh muscles involvement with tibialis anterior sparing. Electromyography disclosed both neurogenic and myopathic motor unit potentials. Muscle biopsy demonstrated large groups of atrophic and hypertrophic fibers, frequent fibers with intracytoplasmic rimmed vacuoles full of autophagic membrane and sarcoplasmic debris, and a total deficiency of telethonin. Molecular investigation identified the common homozygous c.157C > T in the TCAP gene.\ud \ud \ud Conclusion\ud This report expands the phenotypic variability of telethoninopathy/ LGMD2G, including: 1) mixed neurogenic and myopathic motor unit potentials, 2) facial weakness, and 3) tibialis anterior sparing. Appropriate diagnosis in these cases is important for genetic counseling and prognosis.We wish to thank the patient for participation in this study. We acknowledge\ud Cleides Campos de Oliveira, Leticia Nogueira and Simone Ferreira do\ud Nascimento for technical assistance. MV, LUY and CFA are supported by\ud FAPESP-CEPID, and INCT-CNPq, Capes- COFECUB

    Experimental Gastric Carcinogenesis in Cebus apella Nonhuman Primates

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    The evolution of gastric carcinogenesis remains largely unknown. We established two gastric carcinogenesis models in New-World nonhuman primates. In the first model, ACP03 gastric cancer cell line was inoculated in 18 animals. In the second model, we treated 6 animals with N-methyl-nitrosourea (MNU). Animals with gastric cancer were also treated with Canova immunomodulator. Clinical, hematologic, and biochemical, including C-reactive protein, folic acid, and homocysteine, analyses were performed in this study. MYC expression and copy number was also evaluated. We observed that all animals inoculated with ACP03 developed gastric cancer on the 9th day though on the 14th day presented total tumor remission. In the second model, all animals developed pre-neoplastic lesions and five died of drug intoxication before the development of cancer. The last surviving MNU-treated animal developed intestinal-type gastric adenocarcinoma observed by endoscopy on the 940th day. The level of C-reactive protein level and homocysteine concentration increased while the level of folic acid decreased with the presence of tumors in ACP03-inoculated animals and MNU treatment. ACP03 inoculation also led to anemia and leukocytosis. The hematologic and biochemical results corroborate those observed in patients with gastric cancer, supporting that our in vivo models are potentially useful to study this neoplasia. In cell line inoculated animals, we detected MYC immunoreactivity, mRNA overexpression, and amplification, as previously observed in vitro. In MNU-treated animals, mRNA expression and MYC copy number increased during the sequential steps of intestinal-type gastric carcinogenesis and immunoreactivity was only observed in intestinal metaplasia and gastric cancer. Thus, MYC deregulation supports the gastric carcinogenesis process. Canova immunomodulator restored several hematologic measurements and therefore, can be applied during/after chemotherapy to increase the tolerability and duration of anticancer treatments

    ATIVIDADE FÍSICA EM CASA/PARQUES/ACADEMIAS AO AR LIVRE

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    Estimulo para criação de rotina de exercicio fisico, criação de habito para atividade fisica.A adoção de um estilo de vida ativo por parte da pessoa idosa, proporciona diversos benefícios à saúde, uma vez que é considerado como um importante componente para a melhoria da qualidade de vida e da independência funcional do idoso. Comprovadamente a prática regular de atividades físicas contribuem não somente para a qualidade de vida dos idosos, como pode proporcionar melhora em quadros de depressão, contribui para melhora da cognição e pode favorecer ainda as relações sociais. Sendo assim, esta atividade tem o objetivo de contribuir com a educação em saúde, buscando incentivar a criação de uma rotina de exercícios benéficos à saúde da pessoa idosa, demonstrando a importância da criação de hábitos relativos à prática de atividades físicas e o cuidado com a própria saúde

    Lazer da pessoa idosa

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    Trata-se de dinamica para estimulo do lazer da pessoa idosa, apresentando os locais que disponibilizam atividades na área de abrangencia da Unidade de Saúde Ouvidor Pardinho. As contribuições dessa atividade para os idosos é de que eles consigam identificar dentro do seu território atividades tanto do lazer na esfera privada como pública e também reconhecer e identificar os seus direitos.Trata-se de dinamica para estimulo do lazer da pessoa idosa, apresentando os locais que disponibilizam atividades na área de abrangencia da Unidade de Saúde Ouvidor Pardinh
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