639 resultados para Amaurose congénita de Leber


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Toxoplasmosis, provoked by the intracellular parasite Toxoplasma gondii, is one of the most prevalent parasitoses in the world. In humans, transmission occurs by three evolutionary forms of the parasite: oocysts, tissue cysts and tachyzoites. Wild and domestic felines are definitive hosts. The ocular form of toxoplasmosis can be of congenital origin with early or late clinical manifestations, or acquired after birth. T. gondii is considered the main culprit for most cases of infectious uveitis. This study aimed at assessing ocular toxoplasmosis, relating it to factors associated to the patient s lifestyle and describing the epidemic-serological and clinical profile of affected individuals. A cross-sectional study was conducted with a population of 159 patients. Univariate analysis (odds ratio) was used to evaluate the data, with a confidence interval of 95% and p-value < 0.05. A prevalence of 4% of ocular toxoplasmosis was observed in the population of patients treated at an ophthalmological clinic. Of patients directly examined by immunoenzymatic assay (MEIA-AxSYM®- Microparticle Enzyme Immune Assay), considering only uveitis, a frequency of anti-T. gondii of 73%, most of whom exhibited titulation between 40-99 UI IgG/mL. With respect to location of ocular lesions, bilaterality was observed in 57% of patients assessed by the ophthalmoscopy technique. When compared with the results of an active search of medical records, a similarity in ocular toxoplasmosis (74%) and bilateral lesion location (55%) was observed. Type I lesion was the most frequent type observed, with intraocular disposition in the macula. An epidemiological survey revealed that direct contact with cats; consuming raw or poorly cooked meat and direct contact with the soil were significantly associated with greater likelihood of acquiring ocular toxoplasmosis. Sample characterization in relation to age range was significant for patients between 31 and 40 years [χ², chi-square test (p = 0.04)], but population traits such as schooling, sanitary district, and monthly income were not significant. Results confirm that ocular toxoplasmosis is widely distributed in the metropolitan area of Natal, Brazil, with significant prevalence of ocular lesions provoked by T.gondii. It is suggested that sanitary authorities exert greater control in order to minimize the risk of toxoplasmic infection, mainly in pregnant women.

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Toxoplasmosis, a benign disease in normal healthy individuals, can have serious effects in pregnant women and immunocompromised patients. It is a parasitic disease caused by Toxoplasma gondii (Tg), an obligatory intracellular protozoan. The prophylactic and therapeutic arsenal against this parasite is very restricted. Thus, there is an ongoing search for novel drugs and therapeutic strategies. A promising alternative is a rational approach using medicinal plants. This study aimed to standardize methodologies for assessing the toxicological, antiproliferative, antioxidant, antiinflammatory and anti-Toxoplasma effects of Estragole and Thymol compounds isolated from species of plants (Lippia sidoides and Croton zenhtneri) commonly used in the Cariri region of Ceara State, Brazil. First we evaluated in vivo toxicity and conducted a pathological analysis of mice livers. In vivo antiinflammatory activity was assessed using air pouch and paw edema methods. Cytotoxicity assays were performed and antiproliferative, antioxidant and nitric oxide production analyzed. Anti-Toxoplasma activity was evaluated in a congenital experimental model with varying stages of maternal infection using the ME-49 strain and a non- congenital model by using ME-49 and RH strains. The results suggest low to moderate toxicity for both compounds. Thymol was more toxic in vivo and in vitro, having greater pathological repercussion than Estragole. The compounds were inactive for antiproliferative activity. Thymol showed better antioxidant activity, while Estragole stimulated nitric oxide production in macrophages. Both showed significant antiinflammatory activity. In non-congenital Tg infection, both compounds were active only against the ME49 strain. In congenital infection, Estragole (oral route) improved the newborn weight of infected mothers compared with untreated controls. Subcutaneous administration of the two compounds increased the weight of offspring born to infected mothers compared with untreated controls. We concluded that Estragole and Thymol exhibit important biological and anti-Toxoplasma activities. Further studies are needed to elucidate the mechanism of action of these compounds and other possible activities not investigated in the present study

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A Síndrome de Berardinelli-Seip (SBS) ou Lipodistrofia Generalizada Congênita acomete freqüentemente o aparelho cardiovascular e também promove anormalidades metabólicas envolvendo os metabolismos glicídico e lipídico. O objetivo do nosso trabalho foi avaliar a prevalência das anormalidades cardiovasculares e metabólicas em portadores da SBS. Vinte e dois pacientes do estado do Rio Grande do Norte (Brasil), com diagnóstico da SBS, foram submetidos à avaliação clinica, eletrocardiograma de repouso, ecodopplercardiograma, radiografia de tórax, eletrocardiografia dinâmica de 24 horas, teste ergométrico e análise laboratorial. Os pacientes eram predominantemente adultos jovens (n=22) , sendo 14 do sexo feminino. O mais novo tinha 8 e o mais velho 44 anos(22,4±9,7 anos). A totalidade da amostra apresentou resistência à insulina, acanthosis nigricans e HDL-colesterol diminuído. A presença de esplenomegalia, hepatomegalia, diabetes mellitus tipo II e triglicérides elevados eram constantes. A síndrome metabólica foi caracterizada em 81,8% dos pacientes com predominância para sexo feminino e com um alto grau de consangüinidade paterna (86,4%). A hipertensão arterial sistêmica e pré-hipertensão foram encontradas em mais da metade dos pacientes (77.3%). O eletrocardiograma e a radiografia de tórax não foram úteis para identificar a presença de anormalidades cardíacas na SBS, em particular a presença de hipertrofia ventricular esquerda. Para identificar o acometimento cardiovascular foi indispensável o estudo ecodopplercardiografico. Este exame mostrou a presença de hipertrofia concêntrica do ventrículo esquerdo (50%), hipertrofia excêntrica do ventrículo esquerdo (4,5%) e geometria normal do ventrículo esquerdo (45,5%). Disfunção sistólica do ventrículo esquerdo foi encontrada em apenas um paciente (4,5%) e disfunção diastólica em nenhum. Elevada taxa de arritmia foi evidenciada no Holter, tais como, extra-sístoles ventriculares, extra-sístoles supraventriculares e taquicardia supraventricular sustentada. Incompetência cronotrópica (54,5%) foi observada no teste ergométrico. Anormalidades cardiovasculares e metabólicas foram encontradas em elevada prevalência em indivíduos jovens e assintomáticos com SBS. Esses achados xii apontam para a necessidade de acompanhamento cardiológico sistemático e de medidas preventivas nesse grupo de risco

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Conselho Nacional de Desenvolvimento Científico e Tecnológico

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Dois casos de displasia da valva tricúspide são relatados neste trabalho. Os cães foram avaliados devido à fraqueza e presença de ascite. em ambos os casos, o exame ecocardiográfico mostrou insuficiência tricúspide e, em um deles, a inserção dos folhetos da valva tricúspide encontrava-se deslocada para baixo do ventrículo direito, caracterizando a anomalia de Ebstein. A terapia medicamentosa para insuficiência cardíaca congestiva foi iniciada, mas um dos animais veio a óbito subitamente alguns dias após o diagnóstico. O outro cão, apesar de inicialmente ter apresentado melhora significativa do quadro clínico, apresentou morte súbita. A necropsia dos animais revelou dilatação atrioventricular direita e folhetos tricúspides espessados. As características clínicas, métodos de diagnóstico e terapia medicamentosa são discutidas neste artigo.

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The scope of this study directs an investigation in search of how the blind person learns knowledge at school mediated by the image in context of an inclusive education and how it can be (or is) triggered by the adaptation of images to the tactile seizure of the blind person and his correlative process of reading. To achieve this intent we choose a qualitative approach of research and opted for the modality of case study, based on the empirical field of a public school in the city of Cruzeta, RN and as a the main subject a congenitally blind female student enrolled in high school there, focusing, often, on the discipline of geography in its words mapping. Our procedures for construction of data are directly involved to the documentary analysis of open reflective interview and observation. The base guiding theory of our assessments is located in the current understanding about the human psychological development of its educational process inside an inclusive perspective, of contemporary conceptions about the visual disability as well of image as a cultural product. Accordingly, the human person is a concrete subject, whose development is deeply marked by the culture, historically built by human society. This subject regardless of his specific features, grasping the world in an interactive and immediate way, internalising and producing culture. In this thinking, we believe that the blind person perceives in multiple senses the stimuli of his environment and acts in the world toward his integration into the social environment. The image as a product of culture, historically and socially determined, appears as a sign conventionally used as an icon that in itself concentrates knowledge of which the student who does not realize visually himself and his surroundings cannot be excluded. In this direction, the inclusive educational process must build conditions of access to knowledge for all students without distinction, including access to the interpretation of the images originally intended for the seizure strictly visual to other perceptive models. Based in this theory and adopting principles of content analysis, we circulated inside the interpretation of the data constructed from the analysis of documents, from the subject speeches, from records of the observation made in the classroom and other notes of the field daily. In the search for pictures on the school contents, adapted to the tactile seizure of blind student, was seen little and not systematic in practice and teaching at the school. It showed us the itinerary of the student life marked by a succession of supports, most of the time inappropriate and pioneers in cooling the construction of her autonomy. It also showed us the tensions and contradictions of a school environment, supposedly inclusive, that stumbles in search of its intent, in the attitudinal and cumulative barriers brought, because of its aggravating maintenance. These findings arose of crossing data around of a categorization that gives importance to 1) Concepts regarding the school inclusion, 2) Elements of the school organization, educational proposal and teaching practice, 3) Meaning of the visual image as the object of knowledge, 4) Perception in multiple senses and 5) Development and learning of the blind person before impositions of the social environment. In light of these findings we infer that it must be guaranteed to the disabled person removal of the attitudinal barriers that are against his full development and the construction of his autonomy. In that sense, should be given opportunity to the student with visual disability, similarly to all students, not only access to school, but also the dynamics of a school life efficient, that means the seizure of knowledge in all its modalities, including the imagery. To that end, there is a need of the continued training of teachers, construction of a support network in response to all needs of students, and the opportunity to development of reading skills beyond a perspective eminently focused in the sight

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Background: Down syndrome (DS) is a genetic alteration characterized by being a nonprogressive congenital encephalopathy. Children with DS have hypotonia and developmental delays that interfere in the movement`s acquisition for these children. Objective: Analyze the effects of treadmill inclination on angle and spatiotemporal gait characteristics of these individuals. Methodology: We studied 23 subjects of both sexes, with ages ranged between 05 and 11 years, they presented ability to walk on level 5 classified according to the Functional Ambulation Category (FAC). Initially held a subjective evaluation of balance through a questionnaire (Berg Balance Scale-BBS) then the kinematic gait analysis was realized on a treadmill first, without inclination and then, with inclination of 10%, using the motion system analysis Qualisys System. Data analysis was done using BioStat 5.0 attributing significance level of 5%. Normality of data was verified using D'Agostino test and later was applied paired t-test to compare data in two experimental conditions. Results: There was a statistically significant difference in the spatiotemporal variables: reduction in the cadence (from 108.92 ± 39.07 to 99.11 ± 27.51, p <0.04), increase in cycle time (from 1.24 ± 0.27 to 1.36 ± 0.34, p = 0.03 ) and increase in time to take stock (from 0.77 ± 0.15 to 0.82 ± 0.18, p <0.001). Angular variables that showed statistically significant increasing were: the hip in the initial contact (12.23 ± 4.63 to 18.49 ± 5.17, p <0.0001) and max. flexion in balance (12.96±4:32 to 19.50 ± 4.51, p <0.0001 ), knee in the initial contact (15.59 to ± 6.71 to 21.63 ± 6.48, p <0.0001), the ankle in the initial contact (-2.79 ± 9.8 to 2.25 ± 8.79, p <0.0001), max dorsiflexion in stance (4.41 ± 10.07 to 7.13 ± 11.58, p <0.0009), maximum plantar flexion in the pre-assessment of the ankle joint (increase of -6.33 ± 8.77 to -2.69 ± 8.62, p <0.0004).Conclusions: The inclination acts in a positive way for angular and spatiotemporal features gait of children with Down syndrome, demonstrating possible benefit of using this surface in the gait rehabilitation of children with Down Syndrome

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Criança de 6 anos de idade, sexo feminino, procurou serviço médico devido a mal-formação gastrointestinal. Durante o acompanhamento médico, foi diagnosticada ausência parcial de veia cava inferior, alteração congênita rara que envolve a drenagem vascular do segmento inferior do corpo. Realizados exames de imagem, os quais contribuíram para avaliação e descrição do caso. Mantido tratamento conservador com anticoagulante oral. Paciente apresenta boa evolução após longo tempo de acompanhamento cardiovascular.

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Objetivos: avaliar a evolução ultra-sonográfica de cistos subependimários (CSE) do ângulo externo dos ventrículos laterais, e a evolução clínica dos pacientes. Comparar os pacientes com CSE isolados e os com CSE associados a outras lesões. Métodos: foram diagnosticados um a vários cistos no ângulo externo de um ou de ambos os ventrículos laterais, por meio de ultra-som transfontanelar (US) de rotina, realizado nos primeiros dias de vida, caracterizando os CSE. Durante o período de 1981-2000, 66 recém-nascidos tiveram CSE evidenciados na UTI neonatal do Hospital de Port-Royal. Foram constituídos dois grupos: G-I, com CSE isolados (n=21), e G-II, com CSE associados a outras lesões (n=45). Resultados: os recém-nascidos do GI apresentaram maior maturidade, melhores condições de nascimento e menor morbidade respiratória em relação a GII. A incidência de malformações congênitas foi elevada em ambos os grupos. Houve baixa taxa de infecção bacteriana e ausência de infecção congênita. Os CSE foram uni ou bilaterais, únicos ou múltiplos (colar de pérolas), sem diferença entre os grupos estudados, e predominaram à esquerda. US seriados foram realizados em 49/66 pacientes (74%), mostrando aumento no tamanho do cisto em 21/49 (45%), no primeiro mês de vida, enquanto 12 CSE (24%) desapareceram. O óbito ocorreu em dez recém-nascidos com lesões neurológica graves (quatro leucomalácias periventriculares, cinco hemorragias peri e intraventriculares), e somente um com hérnia diafragmática não apresentava outras lesões ao US transfontanelar. Conclusões: as características dos CSE não diferiram quando esses estavam associados a outras lesões. O nítido predomínio no lado esquerdo sugere uma etiologia vascular. Foi encontrada uma alta taxa de malformações associadas, alertando para a possibilidade de uma etiologia malformativa. Ambas hipóteses sugerem um desvio de desenvolvimento, e não de uma fetopatia viral.

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Congenital Toxoplasmosis results in severe systemic disease. If mother is infected for the first time during gestation, she can infect the fetus causing substantial damage. However, relatively little is known about the seroprevalence and epidemiological and economic factors of Toxoplasmosis infection in pregnancy in the most state in northeastern Brazil and knowledge about this can be essential in determining effective and acceptable prevention strategies. Our aim was to determine the prevalence of Toxoplasmosis in pregnant woman consulted by reference Maternity Escola Januário Cicco in Natal, a city in Northeastern Brazil, which belongs to the public health system, correlating to the risk factors involved in the infection and to accomplish active Search in the Hospital of Pediatrics Profº Heriberto Bezerra of the damages caused by the Toxoplasmic infection in children up to 12 years of age. The study was conducted from March to December 2007 and sera obtained from 190 pregnant women were tested for IgM and IgG antibodies avidity to Toxoplasma by Microparticle enzyme immunoassay (Abbott AxSYM system - Abbott Laboratories, Chicago, IL, USA). Data were examined with univariate analysis. Chi-squared (x2) and Odds ratio was calculated (IC 95% p 0,05). Of these women, 126 (66,3%) had only IgG antibodies high-avidity against T. gondii; 01 (0,52%) had a IgM and IgG high-avidity antibodies against T. gondii and 63 (33,1%) have neither IgM nor IgG against T. gondii. Our studies shown that the direct contact with cats or dogs was highly associated with the Toxoplasma gondii infection (OR, 2.72, p<0.001, 95% CI 1.46 5.02). The years school (p<0,001), socioeconomic status and knowledge about the disease (both p value 0.05) also were associated with Toxoplasmosis. The pattern of risk factors for infection presents regional variations, however our data corroborate others studies in Brazil. In children up to 12 years, one case of Congenital Toxoplasmosis was just registered in seven years (2000 - 2006). There were several suggestive cases, with signs and characteristic symptoms, but that the infection was not confirmed due to lack in the researches through laboratorial and images exams that addressed that it zoonosis

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A síndrome de Rothmund-Thomson é distúrbio autossômico recessivo de expressividade variável associado a mutações do gene RecQL4. Caracteriza-se por poiquilodermia, alopecia, defeitos de crescimento e desenvolvimento, catarata juvenil, alterações dentárias e esqueléticas e predisposição ao câncer cutâneo e ao osteossarcoma. Relata-se caso de paciente de 29 anos de idade com lesões cutâneas desde a infância, catarata bilateral antes dos 20 anos e carcinoma espinocelular aos 26 anos de idade.

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The Syndrome of Berardinelli or Congenital Generalized Lipodystrophy, known popularly in Seridó as "The Magicians", it is considered in the world as a rare syndrome and of few studies. In Rio Grande do Norte, specifically, in the Area of Seridó, an important incidence of bearers was verified. Face to present subject, this work describes in beginning the origin and evolution of the referred syndrome, standing out the genealogy of the families of the bearers in the temporary cutting that dates of the beginning of the century XIX to the current days and, later, it s has as purpose to justify the territorialities and the imaginary of the Syndrome and Berardinelli starting from the lived experiences, of the conidian and of the social practices. That implicates to verify as those people they fragmented certain places, like them they noticed her and they were noticed by the society. The methodological approach for the accomplishment of that research is of qualitative order in a perspective phenomenological, ethnography and historical, once the analysis is not just ruled in the product, but it takes in consideration the life history. The analysis presents the way as the depositions they make sense in the context of the study of the genealogy, of the perception imagery of the society before them and the image constituted by them, of himself and of the other. The data, still, demonstrate that the a lot of people's existence with to Syndrome in Seridó happens due to the consanguinities among the families

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OBJETIVO: Avaliar as indicações, resultados e complicações advindas do seu uso. MÉTODOS: Avaliaram-se retrospectivamente 25 pacientes submetidos a 27 conjuntivorrinostomias com colocação de tubo de Lester-Jones. Foram estudados os dados do portador, a etiologia da afecção e as complicações que ocorreram no intra e no pós-operatório. Os dados foram avaliados segundo a freqüência de ocorrência. RESULTADOS: O tubo de Lester-Jones foi usado igualmente em ambos os sexos, mais em indivíduos abaixo dos 10 ou acima dos 50 anos de idade. As causas mais freqüentes para utilização foram a idiopática ou a agenesia congênita de pontos e canalículos. Houve melhora dos sintomas em 88% dos pacientes. Complicações ocorreram em 59,25% dos casos, dentre as quais: extrusão (40,74%) e a migração (14,8%) do tubo. CONCLUSÃO: Apesar das complicações observadas, o índice de cura com a utilização do tubo de Lester-Jones é alto, sendo boa opção para o tratamento das obstruções lacrimais altas.

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OBJETIVOS: Traçar o perfil do usuário da Sala de Recursos para Deficiente Visual na cidade de Assis - SP, avaliar a porcentagem de deficientes visuais empregados e comparar o emprego com idade, gênero, tipo de deficiência e doença causadora da deficiência, entre dois períodos: de 1984 a 1996 e de 1997 a 2009. MÉTODOS: Foi realizado estudo retrospectivo dos prontuários médicos e da ficha escolar dos portadores de deficiência visual que frequentaram a Sala de Recursos para Deficiente Visual, no período de 1984 a 2009 na cidade de Assis - SP, divididos em dois períodos de 1984 a 1996 (G1) e de 1997 a 2009 (G2). Analisaram-se dados demográficos, a doença que provocou a baixa visão, o tipo de deficiência visual (cegueira ou baixa visão), escolaridade, recursos ópticos, frequência à Sala de Recursos para Deficiente Visual e taxa de emprego. Foi feita associação da taxa de emprego com: idade, gênero, raça/cor, tipo de deficiência e doença nos dois diferentes períodos. RESULTADOS: Foram encontrados 149 deficientes visuais sendo: 61,07% homens, 38,9% mulheres, 82,5% brancos e 17,4% não brancos e a mediana da idade foi de 18 anos. Dos 149 deficientes visuais, 63,75% eram portadores de baixa visão e 36,24% portadores de cegueira. As principais doenças que levaram à deficiência visual dos 149 pacientes foram em ordem decrescente: retinocoroidite por toxoplasmose (17,40%), atrofia óptica congênita (12,10%), alta hipermetropia (8,72%), retinose pigmentar e alta miopia (6,71% cada uma) e glaucoma congênito e catarata congênita (6,04% cada uma). A frequência à Sala de Recursos para Deficiente Visual foi boa em mais de 50% dos pacientes. Estavam trabalhando regularmente 44,7% e 12,3% dos maiores de 14 anos respectivamente nos períodos de 1984 - 1996 e de 1997 - 2009. Não houve diferença entre os dois períodos quanto às características demográficas, tipo de deficiência e doenças, havendo correlação da taxa de emprego apenas com a idade (pacientes com média de idade maior apresentavam maior porcentagem de emprego). CONCLUSÕES: Os deficientes visuais eram na maioria homens, brancos, portadores de baixa visão e portadores de toxoplasmose ocular. Quase metade (44,7%) dos pacientes com mais de 14 anos encontrava-se trabalhando regularmente até 1996 sugerindo que esforços conjuntos de oftalmologistas e educadores auxilia na inclusão social destes pacientes. A taxa de emprego caiu no período de 1997 a 2009 e a de aposentados aumentou.

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A linfoangiomatose é uma doença rara, caracterizada pela exarcebação da proliferação dos canais linfáticos, ocorrendo em crianças e adultos jovens. Nós descrevemos um caso extremamente raro de linfoangiomatose sistêmica congênita, em um recém-nascido que apresentava ascite e insuficiência respiratória, desenvolvidos imediatamente após o nascimento. O óbito ocorreu nas primeiras horas de vida. Achados de autópsia demonstraram numerosos cistos em tecido mole da região cervical, mediastino, diafragma, e em diversos outros órgãos incluindo: fígado, baço, tireóide e rins. O grave e difuso acometimento de cistos nos pulmões pela linfoangiomatose foi associado ao mau prognóstico e morte no caso relatado.