Sulfite Oxidase Deficiency – An Unusual Late and Mild Presentation

Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. Most patients develop dislocated ocular lenses. Later or milder presentations of SOD are being reported with increasing frequency. These presentations include neurological regression with loss of previously acquired milestones or movement disorders. Case report: We report a four years old girl presenting with intermittent ataxia and uncoordinated limb movements. A similar episode of ataxia had occurred previously, one year before, with complete neurologic recovery and normal developmental milestones. Bilateral lens dislocation had been recently diagnosed. Cranial MRI demonstrated bilateral globus pallidus enhancement. Low homocysteine was found in plasma and SulfitestR was positive. Further investigations led to confirmation of isolated sulfite oxidase deficiency with no enzyme activity detected on skin fibroblasts culture. Discussion: This case illustrates the clinical variability of SOD and it is not only atypical but also seems to be the mildest form described so far. The association of ectopia lentis with a movement disorder, even without psychomotor regression, should prompt us to look for this diagnosis.

Culture boundaries in semantic web

Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.

IDENTIFICATION OF CANINE VISCERAL LEISHMANIASIS IN A PREVIOUSLY UNAFFECTED AREA BY CONVENTIONAL DIAGNOSTIC TECHNIQUES AND CELL-BLOCK FIXATION

After the report of a second case of canine visceral leishmaniasis (CVL) in São Bento da Lagoa, Itaipuaçu, in the municipality of Maricá, Rio de Janeiro State, an epidemiological survey was carried out, through active search, totaling 145 dogs. Indirect immunofluorescence assay (IFA), enzyme-linked immunosorbent assay (ELISA), and rapid chromatographic immunoassay based on dual-path platform (DPP(r)) were used to perform the serological examinations. The parasitological diagnosis of cutaneous fragments was performed by parasitological culture, histopathology, and immunohistochemistry. In the serological assessment, 21 dogs were seropositive by IFA, 17 by ELISA, and 11 by DPP(r), with sensitivity of 66.7%, 66.7% and 50%, and specificity of 87.2%, 90.2% and 94%, respectively for each technique. The immunohistochemistry of bone marrow using the cell-block technique presented the best results, with six positive dogs found, three of which tested negative by the other parasitological techniques. Leishmania sp. was isolated by parasitological culture in three dogs. The detection of autochthonous Leishmania infantum in Itaipuaçu, and the high prevalence of seropositive dogs confirm the circulation of this parasite in the study area and alert for the risk of expansion in the State of Rio de Janeiro.

The avirulence of the cultivated PF strain of Trypanosoma cruzi: V - the evaluation of parasitologic tests after vaccination of different animal species

After vaccination with the live PF strain of Trypanosoma cruzi, 194 blood cultures were performed in 143 mice, 9 dogs, 5 Cebus monkeys and 7 human subjects. Some of these blood cultures were simultaneously done with xenodiagnosis, subinoculation in baby mice and/or culture of viscerae. The trypanosomes isolated from the few positive cases (6,1%) were incapable of infecting baby mice were considered as cases of immunotolerance. All the other tests were negative.

Organizational culture influence on information quality - use of business intelligence systems relationship: portuguese context

Dissertação apresentada como requisito parcial para obtenção do grau de Mestre em Estatística e Gestão de Informação

A systems biology framework for pathway level culture media engineering: pplication to Pichia pastoris cultures

Dissertação para obtenção do Grau de Doutor em Engenharia Química e Bioquímica

The Visual Culture of Human Rights. Observations on Amnesty International

Trabalho de project de Mestrado em Antropologia de Direitos Humanos e Movimentos Sociais

A cultura de segurança do doente em alunos do 4º ano dos cursos de tecnologias da saúde

RESUMO - O presente trabalho pretende estudar a cultura de segurança de doente em alunos do ensino superior, na área das tecnologias de diagnóstico e terapêutica. Esta problemática não tem sido abordada pela comunidade científica, pelo que o seu estudo é relevante. Os alunos que finalizam a licenciatura estão legalmente autorizados para intervir perante o doente, contudo, a sensibilidade que têm para as questões da segurança do doente deve ser analisada com o intuito de melhorar a sua preparação como futuros profissionais de saúde. Neste estudo participaram 180 alunos estratificados consoante o curso e sexo de modo a obter uma amostra representativa da população alvo. Foi constituído um questionário com 31 itens numa escala dicotómica que avaliam a cultura de segurança do doente em 7 dimensões – liderança, trabalho de equipa, a prática baseada na evidência científica, a comunicação, a aprendizagem, a justiça, e a prática clínica centrada no doente. Pode igualmente compor-se uma medida global de cultura de segurança do doente através do somatório das 7 dimensões. Os resultados evidenciam a existência de uma correlação positiva moderada entre as dimensões – Trabalho em equipa (0,660); Liderança (0,610); Prática baseada na evidência científica (0,627); Ambiente justo (0,570); Comunicação (0,501) e o Total.

Positive effects of strategic corporate social responsibility

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

Insulin reduces the requirement for serum in Plasmodium falciparum culture

Insulin added to Plasmodium falciparum cultures (0.2 IU/ml) reduced the requirement for human serum from ten to five percent. This represents an obvious advantage by its serum-sparing effect and by reducing the chances of using contaminated serum in cultures. The growth-promoting ability of insulin was observed eitherin culture- adapted P. falciparum or in newly-isolated samples.

How to attract central and Northeneuropeans to a rural tourism establishment in the center of Portugal

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

Gas emissions on rice culture and its importance on air quality

Dissertação para obtenção do Grau de Mestre em Engenharia do Ambiente Perfil Gestão de Sistemas Ambientais

Parasitological diagnosis of mucocutaneous leishmaniasis due to Leishmania b. braziliensis in Bolivia

Parasitological diagnosis, using staned smears, culture and pathological examination of biopsy, was studied in 146 patients infected with mucocutaneous leishmaniasis, in Bolivia and Peru. The most efficient parasite detecting technique appeared to be the smear examination in cutaneous lesions (33 % positive) and the pathology in case of mucous lesions (28 % positive). In both, cutaneous and mucous lesions, the parasites were found most frequently in old lesions.

Evaluation of a direct immunofluorescent antibody (difma) test using Leishmania genus - specific monoclonal antibody in the routine diagnosis of cutaneous leishmaniasis

A direct immunofluorescent antibody (DIFMA) test using a Leishmania genus- specific monoclonal antibody was evaluated in the routine diagnosis of cutaneous leishmaniasis (CL) in Ecuador. This test was compared with the standard diagnostic techniques of scrapings, culture and histology. Diagnostic samples were taken from a total of 90 active dermal ulcers from patients from areas of Ecuador known to be endemic for cutaneous leishmaniasis. DIFMA was positive in all lesions. It was shown to be significantly superior to standard diagnostic methods either alone or in combination. The sensitivity of DIFMA did not diminish with chronicity of lesions. This test proved to be extremely useful in the routine diagnosis of CL because it is highly sensitive, is easy to use and produces rapid results.