Molecular analysis of patients suspected of Fragile X Syndrome.

The aim of this study was to validate the molecular genetic diagnosis of patients suspected of Fragile X Syndrome (FXS) in the Laboratory of Human Cytogenetics and Molecular Genetics (LaGene) of the Department of Health of the State of Goiás, using polymerase chain reaction (PCR). Thirty-five patients referred by public health doctors to LaGene, indicating clinical diagnosis of FXS, were selected for this study. Two PCR analyses were performed using different primers, one for screening (PCR-T) and one for the detection of the pre-mutation (PCR-P). The products of both PCRs were subjected to polyacrylamide gel electrophoresis and then coloring. The visualization of amplicons was performed with the aid of an ultraviolet transilluminator. The diagnosis was confirmed in 88% of patients with PCR-T and 100% with PCR-P. The primer used in PCR-P was found to be more sensitive and specific, allowing to identify the mutation in the samples, generating a more conclusive case for FXS, noting that the PCR-T is also required for the pre-classification of patients. Generally, the PCR technique is cheaper and easier to handle; therefore, we suggest the implementation of PCR in the genetics laboratory of the State of Goiás (LaGene) for the diagnosis of FXS.

High-voltage electrical burn injuries: functional upper extremity assessment.

High-voltage electric injuries have many manifestations, and an important complication is the damage of the central/peripheral nervous system. The purpose of this work was to assess the upper limb dysfunction in patients injured by high-voltage current. The evaluation consisted of analysis of patients' records, cutaneous-sensibility threshold, handgrip and pinch strength and a specific questionnaire about upper limb dysfunctions (DASH) in 18 subjects. All subjects were men; the average age at the time of the injury was 38 years. Of these, 72% changed job/retired after the injury. The current entrance was the hand in 94% and grounding in the lower limb in 78%. The average burned surface area (BSA) was 8.6%. The handgrip strength of the injured limb was reduced (p<0.05) and so also that of the three pinch types. The relationship between the handgrip strength and the DASH was statistically significant (p<0.001) as well as the relationship between the three pinch types (p

Body image of patients with burns sequellae: evaluation through the critical incident technique.

The present investigation is a descriptive study, with a retrospective, ex-post facto, design. The objectives of this study were to characterize the body image changes in patients with burn sequellae, through the critical incident technique and to identify and categorize critical incidents, comparing them to the characteristics defined by the Taxonomy of the North American Nursing Diagnoses Association (NANDA) for the body image disturbance nursing diagnosis. Thirty-five patients were interviewed. Two types of critical incidents were identified: 'facing the mirror'--the moment the patient looks at himself/herself and notices the changes in his/her body, and 'facing other people'--the moment the patient becomes aware that he/she calls the attention of others. Associated with the perceptions of changes in their bodies, the patients reported feelings of fear (19), rebellion (18) and shame (12). They also presented coping mechanisms of denial (12), rationalization (7), minimization (7) and repression (2). NANDA's body image disturbance diagnosis was identified in all patients.

[The Fundacao Oswaldo Cruz's Scientific Vocation Program (Provoc) as a valuable educational strategy]. / O Programa de Vocacao Cientifica de Fundacao Oswaldo Cruz (Provoc) come estrategia educacional relevante.

The velocity and variety of scientific and technological advances have brought substantial changes to the processes of goods production and of social relations. A concern that inevitably arises within this context is the urgent need to train professionals to work in fields related to science and technology, especially in countries on the so-called periphery, where the quantitative growth of the universe of researchers is fundamental to competing on the world market. Since 1986, the Fundacao Oswaldo Cruz (Fiocruz) has been introducing students to the study of biomedical science through its Scientific Vocation Program (Provoc). The article examines this experience based on the results of a study conducted among high school student participants in Provoc. Placing the issue within the context of Brazilian reality, the article concludes by recommending that Provoc be intensified and expanded to include other areas of knowledge, in view of the program's excellent results in identifying and encouraging students with talents in the biomedical area.

Anatomy of the median part of the septum depressor muscle in aesthetic surgery.

When a person smiles and talks, everyone in his or her own specific way, it can be noticed that the tip of the nose drops and the upper lip shortens, making the nasolabial angle more acute. The importance of the upper lip in the dynamics of the nose makes necessary a more detailed study of the morphology and anatomical relations of the median part of the nasal septum depressor muscle, contributing in this way to new techniques in plastic surgery. The authors proposed to study the anatomy of the nasal septum depressor muscle and its relationship with the dermocartilaginous ligament of Pitanguy and the upper lip, important components of the nasal dynamics of facial expression. In this way they seek to contribute to the treatment of the nasal tip in aesthetic rhinoplasties.

Ceensp: Controle do Tabagismo: interferência na liberdade? - O Fumante

A primeira abordagem da tarde foi em relação ao perfil dos fumantes brasileiros: "Quem são? O que pensam sobre as políticas? Sentem-se cerceados na sua liberdade? Apoiam essas políticas?", questionou Vera Luiza. Paula Johns afirmou possuir algumas indicações sobre o que pensa o público fumante e não fumante, por meio de pesquisas de opinião realizadas pelo Instituto Datafolha. De acordo com ela, em linhas gerais, as principais políticas públicas propostas pelo governo têm amplo apoio da população, inclusive dos fumantes. Com relação aos ambientes livres do fumo, a palestrante informou que 85% dos fumantes aprovam a resolução, enquanto 88% da população não fumante é a favor. "Nos estados em que a lei foi implementada, como em São Paulo, por exemplo, o apoio da sociedade é superior a 90%. Essas pesquisas dão uma dica do que a população pensa e demonstram apoio às políticas". Tânia Cavalcante complementou revelando que cerca de 80% dos fumantes brasileiros iniciam o hábito na adolescência, influenciados pelo mercado publicitário. Boa parte deles afirma querer parar de fumar, mas apenas 3% conseguem. O ex-ministro da saúde, Agenor Álvares, ressaltou a importância do debate sobre o tabaco ser realizado na academia. Em relação ao fumante, ele afirma que se trata de uma pessoa doente, dependente, que precisa de ajuda do Estado: "O país deve auxiliar quem pretende deixar de fumar. Assim como já incentivou algumas questões, é sua obrigação deixar claro para a população que ela tem o direito de se tratar, além de fornecer os meios para isso". Arquivo disponível para leitura e/ou download no ícone ao lado.

Ceensp: Mesa Nacional de Negociação Permanente do SUS: conquistas e perspectivas - debate

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