Consanguinidade e efeito fundador da mutação G377S da doença de Gaucher em população de Tabuleiro do Norte – Ceará – Brasil

Gaucher’s disease (GD) is caused by a β-glucocerebrosidase deficiency, leading to the accumulation of glucocerebroside in the reticuloendothelial system. The prevalence of GD in Tabuleiro do Norte (TN) (1:4000) is the highest in Brazil. The purpose of this study was to present evidence of consanguinity and founder effect for the G377S mutation (c.1246G>A) among GD patients in TN based on enzyme, molecular and genealogical studies. Between March 2009 and December 2010, 131 subjects at risk for GD (GC in dried blood ≤2.19 nmol/h/ml) and 5 confirmed GD patients from the same community were submitted for molecular analysis to characterize the genetic profile of the population. Based on the enzymatic and molecular analysis, the subjects were classified into three categories: affected (n=5), carrier (n=20) and non-carrier (n=111). All carriers were (G377S/wt). Affected subjects were homozygous (G377S/G377S). The identification of a single mutation in carriers and homozygotes from different generations, the history of the community and the genealogy study suggest that the high prevalence of GD in this population may be due to a combination of consanguinity and founder effect for the G377S mutation

Conhecimento da doença renal crônica entre médicos conforme as diretrizes práticas

INTRODUCTION: Chronic kidney disease (CKD) is a global health problem, with increasing prevalence in its terminal stage and one of the factors that can contribute is the failure to recognize the disease and its risk factors. OBJECTIVE: To evaluate the knowledge of medical residents (MR) and medical preceptors (MP) in hospitals in the Federal University of Rio Grande do Norte in Natal-RN - Brazil, on the DRC, based on the policy of the Kidney Disease Improving Global Outcomes (KDIGO ). METHODS: Cross-sectional study where 64 MR (R1 = 32; R2 = 15; R3 = 17) and 63 MP answered a questionnaire divided into seven sessions that addressed aspects of the DRC since the setting up referral to a nephrologist. RESULTS: Only 20 participants (15.7%) reported using any guidelines for the management of CKD. The scores obtained by session were: Definition and classification (46.1 ± 47.8); Risk factors (70.5 ± 27.9); Laboratory evaluation (58.2 ± 8.8); Clinical action plan (57.6 ± 19.9); Reduction in proteinuria (68.3 ± 15.0); Complications (64.8 ± 19.9); Referral to a nephrologist (73.0 ± 44.6). There was a statistically significant difference between the knowledge of MR and MP in the sessions: Laboratory evaluation (MR 61.5 ± 8.4 vs 54.8 ± 7.9 MP; p <0.001); Reduction in proteinuria (73.1 ± 11.4 vs MR MP 63.5 ± 16.7; p <0.001) and Referral to a nephrologist (MR 81.2 ± 39.3 vs 64.5 ± 48.2 MP; p = 0.035). Among the MR, the R2 obtained the best score (63.9 ± 22.6 vs R1 R2 R3 71.9 ± 17.2 vs 63.5 ± 22.5, p = 0.445). It identified a low percentage of success of the doctors on the definition of CKD (MP = 46%; R1 = 40.6%; R2 = 60%; R3 = 52.9%; p = 0.623) and classification (MP = 34.9%; R1 = 53.1%, R2 = 60%; R3 = 52.9%; p = 0.158). CONCLUSION: The study showed that most doctors do not use any guidelines for clinical management of CKD and that there are gaps in knowledge on the subject, even among physicians who work in the university environment. In this sense, we propose the realization of mini-workshops for participants and students from boarding UFRN, using Case-Based Learning Strategy (CBL), with small group discussion, to strengthen the incorporation of CKD guidelines in undergraduate teaching and in clinical medical practice in general.

Conhecimento da doença renal crônica entre médicos conforme as diretrizes práticas

INTRODUCTION: Chronic kidney disease (CKD) is a global health problem, with increasing prevalence in its terminal stage and one of the factors that can contribute is the failure to recognize the disease and its risk factors. OBJECTIVE: To evaluate the knowledge of medical residents (MR) and medical preceptors (MP) in hospitals in the Federal University of Rio Grande do Norte in Natal-RN - Brazil, on the DRC, based on the policy of the Kidney Disease Improving Global Outcomes (KDIGO ). METHODS: Cross-sectional study where 64 MR (R1 = 32; R2 = 15; R3 = 17) and 63 MP answered a questionnaire divided into seven sessions that addressed aspects of the DRC since the setting up referral to a nephrologist. RESULTS: Only 20 participants (15.7%) reported using any guidelines for the management of CKD. The scores obtained by session were: Definition and classification (46.1 ± 47.8); Risk factors (70.5 ± 27.9); Laboratory evaluation (58.2 ± 8.8); Clinical action plan (57.6 ± 19.9); Reduction in proteinuria (68.3 ± 15.0); Complications (64.8 ± 19.9); Referral to a nephrologist (73.0 ± 44.6). There was a statistically significant difference between the knowledge of MR and MP in the sessions: Laboratory evaluation (MR 61.5 ± 8.4 vs 54.8 ± 7.9 MP; p <0.001); Reduction in proteinuria (73.1 ± 11.4 vs MR MP 63.5 ± 16.7; p <0.001) and Referral to a nephrologist (MR 81.2 ± 39.3 vs 64.5 ± 48.2 MP; p = 0.035). Among the MR, the R2 obtained the best score (63.9 ± 22.6 vs R1 R2 R3 71.9 ± 17.2 vs 63.5 ± 22.5, p = 0.445). It identified a low percentage of success of the doctors on the definition of CKD (MP = 46%; R1 = 40.6%; R2 = 60%; R3 = 52.9%; p = 0.623) and classification (MP = 34.9%; R1 = 53.1%, R2 = 60%; R3 = 52.9%; p = 0.158). CONCLUSION: The study showed that most doctors do not use any guidelines for clinical management of CKD and that there are gaps in knowledge on the subject, even among physicians who work in the university environment. In this sense, we propose the realization of mini-workshops for participants and students from boarding UFRN, using Case-Based Learning Strategy (CBL), with small group discussion, to strengthen the incorporation of CKD guidelines in undergraduate teaching and in clinical medical practice in general.

Estudo imunoistoquímico do CD34 e podoplanina na doença periodontal

Angiogenesis and lymphangiogenesis are changes that occur due to gingival inflammation caused by microorganisms present in the biofilm, as well as the migration of immune cells and secretion of mediators in the aggressed site. This study aimed to research angiogenesis and lymphangiogenesis in 90 specimens of clinically healthy, with gingivitis and chronic periodontitis gingival tissue biopsies. The histological sections were evaluated by hematoxylin and eosin and the immunohistochemical technique through immunostaining for CD34 and podoplanin. To evaluate the angiogenic and lymphangiogenic indexes we performed a microvessel counting technique. The results showed that there is a correlation between the indexes (p = 0.030), however, we observed that periodontitis showed less lymphatic vessels than clinically healthy gingival tissue (p = 0.016). Podoplanin showed positive staining in the basal layers of the epithelium, and we observed a relationship between immunostaining intensity and the intensity of inflammatory infiltrate, with more intense staining in the presence of severe inflammatory infiltrate (p = 0.033). For this study, we concluded that there are fewer blood vessels in periodontitis compared with clinically healthy gingiva. The signaling present in the inflammatory process and the actual role of gingival blood and lymphatic vasculature are not fully understood, with further studies on angiogenesis and lymphangiogenesis being suggested.

Estudo imunoistoquímico do CD34 e podoplanina na doença periodontal

Angiogenesis and lymphangiogenesis are changes that occur due to gingival inflammation caused by microorganisms present in the biofilm, as well as the migration of immune cells and secretion of mediators in the aggressed site. This study aimed to research angiogenesis and lymphangiogenesis in 90 specimens of clinically healthy, with gingivitis and chronic periodontitis gingival tissue biopsies. The histological sections were evaluated by hematoxylin and eosin and the immunohistochemical technique through immunostaining for CD34 and podoplanin. To evaluate the angiogenic and lymphangiogenic indexes we performed a microvessel counting technique. The results showed that there is a correlation between the indexes (p = 0.030), however, we observed that periodontitis showed less lymphatic vessels than clinically healthy gingival tissue (p = 0.016). Podoplanin showed positive staining in the basal layers of the epithelium, and we observed a relationship between immunostaining intensity and the intensity of inflammatory infiltrate, with more intense staining in the presence of severe inflammatory infiltrate (p = 0.033). For this study, we concluded that there are fewer blood vessels in periodontitis compared with clinically healthy gingiva. The signaling present in the inflammatory process and the actual role of gingival blood and lymphatic vasculature are not fully understood, with further studies on angiogenesis and lymphangiogenesis being suggested.

A análise de redes sociais no estudo do processo da construção da ajuda mútua da pessoa com doença oncológica com blogue

Os recentes desenvolvimentos na saúde, sociedade e tecnologia, têm conduzido a novas formas de estar. Encarar hoje a doença oncológica (DO) é enfrentar um desafio. A comunicação, também sofreu evolução e a Internet assume um espaço crescente na sociedade. O blogue revolucionou a partilha de experiências, como é o caso da vivência da DO, podendo ser gerador de um processo de construção de ajuda mútua. Emergiu a questão: Quais os bloguitas mais ativos e dominantes numa rede de pessoas com doença oncológica com blogue? Este artigo tem como objetivos: Identificar as pessoas com DO com blogue; Identificar as pessoas mais ativas e as pessoas dominantes na rede, recorrendo à Análise Estrutural da Rede Social. Para selecionar a amostra recorreu-se ao método de amostragem não probabilística, intencional, em bola de neve. A rede encontrada constitui-se por 32 blogues, com 1602 ligações (720 com pessoas com DO e 434 na rede), dos quais foram selecionados 17 blogues. A rede estudada tem uma boa densidade (0,438), pelo que a informação se difunde com facilidade entre os nós, cujos atores têm altos níveis de capital social.

Promoção do desenvolvimento cognitivo em idosos com a doença de Alzheimer – as práticas e os contextos de estruturas residenciais para idosos

O crescimento da fatia da população com idade superior a 65 anos tem levado a uma maior atenção sobre as consequências sociais, económicas, políticas, principalmente nos países desenvolvidos. O estudo que se apresenta é uma abordagem predominantemente qualitativa e tem características descritivas. Pretendemos conhecer de que forma as estruturas residenciais para idosos promovem o desenvolvimento cognitivo em idosos com a doença de Alzheimer através de atividades de estimulação cognitiva. Foram realizadas entrevistas em profundidade aos técnicos responsáveis por quatro estruturas residenciais de idosos (ERPI), da zona centro de Portugal e os dados recolhidos foram triangulados com a análise documental e a observação naturalista realizada pela investigadora, dado que desenvolve a sua atividade profissional neste contexto Os resultados revelam que as estruturas residenciais para idosos estão sensíveis à importância de criar momentos de estimulação cognitivas para idosos com a doença de Alzheimer. Esta tarefa está dificultada não só pela lacuna na formação específica dos técnicos, como também pelo aumento de utentes com estas e outras necessidades, condicionando a ação individualizada destes técnicos. As estruturas residenciais para idosos, consideram que é necessário fazer uma adaptação do processo de institucionalização quando se trata de um utente com esta demência. Existe também uma grande preocupação em manter a capacidade motora, estimulação cognitiva, mantendo assim por mais tempo as capacidades de cada idoso por forma a ter uma melhor qualidade de vida e autonomia.

Low-linewidth and tunable single frequency 1x2 multimode-interferometer-Fabry-Perot laser diode

In this paper, we present a novel 1x2 multi-mode-interferometer-Fabry-Perot (MMI-FP) laser diode, which demonstrated tunable single frequency operation with more than 30dB side mode suppression ratio (SMSR) and a tuning range of 25nm in the C and L bands, as well as a 750 kHz linewidth. These lasers do not require material regrowth and high resolution gratings; resulting in a simpler process that can significantly increase the yield and reduce the cost.

3D nanoimprint technology for NIR Fabry-Pérot filter arrays

Im Rahmen dieser Arbeit wird die Herstellung von miniaturisierten NIR-Spektrometern auf Basis von Fabry-Pérot (FP) Filter Arrays behandelt. Bisher ist die kostengünstige Strukturierung von homogenen und vertikal erweiterten Kavitäten für NIR FP-Filter mittels Nanoimprint Technologie noch nicht verfügbar, weil die Qualität der Schichten des Prägematerials unzureichend ist und die geringe Mobilität der Prägematerialien nicht ausreicht, um die vertikal erweiterten Kavitäten zu füllen. Diese Arbeit konzentriert sich auf die Reduzierung des technischen Aufwands zur Herstellung von homogenen und vertikal erweiterten Kavitäten. Zur Strukturierung der Kavitäten wird ein großflächiger substratkonformer UV-Nanoimprint Prozess (SCIL - Substrate Conformal Imprint Lithoghaphy) verwendet, der auf einem Hybridstempel basiert und Vorteile von harten und weichen Stempeln vereint. Um die genannten Limitierungen zu beseitigen, werden alternative Designs der Kavitäten untersucht und ein neues Prägematerial eingesetzt. Drei Designlösungen zur Herstellung von homogenen und erweiterten Kavitäten werden untersucht und verglichen: (i) Das Aufbringen des Prägematerials mittel mehrfacher Rotationsbeschichtung, um eine höhere Schichtdicke des Prägematerials vor dem Prägeprozess zu erzeugen, (ii) die Verwendung einer hybriden Kavität bestehend aus einer strukturierten Schicht des Prägematerials eingebettet zwischen zwei Siliziumoxidschichten, um die Schichtdicke der organischen Kavität zu erweitern und (iii) die Optimierung des Prägeprozesses durch Verwendung eines neuen Prägematerials. Die mit diesen drei Ansätzen hergestellten FP-Filter Arrays zeigen, hohe Transmissionen (beste Transmission > 90%) und kleine Linienbreiten (Halbwertsbreiten <5 nm).

Fatores Influentes nos Programas Terapêuticos em Doença Mental

O presente estudo partiu de reflexões acerca dos movimentos da reforma assistencial psiquiátrica e o processo de desinstitucionalização. Apresenta-se a evolução dos espaços de loucura e da Saúde Mental até aos conceitos de comunidade terapêutica, reabilitação psicossocial e suporte social. A Saúde mental não pode ser considerada de forma restrita ao indivíduo pois reflete uma experiência grupal. Objetivo: Identificar variáveis capazes de influenciar o decurso de um processo terapêutico, em regime de comunidade terapêutica na área da Saúde Mental. Método: estudo de natureza mista, de carácter exploratório, contou com a informação relativa a 112 pacientes que estão ou estiveram incluídos no programa terapêutico de uma instituição vocacionada para intervenção em sujeitos com patologia mental severa. Foi utilizada uma grelha por nós construída de forma a obter dados relativos às variáveis idade, diagnóstico, nível de retração social, especificidades da estrutura familiar, suporte disponibilizado, grau de motivação e tipo de alta. Resultados: Os dados revelam a importância do tipo de diagnóstico, especificidades da estrutura familiar e grau de motivação para o processo terapêutico. Por meio destas variáveis podemos indiciar o sucesso ou insucesso terapêutico de um doente mental com uma probabilidade de 71,4%. Os dados sublinham ainda a importância da interação social e comportamentos da família para a motivação do doente para o tratamento. / This study was based on reflections about the movements of the psychiatric care reform and the process of deinstitutionalization. It presents the evolution of the spaces of madness and mental health to the concepts of therapeutic community, psychosocial rehabilitation and social support. The mental health can not be considered narrowly as the individual reflects a group experience. Objective: To identify variables that influence the course of a therapeutic process, on a therapeutic community in the area of Mental Health. Method: study of a mixed nature, exploratory, had information on 112 patients who are or have been included in the therapeutic program of an institution devoted to intervention in subjects with severe mental illness. We used a grid constructed by us to obtain data on age, diagnosis, level of social withdrawal, specific family structure, support available, motivation level and type of discharge. Results: The data reveal the importance of the type of diagnosis, the specific family structure and degree of motivation for the therapeutic process. By means of these variables can indicate the success or treatment failure of a mental patient with a probability of 71.4%. The data underline the importance of social interaction and behavior of the family to the patient's motivation for treatment.

Vergonha e Solidão na Doença Mental Crónica: contributo de um estudo exploratório

Este estudo pretende explorar a natureza da vergonha, enquanto vivência emocional, e a sua relação com a solidão nos doentes mentais crónicos. Foi avaliada a vergonha interna e externa, a solidão, e estados emocionais negativos, nomeadamente a depressão, ansiedade e stress. Nesta investigação participaram 41 utentes com diagnóstico de perturbação mental. Para avaliar as variáveis psicológicas pretendidas foi utilizada a Escala de Vergonha Interna (ISS), a Escala de Vergonha Externa (OAS), A Escala de Solidão UCLA e a Escala de Depressão, Ansiedade e Stress (DASS-21). Os resultados indicaram que os doentes mentais da nossa amostra apresentam maiores níveis de vergonha comparativamente à população geral. São as mulheres que apresentam valores mais elevados de vergonha interna, enquanto os divorciados apresentam maiores índices de vergonha externa e de solidão. Os doentes que têm uma actividade laboral manifestam menores níveis de solidão e de depressão. Quanto mais elevadas as habilitações literárias dos participantes, menor é o nível de ansiedade. No estudo de comparação entre doentes institucionalizados e não-institucionalizados, verificou-se que os primeiros apresentam níveis significativamente mais elevados de ansiedade, não se distinguindo relativamente à percepção de solidão e de vergonha (interna e externa). A análise da relação entre as variáveis evidenciou que os valores de vergonha interna e de solidão estavam associados de forma positiva e elevada à depressão e de forma moderada à ansiedade e stress. Não obstante as limitações reconhecidas, o presente estudo contribuiu para um melhor conhecimento dos estados emocionais negativos nos doentes mentais. / This study aims to explore the nature of shame, while emotional experience and its relationship with loneliness in the chronic mentally ill. We evaluated the internal and external shame, loneliness, and negative emotional states, including depression, anxiety and stress. 41 users participated in this investigation with a diagnosis of mental disorder. To assess the psychological variables was intended to use Internal Shame Scale (ISS), the Foreign Shame Scale (OAS), the UCLA Loneliness Scale and the Scale for Depression, Anxiety and Stress (DASS-21). The results indicated that the mentally ill in our sample have higher levels of shame compared to the general population. They are women who have higher levels of internal shame, while the divorced have higher rates of external shame and loneliness. Patients who have a work activity demonstrate lower levels of loneliness and depression. The higher the educational level of participants, the lower the level of anxiety. In the comparative study of institutionalized patients and non-institutionalized, it was found that the former have significantly higher levels of anxiety, not distinguishing relation to the perception of loneliness and shame (internal and external). The analysis of the relationship between the variables showed that the values of internal shame and loneliness were positively associated with depression and high and moderately to anxiety and stress. Despite the recognized limitations, this study contributes to a better understanding of negative emotional states in the mentally ill.

Representações Sociais da Doença Mental: um estudo qualitativo com profissionais da Saúde Mental

Este trabalho pretende conhecer as representações sociais de Psiquiatras, Internos de Psiquiatria, Pedopsiquiatras e Psicólogos Clínicos sobre a doença mental em quatro dimensões: (1) conceptual – conceitos de saúde e doença mental, (2) explicativa – causalidade da doença mental (3) interventiva – modelos de intervenção e objetivos da prática clínica, e (4) contextual – influência do contexto na prática clínica. É um estudo qualitativo de carácter exploratório, pontuado epistemologicamente pelo construcionismo social e teoricamente pelo quadro das representações sociais. Participaram 30 profissionais (13 Psicólogos, 10 Psiquiatras, 5 Internos de Psiquiatria e 2 Pedopsiquiatras) aos quais foi aplicada uma entrevista semi-estruturada que foi analisada quanto ao seu conteúdo (através do software NVivo 10). Da análise dos resultados salienta-se que as representações dos profissionais quanto à conceptualização da doença mental são heterogéneas. A saúde mental é equacionada como flexibilidade, adaptação, funcionalidade e bem-estar biopsicossocial do indivíduo. A causalidade atribuída à doença mental assenta no modelo interacionista biopsicossocial. Quanto à intervenção, os participantes utilizam estratégias e modelos de intervenção ecléticos, salientando-se como objetivos a promoção do bem-estar e diminuição do sofrimento, a promoção do funcionamento e autonomia e a “cura”. O contexto institucional surge como comprometedor da liberdade de atuação na prática pública e como facilitador da liberdade de atuação do clínico na prática privada. Conclui-se que a análise individual (disposicional) do comportamento patológico é privilegiada em detrimento da análise contextual (situacional). Implicações do presente estudo para o quadro teórico das representações sociais da doença mental são consideradas. / The present aims to acknowledge the social representations about mental disease of Psychiatrists, Psychiatrist Interns, Child Psychiatrists and Clinical Psychologists. Four dimensions were considered: (1) conceptual - concepts about health and mental disease; (2) descriptive – mental disease causes; (3) intervention – models for clinical intervention and clinical procedures; and (4) context – influence of the context in clinical procedures. A qualitative and exploratory study was developed based, epistemologically, on social constructionism and social representations. Through the course of the research 30 semi-structured interviews were conducted (13 psychologists, 10 psychiatrists, 5 Internal Psychiatry and 2 child psychiatrists) to which it was applied a semi-structured interview. A content analysis of the interviews was performed by NVivo 10. Results showed that the social representations of mental disease are heterogeneous. Mental health is conceptualized according to the flexibility, adaptation, functionality and the biopsychosocial well-being of the individual. The causality of mental disease is explained by the interactionist biopsychosocial model. Professionals mainly adopt eclectic intervention models and strategies in clinical practice. Participants refer that their goals are to promote the well-being, diminish the suffering and promote the functioning, the autonomy and “cure”. The public institutional framework compromises the flexibility in the clinical procedures. Private practices increases the procedural possibilities of the professionals. Concludes that the individual analysis (dispositional) of the pathological behavior is privileged in detriment of the contextual analysis (situational). Implications of this study to the theoretical framework of social representations of mental illness are considered.