Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS.Methods: The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers.Results: Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%), seven were suspected of having hereditary CRC (2.8%) and 11 were controls (2.68%). There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans, in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both families. Only two positive cases of microsatellite instability (2/17, 11.8%) were detected in tumours from p.Lys618Ala carriers, indicating that this variant does not play a role in functional inactivation of MLH1 in CRC patients.Conclusions: The p.Lys618Ala variant should be considered a neutral variant for LS. These findings have implications for the clinical management of CRC probands and their relatives.

A longitudinal study of environmental tobacco smoke exposure in children: parental self reports versus age dependent biomarkers

Background: Awareness of the negative effects of smoking on children's health prompted a decrease in the self-reporting of parental tobacco use in periodic surveys from most industrialized countries. Our aim is to assess changes between ETS exposure at the end of pregnancy and at 4 years of age determined by the parents' self-report and measurement of cotinine in age related biological matrices.Methods: The prospective birth cohort included 487 infants from Barcelona city (Spain). Mothers were asked about maternal and household smoking habit. Cord serum and children's urinary cotinine were analyzed in duplicate using a double antibody radioimmunoassay. Results: At 4 years of age, the median urinary cotinine level in children increased 1.4 or 3.5 times when father or mother smoked, respectively. Cotinine levels in children's urine statistically differentiated children from smoking mothers (Geometric Mean (GM) 19.7 ng/ml; 95% CI 16.83–23.01) and exposed homes (GM 7.1 ng/ml; 95% CI 5.61–8.99) compared with non-exposed homes (GM 4.5 ng/ml; 95% CI 3.71–5.48). Maternal self-reported ETS exposure in homes declined in the four year span between the two time periods from 42.2% to 31.0% (p < 0.01). Nevertheless, most of the children considered non-exposed by their mothers had detectable levels of cotinine above 1 ng/mL in their urine.Conclusion: We concluded that cotinine levels determined in cord blood and urine, respectively, were useful for categorizing the children exposed to smoking and showed that a certain increase in ETS exposure during the 4-year follow-up period occurred.

Revisão sistemática: noções gerais

A revisão sistemática é uma metodologia útil em saúde, dado que possibilita identificar as melhores evidências e sintetizá-las, para fundamentar propostas de mudanças nas áreas de prevenção, diagnóstico, tratamento e reabilitação. Este artigo tem como objetivo oferecer subsídios para o planejamento da revisão sistemática respondendo às seguintes perguntas: O que é Prática Baseada em Evidências? O que é revisão sistemática? A revisão sistemática deve estar ancorada em pesquisas qualitativas ou quantitativas? Quais são as fontes de informação pertinentes para identificar as evidências? O que é evidência? Quais os procedimentos para validar a revisão sistemática? Como avaliar a qualidade das evidências? Qual metodologia é empregada para a síntese das evidências? Como planejar a revisão sistemática?

Portadores de tuberculose multirresistente em um centro de referência: perfil sócio-demográfico e clínico-epidemiológico

Objetivou-se descrever o perfil sócio-demográfico e clínico-epidemiológico de portadores de Tuberculose Multirresistente (TBMR), matriculados em Centro de Referência para Tuberculose (TB) do Estado de São Paulo. Estudo quantitativo, descritivo, retrospectivo e seccional. Levantaram-se dados de fichas de notificação e de prontuários de sujeitos matriculados de agosto de 2002 a dezembro de 2009. Os dados foram coletados de fevereiro a junho de 2010, com instrumento estruturado, e sistematizados no Excel e Epi Info. Identificaram-se 188 sujeitos, 74,2% do Município de São Paulo; 93,1% na faixa etária produtiva; 61,6% desempregados; 64,4% homens; 34,6% com 4 a 7 anos de escolaridade; 98,9% com tratamentos anteriores para TB; 98,4% com TBMR pulmonar; 71,4% com lesão bilateral cavitária e todos realizaram teste de sensibilidade aos antimicrobianos. Os achados evidenciam pistas de que os sujeitos desenvolveram TBMR principalmente devido às condições de vida e acesso aos serviços de saúde. A limitação dos dados de fichas de notificação e prontuários limitou abordagem ampla como requer a TB, enfermidade consagradamente socialmente determinada.

Evaluación del razonamiento científico y comunicación oral y escrita en el licenciado en enfermería

Estudio descriptivo, transversal, realizado en Santiago de Chile. Tuvo como objetivo evaluar el razonamiento científico y comunicación oral y escrita en el licenciado en enfermería. Muestra constituida por 37 estudiantes licenciados en la carrera de enfermería. La investigación fue diseñada en tres etapas: I) creación y validación del instrumento; II) capacitación del equipo de docentes participantes para la aplicación uniforme del instrumento; III) aplicación del instrumento y análisis de datos. Los principales resultados muestran porcentajes diferentes de competencia obtenidos por los licenciados en enfermería, prevaleciendo el logro del razonamiento científico (83,16%); seguido de la comunicación oral y escrita (78,37%). Esta investigación muestra la utilidad para las Escuelas de Enfermería de implementar un sistema para evaluar el perfil de egresados del grado de licenciado en enfermería que garantice la calidad de la formación.

Instal·lació fotovoltaica a la UPF : projecte de viabilitat

És viable portar a terme la instal·lació de panells solars fotovoltaics a la UniversitatPompeu Fabra? Està dins dels objectius de la universitat? Per què encara no s’ha portat a terme un projecte com aquest en cap campus de la UPF? Aquest treball busca donar resposta a totes aquestes preguntes i fer-ho de manera realista i imparcial.Primer de tot, hem de destacar que fer una instal·lació solar en un edifici és, a diferència del que ens ve al cap primerament, una inversió. Amb això volem dir que l’energia generada per cada panell solar no es dedica al consum de la niversitat, sinó que es ven a la xarxa elèctrica a un preu fixat per llei. Així que el que tenim entre mans és clarament una inversió i, evidentment, ens pot fer guanyar diners.L’espina dorsal del treball és un estudi exhaustiu de la viabilitat econòmica que tindria aquesta inversió en diferents escenaris. Hem centrat l’estudi en el Campus de la Ciutadella de la UPF, concretament sobre les cobertes dels edificis Roger de Llúria i Jaume Primer; i hem calculat el VAN, TIR i pay-back de la inversió sota diferents circumstàncies per mostrar un panorama complert de la situació. Tot i això, el treball no es queda aquí. Emmarcant l’estudi de la inversió, s’ha situat lesenergies renovables en l’actualitat, concretament la solar fotovoltaica, s’ha comparat la ideologia de la UPF amb les ideologies d’altres universitats catalanes que compten amb instal·lacions solars, s’ha comparat els projectes de diverses d’aquestesuniversitats amb el que seria el projecte de la UPF i, per últim, s’ha plantejat unaproposta d’obtenció d’ingressos per tal de millorar la inversió o participar en altresprojectes ecològics. La nostra opinió és que aquest tema té un gran rerefons, ja que neix conceptes relacionats amb la economia, la imatge, la responsabilitat social o l’evolució. Per tant, animem al lector a continuar llegint i descobrir la resposta a tots aquests interrogants.

Impact of the disease: acceptability, ceiling and floor effects and reliability of an instrument on heart failure

This study evaluated the acceptability, ceiling/floor effects, and the reliability of the instrument for measuring the Impact of the Disease on the Daily Life of Patients with Valvular Disease (IDCV) when applied to 135 patients with heart failure (HF). Acceptability was evaluated by the percentage of unanswered items and by the proportion of patients who responded to all items; the ceiling/floor effects by the percentage of patients who scored in the top of 10% best and worst results of the scale, respectively. Reliability was estimated by internal consistency (Cronbach's alpha coefficient) and stability of the measure (intraclass correlation coefficient - ICC). All patients responded to all items. Ceiling/floor effects evidenced were of moderate magnitude. The Cronbach's alpha was satisfactory for the majority of the domains and ICC> 0.90 in all the domains. The IDCV proved to be an easy to understand questionnaire, with evidence of reliability in patients with HF.

Improving patient safety: how and why incidences occur in nursing care

The present investigation was a cross-sectional, quantitative research study analyzing incidents associated with nursing care using a root-cause methodological analysis. The study was conducted in a public hospital intensive care unit (ICU) in Santiago de Chile and investigated 18 incidents related to nursing care that occurred from January to March of 2012. The sample was composed of six cases involving medications and the self-removal of therapeutic devices. The contributing factors were related to the tasks and technology, the professional work team, the patients, and the environment. The analysis confirmed that the cases presented with similar contributing factors, thereby indicating that the vulnerable aspects of the system are primarily responsible for the incidence occurrence. We conclude that root-cause analysis facilitates the identification of these vulnerable points. Proactive management in system-error prevention is made possible by recommendations.

Stress among nurses: an examination of salivary cortisol levels on work and day off

The present study evaluates the use of salivary cortisol concentration as a physiological index of the stress level among nurses on their work day and day off and correlates it with the questionnaire used to measure occupational stress in nurses (Inventário de Estresse em Enfermeiros - IEE). This is a comparative, cross-sectional descriptive study in which sociodemographic data, IEE results and salivary cortisol levels were used. Fifty-seven nurses participated in the study (80.7% females and a mean age of 37.1 years old). The IEE average score was 124.5. The average cortisol level was 564.1 ng/m on work day and 354.1 ng/mL on day off. Nurses who had double workdays presented high values of salivary cortisol during the work day (638.1 ng/mL). In conclusion, salivary cortisol identified the nurses’ stress level, and differences were found between a work day and day off. On the nurses’ day off, their salivary cortisol levels and stress scores were lower.

Perfil dos idosos que cochilam

Esse estudo objetivou caracterizar os idosos que cochilam segundo as características sociodemográficas e de fragilidade. Estudo descritivo, transversal, recorte do projeto multicêntrico Fragilidade em Idosos Brasileiros. Foram avaliados 1.866 idosos utilizando-se questionário sociodemográfico. A fragilidade foi avaliada usando o fenótipo proposto por Fried. Os dados foram tratados com estatística descritiva. Os resultados apontaram que o perfil do idoso que cochila foi constituído predominantemente por mulheres, casadas, aposentadas, pré-frágeis, com média de idade de 73 anos, quatro anos de estudo, renda familiar mensal de 3,9 salários mínimos, com 4,4 filhos e que residiam apenas com eles. Os idosos relataram cochilar em média 5,9 dias por semana, com duração de 53,5 minutos por cochilo. Conhecer o perfil do idoso que cochila contribui para os profissionais de saúde desenvolverem ações em relação aos problemas de sono dos idosos frágeis/pré-frágeis, prevenindo, minimizando ou resolvendo esses problemas.

Assessing the vulnerability of women to sexually transmitted diseases STDS/ HIV: construction and validation of markers

Objective To construct and validate markers of vulnerability of women to STDs/HIV, taking into consideration the importance of STDs/HIV. Method Methodological study carried out in three stages: 1) systematic review and identification of elements of vulnerability in the scientific production; 2) selection of elements of vulnerability, and development of markers; 3) establishment of the expert group and validation of the markers (content validity). Results Five markers were validated: no openness in the relationship to discuss aspects related to prevention of STDs/HIV; no perception of vulnerability to STDs/HIV; disregard of vulnerability to STDs/ HIV; not recognizing herself as the subject of sexual and reproductive rights; actions of health professionals that limit women’s access to prevention of STDs/HIV. Each marker contains three to eleven components. Conclusion The construction of such markers constituted an instrument, presented in another publication, which can contribute to support the identification of vulnerabilities of women in relation to STDs/HIV in the context of primary health care services. The markers constitute an important tool for the operationalization of the concept of vulnerability in primary health care and to promote inter/multidisciplinary and inter/multi-sectoral work processes.


The use of the Nursing Activities Score in clinical settings: an integrative review

ABSTRACT Objective analyze how studies have approached the results obtained from the application of the Nursing Activities Score (NAS) based on Donabedian’s model of healthcare organization and delivery. Method CINAHL and PubMed databases were searched for papers published between 2003 and March 2015. Results 36 articles that met the inclusion criteria were reviewed and double-coded by three independent coders and analyzed based on the three elements of Donabedian’s health care quality framework: structure, process and outcome. The most frequently addressed, but not always tested, variables were those that fell into the structure category. Conclusion variables that fell into the process category were used less frequently. Beside NAS, the most frequently used variables in the outcome category were mortality and length of stay. However, no study used a quality framework for healthcare or NAS to evaluate costs, and it is recommended that further research should explore this approach.

Revision of the myrmecophilous diapriid genus Bruchopria Kieffer (Hymenoptera, Proctotrupoidea, Diapriidae)

A redescription of the genus Bruchopria and its two species, B. hexatoma Kieffer (female and male) and B. pentatoma Kieffer (male only) is presented. New record for B. hexatoma from Argentina is provided. Some aspects of diapriid biology with emphasis on their myrmecophilic evidence and association with ants are discussed. Scanning photographs of morphological structures are included.

Testes em condições para o controle de Dysmicoccus texensis (Tinsley) (Hemiptera, Pseudococcidae) em cafeeiro com nematóides entomopatogênicos do gênero Heterorhabditis(Rhabditida, Heterorhabditidae)

Os nematóides entomopatogênicos (NEPs) apresentam potencial para o controle biológico de pragas e têm sido usados com sucesso, em vários países, no controle de pragas de solo e de ambientes crípticos, como a cochonilha-da-raiz-do-cafeeiro Dysmicoccus texensis (Tinsley). Testes de laboratório demonstram que estes agentes apresentam alta virulência sobre este inseto, no entanto, são necessários testes que avaliem a eficiência dos NEPs em condições de casa-de-vegetação e campo, sendo este o objetivo do presente trabalho. O experimento em condição de casa-de-vegetação para o controle da cochonilha foi realizado em vasos infestados, usando dois isolados do nematóide e dois métodos de aplicação (cadáver infectado e suspensão aquosa), conduzido em delineamento inteiramente casualisado com cinco repetições. O experimento em condições de campo foi conduzido em blocos casualisados (6 blocos), para avaliar a eficiência de dois isolados heterorhabditídeos no controle da cochonilha-da-raiz-do-cafeeiro. Os resultados mostraram que, em casa-de-vegetação, o método de suspensão aquosa apresentou melhores resultados para os dois isolados, sendo que JPM3 aplicado em suspensão aquosa foi o melhor tratamento, apresentando eficiência de controle de 70%. No experimento de campo, apenas o tratamento com o inseticida Actara 250 WG (thiamethoxam), usado como padrão de comparação, e JPM3, aplicado em suspensão aquosa, diferiram da testemunha, apresentando 81 e 65% de eficiência de controle, respectivamente.

Recuperación, erosión y retención de otolitos en bolos de Guanay: ¿son los bolos realmente buenos indicadores de la dieta?

Se estudió el porcentaje de recuperación, el grado de erosión y el tiempo máximo de retención de los otolitos en 13 guanayes en cautiverio. Las aves fueron alimentadas individualmente con peces enteros y frescos previamente medidos y marcados; produciendo en promedio (n=13) bolos en 55,05% de los días que duró el experimento. El 37,81% de las aves produjeron bolos con otolitos al día siguiente de haber consumido su alimento (n=2.134). En estos bolos se encontró que sólo el 14,79% de los otolitos y el 26,61 % de los cristalinos ingeridos son recuperados, variando el porcentaje de recuperación de acuerdo a la especie consumida. Se encontraron diferencias al comparar la distribución por tallas de las principales presas ingeridas con la distribución por tallas de estas especies reconstruida a partir de las longitudes o pesos de los otolitos recuperados. El 80% a 100% de los otolitos retenidos permanecen como máximo hasta tres días en el tracto digestivo del guanay, los otolitos grandes pueden permanecer hasta 9 días. La metodología que se propone permite tener una mejor aproximación de la dieta y mayor precisión al estimar el consumo de cada presa. Es posible estimar la cantidad real de alimento ingerido si se conoce el porcentaje de recuperación de los otolitos de las principales presas consumidas. Los resultados de este trabajo muestran que sin duda la información que proporcionan los bolos residuales es valiosa, pues permite conocer con gran precisión las pro­porciones en que se consumieron cada una de las presas. Sin embargo, la información sobre tallas de peces consumidos que se puede obtener a partir de los otolitos recuperados, plantea aún problemas que deben ser resueltos, en los cuales se deberá continuar investigando.