Guidelines for follow-up of women at high risk for inherited breast cancer: Consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer

Protocols for activity aiming at early diagnosis and treatment of inherited breast or breast-ovarian cancer have been reported. Available reports on outcome of such programmes are considered here. It is concluded that the ongoing activities should continue with minor modifications. Direct evidence of a survival benefit from breast and ovarian screening is not yet available. On the basis of expert opinion and preliminary results from intervention programmes indicating good detection rates for early breast cancers and 5-year survival concordant with early diagnosis, we propose that women at high risk for inherited breast cancer be offered genetic counselling, education in ‘breast awareness’ and annual mammography and clinical expert examination from around 30 years of age. Mammography every second year may be sufficient from 60 years on. BRCA1 mutation carriers may benefit from more frequent examinations and cancer risk may be reduced by oophorectomy before 40–50 years of age. We strongly advocate that all activities should be organized as multicentre studies subjected to continuous evaluation to measure the effects of the interventions on long-term mortality, to match management options more precisely to individual risks and to prepare the ground for studies on chemoprevention

Compared to conventional, ecological intensive management promotes beneficial proteolytic soil microbial communities for agro-ecosystem functioning under climate change-induced rain regimes

Projected climate change and rainfall variability will affect soil microbial communities, biogeochemical cycling and agriculture. Nitrogen (N) is the most limiting nutrient in agroecosystems and its cycling and availability is highly dependent on microbial driven processes. In agroecosystems, hydrolysis of organic nitrogen (N) is an important step in controlling soil N availability. We analyzed the effect of management (ecological intensive vs. conventional intensive) on N-cycling processes and involved microbial communities under climate change-induced rain regimes. Terrestrial model ecosystems originating from agroecosystems across Europe were subjected to four different rain regimes for 263 days. Using structural equation modelling we identified direct impacts of rain regimes on N-cycling processes, whereas N-related microbial communities were more resistant. In addition to rain regimes, management indirectly affected N-cycling processes via modifications of N-related microbial community composition. Ecological intensive management promoted a beneficial N-related microbial community composition involved in N-cycling processes under climate change-induced rain regimes. Exploratory analyses identified phosphorus-associated litter properties as possible drivers for the observed management effects on N-related microbial community composition. This work provides novel insights into mechanisms controlling agro-ecosystem functioning under climate change

No evidence for association between polymorphisms in GRM3 and schizophrenia

BACKGROUND: Three studies have previously reported data that were interpreted by the authors as supportive of association between schizophrenia and polymorphisms in the gene encoding the metabotropic glutamate receptor GRM3. METHODS: In a bid to examine this hypothesis, we examined seven SNPs spanning GRM3 in a UK case-control sample (schizophrenic cases n = 674, controls n = 716). These included all SNPs previously reported to be associated, alone or in haplotypes, with schizophrenia in European or European American samples. RESULTS: Our data showed no evidence for association with single markers, or 2, 3, 4 and 5 marker haplotypes, nor did any specific haplotypes show evidence for association according to previously observed patterns. CONCLUSION: Examination of our own data and those of other groups leads us to conclude that at present, GRM3 should not be viewed as a gene for which there is replicated evidence for association with schizophrenia

Keep them alive! Design and Evaluation of the “Community Fostering Reference Model”

Firms host online communities for commercial purposes, for example in order to integrate customers into ideation for new product development. The success of these firm-hosted online communities depends entirely on the cooperation of a high number of customers that constantly produce valuable knowledge for firms. However, in practice, the majority of successfully implemented communities suffers from stagnation and even a decrease of member activities over time. Literature provides numerous guidelines on how to build and launch these online communities. While these models describe the initial steps of acquiring and activating a community base from scratch very well and explicitly, they neglect continuous member activation and acquistion after a successful launch. Against this background, the authors propose the Community Fostering Reference Model (CoFoRM), which represents a set of general procedures and instruments to continuously foster member activity. In this paper, the authors present the theory-driven design as well as the evaluation of the CoFoRM in a practical use setting. The evaluation results reveal that the CoFoRM represents a valuable instrument in the daily working routine of community managers, since it efficiently helps activating community members especially in the late phases of a community’s LifeCycle

Percepção de estudantes de psicologia sobre a informática em sua formação profissional

Neste artigo analisa-se uma pesquisa de natureza qualitativa, cujo objetivo era explorar a percepção de 45 alunos de psicologia de diferentes universidades da cidade de Santiago do Chile, sobre a incorporação da informática como apoio para a aprendizagem em sua formação profissional. A informação foi coletada através de entrevistas semiestruturadas e analisou-se mediante o processo de codificação da Teoría Fundamentada. Os resultados mostram como categorias principais, o conhecimento da informática, a valoração da informática, e os fatores que obstaculizam o uso desta. Da codificação seletiva se desprende uma alta valoração da informática como ferramenta econômica e cômoda, mas também se observa uma alta reticência dos alunos diante de sua utilização no trabalho profissional tradicional do psicólogo. Encontraram-se fatores pessoais e institucionais nos que se baseia a valoração, a motivação e o nível de conhecimento dos estudantes diante do uso de ferramentas informáticas.This paper analyses a qualitative research aimed to exploring the perception of 45 psychology students from different universities in Santiago de Chile, about incorporating information systems to support learning in their professional training. Data were collected through semi structured interviews and their analysis was based on Grounded Theory's coding process. Results show that the major categories are computer knowledge, appreciation of computers and factors that hinder their use. From the selective coding a positive evaluation emerges of information systems as an economic and useful tool. However, there is also a high reluctance on the part of the students regarding the use of such tools in the psychologist' traditional professional work. Personal and organizational factors were found as bases for students' assessment, motivation and level of knowledge facing the use of these tools.En este artículo se analiza una investigación de naturaleza cualitativa, cuyo objetivo era explorar la percepción de 45 alumnos de psicología de diferentes universidades de la ciudad de Santiago de Chile, sobre la incorporación de la informática como apoyo para el aprendizaje en su formación profesional. La información se recolectó a través de entrevistas semiestructuradas y se analizó mediante el proceso de codificación de la Teoría Fundamentada. Los resultados muestran como categorías principales, el conocimiento de la informática, la valoración de la informática, y los factores que obstaculizan el uso de ésta. De la codificación selectiva se desprende una alta valoración de la informática como herramienta económica y cómoda, pero también se observa una alta reticencia de los alumnos frente a su utilización en el trabajo profesional tradicional del psicólogo. Se encontraron factores personales e institucionales en los cuales se fundamenta la valoración, la motivación y el nivel de conocimiento de los estudiantes frente al uso de herramientas informáticas

Fire History from Life-History: Determining the Fire Regime that a Plant Community Is Adapted Using Life-Histories

Wildfire is a fundamental disturbance process in many ecological communities, and is critical in maintaining the structure of some plant communities. In the past century, changes in global land use practices have led to changes in fire regimes that have radically altered the composition of many plant communities. As the severe biodiversity impacts of inappropriate fire management regimes are recognized, attempts are being made to manage fires within a more ‘natural’ regime. In this aim, the focus has typically been on determining the fire regime to which the community has adapted. Here we take a subtly different approach and focus on the probability of a patch being burnt. We hypothesize that competing sympatric taxa from different plant functional groups are able to coexist due to the stochasticity of the fire regime, which creates opportunities in both time and space that are exploited differentially by each group. We exploit this situation to find the fire probability at which three sympatric grasses, from different functional groups, are able to co-exist. We do this by parameterizing a spatio-temporal simulation model with the life-history strategies of the three species and then search for the fire frequency and scale at which they are able to coexist when in competition. The simulation gives a clear result that these species only coexist across a very narrow range of fire probabilities centred at 0.2. Conversely, fire scale was found only to be important at very large scales. Our work demonstrates the efficacy of using competing sympatric species with different regeneration niches to determine the probability of fire in any given patch. Estimating this probability allows us to construct an expected historical distribution of fire return intervals for the community; a critical resource for managing fire-driven biodiversity in the face of a growing carbon economy and ongoing climate change

Female asylum seekers with musculoskeletal pain: the importance of diagnosis and treatment of hypovitaminosis D

BACKGROUND: Hypovitaminosis D is well known in different populations, but may be under diagnosed in certain populations. We aim to determine the first diagnosis considered, the duration and resolution of symptoms, and the predictors of response to treatment in female asylum seekers suffering from hypovitaminosis D. METHODS: Design: A pre- and post-intervention observational study. Setting: A network comprising an academic primary care centre and nurse practitioners. Participants: Consecutive records of 33 female asylum seekers with complaints compatible with osteomalacia and with hypovitaminosis D (serum 25-(OH) vitamin D <21 nmol/l). Treatment intervention: The patients received either two doses of 300,000 IU intramuscular cholecalciferol as well as 800 IU of cholecalciferol with 1000 mg of calcium orally, or the oral treatment only. Main outcome measures: We recorded the first diagnosis made by the physicians before the correct diagnosis of hypovitaminosis D, the duration of symptoms before diagnosis, the responders and non-responders to treatment, the duration of symptoms after treatment, and the number of medical visits and analgesic drugs prescribed 6 months before and 6 months after diagnosis. Tests: Two-sample t-tests, chi-squared tests, and logistic regression analyses were performed. Analyses were performed using SPSS 10.0. RESULTS: Prior to the discovery of hypovitaminosis D, diagnoses related to somatisation were evoked in 30 patients (90.9%). The mean duration of symptoms before diagnosis was 2.53 years (SD 3.20). Twenty-two patients (66.7%) responded completely to treatment; the remaining patients were considered to be non-responders. After treatment was initiated, the responders' symptoms disappeared completely after 2.84 months. The mean number of emergency medical visits fell from 0.88 (SD 1.08) six months before diagnosis to 0.39 (SD 0.83) after (P = 0.027). The mean number of analgesic drugs that were prescribed also decreased from 1.67 (SD 1.5) to 0.85 (SD 1) (P = 0.001). CONCLUSION: Hypovitaminosis D in female asylum seekers may remain undiagnosed, with a prolonged duration of chronic symptoms. The potential pitfall is a diagnosis of somatisation. Treatment leads to a rapid resolution of symptoms, a reduction in the use of medical services, and the prescription of analgesic drugs in this vulnerable population

Comprehensive mRNA Expression Profiling Distinguishes Tauopathies and Identifies Shared Molecular Pathways

Background: Understanding the aetiologies of neurodegenerative diseases such as Alzheimer's disease (AD), Pick's disease (PiD), Progressive Supranuclear Palsy (PSP) and Frontotemporal dementia (FTD) is often hampered by the considerable clinical and molecular overlap between these diseases and normal ageing. The development of high throughput genomic technologies such as microarrays provide a new molecular tool to gain insight in the complexity and relationships between diseases, as they provide data on the simultaneous activity of multiple genes, gene networks and cellular pathways. Methodology/Principal Findings: We have constructed genome wide expression profiles from snap frozen post-mortem tissue from the medial temporal lobe of patients with four neurodegenerative disorders (5 AD, 5 PSP, 5 PiD and 5 FTD patients) and 5 control subjects. All patients were matched for age, gender, ApoE-e and MAPT (tau) haplotype. From all groups a total of 790 probes were shown to be differently expressed when compared to control individuals. The results from these experiments were then used to investigate the correlations between clinical, pathological and molecular findings. From the 790 identified probes we extracted a gene set of 166 probes whose expression could discriminate between these disorders and normal ageing. Conclusions/Significance: From genome wide expression profiles we extracted a gene set of 166 probes whose expression could discriminate between neurological disorders and normal ageing. This gene set can be further developed into an accurate microarray-based classification test. Furthermore, from this dataset we extracted a disease specific set of genes and identified two aging related transcription factors (FOXO1A and FOXO3A) as possible drug targets related to neurodegenerative disease

The Sun Health Research Institute Brain Donation Program: Description and Eexperience, 1987–2007

The Brain Donation Program at Sun Health Research Institute has been in continual operation since 1987, with over 1000 brains banked. The population studied primarily resides in the retirement communities of northwest metropolitan Phoenix, Arizona. The Institute is affiliated with Sun Health, a nonprofit community-owned and operated health care provider. Subjects are enrolled prospectively to allow standardized clinical assessments during life. Funding comes primarily from competitive grants. The Program has made short postmortem brain retrieval a priority, with a 2.75-h median postmortem interval for the entire collection. This maximizes the utility of the resource for molecular studies; frozen tissue from approximately 82% of all cases is suitable for RNA studies. Studies performed in-house have shown that, even with very short postmortem intervals, increasing delays in brain retrieval adversely affect RNA integrity and that cerebrospinal fluid pH increases with postmortem interval but does not predict tissue viability

The effect of low temperature and low light intensity on nutrient removal from municipal wastewater by purple phototrophic bacteria (PPB)

There has been increased interest in alternative wastewater treatment systems to improve nutrient recovery while achieving acceptable TCOD, TN, and TP discharge limits. Purple phototrophic bacteria (PPB) have a high potential for simultaneous nutrient removal and recovery from wastewater. This study evaluated the PPB performance and its growth at different operating conditions with a focus on HRT and light optimization using a continuous-flow membrane photobioreactor (PHB). Furthermore, the effect of low temperature on PPB performance was assessed to evaluate the PPB’s application in cold-climate regions. In order to evaluate PPB performance, TCOD, TN, and TP removal efficiencies and Monod kinetic parameters were analyzed at different HRTs (36, 18, and 9 h), at temperatures of 22°C and 11°C and infrared (IR) light intensities of 50, 3, and 1.4 Wm-2. The results indicated that low temperature had no detrimental impact on PPB’s performance. The photobioreactor (PHB) with cold-enriched PPB has a high potential to treat municipal wastewater with effluent concentrations below target limits (TCOD˂ 50mgL-1, TN˂10 mgL-1, and TP˂1 mgL-1). Monod kinetic parameters Ks, K, Y, and Kd were estimated at 20-29 mgCODL-1, 1.6-1.9 mgCOD(mgVSS.d)-1, 0.47 mgVSS mgCOD-1, and 0.07-0.08 d-1 at temperatures of 11°C-22°C respectively. The results of the steady-state mass balances showed TCOD, TN, and TP recoveries of 80%-86%, which reflected PPB’s substrate and nutrient assimilation. Previous studies utilized high light intensities (˃ 50 Wm-2) to provide PPB with the maximum energy required for its growth. In order to enable the PPB technology as a practical approach in municipal wastewater treatment, light intensity must be optimized. Based on the literature, there is no study on PPB performance at low light intensities using a continuous-flow membrane photobioreactor. The effect of low light intensities of 3, and 1.4 Wm-2 on PPB performance was addressed in this study. The results indicated that PPB at a light intensity as low as 1.4 Wm-2 were able to treat municipal wastewater with effluent concentrations below above-mentioned target limits. Light intensity (1-50 Wm-2) had no detrimental impact on PPB performance and Monod kinetic parameters. This study showed that the optimized light intensity required for municipal wastewater treatment with PPB is significantly lower than previously indicated in the literature. The energy consumptions attributed to PHB’s illumination of 3, and 1.4 Wm-2 were determined to be 1.44, and 0.67 kWh/m3 which is significantly lower than previous studies (˃ 24 kWh/m3)