Fraser syndrome: epidemiological study in a European population.

Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where the mean prevalence is 1 in 230,695 births, compared to the prevalence 1 in 1,091,175 for the rest of Europe (P = 0.0003). Consanguinity was present in 7/26 (27%) families. Ten (38%) cases were liveborn, 14 (54%) pregnancies were terminated following prenatal detection of a serious anomaly, and 2 (8%) were stillborn. Eye anomalies were found in 20/24 (83%), syndactyly in 14/24 (58%), and laryngeal anomalies in 5/24 (21%) patients. Ambiguous genitalia were observed in 3/24 (13%) cases. Bilateral renal agenesis was present in 12/24 (50%) and unilateral in 4/24 (17%) cases. The frequency of anorectal anomalies was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third of the total prevalence rate.

Census 2011 Ireland and Northern Ireland: Key findings

Following publication of the individual Census 2011 results from the Republic of Ireland (ROI) and Northern Ireland (NI), the Central Statistics Office and Northern Ireland Statistics and Research Agency have teamed up to produce a comparative report, Census 2011 Ireland and Northern Ireland. The report presents comparative analysis in a��range of areas including demographics, households, place of birth, religion, health, housing and��travel. Some key findings relevant to ageing and older people across the island of Ireland are summarised in this document:��Census 2011 Ireland and Northern Ireland: Key findings

Regional Health and Social Care Personal and Public Involvement Forum: Annual Update Report 2013/14

The Regional HSC PPI Annual Report for 2013/14 provides an up-date of the work of the Forum and outlines the key areas that have been progressed including the development of PPI standards and the advancement of a generic PPI awareness raising and training programme.

Breast cancer incidence and overdiagnosis in Catalonia (Spain)

Early detection of breast cancer (BC) with mammography may cause overdiagnosis andovertreatment, detecting tumors which would remain undiagnosed during a lifetime. The aims of this study were: first, to model invasive BC incidence trends in Catalonia (Spain) taking into account reproductive and screening data; and second, to quantify the extent of BC overdiagnosis. We modeled the incidence of invasive BC using a Poisson regression model. Explanatory variables were:age at diagnosis and cohort characteristics (completed fertility rate, percentage of women that use mammography at age 50, and year of birth). This model also was used to estimate the background incidence in the absence of screening. We used a probabilistic model to estimate the expected BC incidence if women in the population usedmammography as reported in health surveys. The difference between the observed and expected cumulative incidences provided an estimate of overdiagnosis.Incidence of invasive BC increased, especially in cohorts born from 1940 to 1955. The biggest increase was observed in these cohorts between the ages of 50 to 65 years, where the final BC incidence rates more than doubled the initial ones. Dissemination of mammography was significantly associated with BC incidence and overdiagnosis. Our estimates of overdiagnosis ranged from 0.4% to 46.6%, for women born around 1935 and 1950, respectively.Our results support the existence of overdiagnosis in Catalonia attributed to mammography usage, and the limited malignant potential of some tumors may play an important role. Women should be better informed about this risk. Research should be oriented towards personalized screening and risk assessment tools

Reproductive allocation strategies: a long-term study on proximate factors and temporal adjustments in a viviparous lizard.

Optimisation of reproductive investment is crucial for Darwinian fitness, and detailed long-term studies are especially suited to unravel reproductive allocation strategies. Allocation strategies depend on the timing of resource acquisition, the timing of resource allocation, and trade-offs between different life-history traits. A distinction can be made between capital breeders that fuel reproduction with stored resources and income breeders that use recently acquired resources. In capital breeders, but not in income breeders, energy allocation may be decoupled from energy acquisition. Here, we tested the influence of extrinsic (weather conditions) and intrinsic (female characteristics) factors during energy storage, vitellogenesis and early gestation on reproductive investment, including litter mass, litter size, offspring mass and the litter size and offspring mass trade-off. We used data from a long-term study of the viviparous lizard, Lacerta (Zootoca) vivipara. In terms of extrinsic factors, rainfall during vitellogenesis was positively correlated with litter size and mass, but temperature did not affect reproductive investment. With respect to intrinsic factors, litter size and mass were positively correlated with current body size and postpartum body condition of the previous year, but negatively with parturition date of the previous year. Offspring mass was negatively correlated with litter size, and the strength of this trade-off decreased with the degree of individual variation in resource acquisition, which confirms theoretical predictions. The combined effects of past intrinsic factors and current weather conditions suggest that common lizards combine both recently acquired and stored resources to fuel reproduction. The effect of past energy store points out a trade-off between current and future reproduction.

HIV infection disrupts the sympatric host-pathogen relationship in human tuberculosis.

The phylogeographic population structure of Mycobacterium tuberculosis suggests local adaptation to sympatric human populations. We hypothesized that HIV infection, which induces immunodeficiency, will alter the sympatric relationship between M. tuberculosis and its human host. To test this hypothesis, we performed a nine-year nation-wide molecular-epidemiological study of HIV-infected and HIV-negative patients with tuberculosis (TB) between 2000 and 2008 in Switzerland. We analyzed 518 TB patients of whom 112 (21.6%) were HIV-infected and 233 (45.0%) were born in Europe. We found that among European-born TB patients, recent transmission was more likely to occur in sympatric compared to allopatric host-pathogen combinations (adjusted odds ratio [OR] 7.5, 95% confidence interval [95% CI] 1.21-infinity, p = 0.03). HIV infection was significantly associated with TB caused by an allopatric (as opposed to sympatric) M. tuberculosis lineage (OR 7.0, 95% CI 2.5-19.1, p<0.0001). This association remained when adjusting for frequent travelling, contact with foreigners, age, sex, and country of birth (adjusted OR 5.6, 95% CI 1.5-20.8, p = 0.01). Moreover, it became stronger with greater immunosuppression as defined by CD4 T-cell depletion and was not the result of increased social mixing in HIV-infected patients. Our observation was replicated in a second independent panel of 440 M. tuberculosis strains collected during a population-based study in the Canton of Bern between 1991 and 2011. In summary, these findings support a model for TB in which the stable relationship between the human host and its locally adapted M. tuberculosis is disrupted by HIV infection.

Genotype 3 is associated with accelerated fibrosis progression in chronic hepatitis C.

BACKGROUND/AIMS: While several risk factors for the histological progression of chronic hepatitis C have been identified, the contribution of HCV genotypes to liver fibrosis evolution remains controversial. The aim of this study was to assess independent predictors for fibrosis progression. METHODS: We identified 1189 patients from the Swiss Hepatitis C Cohort database with at least one biopsy prior to antiviral treatment and assessable date of infection. Stage-constant fibrosis progression rate was assessed using the ratio of fibrosis Metavir score to duration of infection. Stage-specific fibrosis progression rates were obtained using a Markov model. Risk factors were assessed by univariate and multivariate regression models. RESULTS: Independent risk factors for accelerated stage-constant fibrosis progression (>0.083 fibrosis units/year) included male sex (OR=1.60, [95% CI 1.21-2.12], P<0.001), age at infection (OR=1.08, [1.06-1.09], P<0.001), histological activity (OR=2.03, [1.54-2.68], P<0.001) and genotype 3 (OR=1.89, [1.37-2.61], P<0.001). Slower progression rates were observed in patients infected by blood transfusion (P=0.02) and invasive procedures or needle stick (P=0.03), compared to those infected by intravenous drug use. Maximum likelihood estimates (95% CI) of stage-specific progression rates (fibrosis units/year) for genotype 3 versus the other genotypes were: F0-->F1: 0.126 (0.106-0.145) versus 0.091 (0.083-0.100), F1-->F2: 0.099 (0.080-0.117) versus 0.065 (0.058-0.073), F2-->F3: 0.077 (0.058-0.096) versus 0.068 (0.057-0.080) and F3-->F4: 0.171 (0.106-0.236) versus 0.112 (0.083-0.142, overall P<0.001). CONCLUSIONS: This study shows a significant association of genotype 3 with accelerated fibrosis using both stage-constant and stage-specific estimates of fibrosis progression rates. This observation may have important consequences for the management of patients infected with this genotype.

Ins1 (Cre) knock-in mice for beta cell-specific gene recombination.

AIMS/HYPOTHESIS: Pancreatic beta cells play a central role in the control of glucose homeostasis by secreting insulin to stimulate glucose uptake by peripheral tissues. Understanding the molecular mechanisms that control beta cell function and plasticity has critical implications for the pathophysiology and therapy of major forms of diabetes. Selective gene inactivation in pancreatic beta cells, using the Cre-lox system, is a powerful approach to assess the role of particular genes in beta cells and their impact on whole body glucose homeostasis. Several Cre recombinase (Cre) deleter mice have been established to allow inactivation of genes in beta cells, but many show non-specific recombination in other cell types, often in the brain. METHODS: We describe the generation of Ins1 (Cre) and Ins1 (CreERT2) mice in which the Cre or Cre-oestrogen receptor fusion protein (CreERT2) recombinases have been introduced at the initiation codon of the Ins1 gene. RESULTS: We show that Ins1 (Cre) mice induce efficient and selective recombination of floxed genes in beta cells from the time of birth, with no recombination in the central nervous system. These mice have normal body weight and glucose homeostasis. Furthermore, we show that tamoxifen treatment of adult Ins1 (CreERT2) mice crossed with Rosa26-tdTomato mice induces efficient recombination in beta cells. CONCLUSIONS/INTERPRETATION: These two strains of deleter mice are useful new resources to investigate the molecular physiology of pancreatic beta cells.

Determining 241Pu in environmental samples: case studies in alpine soils.

A procedure was developed for determining 241Pu activity in environmental samples. This beta emitter isotope of plutonium was measured by ultra low level liquid scintillation, after several separation and purification steps that involved the use of a highly selective extraction chromatographic resin (Eichrom-TEVA). Due to the lack of reference material for 241Pu, the method was nevertheless validated using four IAEA reference sediments with information values for 241Pu. Next, the method was used to determine the 241Pu activity in alpine soils of Switzerland and France. The 241Pu/239,240Pu and 238Pu/239,240Pu activity ratios confirmed that Pu contamination in the tested alpine soils originated mainly from global fallout from nuclear weapon tests conducted in the fifties and sixties. Estimation of the date of the contamination, using the 241Pu/241Am age-dating method, further confirmed this origin. However, the 241Pu/241Am dating method was limited to samples where Pu-Am fractionation was insignificant. If any, the contribution of the Chernobyl accident is negligible.

Oxygen uptake kinetics and middle distance swimming performance.

OBJECTIVE: The aim of this study was to determine whether V˙O(2) kinetics and specifically, the time constant of transitions from rest to heavy (τ(p)H) and severe (τ(p)S) exercise intensities, are related to middle distance swimming performance. DESIGN: Fourteen highly trained male swimmers (mean ± SD: 20.5 ± 3.0 yr; 75.4 ± 12.4 kg; 1.80 ± 0.07 m) performed an discontinuous incremental test, as well as square wave transitions for heavy and severe swimming intensities, to determine V˙O(2) kinetics parameters using two exponential functions. METHODS: All the tests involved front-crawl swimming with breath-by-breath analysis using the Aquatrainer swimming snorkel. Endurance performance was recorded as the time taken to complete a 400 m freestyle swim within an official competition (T400), one month from the date of the other tests. RESULTS: T400 (Mean ± SD) (251.4 ± 12.4 s) was significantly correlated with τ(p)H (15.8 ± 4.8s; r=0.62; p=0.02) and τ(p)S (15.8 ± 4.7s; r=0.61; p=0.02). The best single predictor of 400 m freestyle time, out of the variables that were assessed, was the velocity at V˙O(2max)vV˙O(2max), which accounted for 80% of the variation in performance between swimmers. However, τ(p)H and V˙O(2max) were also found to influence the prediction of T400 when they were included in a regression model that involved respiratory parameters only. CONCLUSIONS: Faster kinetics during the primary phase of the V˙O(2) response is associated with better performance during middle-distance swimming. However, vV˙O(2max) appears to be a better predictor of T400.

Intégration de méthodes de data mining dans le renseignement criminel : analyse par des structures issues de la théorie des graphes dans le profilage des stupéfiants

Data mining can be defined as the extraction of previously unknown and potentially useful information from large datasets. The main principle is to devise computer programs that run through databases and automatically seek deterministic patterns. It is applied in different fields of application, e.g., remote sensing, biometry, speech recognition, but has seldom been applied to forensic case data. The intrinsic difficulty related to the use of such data lies in its heterogeneity, which comes from the many different sources of information. The aim of this study is to highlight potential uses of pattern recognition that would provide relevant results from a criminal intelligence point of view. The role of data mining within a global crime analysis methodology is to detect all types of structures in a dataset. Once filtered and interpreted, those structures can point to previously unseen criminal activities. The interpretation of patterns for intelligence purposes is the final stage of the process. It allows the researcher to validate the whole methodology and to refine each step if necessary. An application to cutting agents found in illicit drug seizures was performed. A combinatorial approach was done, using the presence and the absence of products. Methods coming from the graph theory field were used to extract patterns in data constituted by links between products and place and date of seizure. A data mining process completed using graphing techniques is called ``graph mining''. Patterns were detected that had to be interpreted and compared with preliminary knowledge to establish their relevancy. The illicit drug profiling process is actually an intelligence process that uses preliminary illicit drug classes to classify new samples. Methods proposed in this study could be used \textit{a priori} to compare structures from preliminary and post-detection patterns. This new knowledge of a repeated structure may provide valuable complementary information to profiling and become a source of intelligence.

Recessions and babie's health

We study the effect of the business cycle on the health of newborn babies using 30 years of birth certificate data for Spain. Exploiting regional variation over time, we find that babies are born healthier when the local unemployment rate is high. Although fertility is lower during recessions, the effect on health is not the result of selection (healthier mothers being more likely to conceive when unemployment is high). We match multiple births to the same parents and find that the main result survives the inclusion of parents fixed-effects. We then explore a range of maternal behaviors as potential channels. Fertility-age women do not appear to engage in significantly healthier behaviors during recessions (in terms of exercise, nutrition, smoking and drinking). However, they are more likely to be out of work. Maternal employment during pregnancy is in turn negatively correlated with babies' health. We conclude that maternal employment is a plausible mediating channel.

FY 2007 Biodiesel Fuel Revolving Fund Expenditures Report

The Seventy-ninth General Assembly of the State of Iowa, 2001 Regular Session, passed Senate File 465 which was signed by the Governor on April 19, 2001. This act created the biodiesel fuel revolving fund (Fund) to be used to purchase biodiesel fuel for use in the Department of Transportation's (DOT) vehicles. The act directed that the Fund receive money from the sale of EPA credits banked by the DOT on the effective date of the act, moneys appropriated by the General Assembly, and any other moneys obtained or accepted by the DOT for deposit in the Fund. The act also directed the DOT to submit an annual report not later than January 31 of the expenditures made from the Fund during the preceding fiscal year. This is the sixth annual report under the act. In FY 2007, the DOT purchased from the Fund 14,958 gallons of neat soy oil for $31,615, or an average of $2.11 per gallon. This yielded 74,791 gallons of B 20, which is 20 percent biodiesel by volume. Since the beginning of FY 2008, the Fund has received deposits totaling $59,000 which are being used for continued biodiesel purchases.

Desenvolvimentos estimados de custo amortizado e imparidade, segundo SNCRF - caso prático

O tema do Trabalho de Fim de Curso - “Desenvolvimentos Estimados de Custo Amortizado e Imparidade segundo SNCRF”, insere-se no âmbito da conclusão da Licenciatura em Contabilidade e Administração – Ramo Administração e Controlo Financeiro ministrada pelo ISCEE – Instituto Superior de Ciências Económicas e Empresariais. O trabalho ora apresentado, espelha uma análise sumária das normas internacionais e do novo normativo nacional no que diz respeito aos instrumentos financeiros com foco em tratamento contabilístico dado pelo método de custo amortizado e reconhecimento de perda por imparidade. Foi preparado com base em consulta de bibliografia especializada e normativos estabelecidos no país, pois permitirá ter acesso tanto a conteúdos teóricos como práticos o que implica um estudo mais abrangente de todos os recursos disponíveis. O desenvolvimento da temática foi orientado numa primeira etapa através de pesquisa necessária a construção do referencial teórico centrado por um lado na evolução teórica das normas internacionais sobre os instrumentos financeiros e consequentemente o tratamento dado pela nossa norma. Na segunda etapa, os casos práticos apresentam os principais casos de contabilização dos instrumentos financeiros utilizando o método de custo amortizado, e reconhecimento de imparidade de acordo com o SNCRF, e a conclusão que se chegou é que o custo amortizado implica a utilização do método de taxa de juro efectiva menos qualquer perda por imparidade, sendo que o método de taxa de juro efectiva distribui os pagamentos e recebimentos dos juros ao longo do período do instrumento financeiro aplicando a taxa de juro efectiva ao valor a transportar do activo ou de passivo de cada período, e uma entidade que usa o método de custo amortizado reconhece os activos financeiros e passivos financeiros pelo seu valor líquido no balanço, e à data de cada relato financeiro deve avaliar a imparidade de todos os activos financeiros e reconhecer perdas por imparidade, visto que, a imparidade representa uma redução no valor de um activo financeiro ou seja reflecte a depreciação (perda permanente) do valor de um activo financeiro e verifica quando a quantia recuperável for superior ao seu valor contabilístico.

FY08 Biodiesel Fuel Revolving Fund Expenditures Report

The Seventy-ninth General Assembly of the State of Iowa, 2001 Regular Session, passed Senate File 465 which was signed by the Governor on April 19, 2001. This act created the biodiesel fuel revolving fund (Fund) to be used to purchase biodiesel fuel for use in the Department of Transportation's (DOT) vehicles. The act directed that the Fund receive money from the sale of EPA credits banked by the DOT on the effective date of the act, moneys appropriated by the General Assembly, and any other moneys obtained or accepted by the DOT for deposit in the Fund. The act also directed the DOT to submit an annual report not later than January 31 of the expenditures made from the Fund during the preceding fiscal year. This is the seventh annual report under the act.