Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes.

Inter-individual differences in gene expression are likely to account for an important fraction of phenotypic differences, including susceptibility to common disorders. Recent studies have shown extensive variation in gene expression levels in humans and other organisms, and that a fraction of this variation is under genetic control. We investigated the patterns of gene expression variation in a 25 Mb region of human chromosome 21, which has been associated with many Down syndrome (DS) phenotypes. Taqman real-time PCR was used to measure expression variation of 41 genes in lymphoblastoid cells of 40 unrelated individuals. For 25 genes found to be differentially expressed, additional analysis was performed in 10 CEPH families to determine heritabilities and map loci harboring regulatory variation. Seventy-six percent of the differentially expressed genes had significant heritabilities, and genomewide linkage analysis led to the identification of significant eQTLs for nine genes. Most eQTLs were in trans, with the best result (P=7.46 x 10(-8)) obtained for TMEM1 on chromosome 12q24.33. A cis-eQTL identified for CCT8 was validated by performing an association study in 60 individuals from the HapMap project. SNP rs965951 located within CCT8 was found to be significantly associated with its expression levels (P=2.5 x 10(-5)) confirming cis-regulatory variation. The results of our study provide a representative view of expression variation of chromosome 21 genes, identify loci involved in their regulation and suggest that genes, for which expression differences are significantly larger than 1.5-fold in control samples, are unlikely to be involved in DS-phenotypes present in all affected individuals.

Inbreeding effects on progeny sex ratio and gender variation in the gynodioecious Silene vulgaris (Caryophyllaceae).

In gynodioecious species, sex expression is generally determined through cytoplasmic male sterility genes interacting with nuclear restorers of the male function. With dominant restorers, there may be an excess of females in the progeny of self-fertilized compared with cross-fertilized hermaphrodites. Moreover, the effect of inbreeding on late stages of the life cycle remains poorly explored. Here, we used hermaphrodites of the gynodioecious Silene vulgaris originating from three populations located in different valleys in the Alps to investigate the effects of two generations of self- and cross-fertilization on sex ratio and gender variation. We detected an increase in females in the progeny of selfed compared with outcrossed hermaphrodites and inbreeding depression for female and male fertility. Male fertility correlated positively with sex ratio differences between outbred and inbred progeny, suggesting that dominant restorers are likely to influence male fertility qualitatively and quantitatively in S. vulgaris. We argue that the excess of females in the progeny of selfed compared with outcrossed hermaphrodites and inbreeding depression for gamete production may contribute to the maintenance of females in gynodioecious populations of S. vulgaris because purging of the genetic load is less likely to occur.

Regional variation in sex ratios and sex allocation in androdioecious Mercurialis annua.

In androdioecious metapopulations, where males co-occur with hermaphrodites, the absence of males from certain populations or regions may be explained by locally high selfing rates, high hermaphrodite outcross siring success (e.g. due to high pollen production by hermaphrodites), or to stochastic processes (e.g. the failure of males to invade populations or regions following colonization or range expansion by hermaphrodites). In the Iberian Peninsula and Morocco, the presence of males with hermaphrodites in the wind-pollinated androdioecious plant Mercurialis annua (Euphorbiaceae) varies both among populations within relatively small regions and among regions, with some regions lacking males from all populations. The species is known to have expanded its range into the Iberian Peninsula from a southern refugium. To account for variation in male presence in M. annua, we test the following hypotheses: (1) that males are absent in areas where plant densities are lower, because selfing rates should be correspondingly higher; (2) that males are absent in areas where hermaphrodites produce more pollen; and (3) that males are absent in areas where there is an elevated proportion of populations in which plant density and hermaphrodite pollen production disfavour their invasion. We found support for predictions two and three in Morocco (the putative Pleistocene refugium for M. annua) but no support for any hypothesis in Iberia (the expanded range). Our results are partially consistent with a hypothesis of sex-allocation equilibrium for populations in Morocco; in Iberia, the absence of males from large geographical regions is more consistent with a model of sex-ratio evolution in a metapopulation with recurrent population turnover. Our study points to the role of both frequency-dependent selection and contingencies imposed by colonization during range expansions and in metapopulations.

A Study to Examine the Attitudes of General Practitioners Towards Drug Users in the North East Region of Ireland

The research examines general practitioners attitudes and how these effect the management of drug misusers within their practice. The methodology is quantitative in approach. The instrument used is a structured postal questionnaire. Participants include all general practitioners within the North East region of Ireland. Anonymity and confidentiality of all respondents are guaranteed. Data was collected over a six week period, under the following headings - attitudes and beliefs, factors influencing treatment, treatment options, training and demographics. Attitudes and beliefs towards drug users were measured using a five point Likert scale ranging from strongly agrees to strongly disagree. The data was analysed with the aid of a computer package, SPSS allowing descriptive statistics to be presented. Results indicate that the majority of respondents are male. There appears to be sympathy towards drug users and that treatment approaches should be holistic. However, there appears to be a major lack of confidence in treating and managing drug misusers. Patient, social and practice factors all influence the decision to the drug misuser. Treatment options are varied, ranging from methadone maintenance to referral for residential treatment. However, a number of respondents offer no treatment for drug misusers. General practitioners do not feel adequately trained in treating and/or managing this client group. Results indicate that improved communication, ongoing education and more research is needed in this area.This resource was contributed by The National Documentation Centre on Drug Use.

Quantifying network properties in multi-electrode recordings: spatiotemporal characterization and inter-trial variation of evoked gamma oscillations in mouse somatosensory cortex in vitro.

Linking the structural connectivity of brain circuits to their cooperative dynamics and emergent functions is a central aim of neuroscience research. Graph theory has recently been applied to study the structure-function relationship of networks, where dynamical similarity of different nodes has been turned into a "static" functional connection. However, the capability of the brain to adapt, learn and process external stimuli requires a constant dynamical functional rewiring between circuitries and cell assemblies. Hence, we must capture the changes of network functional connectivity over time. Multi-electrode array data present a unique challenge within this framework. We study the dynamics of gamma oscillations in acute slices of the somatosensory cortex from juvenile mice recorded by planar multi-electrode arrays. Bursts of gamma oscillatory activity lasting a few hundred milliseconds could be initiated only by brief trains of electrical stimulations applied at the deepest cortical layers and simultaneously delivered at multiple locations. Local field potentials were used to study the spatio-temporal properties and the instantaneous synchronization profile of the gamma oscillatory activity, combined with current source density (CSD) analysis. Pair-wise differences in the oscillation phase were used to determine the presence of instantaneous synchronization between the different sites of the circuitry during the oscillatory period. Despite variation in the duration of the oscillatory response over successive trials, they showed a constant average power, suggesting that the rate of expenditure of energy during the gamma bursts is consistent across repeated stimulations. Within each gamma burst, the functional connectivity map reflected the columnar organization of the neocortex. Over successive trials, an apparently random rearrangement of the functional connectivity was observed, with a more stable columnar than horizontal organization. This work reveals new features of evoked gamma oscillations in developing cortex.

Introduction to Basic Health Care Statistics

A video summary by Catherine Comiskey

A framework for quality in long-term residential care for older people in Ireland / National Council on Ageing and Older People

In 1999 the National Council on Ageing and Older People commissioned a postal survey of all long-term residential care facilities in the country to determie: - whether facilities had quality initiatives in operation - providers' views and aspirations for future provision of long-term care - providers' views on the introduction of a national quality monitoring policy This report is the outcome of the programme of work conducted by the Council on the quality of long-term residential care provision for older people in Ireland. The aim of the report is to provide a framework for developing quality in long-term residential care settings with a focus on the well-being, dignity and autonomy of older residents.

Body temperature regulation and outcome after cardiac arrest and therapeutic hypothermia.

OBJECTIVE: Therapeutic temperature modulation is recommended after cardiac arrest (CA). However, body temperature (BT) regulation has not been extensively studied in this setting. We investigated BT variation in CA patients treated with therapeutic hypothermia (TH) and analyzed its impact on outcome. METHODS: A prospective cohort of comatose CA patients treated with TH (32-34°C, 24h) at the medical/surgical intensive care unit of the Lausanne University Hospital was studied. Spontaneous BT was recorded on hospital admission. The following variables were measured during and after TH: time to target temperature (TTT=time from hospital admission to induced BT target <34°C), cooling rate (spontaneous BT-induced BT target/TTT) and time of passive rewarming to normothermia. Associations of spontaneous and induced BT with in-hospital mortality were examined. RESULTS: A total of 177 patients (median age 61 years; median time to ROSC 25 min) were studied. Non-survivors (N=90, 51%) had lower spontaneous admission BT than survivors (median 34.5 [interquartile range 33.7-35.9]°C vs. 35.1 [34.4-35.8]°C, p=0.04). Accordingly, time to target temperature was shorter among non-survivors (200 [25-363]min vs. 270 [158-375]min, p=0.03); however, when adjusting for admission BT, cooling rates were comparable between the two outcome groups (0.4 [0.2-0.5]°C/h vs. 0.3 [0.2-0.4]°C/h, p=0.65). Longer duration of passive rewarming (600 [464-744]min vs. 479 [360-600]min, p<0.001) was associated with mortality. CONCLUSIONS: Lower spontaneous admission BT and longer time of passive rewarming were associated with in-hospital mortality after CA and TH. Impaired thermoregulation may be an important physiologic determinant of post-resuscitation disease and CA prognosis. When assessing the benefit of early cooling on outcome, future trials should adjust for patient admission temperature and use the cooling rate rather than the time to target temperature.

Variation and evolution of herkogamy in Exochaenium (Gentianaceae): implications for the evolution of distyly.

Backgrounds and Aims The spatial separation of stigmas and anthers (herkogamy) in flowering plants functions to reduce self-pollination and avoid interference between pollen dispersal and receipt. Little is known about the evolutionary relationships among the three main forms of herkogamy - approach, reverse and reciprocal herkogamy (distyly) - or about transitions to and from a non-herkogamous condition. This problem was examined in Exochaenium (Gentianaceae), a genus of African herbs that exhibits considerable variation in floral morphology, including the three forms of herkogamy. Methods Using maximum parsimony and maximum likelihood methods, the evolutionary history of herkogamic and non-herkogamic conditions was reconstructed from a molecular phylogeny of 15 species of Exochaenium and four outgroup taxa, based on three chloroplast regions, the nuclear ribosomal internal transcribed spacer (ITS1 and 2) and the 5·8S gene. Ancestral character states were determined and the reconstructions were used to evaluate competing models for the origin of reciprocal herkogamy. Key results Reciprocal herkogamy originated once in Exochaenium from an ancestor with approach herkogamy. Reverse herkogamy and the non-herkogamic condition homostyly were derived from heterostyly. Distylous species possessed pendent, slightly zygomorphic flowers, and the single transition to reverse herkogamy was associated with the hawkmoth pollination syndrome. Reductions in flower size characterized three of four independent transitions from reciprocal herkogamy to homostyly. Conclusions The results support Lloyd and Webb's model in which distyly originated from an ancestor with approach herkogamy. They also demonstrate the lability of sex organ deployment and implicate pollinators, or their absence, as playing an important role in driving transitions among herkogamic and non-herkogamic conditions.

Dementia Special Care Units in Residential Care Communities: United States, 2010

Assisted living and similar residential care communities provide an alternative to nursing homes for individuals with dementia who can no longer live independently .Individuals with dementia can live in residential care communities that have dementia special care units, or in a more traditional setting where these residents are integrated with residents without dementia. This report compares residential care communities with and without dementia special care units. Read more.

Variation of snail's abundance in two water bodies harboring strains of Pseudosuccinea columella resistant and susceptible to Fasciola hepatica miracidial infection, in Pinar del Río Province, Cuba

The abundance of freshwater snails in two rural sites of Pinar del Río, Cuba, which harbor Pseudosuccinea columella susceptible and resistant to miracidia of Fasciola hepatica was followed for one year. Susceptible snails were found in the most anthropic site (IPA) whereas the resistant population inhabited the most preserved one (El Azufre). Only two snail species coexisted with P. columella at IPA site (Physa cubensis and Tarebia granifera) while five species were found at El Azufre, including an endemic from that province (Hemisinus cubanianus). Populations of both resistant and susceptible snails showed stable densities throughout the year, although the susceptible strain attained higher abundance. The highest densities were observed in April-May 2004 for the susceptible population whereas the resistant strain attained its highest abundance in January 2004. No record of Fossaria cubensis was made and the thiarid T. granifera occurred only at low densities. One of the sampled sites (IPA) meets all the conditions for the first report of P. columella naturally infected with larvae of F. hepatica.

Statistics on Obesity, Physical Activity and Diet, England 2006

This is a statistical bulletin from the Information Centre which presents a range of information on obesity, physical activity and diet, drawn together from a variety of sources. The topics covered include: overweight and obesity prevalence among adults and children physical activity levels among adults and children trends in purchases and consumption of food and drink, and energy intake health outcomes of being obese hospital admissions and prescriptions dispensed related to obesity. The bulletin also summarises government plans and targets in this area, as well as providing sources of further information and links to relevant documents.

Statistics on obesity, physical activity and diet: England, January 2008

This statistical report from the Information Centre presents a range of information on obesity, physical activity and diet, drawn together from a variety of sources. The publication also summarises government plans and targets in this area, as well as providing sources of further information and links to relevant documents and key sources. There are several notable additions to this, The Information Centre's second report on obesity, physical activity and diet. Waist circumference analysis has been included where possible to reflect the importance of using this measurement in conjunction with Body Mass Index (BMI) in order to identify those at increased risk of health problems associated with obesity. More regional data is presented with a greater number of tables providing government office region and Strategic Health Authority breakdowns. Where possible information at a more local level has been reported on.