bluuebunny/crossref_metadata_2025 huggingface dataset:
Neurocognitive Impairment Across the Bipolar Spectrum
Authors: Sole B. , Bonnin C.M. , Torrent C. , Martinez‐Aran A. , Popovic D. , Tabarés‐Seisdedos R. , Vieta E.
Published: December 2011

Bipolar disorder is a severe mental illness that affects nearly 4.4% of the general population when bipolar spectrum disorders are taken into account. Neurocognitive impairment is thought to be a core deficit of this illness since it is present during euthymia. In fact, 40–60% of euthymic patients present with neurocognitive disturbances. Not only the clinical factors but also disturbances in neurocognition can influence the functional outcome of BD patients. Hence, further research is needed in order to clarify the relationship between these variables. Despite the growing body of evidence that has emerged during the last decade, no unique neurocognitive profile has been proposed yet for either BD subtype. The majority of the studies recluted heterogeneous samples (including both bipolar I and II) or focused on BD‐I patients only. The aim of this review is to give an overall picture of the main neurocognitive disturbances found in the bipolar spectrum and particularly in BD‐II, where the findings are more ambiguous. An extensive review of all the literature has been done regarding this subtype (from 1980 until July 2009). Data available until now suggest that deficits are present across the bipolar spectrum (BD‐I and BD‐II), but they seem slightly more severe in BD‐I. The extent to which either subtype share—or not—some similarities is still unknown. More studies are required but it would also be interesting to reach a consensus in the neuropsychological assessment of BD to facilitate comparisons between the different studies.
Detection of anti‐nuclear antibody by immunofluorescence assay and enzyme immunoassay in childhood systemic lupus erythematosus: experience from Bangladesh
Authors: DIPTI Tanjeem Rabika , AZAM Mohammad Shaiful , SATTAR Mohammad Humayun , RAHMAN Shahana Akhter
Published: December 2011

Background:  Systemic lupus erythematosus (SLE) is a multisystem, chronic but often episodic, autoimmune disease that is characterized by the presence of antinuclear antibodies (ANA). The criteria set by American College of Rheumatology are widely used for diagnosis of SLE. Elevation of ANA titer is the most sensitive of the ACR criteria. There are different methods for detection of ANA. Indirect immunofluorescence (ANA‐IFA) and enzyme immunoassay (ANA‐EIA) are commonly used methods. The sensitivity of ANA‐IFA using HEp‐2 cell substrate is 90–100% in systemic rheumatic diseases. In Bangladesh most of the laboratories use ANA‐EIA for detection of ANA. As the sensitivity of ANA‐EIA is lower than ANA‐IFA it might be that we are missing many cases of ANA positivity in childhood SLE cases.

Objectives:  To detect ANA by immunofluorescence assay using HEp‐2 cell substrate and enzyme immunoassay in childhood SLE and to compare the diagnostic performance of these methods.

Material and methods:  This is a cross‐sectional analytical study. A total of 40 patients were enrolled. Among them 20 were childhood SLE cases. Another 20 patients of childhood rheumatic diseases other than SLE were taken as the disease control group.

Result:  In childhood SLE cases, 100% were ANA‐positive by IFA and 55% were ANA positive by EIA. The sensitivity of ANA‐IFA was 100%. In contrast, sensitivity of ANA‐EIA was 55%.

Conclusion:  ANA‐IFA is superior to ANA‐EIA for detection of ANA in childhood SLE patients. ANA‐IFA should be the primary screening test for children with clinical features suggestive of SLE.
On the Ratchet Analysis of a Cracked Welded Pipe
Authors: Li Tianbai , Chen Haofeng , Chen Weihang , Ure James
Published: December 2011

This paper presents the ratchet limit analysis of a pipe with an axisymmetric circumferential crack in a mismatched weld by using the extended linear matching method (LMM). Two loading conditions are considered: (i) a cyclic temperature load and a constant internal pressure and (ii) a cyclic temperature load and a constant axial tension. Individual effects of (i) the geometry of the Weld Metal (WM), (ii) the size of the crack, (iii) the location of the crack, and (iv) the yield stress of WM on the ratchet limits, maximum temperature ranges to avoid ratchetting, and limit loads are investigated. Influence functions of the yield stress of WM on the maximum temperature ranges and limit loads are generated. The results confirm the applicability of the extended LMM to the cracked welded pipe.
Strigolactones: a new musician in the orchestra of plant hormones
Authors: Kohlen Wouter , Ruyter-Spira Carolien , Bouwmeester Harro J.
Published: December 2011

Strigolactones are known as germination stimulants for seeds of root parasitic plants of the Orobanchaceae and as the presymbiotic branching factor for arbuscular mycorrhizal fungi. They were also recently identified as a new class of plant hormones and have been the subject of many studies, leading to much advancement in our knowledge of how these molecules are involved in controlling plant development. In the first place, this concerns their role in the inhibition of shoot branching, but a number of studies have also revealed a role for strigolactones in shaping root system architecture or have suggested involvement of strigolactones in seed germination, hypocotyl elongation, and reproductive development. In all these studies, the interaction of strigolactones with other plant hormones such as auxin, abscisic acid, and ethylene is becoming clear. In this review we discuss the progress over the past 5 years in our understanding of the physiological role of strigolactones in the regulation of plant development.
Investigation on Evolutionary Computation Techniques of a Nonlinear System
Authors: Dao Tran Trong
Published: December 2011

The main aim of this work is to show that such a powerful optimizing tool like evolutionary algorithms (EAs) can be in reality used for the simulation and optimization of a nonlinear system. A nonlinear mathematical model is required to describe the dynamic behaviour of batch process; this justifies the use of evolutionary method of the EAs to deal with this process. Four algorithms from the field of artificial intelligent—differential evolution (DE), self‐organizing migrating algorithm (SOMA), genetic algorithm (GA), and simulated annealing (SA)—are used in this investigation. The results show that EAs are used successfully in the process optimization.
An Integrated Framework to Model Cellular Phenotype as a Component of Biochemical Networks
Authors: Gormley Michael , Akella Viswanadha U. , Quong Judy N. , Quong Andrew A.
Published: December 2011

Identification of regulatory molecules in signaling pathways is critical for understanding cellular behavior. Given the complexity of the transcriptional gene network, the relationship between molecular expression and phenotype is difficult to determine using reductionist experimental methods. Computational models provide the means to characterize regulatory mechanisms and predict phenotype in the context of gene networks. Integrating gene expression data with phenotypic data in transcriptional network models enables systematic identification of critical molecules in a biological network. We developed an approach based on fuzzy logic to model cell budding in Saccharomyces cerevisiae using time series expression microarray data of the cell cycle. Cell budding is a phenotype of viable cells undergoing division. Predicted interactions between gene expression and phenotype reflected known biological relationships. Dynamic simulation analysis reproduced the behavior of the yeast cell cycle and accurately identified genes and interactions which are essential for cell viability.
Suspected “T-Cell-Mediated” Hypereosinophilic Syndrome Presenting with Cerebral Watershed Infarcts
Authors: Dujardin S. , Schots R. , De Raedt S.
Published: December 2011

We describe a case of suspected “T-cell-mediated” hypereosinophilic syndrome presenting with cerebral watershed infarcts. An extensive search for potential embolic sources was negative, supporting the hypothesis that cerebrovascular endothelial dysfunction could have caused the infarcts.
An independent voice for children's rights in Europe? The role of independent children's rights institutions in the EU
Authors: Thomas Nigel A , Hanson Karl C , Gran Brian B
Published: December 2011

This article attempts to understand the distinctive role of independent human rights institutions for children (IHRICs) in Europe, in the context of the proposed EU strategy on the rights of the child. It begins by explaining the distinctive characteristics of IHRICs, their presence, location and organisation in Europe, and the role of the European Network of Ombudspersons for Children (ENOC). It goes on to examine their developing relationships, individually and collectively, with European institutions (in particular the institutions of the European Union, but also with reference to the Council of Europe). The article draws on observations of the annual conference of ENOC in 2010, and on interviews with members of ENOC. The article follows this with a discussion of how IHRICs may be understood as operating at the interface of regional, national, European and global mechanisms, and concludes with a review of current issues and some questions for future research.
Can the EU live up to the expectations of its child citizens?
Authors: Larkins Cath
Published: December 2011

There has been increasing interest in children's rights from the EU, seen in the Commission's 2006 Communication (COM(367) Final 2006), the Treaty of Lisbon 2009 and the Commission's 2011 Communication An EU Agenda for the Rights of the Child (COM(2011) 60 final). The Charter of Fundamental Rights of the European Union Article 24(1), states that children 'may express their views freely. Such views shall be taken into consideration on matters which concern them in accordance with their age and maturity.' The time is therefore ripe to address the views of children towards the EU, in the expectation that the EU may be ready to take them into consideration. In research in two EU Member States, fifty-five children aged 5 to 13 – in groups of refugee, minority ethnic, looked after, gypsy traveller, disabled and young caring children – developed claims for citizenship. This article looks at examples of the groups' claims in the context of EU policy, to explore what the EU could do to live up to the expectations of these young citizens.
Children's Rights in EU External Action: Beyond Charity and Protection, Beyond Instrumentalisation and Conditionality
Authors: Vandenhole Wouter
Published: December 2011

The inclusion of children in EU external action, though welcome in principle, has failed so far to avoid the pitfalls of instrumentalisation – by invoking children's rights to serve other goals; charity – by only setting up development projects for children; protection – by focusing exclusively on offering protection to children in situations of crisis or violence; and conditionality – by using the observance of children's rights as a condition for aid or trade. While instrumentalisation, charity and protection may apply to EU policies in general, the criticism of conditionality is more specific to external action. An alternative starting point is then proposed, i.e. that of children's rights obligations incumbent on the EU itself rather than on third countries, in order to move beyond instrumentalisation and conditionality. It is believed that the emerging concept of transnational children's rights obligations may provide a useful conceptual framework in this regard. These transnational obligations are based on the acceptance of a shared responsibility for children's rights, and oblige powerful actors minimally to abstain from violating children's rights.
The harmonisation of private law in Europe and children's tort liability: A case of fundamental and children's rights mainstreaming
Authors: Ferreira Nuno
Published: December 2011

The debate around private law harmonisation in the EU has gradually moved from a narrow scope of market-related issues to the creation of a European civil code. The relationship between this process and children's rights is, however, rarely acknowledged. The political, social and legal legitimacy of these harmonisation efforts have come under strict scrutiny, but hardly ever from the point of view of children. This article explores the impact of the process of legal harmonisation on children's rights, and uses the issue of children's tort liability as a case-study. The legal solutions in this field are analysed and compared, and the academic proposals for harmonisation are assessed. This choice of subject and approach allows us to assess the advisability of further harmonisation, illustrate the importance of socio-economic factors in this process, and highlight the relevance of children's rights and fundamental rights to this debate.
Constitutional developments after 1830: towards a balance between monarchical and popular sovereignty
Authors: Müßig Ulrike
Published: December 2011

The constitutional developments and debates during the first half of the 19th century, in particular following the French and Belgian revolutions of 1830 and the introduction of new written constitutions (the French Charte of 1830 and the Belgian constitution of 1831) show the dynamics between the Executive, still largely controlled by the monarch, and the parliamentary representation. Although the balance of power differed from one political system to another, the dual system established during the July Monarchy, which increasingly called for a government and government policies which were acceptable to both the monarch and a majority in Parliament, affected the developments throughout Europe.
Corporate Perceptions of Climate Science
Authors: Rothenberg Sandra , Levy David L.
Published: December 2011

Although there has been some growing recognition of the role of private actors in international environmental regimes, little attention has been paid to the role of the private sector at the science–policy interface. Because the automobile industry plays a crucial role in mitigation of greenhouse gases, successful policy requires not just the assent but the active cooperation of this sector. Such cooperation, however, requires some institutional acceptance that climate change is indeed a significant risk. In this article, the authors look at the early stages of the automobile industry’s engagement with the discourse on climate change. The authors focus, in particular, on the role of corporate scientists in two U.S. automobile companies in translating this discourse. Acting as boundary spanners and institutional entrepreneurs, these individuals influenced both corporate perceptions of and responses to climate change science.
Linguistic competences of learners of Dutch as a second language at the B1 and B2 levels of speaking proficiency of the Common European Framework of Reference for Languages (CEFR)
Authors: Hulstijn Jan H. , Schoonen Rob , de Jong Nivja H. , Steinel Margarita P. , Florijn Arjen
Published: December 2011

This study examines the associations between the speaking proficiency of 181 adult learners of Dutch as a second language and their linguistic competences. Performance in eight speaking tasks was rated on a scale of communicative adequacy. After extrapolation of these ratings to the Overall Oral Production scale of the Common European Framework of Reference for Languages (CEFR) (Council of Europe, 2001), 80 and 30 participants (on average per speaking task) were found to be, respectively, at the B1 and B2 levels of this scale. The following linguistic competences were tapped with non-communicative tasks: productive vocabulary knowledge, productive knowledge of grammar, speed of lexical retrieval, speed of articulation, speed of sentence building, and pronunciation skills. Discriminant analyses showed that all linguistic competences, except speed of articulation, discriminated participants at the two levels of oral production. Subsequent comparisons showed that the distance between B1ers and B2ers was smaller in knowledge of high-frequency words than in knowledge of medium- and low-frequency words. Extrapolation from scores on the vocabulary test yielded estimations of productive vocabularies of, on average, 4000 and 7000 words for B1ers and B2ers, respectively. The grammar test assessed grammatical knowledge in 10 domains. B2ers were found to outperform B1ers on all parts of the test. Thus, the differences in lexical and grammatical knowledge of B1ers and B2ers appear to be a matter of degree, rather than a matter of category or domain. The paper ends with a research agenda for a linguistic underpinning of the CEFR.
Out-of-hours medical care for terminally ill patients: A survey of availability and preferences of general practitioners
Authors: Hoexum Marjan , Bosveld Henk EP , Schuling Jan , Berendsen Annette J
Published: December 2011

Background:

Continuity of care is one of the core values of good medical care for terminally ill patients. The availability of one’s own general practitioner (GP) out of hours is regarded as important for personal continuity. Few data are available about the extent of out-of-hours care given by GPs to their terminally ill patients.

Aim:

The objective of this study was to determine to which level GPs are available out of hours for their own terminally ill patients and to elicit what factors are relevant to this availability.

Design and setting:

The research questions were investigated using a cross-sectional study of Dutch GPs. A questionnaire was sent to a random sample of 691 Dutch GPs.

Results:

The response rate was 47% ( n = 327). Of the respondents, 86% was willing to provide out-of-hours care for their own terminally ill patients. These figures are higher than reported in previous studies. This study shows that out-of-hours availability correlates most strongly with the GPs’ perception of duties of care. Availability is negatively influenced if the GP is in a salaried job, if he or she works in a city based practice, or if home is far from the practice. A correlation between age, sex, and experience of GPs and availability for out-of- hours care for their terminally ill patients was not confirmed.

Conclusions:

The reported out-of-hours availability of GPs for terminally ill patients is still high. GPs’ perception of their duty of care might change in the next generations, and the increasing number of salaried GPs, living far from their practice, might threaten out-of-hours availability for terminally ill patients. GPs’ perception of their duty of care might change in the next generations, and the increasing number of salaried GPs living far from their practice might threaten out-of-hours availability for terminally ill patients.
The role of paracetamol and nonsteroidal anti-inflammatory drugs in addition to WHO Step III opioids in the control of pain in advanced cancer. A systematic review of the literature
Authors: Nabal Maria , Librada Silvia , Redondo Maria Josè , Pigni Alessandra , Brunelli Cinzia , Caraceni Augusto
Published: December 2011

Background: Nonsteroidal anti-inflammatory drugs (NSAIDs) and paracetamol are used widely in the management of mild to moderate cancer pain and are frequently combined with opioids in the treatment of moderate to severe pain.

Aim: To perform a systematic literature review of the evidence of the efficacy and toxicity of NSAIDs or paracetamol added to WHO Step III opioid treatment for cancer pain.

Design and data sources: A systematic literature review of MedLine, EMBASE and Cochrane Central register of controlled trials database was carried out using both text words and MeSH/EMTREE terms.

Results: Seven eligible papers were retrieved from the new search and five from the Cochrane review. Five of seven studies showed an additive effect of NSAIDs when combined with opioids either by improving analgesia (three studies) or by reducing the opioid dose (two studies). Paracetamol was only marginally effective in one of five trials. The study designs were not adequate to assess differences in side effects between the opioids alone and opioids in combination with NSAIDs or paracetamol.

Conclusions: The evidence from the available clinical trials is of limited amount and quality, but it weakly supports the proposal that the addition of an NSAIDs to WHO Step III opioids can improve analgesia or reduce opioid dose requirement. There is insufficient evidence to support the use of paracetamol in combination with Step III opioids. Data on the toxicity of NSAIDs in this indication are insufficient owing to the small number of patients and the short duration of treatment reported in the studies.
Detoxification for medication overuse headache is not necessary
Authors: Diener Hans-Christoph
Published: December 2011

Background: Current textbook knowledge states that patients with chronic migraine and medication overuse should be withdrawn from acute medication before initiating preventive drug therapy.

Overview: This recommendation is based on the clinical impression that patients with chronic migraine and medication overuse are refractory to preventive therapy. Recently, however, four randomised trials, two with topiramate and two with onabotulinum toxin A, showed that about half of patients with chronic migraine and medication overuse will respond to these treatments and show both a reduction in migraine days and intake of acute medication.

Conclusions: Therefore, we propose to educate patients on the mechanisms of medication overuse and motivate them to reduce intake frequency. Patients who fail should be offered either topiramate or onabotulinum toxin A in combination with behavioural therapy and regular exercise. If this approach fails, patients should be offered withdrawal therapy.
A load–displacement prediction for a bended slotted disc using the energy method
Authors: Fawazi Noor , Lee Jung-Youn , Oh Jae-Eung
Published: December 2011

A slotted disc spring consists of two segments: a coned disc segment and a number of lever arm segments. In this study, a load–displacement formula for the slotted disc spring is newly developed in the form of energy method by considering both rigid and bending deflections of the two segments. This formula is developed with the aim to further improve the SAE formula which is limited to a straight slotted disc spring. The coned and the lever arm angles of the straight slotted disc spring are the same. They are different for a bended slotted disc spring. Because of this limitation, it is geometrically impractical to employ the SAE formula for a bended slotted disc spring. To achieve the goal of this study, new calculations based on geometric and material properties inputs are developed for a bended slotted disc spring. A firm background study based on the theory of Almen is presented in developing new load–displacement calculations for a bended slotted disc spring.
0 + 1 > 1
Authors: Kim Robyn , Peters Megan A.K. , Shams Ladan
Published: December 2011

It is well known that the nervous system combines information from different cues within and across sensory modalities to improve performance on perceptual tasks. In this article, we present results showing that in a visual motion-detection task, concurrent auditory motion stimuli improve accuracy even when they do not provide any useful information for the task. When participants judged which of two stimulus intervals contained visual coherent motion, the addition of identical moving sounds to both intervals improved accuracy. However, this enhancement occurred only with sounds that moved in the same direction as the visual motion. Therefore, it appears that the observed benefit of auditory stimulation is due to auditory-visual interactions at a sensory level. Thus, auditory and visual motion-processing pathways interact at a sensory-representation level in addition to the level at which perceptual estimates are combined.
Wrinkling in sandwich panels – an analytical approach
Authors: Koissin Vitaly , Shipsha Andrey , Skvortsov Vitaly
Published: December 2011

This article deals with theoretical modeling of the local buckling in foam–core sandwich panels. This phenomenon is considered mainly in the periodic (unbounded wrinkle wave) and linearly elastic formulation. The analytical solutions are in agreement with results of finite element analysis and can be applied with a good precision for many finite-size panels, as well as for many sandwiches having honeycomb cores.
Slurry erosion studies of hydroturbine steels under hydroaccelerated conditions
Authors: Bhandari Sanjeev , Singh Harpreet , Kansal Harmesh Kumar , Rastogi Vikas
Published: December 2011

Degradation of the hydroturbine components due to slurry erosion is a serious issue, especially for the hydropower plants situated on the rivers originating from Himalayas in India. In the current investigation, slurry erosion performance of two stainless steels (CA6NM and CF8M), which are commonly used in hydroturbine power plants, has been studied. A high-speed erosion test apparatus was used for the studies. Slurry collected from an actual hydropower plant was used as the abrasive media in the test apparatus. The effect of slurry concentration (ppm), average particle size of slurry particles and rotational speed on the slurry erosion behaviour was investigated under different experimental conditions. The analysis of eroded samples was done using scanning electron microscopy (SEM) and stylus profilometry. SEM images showed signatures of formation of lips, ploughing, crater and microcutting on eroded surface of steels.
Use of the Telephone-Administered Minnesota Cognitive Acuity Screen to Detect Mild Cognitive Impairment
Authors: Tremont Geoffrey , Papandonatos George D. , Springate Beth , Huminski Brooke , McQuiggan Michael D. , Grace Janet , Frakey Laura , Ott Brian R.
Published: December 2011

This study determined the sensitivity and specificity of the telephone-administered Minnesota Cognitive Acuity Screen (MCAS) to distinguish mild cognitive impairment (MCI) from healthy controls (HCs) and from Alzheimer’s disease (AD). A total of 100 individuals with MCI, 50 individuals with possible/probable AD, and 50 HCs were screened to exclude medical and psychiatric conditions affecting cognition. In-office evaluation included neuropsychological testing, neurologic examination, and neurodiagnostic work-up. Participants with AD obtained significantly lower MCAS total scores than participants with MCI, who in turn performed worse than the HC group. Sensitivity was 86% and specificity was 78% for distinguishing between MCI and HC. Sensitivity was 86% and specificity was 77% for discriminating between MCI and AD. Sensitivity was 91% and specificity was 78% for discriminating between impaired groups (MCI and AD) and HCs. Results suggest that the MCAS successfully discriminates MCI from HC and AD and has potential as an effective telephone-administered screening tool for memory disorders.
Successful identification of rare variants using oligogenic segregation analysis as a prioritizing tool for whole-exome sequencing studies
Authors: Gagnon France , Roslin Nicole M , Lemire Mathieu
Published: December 2011

We aim to identify rare variants that have large effects on trait variance using a cost-efficient strategy. We use an oligogenic segregation analysis as a prioritizing tool for whole-exome sequencing studies to identify families more likely to harbor rare variants, by estimating the mean number of quantitative trait loci (QTLs) in each family. We hypothesize that families with additional QTLs, relative to the other families, are more likely to segregate functional rare variants. We test the association of rare variants with the traits only in regions where at least modest evidence of linkage with the trait is observed, thereby reducing the number of tests performed. We found that family 7 harbored an estimated two, one, and zero additional QTLs for traits Q1, Q2, and Q4, respectively. Two rare variants (C4S4935 and C6S2981) segregating in family 7 were associated with Q1 and explained a substantial proportion of the observed linkage signal. These rare variants have 31 and 22 carriers, respectively, in the 128-member family and entered through a single but different founder. For Q2, we found one rare variant unique to family 7 that showed small effect and weak evidence of association; this was a false positive. These results are a proof of principle that prioritizing the sequencing of carefully selected extended families is a simple and cost-efficient design strategy for sequencing studies aiming at identifying functional rare variants.
Identity by descent and association analysis of dichotomous traits based on large pedigrees
Authors: Liu Tian , Thalamuthu Anbupalam
Published: December 2011

The goals of our analysis were to map functional loci, which contribute to the case-control status of a trait of interest, using large pedigrees. We used logistic regression fitted with the generalized estimation equation to test associations between a dichotomous phenotype and all genotyped common and rare single-nucleotide polymorphisms. In addition to the association study, we also developed and applied a simple and fast identical-by-descent-based test to identify loci that were shared among affected individuals more often than expected by chance. Among the top significant loci, we assessed the statistical power and the false discovery rate of both methods. We also demonstrated that family-based studies, compared with the standard population-based association studies, have great values and advantages for the discovery of multiple rare causal variants.
Estimating heritability using family and unrelated individuals data
Authors: Shetty Priya B , Qin Huaizhen , Namkung Junghyun , Elston Robert C , Zhu Xiaofeng
Published: December 2011

For the family data from Genetic Analysis Workshop 17, we obtained heritability estimates of quantitative traits Q1 and Q4 using the ASSOC program in the S.A.G.E. software package. ASSOC is a family-based method that estimates heritability through the estimation of variance components. The covariate-adjusted mean heritability was 0.650 for Q1 and 0.745 for Q4. For the unrelated individuals data, we estimated the heritability of Q1 as the proportion of total variance that can be accounted for by all single-nucleotide polymorphisms under an additive model. We examined a novel ordinary least-squares method, a naïve restricted maximum-likelihood method, and a calibrated restricted maximum-likelihood method. We applied the different methods to all 200 replicates for Q1. We observed that the ordinary least-squares method yielded many estimates outside the interval [0, 1]. The restricted maximum-likelihood estimates were more stable than the ordinary least-squares estimates. The naïve restricted maximum-likelihood method yielded an average estimate of 0.462 ± 0.1, and the calibrated restricted maximum-likelihood method yielded an average of 0.535 ± 0.121. Our results demonstrate discrepancies in heritability estimates using the family data and the unrelated individuals data.
Genome-wide association analysis of GAW17 data using an empirical Bayes variable selection
Authors: Pungpapong Vitara , Wang Libo , Lin Yanzhu , Zhang Dabao , Zhang Min
Published: December 2011

Next-generation sequencing technologies enable us to explore rare functional variants. However, most current statistical techniques are too underpowered to capture signals of rare variants in genome-wide association studies. We propose a supervised coalescing of single-nucleotide polymorphisms to obtain gene-based markers that can stably reveal possible genetic effects related to rare alleles. We use a newly developed empirical Bayes variable selection algorithm to identify associations between studied traits and genetic markers. Using our novel method, we analyzed the three continuous phenotypes in the GAW17 data set across 200 replicates, with intriguing results.
A Single-Nucleotide Polymorphism in the EAP1 Gene Is Associated with Amenorrhea/Oligomenorrhea in Nonhuman Primates
Authors: Lomniczi Alejandro , Garcia-Rudaz Cecilia , Ramakrishnan Ranjani , Wilmot Beth , Khouangsathiene Samone , Ferguson Betsy , Dissen Gregory A. , Ojeda Sergio R.
Published: December 2011

Current evidence suggests that the acquisition of female reproductive capacity and the maintenance of mature reproductive function are related processes transcriptionally regulated by gene networks operating within the neuroendocrine brain. One of these genes, termed enhanced at puberty 1 (EAP1), encodes an upstream regulator of these processes. Selective inhibition of EAP1 expression in discrete regions of the rat and nonhuman primate (NHP) hypothalamus, via targeted delivery of RNA interference, either disrupts (rats) or abolishes (monkeys) reproductive cycles. The striking loss of menstrual cyclicity resulting from knocking down hypothalamic EAP1 expression suggests that diminished EAP1 function may contribute to disorders of the menstrual cycle of neuroendocrine origin. Here we show that a single-nucleotide polymorphism in the 5′-flanking region of EAP1 gene is associated with increased incidence of amenorrhea/oligomenorrhea in NHP. In the presence of the risk allele, binding of the transcription factor mothers against decapentaplegic homolog 3 (SMAD3) to its recognition site contained within the polymorphic sequence in the monkey EAP1 promoter is reduced. The risk allele also diminishes the increase in EAP1 promoter activity elicited by TGFβ1, a peptide that activates a SMAD3/4-mediated signaling pathway to regulate gene transcription. These findings indicate that common genetic variation in the EAP1 locus increases the susceptibility of NHP to loss/disruption of menstrual cyclicity. They also raise the possibility that polymorphisms in EAP1 may increase the risk of functional hypothalamic amenorrhea in humans.
Hypothalamic EAP1 (Enhanced at Puberty 1) Is Required for Menstrual Cyclicity in Nonhuman Primates
Authors: Dissen Gregory A. , Lomniczi Alejandro , Heger Sabine , Neff Tanaya L. , Ojeda Sergio R.
Published: December 2011

Mammalian reproductive cyclicity requires the periodic discharge of GnRH from hypothalamic neurons into the portal vessels connecting the neuroendocrine brain to the pituitary gland. GnRH secretion is, in turn, controlled by changes in neuronal and glial inputs to GnRH-producing neurons. The transcriptional control of this process is not well understood, but it appears to involve several genes. One of them, termed enhanced at puberty 1 (EAP1), has been postulated to function in the female hypothalamus as an upstream regulator of neuroendocrine reproductive function. RNA interference-mediated inhibition of EAP1 expression, targeted to the preoptic region, delays puberty and disrupts estrous cyclicity in rodents, suggesting that EAP1 is required for the normalcy of these events. Here, we show that knocking down EAP1 expression in a region of the medial basal hypothalamus that includes the arcuate nucleus, via lentiviral-mediated delivery of RNA interference, results in cessation of menstrual cyclicity in female rhesus monkeys undergoing regular menstrual cycles. Neither lentiviruses encoding an unrelated small interfering RNA nor the placement of viral particles carrying EAP1 small interfering RNA outside the medial basal hypothalamus-arcuate nucleus region affected menstrual cycles, indicating that region-specific expression of EAP1 in the hypothalamus is required for menstrual cyclicity in higher primates. The cellular mechanism by which EAP1 exerts this function is unknown, but the recent finding that EAP1 is an integral component of a powerful transcriptional-repressive complex suggests that EAP1 may control reproductive cyclicity by inhibiting downstream repressor genes involved in the neuroendocrine control of reproductive function.
Elective and emergency cervical cerclage and immediate pregnancy outcomes: a retrospective observational study
Authors: Liddiard Andrea , Bhattacharya Sohinee , Crichton Lena
Published: December 2011

Objectives

To look retrospectively at patients undergoing elective, ultrasound indicated and rescue cervical cerclage, examine the immediate pregnancy outcomes and compare them.

Design

This was a retrospective observational study using the maternity and neonatal databank to identify patients having cervical cerclage between 1985 and 2009 inclusive. Data extracted included patient demographics, gestation of suture insertion, gestation at delivery, mode of delivery and initial pregnancy outcome. Further information on selected patients having cerclages over 16 weeks gestation was collected from case-notes.

Setting

Aberdeen Maternity Hospital, North East Scotland.

Participants

All patients having cervical cerclage between 1985 and 2009.

Main outcome measures

Gestation at delivery, live birth rate and birth weight.

Results

A total of 177 sutures were inserted – 116 electively and 61 as an emergency procedure. Time trends of cervical cerclage revealed a bimodal distribution and in the last four years there has been a general increase in the number of emergency sutures while the number of elective cerclages has remained relatively constant. There was little difference in the gestation at delivery between the elective and emergency cerclage groups (35 and 33 weeks, respectively), live birth rate (93% and 92%, respectively) and the difference in mean birth weight did not reach statistical significance. Case-notes were obtained for 25 patients undergoing ultrasound indicated cerclage and nine patients undergoing rescue cerclage. There was a higher suture associated complication rate in the rescue cerclage group (33% vs. 12% in the ultrasound indicated cerclage group) and the mean gestation of delivery was lower (26 weeks vs. 32 weeks). The birth weight was significantly lower and the neonatal death rate higher in the rescue cerclage group.

Conclusions

Elective and ultrasound indicated cervical cerclage appear to have low complication rates and high live birth rates. Rescue cerclage has a high complication rate and is therefore associated with poor outcome.
Conceitos e estrutura mental
Authors: Oliveira Marcos Barbosa de
Published: December 2011

O objetivo da palestra foi o de apresentar um apanhado sucinto da história das investigações sobre conceitos nas últimas décadas, com isso contribuindo para a divulgação da Ciência Cognitiva. O episódio central dessa história é a guinada resultante das pesquisas realizadas por Eleonor Rosch e outros a partir do inicio dos anos setenta. Estas pesquisas colocam em cheque a CONCEPÇÃO CLÁSSICA DE CONCEITOS (caracterizada na primeira parte da exposição). O fato de que o abandono da concepção clássica não é uma alternativa viável, dá origem ao que chamamos de PROBLEMA DA CONCILIAÇÃO, ou seja, o de compatibilizar a concepção clássica com as descobertas modernas. A apresentação se encerra com algumas sugestões para a solução do problema.
Razão e irracionalidade na representação do conhecimento
Authors: Carnielli Walter A , Marques Mamede Lima
Published: December 2011

Como é possível que a partir da negação do racional (isto é, do colapso na representação do conhecimento, dado pela presença de informações contraditórias) se possa obter conhecimento adicional? Esse problema, além de seu interesse intrínseco, adquire uma relevância adicional quando o encontramos na representação do conhecimento em bases de dados e raciocínio automático, por exemplo. Nesse caso, diversas tentativas de tratamento têm sido propostas, como as lógicas não-monotônicas, as lógicas que tentam formalizar a ideia do raciocínio por falha (default). Tais tentativas de solução, porém, são falhas e incompletas; proponho que uma solução possível seria formular uma lógica do irracional, que oferecesse um modelo para o raciocínio permitindo não só suportar contradições, como conseguir obter conhecimento, a partir de tais situações. A intuição subjacente à formulação de tal lógica são as lógicas paraconsistentes de da Costa, mas com uma teoria da dedução diferente e uma semântica completamente distinta (à qual me refiro como "semântica de traduções possíveis"). Tal proposta, como pretendo argumentar, fornece um enfoque para a questão que é ao mesmo tempo completamente satisfatório, aplicável do ponto de vista prático e aceitável do ponto de vista filosófico.
Qualidade do cuidado ao acidente vascular cerebral isquêmico no SUS
Authors: Rolim Cristina Lúcia Rocha Cubas , Martins Monica
Published: December 2011

A taxa de mortalidade hospitalar é uma medida do resultado do cuidado, utilizada como indicador da qualidade do cuidado para o acidente vascular cerebral (AVC). A tomografia computadorizada é o principal método de imagem utilizado para o diagnóstico e condução terapêutica dessa patologia. O objetivo deste artigo é avaliar a qualidade do cuidado hospitalar ao AVC isquêmico (AVCi) agudo no SUS, considerando o perfil de gravidade dos casos e a realização de tomografia computadorizada. Análise multivariada foi empregada para ajustar a mortalidade por risco, avaliar o uso de tomografia e classificar o desempenho dos hospitais no período entre abril de 2006 e dezembro de 2007. 16.879 internações foram analisadas. A realização de, pelo menos, um exame de tomografia computadorizada equivaleu a 28,6% das internações. A taxa de mortalidade bruta foi 34,3%, e a taxa ajustada, 31,2%. A realização de exame de tomografia computadorizada apresentou um efeito protetor: OR ajustado de 0,27 para um exame e de 0,32 para a realização de dois exames. A subutilização da tomografia computadorizada é um dos fatores limitantes para a boa prática médica no tratamento do AVCi no SUS.
Public perception of ex-mental patients.
Authors: Fracchia J , Sheppard C , Canale D , Cambria E , Ruest E , Merlis S
Published: December 2011

Data are presented from two studies which show that perceptions of ex-mental patients appear to derive from a lack of information and that the provision of information alters the perception of former patients. Perceived unpredictability of behavior and dangerousness seem to form a dyad that causes the public to fear the mentally ill. More positive perceptions of mildly ill ex-mental patients were obtained when subjects were given short paragraphs describing typical behaviors and symptoms. These findings support the notion that a fear-motivated threat recoil cycle process is likely to be evoked by attempts to establish locally based treatment facilities, particularly in residential communities.
Maternal age and overdue conceptions.
Authors: Hendershot G E
Published: December 2011

Data from the National Survey of Family Growth, Cycles I and II, are used to describe the level and trend in the incidence of births resulting from pregnancies which began later than desired. Overdue births were about 12 per cent of the total in 1973-75, and the trend was upward, especially among mothers over 25. Pregnancies 12 months or more overdue were more common among mothers over 30 than younger mothers. Analysis of waiting times to conception among women who scheduled intercourse for the monthly fertile period suggests that a decline in fecundity after age 30 may be a factor in overdue births.
Overutilization of the general hospital emergency room for psychiatric referrals in an Israeli hospital.
Authors: Vigiser D , Apter A , Aviram U , Maoz B
Published: December 2011

Consecutive referrals numbering 177 to the psychiatrist in an Israeli general hospital emergency room (ER) over a two-month period were evaluated. Only one-third met our criteria of justifiability. When the general practitioner (GP) was the referral source, we considered only 29 per cent of cases justified as compared to 70 per cent of the self-referrals. A combination of poor understanding by the GP of when to refer urgently, efforts by the GP to bypass clinic waiting lists, and lack of alternative community facilities may have accounted for this finding.
Discovery of asymptomatic moyamoya arteriopathy in pediatric syndromic populations: radiographic and clinical progression
Authors: Lin Ning , Baird Lissa , Koss McKenzie , Kopecky Kimberly E. , Gone Evelyne , Ullrich Nicole J. , Scott R. Michael , Smith Edward R.
Published: December 2011

Object

Limited data exist to guide management of incidentally discovered pediatric moyamoya. Best exemplified in the setting of unilateral moyamoya, in which the unaffected side is monitored, this phenomenon also occurs in populations undergoing routine surveillance of the cerebral vasculature for other conditions, such as sickle cell disease (SCD) or neurofibromatosis Type 1 (NF1). The authors present their experience with specific syndromic moyamoya populations to better characterize the natural history of radiographic and clinical progression in patients with asymptomatic moyamoya.

Methods

The authors performed a retrospective review of the clinical database of the neurosurgery department at Children's Hospital Boston, including both nonoperative referrals and a consecutive series of 418 patients who underwent surgical revascularization for moyamoya disease between 1988 and 2010.

Results

Within the period of time studied, 83 patients were asymptomatic at the time of radiographic diagnosis of moyamoya, while also having either unilateral moyamoya or moyamoya in association with either SCD or NF1. The mean age at presentation was 9.1 years (range 1–21 years), and there were 49 female (59%) and 34 male (41%) patients. The mean follow-up duration was 5.4 ± 3.8 years (mean ± SD), with 45 patients (54%) demonstrating radiographic progression and 37 (45%) becoming symptomatic within this period. Patients with SCD had the highest incidence of both radiographic (15 patients [75%]) and clinical (13 patients [65%]) progression, followed by NF1 (20 patients [59%] with radiographic progression and 15 patients [44%] with clinical progression) and patients with unilateral moyamoya (10 patients [35%] with radiographic progression and 9 patients [31%] with clinical progression).

Conclusions

Radiographic progression occurred in the majority of asymptomatic patients and generally heralded subsequent clinical symptoms. These data demonstrate that moyamoya is a progressive disorder, even in asymptomatic populations, and support the rationale of early surgical intervention to minimize morbidity from stroke.