bluuebunny/crossref_metadata_2025_split 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

SUMMARYBipolar 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

Abstract
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.
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

AbstractThis 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

AbstractThere 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

AbstractThe 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

AbstractThe 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

AbstractThe 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.
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.
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

Abstract
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

Abstract
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

Abstract
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

Abstract
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.
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.
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.