bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations
Authors: Pitt James J. , Peters Heidi , Boneh Avihu , Yaplito‐Lee Joy , Wieser Stefanie , Hinderhofer Katrin , Johnson David , Zschocke Johannes 
Published: December 2014

AbstractMitochondrial 3‐hydroxy‐3‐methylglutaryl CoA synthase (HMCS2) deficiency results in episodes of hypoglycemia and increases in fatty acid metabolites. Metabolite abnormalities described to date in HMCS2 deficiency are nonspecific and overlap with other inborn errors of metabolism, making the biochemical diagnosis of HMCS2 deficiency difficult. Urinary organic acid profiles from periods of metabolic decompensation were studied in detail in HMCS2‐deficient patients from four families. An additional six unrelated patients were identified from clinical presentation and/or qualitative identification of abnormal organic acids. The diagnosis was confirmed by sequencing and deletion/duplication analysis of the HMGCS2 gene. Seven related novel organic acids were identified in urine profiles. Five of them (3,5‐dihydroxyhexanoic 1,5 lactone; trans‐5‐hydroxyhex‐2‐enoate; 4‐hydroxy‐6‐methyl‐2‐pyrone; 5‐hydroxy‐3‐ketohexanoate; 3,5‐dihydroxyhexanoate) were identified by comparison with synthesized or commercial authentic compounds. We provisionally identified trans‐3‐hydroxyhex‐4‐enoate and 3‐hydroxy‐5‐ketohexanoate by their mass spectral characteristics. These metabolites were found in samples taken during periods of decompensation and normalized when patients recovered. When cutoffs of adipic >200 and 4‐hydroxy‐6‐methyl‐2‐pyrone >20 μmol/mmol creatinine were applied, all eight samples taken from five HMCS2‐deficient patients during episodes of decompensation were flagged with a positive predictive value of 80 % (95 % confidence interval 35–100 %). Some ketotic patients had increased 4‐hydroxy‐6‐methyl‐2‐pyrone. Molecular studies identified a total of 12 novel mutations, including a large deletion of HMGCS2 exon 1 in two families, highlighting the need to perform quantitative gene analyses. There are now 26 known HMGCS2 mutations, which are reviewed in the text. 4‐Hydroxy‐6‐methyl‐2‐pyrone and related metabolites are markers for HMCS2 deficiency. Detection of these metabolites will streamline the biochemical diagnosis of this disorder.
Pränataler Array
Authors: Held Karsten R. , Zahn Susanne 
Published: December 2014

Zusammenfassung
Wegen des Fehlens stringenter Indikationskriterien hat sich die Microarray-CGH in der Pränataldiagnostik nur schwer etablieren können. Auf der Basis der Ergebnisse von 4626 pränatalen Chromosomenanalysen wurden Kriterien für die Indikationsstellung zur Durchführung der Microarray-CGH in der Pränataldiagnostik festgelegt und 6 Indikationsstellungen definiert. Nach den festgelegten Indikationsstellungen wurden von insgesamt 14.766 pränatal durchgeführten zytogenetischen Untersuchungen 337 (2,3 %) mittels Microarray-CGH untersucht. Bei 279 Feten mit strukturellen Auffälligkeiten im Ultraschall betrug der Anteil gesichert pathogener CNV 7,9 % und bei 58 Feten mit auffälligen, nach konventioneller Diagnostik/FISH nicht eindeutigen zytogenetischen Befunden 56,9 %. Der mithilfe der Microarray-CGH gefundene Anteil von 16,3 % mit klinisch relevanten Imbalancen, welche mittels konventioneller Zytogenetik nicht oder nicht hinreichend diagnostiziert werden konnte, spricht für die Wirksamkeit der festgelegten Indikationsstellungen.
Biomechanical comparison of semi-rigid pediatric locking nail versus titanium elastic nails in a femur fracture model
Authors: Flinck Marianne , von Heideken Johan , Janarv Per-Mats , Wåtz Veronica , Riad Jacques 
Published: December 2014

Background The treatment for length-unstable diaphyseal femur fractures among school-age children is commonly intramedullary elastic nails, with or without end caps. Another possible treatment is the semi-rigid pediatric locking nail (PLN). The purpose of this biomechanical study was to assess the stability of a length-unstable oblique midshaft fracture in a synthetic femur model stabilized with different combinations of intramedullary elastic nails and with a PLN. Methods Twenty-four femur models with an intramedullary canal diameter of 10.0 mm were used. Three groups with various combinations of titanium elastic nails (TEN) with end caps and one group with a PLN were tested. An oblique midshaft fracture was created, and the models underwent compression, rotation, flexion/extension, and a varus/valgus test, with 50 and 100 % of the forces generated during walking in corresponding planes. Results We present the results [median (range)] from 100 % loading during walking. In axial compression, the PLN was less shortened than the combination with two 4.0-mm TEN [by 4.4 (3.4–5.4) mm vs. 5.2 (4.8–6.6) mm, respectively; p = 0.030]. No difference was found in shortening between the PLN and the four 3.0-mm TEN [by 7.0 (3.3–8.4) mm; p = 0.065]. The two 3.0-mm TEN did not withstand the maximum shortening of 10.0 mm. In external rotation, the PLN rotated 12.0° (7.0–16.4°) while the TEN models displaced more than the maximum of 20.0°. No model withstood a maximal rotation of 20.0° internal rotation. In the four-point bending test, in the coronal and the sagittal plane, all combinations except the two 3.0-mm TEN in extension withstood the maximum angulation of 20.0°. Conclusions PLN provides the greatest stability in all planes compared to TEN models with end caps, even though the difference from the two 4.0-mm or four 3.0-mm TEN models was small.
Can We Spin Straw Into Gold? An Evaluation of Immigrant Legal Status Imputation Approaches
Authors: Van Hook Jennifer , Bachmeier James D. , Coffman Donna L. , Harel Ofer 
Published: December 2014

AbstractResearchers have developed logical, demographic, and statistical strategies for imputing immigrants’ legal status, but these methods have never been empirically assessed. We used Monte Carlo simulations to test whether, and under what conditions, legal status imputation approaches yield unbiased estimates of the association of unauthorized status with health insurance coverage. We tested five methods under a range of missing data scenarios. Logical and demographic imputation methods yielded biased estimates across all missing data scenarios. Statistical imputation approaches yielded unbiased estimates only when unauthorized status was jointly observed with insurance coverage; when this condition was not met, these methods overestimated insurance coverage for unauthorized relative to legal immigrants. We next showed how bias can be reduced by incorporating prior information about unauthorized immigrants. Finally, we demonstrated the utility of the best-performing statistical method for increasing power. We used it to produce state/regional estimates of insurance coverage among unauthorized immigrants in the Current Population Survey, a data source that contains no direct measures of immigrants’ legal status. We conclude that commonly employed legal status imputation approaches are likely to produce biased estimates, but data and statistical methods exist that could substantially reduce these biases.
Universal curves in the center problem for Abel differential equations
Authors: BRUDNYI ALEXANDER 
Published: December 2014

We study the center problem for the class ${\mathcal{E}}_{{\rm\Gamma}}$ of Abel differential equations $dv/dt=a_{1}v^{2}+a_{2}v^{3}$, $a_{1},a_{2}\in L^{\infty }([0,T])$, such that images of Lipschitz paths $\tilde{A}:=(\int _{0}^{\cdot }a_{1}(s)\,ds,\int _{0}^{\cdot }a_{2}(s)\,ds):[0,T]\rightarrow \mathbb{R}^{2}$ belong to a fixed compact rectifiable curve ${\rm\Gamma}$. Such a curve is said to be universal if whenever an equation in ${\mathcal{E}}_{{\rm\Gamma}}$ has center on $[0,T]$, this center must be universal, i.e. all iterated integrals in coefficients $a_{1},a_{2}$ of this equation must vanish. We investigate some basic properties of universal curves. Our main results include an algebraic description of a universal curve in terms of a certain homomorphism of its fundamental group into the group of locally convergent invertible power series with the product being the composition of series, explicit examples of universal curves, and approximation of Lipschitz triangulable curves by universal ones.
COMPARATIVE PERSPECTIVES ON ARBITRARY DEPRIVATION OF NATIONALITY AND REFUGEE STATUS
Authors: Lambert Hélène 
Published: December 2014

AbstractThe question of whether arbitrary deprivation of nationality constitutes persecution for the purposes of a determination of refugee status has received increased attention in recent jurisprudence. However, no systematic argument has been made to date on the ordinary meaning of words, context, object and purpose of Article 1A(2) of the 1951 Convention Relating to the Status of Refugees as it applies to stateless refugees. This is an important question because the absence of determination procedures and a protection regime specifically for stateless persons in many jurisdictions makes refugee and/or complementary protection the only options. This article examines existing landmark judicial decisions worldwide, relevant UN documents, and academic writing on whether arbitrary deprivation of nationality, either on its own or when taken with other forms of harm, amounts to persecution within the meaning of Article 1A(2) of the 1951 Refugee Convention, and if so on what grounds. It concludes by suggesting when (arbitrary) deprivation of nationality should lead to a finding of persecution, based on good practice, and points to a global consensus on a new rights perspective concerning nationality.
Investigation ofATP6V1B1andATP6V0A4genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families
Authors: Zeinali F , Mohseni M , Fadaee M , Fattahi Z , Najmabadi H , Otukesh H , Kahrizi K 
Published: December 2014

AbstractBackground:Hearing defects are the most common sensory disorders, affecting 1 out of every 500 newborns.ATP6V1Bmutations are associated with early sensorineural hearing loss, whereasATP6V0A4mutations are classically associated with either late-onset sensorineural hearing loss or normal hearing.ATP6V1B1andATP6V0A4genetic mutations cause recessive forms of distal renal tubular acidosis.Method:Ten unrelated deaf Iranian families with distal renal tubular acidosis were referred to the Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran. All exons of theATP6V1B1andATP6V0A4genes were sequenced in affected family members.Results:We identified a previously reportedATP6V1B1frameshift mutation (P385fsX441) in two families and a nucleotide substitution in exon 10 (P346R) in three families. In addition, one patient was homozygous for a novel nucleotide substitution in exon 3.Conclusion:ATP6V1B1genetic mutations were detected in more than half of the families studied. Mutations in this gene therefore seem to be the most common causative factors in hearing loss associated with distal renal tubular acidosis in these families.
Diagnosis of incidental thyroid nodules on 18F-fluorodeoxyglucose positron emission tomography imaging: are these significant?
Authors: Sharma S D , Jacques T , Smith S , Watters G 
Published: December 2014

AbstractObjective:To determine the prevalence of thyroid malignancy in the first UK case series of patients with incidentally detected thyroid lesions on 18F-fluorodeoxyglucose positron emission tomography imaging.Methods:A total of 235 patients were evaluated with 18F-fluorodeoxyglucose positron emission tomography imaging. Incidental focal uptake in the thyroid gland was identified in nine patients (3.8 per cent). A retrospective review of their case notes was conducted.Results:The rate of malignancy was 55 per cent. The mean and standard deviation of the maximum standardised uptake value was 13.1 ± 7.3 in those patients with malignancy and a nodule identified as positive on positron emission tomography. This value was 2.8 ± 1.2 in those patients without malignancy but with a nodule identified as positive on positron emission tomography (p = 0.01). A palpable thyroid nodule was more likely in those with malignant lesions (p = 0.14).Conclusion:The prevalence of incidental thyroid lesions found on 18F-fluorodeoxyglucose positron emission tomography in patients with other primary malignancies is low, but the incidence of malignancy in these patients is high. Patients with a palpable thyroid nodule, focal uptake on 18F-fluorodeoxyglucose positron emission tomography and an increased maximum standardised uptake value require further investigation.
Strong terahertz radiation generation by beating of two x-mode spatial triangular lasers in magnetized plasma
Authors: Varshney Prateek , Sajal Vivek , Baliyan Sweta , Sharma Navneet K. , Chauhan Prashant K. , Kumar Ravindra 
Published: December 2014

AbstractResonant THz radiation generation is proposed by beating of two spatial-triangular laser pulses of different frequencies (ω1, ω2) and wave numbers $\lpar \vec k_1 \comma \; \vec k_2 \rpar $ in plasma having external static magnetic field. Laser pulses co-propagating perpendicular to a dc magnetic field exert a nonlinear ponderomotive force on plasma electrons, imparting them an oscillatory velocity with finite transverse and longitudinal components. Oscillatory plasma electrons couple with periodic density ripples n′ = nq0eiqz to produce a nonlinear current, i.e., responsible for resonantly driving terahertz radiation at $\lpar {\rm \omega} = {\rm \omega} _1 - {\rm \omega} _2 \comma \; \vec k = \vec k_1 - \vec k_2 + \vec q\rpar $. Effects of THz wave frequency, laser beam width, density ripples, and applied magnetic field are studied for the efficient THz radiation generation. The frequency and amplitude of THz radiation were observed to be better tuned by varying dc magnetic field strength and parameters of density ripples (amplitude and periodicity). An efficiency about 0.02 is achieved for laser intensity of 2 × 1015 W/cm2 in a plasma having density ripples about 30%, plasma frequency about 1 THz and magnetic field about 100 kG.
Organochlorine contaminants and polybrominated diphenyl ethers in eggs and embryos of Antarctic birds
Authors: Colabuono Fernanda I. , Taniguchi Satie , Petry Maria V. , Montone Rosalinda C. 
Published: December 2014

AbstractOrganochlorine contaminants (OCs) and polybrominated diphenyl ethers (PBDEs) were investigated in the eggs of five bird species from the South Shetland Islands. Additionally, OCs and PBDEs were also analysed in embryos of two species. The concentration ranges in eggs were (ng g-1wet weight) 2.11 to 541 for polychlorinated biphenyls (PCBs), <0.25 to 0.88 for PBDEs, 2.45 to 405 forp,p’-DDE and 1.50 to 603 for mirex. The PCBs were predominant in the eggs ofMacronectes giganteus,Catharacta antarcticaandLarus dominicanus, whereas hexachlorobenzene (HCB) was the major compound found in the eggs ofPygoscelis antarcticusandSterna vittata. The PBDE congeners were detected only in the eggs ofC. antarctica(PBDE 47 and 153) andS. vittata(PBDE 47). There were differences in OC concentrations of up to two orders of magnitude betweenM. giganteusembryos which were related to the development stage and OC concentrations in the respective eggs. Trophic ecology and post-breeding dispersal exerted an influence on contaminant patterns. Comparisons with data from the literature indicate an increase in the concentrations of some OCs over recent years.
New population estimates of a critically endangered species, the Balearic Shearwater Puffinus mauretanicus, based on coastal migration counts
Authors: ARROYO GONZALO M. , MATEOS-RODRÍGUEZ MARÍA , MUÑOZ ANTONIO R. , DE LA CRUZ ANDRÉS , CUENCA DAVID , ONRUBIA ALEJANDRO 
Published: December 2014

SummaryThe Balearic Shearwater Puffinus mauretanicus is considered one of the most threatened seabirds in the world, with the breeding population thought to be in the range of 2,000–3,200 breeding pairs, from which global population has been inferred as 10,000 to 15,000 birds. To test whether the actual population of Balearic Shearwaters is larger than presently thought, we analysed the data from four land-based census campaigns of Balearic Shearwater post-breeding migration through the Strait of Gibraltar (mid-May to mid-July 2007–2010). The raw results of the counts, covering from 37% to 67% of the daylight time throughout the migratory period, all revealed figures in excess of 12,000 birds, and went up to almost 18,000 in two years. Generalised Additive Models were used to estimate the numbers of birds passing during the time periods in which counts were not undertaken (count gaps), and their associated error. The addition of both counted and estimated birds reveals figures of between 23,780 and 26,535 Balearic Shearwaters migrating along the north coast of the Strait of Gibraltar in each of the four years of our study. The effects of several sources of bias suggest a slight potential underestimation in our results. These figures reveal the urgent need to reformulate the population viability analysis for the species, and then if necessary reconsider its conservation status.
Burden of Cardiovascular Morbidity and Mortality Following Humanitarian Emergencies: A Systematic Literature Review
Authors: Hayman Kaitlin G. , Sharma Davina , Wardlow Robert D. , Singh Sonal 
Published: December 2014

AbstractBackgroundThe global burden of cardiovascular mortality is increasing, as is the number of large-scale humanitarian emergencies. The interaction between these phenomena is not well understood. This review aims to clarify the relationship between humanitarian emergencies and cardiovascular morbidity and mortality.MethodsWith assistance from a research librarian, electronic databases (PubMed, Scopus, CINAHL, and Global Health) were searched in January 2014. Findings were supplemented by reviewing citations of included trials. Observational studies reporting the effect of natural disasters and conflict events on cardiovascular morbidity and mortality in adults since 1997 were included. Studies without a comparison group were not included. Double-data extraction was utilized to abstract information on acute coronary syndrome (ACS), acute decompensated heart failure (ADHF), and sudden cardiac death (SCD). Review Manager 5.0 (Version 5.2, The Nordic Cochrane Centre; Copenhagen Denmark,) was used to create figures for qualitative synthesis.ResultsThe search retrieved 1,697 unique records; 24 studies were included (17 studies of natural disasters and seven studies of conflict). These studies involved 14,583 cardiac events. All studies utilized retrospective designs: four were population-based, 15 were single-center, and five were multicenter studies. Twenty-three studies utilized historical controls in the primary analysis, and one utilized primarily geographical controls.DiscussionConflicts are associated with an increase in long-term morbidity from ACS; the short-term effects of conflict vary by study. Natural disasters exhibit heterogeneous effects, including increased occurrence of ACS, ADHF, and SCD.ConclusionsIn certain settings, humanitarian emergencies are associated with increased cardiac morbidity and mortality that may persist for years following the event. Humanitarian aid organizations should consider morbidity from noncommunicable disease when planning relief and recuperation projects.HaymanKG, SharmaD, WardlowRDII, SinghS. Burden of cardiovascular morbidity and mortality following humanitarian emergencies: a systematic literature review. Prehosp Disaster Med. 2015;30(1):1-9.
LARGE INTERVAL SOLUTION OF THE EMDEN–FOWLER EQUATION USING A MODIFIED ADOMIAN DECOMPOSITION METHOD WITH AN INTEGRATING FACTOR
Authors: LIN YINWEI , LU TZON-TZER , CHEN CHA’O-KUANG 
Published: December 2014

AbstractWe propose a new Adomian decomposition method (ADM) using an integrating factor for the Emden–Fowler equation. With this method, we are able to solve certain Emden–Fowler equations for which the traditional ADM fails. Numerical results obtained from testing our linear and nonlinear models are far more reliable and efficient than those from existing methods. We also present a complete error analysis and a convergence criterion for this method. One drawback of the traditional ADM is that the interval of convergence of the Adomian truncated series is very small. Some techniques, such as Pade approximants, can enlarge this interval, but they are too complicated. Here, we use a continuation technique to extend our method to a larger interval.
SOLVING INFINITE-HORIZON OPTIMAL CONTROL PROBLEMS USING THE HAAR WAVELET COLLOCATION METHOD
Authors: NAZEMI ALIREZA , MAHMOUDY NEDA 
Published: December 2014

AbstractWe consider infinite-horizon optimal control problems. The main idea is to convert the problem into an equivalent finite-horizon nonlinear optimal control problem. The resulting problem is then solved by means of a direct method using Haar wavelets. A local property of Haar wavelets is applied to simplify the calculation process. The accuracy of the present method is demonstrated by two illustrative examples.
THE EXPRESSIVE POWER OF TRUTH
Authors: FISCHER MARTIN , HORSTEN LEON 
Published: December 2014

AbstractThere are two perspectives from which formal theories can be viewed. On the one hand, one can take a theory to be about some privileged models. On the other hand, one can take all models of a theory to be on a par. In contrast with what is usually done in philosophical debates, we adopt the latter viewpoint. Suppose that from this perspective we want to add an adequate truth predicate to a background theory. Then on the one hand the truth theory ought to be semantically conservative over the background theory. At the same time, it is generally recognised that the central function of a truth predicate is an expressive one. A truth predicate ought to allow us to express propositions that we could not express before. In this article we argue that there are indeed natural truth theories which satisfy both the demand of semantical conservativeness and the demand of adequately extending the expressive power of our language.
SUPERVALUATION ON TREES FOR KRIPKE’S THEORY OF TRUTH
Authors: HANSEN CASPER STORM 
Published: December 2014

AbstractA method of supervaluation for Kripke’s theory of truth is presented. It differs from Kripke’s own method in that it employs trees; results in a compositional semantics; assigns the intuitively correct truth values to the sentences of a particularly tricky example of Gupta’s; and – it is argued – is acceptable as an explication of the correspondence theory of truth.
Distance to the Object and Social Representations: Replication and Further Evidences
Authors: Dany Lionel , Apostolidis Themis , Harabi Sofiene 
Published: December 2014

AbstractDistance to the object is a new approach that highlights the complex nature of the link between groups and social representations. It is composed of three elements: knowledge, involvement, and level of practices associated with the social object. This study aims to replicate a previous study that has demonstrated the validity of distance to the object in order to explore social representations of cannabis. We carried out a research on the social representations of cocaine. Respondents (n = 200) completed a questionnaire including opinions related to cocaine and constitutive elements of the distance to cocaine. The regression analysis on the representational dimensions revealed a significant effect of the distance variable on two dimensions (social facilitator, addiction and social dangerousness). The groups that were “distant” from the object showed stronger adherence to the normative component than to the functional component of SR, in opposition to those who were “close” to the object. The concept of distance to the object is thus heuristic as it offers an integrative grid of reading that permits to understand and highlight the link individuals maintain with a social representation.