bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub‐Saharan Africa
Authors: Butali Azeez , Mossey Peter A. , Adeyemo Wasiu L. , Eshete Mekonen A. , Gaines LauRen A. , Even Dee , Braimah Ramat O. , Aregbesola Babatunde S. , Rigdon Jennifer V. , Emeka Christian I. , James Olutayo , Ogunlewe Mobolanle O. , Ladeinde Akinola L. , Abate Fikre , Hailu Taye , Mohammed Ibrahim , Gravem Paul E. , Deribew Milliard , Gesses Mulualem , Adeyemo Adebowale A. , Murray Jeffrey C. 
Published: January 2014

AbstractOrofacial clefts (OFC) are complex genetic traits that are often classified as syndromic or nonsyndromic clefts. Currently, there are over 500 types of syndromic clefts in the Online Mendelian Inheritance in Man (OMIM) database, of which Van der Woude syndrome (VWS) is one of the most common (accounting for 2% of all OFC). Popliteal pterygium syndrome (PPS) is considered to be a more severe form of VWS. Mutations in the IRF6 gene have been reported worldwide to cause VWS and PPS. Here, we report studies of families with VWS and PPS in sub‐Saharan Africa. We screened the DNA of eight families with VWS and one family with PPS from Nigeria and Ethiopia by Sanger sequencing of the most commonly affected exons in IRF6 (exons 3, 4, 7, and 9). For the VWS families, we found a novel nonsense variant in exon 4 (p.Lys66X), a novel splice‐site variant in exon 4 (p.Pro126Pro), a novel missense variant in exon 4 (p.Phe230Leu), a previously reported splice‐site variant in exon 7 that changes the acceptor splice site, and a known missense variant in exon 7 (p.Leu251Pro). A previously known missense variant was found in exon 4 (p.Arg84His) in the PPS family. All the mutations segregate in the families. Our data confirm the presence of IRF6‐related VWS and PPS in sub‐Saharan Africa and highlights the importance of screening for novel mutations in known genes when studying diverse global populations. This is important for counseling and prenatal diagnosis for high‐risk families.
Quantized output feedback control with multiplicative measurement noises
Authors: Wei Li , Fu Minyue , Zhang Huanshui 
Published: January 2014

SummaryIn this paper, we consider the problem of quantized quadratic performance control for a class of stochastic systems, which are subject to multiplicative noises in the measurement. A dynamic output feedback controller is designed to guarantee a given level of performance. By using the sector bound approach to characterize the quantization error, the existence of a solution for the quantized quadratic performance control problem is found by solving the so‐called guaranteed cost control problem of the associated system with a sector bounded uncertainty. We show that the latter problem can be solved using LMIs. Copyright © 2014 John Wiley & Sons, Ltd.
High‐impedance fault location using matching technique and wavelet transform for underground cable distribution network
Authors: Ali Mohd Syukri , Abu Bakar Ab Halim , Mokhlis Hazlie , Arof Hamzah , Azil Illias Hazlee 
Published: January 2014

AbstractLocating the faulty section of a high‐impedance fault (HIF) is quite challenging for the underground distribution network of a power system. The complexity of the distribution network, such as branches, nonhomogenous lines, and HIF, contributes to the difficulties in locating the faulty section. In this paper, the shortest distance (SD) technique and a database approach have been proposed to determine the faulty section. A multiresolution analysis based on discrete wavelet transforms is chosen to extract the unique features from voltage signals during the HIF event. The output coefficients from the decomposition process is stored in a database and used as the input data for the SD algorithm. The first, second, and third level of detailed coefficients of the post‐disturbance voltage signal were utilized for the identification of the faulty section using the proposed method. A ranking analysis was created to provide a number of possibilities of faulty section. In this paper, a 38‐node underground distribution network system in a national grid in Malaysia was modeled using the PSCAD software. The proposed method was able to successfully determine the faulty section. © 2013 Institute of Electrical Engineers of Japan. Published by John Wiley & Sons, Inc.
Numerical calculations of two-dimensional large Prandtl number convection in a box
Authors: Whitehead J. A. , Cotel A. , Hart S. , Lithgow-Bertelloni C. , Newsome W. 
Published: January 2014

AbstractConvection from an isolated heat source in a chamber has been previously studied numerically, experimentally and analytically. These have not covered long time spans for wide ranges of Rayleigh number Ra and Prandtl number Pr. Numerical calculations of constant viscosity convection partially fill the gap in the ranges $\mathit{Ra}= 1{0}^{3} {{\unicode{x2013}}}1{0}^{6} $ and $\mathit{Pr}= 1, 10, 100, 1000$ and $\infty $. Calculations begin with cold fluid everywhere and localized hot temperature at the centre of the bottom of a square two-dimensional chamber. For $\mathit{Ra}\gt 20\hspace{0.167em} 000$, temperature increases above the hot bottom and forms a rising plume head. The head has small internal recirculation and minor outward conduction of heat during ascent. The head approaches the top, flattens, splits and the two remnants are swept to the sidewalls and diffused away. The maximum velocity and the top centre heat flux climb to maxima during head ascent and then adjust toward constant values. Two steady cells are separated by a vertical thermal conduit. This sequence is followed for every value of $Pr$ number, although lower Pr convection lags in time. For $\mathit{Ra}\lt 20\hspace{0.167em} 000$ there is no plume head, and no streamfunction and heat flux maxima with time. For sufficiently large Ra and all values of Pr, an oscillation develops at roughly $t= 0. 2$, with the two cells alternately strengthening and weakening. This changes to a steady flow with two unequal cells that at roughly $t= 0. 5$ develops a second oscillation.
Video-assisted thoracoscopic surgery for large Zenker's diverticulum: report of two cases
Authors: Hay A , Ozdemir B A , Soon Y , Pitkin L 
Published: January 2014

AbstractIntroduction:Zenker's diverticulum is a propulsion diverticulum in the pharynx. Current practice for the management of symptomatic pharyngeal pouches includes endoscopic pharyngeal stapling, performed trans-orally, and external approaches via a cervical incision. There is no published recommendation on how to approach diverticula with extension into the mediastinum, which may not be adequately treated with the above methods.Cases:We describe two cases in which thoracoscopic mobilisation of Zenker's diverticulum was performed using video-assisted thoracoscopic surgery together with traditional transcervical mobilisation and excision of the pouch. This allowed safe surgical access to the inferior limit of the pouch, and delivery of the sac into the neck incision following division of any inferior adhesions (to the great vessels in one case).Discussion:In the first report of this technique, we describe a thorough, safe method of dissecting large diverticula that extend into the mediastinum, which minimises the risk to mediastinal structures.
Human and wildlife usage of a protected area buffer zone in an area of high immigration
Authors: Bamford Andrew J. , Ferrol-Schulte Daniella , Wathan Jennifer 
Published: January 2014

AbstractPopulation growth near protected areas threatens the capacity of such areas for biodiversity conservation. Protected areas may even encourage growth by providing economic benefits that attract migrants. Consequently, understanding the relationships between human demographics and biodiversity is important for conservation. We studied a community-governed Wildlife Management Area bordering the Selous Game Reserve in Tanzania, set up to benefit local people and the subsistence rural economy. Annual population growth in this area is 5%. We used a combination of ecological and socio-economic surveys to determine the causes of this growth and its effect on wildlife in the Wildlife Management Area. One-third of local people interviewed were immigrants to the area. Population growth appeared to be unrelated to the protected area; instead an increasing proportion of immigrants cited readily available land as their reason for moving. Pastoralism was associated with fewer signs of large grazing mammals and elephants Loxodonta africana and agriculture was associated with fewer signs of elephant and buffalo Syncerus caffer but more signs of other ungulates. Few residents were aware of the Wildlife Management Area and few received any benefits from wildlife and therefore had little reason to conserve it. This situation is attributable to poor management of the Wildlife Management Area. Detrimental effects of human activity could spread to the Selous Game Reserve if population growth continues. However, natural resources could benefit residents if properly managed. Interactions between human demographics and protected areas are complex and may be best managed on a case-by-case basis.
Initial studies on mechanism of action and cell death of activeN-oxide-containing heterocycles inTrypanosoma cruziepimastigotesin vitro
Authors: BENÍTEZ DIEGO , CASANOVA GABRIELA , CABRERA GONZALO , GALANTI NORBEL , CERECETTO HUGO , GONZÁLEZ MERCEDES 
Published: January 2014

SUMMARYChagas disease, endemic in 21 countries across Latin America, kills more people in the region each year than any other parasite-borne disease. Therapeutic options have problems ranging from toxicity, poor efficacy, drug resistance and high cost. Thus, cheaper and less toxic treatments are necessary. From our in-house chemical library of agents againstTrypanosoma cruzithe most relevantN-oxide-containing heterocycles were selected for mode of action and type of death studies. Also included in these studies were two active nitrofuranes. Epimastigotes ofT. cruziwere used as the biological model in this study. The metabolic profile was studied by1H NMR in association with the MTT assay. Excreted catabolites data, using1H NMR spectroscopy, showed that most of the studiedN-oxides were capable of decreasing both the release of succinate and acetate shedding, the compounds therefore possibly acting on mitochondria. Only quinoxalines and the nitrofuraneNf1showed significant mitochondrial dehydrogenase inhibitions, but with different dose–time profiles. In the particular case of quinoxalineQx2the glucose uptake study revealed that the integrity of some pathways into the glycosome could be affected. Optic, fluorescence (TUNEL and propidium iodide) and transmission electron microscopy (TEM) were employed for type of death studies. These studies were complemented with1H NMR to visualize mobile lipids. At low concentrations none of the selected compounds showed a positive TUNEL assay. However, both quinoxalines, one furoxan and one benzofuroxan showed a necrotic effect at high concentrations. Curiously, one furoxan,Fx1, one benzofuroxan,Bfx1, and one nitrofurane,Nf1, caused a particular phenotype, with a big cytoplasmatic vacuole being observed while the parasite was still alive. Studies of TEM and employing a protease inhibitor (3-methyladenine) suggested an autophagic phenotype forBfx1andNf1and a ‘BigEye’ phenotype forFx1.
Behavioral and emotional dysregulation trajectories marked by prefrontal–amygdala function in symptomatic youth
Authors: Bertocci M. A. , Bebko G. , Olino T. , Fournier J. , Hinze A. K. , Bonar L. , Almeida J. R. C. , Perlman S. B. , Versace A. , Travis M. , Gill M. K. , Demeter C. , Diwadkar V. A. , White R. , Schirda C. , Sunshine J. L. , Arnold L. E. , Holland S. K. , Kowatch R. A. , Birmaher B. , Axelson D. , Youngstrom E. A. , Findling R. L. , Horwitz S. M. , Fristad M. A. , Phillips M. L. 
Published: January 2014

BackgroundNeuroimaging measures of behavioral and emotional dysregulation can yield biomarkers denoting developmental trajectories of psychiatric pathology in youth. We aimed to identify functional abnormalities in emotion regulation (ER) neural circuitry associated with different behavioral and emotional dysregulation trajectories using latent class growth analysis (LCGA) and neuroimaging.MethodA total of 61 youth (9–17 years) from the Longitudinal Assessment of Manic Symptoms study, and 24 healthy control youth, completed an emotional face n-back ER task during scanning. LCGA was performed on 12 biannual reports completed over 5 years of the Parent General Behavior Inventory 10-Item Mania Scale (PGBI-10M), a parental report of the child's difficulty regulating positive mood and energy.ResultsThere were two latent classes of PGBI-10M trajectories: high and decreasing (HighD; n = 22) and low and decreasing (LowD; n = 39) course of behavioral and emotional dysregulation over the 12 time points. Task performance was >89% in all youth, but more accurate in healthy controls and LowD versus HighD (p < 0.001). During ER, LowD had greater activity than HighD and healthy controls in the dorsolateral prefrontal cortex, a key ER region, and greater functional connectivity than HighD between the amygdala and ventrolateral prefrontal cortex (p's < 0.001, corrected).ConclusionsPatterns of function in lateral prefrontal cortical–amygdala circuitry in youth denote the severity of the developmental trajectory of behavioral and emotional dysregulation over time, and may be biological targets to guide differential treatment and novel treatment development for different levels of behavioral and emotional dysregulation in youth.
Sources of individual differences in the acquisition of tense inflection by English second language learners with and without specific language impairment
Authors: BLOM ELMA , PARADIS JOHANNE 
Published: January 2014

ABSTRACTThe goal of this study was to investigate whether individual difference factors influence the second language (L2) learning of children with specific language impairment (SLI) and children with typical development (TD) differently. The study focuses on tense inflection development in English L2 children. The roles of age of L2 acquisition, length of L2 exposure, and first language (L1) were examined. Twenty-four pairs of 4- and 5-year-old English L2 children with SLI and English L2 children with TD participated in the study. Children's responses on the third person singular and regular past tense probes of the Test of Early Grammatical Impairment (Rice & Wexler, 2001) were analyzed using logistic mixed regression modeling and classification procedures. For all children, those who started learning English later performed better than children who started learning English earlier, but the advantage of an older age of acquisition was particularly present in the L2 with SLI group. For children in the L2 group with TD, their accuracy with tense inflection clearly increased with longer L2 exposure, but this was not found for the L2 children with SLI. Finally, L2 children with TD were better able to transfer L1 knowledge than L2 children with SLI.
Alternative modes in dispersal strategies, with an emphasis on herbaceous plants of the Middle East
Authors: Plitmann Uzi 
Published: January 2014

SynopsisHypotheses concerning diaspore behaviour are presented. It is suggested that in many plants, dispersal strategy involves alternative agents (2 or more vectors) and combination of distances. The hypotheses are substantiated by data compiled from observations of dispersal modes and mechanisms in herbaceous plant species of the Middle East. Two special modes, heterocarpy and amphicarpy, represent complex strategies with different propagules on the same individual. Amphicarpy resembles cryptophytic life-form in many respects. In several other cases the same propagule can be dispersed for various distances by a single vector or through alternative modes. Combination of long-range, short-range, andin situdispersal is described for many species; Compositae of Turkey serve as a study case of the possible abundance of this strategy.Several combinations of different vectors that can distribute the same diaspores, alternately or successively, are recorded. It seems that the combination of wind and temporary water currents is quite common in our region. Cruciferae of Israel serve as a study case of the possible abundance of this strategy and its various combinations. It is concluded that dispersal strategies with alternate modes are typical of many herbaceous species and probably adopted by most angiosperms. The one-to-one conservative relationships between adaptation and mode, mechanism and agent, are rather misleading. An adaptation or a syndrome should not be rigidly defined as they may function in more than one way. Often, the alternate mode can be more effective than the mode attributed to that particular syndrome. By such strategy a plant can better guarantee its distribution in space.
Native or introduced? Problems in the taxonomy and plant geography of some widely introduced annual brome-grasses
Authors: Smith P. M. 
Published: January 2014

SynopsisWeedy nature and critical taxonomic status of widespread autogamous annual brome-grasses combine to make assessments of their native phytogeographical areas uncertain or impossible. Suggested criteria for determining native status are reviewed. Some species found in SW Asia occur also in Europe. Some others are so far known only in Europe and may either be native there or introduced from SW Asia. These possibilities are considered by applying native status criteria to 10 principal exemplar species and 4 subspecies. On the basis of known distributions, these criteria suggest that: (i) some species are not native inanyprimary habitats, and perhaps never have been; (ii) though SW Asia seems to be the centre from which the current adaptive radiation ofBromusL. annuals began, not all its brome-grass flora is native, and some of its probable native species are known only as introduced plants in Europe i.e. are undiscovered in SW Asia. It is urged that our imperfect knowledge of distributions in this critical group be remedied by careful analysis of the brome-grass flora of primary habitats in SW Asia.
A concept for routine emergency-care data-based syndromic surveillance in Europe
Authors: ZIEMANN A. , ROSENKÖTTER N. , GARCIA-CASTRILLO RIESGO L. , SCHRELL S. , KAUHL B. , VERGEINER G. , FISCHER M. , LIPPERT F. K. , KRÄMER A. , BRAND H. , KRAFFT T. 
Published: January 2014

SUMMARYWe developed a syndromic surveillance (SyS) concept using emergency dispatch, ambulance and emergency-department data from different European countries. Based on an inventory of sub-national emergency data availability in 12 countries, we propose framework definitions for specific syndromes and a SyS system design. We tested the concept by retrospectively applying cumulative sum and spatio-temporal cluster analyses for the detection of local gastrointestinal outbreaks in four countries and comparing the results with notifiable disease reporting. Routine emergency data was available daily and electronically in 11 regions, following a common structure. We identified two gastrointestinal outbreaks in two countries; one was confirmed as a norovirus outbreak. We detected 1/147 notified outbreaks. Emergency-care data-based SyS can supplement local surveillance with near real-time information on gastrointestinal patients, especially in special circumstances, e.g. foreign tourists. It most likely cannot detect the majority of local gastrointestinal outbreaks with few, mild or dispersed cases.
Protective Factors for Adolescent Violence against Authority
Authors: Ibabe Izaskun , Jaureguizar Joana , Bentler Peter M. 
Published: January 2014

AbstractBoth the family and school environments influence adolescents’ violence, but there is little research focusing simultaneously on the two contexts. This study analyzed the role of positive family and classroom environments as protective factors for adolescents’ violence against authority (parent abuse and teacher abuse) and the relations between antisocial behavior and child-to-parent violence or student-to-teacher violence. The sample comprised 687 Spanish students aged 12-16 years, who responded to the Family Environment Scale (FES) and the Classroom Environment Scale (CES). Structural Equation Modeling was used to test our model of violent behavior towards authority based on Catalano and Hawkins’ Social Developmental Model (1996). Perceived family cohesion and organization showed an inverse association with parent abuse, suggesting that a positive family environment was a protective factor for the development of violence against parents. Family and classroom environments had direct effects on adolescents’ violence against authority, and antisocial behavior showed a mediating effect in this relationship. The model accounted for 81% of the variance in violence against authority. As family environment was a better predictor of violence against authority than school environment, intervention efforts to reduce rates of adolescent violence should focus on helping parents to increase family cohesion and to manage conflictive relationships with their children.
Relativistic Hydrodynamics of Selfgravitating Fluids
Authors: Rezzolla Luciano , Zanotti Olindo 
Published: January 2014

AbstractThe last chapter of the book deals with physical systems whose conditions require the solution both of the Einstein equations and of the hydrodynamics equations. The first examples considered are those of stationary isolated stars, including gravastars and rotating stars, followed by the analysis of compact stars collapsing to a black hole, which are treated both through the dust solution of Oppenheimer–Snyder and through fluid solutions. Since the nonlinearity and complexity of the equations that need to be solved make it increasingly difficult to obtain analytic solutions, the role of numerical simulations becomes increasingly important. Numerical simulations are indeed crucial for the investigation of complex systems such as neutron-star binaries and black-hole–neutron-star binaries, which are treated with an eye on their possible detection through the emission of gravitational waves.