bluuebunny/crossref_metadata_2025 huggingface dataset:
Low-Temperature Behaviour of Social and Economic Networks
Authors: Garlaschelli Diego , Ahnert Sebastian , Fink Thomas , Caldarelli Guido
Published: August 2013

Real-world social and economic networks typically display a number of particular topological properties, such as a giant connected component, a broad degree distribution, the small-world property and the presence of communities of densely interconnected nodes. Several models, including ensembles of networks, also known in social science as Exponential Random Graphs, have been proposed with the aim of reproducing each of these properties in isolation. Here, we define a generalized ensemble of graphs by introducing the concept of graph temperature, controlling the degree of topological optimization of a network. We consider the temperature-dependent version of both existing and novel models and show that all the aforementioned topological properties can be simultaneously understood as the natural outcomes of an optimized, low-temperature topology. We also show that seemingly different graph models, as well as techniques used to extract information from real networks are all found to be particular low-temperature cases of the same generalized formalism. One such technique allows us to extend our approach to real weighted networks. Our results suggest that a low graph temperature might be a ubiquitous property of real socio-economic networks, placing conditions on the diffusion of information across these systems.
Cross-Network Information Dissemination in Vehicular Ad hoc Networks (VANETs): Experimental Results from a Smartphone-Based Testbed
Authors: Busanelli Stefano , Rebecchi Filippo , Picone Marco , Iotti Nicola , Ferrari Gianluigi
Published: August 2013

In this work, we present an innovative approach for effective cross-network information dissemination, with applications to vehicular ad hoc networks (VANETs). The proposed approach, denoted as "Cross-Network Effective Traffic Alert Dissemination" (X-NETAD), leverages on the spontaneous formation of local WiFi (IEEE 802.11b) VANETs, with direct connections between neighboring vehicles, in order to disseminate, very quickly and inexpensively, traffic alerts received from the cellular network. The proposed communication architecture has been implemented on Android smartphones. The obtained experimental results show that an effective cross-network information dissemination service can entirely rely on smartphone-based communications. This paves the way to future Internet architectures, where vehicles will play a key role as information destinations and sources.
Contributions of Microdialysis to New Alternative Therapeutics for Hepatic Encephalopathy
Authors: Rivera-Espinosa Liliana , Floriano-Sánchez Esaú , Pedraza-Chaverrí José , Coballase-Urrutia Elvia , Sampieri Aristides , Ortega-Cuellar Daniel , Cárdenas-Rodríguez Noemí , Carmona-Aparicio Liliana
Published: August 2013

Hepatic encephalopathy (HE) is a common complication of cirrhosis, of largely reversible impairment of brain function occurring in patients with acute or chronic liver failure or when the liver is bypassed by portosystemic shunts. The mechanisms causing this brain dysfunction are still largely unclear. The need to avoid complications caused by late diagnosis has attracted interest to understand the mechanisms underlying neuronal damage in order to find markers that will allow timely diagnosis and to propose new therapeutic alternatives to improve the care of patients. One of the experimental approaches to study HE is microdialysis; this technique allows evaluation of different chemical substances in several organs through the recollection of samples in specific places by semi-permeable membranes. In this review we will discuss the contributions of microdialysis in the understanding of the physiological alterations in human hepatic encephalopathy and experimental models and the studies to find novel alternative therapies for this disease.
Reactive Oxygen Species Mediate Isoalantolactone-Induced Apoptosis in Human Prostate Cancer Cells
Authors: Rasul Azhar , Di Jun , Millimouno Faya , Malhi Mahadev , Tsuji Ichiro , Ali Muhammad , Li Jiang , Li Xiaomeng
Published: August 2013

Isoalantolactone, a medicinal plant-derived natural compound, is known to induce apoptosis in various cancer cell lines. However, its effect on apoptosis in prostate cancer cells has not been addressed. Thus, we examined the effects of isoalantolactone on prostate cancer cells. It was found that isoalantolactone inhibits growth of both androgen-sensitive (LNCaP) as well as androgen-independent (PC3 and DU-145) prostate cancer cells in a dose-dependent manner. Furthermore, our results indicate that isoalantolactone-induced apoptosis in prostate cancer PC3 cells is associated with the generation of ROS and dissipation of mitochondrial membrane potential (Δψm). In addition, isoalantolactone triggers apoptosis in prostate cancer cells via up-regulation of Bax, down-regulation of Bcl-2, survivin, and significant activation of caspase-3. Isoalantolactone-induced apoptosis is markedly abrogated when the cells were pretreated with N-acetylcysteine (NAC), a specific ROS inhibitor, suggesting that the apoptosis-inducing effect of isoalantolactone in prostate cancer cells is mediated by reactive oxygen species. These findings indicate that isoalantolactone induces reactive oxygen species-dependent apoptosis in prostate cancer cells via a novel mechanism involving inhibition of survivin and provide the rationale for further in vivo and preclinical investigation of isoalantolactone against human prostate cancer.
Optimal Reinsurance: A Risk Sharing Approach
Authors: Balbas Alejandro , Balbas Beatriz , Balbas Raquel
Published: August 2013

This paper proposes risk sharing strategies, which allow insurers to cooperate and diversify non-systemic risk. We deal with both deviation measures and coherent risk measures and provide general mathematical methods applying to optimize them all. Numerical examples are given in order to illustrate how efficiently the non-systemic risk can be diversified and how effective the presented mathematical tools may be. It is also illustrated how the existence of huge disasters may lead to wrong solutions of our optimal risk sharing problem, in the sense that the involved risk measure could ignore the existence of a non-null probability of "global ruin" after the design of the optimal risk sharing strategy. To overcome this caveat, one can use more conservative risk measures. The stability in the large of the optimal sharing plan guarantees that "the global ruin caveat" may be also addressed and solved with the presented methods.
Sudden Event Recognition: A Survey
Authors: Suriani Nor , Hussain Aini , Zulkifley Mohd
Published: August 2013

Event recognition is one of the most active research areas in video surveillance fields. Advancement in event recognition systems mainly aims to provide convenience, safety and an efficient lifestyle for humanity. A precise, accurate and robust approach is necessary to enable event recognition systems to respond to sudden changes in various uncontrolled environments, such as the case of an emergency, physical threat and a fire or bomb alert. The performance of sudden event recognition systems depends heavily on the accuracy of low level processing, like detection, recognition, tracking and machine learning algorithms. This survey aims to detect and characterize a sudden event, which is a subset of an abnormal event in several video surveillance applications. This paper discusses the following in detail: (1) the importance of a sudden event over a general anomalous event; (2) frameworks used in sudden event recognition; (3) the requirements and comparative studies of a sudden event recognition system and (4) various decision-making approaches for sudden event recognition. The advantages and drawbacks of using 3D images from multiple cameras for real-time application are also discussed. The paper concludes with suggestions for future research directions in sudden event recognition.
User Satisfaction as the Foundation of the Success Following an ERP Adoption
Authors: Maldonado Miguel , Sierra Vicenta
Published: August 2013

Enterprise Resource Planning (ERP) adoptions keep consolidating as a critical IT initiative in developing regions. Although Latin America has exhibited lately the largest growth in terms of ERP adoption rate worldwide, there is a gap in the literature focused in examining the success and underlying causes of such adoptions there. This study develops and tests a theoretical model proposing factors that determine the success of ERP Latin American adoptions. A qualitative exploration proposes a model which is corroborated empirically with data from 49 firms using Structural Equations Modeling. The results suggest that User Satisfaction is the foundation for the success and its key role as a mediator between ERP Ease of Use capacities, Formal Communication Program, Project Implementation Success and the Success of the Adoption is also introduced. These results are compared with existing studies and the implications of the findings for research and practice are discussed.
Improving Undergraduates’ Experience of Online Learning and Involvement
Authors: Shen Pei-Di , Tsai Chia-Wen
Published: August 2013

As educators and teachers pay more attention to the applications of educational technologies and websites to help students achieve satisfactory learning outcomes, it is necessary to develop effective teaching methods integrated with technologies for both teachers and students. This study involved 96 undergraduates from two class sections in an experiment wherein the first class received the interventions of web-mediated Self-regulated Learning (SRL) and Collaborative Learning (CL) (Case 1), while the second one served as the control group (Case 2). The results of this study show that Case 1 students had a better experience of course learning and more positive attitudes toward the interventions of web-mediated SRL and CL than those in Case 2. In addition, Case 1 students’ involvement in learning in the web-mediated learning environments (5.0002) was also higher than those in Case 2 (4.7813), though insignificantly. Implications for teachers and schools are also provided in this paper.
Issues in urban land and property markets in developing and transitional countries - Some experiences in Sri Lanka
Authors: Ariyawansa RG
Published: August 2013

DOI: http://dx.doi.org/10.4038/besl.v7i1.1945Built-Environment Sri Lanka Vol.7(1) 2007 1-2
Factors Affecting Condominium Development in Sri Lanka
Authors: Senaratne Sepani , Zainudeen Nisa , Weddikkara Chitra
Published: August 2013

The contribution of private developers in condominium development in Sri Lanka has increased due to higher demand and increased profit. Condominium development takes place with the intention of disposing apartments in the future. The developer has to make several decisions in advance regarding the future. The degree of uncertainty inherent in future decisions can be mitigated by gathering as much reliable information regarding the variables in the decision environment. The aim of the study was to grasp a sound knowledge about the condominium profile in Sri Lanka with reference to many factors that help property developers' decision whether or not to invest in a Condominium project The study has analysed the composition, density, selling prices, occupancy rates and general factors affecting the demand and supply of condominiums in Sri Lanka. DOI: http://dx.doi.org/10.4038/besl.v7i1.1948 Built-Environment Sri Lanka Vol.7(1) 2007 23-28
Associations between perceived stress, quality of life and complementary health practices in Japanese outpatients: a multicenter observational study
Authors: Kimura Tomoaki , Matsuo Hiroshi , Iida Naoharu , Maki Yoshiteru , Suzuki Kiyoshi
Published: August 2013

In Japan and other countries, complementary health practices based on lifestyle modification such as exercise, diet, art and culture, gardening, and biofield therapy, have received increasing attention. This study was conducted to demonstrate associations between perceived stress, quality of life (QOL), and these complementary health practices. Computer-assisted data collection was conducted with Japanese outpatients in 10 clinics. Participants completed questionnaires that measured socioeconomic status (SES) and frequencies of complementary health practices. Psychological stress was measured using the 10-Item Japanese version of the Perceived Stress Scale. QOL was measured using the 10-Item Mokichi Okada Association Quality of Life Questionnaire. Data were analyzed using linear regression modeling. Baseline data of 1480 participants were available for cross-sectional analysis and data of 318 participants were available at follow-up for longitudinal analysis. Gender differences were not observed in stress and QOL, but age was positively correlated with QOL, and negatively with stress. A multiple regression model adjusted for age, gender, and SES indicated weak associations between each health practice and QOL in the cross-sectional (β=0.14-0.28) and the longitudinal analysis (β=0.17-0.27). Moreover, negative associations between each health practice and stress varied from -0.08 to -0.18, with the exception of biofield therapy in the cross-sectional analysis. In the longitudinal analysis, associations varied from -0.13 to -0.27, but diet and biofield therapy were not significantly associated with stress. These results suggest that complementary health practices had a significant effect on maintaining, or improving QOL, as well as in reducing stress of Japanese outpatients.
Changes in Strength, Endurance, and Fatigue During a Resistance-Training Program for the Triceps Brachii Muscle
Authors: Gacesa Jelena Z. Popadic , Klasnja Aleksandar V. , Grujic Nikola G.
Published: August 2013

Context:

As a result of the adaptation process, some functional properties show different functions over time during strength training. Muscle strength and fatigue may show different adaptation patterns in reaching the improvement plateau after several weeks of training.

Objective:

To follow muscle endurance and fatigue values during resistance training of the elbow extensors in young nonathletes.

Design:

Descriptive laboratory study.

Setting:

Controlled laboratory.

Patients or Other Participants:

Nineteen healthy young nonathletes (age = 21.0 ± 1.1 years; body mass index = 25.2 ± 2.9 kg/m2).

Intervention(s):

Triceps brachii resistance training was performed on the isoacceleration dynamometer for 10 weeks (frequency = 5 times a week, 5 sets of 10 maximal elbow extensions, 1-minute resting period between sets).

Main Outcome Measure(s):

Measurements of endurance strength and fatigability were conducted using the same equipment, and endurance strength (ES), fatigue rate (FR), and decrease in strength (DS) were defined.

Results:

All measured values for triceps brachii strength changed after training (ES increased by 57%, FR decreased by 68%, and DS improved by 59%; P < .001). No correlation was found between ES and the fatigability values—FR and DS (r2 = 0.37 for FR and r2 = 0.04 for DS; P > .05). The FR and DS trends showed specific functions, which reached a plateau after 4 weeks of training, and we found no further weekly changes in these values as the training continued. As an adaptation to exercise, ES showed a continuous, yet not linear, increase.

Conclusions:

Fatigability in the triceps brachii decreased in the first 4 weeks of training. After that period, muscle functional properties improved as a result of increased endurance.
The automorphism group of Thompson’s group $F$: subgroups and metric properties
Authors: Burillo José , Cleary Sean
Published: August 2013

We describe some of the geometric properties of the automorphism group

\operatorname {Aut}(F)

of Thompson’s group

F

. We give realizations of

\operatorname {Aut}(F)

geometrically via periodic tree pair diagrams, which lead to natural presentations and give effective methods for estimating the word length of elements. We study some natural subgroups of

\operatorname {Aut}(F)

and their metric properties. In particular, we show that the subgroup of inner automorphisms of

F

is at least quadratically distorted in

\operatorname {Aut}(F)

, whereas other subgroups of

\operatorname {Aut}(F)

isomorphic to

F

are undistorted.
Bounds on the Walsh model for $M^{q,*}$ Carleson and related operators
Authors: Oberlin Richard
Published: August 2013

We prove an extension of the Walsh-analog of the Carleson–Hunt theorem, where the

L^\infty

norm defining the Carleson maximal operator has been replaced by an

L^q

maximal-multiplier-norm. Additionally, we consider certain associated variation-norm estimates.
Quasisymmetric Koebe uniformization
Authors: Merenkov Sergei , Wildrick Kevin
Published: August 2013

We study a quasisymmetric version of the classical Koebe uniformization theorem in the context of Ahlfors regular metric surfaces. We provide sufficient conditions for an Ahlfors 2-regular metric space

X

homeomorphic to a domain in the standard 2-sphere

\mathbb{S}^2

to be quasisymmetrically equivalent to a circle domain in

\mathbb{S}^2

. We also give an example showing the sharpness of these conditions.
Climate response due to carbonaceous aerosols and aerosol-induced SST effects in NCAR community atmospheric model CAM3.5
Authors: Hsieh W.-C. , Collins W. D. , Liu Y. , Chiang J. C. H. , Shie C.-L. , Caldeira K. , Cao L.
Published: August 2013

Abstract. This study used the Community Atmospheric Model 3.5 (CAM3.5) to investigate the effects of carbonaceous aerosols on climate. The simulations include control runs with 3 times the mass of carbonaceous aerosols as compared to the model's default carbonaceous aerosol mass, as well as no-carbon runs in which carbonaceous aerosols were removed. The slab ocean model (SOM) and the fixed sea surface temperature (SST) were used to examine effects of ocean boundary conditions. Throughout this study, climate response induced by aerosol forcing was mainly analyzed in the following three terms: (1) aerosol radiative effects under fixed SST, (2) effects of aerosol-induced SST feedbacks, and (3) total effects including effects of aerosol forcing and SST feedbacks. The change of SST induced by aerosols has large impacts on distribution of climate response; the magnitudes in response patterns such as temperature, precipitation, zonal winds, mean meridional circulation, radiative fluxes, and cloud coverage are different between the SOM and fixed SST runs. Moreover, different spatial responses between the SOM and fixed SST runs can also be seen in some local areas. This implies the importance of SST feedbacks on simulated climate response. The aerosol dimming effects cause a cooling predicted at low layers near the surface in most carbonaceous aerosol source regions. The temperature response shows a warming (cooling) predicted in the north (south) high latitudes, suggesting that aerosol forcing can cause climate change in regions far away from its origins. Our simulation results show that direct and semidirect radiative forcing due to carbonaceous aerosols decreases rainfall in the tropics. This implies that carbonaceous aerosols have possibly strong influence on weakening of the tropical circulation. Most changes in precipitation are negatively correlated with changes of radiative fluxes at the top of model. The changes in radiative fluxes at top of model are physically consistent with the response patterns in cloud fields. On global average, low-level cloud coverage increases, and mid- and high-level cloud coverage decreases in response to changes in radiative energy induced by aerosol forcing. An approximated moisture budget equation was analyzed in order to understand physical mechanism of precipitation changes induced by carbonaceous aerosols. Our results show that changes in tropical precipitation are mainly dominated are mainly dominated by the dynamic effect (i.e., vertical moisture transport carried by the perturbed flow).
Decadal-scale responses in middle and upper stratospheric ozone from SAGE II Version 7 data
Authors: Remsberg E. E.
Published: August 2013

Abstract. Stratospheric Aerosol and Gas Experiment (SAGE II) version 7 (v7) ozone profiles are analyzed for their decadal-scale responses and linear trends in the middle and upper stratosphere for the two periods of 1984 to 1998 and 1991 to 2005. Multiple linear regression (MLR) analysis is applied to time series of the v7 ozone number density vs. altitude data for a range of latitudes and altitudes. The MLR models that are fit to the data include a periodic 11 yr term, and it is in-phase with that of the 11-yr, solar uv-flux throughout most of the latitude/altitude domain of the middle and upper stratosphere. Max minus min, solar cycle (SC-like) responses for the SAGE II ozone at those altitudes and for the low to middle latitudes are similar for 1984–1998 and for 1991–2005 and of the order of 5 to 2.5% from 35 to 50 km. This finding is important because the associated linear trend terms are clearly different from the MLR models of those two time spans. The SAGE II results for the upper stratosphere are also compared with those of the Halogen Occultation Experiment (HALOE) in terms of mixing ratio vs. pressure. The shapes of their respective, SC-like response profiles agree well for a time series from late 1992–2005, or after excluding the first 14 months of data following the Pinatubo eruption. Max minus min, SC-like responses from the SAGE II and HALOE time series vary from 2 to 4% and from 0 to 2%, respectively, and their differences in the upper stratosphere can be accounted for using the analyzed, SC-like response of the HALOE temperatures. The linear ozone trends of the upper stratosphere for 1992–2005 vary from about 0 to −4% decade−1 from the Southern to the Northern Hemisphere from SAGE II, while they vary from 0 to −2% decade−1 and are more nearly symmetric about the Equator from HALOE.
Ice nucleation by soil dusts: relative importance of mineral dust and biogenic components
Authors: O'Sullivan D. , Murray B. J. , Malkin T. L. , Whale T. , Umo N. S. , Atkinson J. D. , Price H. C. , Baustian K. J. , Browse J. , Webb M. E.
Published: August 2013

Abstract. Agricultural dust emissions have been estimated to contribute around 20% to the global dust burden. In contrast to dusts from arid source regions, the ice-nucleating abilities of which have been relatively well studied, soil dusts from fertile sources often contain a substantial fraction of organic matter. Using an experimental methodology which is sensitive to a wide range of ice nucleation efficiencies, we have characterised the immersion mode ice-nucleating activities of dusts extracted from fertile soils collected at four locations around England. By controlling droplet sizes, which ranged in volume from 10−12 to 10−6 L, we have been able to determine the ice nucleation behaviour of soil dust particles at temperatures ranging from 267 K (−6 °C) down to the homogeneous limit of freezing at about 237 K (−36 °C). At temperatures above 258 K (−15 °C) we find that the ice-nucleating activity of soil dusts is diminished by heat treatment or digestion with hydrogen peroxide, suggesting that the ice nuclei stem from biogenic components in the soil. However, below 258 K, we find that the ice active site densities tend towards those expected from the mineral components in the soils, suggesting that the inorganic fraction of soil dusts, in particular the K-feldspar fraction, becomes increasingly important in the initiation of the ice phase at lower temperatures. We conclude that although only a relatively minor contributor to the global atmospheric dust burden, the enhanced IN activities of dusts generated from agricultural activities may play an important role in cloud glaciation, particularly at temperatures above 258 K.
Mobile measurements of ship emissions in two harbour areas in Finland
Authors: Pirjola L. , Pajunoja A. , Walden J. , Jalkanen J.-P. , Rönkkö T. , Kousa A. , Koskentalo T.
Published: August 2013

Abstract. Four measurement campaigns by a mobile laboratory van were performed in two different environments; inside the harbour areas in the city center of Helsinki and along the narrow shipping channel near the city of Turku, Finland, during the winter and summer conditions in 2010–2011. The characteristics of gaseous (CO, CO2, SO2, NO, NO2, NOx) and particulate (number and volume size distributions as well as PM2.5) emissions for 11 ships regularly operating on the Baltic Sea were studied to determine the emission parameters. The highest particle concentrations were 1.5 × 106 and 1.6 × 105 cm−3 in Helsinki and Turku, respectively, and the particle number size distributions had two modes. The dominating mode was peaking at 20–30 nm and the accumulation mode at 80–100 nm. The majority of the particle mass was volatile since after heating the sample to 265 °C, the particle volume of the studied ships decreased by around 70%. The emission factors for NOx varied in the range of 25–100 g (kg fuel)−1, for SO2 in the range of 2.5–17.0 g (kg fuel)−1, for particle number in the range of (0.32–2.26) × 1016 particles (kg fuel)−1, and for PM2.5 between 1.0–4.9 g (kg fuel)−1. The ships equipped with SCR had lowest NOx emissions whereas the ships with DWI and HAM had lowest SO2 emissions but highest particulate emissions. For all ships the averaged fuel sulphur contents (FSCs) were less than 1% (by mass) but none of those was below 0.1% which will be the new EU directive from 1 January 2015 in the SOx Emission Control Areas, indicating big challenges for ships operating on the Baltic Sea.
The Imagined Cities of Three Canadian Painters
Authors: Caulfield Jon
Published: August 2013

Abstract The paper argues that city scapes of Toronto painted by John Gillespie in 1844/5, Robert Gagen in 1914 and Christiane Pflug in 1968-71 each illuminate and are illuminated by the urban historical periods in which they were created The paper's conclusion suggests that three frameworks for looking at painters' images of city scape are those of political economy, "sentiment and symbolism", and "discursive" relationship of observer and object.
The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?
Authors: Dikow Nicola , Maas Bianca , Gaspar Harald , Kreiss‐Nachtsheim Martina , Engels Hartmut , Kuechler Alma , Garbes Lutz , Netzer Christian , Neuhann Teresa M. , Koehler Udo , Casteels Kristina , Devriendt Koen , Janssen Johannes W.G. , Jauch Anna , Hinderhofer Katrin , Moog Ute
Published: August 2013

Loss‐of‐function mutations of NSD1 and 5q35 microdeletions encompassing NSD1 are a major cause of Sotos syndrome (Sos), which is characterized by overgrowth, macrocephaly, characteristic facies, and variable intellectual disability (ID). Microduplications of 5q35.2–q35.3 including NSD1 have been reported in only five patients so far and described clinically as a reversed Sos resulting from a hypothetical gene dosage effect of NSD1. Here, we report on nine patients from five families with interstitial duplication 5q35 including NSD1 detected by molecular karyotyping. The clinical features of all 14 individuals are reviewed. Patients with microduplications including NSD1 appear to have a consistent phenotype consisting of short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated. Based on our findings, we discuss the possible etiology and conclude that it is possible, but so far unproven, that a gene dosage effect of NSD1 may be the major cause. © 2013 Wiley Periodicals, Inc.
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome
Authors: Nur Banu Guzel , Bernier Francois P. , Oztekin Osman , Kardelen Fırat , Kalay Salih , Parboosingh Jillian S. , Mihci Ercan
Published: August 2013

The acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs, are a clinically heterogeneous group of disorders. Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe micrognathia and malar hypoplasia) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis. Among these syndromes, Nager syndrome is a rare condition but the most common form of acrofacial dysostosis. Most cases are sporadic, while autosomal dominant and autosomal recessive inheritance patterns have been reported. Recently, heterozygous mutations in the SF3B4 gene on chromosome 1q12–q21 were found to be responsible for a subset of sporadic and autosomal dominant cases. We present a female infant born to consanguineous parents with craniofacial features resembling Nager syndrome and a unilateral preaxial limb malformation. Mutation analysis of coding exons of SF3B4 did not identify any mutations. This couple also had a deceased child who had similar clinical features. We conclude that, the presence of consanguinity and absence of mutation in SF3B4, provides evidence in support of a recessive form of Nager syndrome. © 2013 Wiley Periodicals, Inc.
Adolescents and young adults with down syndrome presenting to a medical clinic with depression: Co‐morbid obstructive sleep apnea
Authors: Capone George T. , Aidikoff Jenna M. , Taylor Kay , Rykiel Natalie
Published: August 2013

Adolescents and young adults with Down syndrome (DS) sometimes experience new‐onset mood disorder and decline in adaptive skills. The clinical phenomenon is poorly characterized and its pathogenesis is not understood. The possible contribution of obstructive sleep apnea syndrome (OSAS) to this phenomenon has not been studied. Subjects were ascertained as a convenience sample through our clinic for persons with DS and medical or mental health concerns between 2004 and 2009. When mood symptoms were present an axis I diagnosis was made using DSM‐IV‐R criteria. Subjects without an axis I diagnosis served as controls. The Reiss scales for children's dual diagnosis and the aberrant behavior checklist (ABC) were completed by caretakers. Twenty‐eight cases meeting criteria for major depressive episode (MDE) and nine controls without psychopathology were referred for overnight polysomnography (PSG). Functional decline was reported in 19 (68%) of cases with MDE, but none of the controls. Twenty‐four (86%) cases had OSAS compared with only 4 (44%) of controls. Moderate–severe OSAS was present in 15 (54%) of cases compared to only 1 (11%) of controls. Intermittent sleep‐associated hypoxia and REM sleep deficits were also more frequent in cases. Across all subjects, prior tonsillectomy was not related to the presence or absence of OSAS. Our findings suggest that OSAS may be a common co‐morbidity in adolescents and younger adults with DS and depression. Recognition of this association maybe critical to understanding the pathogenesis and management of mood‐related disorders, and functional decline in affected individuals. © 2013 Wiley Periodicals, Inc.
MLL2 and KDM6A mutations in patients with Kabuki syndrome
Authors: Miyake Noriko , Koshimizu Eriko , Okamoto Nobuhiko , Mizuno Seiji , Ogata Tsutomu , Nagai Toshiro , Kosho Tomoki , Ohashi Hirofumi , Kato Mitsuhiro , Sasaki Goro , Mabe Hiroyo , Watanabe Yoriko , Yoshino Makoto , Matsuishi Toyojiro , Takanashi Jun‐Ichi , Shotelersuk Vorasuk , Tekin Mustafa , Ochi Nobuhiko , Kubota Masaya , Ito Naoko , Ihara Kenji , Hara Toshiro , Tonoki Hidefumi , Ohta Tohru , Saito Kayoko , Matsuo Mari , Urano Mari , Enokizono Takashi , Sato Astushi , Tanaka Hiroyuki , Ogawa Atsushi , Fujita Takako , Hiraki Yoko , Kitanaka Sachiko , Matsubara Yoichi , Makita Toshio , Taguri Masataka , Nakashima Mitsuko , Tsurusaki Yoshinori , Saitsu Hirotomo , Yoshiura Ko‐Ichiro , Matsumoto Naomichi , Niikawa Norio
Published: August 2013

Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in MLL2 and KDM6A cause Kabuki syndrome. We screened 81 individuals with Kabuki syndrome for mutations in these genes by conventional methods (n = 58) and/or targeted resequencing (n = 45) or whole exome sequencing (n = 5). We identified a mutation in MLL2 or KDM6A in 50 (61.7%) and 5 (6.2%) cases, respectively. Thirty‐five MLL2 mutations and two KDM6A mutations were novel. Non‐protein truncating‐type MLL2 mutations were mainly located around functional domains, while truncating‐type mutations were scattered through the entire coding region. The facial features of patients in the MLL2 truncating‐type mutation group were typical based on those of the 10 originally reported patients with Kabuki syndrome; those of the other groups were less typical. High arched eyebrows, short fifth finger, and hypotonia in infancy were more frequent in the MLL2 mutation group than in the KDM6A mutation group. Short stature and postnatal growth retardation were observed in all individuals with KDM6A mutations, but in only half of the group with MLL2 mutations. © 2013 Wiley Periodicals, Inc.
Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome
Authors: Lee Ryan W.Y. , Conley Sandra K. , Gropman Andrea , Porter Forbes D. , Baker Eva H.
Published: August 2013

Smith–Lemli–Opitz syndrome (SLOS) is a neurodevelopmental disorder caused by inborn errors of cholesterol metabolism resulting from mutations in 7‐dehydrocholesterol reductase (DHCR7). There are only a few studies describing the brain imaging findings in SLOS. This study examines the prevalence of magnetic resonance imaging (MRI) abnormalities in the largest cohort of patients with SLOS to date. Fifty‐five individuals with SLOS (27 M, 28 F) between age 0.17 years and 25.4 years (mean = 6.2, SD = 5.8) received a total of 173 brain MRI scans (mean = 3.1 per subject) on a 1.5T GE scanner between September 1998 and December 2003, or on a 3T Philips scanner between October 2010 and September 2012; all exams were performed at the Clinical Center of the National Institutes of Health. We performed a retrospective review of these imaging studies for both major and minor brain anomalies. Aberrant MRI findings were observed in 53 of 55 (96%) SLOS patients, with abnormalities of the septum pellucidum the most frequent (42/55, 76%) finding. Abnormalities of the corpus callosum were found in 38 of 55 (69%) patients. Other findings included cerebral atrophy, cerebellar atrophy, colpocephaly, white matter lesions, arachnoid cysts, Dandy–Walker variant, and type I Chiari malformation. Significant correlations were observed when comparing MRI findings with sterol levels and somatic malformations. Individuals with SLOS commonly have anomalies involving the midline and para‐midline structures of the brain. Further studies are required to examine the relationship between structural brain abnormalities and neurodevelopmental disability in SLOS. © 2013 Wiley Periodicals, Inc.
Preparation of chitosan‐g‐poly(acrylamide)/montmorillonite superabsorbent polymer composites: Studies on swelling, thermal, and antibacterial properties
Authors: Ferfera‐Harrar Hafida , Aiouaz Nacera , Dairi Nassima , Hadj‐Hamou Assia Siham
Published: August 2013

Superabsorbent composites based on chitosan‐g‐poly(acrylamide) and montorillonite (CTS‐g‐PAAm/MMT) were synthesized through in situ radical polymerization by grafting of crosslinked acrylamide onto chitosan backbone in presence of MMT at different contents. The formation of the grafted network was confirmed by attenuated total reflectance Fourier transform infrared spectroscopy (ATR‐FTIR), thermogravimetric analysis (TGA), and differential scanning calorimetery (DSC). The obtained porous structure was observed by scanning electron microscope (SEM). The presence of clay and its interaction with chitosan‐g‐poly(acrylamide) (CTS‐g‐PAAm) matrix was evidenced by ATR‐FTIR analysis. The morphology was investigated by both X‐ray diffraction (XRD) and SEM analyses. It was suggested the formation of mostly exfoliated structures with more porous structures. Besides, the thermal stability of these composites, observed by TGA analysis, was slightly affected by the clay loading as compared to the matrix. These hydrogel composites were also hydrolyzed to achieve anionic hydrogels with ampholytic properties. Swelling behaviors were examined in doubly distilled water, 0.9 wt % NaCl solution and buffer solutions. The water absorbency of all superabsorbent composites was enhanced by adding clay, where the maximum was reached at 5 wt % of MMT. Their hydrolysis has not only greatly optimized their absorption capacity but also improved their swelling rate and salt‐resistant ability. The hydrolyzed superabsorbent showed better pH‐sensitivity than the unhydrolyzed counterparts. The results of the antibacterial activity of these superabsorbents composites against Staphylococcus aureus (S. aureus) and Escherichia coli (E. coli), assayed by the inhibitory zone tests, have showed moderate inhibition of the bacteria growth. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39747.
Co‐extruded polymeric films for gas separation membranes
Authors: Armstrong Shannon R. , Offord Grant T. , Paul Donald R. , Freeman Benny D. , Hiltner Anne , Baer Eric
Published: August 2013

In recent years, gas separation has become an important step in many production process streams and part of final products. Through the use of melt co‐extrusion and subsequent orientation methods, gas separation membranes were produced entirely without the use of solvents, upon which current methods are highly dependent. Symmetric three layer membranes were produced using poly(ether‐block‐amide) (PEBA) copolymers, which serve as a selective material that exhibits a high CO2 permeability relative to O2. Thin layers of PEBA are supported by a polypropylene (PP) layer that is made porous through the use of two methods: (1) inorganic fillers or (2) crystal phase transformation. Two membrane systems, PEBA/(PP + CaCO3) and PEBA/β‐PP, maintained a high CO2/O2 selectivity while exhibiting reduced permeability. Incorporation of an annealing step either before or after orientation improves the membrane gas flux by 50 to 100%. The improvement in gas flux was a result of either elimination of strain induced crystallinity, which increases the selective layer permeability, or improvement of the PP crystal structure, which may increase pore size in the porous support layer. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39765.
Influence of molecular orientation direction on the in‐plane thermal conductivity of polymer/hexagonal boron nitride composites
Authors: Yoshihara Shusuke , Sakaguchi Masashi , Matsumoto Kazuaki , Tokita Masatoshi , Watanabe Junji
Published: August 2013

The effect of the molecular orientation direction of a polymer matrix on the in‐plane thermal conductivity (TC) of injection‐molded polymer/hexagonal boron nitride (h‐BN) composites is investigated. In this system, the h‐BN platelets align in the in‐plane direction owing to injection shear flow. Three molecular orientations (perpendicular, random, and parallel to the h‐BN plane) are achieved using liquid crystalline polyesters and the in‐plane TCs are compared. Although a parallel orientation of the polymer chains provides the highest TC of the matrix in the injection direction, the TC of the composites is the lowest of the three systems for this orientation. The highest in‐plane TC is found in the perpendicularly oriented system, irrespective of the in‐plane direction. These results reveal that perpendicularly oriented molecular chains serve as effective heat paths between h‐BN platelets that are arranged one above the other, and consequently, a continuous thermal network is created in the in‐plane direction. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39768.
A chemically amplified molecular glass resist with an ionic photoacid generator and a single protection group
Authors: Kasai Tatsuaki , Higashihara Tomoya , Ueda Mitsuru
Published: August 2013

A molecular glass resist with an ionic photoacid generator and a single protection group (MR‐1) has been developed. MR‐1 exhibited good thermal properties, such as a 5% weight loss temperature (Td5%) of 167°C and a glass transition temperature (Tg) of 80°C. MR‐1 showed the good sensitivity of 80 μC/cm2 and high contrast of 4.9 with e‐beam exposure (50 keV). A relatively high resolution of 50 nm and low Line‐Edge‐Roughness of 3.8 nm were obtained by e‐beam exposure (100 keV). © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39769.
Oligonucleotides‐decorated‐poly(N‐vinyl pyrrolidone) nanogels for gene delivery
Authors: Dispenza Clelia , Adamo Giorgia , Sabatino Maria Antonietta , Grimaldi Natascia , Bulone Donatella , Bondì Maria Luisa , Rigogliuso Salvatrice , Ghersi Giulio
Published: August 2013

Pulsed electron‐beam irradiation of a semi‐dilute poly(N‐vinyl pyrrolidone) (PVP) aqueous solution in the presence of acrylic acid has led to a carboxyl functionalized nanogel system. Nanoparticles hydrodynamic size and surface charge density, in water and as a function of pH, were investigated by dynamic light scattering and laser doppler velocimetry, respectively. Nanogels (NGs) were proved not to be cytotoxic at the cellular level. Indeed, they rapidly bypass the cellular membrane to accumulate in specific cell portions of the cytoplasm, in the perinuclear area. The availability of pendant carboxyl groups on the crosslinked PVP NGs core prompted us to attempt their decoration with a single strand oligonucleotide, which holds a terminal amino group. The recognition ability of the attached single helix of its complementary strand was investigated. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci.2014,131, 39774.
Folder versus tag preference in personal information management
Authors: Bergman Ofer , Gradovitch Noa , Bar‐Ilan Judit , Beyth‐Marom Ruth
Published: August 2013

Users’ preferences for folders versus tags was studied in 2 working environments where both options were available to them. In the Gmail study, we informed 75 participants about both folder‐labeling and tag‐labeling, observed their storage behavior after 1 month, and asked them to estimate the proportions of different retrieval options in their behavior. In the Windows 7 study, we informed 23 participants about tags and asked them to tag all their files for 2 weeks, followed by a period of 5 weeks of free choice between the 2 methods. Their storage and retrieval habits were tested prior to the learning session and, after 7 weeks, using special classification recording software and a retrieval‐habits questionnaire. A controlled retrieval task and an in‐depth interview were conducted. Results of both studies show a strong preference for folders over tags for both storage and retrieval. In the minority of cases where tags were used for storage, participants typically used a single tag per information item. Moreover, when multiple classification was used for storage, it was only marginally used for retrieval. The controlled retrieval task showed lower success rates and slower retrieval speeds for tag use. Possible reasons for participants’ preferences are discussed.
Prevalence and trends of selected congenital malformations in New York state, 1983 to 2007
Authors: Kim Keewan , Wang Ying , Kirby Russell S. , Druschel Charlotte M.
Published: August 2013

BACKGROUND

Major birth defects result in high infant mortality and morbidity. It is important to evaluate the burden of birth defects and trends for future intervention and public health improvement. Using the New York State (NYS) Congenital Malformations Registry data, we examined the prevalence and trends of birth defects among children in NYS during 25 years of surveillance.

METHODS

Children who had any of the 21 selected birth defects and were born to NYS residents between 1983 and 2007 were selected. The prevalence of each defect was characterized by demographic and birth factors, and the prevalence ratio was calculated. Live births of NYS residents for the same birth year period were used as the denominators for calculating the prevalence. The prevalence trends of birth defects were analyzed by maternal age and race/ethnicity.

RESULTS

Compared with non‐Hispanic whites, we detected 33%, 21%, and 37% higher prevalence of encephalocele, lower limb deficiencies and omphalocele among non‐Hispanic blacks, respectively, and 22% higher prevalence of gastroschisis among Hispanics. Increasing trends of gastroschisis and Down syndrome among non‐Hispanic blacks and decreasing trends of spina bifida and limb deficiencies were observed in NYS.

CONCLUSION

The findings from this study suggest the existence of racial disparities among children with selected birth defects in NYS. The increasing trends of gastroschisis and Down syndrome observed in NYS are consistent with nationwide trends. Birth Defects Research (Part A) 97:619–627, 2013. © 2013 Wiley Periodicals, Inc.
Folic acid fortification and the birth prevalence of congenital heart defect cases in Alberta, Canada
Authors: Bedard Tanya , Lowry R. Brian , Sibbald Barbara , Harder Joyce R. , Trevenen Cynthia , Horobec Vera , Dyck John D.
Published: August 2013

BACKGROUND

Congenital heart defects (CHDs) are the most common type of congenital anomaly. The precise etiology is unknown and the development of successful primary prevention strategies is challenging. Folic acid may have a protective role; however published results have been inconsistent. This study examines the impact of mandatory folic acid fortification (FAF) on the prevalence of CHDs.

METHODS

CHD cases were ascertained using the Alberta Congenital Anomalies Surveillance System, Pediatric Cardiology Clinics, Pathology, and hospital records. The birth prevalence and odds ratios (OR) of isolated CHD cases (i.e., without noncardiac anomalies) were calculated comparing pre‐FAF (1995–1997) with post‐FAF (1999–2002).

RESULTS

The prevalence of isolated CHD cases remained relatively unchanged when pre‐FAF (9.34, 95% confidence interval [CI] 8.79–9.92) was compared with post‐FAF (9.41, 95% CI, 8.93–9.91). Left ventricular outflow tract obstruction (LVOTO) decreased post‐FAF (OR, 0.76; 95% CI, 0.61–0.94). Coarctation of the aorta contributed to this decline (OR, 0.55; 95% CI, 0.32–0.92). Atrial septal defect (ASD) (OR, 1.42; 95% CI, 1.13–1.80) and ASD with ventricular septal defect (OR, 1.52; 95% CI, 1.10–2.10) increased post‐FAF. The remaining types of CHDs were unchanged.

CONCLUSION

FAF alone does not have an impact on the prevalence of CHDs as a group and the majority of selected types of CHDs in Alberta. The decrease in LVOTO, particularly coarctation of the aorta, may be due to FAF or other environmental factors. The increase in ASD and ASD with ventricular septal defect may reflect an increase in diagnosis and ascertainment. Birth Defects Research (Part A) 97:564‐570, 2013. © 2013 Wiley Periodicals, Inc.