bluuebunny/crossref_metadata_2025 huggingface dataset:
Reassessing flood frequency For the Sussex Ouse, Lewes: the Inclusion of historical Flood Information since AD 1650
Authors: Macdonald N. , Kjeldsen T. R. , Prosdocimi I. , Sangster H.
Published: December 2013

Abstract. The application of historical flood information as a tool for augmenting instrumental flood data is increasingly recognised as a valuable tool; most previous studies have focused on large catchments with historic settlements, this paper applies the approach to the smaller lowland system of the Sussex Ouse in Southeast England. The reassessment of flood risk on the Sussex Ouse is pertinent in light of severe flooding in October 2000 and heightened concerns of a perceived increase in flooding nationally. Systematic flood level readings from 1960 and accounts detailing past flood events within the catchment are compiled back to c.1750. This extended flood record provides an opportunity to reassess estimates of flood frequency over a timescale not normally possible within flood frequency analysis. This paper re-evaluates flood frequency at Lewes on the Sussex Ouse downstream of the confluence of the Sussex Ouse and River Uck. The paper considers the strengths and weaknesses in estimates resulting from contrasting methods of analysis and their corresponding data: (i) single site analysis of gauged annual maxima; (ii) combined analysis of systematic annual maxima augmented with historical peaks of estimated magnitude; (iii) combined analysis of systematic annual maxima augmented with historical peaks of estimated magnitude exceeding a known threshold, and (iv) sensitivity analysis including only the very largest historical flood events. Use of the historical information was found to yield much tighter confidence intervals of risk estimates, with uncertainty reduced by up to 40% for the 100 yr return frequency event when historical information was added to the gauged data.
The Subject of Critique: Ricoeur in Dialogue with Feminist Philosophers
Authors: Halsema Annemie
Published: December 2013

This paper aims to show the relevance of Ricœur’s notion of the self for postmodern feminist theory, but also to critically assess it. By bringing Ricœur’s “self” into dialogue with Braidotti’s, Irigaray’s and Butler’s conceptions of the subject, it shows that it is close to the feminist self in that it is articulated into language, is embodied and not fully conscious of itself. In the course of the argument, the major point of divergence also comes to light, namely, that the former considers discourse to be a laboratory for thought experiments, while the latter consider discourse to be normative, restrictive and exclusive. In the second part, the possibility of critique and change are further developed. Ricœur does not rule out critique, rather interpretation includes distanciation and critique. Finally, his notion of productive imagination explains how new identifications become possible.
The Need for an Alternative Narrative to the History of Ideas or To Pay a Debt to Women: A Feminist Approach to Ricœur's Thought
Authors: Henriques Fernanda
Published: December 2013

This paper explores the thought of Paul Ricœur from a feminist point of view. My goal is to show that it is necessary to narrate differently the history of our culture – in particular, the history of philosophy – in order for wommen to attain a self-representation that is equal to that of men. I seek to show that Ricoeur’s philosophy – especially his approach to the topics of memory and history, on the one hand, and the human capacity for initiative, on the other hand– can support the idea that it is possible and legitimate to tell our history otherwise by envisioning a more accurate truth about ourselves.
A Telephone-based Physiotherapy Intervention for Patients with Osteoarthritis of the Knee
Authors: Odole Adesola C , Ojo Oluwatobi D.
Published: December 2013

This study assessed the effects of a 6-week telephone based intervention on the pain intensity and physical function of patients with knee osteoarthritis (OA), and compared the results to physiotherapy conducted in the clinic. Fifty randomly selected patients with knee OA were assigned to one of two treatment groups: a clinic group (CG) and a tele-physiotherapy group (TG). The CG received thrice-weekly physiotherapist administered osteoarthritis-specific exercises in the clinic for six weeks. The TG received structured telephone calls thrice-weekly at home, to monitor self-administered osteoarthritis-specific exercises. Participants’ pain intensity and physical function were assessed at baseline, two, four, and six weeks, in the clinic environment. Within group comparison showed significant improvements across baseline, and at weeks two, four, and six for both TG and CG’s pain intensity and physical function. Between-group comparison of CG and TG’s pain intensity and physical function at baseline and weeks two, four, and six showed no significant differences. This study demonstrated that a six-week course of structured telephone calls thrice-weekly to patients at their home, to monitor self-administered osteoarthritis-specific exercises for patients with knee OA (i.e., tele-physiotherapy) achieved comparable results to physiotherapy conducted in the clinic.
Measuring Costs and Outcomes of Tele-Intervention When Serving Families of Children who are Deaf/Hard-of-Hearing
Authors: Blaiser Kristina M. , Behl Diane , Callow-Heusser Catherine , White Karl R.
Published: December 2013

Background: Optimal outcomes for children who are deaf/hard-of-hearing (DHH) depend on access to high quality, specialized early intervention services. Tele-intervention – the delivery of early intervention services via telehealth technology - has the potential to meet this need in a cost-effective manner.Method: Twenty-seven families of infants and toddlers with varying degrees of hearing loss participated in a randomized study, receiving their services primarily through TI or via traditional in-person home visits. Pre- and post-test measures of child outcomes, family and provider statisfaction, and costs were collected.Results: The TI group scored statistically significantly higher on the expressive language measure than the in-person group (p =.03). A measure of home visit quality revealed that the TI group scored statistically significantly better on the Parent Engagement subscale of the Home Visit Rating Scales-Adapted & Extended (HOVRS-A+; Roggman, et al., 2012). Cost savings associate with providing services via TI increased as the intensity of service delivery increased. Although most providers and families were positive about TI, there was great variability in their perceptions.Conclusions: Tele-intervention is a promising cost-effective method for delivering high quality early intervention services to families of children who are DHH.
Editors' Note: Volume Overview
Authors: Cason Jana , Cohn Ellen R.
Published: December 2013

This issue of the International Journal of Telerehabilitation (IJT) contains original research evaluating the efficacy of telerehabilitation; a randomized study measuring costs and outcomes of tele-intervention when serving families of children who are deaf/hard-of-hearing; and a telephone-based physiotherapy intervention for patients with osteoarthritis of the knee. A feasibility study on the use of e-supervision to support speech-language pathologist graduate students during student teaching practica outlines benefits, limitations, and implications for future practice. In addition to innovative research, this issue includes announcements from the American Telemedicine Association and the Mid-Atlantic Telehealth Resource Center.
The Problem of Tokenizing Radical Philosophy
Authors: Benson Jennifer ,   Philosophy Documentation Center
Published: December 2013

Teaching radical philosophy is tricky business, especially for junior academics. We are offered lower division introductory courses and service courses in applied philosophy, perhaps as adjunct or single-year contract employment. Our instructional objectives and teaching materials are often defined by others. We may only be able to include one or two readings in radical philosophy. Meanwhile, many students are defensive when our courses introduce criticism of the various forms of injustice generated by the social status quo. Offer students a single radical source in an otherwise conical reading list and one risks having the source dismissed as a tangent, bizarre and non-philosophical. In short, the readings are tokenized: instead of making the course more diverse and honoring the diversity in philosophy, the radical content is dismissed as strange and unimportant. Recognizing the material necessity of adjunct teaching and short contract teaching, and the importance of philosophy that aims at social justice, I offer best practices when one can only teach a few sources in radical philosophy.
Un corps de désordre : la prostituée dans l’Atlantique français
Authors: Tourangeau Catherine
Published: December 2013

En se basant sur le discours des autorités et des observateurs et sur les archives judiciaires, cet article fera la lumière sur les prostituées de l’Atlantique français à la fin du xviie siècle et au début du xviiie siècle, et tentera d’expliquer en quoi l’activité de la prostituée fait d’elle un élément de désordre pour la société française tant dans la métropole qu’en Nouvelle-France. Les thèmes du genre et de la sexualité seront donc étudiés dans une perspective impériale et atlantique, afin de faire ressortir la particularité coloniale, mais surtout de suggérer des pistes pour la recherche.
Les tensions entre la nature et le droit ; vers un droit de la filiation génétiquement déterminé ?
Authors: Savard Anne-Marie
Published: December 2013

À la suite de la réforme du droit de la famille de 1980, l’auteure démontre comment les concepts de sang, de nature et de vérité biologique ont acquis une importance croissante au sein du droit civil de la filiation au Québec, tant en matière de contestation qu’en réclamation de la filiation. En effet, alors qu’en vertu du Code civil du Bas Canada, l’élément biologique ne possédait pas de valeur en soi, celle-ci dépendant de sa reprise par le Juridique, l’article met en relief la manière dont une partie du droit de la filiation s’est peu à peu soumis à la vérité brute de la chair et des gènes. Ainsi, au-delà d’une analyse du discours législatif, jurisprudentiel et doctrinal, c’est la fonction normative du droit face à la réalité des faits que l’auteure interroge.
After the Berger Blanc: A Comparative Approach to the Utilitarian Regulation of Municipal Animal Control
Authors: Lazare Jodi
Published: December 2013

In April 2011, Radio-Canada aired an investigative report exposing the cruel treatment of domestic animals by workers at one of Montreal’s largest animal shelters. A private business, the Berger Blanc held the majority of municipal contracts for animal control services throughout Montreal. Following the widely-watched exposé, the regulation of domestic animal welfare rose to the top of the agenda both at Montreal’s City Hall and Quebec’s National Assembly, as citizens demanded a response to the jarring images of cruelty and neglect. The province responded, adopting a regulation to strengthen the legal protection of dogs and cats under Quebec’s Animal Health Protection Act— a regulation which has been criticized as ineffective and inadequate by animal welfare groups throughout the province. Similarly, Montreal’s City Hall announced steps to launch a municipal animal control service. And yet, progress is slow and many Montreal boroughs continue to renew their contracts with the Berger Blanc. This paper will review the theoretical, political and legal context surrounding the issue of domestic animals, and employ an animal welfarist (utilitarian) approach to examine the three traditional municipal animal control service models, namely the private for-profit model, the private non-profit model and the public model. In doing so, the paper will suggest that despite the municipal government’s stated financial priorities, the only solution to Montreal’s domestic animal situation—one which properly takes the equal interests of domestic animals into account—lies in a publicly-funded, municipally-run animal services department, similar to the model currently employed by the City of Calgary.
Droit, gouvernance d’entreprise et efficience des marchés financiers
Authors: Mignault Patrick
Published: December 2013

Dans un marché financier efficient, la théorie économique classique soutient qu’il appartient d’abord aux investisseurs de sanctionner, par une réduction du prix des titres, les problèmes de gouvernance d’entreprise. Au cours des dernières années, les autorités canadiennes en valeurs mobilières (ci-après «ACVM») ont mis en place différentes mesures pour améliorer la gouvernance d’entreprise au Canada, en s’appuyant sur l’efficience informationnelle des marchés financiers. Le présent texte étudie les principales mesures qui ont été adoptées et explique certaines relations entre ces mesures et la théorie économique. D’abord, il présente certains principes économiques fondamentaux portant sur l’efficience informationnelle des marchés financiers et les effets de cette dernière sur la gouvernance d’entreprise. Ensuite, il analyse des mesures prises par les ACVM en ce qui a trait à la gouvernance d’entreprise. Ces initiatives touchent, d’une part, le renforcement de l’obligation d’information par l’inclusion d’éléments de divulgation sur la structure de gouvernance. D’autre part, elles intègrent une nouvelle réglementation pour améliorer la qualité et la fiabilité de l’information comptable. L’approche réglementaire des ACVM est commentée à la lumière des limites théoriques qui sous-tendent l’hypothèse des marchés financiers efficients. L’étude souligne notamment les limites quant au respect des divulgations en matière de gouvernance et à la rationalité des investisseurs chargés de sanctionner les lacunes au chapitre de la gouvernance d’entreprise.
Enhancing transmittance of fringe-field switching liquid crystal device by controlling perpendicular component of dielectric constant of liquid crystal
Authors: Kang Shin-Woong , Jang In Won , Kim Dae Hyung , Lim Young Jin , Lee Seung Hee
Published: December 2013

In this paper, we briefly report the effect of the magnitude of the perpendicular component (ε⊥) of the dielectric constant of liquid crystals with a positive dielectric anisotropy on the transmittance of a fringe-field switching liquid crystal device. The larger the ε⊥, the more the tilt angle of the liquid crystal director near the edges of electrodes is reduced, thereby increasing the twist angle above the center of electrodes. Consequently, the transmittance of the device is significantly improved by controlling ε⊥ of the liquid crystal.
Etching-limiting process and origin of loading effects in silicon etching with hydrogen chloride gas
Authors: Morioka Naoya , Suda Jun , Kimoto Tsunenobu
Published: December 2013

The etching-limiting step in slow Si etching with HCl/H2 at atmospheric pressure was investigated. The etching was performed at a low etching rate below 10 nm/min in the temperature range of 1000–1100 °C. In the case of bare Si etching, it was confirmed that the etching rate showed little temperature dependence and was proportional to the equilibrium pressure of the etching by-product SiCl2 calculated by thermochemical analysis. In addition, the etching rates of Si(100) and (110) faces were almost the same. These results indicate that SiCl2 diffusion in the gas phase is the rate-limiting step. In the etching of the Si surface with SiO2 mask patterns, a strong loading effect (mask/opening pattern dependence of the etching rate) was observed. The simulation of the diffusion of gas species immediately above the Si surface revealed that the loading effect was attributed to the pattern-dependent diffusion of SiCl2.
Acessibilidade e sustentabilidade: a experiência da hotelaria de Brasília
Authors: Duarte Donária Coelho , Borda Gilson Zehetmeyer
Published: December 2013

O artigo reflete sobre a relação entre Acessibilidade e Sustentabilidade focalizando as Pessoas com Deficiência ou Mobilidade Reduzida (PDMR) - aí incluídas pessoas com algum tipo de deficiência sensorial ou motora, pessoas na denominada "terceira idade", pessoas com obesidade, grávidas, pais com filhos até 5anos de idade e outros. Analisa a perspectiva do turismo no Brasil nos próximos anos, partindo do cenário atual de preparação para a realização de mega eventos esportivos, dentre os quais a Copa do Mundo FIFA 2014 contrapondo-se à crise econômica global. Destaca-se as PDMR como um segmento turístico com grande potencial de crescimento, desde que seja fornecida infraestrutura pública e nos equipamentos turísticos para o seu melhor atendimento. O artigo focaliza as PDMR como turistas, discutindo como está a adaptação do setor hoteleiro de Brasília para o pleno atendimento das necessidades dessas pessoas e trata ainda da inserção econômica e inclusão social das PDMR como colaboradores dessas organizações. Dentre os dados coletados na pesquisa de campo, salienta-se que: dos 29 hotéis pesquisados, 23 afirmam que possuem instalações adaptadas. Destes, 20 adaptaram suas instalações por exigência da lei. A maioria (26 hotéis) aparenta estar preocupada ou já preparada para um potencial aumento de demanda. 21 entrevistados consideram que há uma procura frequente da parte de hóspedes pertencentes à terceira idade. Nas conclusões, são elencadas algumas sugestões visando a melhoria da acessibilidade e sustentabilidade da rede hoteleira de Brasília. Estimula-se ainda o aprofundamento das pesquisas sobre o tema.
Análise do processo de formação da imagem de destinos turísticos de sol e praia: um estudo em Canoa Quebrada/CE
Authors: Chagas Márcio Marreiro das , Marques Júnior Sérgio , Duarte Andressa Cristine Ferreira
Published: December 2013

O estudo buscou analisar o processo de formação da imagem de destinos turísticos de Sol e Praia, a partir do exame causal entre Motivação, Percepção/Avaliação Cognitiva e Afetiva e Fontes de Informações com foco no destino Canoa Quebrada/CE. Para tanto, se empreendeu uma investigação do tipo exploratório-descritiva, com enfoque analítico quantitativo, do tipo Survey. O processo amostral foi probabilístico, sendo a escolha do sujeito aleatória simples. A coleta ocorreu nos principais pontos turísticos do destino Canoa Quebrada/CE, com questionários aplicados aos turistas nacionais brasileiros, atingindo o total de 208 entrevistados. Dentre os principais resultados, conclui-se que formação da imagem ocorre a partir da influência direta das Motivações dos turistas, dos Componentes Afetivos e Cognitivos do destino, sendo excluídas da relação direta as Fontes de Informações.
Synthesis of Triazole‐Nucleoside Phosphoramidites and Their Use in Solid‐Phase Oligonucleotide Synthesis
Authors: Peel Brandon J. , Efthymiou Tim C. , Desaulniers Jean‐Paul
Published: December 2013

Triazole‐backbone oligonucleotides are macromolecules that have one or more triazole units that are acting as a backbone mimic. Triazoles within the backbone have been used within oligonucleotides for a variety of applications. This unit describes the preparation and synthesis of two triazole‐nucleoside phosphoramidites [uracil‐triazole‐uracil (UtU) and cytosine‐triazole‐uracil (CtU)] based on a PNA‐like scaffold, and their incorporation within oligonucleotides. Curr. Protoc. Nucleic Acid Chem. 55:4.57.1‐4.57.38. © 2013 by John Wiley & Sons, Inc.
Characterization of Conformational Dynamics of Bistable RNA by Equilibrium and Non‐Equilibrium NMR
Authors: Fürtig Boris , Reining Anke , Sochor Florian , Oberhauser Eva Marie , Heckel Alexander , Schwalbe Harald
Published: December 2013

Unlike proteins, a given RNA sequence can adopt more than a single conformation. The two (or more) conformations are long‐lived and have similar stabilities, but interconvert only slowly. Such bi‐ or multistability is often linked to the biological functions of the RNA. This unit describes how nuclear magnetic resonance (NMR) spectroscopy can be used to characterize the conformational dynamics of bistable RNAs. Curr. Protoc. Nucleic Acid Chem. 55:11.13.1‐11.13.16. © 2013 by John Wiley & Sons, Inc.
Low‐level mesodermal somatic mutation mosaicism: Late‐onset craniofacial and cervical spinal hyperostoses
Authors: Kubota Yoshitaka , Mitsukawa Nobuyuki , Uchida Michiko , Uchida Yuuki , Akita Shinsuke , Hasegawa Masakazu , Satoh Kaneshige
Published: December 2013

Craniofacial and cervical spinal hyperostoses are rarely seen in the absence of other abnormalities. Only seven patients with isolated cranial hyperostoses have been reported, and only a single patient with both calvarial and cervical vertebral hyperostoses. We report on an adult with late‐onset right‐sided asymmetrical hyperostoses of the cranium, mandible, and cervical vertebrae in the absence of an AKT1 mutation. At presentation, the patient displayed neither generalized overgrowth nor dysregulated adipose tissue. Standard polymerase chain reaction and Sanger sequencing of DNA extracted from formalin‐fixed paraffin‐embedded frontal bone and mandibular angular bone was negative for an AKT1 mutation. Though the patient's clinical manifestations did not fulfill the consensus diagnostic criteria of Proteus syndrome, the mosaic distribution of lesions, the sporadic occurrence, and the patient's progressive course were consistent with a somatic mosaicism similar to that syndrome. Hence, the patient's phenotype may have been caused by a very late mesodermal somatic mutation during embryogenesis. © 2013 Wiley Periodicals, Inc.
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures
Authors: Au P.Y. Billie , Argiropoulos Bob , Parboosingh Jillian S. , Micheil Innes A.
Published: December 2013

A clinically recognizable syndrome associated with 1q41q42 microdeletion has recently been described in the literature (OMIM 612530). Patients with microdeletions in this region of chromosome 1 typically have developmental delay, characteristic dysmorphic features, and a predisposition to seizures. Malformations such as congenital diaphragmatic hernia and cleft lip have also been described. There has been considerable interest in mapping the smallest region of overlap for this syndrome in order to identify the critical pathogenic genes. The smallest region of overlap has recently been refined to a region encompassing four genes. Using array comparative genome hybridization (array CGH), we have identified a female with a 590‐kB deletion within chromosome1q41q42. This patient's deletion further refines the previously defined region of overlap to a single gene, FBXO28. We propose that FBXO28 is a possible candidate causative gene contributing to the intellectual disability and seizure phenotype observed in 1q41q42 microdeletion syndrome. © 2013 Wiley Periodicals, Inc.
Mosaic microdeletion of 17p11.2–p12 and duplication of 17q22–q24 in a girl with Smith–Magenis phenotype and peripheral neuropathy
Authors: Goh Elaine Suk‐Ying , Banwell Brenda , Stavropoulos Dimitri James , Shago Mary , Yoon Grace
Published: December 2013

We report on a girl with a de novo mosaic derivative chromosome 17 involving a 7.4 Mb deletion of chromosome region 17p11.2 to 17p12 and a duplication of a 12.35 Mb region at 17q22 to 17q24. She was ascertained because of developmental delay, peripheral neuropathy, brachydactyly and minor anomalies. The derivative chromosome was present in approximately 12% of lymphocytes based on FISH studies, and was detected by array comparative genomic hybridization. To our knowledge, this is the third case of mosaicism involving deletion of the 17p11.2 region and the lowest level of mosaicism reported in a patient with Smith–Magenis syndrome (SMS). © 2013 Wiley Periodicals, Inc.
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns‐like syndrome? Report on patients from Indian Ocean islands
Authors: Alessandri Jean‐Luc , Cuillier Fabrice , Malan Valerie , Brayer Claire , Grondard Maeva , Jacquemot‐Dekkak Laure , Kieffer‐Traversier Marie , Pierre Florence , Laurain Céline , Samperiz Sylvain , Tiran‐Rajaofera Isabelle , Ramful Duksha
Published: December 2013

We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations (genitourinary or cerebral), abnormal electroencephalograms with impaired neurological examination and lethal outcome. Massive polyhydramnios was noted in the third trimester of pregnancy and neonatal growth was normal or excessive. The combination of the features is consistent with the diagnosis of Fryns syndrome (FS) without congenital diaphragmatic hernia. Besides chromosomal aberrations and microdeletion syndrome, differential diagnoses include conditions overlapping with FS such as Simpson–Golabi–Behmel, and conditions with hypoplasia/absence of the distal phalanges such as DOOR syndrome, Schinzel–Giedion syndrome, and Rudiger syndrome. © 2013 Wiley Periodicals, Inc.
A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation
Authors: Jedraszak Guillaume , Girard Muriel , Mellos Antonio , Djeddi Djamal‐Dine , Chardot Christophe , Vanrenterghem Audrey , Moizard Marie‐Pierre , Gondry Jean , Sevestre Henri , Mathieu‐Dramard Michele , Lacaille Florence , Demeer Benedicte
Published: December 2013

Simpson–Golabi–Behmel syndrome type 1 (SGBS1) ‐OMIM 312870‐ is a rare X‐linked inherited overgrowth syndrome caused by a loss of function mutation in the GPC3 gene. Affected patients present a variable phenotype with pre‐ and post‐natal macrosomia, distinctive facial dysmophism, organomegaly, and multiple congenital anomalies. Intellectual disability is not constant. About 10% of patients have an increased risk of developing embryonic tumors in early childhood. Only one case of biliary disease has been described so far. GPC3 is localized on Xq26. It encodes for glypican 3, a heparan sulfate proteoglycan, which among its different known roles, negatively regulates liver regeneration and hepatocyte proliferation. This report concerns a male with a SGBS1, carrier of a GPC3 pathogenic mutation, and neonatal liver disease, who developed an early biliary cirrhosis. Together with the associated risk of cancer and developmental delay, liver transplantation was discussed and then successfully performed at the age of 19 months. A hypothesis on the role of GPC3 in the patient's liver disease is also proposed. © 2013 Wiley Periodicals, Inc.
Longitudinal assessment of cognition and T2‐hyperintensities in NF1: An 18‐year study
Authors: Payne Jonathan M. , Pickering Tania , Porter Melanie , Oates Emily C. , Walia Navdeep , Prelog Kristina , North Kathryn N.
Published: December 2013

The developmental course of cognitive deficits in individuals with neurofibromatosis type 1 (NF1) is unclear. The objectives of this study were to determine the natural history of cognitive function and MRI T2‐hyperintesities (T2H) from childhood to adulthood and to examine whether the presence of discrete T2H in childhood can predict cognitive performance in adulthood. We present cognitive and structural neuroimaging data from 18 patients with NF1 and five sibling controls assessed prospectively across an 18‐year period. Longitudinal analyses revealed a significant increase in general cognitive function in patients with NF1 over the study period. Improvements were limited to individuals with discrete T2H in childhood. Patients without lesions in childhood exhibited a stable profile. The number of T2H decreased over time, particularly discrete lesions. Lesions located within the cerebral hemispheres and deep white matter were primarily stable, whereas those located in the basal ganglia, thalamus and brainstem tended to resolve. Our results support the hypothesis that resolution of T2H is accompanied by an improvement in general cognitive performance, possibly as a result of increased efficiency within white matter tracts. © 2013 Wiley Periodicals, Inc.
De novo exon 1 missense mutations of SKI and Shprintzen‐Goldberg syndrome: Two new cases and a clinical review
Authors: Au P.Y. Billie , Racher Hilary E. , Graham John M. , Kramer Nancy , Lowry R. Brian , Parboosingh Jillian S. , Innes A. Micheil ,   FORGE Canada Consortium
Published: December 2013

Shprintzen‐Goldberg syndrome (OMIM #182212) is a connective tissue disorder characterized by craniosynostosis, distinctive craniofacial features, skeletal abnormalities, marfanoid body habitus, aortic dilatation, and intellectual disability. Mutations in exon 1 of SKI have recently been identified as being responsible for approximately 90% of reported individuals diagnosed clinically with Shprintzen‐Goldberg syndrome. SKI is a known regulator of TGFβ signaling. Therefore, like Marfan syndrome and Loeys‐Dietz syndrome, Shprintzen‐Goldberg syndrome is likely caused by deregulated TGFβ signals, explaining the considerable phenotypic overlap between these three disorders. We describe two additional patients with exon 1 SKI mutations and review the clinical features and literature of Shprintzen‐Goldberg syndrome. © 2013 Wiley Periodicals, Inc.
Expanding the clinical phenotype of patients with a ZDHHC9 mutation
Authors: Masurel‐Paulet Alice , Kalscheuer Vera M. , Lebrun Nicolas , Hu Hao , Levy Fabienne , Thauvin‐Robinet Christel , Darmency‐Stamboul Véronique , El Chehadeh Salima , Thevenon Julien , Chancenotte Sophie , Ruffier‐Bourdet Marie , Bonnet Marlène , Pinoit Jean‐Michel , Huet Frédéric , Desportes Vincent , Chelly Jamel , Faivre Laurence
Published: December 2013

In 2007, 250 families with X‐linked intellectual disability (XLID) were screened for mutations in genes on the X‐chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. The ID was either isolated or associated with a marfanoid habitus. ZDHHC9 encodes a palmitoyl transferase that catalyzes the posttranslational modification of NRAS and HRAS. Since this first description, no additional patient with a ZDHHC9 mutation has been reported in the literature. Here, we describe a large family in which we identified a novel pathogenic ZDHHC9 nonsense mutation (p.Arg298*) by parallel sequencing of all X‐chromosome exons. The mutation cosegregated with the clinical phenotype in this family. An 18‐year‐old patient and his 40‐year‐old maternal uncle were evaluated. Clinical examination showed normal growth parameters, lingual fasciculation, limited extension of the elbows and metacarpophalangeal joints, and acrocyanosis. There was neither facial dysmorphism nor marfanoid habitus. Brain MRI detected a dysplastic corpus callosum. Neuropsychological testing showed mild intellectual disability. They both displayed generalized anxiety disorder, and the younger patient also suffered from significant behavior impairment that required attention or treatment. Speech evaluation detected satisfactory spoken language since both were able to provide information and to understand conversations of everyday life. Occupational therapy examination showed impaired visual‐spatial and visual‐motor performance with poor drawing/graphic skills. These manifestations are not specific enough to guide ZDHHC9 screening in patients with ID, and emphasize the value of next generation sequencing for making a molecular diagnosis and genetic counseling in families with XLID. © 2013 Wiley Periodicals, Inc.
Hypoxic cardiopulmonary arrest with full recovery after induced hypothermic therapy
Authors: Matsuo Tomoji , Yanagawa Youichi , Takeuchi Yuji , Inoue Teruhiro , Oomori Kazuhiko , Osaka Hiromichi , Hayashi Nobuhiro , Oode Yasumasa , Shimizu Takashi , Sato Nobuyuki , Okamoto Ken
Published: December 2013

Case

The patient's chart was reviewed, summarized, and presented.

Outcome

A 41‐year‐old male collapsed after complaining of dyspnea just before the end of a hemodialysis session. He was just being introduced to hemodialysis. The patient's percutaneous oxygen saturation dropped to 50% even under inhalation of 10 L/minute of oxygen and he developed pulseless electrical activity. After tracheal intubation, a return of spontaneous circulation was noted. His truncal CT disclosed a bilateral diffuse ground glass appearance and pleural effusion were noted. Induced mild hypothermic therapy and mechanical ventilation resulted in the improvement of his respiratory function and consciousness. A coronary angiogram and left ventriculography showed no significant lesion, and his pulmonary edema was considered to have been induced by over‐hydration due to renal failure, diastolic heart failure or dialysis disequilibrium syndrome. He was discharged without any neurological deficit.

Conclusion

Tracheal intubation with ventilation for hypoxic cardiopulmonary arrest and induced hypothermic therapy after obtaining spontaneous circulation may be factors of favorable outcome of this case.
Peculiar electrical and photoelectric behaviors in conducting multilayers: Insights into accumulative charge tunneling
Authors: Wang Min , Tang Qunwei , Chen Haiyan , He Benlin
Published: December 2013

Layer‐by‐layer self‐assembly is a versatile technique for the construction of well‐defined nanoarchitectures with outstanding electrical and photoelectric performances. The revelation of a potential charge‐transfer mechanism of extraordinary electrical and photoelectric behaviors is profound in the design of modern electrical and photoelectrical devices. With the aim of revealing the potential charge‐transfer mechanism in conducting multilayer films, in this study, we fabricated [poly(styrene sulfonate)/polyaniline]n [(PSS/PANi)n] multilayers with peculiar electrical and photoelectrical features. The fantastic increments in sheet conductivity and photoelectric response were believed to be the percolation reflection of accumulative electrons tunneled across the insulating PSS from the bottom to the top of the conjugated structure of PANi. These profound phenomena, along with simple fabrication and a well‐defined architecture, promise that the conducting multilayers will be good candidates for electronic and optoelectronic nanodevices. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40258.
Synthesis of cationic magnetite nanoparticles for intracellular protein delivery
Authors: Wang Zheng , Zhang Jianjun , Li Ruiduan , Chen Jianfeng
Published: December 2013

Intracellular protein delivery shows great promise in the treatment of various diseases. However, therapeutic applications of this method are limited by its low delivery efficiency and poor targeting ability. As one of most important drug delivery cargoes, Fe3O4 nanoparticles (nFe3O4) have attracted much attention for both therapeutic and diagnostic applications, especially for targeting drug delivery. To use nFe3O4 for protein delivery, a simple but effective modification of nFe3O4 is critical to attach proteins on its surface. In this work, by designing and synthesizing cationic poly(2‐(dimethylamino)ethyl methacrylate) (PDMA)‐grafted nFe3O4 via in situ atom transfer radical polymerization (ATRP), we demonstrate a simple solution to improve interactions between nFe3O4 and proteins. With the grafted PDMA on the surface, nFe3O4 exhibits not only significant enhancement in dispersibility and stability in aqueous phase, but also an excellent capability to attach negative‐charged proteins. Moreover, with the assistance of external magnetic field, PDMA‐grafted nFe3O4 can be used as a targetable vector to deliver proteins into specific cells. This work provides a novel platform based on cationic magnetite nanoparticles that can deliver therapeutic proteins into specific sites for the treatment of various diseases. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 40260.
Robust Nonlinear Control for Path Tracking of a Quad‐Rotor Helicopter
Authors: Raffo Guilherme V. , Ortega Manuel G. , Rubio Francisco R.
Published: December 2013

This paper presents a nonlinear robust control strategy to solve the path tracking problem for a quadrotor unmanned aerial vehicle. The main objective is to design controllers that provide certain required performances during the quadrotor flight, such as null tracking error and robustness in the presence of sustained external disturbances affecting the six degrees of freedom, parametric uncertainties, and unmodeled dynamics. The control structure is performed through a nonlinear controller to stabilize the rotational movements and a control law based on the backstepping approach with integral action to track the reference trajectory. Simulation results are carried out to corroborate the effectiveness and the robustness of the proposed strategy.
Coordination of semi‐actuated signals on arterials
Authors: Zhang Lihui , Lou Yingyan
Published: December 2013

This paper formulates an integrated mixed‐integer nonlinear programming model for coordinating semi‐actuated signals on arterials, with the vehicle actuation logic explicitly modeled and embedded. The decision variables are the common cycle length; offset points; phase sequences; green splits of the major phases; minimum green, unit green extension and maximum green of the minor phases which are optimized simultaneously. Two algorithms are employed to search for the optimal signal plans: one is the traditional genetic algorithm (GA), and the other is a GA‐based heuristic to save computation effort in earlier search stages. Numerical example is carried out to demonstrate the proposed model and algorithms. Copyright © 2013 John Wiley & Sons, Ltd.
Surgical anatomy of round window and its implications for cochlear implantation
Authors: Singla A. , Sahni D. , Gupta A.K. , Loukas M. , Aggarwal A.
Published: December 2013

The objective of this work was to study the morphometry and morphology of the round window (RW) and its relationships with the internal carotid artery, jugular bulb (JB), facial nerve and oval window (OW). Fifty cadaveric temporal bones were microdissected to expose the medial wall of the middle ear. The areas around the RW were cleared and its shape, height and width were noted. Its distances from the carotid canal (CC), jugular fossa (JF), facial canal (FC), and OW were measured. Oval, round, triangular, comma, quadrangular, and pear shapes of RW were observed. The average height and width of the RW were 1.62 ± 0.77 mm and 1.15 ± 0.39 mm, respectively. There was a statistically significant correlation (r = 0.4, P < 0.01) between the height and width. The distances between the RW and the CC, JF, FC, and OW were in the ranges 4.39–11.05 mm, 0.38–8.65 mm, 2.99–6.3 mm, and 1.39–3.57 mm, respectively. In 8% of cases, the distance between the RW and the JF was <1 mm. There were no statistically significant differences with regard to age group, gender, or side. Electrode insertion can be challenging in cases where the height and width of the RW are <1 mm. The thin bone separating the roof of the JF from the RW (<1 mm in 8%) highlights a potential risk of injury to the JB during cochleostomy placement. This information could be useful for selecting cochlear implant electrodes in order to avoid potential risks to vital neurovascular structures during implant surgery. Clin. Anat. 27:331–336, 2014. © 2013 Wiley Periodicals, Inc.
Characterization of oversulfated chondroitin sulfate rich in 4,6‐O‐disulfated disaccharides in breast cyst fluids collected from human breast gross cysts
Authors: Mannello Ferdinando , Maccari Francesca , Ligi Daniela , Canale Matteo , Galeotti Fabio , Volpi Nicola
Published: December 2013

Glycosaminoglycans (GAGs) from breast cyst fluid (BCF) of gross cysts, subdivided into apocrine and flattened, directly collected from 27 gross‐cystic‐breast‐disease (GCBD)‐affected women were analysed. Heparan sulfate, not further investigated, and chondroitin sulfate were identified. This last polysaccharide, in a content of 25–27 µg ml−1 BCF and having a high molecular mass (~20 000–22 000), was found rich in glucuronic acid (~96%–98%) and mainly sulfated in position 4 of the N‐acetyl‐galactosamine (~60%–64%). Moreover, the presence of ~19%–24% of uncommon 4,6‐O‐disulfated disaccharides CS‐E inside the polysaccharide chains with a high charge density of ~1.15–1.20 was determined. No substantial differences between apocrine and flattened cysts were observed. The current study describes the first effort to examine the yield and distribution of complex macromolecules like GAGs in BCF, and the understanding of their structure may help explain some functions associated with physiological and pathological conditions. Copyright © 2013 John Wiley & Sons, Ltd.
CFD Simulation and Modeling of Membrane‐Assisted Separation of Organic Compounds from Wastewater
Authors: Barati Fariborz , Ghadiri Mehdi , Ghasemi Reza , Nobari Hasan Mohammadi
Published: December 2013

The extraction of volatile organic compounds (VOC) from water in porous hollow fibers was simulated with toluene, a hazardous material. The system to be simulated included a VOC stream and air as stripping gas, which were contacted using a porous hollow‐fiber membrane contactor. To model the process, the contactor was considered as three compartments, including shell side, porous membrane, and tube side. The model equations were derived and solved using computational fluid dynamics of momentum and mass transfer in all zones of the contactor. The profiles of concentration and pressure were obtained for the VOC in the hollow fibers.
A comparison of material characterizations in frequently used constitutive models of ligaments
Authors: Wan Chao , Hao Zhixiu , Wen Shizhu
Published: December 2013

Longitudinal tensile and simple shear stress–strain curves of human medial collateral ligaments (MCL) were fitted by six frequently used constitutive relations of ligaments using two different fitting methods for determining which was the best fitting method and the most preferable constitutive model for describing the ligament properties. According to the results of fitting goodness, two typical constitutive models were further analyzed by FEM to investigate the effect of the variation in MCL constitutive models under some physiological loads (i.e., 4.5 Nm external tibial and 10 Nm valgus tibial torques). It was found that different fitting methods induced great variations in describing the simple shear behavior whereas no obvious difference in the longitudinal tensile behavior. The most accurate description of both the longitudinal tensile and simple shear behaviors was obtained from the constitutive model with ground substance defined by an exponential function when the parameters were fitted by the two test data, respectively. Although the distributions of maximal principal stress were almost the same, the variation in MCL constitutive models affected the highest value of the stress greatly when MCL was under the complex physiological loads. Copyright © 2013 John Wiley & Sons, Ltd.
Diet and diabetes: a cornerstone for therapy
Authors: Pozzilli Paolo , Fallucca Francesco
Published: December 2013

An appropriate diet represents the cornerstone for diabetes therapy. Diets that differ in their carbohydrate, lipid and protein content are used but the evidence of their effects on the long term is missing. Several confounding factors and compliance to diet render difficult the evaluation of the ‘best diet’ for diabetes. On a short run, however, useful indications can be obtained regarding the effective diets capable to optimize metabolic control in type 2 diabetes. Copyright © 2013 John Wiley & Sons, Ltd.
Effect of diet on type 2 diabetes mellitus: a review
Authors: Khazrai Y. M. , Defeudis G. , Pozzilli P.
Published: December 2013

Type 2 diabetes mellitus is one of the fastest growing diseases; the number of people affected by diabetes will soon reach 552 million worldwide, with associated increases in complications and healthcare expenditure. Lifestyle and medical nutrition therapy are considered the keystones of type 2 diabetes prevention and treatment, but there is no definite consensus on how to treat this disease with these therapies.

The American Diabetes Association has made several recommendations regarding the medical nutrition therapy of diabetes; these emphasize the importance of minimizing macrovascular and microvascular complications in people with diabetes. Four types of diets were reviewed for their effects on diabetes: the Mediterranean diet, a low‐carbohydrate/high‐protein diet, a vegan diet and a vegetarian diet.

Each of the four types of diet has been shown to improve metabolic conditions, but the degree of improvement varies from patient to patient. Therefore, it is necessary to evaluate a patient's pathophysiological characteristics in order to determine the diet that will achieve metabolic improvement in each individual.

Many dietary regimens are available for patients with type 2 diabetes to choose from, according to personal taste and cultural tradition. It is important to provide a tailor‐made diet wherever possible in order to maximize the efficacy of the diet on reducing diabetes symptoms and to encourage patient adherence. Additional randomized studies, both short term (to analyse physiological responses) and long term, could help reduce the multitude of diets currently recommended and focus on a shorter list of useful regimens. Copyright © 2013 John Wiley & Sons, Ltd.
CD5 enhances Th17‐cell differentiation by regulating IFN‐γ response and RORγt localization
Authors: McGuire Donald J. , Rowse Amber L. , Li Hao , Peng Binghao J. , Sestero Christine M. , Cashman Kevin S. , De Sarno Patrizia , Raman Chander
Published: December 2013

Mechanisms that modulate the generation of Th17 cells are incompletely understood. We report that the activation of casein kinase 2 (CK2) by CD5 is essential for the efficient generation of Th17 cells in vitro and in vivo. In our study, the CD5–CK2 signaling pathway enhanced TCR‐induced activation of AKT and promoted the differentiation of Th17 cells by two independent mechanisms: inhibition of glycogen synthase kinase 3 (GSK3) and activation of mTOR. Genetic ablation of the CD5–CK2 signaling pathway attenuated TCR‐induced AKT activation and consequently increased activity of GSK3 in Th17 cells. This resulted in increased sensitivity of Th17 cells to IFN‐γ‐mediated inhibition. In the absence of CD5‐CK2 signaling, we observed decreased activity of S6K and attenuated nuclear translocation of RORγt (ROR is retinoic acid receptor related orphan receptor). These results reveal a novel and essential function of the CD5–CK2 signaling pathway and GSK3–IFN‐γ axis in regulating Th‐cell differentiation and provide a possible means to dampen Th17‐type responses in autoimmune diseases.
Synthesis and Studies of Aza‐BODIPY‐Based π‐Conjugates for Organic Electronic Applications
Authors: Khan Tamanna K. , Sheokand Preeti , Agarwal Neeraj
Published: December 2013

Aza‐boron‐dipyromethene (aza‐BODIPY) derivatives 1–6 were synthesized for the first time by employing the palladium catalyzed Suzuki–Miyaura coupling on dibromo‐aza‐BODIPY. Photophysical and electrochemical properties of these compounds were studied in solution. Absorption and emission maxima were observed in the near‐infrared (NIR) region and were found to extend up to 754 and 751 nm, respectively. NIR fluorescence quantum yields in chloroform were as high as 0.45. Optical band gaps were measured from the onset of absorption spectra in thin films and were found to be low (ca. 1.2–1.4 eV). Electrochemical studies provided insight into the reduction potentials of these compounds and consequently the electron affinity (EA). High electron affinity (ca. 4.5) was observed for these dyes. NIR absorption and emission, good quantum yield, and high electron affinity of these compounds promise their applications in microscope imaging and optoelectronic devices, mainly in solar cells and field‐effect transistors.