bluuebunny/crossref_metadata_2025 huggingface dataset:
Organiser les inorganisés
Authors: Béroud Sophie
Published: April 2009

Résumé Cet article analyse deux tentatives menées par des équipes syndicales de la CGT pour organiser des salariés précaires, l’une dans un site de construction automobile, l’autre dans un centre commercial. Les efforts pour toucher ces salariés, pour adapter les revendications et les modalités d’action à leurs conditions de travail, s’entrecroisent avec les objectifs de syndicalisation, sans les recouvrir complètement. Des tensions en découlent, l’action en direction des précaires relevant d’une temporalité longue pour aboutir éventuellement à des adhésions et posant de nombreuses difficultés aux syndicats. De ce fait, les équipes qui se lancent dans ces expériences de redéploiement se retrouvent peu soutenues par les structures syndicales interprofessionnelles et s’épuisent vite, soit parce que les militants sont aspirés par d’autres tâches, soit parce qu’ils sont soumis eux-mêmes à la précarité. Les deux cas étudiés permettent, dès lors, de réfléchir à la façon dont une organisation comme la CGT envisage l’extension de son champ d’influence et hiérarchise, de façon implicite, ses priorités.
Meetings de fin de campagne au Mexique et ethnographie des milieux partisans
Authors: Combes Hélène
Published: April 2009

Résumé Les meetings donnent à voir comment les partis inscrivent leurs identités partisanes dans l’espace urbain, mais également comment cette inscription dans l’espace urbain est, en retour, productrice d’identité(s) partisane(s). L’analyse ethnographique, combinée à la réalisation d’entretiens et d’une enquête par questionnaires, a permis de comprendre de plus près les reconfigurations du militantisme et des milieux partisans des trois principaux partis du Mexique : l’affirmation des appareils locaux (« la structure territoriale ») face aux structures corporatistes dans le cas du PRI ; l’émergence d’entrepreneurs de mobilisation indépendants dans le cas du PAN (et ce malgré la force de l’appareil du parti) ; la diversité de l’encadrement militant et le lien lâche au label partisan dans le cas du PRD. Ce travail a aussi mis en relief les variations des ethos et des sociabilités militantes en fonction des partis, ainsi que l’importance variable de la famille ou des réseaux affinitaires. Enfin, il permet de mieux comprendre comment la mobilisation partisane repose aussi sur l’existence d’une « économie morale » : un ensemble spécifique d’appréciations normatives, par nature ambivalentes, concernant le rapport au parti et à ses ressources.
Les premières élections libres en Russie (1989-1990)
Authors: Sigman Carole
Published: April 2009

Résumé Cet article s’interroge sur les effets des premières élections libres sur l’espace politique dans des situations de « transition à la démocratie ». La compétition a-t-elle besoin d’être « libre et sincère », comme semblent le considérer les transitologues, pour provoquer l’effondrement d’un régime autoritaire ? Les élections qui ont eu lieu en Russie en 1989 et 1990 montrent que, dès lors qu’est introduite une dose de compétition, même fortement encadrée, la structure du jeu politique peut se trouver complètement bouleversée et des dignitaires de l’ancien régime propulsés à la tête de l’opposition démocratique. Les clubs « informels », organisations politiques nouvelles qui revendiquaient ce statut, étaient apparus au milieu des années 1980 grâce à la perestroïka qui a créé les conditions de la compétition. Or cette compétition, devenue effrénée lors des élections, a fini par les dévorer.
L'influence de l'offre de soins et du niveau des primes sur la demande d'assurance complémentaire santé en France
Authors: Legal Renaud
Published: April 2009

Résumé Les assurances complémentaires pèsent de plus en plus dans le paysage de la protection sociale. Dans ce contexte, identifier les préférences individuelles en matière de couverture complémentaire devient une question cruciale, aussi bien pour les organismes complémentaires que pour les pouvoirs publics. Cet article utilise la base de données d’un important assureur santé français et profite des variations interdépartementales exogènes du niveau des primes pour estimer la sensibilité de la demande d’assurance complémentaire au montant de la prime et au contexte local d’offre de soins. Nos résultats montrent que le poids de la contrainte budgétaire semble prépondérant dans le processus de décision de l’assuré. Dès lors, toute augmentation brutale du niveau des primes aurait des conséquences graves en matière de couverture.
The Regulation of Hedge Funds under the Prism of the Financial Crisis. Policy Implications
Authors: Aglietta Michel , Rigot Sandra
Published: April 2009

Résumé L’objet de cet article est double : d’une part montrer que les arguments qui justifiaient une régulation allégée des hedge funds ne sont désormais plus valables étant donné le changement structurel des marchés financiers et l’évolution récente de l’industrie des hedge funds qui en font des acteurs à enjeux systémiques et d’autre part apporter un nouvel éclairage sur la forme que doit revêtir la réglementation des hedge funds . Pour cela, nous procédons dans la première section à une clarification de la logique des arguments en faveur de la discipline de marché et de la régulation indirecte qui constituent l’approche réglementaire des hedge funds . Dans la seconde section, nous faisons une analyse théorique et empirique des risques associés aux stratégies des hedge funds . Nous montrons en quoi ils sont générateurs de risque systémique et en quoi ils sont des propagateurs de la crise du crédit structuré de l’été 2007. Dans la troisième section, nous faisons la synthèse des recommandations à la fois des organisations professionnelles, des autorités de régulation et des institutions internationales au regard de la cartographie des risques des hedge funds . Cette mise en perspective permet de distinguer quels sont les besoins de régulation directe des hedge funds et quelles sont les améliorations qui résulteraient indirectement d’une réforme de la régulation des autres acteurs qui interviennent dans la titrisation du crédit. Elle devrait se situer à la fois aux niveaux microéconomique et macroéconomique, concerner les facteurs de demande et d’offre, renforcer les prérogatives du régulateur public et enfin définir précisément les conditions d’une discipline de marché efficace dont les acteurs seraient les investisseurs institutionnels de long terme. Classification JEL – G23.
Plan Marshall wallon : une évaluation ex ante en référence à la politique industrielle et d'innovation
Authors: Van Haeperen Béatrice , Lefèvre Martine , Dejardin Marcus
Published: April 2009

Résumé L’article propose une évaluation ex ante du Plan d’Actions Prioritaires pour l’Avenir wallon (PAP), ou Plan Marshall wallon. Parce qu’elles sont nouvelles et parce qu’elles constituent le cœur de la politique des pôles de compétitivité, politique emblématique du Plan Marshall, ce sont les mesures reprises sous l’enseigne du « développement du capital immatériel », qui retiennent particulièrement l’attention. L’exercice d’évaluation permet de mettre plus spécialement en évidence la rationalité de l’intervention publique en matière d’innovation.
La Mode n'est plus à la mode
Authors: Maier Corinne
Published: April 2009

Résumé La mode se porte mal, mais les modes de jouir prolifèrent. La mode est-elle un phénomène rationnel ? Vise-t-elle la massification des comportements, ou a-t-elle pour objectif de produire de la différence ? On tentera d’argumenter l’idée que dans l’avenir, il y aura de moins en moins de mode pour le plus grand nombre, mais de plus en plus de mode pour des minorités tentant de s’affirmer comme telles.
L'image du corps et la scène architecturale
Authors: Yvan Frédéric
Published: April 2009

Résumé Dans la Traumdeutung , Freud écrit que c’est « la maison qui constitue la seule représentation typique, c’est-à-dire régulière de l’ensemble de la personne humaine ». L’architecture serait ainsi non seulement une des images du corps mais l’image la plus caractéristique du corps propre. Après avoir rappelé la tradition architecturale ayant établi une manière d’homologie structurelle entre le corps et l’architecture – en faisant du corps le modèle de l’architecture –, nous nous attachons à présenter comment l’identification à l’image spéculaire est une expérience spatiale qui initie une scène architecturale – la scène du monde. Une lecture de La chute de la maison Usher , d’Edgar Allan Poe, nous permet de montrer combien l’image du corps et la scène architecturale peuvent aller jusqu’à se confondre.
La psychanalyse à l'Index ?
Authors: Desmazières Agnès
Published: April 2009

Résumé En 1934, Sigmund Freud renonce à publier Moïse et le monothéisme par crainte de voir la psychanalyse interdite en Autriche sous l'effet de pressions vaticanes. Qu?en est-il de la réalité de ces menaces ? Les interventions de la Civiltà cattolica, organe officieux du Saint-Siège, et de scientifiques catholiques de renom, tels le psychologue Agostino Gemelli et l'ethnologue Wilhelm Schmidt, révèlent l'existence, dans les milieux vaticanais, de points de vue contrastés sur la psychanalyse. L?athéisme de son fondateur et, plus encore, les dérives de la nouvelle discipline en matière de pédagogie sont sévèrement critiqués. Plusieurs auteurs catholiques rendent toutefois hommage à la contribution de la psychanalyse à une psychologie plus humaine et à une remise en cause d?une morale traditionnelle centrée sur l'obligation. Le Saint-Office lui-même, examinant l'ouvrage d?Edoardo Weiss, Elementi di psicoanalisi , évite de condamner formellement la psychanalyse pour ces raisons. Si un courant hostile à la psychanalyse est bien présent et agissant au Vatican, il ne semble toutefois pas avoir réussi à convaincre les plus hautes autorités de l'Église catholique à intervenir.
L'évaluation des enseignants-chercheurs
Authors: Charle Christophe
Published: April 2009

Résumé Depuis dix ans en France, depuis plus longtemps ailleurs, le souci de l’évaluation est devenu le leitmotiv du discours de pilotage de l’enseignement supérieur et de la recherche. On agite en haut lieu et dans les médias généralistes des indicateurs globaux qui classent tantôt les universités, tantôt la productivité scientifique, tantôt les individus eux-mêmes, sans précaution ni réflexion sur le sens des indicateurs eux-mêmes ou leur origine et leur fiabilité. Pour aboutir à un diagnostic plus équilibré et à des propositions qui évitent les effets de mode, cet article, après avoir fait l’état des défauts du système actuel, analyse de manière critique les nouvelles procédures proposées et tire de cette double critique quelques propositions concrètes plus particulièrement adaptées à l’histoire, discipline carrefour entre les humanités et les sciences sociales et qui présente même certaines analogies avec d’autres sciences plus expérimentales de type cumulatif, ce qui peut permettre de leur donner une valeur plus générale.
Regional Development in the Regional Division of Slovenia
Authors: Ravbar Marjan
Published: April 2009

In the reform of the institutional system with the introduction of a second level of local self-gov-ernment, factors of balanced regional development play an important role. These are linked to the suitable division of Slovenia into functionally rounded areas and the evaluation of variant divisions and the effects of the polycentric basis of the network of settlements and the decentralization of institutions. The size and geographical position of regions are of strategic importance for the country's regional and spatial plan-ning policies.
The expansion of Ljubljana onto the Ljubljansko barje moor
Authors: Gašperič Primož
Published: April 2009

Ljubljana began its southward expansion south relatively late because the characteristics of the Ljubljansko Barje moor had a hindering effect on the expanding process of the city. However, with the gradual development of industry and commerce and the growing number of immigrants, the process of urbanization gradually started to spread into this area. The beginnings of the expansion began in the 1960's and intensified from the 1970's on. Along with organized construction, unregulated illegal construction was very widespread and settled numerous areas that were later rounded out and individual parts of pre-viously still unurbanized areas. Supervision over these construction sites was poor and allowed uncontrolled settling, which in places dictated the directions of further urban development. Due to its proximity of the center of the city, the area considered in this study became increasingly impor-tant. The number of activities increased greatly, shopping centers and the infrastructure network developed, and the comprehensive solution of communal network is still in the process of formation. Although this study covers only a part of the entire city, numerous smaller areas within it developed that have their individual characteristics and differ greatly, which is reflected in the pattern of settling, the devel-opment of the areas, and the structure of the population. For this reason, the area studied is extremely heterogeneous and, as such, a challenge for further research.
Deterministic modeling of landslide and rockfall risk
Authors: Zorn Matija , Komac Blaž
Published: April 2009

The article presents two deterministic methods for the elaboration of landslide and rock-fall source area maps and, considering human activity in the landscape, for the elaboration of landslide and rockfall risk maps. Risk maps are one of the fundamental bases for protection against natural disasters since they illustrate the risks to areas of human activity due to various natural processes. Using the weighting method and for the first time the matrix method, we established the extent of land-slide and rockfall source areas in the Upper Savinja Valley and the risk due to these processes relative to settlement, roads, land use, and rivers and streams. The methodology for elaborating maps using both approaches is described in detail as well as the differ-ences between them. The basic purpose of risk maps is to direct human encroachment in the landscape to safe areas.
A creative milieu and the role of geography in studying the competitiveness of cities: the case of Ljubljana
Authors: Ravbar Marjan , Bole David , Nared Janez
Published: April 2009

The article is composed of two parts. The first is based on theoretical geographical-devel-opmental factors of balanced competitiveness of cities (regions) in conditions of globalization and the emphasized role of a creative milieu as fundamental development impulses. The second one explores the importance of Ljubljana and its role in the system of innovative urban centers in contrast to the metrop-olis agglomerations in the wider surroundings employing empirical findings. We support its position using the geographical dimensions of innovative dynamics as the fundamental development generator for the entire national urban system and evaluate its developmental research potential as well as investment, eco-nomic, and population capacities from the viewpoint of the opportunities offered by its central position and function as a capital city.
Measuring winter precipitation with snow cover water accumulation in mountainous areas
Authors: Ogrin Matej
Published: April 2009

Precipitation variability in mountainous regions is much bigger, than it is possible to conclude from data of a few meteorological stations in this area. There are big differences between windy sides, lee sides and the valleys. During winter, when snow precipitation prevails, snow accumulates on ground as snow cover, which enables us to see the variability of precipitation on small scale. Results of research-ing snow cover give us more precise data and show us new facts about precipitation variability in Julian Alps and their surroundings and in Karavanke.
Slovenian coast sea floods risk
Authors: Kolega Nataša
Published: April 2009

Article gives a review of sea floods on Slovenian coast with emphasis on their formation, extent and consequences. Sea floods are occurring every year, but they vary in frequency and extent. Consequently, the damage caused by floods also varies. Sea floods rise with flood tides, strong south winds and drops in air pressure. They are more frequent in autumn and winter, but they occur in spring too. The article presents a complete review of sea floods from the beginning of measurements in Koper to present-day, an analysis of flooded regions and influence of climate changes on sea floods.
Spatial and functional changes in built-up areas in selected slovene rural settlements after 1991
Authors: Topole Maja , Bole David , Petek Franci , Repolusk Peter
Published: April 2009

We determined changes in the settled areas of rural settlements by means of aerial photos and orthophotos, statistical data, and data obtained through field research. The expert sample comprised 14 rural settlements with 500 to 1100 inhabitants from a variety of Slovene natural and statistical regions which in the past ten-year period have shown positive growth in the number of inhabitants, jobs, and houses. We identified how the following categories changed in settled areas in the period from 1991 to 2005: residential areas, areas with central functions (supply, service, and business), traffic areas and green and other open spaces. Most apparent were differences among the types of settlements. We related land use to the relief and type of settlement, to the geographical location of the settlement, to changes in its structure, and to trends in the number of jobs and extent of commuting.
Atlant and Slovene national consciousness in the second half of the 19th century
Authors: Urbanc Mimi , Fridl Jerneja , Kladnik Drago , Perko Drago
Published: April 2009

The geographic literature made an important contribution to the development of national consciousness among Slovenes in the 19thcentury, as well as to the reinforcement of Slovene identity after Slovenia's independence in 1991. A typical example of this kind of geographic publication is Atlant, the first atlas of the world in the Slovene language, which was published in installments from 1869 to 1877. Atlant followed the concept of a Unified Slovenia, and this idea boosted the confidence of Slovenes, the bulk of whom were incorporated into Austria-Hungary as they entered the stage of European politics as a nation for the first time. With the publication of Atlant, a number of geographical names were trans-lated into Slovene or Slovenized for the first time. The geographic, linguistic, and political conditions in which Slovenes lived, as well as the relations at the time between Slovene, German, and Slavic languages, are reflect-ed in the way foreign place names were adapted. The reprinting of Atlant in 2005 is also associated with a critical period in history, since it was published after the independence of Slovenia and its inclusion in the European Union, a time when the young state has been seeking its identity among all the world's nations.
Occupational stress, sense of coherence, coping, burnout and work engagement of registered nurses in South Africa
Authors: Van der Colff Johanna J. , Rothmann Sebastiaan
Published: April 2009

The aim of this study was to assess the relationship between the occupational stress, sense of coherence, coping, burnout and work engagement of registered nurses in South Africa. A cross-sectional survey design was used. The study population consisted of 818 registered nurses. The Nursing Stress Inventory, the Orientation to Life Questionnaire, the COPE, the Maslach Burnout Inventory-Human Services Survey, and the Utrecht Work Engagement Scale were administered. The results show that the experience of depletion of emotional resources and feelings of depersonalisation by registered nurses were associated with stress due to job demands and a lack of organisational support, focus on and ventilation of emotions as a coping strategy, and a weak sense of coherence. Work engagement was predicted by a strong sense of coherence and approach-coping strategies.
First Transformation of Unsaturated Fatty Esters Involving Enyne Cross‐Metathesis
Authors: Le Ravalec Virginie , Fischmeister Cédric , Bruneau Christian
Published: April 2009

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The ruthenium‐catalysed enyne cross‐metathesis of several alkyne derivatives with terminal olefins was performed. These reactions were efficiently achieved under mild conditions in dimethyl carbonate, an eco‐friendly solvent. A unique one‐pot reaction based on an ethenolysis step followed by an enyne cross‐metathesis allowed the efficient transformation of renewable unsaturated fatty esters into valuable conjugated 1,3‐dienes of interest for further transformations.
Mechanism of the Asymmetric Sulfoxidation in the Esomeprazole Process: Effects of the Imidazole Backbone for the Enantioselection
Authors: Seenivasaperumal Muthu , Federsel Hans‐Jürgen , Szabó Kálmán J.
Published: April 2009

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The asymmetric sulfoxidation reaction of imidazole‐based prochiral sulfides was studied to explore the mechanistic details of the highly efficient esomeprazole process, which is one of the few industrial scale catalytic asymmetric procedures. The synthetic studies revealed that the smallest subunit governing the selectivity in the esomeprazole process is an imidazole ring. Thus, by using the esomeprazole procedure methyl imidazole sulfide could be oxidized as efficiently as its several functionalized derivatives, including pyrmetazol. However, alkylation of the imidazole nitrogen led to a major drop of the enantioselectivity. Our atmospheric pressure chemical ionization‐mass spectrometry (APCI/MS) studies indicate that addition of small amounts of water to the reaction mixture facilitates the formation of mononuclear titanium species, which are the active catalytic intermediates of the selective oxidation reaction. One of the most important features of the esomeprazole procedure is that amine additives increase the enantioselectivity of the oxidation process. The NMR studies of the presumed reaction intermediates show that under catalytic conditions the amines are able to coordinate to titanium and dissociate the coordinated imidazole substrate. The density functional theory (DFT) modelling studies provided new insights in the mechanism of the asymmetric induction. It was found that the oxidation requires a lower activation energy if the imidazole sulfide precursor does not coordinate to titanium. Two possible reaction paths were explored for this out of sphere oxidation mechanism. The most important interaction governing the enantioselection is hydrogen bonding between the NH of the imidazole ring and the chiral tartrate ligand on titanium. Furthermore, the oxidation reaction imposes an important structural constraint to the TS structure involving a linear arrangement of the peroxide oxygens and the sulfur atom. This constraint and the N coordination of imidazole leads to a very strained structure for the inner sphere mechanism of the oxidation, which leads to a much higher activation barrier than the corresponding out of sphere process, and therefore it is unlikely.
Selective Preparation of Diamondoid Fluorides[1]
Authors: Schwertfeger Hartmut , Würtele Christian , Hausmann Heike , Dahl Jeremy E. P. , Carlson Robert M. K. , Fokin Andrey A. , Schreiner Peter R.
Published: April 2009

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The selective fluorination of diamantane, triamantane, [121]tetramantane, and [1(2,3)4]pentamantane bromides and alcohols was achieved by using the fluorinating agents silver fluoride (AgF) and diethylaminosulfur trifluoride (DAST). Various mono‐, di‐, tri‐ and even tetrafluorinated diamondoid derivatives were prepared and characterized. We were also able to prepare the amino fluoro and the fluoro alcohol derivatives of diamantane from the corresponding monoprotected diamondoid diols. These reactions can be carried out in a highly selective manner and proceed without isomerizations. The fluorinated, unequally disubstituted derivatives are valuable compounds for the exploration of electronic, pharmacological, and material properties of functionalized diamondoids.
Modeling the phase behavior of ternary systems ionic liquid + organic + CO2 with a Group Contribution Equation of State
Authors: Kühne Eliane , Martin Angel , Witkamp Geert‐Jan , Peters Cor J.
Published: April 2009

This work presents the results of the use of a Group Contribution Equation of State (GC‐EOS) to model experimental data obtained for ternary systems of the type bmim[BF4] + organic solute + CO2 with four different organic compounds, namely acetophenone, 1‐phenylethanol, 4‐isobutylacetophenone, and 1‐(4‐isobutylphenyl)‐ethanol. Our results show that the GC‐EOS is able to qualitatively predict not only L+V→L but also L1+L2→L phase transitions. As the two two‐phase boundaries L+V and L1+L2 of the experimentally found three‐phase region L1+L2+V almost coincide with the saturated vapor pressure curve of pure CO2, the phase transitions L+V→L1+L2+V and L1+L2+V→L1+L2 have been represented as this vapor‐pressure curve by the model. The average absolute deviations between experimental and predicted values for all phase transitions have been found to be very satisfactory. © 2009 American Institute of Chemical Engineers AIChE J, 2009
Double‐deck aerated biofilm membrane bioreactor with sludge control for municipal wastewater treatment
Authors: Phattaranawik Jirachote , Leiknes Torove
Published: April 2009

Alternative designs of an aerated moving‐bed biofilm reactor and a flat‐sheet membrane module for a biofilm membrane bioreactor process have been investigated to overcome a membrane clogging problem and to determine the performance of a new membrane module. Double‐deck aerated biofilm reactor with integrated designs of sludge hopper, thickener, and velocity‐zone concept for particle settlement was evaluated for the suspended solid control and removal. Hydrodynamics of bubbling, liquid, and solid particles were arranged in the bioreactor to obtain a particle settlement. New membrane modules used under low suspended solid environment having smaller membrane gaps were evaluated for filtration performance and clogging problems for long‐term operation. The average suspended solids concentration in the bioreactor effluent was 44.6 mg/L. Relaxation applied with the membrane module provided the most optimum result for fouling control, and no clogging problems in the modules were observed in the system after continuous operation of 3 weeks. © 2009 American Institute of Chemical Engineers AIChE J, 2009
Group contribution methods for the prediction of thermophysical and transport properties of ionic liquids
Authors: Gardas Ramesh L. , Coutinho João A. P.
Published: April 2009

Thermophysical and transport properties of ionic liquids are required for the design of processes and products. Yet the experimental data available are scarce and often contradictory. Based on experimental data collected from the literature, group contribution methods were developed for the estimation of viscosity, electrical conductivity, thermal conductivity, refractive index, isobaric expansivity, and isothermal compressibility, of various families of ionic liquids. Using the Stokes–Einstein relation a correlation for the self‐diffusion coefficients with the viscosity is also proposed. The results of the proposed models show average absolute relative deviations generally of the same order of the experimental accuracy of the data. They are easy to use and can provide predictions of property values for ionic liquids never previously studied. The group contribution basis of these models will allow them to be extended to new groups of cations and anions as further data became available. © 2009 American Institute of Chemical Engineers AIChE J, 2009
Agglomeration modeling of small and large particles by a diffusion theory approach
Authors: Realpe Alvaro , Velázquez Carlos , Obregón Luis
Published: April 2009

The interaction particle‐binder during the wet granulation process plays a major role in the agglomeration of particles. This interaction has been modeled by a force balance acting on the particle where the binder's viscous force increases the strength of liquid bridge and facilitates the particle agglomeration. In this work, agglomeration kernels based on Brownian movement approach of small particles in the binder layer, the size ratio between particles (monodispersed and polydispersed), and binder's viscous forces were considered to model the wet granulation process of pharmaceutical powders in a laboratory‐scale high shear mixer. The assumptions of no‐stationary and pseudostationary behavior were suitable to describe the growth kinetics of the two stages (fast and slow) observed. A volume ratio of 150 between large and small particles produces the most effective granulation growth. The developed kernels were tested simulating experimental data obtained from a high shear mixer. © 2009 American Institute of Chemical Engineers AIChE J, 2009
Application of the random pore model to the carbonation cyclic reaction
Authors: Grasa Gemma , Murillo Ramón , Alonso Mónica , Abanades J. Carlos
Published: April 2009

Calcium oxide has been proved to be a suitable sorbent for high temperature CO2 capture processes based on the cyclic carbonation‐calcination reaction. It is important to have reaction rate models that are able to describe the behavior of CaO particles with respect to the carbonation reaction. Fresh calcined lime is known to be a reactive solid toward carbonation, but the average sorbent particle in a CaO‐based CO2 capture system experiences many carbonation‐calcination cycles and the reactivity changes with the number of cycles. This study applies the random pore model (RPM) to estimate the intrinsic rate parameters for the carbonation reaction and develops a simple model to calculate particle conversion with time as a function of the number of cycles, partial pressure of CO2, and temperature. This version of the RPM model integrates knowledge obtained in earlier works on intrinsic carbonation rates, critical product layer thickness, and pore structure evolution in highly cycled particles. © 2009 American Institute of Chemical Engineers AIChE J, 2009
Finding twinkle in the eyes of a 71‐year‐old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE‐related dominant disease
Authors: Van Hove Johan L.K. , Cunningham Vicki , Rice Cathlin , Ringel Steven P. , Zhang Qing , Chou Ping‐Chieh , Truong Cavatina K. , Wong Lee‐Jun C.
Published: April 2009

Progressive external ophthalmoplegia (PEO) can be caused by a disorder characterized by multiple mitochondrial DNA (mtDNA) deletions due to mutations in the TWINKLE gene, encoding a mtDNA helicase. We describe a 71‐year‐old woman who had developed PEO at age 55 years. She had cataracts, diabetes, paresthesias, cognitive defects, memory problems, hearing loss, and sensory ataxia. She had muscle weakness with ragged red fibers on biopsy. MRI showed static white matter changes. A c.908G>A substitution (p.R303Q) in the TWINKLE gene was identified. Multiple mtDNA deletions were detected in muscle but not blood by a PCR‐based method, but not by Southern blot analysis. MtDNA copy number was maintained in blood and muscle. A systematic literature search was used to identify the genotypic and phenotypic spectrum of dominant TWINKLE‐related disease. Patients were adults with PEO and symptoms including myopathy, neuropathy, dysarthria or dysphagia, sensory ataxia, and parkinsonism. Diabetes, cataract, memory loss, hearing loss, and cardiac problems were infrequent. All reported mutations clustered between amino acids 303 and 508 with no mutations at the N‐terminal half of the gene. The TWINKLE gene should be analyzed in adults with PEO even in the absence of mtDNA deletions in muscle on Southern blot analysis, and of a family history for PEO. The pathogenic mutations identified 5' beyond the linker region suggest a functional role for this part of the protein despite the absence of a primase function in humans. In our patient, the pathogenesis involved multiple mtDNA deletions without reduction in mtDNA copy number. © 2009 Wiley‐Liss, Inc.
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria‐polydactyly hydrocephalus syndromes
Authors: Gripp Karen W. , Hopkins Elizabeth , Vinkler Chana , Lev Dorit , Malinger Gustavo , Lerman‐Sagie Tally , Dobyns William B.
Published: April 2009

We report on three patients with macrocephaly and polymicrogyria, and additional anomalies seen in megalencephaly polymicrogyria‐polydactyly hydrocephalus (MPPH) and macrocephaly capillary malformation (MCM) syndromes. Based on their characteristic brain malformations they were originally diagnosed with MPPH. In one patient the phenotype evolved during early infancy, and ultimately resulted in a diagnosis of MCM. A second was prenatally diagnosed with MPPH, but postnatally visualized capillary malformations led to a diagnosis of MCM. In a third, the original MPPH diagnosis was reconsidered after a critical review revealed additional subtle findings suggestive of MCM. Characteristic brain malformations are thought to distinguish between MPPH with perisylvian polymicrogyria, and MCM with megalencephaly with Chiari 1 malformation. However, polymicrogyria was reported in a significant number of patients with MCM. Conversely, upon review of imaging studies of patients with MPPH, we noted progressive crowding of the posterior fossa and acquired tonsillar herniation, a process deemed characteristic for MCM. Thus, neither polymicrogyria nor acquired tonsillar herniation are distinguishing features, and occur in both disorders. In addition to brain abnormalities, shared findings include cognitive impairment, coarse facial features and postaxial polydactyly. Facial nevus flammeus and cutis marmorata are most noticeable in infancy, and ligamentous laxity and redundant soft tissue are somewhat subjective findings. While asymmetric overgrowth is considered typical for MCM, it is not universally present. These variable and subtle findings can be identified in patients with MPPH. We propose that MPPH and MCM may not represent distinct entities and that the term MPPH‐CM syndrome be used to describe this spectrum. © 2009 Wiley‐Liss, Inc.
Rationale and background as basis for a new classification of the ectodermal dysplasias
Authors: Itin Peter H.
Published: April 2009

Ectodermal dysplasias are heterogeneous heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages. Of approximately 200 different ectodermal dysplasias, about 30 have been identified at molecular level with identification of the causative gene. Itin and Fistarol emphasized that rather commonly non‐fully expressed phenotypes exist, which make a clinical diagnosis more difficult. Freire‐Maia and Pinheiro used the clinical aspects for their classification and Priolo integrated molecular genetic and clinical aspects for her scheme. Those two more historical classification schemes have the difficulty that when applied strictly, several additional groups of disorders should be integrated within the term of ectodermal dysplasias, for example, keratodermas with skin or hair alterations or the ichthyoses with associated abnormalities. Such consequent classification would lead to an endless list of conditions and would be useless for practical work. Recent evidence implicates a genetic defect in different pathways orchestrating ectodermal organogenesis. Modern molecular genetics will increasingly elucidate the basic defects of the different syndromes and yield more insight into the regulatory mechanisms of morphogenesis. In this way a reclassification of ectodermal dysplasias will be possible according to the function of their involved mutated genes. I will focus on the fact that with molecular methods it is possible to diagnose oligosymptomatic forms of ectodermal dysplasia. This is much more common than earlier anticipated and with the classification of ectodermal dysplasia on the basis of molecular diagnosis a new avenue is opened for symptom complexes which were impossible to classify in former times. © 2009 Wiley‐Liss, Inc.
Split hand‐foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity?
Authors: Aten Emmelien , den Hollander Nicolette , Ruivenkamp Claudia , Knijnenburg Jeroen , van Bokhoven Hans , den Dunnen Johan , Breuning Martijn
Published: April 2009

Congenital limb malformations are the second most common birth defects observed in infants. Split hand foot malformation (SHFM), also known as central ray deficiency, ectrodactyly and cleft hand/foot, occurs isolated or in combination with other malformations. We report on a male patient with SHFM, tetralogy of Fallot and a clinical phenotype suggestive of Angelman syndrome. Using array based genome analysis (3K BACs and 500K SNPs), we identified a de novo deletion of chromosome 19p13.11, confirmed by Fluorescent In Situ Hybridization analysis. The deletion is 0.99 Mb in size and contains 28 genes. The proximal breakpoint of the deletion is in EPS15L1, which may be involved in vertebrate limb development. Subsequent screening of 21 syndromic and nonsyndromic SHFM patients (TP73L mutation negative) for rearrangements using Multiplex Ligation‐dependent Probe Amplification did not detect other deletions or duplications in chromosome 19. These findings suggest that our patient may have a new contiguous gene syndrome and indicates that SHFM is genetically more heterogeneous than currently known. © 2009 Wiley‐Liss, Inc.
Compound heterozygous ASPM mutations in Pakistani MCPH families
Authors: Muhammad Farooq , Mahmood Baig Shahid , Hansen Lars , Sajid Hussain Muhammad , Anjum Inayat Iram , Aslam Muhammad , Anver Qureshi Javed , Toilat Muhammad , Kirst Elisabeth , Wajid Muhammad , Nürnberg Peter , Eiberg Hans , Tommerup Niels , Kjaer Klaus W.
Published: April 2009

Autosomal recessive primary microcephaly (MCPH) is characterized by reduced head circumference (≤4 SD) and mental retardation without any other neurological manifestation. Of the four identified MCPH genes, homozygous truncating mutations in ASPM (MCPH5) account for >50% of all reported families. In spite of the high frequency of MCPH in Pakistan only one case of compound heterozygosity for mutations in ASPM has been reported yet. In this large MCPH study we ascertained 37 families including 319 persons (140 patients). Haplotype analysis of eight STS markers suggested linkage by homozygosity in 20 families, and re‐analysis of single sib ships in the remaining families demonstrated possible compound heterozygosity in two families. Direct sequencing indeed confirmed compound heterozygosity in two and homozygous mutations in 20 families, respectively, showing that up to 10% of families with MCPH caused by ASPM are compound heterozygous. In total we identified 16 different nonsense or frameshift mutations of which 12 were novel thereby increasing the number of mutations in ASPM significantly from 35 to 47. We found no correlation between the severity of the condition and the site of truncation. We suggest that the high frequency of compound heterozygosity observed in this study is taken into consideration as part of future genetic testing and counseling in Pakistani MCPH families. © 2009 Wiley‐Liss, Inc.
Constitutional trisomy 8 and Behçet syndrome
Authors: Becker Kristin , FitzGerald Oliver , Green Andrew J , Keogan Mary , Newbury‐Ecob Ruth , Greenhalgh Lynn , Withers Stephen , Hollox Edward J. , Aldred Patricia M.R. , Armour John A.L.
Published: April 2009

The characteristic clinical features of constitutional trisomy 8 include varying degrees of developmental delay, joint contractures and deep palmar and plantar creases. There is an established literature, which describes features of Behçet syndrome occurring in phenotypically normal individuals with myelodysplastic syndromes and trisomy 8 in their bone marrow. In this article, we describe four patients with constitutional trisomy 8, all with varying clinical phenotypes, who developed features of Behçet, in particular but not exclusively mucocutaneous ulceration. In addition, we examined gene copy numbers of the variable‐number neutrophil defensin genes DEFA1A3 in one of the cases (case 1) and her parents, together with 14 cases of Behçet syndrome in comparison with 121 normal controls. The gene copy number was highest in case 1 (copy number 14) and was also increased in her parents (both copy number 9). However the mean copy number for DEFA1A3 among the 14 Behçet syndrome patients was actually lower (5.1) than among the controls (mean of 6.8 copies). Thus, we conclude that patients with constitutional trisomy 8 and those with trisomy 8 confined to the bone marrow are both at increased risk of developing features of Behçet syndrome. The mechanism may relate to increased chromosome 8 gene dosage with further analysis of candidate genes on chromosome 8 required. © 2009 Wiley‐Liss, Inc.
International Research Symposium on Ankyloblepharon‐Ectodermal Defects‐Cleft Lip/Palate (AEC) Syndrome
Authors: Fete Mary , vanBokhoven Hans , Clements Suzanne E. , McKeon Frank , Roop Dennis R. , Koster Maranke I. , Missero Caterina , Attardi Laura D. , Lombillo Vivian A. , Ratovitski Edward , Julapalli Meena , Ruths Derek , Sybert Virginia P. , Siegfried Elaine C. , Bree Alanna F.
Published: April 2009

Ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome (Hay–Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the TP63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development. It is also known that mutations in TP63 lead to skin erosions. These erosions, especially on the scalp, are defining features of AEC syndrome and cause significant morbidity and mortality in these patients. It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference laid the groundwork for the International Research Symposium for AEC Syndrome held at Texas Children's Hospital in 2006. The conference brought together the largest cohort of individuals with AEC syndrome, along with a multitude of physicians and scientists. The overarching goals were to define the clinical and pathologic findings for improved diagnostic criteria, to obtain tissue samples for further study and to define future research directions. The symposium was successful in accomplishing these aims as detailed in this conference report. Following our report, we also present 11 manuscripts within this special section that outline the collective clinical, pathologic, and mutational data from 18 individuals enrolled in the concurrent Baylor College of Medicine IRB‐approved protocol: Characterization of AEC syndrome. These collaborative findings will hopefully provide a stepping‐stone to future translational projects of TP63 and TP63‐related syndromes. © 2009 Wiley‐Liss, Inc.
Vertebral fusion in a patient with supernumerary‐der(22)t(11;22) syndrome
Authors: Toyoshima Mitsuo , Yonee Chihiro , Maegaki Yoshihiro , Yamamoto Toshiyuki , Shimojima Keiko , Maruyama Shinsuke , Kawano Yoshifumi
Published: April 2009

A patient with a 47,XX,+der(22)t(11;22)(q23.3;q11.2) karyotype exhibited brisk tendon reflex and Babinski sign with suggested pyramidal sign. A three‐dimensional computed tomographic reconstruction revealed a T1‐T2 vertebral fusion without hemivertebrae. Sagittal magnetic resonance imaging revealed degenerative disk changes, mild disk herniation, and mild spinal cord compression. Congenital vertebral fusion may be one of the anomalies in supernumerary‐der(22)t(11;22) syndrome. Once clinical diagnosis of this chromosome aberration is established, radiologic evaluation of vertebrae and spinal neuroimaging should be performed. © 2009 Wiley‐Liss, Inc.
Aortic root dilation in patients with 22q11.2 deletion syndrome
Authors: John Anitha S. , McDonald‐McGinn Donna M. , Zackai Elaine H. , Goldmuntz Elizabeth
Published: April 2009

The 22q11.2 deletion syndrome is characterized by a highly variable phenotype including a range of cardiac malformations. The most common cardiovascular features include a subset of conotruncal defects, perimembranous ventricular septal defects and aortic arch anomalies. This report describes a series of patients with 22q11.2 deletion syndrome with the novel cardiac finding of mild aortic root dilation. A chart review was performed on 93 patients with documented 22q11.2 deletion without significant congenital heart disease to determine the number of patients with aortic root dilation. Patients ranged in age from 1 to 13 years of age. Of these 93 patients, 10 patients were found to have aortic root dilation on a screening echocardiogram. Seven of these patients did not have any additional risk factors while three patients had a bicuspid aortic valve (BAV). Four of 10 patients had additional minor cardiac anomalies including repaired ventricular septal defect (1), patent ductus arteriosus(1), arch anomalies (1), and left pulmonary artery stenosis (1). Three patients had isolated cases of aortic root dilation. Interestingly, several of these patients did not have aortic root dilation on their initial echocardiograms. The purpose of this study is to draw attention to a novel cardiac finding in patients with 22q11.2 deletion that may be of clinical importance. Further long‐term study is warranted to assess the need for echocardiographic screening in the 22q11.2 deleted population for aortic root dilation into adolescence and adulthood. © 2009 Wiley‐Liss, Inc.
Further case of Rubinstein–Taybi syndrome due to a deletion in EP300
Authors: Foley Patricia , Bunyan David , Stratton John , Dillon Michelle , Lynch Sally Ann
Published: April 2009

Rubinstein–Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 45–55% of patients showing mutations in the CREB binding protein and a further 3% of patients having mutations in EP300. We report a male child with a deletion of exons 3–8 of the EP300 gene who has RSTS. He has a milder skeletal phenotype, a finding that has been described in other cases with EP300 mutations. The mother suffered from pre‐eclampsia and HELLP syndrome in the pregnancy. She subsequently developed a mullerian tumor of her cervix 6 years after the birth of her son. © 2009 Wiley‐Liss, Inc.
A novel SIX3 mutation segregates with holoprosencephaly in a large family
Authors: Solomon Benjamin D. , Lacbawan Felicitas , Jain Mahim , Domené Sabina , Roessler Erich , Moore Cynthia , Dobyns William B. , Muenke Maximilian
Published: April 2009

Holoprosencephaly is the most common structural malformation of the forebrain in humans and has a complex etiology including chromosomal aberrations, single gene mutations and environmental components. Here we present the pertinent clinical findings among members of an unusually large kindred ascertained over 15 years ago following the evaluation and subsequent genetic work‐up of a female infant with congenital anomalies. A genome‐wide scan and linkage analysis showed only suggestive evidence of linkage to markers on chromosome 2 among the most likely of several pedigree interpretations. We now report that a novel missense mutation in the SIX3 holoprosencephaly gene is the likely cause in this family. Molecular genetic analysis and/or clinical characterization now show that at least 15 members of this family are presumed SIX3 mutation gene carriers, with clinical manifestations ranging from phenotypically normal adults (non‐penetrance) to alobar holoprosencephaly incompatible with postnatal life. This particular family represents a seminal example of the variable manifestations of gene mutations in holoprosencephaly and difficulties encountered in their elucidation. Published 2009 Wiley‐Liss, Inc.