bluuebunny/crossref_metadata_2025 huggingface dataset:
Acceso solar a las edificaciones. El eslabón pendiente en la legislación urbanística chilena sobre la actividad proyectual
Authors: Cárdenas Luz Alicia , Uribe Araya Paula
Published: January 2014

Hoy en día las demandas energéticas y la búsqueda de fuentes renovables no contaminantes, tales como las Energías Renovables No Convencionales ERNC, son cada vez más acuciantes en el mundo. Entre ellas está la energía solar, cuya captación adquiere una importancia crucial en el medio urbano, debido a obstrucciones provenientes de las morfologías resultantes de la dinámica inmobiliaria. No obstante, se plantea que la vinculación entre morfología urbana y captación solar por edificaciones para sistemas activos, no ha sido abordada en el medio nacional. El objetivo de este artículo es reflexionar respecto a un concepto clave en estas materias: el acceso solar, porque se transforma en un bien muy preciado y necesario resguardar para el bien común. El enfoque adoptado analiza dos marcos normativos convergentes a la actividad proyectual energética solar: la Ordenanza General de Urbanismo y Construcciones (OGUC)) y la Ley del Net Metering (NM). Se analiza la aplicación de la normativa OGUC en un caso hipotético, sus implicancias en las sombras arrojadas sobre edificaciones, predios y espacios públicos. El resultado final es la contextualización espacial de un problema detectado entre forma urbana y energía solar, conducente a develar un eslabón pendiente en la normativa chilena sobre actividad proyectual.
Factors Influencing Involvement in Nonfarm Income Generating Activities Among Local Farmers: The Case of Ughelli South Local Government Area of Delta State, Nigeria
Authors: Ovwigho Bishop O.
Published: January 2014

The study investigated the factors influencing the involvement of farm families in non farm income generating activities. Multi — stage and stratified simple random sampling procedures were used to compose the sample. The sample was made up of seventy two (72) heads of rural farm families. Data were collected by use of structured interview schedule and Focus Group Discussion. Data were analysed by simple percentage, Chi square test, multiple regression and correlation There was a significant relationship between number of non farm income generating activities and demographic characteristics (R2 = 0.870). Farm size (t = -2.386; p = 0.020), level of education (t = -4.227; p = 0.00), and household size (t = 5.404; p = 0.00) were significant and constant predictors of number of non farm income generating activities engaged in by the farm families. A significant relationship was found between involvement in non farm income generating activities and soil degradation due to infertility (X2 = 23.66, p < 0.01) and oil spillage (X2 = 26.01, p < 0.01). The study established a linear relationship between number of income generating activities and demographic characteristics. Extension workers should take into cognisance all rural income generating activities engaged in by the farm families when embarking on services and programmes aimed at improving their welfare.
Optimal Range of Parameters of Hopfield’s Neural Network for Shortest Path Computation in Routing
Authors: Sarwar Farah , Iqbal Shaukat
Published: January 2014

This presentation provides a mathematical survey of parameters used to adjust weights in Hopfield neural network (HNN). These parameter values are used to adjust the rate of convergence, optimality ratio, and precision of the network for a given problem. Optimal shortest routing path computation is discussed here as one of the optimization problems. A detailed analysis of one such energy function is carried out by varying the parameter values one by one in different ranges. A comprehensive conclusion is presented here about the proper criterion for selecting the values of these effectual parameters.
Translating Political Metaphors: Conflict Potential of zenci [negro] in Turkish-English
Authors: Bulut Alev
Published: January 2014

Political metaphors are expressed by lexical items with political content. Their transfer into other languages as part of political texts involves a potential of conflict due to their political and ideological load. Political interviews that are published through interpretation may be used to exemplify how transfer of source metaphors involve conflict depending on the translational decisions. This article focuses on the transfer of a political metaphor in an interpreter-mediated political interview as a source of potential conflict. The article first presents the concept of ideology in translation and markers of ideology in relation to political correctness and conflict as ideological aspects of political translation. It then focuses on zenci [negro/nigger] in Turkish as a political metaphor in transfer into English. The background for and the analysis of the sample metaphor in source and target languages, as well as the conclusions driven out of this case, aim to set the grounds for future discussions of similar cases in Turkish-English political translation.
La visibilité de la traduction au Canada en journalisme politique : mythe ou réalité ?
Authors: Gagnon Chantal
Published: January 2014

Abondamment traité en traductologie littéraire, le thème de la visibilité l’est de plus en plus dans le cadre des études qui portent sur la traduction journalistique. Le présent article pose la question suivante : en contexte canadien, lorsqu’il est question de politique locale, les journalistes exposent-ils le statut des textes qu’ils commentent ? En d’autres termes, lorsque les Canadiens lisent leurs quotidiens, sont-ils explicitement exposés au phénomène de la traduction ? Le corpus qui alimente l’analyse est constitué d’articles de journaux rédigés lors de crises nationales, au lendemain d’allocutions importantes prononcées par des dirigeants politiques canadiens, entre 1942 et 1995. Les résultats de l’étude montrent que la visibilité de la traduction n’est pas complètement effacée des textes journalistiques canadiens, contrairement à ce que l’on observe dans les textes journalistiques issus des agences de presse à l’échelle mondiale.
El lenguaje de las revistas femeninas españolas: la (no) traducción como ideología
Authors: Vidal Claramonte M. Carmen África
Published: January 2014

Le langage est un phénomène typiquement humain : c’est principalement pour cette raison qu’il est associé au pouvoir. Lié à la vie par son essence, il est un phénomène par lequel il nous est donné de grandir, d’établir des relations interpersonnelles, de négocier, d’aimer et de haïr. Le langage et l’utilisation que nous en faisons sont particulièrement intéressants à une époque comme la nôtre, caractérisée par la globalisation et la prolifération de discours prônant l’homogénéisation. L’objectif du présent article est d’analyser les particularités langagières des traductions de textes du domaine de la mode et de la commercialisation de produits dans des revues féminines en espagnol. Dans ce type de texte, on remarque que bon nombre de mots anglais ou français demeurent intraduits. Or, en réalité, ces mots intraduits sont déjà des traductions, car le fait de les lire en anglais ou en français suscite chez le lectorat des réactions particulières qu’il n’aurait pas éprouvées si ces mots avaient été traduits, en castillan dans ce cas.
Precision improvement of the current multiplier based on the quantum current-mirror effect
Authors: Takeda Kouichi , Ishida Chihiro , Gandrothula Srinivas , Mizugaki Yoshinao , Shimada Hiroshi
Published: January 2014

The relationship between the coupling strength and the uncertainty in current duplication was investigated for the quantum current-mirror effect in capacitively coupled arrays of small Josephson junctions. With the increase in the coupling factor κ, defined as

, with C
c being the coupling capacitance and C the capacitance of the junction, the uncertainty decreased rapidly, especially at

, and the standard deviation of the error reached as low as the order of 10 fA at

. On this basis, we fabricated a 10-fold current multiplier composed of 11 simple arrays of junctions coupled more strongly (

), using a plate-capacitor structure, than a previously studied multiplier (

). It demonstrated more precise current-multiplication behavior than the previous multiplier with no intentional coupling structure, and the standard deviation of the error in current multiplication was decreased to less than 1/10 of the previous result.
Microfibrillated Cellulose
Authors: Lindström Tom , Aulin Christian , Naderi Ali , Ankerfors Mikael
Published: January 2014

Over the past decade, interest in nanoscale materials, especially from renewable sources, has increased greatly. Microfibrillated cellulose (MFC), also known as nanocellulose or nanofibrillated cellulose, has long been regarded as an exciting material. MFC is produced from renewable sources and has attractive physicomechanical properties, making it a promising replacement for synthetic materials in numerous key applications. Potential applications range from paper and board applications (e.g., as a dry strengthening agent and surface coating), food applications, emulsion/dispersion applications, composite material strengthening, and hygienic/medical/cosmetic/pharmaceutical applications, to flexible electronic applications.

Impediments to the commercial exploitation of MFC have been the high energy consumption during its manufacture and its complex gel rheology and high viscosity at low consistencies.

The first focus of this chapter is various pretreatments of cellulosic fibers to reduce the high energy consumption when communiting fibers to make MFC. The second focus is the characteristics of MFC materials, with an emphasis on the complex rheology of MFC materials, the theoretical foundations of which are not yet clear. The third focus is the mechanical and barrier properties (i.e., oxygen and water vapor permeability) of MFC films. Finally, some broad application fields of MFC are summarized.
Observational constraints on the distribution, seasonality, and environmental predictors of North American boreal methane emissions
Authors: Miller Scot M. , Worthy Doug E. J. , Michalak Anna M. , Wofsy Steven C. , Kort Eric A. , Havice Talya C. , Andrews Arlyn E. , Dlugokencky Edward J. , Kaplan Jed O. , Levi Patricia J. , Tian Hanqin , Zhang Bowen
Published: January 2014

Wetlands comprise the single largest global source of atmospheric methane, but current flux estimates disagree in both magnitude and distribution at the continental scale. This study uses atmospheric methane observations over North America from 2007 to 2008 and a geostatistical inverse model to improve understanding of Canadian methane fluxes and associated biogeochemical models. The results bridge an existing gap between traditional top‐down, inversion studies, which typically emphasize total emission budgets, and biogeochemical models, which usually emphasize environmental processes. The conclusions of this study are threefold. First, the most complete process‐based methane models do not always describe available atmospheric methane observations better than simple models. In this study, a relatively simple model of wetland distribution, soil moisture, and soil temperature outperformed more complex model formulations. Second, we find that wetland methane fluxes have a broader spatial distribution across western Canada and into the northern U.S. than represented in existing flux models. Finally, we calculate total methane budgets for Canada and for the Hudson Bay Lowlands, a large wetland region (50–60°N, 75–96°W). Over these lowlands, we find total methane fluxes of 1.8±0.24 Tg C yr−1, a number in the midrange of previous estimates. Our total Canadian methane budget of 16.0±1.2 Tg C yr−1 is larger than existing inventories, primarily due to high anthropogenic emissions in Alberta. However, methane observations are sparse in western Canada, and additional measurements over Alberta will constrain anthropogenic sources in that province with greater confidence.
Seasonal to interannual Arctic sea ice predictability in current global climate models
Authors: Tietsche S. , Day J. J. , Guemas V. , Hurlin W. J. , Keeley S. P. E. , Matei D. , Msadek R. , Collins M. , Hawkins E.
Published: January 2014

We establish the first intermodel comparison of seasonal to interannual predictability of present‐day Arctic climate by performing coordinated sets of idealized ensemble predictions with four state‐of‐the‐art global climate models. For Arctic sea ice extent and volume, there is potential predictive skill for lead times of up to 3 years, and potential prediction errors have similar growth rates and magnitudes across the models. Spatial patterns of potential prediction errors differ substantially between the models, but some features are robust. Sea ice concentration errors are largest in the marginal ice zone, and in winter they are almost zero away from the ice edge. Sea ice thickness errors are amplified along the coasts of the Arctic Ocean, an effect that is dominated by sea ice advection. These results give an upper bound on the ability of current global climate models to predict important aspects of Arctic climate.
Regional synchrony of temperature variation and internal wave forcing along the Florida Keys reef tract
Authors: Leichter James J. , Stokes M. Dale , Vilchis L. Ignacio , Fiechter Jerome
Published: January 2014

Analysis of 10 year temperature records collected along the Florida Keys reef tract (FLKRT) reveals strong, regional‐scale synchrony in high‐frequency temperature variation suggestive of internal wave forcing at predominately semidiurnal frequencies. In each year and at all sites, the amplitude of semidiurnal temperature variation was greatest from March to September, and markedly lower from October to February. Comparisons of the semidiurnal component of the temperature variation among sites suggest complex patterns in the arrival of internal waves, with highest cross correlation among closely spaced sites and synchrony in periods of enhanced internal wave activity across the length of the FLKRT, particularly in summer. The periods of enhanced semidiurnal temperature variation at the 20 and 30 m isobaths on the reef slopes appear to be associated with the dynamics of the Florida Current and the onshore movement of warm fronts preceding the passage of Florida Current frontal eddies. Regional‐scale satellite altimetry observations suggest temporal linkages to sea surface height anomalies in the Loop Current (upstream of the Florida Current) and setup of the Tortugas Gyre. The synchronized forcing of cool water onto the reef slope sites across the FLKRT is likely to affect physiological responses to temperature variation in corals and other ectothermic organisms, as well as larval transport and nutrient dynamics with the potential for regionally coherent pulses of larvae and nutrients arriving on reef slopes across the FLKRT.
Overview of the SHARP campaign: Motivation, design, and major outcomes
Authors: Olaguer Eduardo P. , Kolb Charles E. , Lefer Barry , Rappenglück Bernhard , Zhang Renyi , Pinto Joseph P.
Published: January 2014

The Study of Houston Atmospheric Radical Precursors (SHARP) was a field campaign developed by the Houston Advanced Research Center on behalf of the Texas Environmental Research Consortium. SHARP capitalized on previous research associated with the Second Texas Air Quality Study and the development of the State Implementation Plan (SIP) for the Houston‐Galveston‐Brazoria (HGB) ozone nonattainment area. These earlier studies pointed to an apparent deficit in ozone production in the SIP attainment demonstration model despite the enhancement of simulated emissions of highly reactive volatile organic compounds in accordance with the findings of the original Texas Air Quality Study in 2000. The scientific hypothesis underlying the SHARP campaign was that there are significant undercounted primary and secondary sources of the radical precursors, formaldehyde, and nitrous acid, in both heavily industrialized and more typical urban areas of Houston. These sources, if properly taken into account, could increase the production of ozone in the SIP model and the simulated efficacy of control strategies designed to bring the HGB area into ozone attainment. This overview summarizes the precursor studies and motivations behind SHARP, as well as the overall experimental design and major findings of the 2009 field campaign. These findings include significant combustion sources of formaldehyde at levels greater than accounted for in current point source emission inventories; the underestimation of formaldehyde and nitrous acid emissions, as well as CO/NOx and NO2/NOx ratios, by mobile source models; and the enhancement of nitrous acid by atmospheric organic aerosol.
How climate seasonality modifies drought duration and deficit
Authors: Van Loon A. F. , Tijdeman E. , Wanders N. , Van Lanen H. A. J. , Teuling A. J. , Uijlenhoet R.
Published: January 2014

Drought propagation through the terrestrial hydrological cycle is associated with a change in drought characteristics (duration and deficit), moving from precipitation via soil moisture to discharge. Here we investigate climate controls on drought propagation with a modeling experiment in 1271 virtual catchments that differ only in climate type. For these virtual catchments we studied the bivariate distribution of drought duration and standardized deficit for the variables precipitation, soil moisture, and discharge. We found that for meteorological drought (below‐normal precipitation), the bivariate distributions of drought characteristics have a linear shape in all climates and are thus not affected by seasonality in climate. Despite the linear shape of meteorological drought, soil moisture drought (below‐normal storage in the unsaturated zone) and hydrological drought (below‐normal water availability in aquifers, lakes, and/or streams) show strongly nonlinear shapes in drought characteristics in climates with a pronounced seasonal cycle in precipitation and/or temperature. These seasonality effects on drought propagation are found in monsoonal, savannah, and Mediterranean climate zones. In these regions, both soil moisture and discharge show deviating shapes in drought characteristics. The effect of seasonality on drought propagation is even stronger in cold seasonal climates (i.e., at high latitudes and altitudes), where snow accumulation during winter prevents recovery from summer hydrological drought, and deficit increases strongly with duration. This has important implications for water resources management in seasonal climates, which cannot solely rely on meteorology‐based indices as proxies for hydrological drought duration and deficit and need to include seasonal variation in both precipitation and temperature in hydrological drought forecasting.
Study on the changes in the East Asian precipitation in the mid‐1990s using a high‐resolution global downscaled atmospheric data set
Authors: Chang Eun‐Chul , Yeh Sang‐Wook , Hong Song‐You , Kim Jung‐Eun , Wu Renguang , Yoshimura Kei
Published: January 2014

A high‐resolution global atmospheric data set (DA126) is used to understand the East Asian summer precipitation variability. It is found that a fine resolution of the DA126 precipitation data is able to reveal the detailed structures of the rainfall variability over East Asia and southern China in comparison with global analysis precipitation data sets such as the Climate Prediction Center Merged Analysis of Precipitation (CMAP). The first two empirical orthogonal functions (EOFs) of the DA126 precipitation data over East Asia accurately reflect a decadal shift in rainfall over southern China in the mid‐1990s. Furthermore, the first EOF‐related precipitation of the DA126 is related to the tropical Pacific sea surface temperature (SST) variability (i.e., El Niño/Southern Oscillation), and the second EOF‐related precipitation is associated with the Indian Ocean SST variability. Consequently, the tropical Pacific and the Indian Ocean SSTs have different associations with the East Asian monsoon precipitation variability. However, it is difficult to find such a relationship in the first two EOFs of the CMAP data set over East Asia. Using the DA126 precipitation data set, our further analysis indicates that warming of both the tropical Pacific and the Indian Ocean causes an increase in the rainfall anomaly over southern China after the mid‐1990s, which results in a decadal shift in the rainfall anomaly after the mid‐1990s. In addition, the first EOF‐related precipitation is associated with both the Pacific‐Japan‐like (PJ‐like) pattern and the Eurasian‐like pattern. In contrast, the second EOF‐related precipitation is only associated with the PJ‐like wave trains from the western Pacific to East Asia.
Molecular Packing‐Induced Transition between Ambipolar and Unipolar Behavior in Dithiophene‐4,9‐dione‐Containing Organic Semiconductors
Authors: Xu Huan , Zhou Ye‐Cheng , Zhou Xing‐Yu , Liu Ke , Cao Lu‐Ya , Ai Yong , Fan Zhi‐Ping , Zhang Hao‐Li
Published: January 2014

By changing the packing motif of the conjugated cores and the thin‐film microstructures, unipolar organic semiconductors may be converted into ambipolar materials. A combined experimental and theoretical investigation is conducted on the thin‐film organic field‐effect transistors (OFETs) of three organic semiconductors that have the same conjugated core structure of s‐indaceno[1,2‐b:5,6‐b′]dithiophene‐4,9‐dione but with different n‐alkyl groups. The optical and electrochemical measurements suggest that the three organic semiconductors have very similar energy levels; however, their OFETs exhibit dramatically different transport characteristics. Transistors based on compound 1a or 1c show ambipolar transport properties, while those based on compound 1b show p‐type unipolar behavior. Specifically, compound 1c is characterized as a good ambipolar semiconductor with the highest electron mobility of 0.22 cm2 V−1 s−1 and the highest hole mobility of 0.03 cm2 V−1 s−1. Complementary metal oxide semiconductor (CMOS) inverters incorporated with compound 1c show sharp inversions with high gains above 50. Theoretical investigations reveal that the drastic difference in the transport properties of the three materials is due to the difference in their molecular packing and film microstructures.
Graph reduction of complex energy‐integrated networks: Process systems applications
Authors: Heo Seongmin , Rangarajan Srinivas , Daoutidis Prodromos , Jogwar Sujit S.
Published: January 2014

We illustrate the application of a graph reduction method developed recently to analyze complex energy‐integrated process networks. The method uses information on the energy flow structure of the network and the orders of magnitude of the different energy flows to generate, automatically, information on the time scales where the process units evolve, canonical forms of the reduced models in each time scale, and controlled variables and potential manipulated inputs available in each time scale. Representative examples of reactor‐heat exchanger and distillation column networks are considered to illustrate the method and develop insights on effective control strategies for these processes. © 2014 American Institute of Chemical Engineers AIChE J, 60: 995–1012, 2014
Simulations of solid–liquid scalar transfer for a spherical particle in laminar and turbulent flow
Authors: Derksen J. J.
Published: January 2014

Scalar transfer from a solid sphere to a surrounding liquid has been studied numerically. The simulation procedure involves full hydrodynamic resolution of the solid–liquid interaction and the flow (laminar and turbulent) of the carrier fluid by means of the lattice‐Boltzmann method. Scalar transport is solved with a finite volume method on coupled overlapping domains (COD): an outer domain discretized with a cubic grid and a shell around the solid sphere with a spherical grid with fine spacing in the radial direction. The shell is needed given the thin scalar boundary layer around the sphere that is the result of high Schmidt numbers (up to Sc = 1000). After assessing the COD approach for laminar benchmark cases, it is applied to a sphere moving through homogeneous isotropic turbulence with the sphere radius larger (by typically a factor of 10) than the Kolmogorov length scale so that it experiences an inhomogeneous hydrodynamic environment. This translates in pronounced scalar concentration variations and transfer rates over the sphere's surface. Overall scalar‐transfer coefficients are compared to those derived from classical Sherwood number correlations. © 2014 American Institute of Chemical EngineersAIChE J, 60: 1202–1215, 2014
Multiobjective optimization under uncertainty of the economic and life‐cycle environmental performance of industrial processes
Authors: Sabio Nagore , Pozo Carlos , Guillén‐Gosálbez Gonzalo , Jiménez Laureano , Karuppiah Ramkumar , Vasudevan Venkatesh , Sawaya Nicolas , Farrell John T.
Published: January 2014

The combined use of multiobjective optimization and life‐cycle assessment (LCA) has recently emerged as a useful tool for minimizing the environmental impact of industrial processes. The main limitation of this approach is that it requires large amounts of data that are typically affected by several uncertainty sources. We propose herein a systematic framework to handle these uncertainties that takes advantage of recent advances made in modeling of uncertain LCA data and in optimization under uncertainty. Our strategy is based on a stochastic, multiobjective, and multiscenario mixed‐integer nonlinear programming approach in which the uncertain parameters are described via scenarios. We investigate the use of two stochastic metrics: (1) the environmental impact in the worst case and (2) the environmental downside risk. We demonstrate the capabilities of our approach through its application to a generic complex industrial network in which we consider the uncertainty of some key life‐cycle inventory parameters. © 2014 American Institute of Chemical Engineers AIChE J, 60: 2098–2121, 2014
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson–Golabi–Behmel syndrome and germline GPC3 mutation
Authors: Kosaki Rika , Takenouchi Toshiki , Takeda Noriko , Kagami Masayo , Nakabayashi Kazuhiko , Hata Kenichiro , Kosaki Kenjiro
Published: January 2014

Simpson–Golabi–Behmel syndrome is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Although this syndrome is known to be associated with a risk for embryonal tumors, similar to other overgrowth syndromes, the pathogenetic basis of this mode of tumorigenesis remains largely unknown. Here, we report a boy with Simpson‐Golabi–Behmel syndrome who had a germline loss‐of function mutation in GPC3. At 9 months of age, he developed hepatoblastoma. A comparison of exome analysis results for the germline genome and for the tumor genome revealed a somatic mutation, p.Ile35Ser, within the degradation targeting box of β‐catenin. The same somatic mutation in CTNNB1 has been repeatedly reported in hepatoblastoma and other cancers. This finding suggested that the CTNNB1 mutation in the tumor tissue represents a driver mutation and that both the GPC3 and the CTNNB1 mutations contributed to tumorigenesis in a clearly defined sequential manner in the propositus. The current observation of a somatic CTNNB1 mutation in a hepatoblastoma from a patient with a germline GPC3 mutation supports the notion that the mutation in GPC3 may influence one of the initial steps in tumorigenesis and the progression to hepatoblastoma. © 2014 Wiley Periodicals, Inc.
An unusual phenotype of X‐linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene
Authors: Hartill Verity L. , Tysoe Carolyn , Manning Nigel , Dobbie Angus , Santra Saikat , Walter John , Caswell Richard , Koster Janet , Waterham Hans , Hobson Emma
Published: January 2014

We report on a family in which four males over three generations are affected with X‐linked recessive developmental delay, learning difficulties, severe behavioral difficulties and mild dysmorphic features. Plasma sterol analysis in three of the four affected males demonstrated increased concentrations of 8‐dehydrocholesterol (8‐DHC) and cholest‐8(9)‐enol. All four affected males had a novel hemizygous missense mutation, p.W47R (c.139T>C), in EBP. Functional studies showed raised levels of cholest‐8(9)‐enol in patient's cultured fibroblast cells, which were suppressed when the cells were incubated with simvastatin. EBP encodes 3β‐hydroxysteroid‐delta8, delta7‐isomerase, a key enzyme involved in the cholesterol biosynthesis pathway. Mutations in EBP have previously been associated with Conradi–Hunermann–Happle syndrome (CHH), an X‐linked dominant disorder characterized by skeletal dysplasia, skin, and ocular abnormalities, which is usually lethal in males. Four previous reports describe X‐linked recessive multiple anomaly syndromes associated with non‐mosaic EBP mutations in males, two at the same amino acid position, p.W47C. This phenotype has previously been described as “MEND” syndrome (male EBP disorder with neurological defects). The family reported herein represent either a novel phenotype, or an expansion of the MEND phenotype, characterized by extreme behavioral difficulties and a scarcity of structural anomalies. Simvastatin therapy is being evaluated in two males from this family. © 2014 Wiley Periodicals, Inc.
A vascular and thrombotic model of gastroschisis
Authors: Lubinsky Mark
Published: January 2014

A binary vascular/thrombotic pathogenesis for gastroschisis, a form of congenital bowel herniation, is proposed, where normal right umbilical vein involution creates a possible site for thrombosis adjacent to the umbilical ring. If thrombosis occurs, it weakens the area, explaining overwhelmingly right‐sided lesions. The model arises from the existence of two groups of risk factors with different maternal age associations. Older mothers show a greater association with vascular factors (although this may actually represent a lack of any significant maternal age effect), consistent with associations of gastroschisis with congenital heart lesions and with amyoplasia. Alternatively, other predispositions, and especially decreased maternal age, the greatest known risk factor, associate with factors raising maternal estrogen, with evidence that estrogen in turn acts here as a predisposition to thrombosis. Absorption of thrombotic by‐products from the amniotic fluid can explain the unusual amniocyte inclusions that are common with gastroschisis, while a role for estrogens suggests a connection between rising gastroschisis prevalence and increasing environmental contamination with estrogen disruptors. This model explains a variety of structural and epidemiological findings, and suggests that stratification of data based on binary effects may clarify associated risks and mechanisms. The model also shows that what is often referred to as vascular disruption may actually reflect alternative or additional factors instead, including thrombosis as a primary mechanism. © 2014 Wiley Periodicals, Inc.
Duplication at Xq13.3–q21.1 with syndromic intellectual disability, a probable role for the ATRX gene
Authors: Martínez Francisco , Roselló Mónica , Mayo Sonia , Monfort Sandra , Oltra Silvestre , Orellana Carmen
Published: January 2014

Here we report on two unrelated male patients with syndromic intellectual disability (ID) due to duplication at Xq13.3–q21.1, a region of about 6 Mb and 25 genes. Among these, the most outstanding is ATRX, the causative gene of X‐linked alpha‐thalassemia/mental retardation. ATRX belongs to the growing list of genes implied in chromatin remodeling causing ID. Many these genes, such as MECP2, are dose‐sensitive so that not only deletions and point mutations, but also duplications cause ID. Both patients have severe ID, absent expressive speech, early hypotonia, behavior problems (hyperactivity, repetitive self‐stimulatory behavior), postnatal growth deficiency, microcephaly, micrognathia, cryptorchidism, low‐set, posteriorly angulated ears, and downslanting palpebral fissures. These findings are also usually present among patients with loss‐of‐function mutations of the ATRX gene. Completely skewed X inactivation was observed in the only informative carrier mother, a constant finding among female carriers of inactivating point mutations of this gene. Participation of other duplicated genes cannot be excluded; nevertheless we propose that the increased dosage of ATRX is the major pathogenic mechanism of this X‐linked disorder, a syndrome reminiscent of MECP2 duplication. © 2014 Wiley Periodicals, Inc.
A second family with autosomal recessive spondylometaphyseal dysplasia and early death
Authors: Mégarbané André , Mehawej Cybel , Zahr Amir El , Haddad Soha , Cormier‐Daire Valérie
Published: January 2014

We report on a consanguineous Lebanese family in which two sibs had pre‐ and post‐natal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low‐set ears, depressed nasal bridge, short nose, anteverted nares, increased nasal width, prominent abdomen, and short limbs. Radiographs disclosed the presence of wormian bones, platyspondyly, decreased interpedicular distance at the lumbar vertebrae, square iliac bones, horizontal acetabula, trident acetabula, hypoplastic ischia, partial agenesis of the sacrum, ribs with cupped ends, short long bones with abnormal modeling, slight widening of the distal femoral metaphyses, and delayed epiphyseal ossification. Both sibs had a severe cardiomegaly and died at around 24 months from a heart failure. Differential diagnosis suggests that this is a second family presenting a newly described early lethal chondrodysplasia first reported by [Mégarbané et al. (2008); Am J Med Genet Part A 146A:2916–2919]. © 2014 Wiley Periodicals, Inc.
Behavioral Profile in RASopathies
Authors: Alfieri Paolo , Piccini Giorgia , Caciolo Cristina , Perrino Francesca , Gambardella Maria Luigia , Mallardi Maria , Cesarini Laura , Leoni Chiara , Leone Daniela , Fossati Chiara , Selicorni Angelo , Digilio Maria Cristina , Tartaglia Marco , Mercuri Eugenio , Zampino Giuseppe , Vicari Stefano
Published: January 2014

Here, we describe neurobehavioral features in patients with RASopathies (i.e., Noonan syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome), developmental disorders caused by mutations in genes coding transducers participating in the RAS‐MAPK signaling cascade. Parents of 70 individuals with a RASopathy were asked to fill out the following questionnaires: Child Behavior Checklist (CBCL), Social Communication Questionnaire version lifetime (SCQ‐L), and Modified Checklist for Autism in toddlers (M‐CHAT). Data analysis indicated high rates of internalizing (37%) and externalizing problems (31%) on CBCL. Scores over the cut‐off were documented in 64% of patients with cardiofaciocutaneous syndrome, 44% with Costello syndrome, and 12% with Noonan syndrome on SCQ‐L/M‐CHAT. Our findings indicate that mutations promoting dysregulation of the RAS‐MAPK cascade mark an increased psychopathological risk and highlight that autistic‐like behavior could be underdiagnosed in patients with RASopathies. © 2014 Wiley Periodicals, Inc.
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation
Authors: Gargano Giancarlo , Guidotti Isotta , Balestri Eleonora , Vagnarelli Federica , Rosato Simonetta , Comitini Giuseppina , Wischmeijer Anita , La Sala Giovanni Battista , Iughetti Lorenzo , Cordeddu Viviana , Rossi Cesare , Tartaglia Marco , Garavelli Livia
Published: January 2014

Fetal hydrops is a condition resulting from interstitial fluid accumulation in fetal compartments secondary to increased capillary permeability and characterized by high rates of perinatal mortality and morbidity. Clinical features include skin edema, hydrothorax, pericardial effusion, ascites with or without polyhydramnios, and placental edema. While it may occur as associated feature in multiple disorders, it has been documented to recur in Noonan syndrome, the most common disorder among RASopathies, but also in cardiofaciocutaneous and Costello syndromes. Here, we report on the occurrence of severe hydrops in a newborn heterozygous for the invariant c.4A>G missense change in SHOC2 which underlies Noonan‐like syndrome with loose anagen hair, documenting that it represents a clinically relevant complication in this condition, shared by RASopathies. © 2014 Wiley Periodicals, Inc.
An individual with blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B
Authors: Yu Hung‐Chun , Geiger Elizabeth A. , Medne Livija , Zackai Elaine H. , Shaikh Tamim H.
Published: January 2014

Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is an autosomal dominant disorder caused by mutations in FOXL2. We identified an individual with BPES and additional phenotypic features who did not have a FOXL2 mutation. We used whole exome sequencing to identify a de novo mutation in KAT6B (lysine acetyltransferase 6B) in this individual. The mutation was a 2‐bp insertion leading to a frameshift which resulted in a premature stop codon. The resulting truncated protein does not have the C‐terminal serine/methionine transcription activation domain necessary for interaction with other transcriptional and epigenetic regulators. This mutation likely has a dominant‐negative or gain‐of‐function effect, similar to those observed in other genetic disorders resulting from KAT6B mutations, including Say–Barber–Biesecker–Young–Simpson (SBBYSS) and genitopatellar syndrome (GTPTS). Thus, our subject's phenotype broadens the spectrum of clinical findings associated with mutations in KAT6B. Furthermore, our results suggest that individuals with BPES without a FOXL2 mutation should be tested for KAT6B mutations. The transcriptional and epigenetic regulation mediated by KAT6B appears crucial to early developmental processes, which when perturbed can lead to a wide spectrum of phenotypic outcomes. © 2014 Wiley Periodicals, Inc.
MECP2duplication: Possible cause of severe phenotype in females
Authors: Scott Schwoerer Jessica , Laffin Jennifer , Haun Joanne , Raca Gordana , Friez Michael J. , Giampietro Philip F.
Published: January 2014

MECP2 duplication syndrome, originally described in 2005, is an X‐linked neurodevelopmental disorder comprising infantile hypotonia, severe to profound intellectual disability, autism or autistic‐like features, spasticity, along with a variety of additional features that are not always clinically apparent. The syndrome is due to a duplication (or triplication) of the gene methyl CpG binding protein 2 (MECP2). To date, the disorder has been described almost exclusively in males. Female carriers of the duplication are thought to have no or mild phenotypic features. Recently, a phenotype for females began emerging. We describe a family with ∼290 kb duplication of Xq28 region that includes theMECP2gene where the proposita and affected family members are female. Twin sisters, presumed identical, presented early with developmental delay, and seizures. Evaluation of the proposita at 25 years of age included microarray comparative genomic hybridization (aCGH) which revealed theMECP2gene duplication. The same duplication was found in the proposita's sister, who is more severely affected, and the proband's mother who has mild intellectual disability and depression. X‐chromosome inactivation studies showed significant skewing in the mother, but was uninformative in the twin sisters. We propose that theMECP2duplication caused for the phenotype of the proband and her sister. These findings support evidence for varied severity in some females withMECP2duplications. © 2014 Wiley Periodicals, Inc.
Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis
Authors: Weaver K. Nicole , El Hallek Moussa , Hopkin Robert J. , Sund Kristen L. , Henrickson Michael , del Gaudio Daniela , Yuksel Adnan , Acar Gül Ozbilen , Bober Michael B. , Kim Jinoh , Boyadjiev Simeon A.
Published: January 2014

Keutel syndrome is a rare, autosomal recessive disorder characterized by diffuse cartilage calcification, peripheral pulmonary artery stenosis, midface retrusion, and short distal phalanges. To date, 28 patients from 18 families have been reported, and five mutations in the matrix Gla protein gene (MGP) have been identified. The matrix Gla protein (MGP) is a vitamin K‐dependent extracellular protein that functions as a calcification inhibitor through incompletely understood mechanisms. We present the clinical manifestations of three affected siblings from a consanguineous Turkish family, in whom we detected the sixth MGP mutation (c.79G>T, which predicts p.E27X) and a fourth unrelated patient in whom we detected the seventh MGP mutation, a partial deletion of exon 4. Both mutations predict complete loss of MGP function. One of the patients presented initially with a working diagnosis of relapsing polychondritis. Clinical features suggestive of Keutel syndrome were also observed in one additional unrelated patient who was later found to have a deletion of arylsulfatase E, consistent with a diagnosis of X‐linked recessive chondrodysplasia punctata. Through a discussion of these cases, we highlight the clinical overlap of Keutel syndrome, X‐linked chondrodysplasia punctata, and the inflammatory disease relapsing polychondritis. © 2014 Wiley Periodicals, Inc.
De novo single exon deletion of AUTS2 in a patient with speech and language disorder: A review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders
Authors: Amarillo Ina E. , Li Wenhui Laura , Li Xinmin , Vilain Eric , Kantarci Sibel
Published: January 2014

The autism susceptibility candidate 2 (AUTS2) gene is suggested to play a critical role in early brain development, and its association with intellectual disability (ID), autism spectrum disorders, and other neurodevelopmental disorders (NDDs) has recently gained more attention. Genomic rearrangements and copy number variations (CNVs) involving AUTS2 have been implicated in a range of NDDs with or without congenital malformations and dysmorphic features. Here we report a 62 kb de novo deletion encompassing exon 6 of AUTS2 detected by chromosomal microarray analysis (CMA) in a 4.5 year‐old female patient with severe speech and language disorder, history of tonic–clonic movements, and pes planus with eversion of the feet. This is one of the smallest de novo intragenic deletions of AUTS2 described in patients with NDDs. We reviewed previously reported small pathogenic CNVs (<300 kb) in 19 cases, and correlated their specific locations within AUTS2 as well as presence of enhancers, regulatory elements, and CpG islands with the clinical findings of these cases and our patient. Our report provides additional insight into the clinical spectrum of AUTS2 disruptions. © 2014 Wiley Periodicals, Inc.
Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses
Authors: Hall Judith G.
Published: January 2014

Of individuals with Amyoplasia, 16.8% (94/560) involve only the upper limbs (Upper Limb Amyoplasia—ULA) and 15.2% (85/560) involve only the lower limbs (Lower Limb Amyoplasia—LLA). The accompanying paper deals with other forms of Amyoplasia [Hall et al., 2013] and discusses etiology. An excess of one of monozygotic (MZ) twins is seen in both groups (ULA 4/94 (4.3%), LLA 5/85 (5.9%)), gastrointestinal (GI) abnormalities thought to be of vascular origin (bowel atresia and gastroschisis) (ULA 16/94 (17%), LLA 4/85 (4.7%)), small or partial absence of digits (ULA 6/94 (6.2%), LLA 8/85 (9.4%)), and umbilical cord wrapping around the limbs at birth (ULA 3/94 (3.2%), LLA 7/85 (8.2%)) (severe enough to leave a permanent groove). Pregnancy complications occurred in 42/60 (70%) of ULA and 36/54 (67%) of LLA. Prenatal diagnosis, after ultrasound usage became routine, occurred in only 7/25 (28%) of ULA and 5/12 (12%) of LLA. This series may represent an over estimate of the complications and associations occurring in ULA and LLA. Differential diagnoses separating LLA from the genetic forms of “lower limb only” arthrogryposis and ULA from “upper limb only” genetic forms of arthrogryposis and Erb's palsy is provided. © 2014 Wiley Periodicals, Inc.
Coarctation of the aorta in Noonan‐like syndrome with loose anagen hair
Authors: Zmolikova Michaela , Puchmajerova Alena , Hecht Petr , Lebl Jan , Trkova Marie , Krepelova Anna
Published: January 2014

Noonan‐like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G inSHOC2predicting p.Ser2Gly has been described recently. This condition is characterized by facial features similar to Noonan syndrome, reduced growth, cardiac defects, and typical abnormal hair. We report on a patient with molecularly confirmed NS/LAH with coarctation of the aorta. The girl was precipitously born at 37 weeks of gestation at home and required a 3‐min resuscitation. Increased nuchal translucency and aortic coarctation with a small ventricular septal defect were described prenatally, hypertrophic cardiomyopathy was detected postnatally. The patient presented with facial dysmorphism typical of NS with redundant skin over the nape and on the back. Short stature, relative macrocephaly, failure‐to‐thrive together with dystrophic appearance, developmental delay mainly in motor milestones and very thin, sparse, slow‐growing hair occurred a few weeks after birth. Endocrine evaluation revealed low IGF‐1 levels and borderline growth hormone deficiency. Growth hormone therapy started at 16 months had a partial effect and prevented further growth deterioration. Coarctation of the aorta is not a typical heart defect among individuals with NS/LAH, therefore our observation extends the phenotypic spectrum of this disorder. © 2014 Wiley Periodicals, Inc.
Fluorometrischer Nachweis von Fluorid in wässriger Lösung mittels Teststreifen und einem BODIPY‐Wasserstoffbrückenrezeptor‐Konjugat
Authors: Ashokkumar Pichandi , Weißhoff Hardy , Kraus Werner , Rurack Knut
Published: January 2014

Die Bestimmung von biologisch relevanten Anionen wie Fluorid ist eine wichtige Aufgabe in der analytischen Chemie, insbesondere im Hinblick auf Zahnpflege und Osteoporose. Es gibt zwar eine große Zahl an Fluoridsonden, ihre Anwendbarkeit unter umweltrelevanten Bedingungen ist aber auf wenige Beispiele beschränkt. Um dieses Ziel zu erreichen, wurden BODIPY‐Amidothioharnstoff‐Farbstoffe mit unterschiedlicher Wasserstoffbrückendonorstärke entwickelt, wovon die H‐azideste Verbindung (1 c) anorganisches F− (aus NaF) in DMSO/H2O (1:1, v/v) mit 0.01 ppm Empfindlichkeit durch Fluoreszenzlöschung über einen photoinduzierten Elektronentransfer nachweisen kann. Einbettung der Sonde und eines Referenzfarbstoffs in einen Teststreifen‐Assay mit einem tragbaren “Lateral‐Flow”‐Fluoreszenzlesegerät ermöglichte die Bestimmung von F− in wässrigen Lösungen wie versetzten Wasserproben und Zahncremeextrakten mit interner Referenzierung bis zu einer Nachweisgrenze von 0.2 ppm.
Unusual Hafnium–Pyridylamido/ERn Heterobimetallic Adducts (ERn=ZnR2 or AlR3)
Authors: Rocchigiani Luca , Busico Vincenzo , Pastore Antonello , Talarico Giovanni , Macchioni Alceo
Published: January 2014

NMR spectroscopy and DFT studies indicate that the Symyx/Dow Hf(IV)–pyridylamido catalytic system for olefin polymerization, [{N−,N,CNph−}HfMe][B(C6F5)4] (1, Nph=naphthyl), interacts with ERn (E=Al or Zn, R=alkyl group) to afford unusual heterobimetallic adducts [{N−,N}HfMe(μ‐CNph)(μ‐R)ERn−1][B(C6F5)4] in which the cyclometalated Nph acts as a bridge between Hf and E. 1H VT (variable‐temperature) EXSY NMR spectroscopy provides direct evidence of reversible alkyl exchanges in heterobimetallic adducts, with ZnR2 showing a higher tendency to participate in this exchange than AlR3. 1‐Hexene/ERn competitive reactions with 1 at 240 K reveal that the formation of adducts is strongly favored over 1‐hexene polymerization. Nevertheless, a slight increase in the temperature (to >265 K) initiates 1‐hexene polymerization.