bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis
Authors: Gripp Karen W. , Zand Dina J. , Demmer Laurie , Anderson Carol E. , Dobyns William B. , Zackai Elaine H. , Denenberg Elizabeth , Jenny Kim , Stabley Deborah L. , Sol‐Church Katia 
Published: August 2013

ABSTRACTNoonan syndrome is a heterogenous rasopathy typically presenting with short stature, characteristic facial features, cardiac abnormalities including pulmonic valve stenosis, ASD and hypertrophic cardiomyopathy (HCM), cryptorchidism, ectodermal abnormalities, and learning differences. The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia. The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair. We report five patients with this mutation. All had skin hyperpigmentation, sparse light colored hair, increased fine wrinkles, ligamentous laxity, developmental delay, and 4/4 had a structural cardiac anomaly. Hypotonia and macrocephaly occurred in 4/5 (80%); 3/5 (60%) had polyhydramnios, increased birth weight or required use of a feeding tube. Distinctive brain abnormalities included relative megalencephaly and enlarged subarachnoid spaces suggestive of benign external hydrocephalus, and a relatively small posterior fossa as indicated by a vertical tentorium. The combination of a large brain with a small posterior fossa likely resulted in the high rate of cerebellar tonsillar ectopia (3/4; 75%). Periventricular nodular heterotopia was seen in one patient with a thick and dysplastic corpus callosum. We report on the first hematologic neoplasm, myelofibrosis, in a 2‐year‐old patient with SHOC2 mutation. Myelofibrosis is exceedingly rare in children and young adults. The absence of a somatic JAK2 mutation, seen in the majority of patients with myelofibrosis, is noteworthy as it suggests that germline or somatic SHOC2 mutations are causally involved in myelofibrosis. © 2013 Wiley Periodicals, Inc.
The archaeology of rock art in Fiji: evidence, methods and hypotheses
Authors: Cruz Berrocal María , Millerstrom Sidsel 
Published: August 2013

AbstractWe present results from four field seasons in Fiji focused on rock art research. We recorded previously noted sites and surveyed particular areas in search of new ones. The results tend to confirm the scarcity of Fijian rock art, as our research has produced a total of 23 sites. Nonetheless, this fact implies some interesting aspects. First, there are at least two different traditions of rock art in Fiji, which we have broadly defined as a Polynesian‐based tradition and a collection of unique cases. In spite of the small size of the sample, the Polynesian‐based tradition shares a series of conventions that allow us to detect patterns. The group of unique cases is formed by particular and unique actions, and is likely later in time. Fiji is an exception in the broader Oceanic context in terms of rock art, since it is generally quite abundant in this area. This discontinuity is used to argue that rock art was probably not an inherited cultural practice carried out by people during the colonisation process but, rather, a relevant activity associated with different historical developments in different archipelagos.
Transient Receptor Potential Ankyrin 1 Receptor Stimulation by Hydrogen Peroxide Is Critical to Trigger Pain During Monosodium Urate–Induced Inflammation in Rodents
Authors: Trevisan Gabriela , Hoffmeister Carin , Rossato Mateus F. , Oliveira Sara M. , Silva Mariane A. , Ineu Rafael P. , Guerra Gustavo P. , Materazzi Serena , Fusi Camilla , Nassini Romina , Geppetti Pierangelo , Ferreira Juliano 
Published: August 2013

ObjectiveGout is a common cause of inflammatory arthritis and is provoked by the accumulation of monosodium urate (MSU) crystals. However, the underlying mechanisms of the pain associated with acute attacks of gout are poorly understood. The aim of this study was to evaluate the role of transient receptor potential ankyrin 1 (TRPA‐1) and TRPA‐1 stimulants, such as H2O2, in a rodent model of MSU‐induced inflammation.MethodsMSU or H2O2 was injected into the hind paws of rodents or applied in cultured sensory neurons, and the intracellular calcium response was measured in vitro. Inflammatory or nociceptive responses in vivo were evaluated using pharmacologic, genetic, or biochemical tools and methods.ResultsTRPA‐1 antagonism, TRPA‐1 gene deletion, or pretreatment of peptidergic TRP‐expressing primary sensory neurons with capsaicin markedly decreased MSU‐induced nociception and edema. In addition to these neurogenic effects, MSU increased H2O2 levels in the injected tissue, an effect that was abolished by the H2O2‐detoxifying enzyme catalase. H2O2, but not MSU, directly stimulated sensory neurons through the activation of TRPA‐1. The nociceptive responses evoked by MSU or H2O2 injection were attenuated by the reducing agent dithiothreitol. In addition, MSU injection increased the expression of TRPA‐1 and TRP vanilloid channel 1 (TRPV‐1) and also enhanced cellular infiltration and interleukin‐1β levels, and these effects were blocked by TRPA‐1 antagonism.ConclusionOur results suggest that MSU injection increases tissue H2O2, thereby stimulating TRPA‐1 on sensory nerve endings to produce inflammation and nociception. TRPV‐1, by a previously unknown mechanism, also contributes to these responses.
Periarticular Bone Loss in Antigen‐Induced Arthritis
Authors: Engdahl Cecilia , Lindholm Catharina , Stubelius Alexandra , Ohlsson Claes , Carlsten Hans , Lagerquist Marie K. 
Published: August 2013

ObjectiveBone loss in arthritis is a complex process characterized by bone erosions and periarticular and generalized bone loss. The antigen‐induced arthritis (AIA) model is mainly used to study synovitis and joint destruction, including bone erosions; however, periarticular bone loss has been less extensively investigated. The objectives of this study were to characterize and establish AIA as a model for periarticular bone loss, and to determine the importance of NADPH oxidase 2 (NOX‐2)–derived reactive oxygen species (ROS) in periarticular bone loss.MethodsArthritis was induced in mice by local injection of antigen in one knee; the other knee was used as a nonarthritis control. At study termination, the knees were collected for histologic assessment. Periarticular bone mineral density (BMD) was investigated by peripheral quantitative computed tomography. Flow cytometric analyses were performed using synovial and bone marrow cells.ResultsAIA resulted in decreased periarticular trabecular BMD and increased frequencies of preosteoclasts, neutrophils, and monocytes in the arthritic synovial tissue. Arthritis induction resulted in an increased capability to produce ROS. However, induction of arthritis in Ncf1*/* mice, which lack NOX‐2–derived ROS, and control mice resulted in similar reductions in periarticular trabecular BMD.ConclusionThe initiation of AIA resulted in periarticular bone loss associated with local effects on inflammatory cells and osteoclasts. Furthermore, based on our observations using this model, we conclude that NOX‐2–derived ROS production is not essential for inflammation‐mediated periarticular bone loss. Thus, AIA can be used as a model to investigate the pathogenesis of local inflammation–mediated bone loss.
The Influence of Skills, Message Frame, and Visual Aids on Prevention of Sexually Transmitted Diseases
Authors: Garcia‐Retamero Rocio , Cokely Edward T. 
Published: August 2013

ABSTRACTIn a large three week longitudinal study, we investigated the efficacy of framed messages for promoting condom use in sexually active young adults. We also investigated the influence of key risk literacy skills (i.e., numeracy and graph literacy) and visual aids (i.e., icon arrays) on the efficacy of framed messages. Finally, we investigated the underlying psychological mechanisms of behavioral change on the ability of icon arrays to improve message effectiveness. Results showed that framed messages including icon arrays increased adherence to self‐reported condom use by giving rise to enduring changes in attitudes and behavioral intentions, which influenced behavior. Icon arrays were found to be most beneficial among young adults with relatively low numeracy as long as they had high graph literacy. These findings build on the previous research in risk communication and extend psychological theories of health‐related decision making such as the theory of planned behavior. These findings also map the conditions under which well‐constructed visual aids can be among the most effective, transparent, and ethically desirable means of risk communication. Implications for risk communication and informed medical decision making are discussed. Copyright © 2013 John Wiley & Sons, Ltd.
Heterogeneity of d‐glucuronyl C5‐epimerase expression and epigenetic regulation in prostate cancer
Authors: Prudnikova Tatiana Y. , Soulitzis Nikolaos , Kutsenko Olesya S. , Mostovich Lyudmila A. , Haraldson Klas , Ernberg Ingemar , Kashuba Vladimir I. , Spandidos Demetrios A. , Zabarovsky Eugene R. , Grigorieva Elvira V. 
Published: August 2013

AbstractHeparansulfate proteoglycans (HSPG) play an important role in cell–cell and cell–matrix interactions and signaling, and one of the key enzymes in heparansulfate biosynthesis is d‐glucuronyl C5‐epimerase (GLCE). A tumor suppressor function has been demonstrated for GLCE in breast and lung carcinogenesis; however, no data are available as to the expression and regulation of the gene in prostate cancer. In this study, decreased GLCE expression was observed in 10% of benign prostate hyperplasia (BPH) tissues and 53% of prostate tumors, and increased GLCE mRNA levels were detected in 49% of BPH tissues and 21% of tumors. Statistical analysis showed a positive correlation between increased GLCE expression and Gleason score, TNM staging, and prostate‐specific antigen (PSA) level in the prostate tumors (Pearson correlation coefficients GLCE/Gleason = 0.56, P < 0.05; GLCE/TNM = 0.62, P < 0.05; and GLCE/PSA = 0.88, P < 0.01), suggesting GLCE as a candidate molecular marker for advanced prostate cancer. Immunohistochemical analysis revealed an intratumoral heterogeneity of GLCE protein levels both in BPH and prostate cancer cells, resulting in a mixed population of GLCE‐expressing and nonexpressing epithelial cells in vivo. A model experiment on normal (PNT2) and prostate cancer (LNCaP, PC3, DU145) cell lines in vitro showed a 1.5‐ to 2.5‐fold difference in GLCE expression levels between the cancer cell lines and an overall decrease in GLCE expression in cancer cells. Methyl‐specific polymerase chain reaction (PCR), bisulfite sequencing, and deoxy‐azacytidin (aza‐dC) treatment identified differential GLCE promoter methylation (LNCaP 70–72%, PC3 32–35%, DU145, and PNT2 no methylation), which seems to contribute to heterogeneous GLCE expression in prostate tumors. The obtained results reveal the complex deregulation of GLCE expression in prostatic diseases compared with normal prostate tissue and suggest that GLCE may be used as a potential model to study the functional role of intratumor cell heterogeneity in prostate cancer progression.
‘In Earlier Days Everyone Could Discipline Children, Now They Have Rights’: Caregiving Dilemmas of Guidance and Control in Urban Tanzania
Authors: Frankenberg Sofia Johnson , Holmqvist Rolf , Rubenson Birgitta 
Published: August 2013

ABSTRACTCaregiving practices in Tanzania are potentially affected by socio‐demographic change such as urbanization and globalization. The aim of this study is to explore adult caregivers' discourses regarding the responsibility of caregiving, related to guidance and control of children in Tanzania. Data was collected in focus group discussions with parents and grandparents in an urban area of Tanzania. The analysis found two interpretative repertoires: guidance and control as a community matter and guidance and control as a family matter. These repertoires are related to responsibility and to an ideological dilemma regarding parental authority and individual's rights. The findings are discussed in relation to the tendency to polarize between ideologically traditional versus modern societies. This illustrates how lived ideology of caregiving responsibility is historically and socially situated, in the local context and how the spread of Children's Rights ideology needs to be understood in this context. Copyright © 2013 John Wiley & Sons, Ltd.
Development of Fragment‐Based n‐FABS NMR Screening Applied to the Membrane Enzyme FAAH
Authors: Lambruschini Chiara , Veronesi Marina , Romeo Elisa , Garau Gianpiero , Bandiera Tiziano , Piomelli Daniele , Scarpelli Rita , Dalvit Claudio 
Published: August 2013

AbstractDespite the recognized importance of membrane proteins as pharmaceutical targets, the reliable identification of fragment hits that are able to bind these proteins is still a major challenge. Among different 19F NMR spectroscopic methods, n‐fluorine atoms for biochemical screening (n‐FABS) is a highly sensitive technique that has been used efficiently for fragment screening, but its application for membrane enzymes has not been reported yet. Herein, we present the first successful application of n‐FABS to the discovery of novel fragment hits, targeting the membrane‐bound enzyme fatty acid amide hydrolase (FAAH), using a library of fluorinated fragments generated based on the different local environment of fluorine concept. The use of the recombinant fusion protein MBP‐FAAH and the design of compound 11 as a suitable novel fluorinated substrate analogue allowed n‐FABS screening to be efficiently performed using a very small amount of enzyme. Notably, we have identified 19 novel fragment hits that inhibit FAAH with a median effective concentration (IC50) in the low mM–μM range. To the best of our knowledge, these results represent the first application of a 19F NMR fragment‐based functional assay to a membrane protein.
Isolated Vanadium Surface Complexes on Aluminum Fluoride ‐ A Model for the Relevance of Oxygen Atoms of Aluminum Oxide Supports in Catalytic Oxidation Reactions
Authors: Haeßner Carmen , Müller Barbara , Storcheva Oksana , Köhler Klaus 
Published: August 2013

AbstractThe redox properties and reactivity of oxidation catalysts of isolated mononuclear oxovanadium complexes supported on aluminum fluoride, AlF3, and on aluminum oxide, Al2O3, were compared. AlF3 is an interesting model for a non‐oxide support to study the role of oxygen atoms of nonreducible oxide supports during catalytic oxidation with supported vanadium oxide catalysts. Solid‐state 1H NMR indicate the presence of reactive FH and OH groups on the surface of AlF3 and the presence of reactive OH groups on the surface of Al2O3. Oxovanadium(V) triisopropoxide, VO(OiPr)3, was grafted onto the surfaces of both supports. Immobilization led to mononuclear vanadium complexes with oxidation states of +V (major) and +IV (minor). In contrast to alumina, the vanadium surface species were neither reducible nor oxidizable on AlF3. Redox cycles were studied by electron paramagnetic resonance of vanadium(IV). In situ IR spectroscopic investigations showed high and comparable initial stoichiometric reactivity to propane for both catalysts. Reactions on AlF3 stopped after a short initial period as a result of the absence of surface oxygen of the support. The results indicate the relevance of surface oxygen of the alumina support in oxidation reactions. In contrast to vanadium on alumina, VOx/AlF3 is catalytically inactive in the oxidative dehydrogenation of propane. Only after partial oxidation of AlF3 to Al2O3 above 500 °C was catalytic activity observed. The investigations support a recent report contradicting common oxygen‐exchange models, which assume the involvement of only surface vanadium oxide layers, and thus it appears as though a more complex process is in operation.
Unprecedented Electron‐Poor Octahedral Ta6 Clusters in a Solid‐State Compound: Synthesis, Characterisations and Theoretical Investigations of Cs2BaTa6Br15O3
Authors: Demont Antoine , Prestipino Carmelo , Hernandez Olivier , Elkaïm Erik , Paofai Serge , Naumov Nikolaï , Fontaine Bruno , Gautier Régis , Cordier Stéphane 
Published: August 2013

AbstractThe crystal structure of Cs2BaTa6Br15O3 has been elucidated by using synchrotron X‐ray powder diffraction and absorption experiments. It is built from edge‐bridged octahedral [(Ta6${{\rm Br}{{{\rm i}\hfill \atop 9\hfill}}}$${{\rm O}{{{\rm i}\hfill \atop 3\hfill}}}$)${{\rm Br}{{{\rm a}\hfill \atop 6\hfill}}}$]4− cluster units with a singular poor metallic electron (ME) count equal to thirteen. This leads to a paramagnetic behaviour related to one unpaired electron. The arrangement of the Ta6 clusters is similar to that of Cs2LaTa6Br15O3 exhibiting 14‐MEs per [(Ta6${{\rm Br}{{{\rm i}\hfill \atop 9\hfill}}}$${{\rm O}{{{\rm i}\hfill \atop 3\hfill}}}$)${{\rm Br}{{{\rm a}\hfill \atop 6\hfill}}}$]5− motif. The poorer electron‐count cluster presents longer metal–metal distances as foreseen according to the electronic structure of edge‐bridged hexanuclear cluster. Density functional theory (DFT) calculations on molecular models were used to rationalise the structural properties of 13‐ and 14‐ME clusters. Periodic DFT calculations demonstrate that the electronic structure of these solid‐state compounds is related to those of the discrete octahedral units. Oxygen–barium interactions seem to prevent the geometry of the octahedral cluster to strongly distort, allowing stabilisation of this unprecedented electron‐poor Ta6 cluster in the solid state.
Computational fluid dynamics validation and comparison analysis of scale‐up relationships of spouted beds
Authors: Du Wei , Xu Jian , Wei Weisheng , Bao Xiaojun 
Published: August 2013

AbstractA computational fluid dynamics (CFD) approach was attempted to investigate the hydrodynamic similarity of spouted beds of different sizes. The dimensionless scaling groups were derived by analysing the solid stress tensors with the kinetic theory of granular flow (KTGF). Results show that Ums, the minimum spouting velocity and the dimensionless spout diameter (Ds/Dc), become smaller with the increasing column diameter (Dc) as the fluid flares out to the annulus immediately above the orifice, and the portion of fluid in the annulus region increases with the increasing column diameter. Importantly, we observed distinctive dissimilarity in the voidage profiles and dimensionless particle velocities in the upper part of spouted beds, especially for larger columns. New correlations on spout diameter and Ums were derived based on the scaling‐up analysis by regression of experimental data appeared in literatures for both small and large columns, which can greatly improve the predictions for spouted beds as compared with those previous equations, especially for large columns with deviations less than 15% for most of data.
Chemical Reactivity Assessment Using Reactive Paper Spray Ionization Mass Spectrometry: The Katritzky Reaction
Authors: Yan Xin , Augusti Rodinei , Li Xin , Cooks R. Graham 
Published: August 2013

AbstractPaper spray ionization can be used to study organic reactions in solution under ambient conditions by utilizing the rate acceleration that occurs in reactions in small volumes of solution. In this novel approach to performing reactions, reagents are transferred onto a triangular paper surface by drop‐casting and charged droplets of the reaction product mixture are released by field evaporation and examined online by mass spectrometry. The increase in the rate of product formation is attributed to solvent evaporation, which increases reagent concentrations, changes the pH, and enhances intermolecular interactions. As a proof of principle, the Katritzky reaction between a pyrylium salt and mono‐ or diamines, including substituted anilines, was investigated. The influence of electronic and steric effects was evaluated straightforwardly. The carbon chain length of α,ω‐diamines was found to control the formation of mono‐ versus disubstituted products, thus reflecting the strong destabilizing coulombic effects in the shorter carbon‐chain systems. Information on the mechanism was provided by the observation of 2H‐pyran intermediates and mixed pyridinium–2H‐pyran ions. The rates of product formation in the base‐assisted Katritzky reaction increase linearly from 0.1 to 10 equivalents of triethylamine. The reactive paper spray technique, owing to its speed and information content, has potential pedagogical value and provides a tool to explore organic reactions and correlate experimental results with current mechanistic understanding.
What does it mean to belong? Interpersonal bonds and intragroup similarities as predictors of felt belonging in different types of groups
Authors: Easterbrook Matt , Vignoles Vivian L. 
Published: August 2013

AbstractBelonging is a fundamental human need, deemed essential for optimal psychological functioning. There is, however, little consensus about how people gain feelings of belonging from social groups, with theories suggesting different antecedents depending upon how groups are conceptualised. The social identity perspective conceptualises groups as social categories and proposes that feelings of group belonging arise from perceived intragroup similarity. However, if groups are construed as interpersonal networks, feelings of belonging would be expected to arise from the quality of relationships and interactions among members. We tested these predictions using multilevel structural equation modelling of longitudinal data from 113 participants. We found that perceived intragroup similarity prospectively predicted feelings of belonging within groups perceived as social categories but not within those perceived as networks, whereas the quality of interpersonal bonds predicted feelings of belonging to both kinds of groups. We discuss the importance of distinguishing types of groups and suggest implications for research into group membership and well‐being. Copyright © 2013 John Wiley & Sons, Ltd.
Further validation of a single‐item measure of social identification
Authors: Reysen Stephen , Katzarska‐Miller Iva , Nesbit Sundé M. , Pierce Lindsey 
Published: August 2013

AbstractWe examine the validity and reliability of a single‐item measure of social identification (SISI). Convergent validity is shown with significant positive correlations with previously published unidimensional and multidimensional measures of in‐group identification and other group‐relevant measures (e.g., entitativity and collective self‐esteem). Divergent validity is shown via nonsignificant correlations with social desirability measures. Predictive validity is shown with positive correlations with group‐relevant behavior (e.g., volunteerism and voting). External validity is shown with correlations with other in‐group identification measures in a community sample. The reliability of the scale is shown by examining scores of the SISI for six different identities at three points in time. Copyright © 2013 John Wiley & Sons, Ltd.