bluuebunny/crossref_metadata_2025_split huggingface dataset:
Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome
Authors: Nakanishi Mariko , Deardorff Matthew A. , Clark Dinah , Levy Susan E. , Krantz Ian , Pipan Mary 
Published: June 2012

AbstractCornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Autism has been reported to occur frequently in CdLS, but the frequency of autism in individuals with the milder CdLS phenotype is not well studied. We investigated autistic features by using a screening tool and a diagnostic interview in 49 individuals with the mild to moderate phenotype from a CdLS research database at the Children's Hospital of Philadelphia. The Social Communication Questionnaire (SCQ), a screening instrument for autistic disorder, was completed for all individuals. For individuals who screened positive and a subset of those that screened negative, the Autism Diagnostic Interview‐Revised (ADI‐R) was administered. Autistic symptom severity was not significantly different by gender, age groups, and genotypes. There was a significant correlation between higher levels of adaptive functioning and lower scores of autistic symptoms. The estimated prevalence of significant autistic features by ADI‐R criteria was 43% in our cohort of individuals with the mild to moderate CdLS phenotype, which suggests that prevalence of autistic disorder may be higher than previously described among individuals with mild to moderate phenotype of CdLS. Clinicians who take care of individuals with CdLS should have a high index of suspicion for autistic features, and refer for further evaluation when these features are present in order to expedite appropriate intervention. © 2012 Wiley Periodicals, Inc.
A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis
Authors: Barbaro Vanessa , Nardiello Paola , Castaldo Giuseppe , Willoughby Colin E. , Ferrari Stefano , Ponzin Diego , Amato Felice , Bonifazi Ernesto , Parekh Mohit , Calistri Arianna , Parolin Cristina , Di Iorio Enzo 
Published: June 2012

AbstractAnkyloblepharon–ectodermal defects–cleft lip/palate (AEC) syndrome is a rare autosomal dominant ectodermal dysplasia syndrome. It is caused by heterozygous mutations in TP63, encoding a transcriptional factor of the p53 family. Mutations in TP63, mainly missense in exons 13 and 14 encoding the sterile alpha motif (SAM) and the transactivation inhibitory (TI) domains, account for 99% of mutations in individuals with AEC syndrome. Of these, ≥70% are de novo mutations, present in the affected patient, but not in parents nor in healthy siblings. However, when a mutation appears de novo, it is not possible to differentiate between a sporadic mutation, or germline mosaicism in the parents. In this latter case, there is a risk of having additional affected offspring. We describe two sisters with AEC syndrome, whose parents were unaffected. Both patients carried the heterozygous c.1568T>C substitution in exon 13 of TP63, resulting in a p.L523P change in the SAM domain of the protein. Analyses of DNA from parental blood cells, seminal fluid (from the father) and maternal cells (buccal, vaginal, and cervical) did not reveal the mutation, suggesting that the mosaicism may involve a very low percentage of cells (very low grade somatic mosaicism) or, more likely, maternal gonadal mosaicism. Mosaicism must be considered for the assessment of recurrence risk during genetic counseling in AEC syndrome, and pre‐implantation/prenatal genetic diagnosis should be offered to all couples, even when the mutation is apparently de novo. © 2012 Wiley Periodicals, Inc.
Cocontinuous morphology in vinylidene fluoride based polymers/poly(ethylene oxide) blends
Authors: Daux V. , Prochazka F. , Carrot C. 
Published: June 2012

AbstractIn this work, blends of three different vinylidene fluoride (VdF) based homopolymers and copolymers with poly(ethylene oxide) were investigated. We focused on the continuity domain and, more particularly, on the cocontinuous morphology of these systems. The melt‐mixed blends were characterized by different techniques. The morphology was identified through a selective extraction technique and was confirmed by scanning electron microscopy. Dynamic oscillatory shear measurements were performed with a constant stress rheometer in the linear viscoelastic domain in the whole composition range. Because of the high viscosities and long relaxation times of the VdF‐based polymers, the interfacial effects were hidden by the intrinsic behavior of the neat components. Nevertheless, the combination of the different techniques highlighted the similarity of the systems toward morphological development, whatever the VdF monomers. The experiments and theoretical analysis indicated that the rheological behavior dominated the interfacial effects in such systems with a large viscosity ratio and that it also dictated the boundaries of the continuity domain. The originality of this study came from the use of three different VdF‐based polymers. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Energetic Hydrazine‐Based Salts with Nitrogen‐Rich and Oxidizing Anions
Authors: Sabaté Carles Miró , Delalu Henri , Jeanneau Erwann 
Published: June 2012

Abstract1,1,1‐Trimethylhydrazinium iodide ([(CH3)3NNH2]I, 1) was reacted with a silver salt to form the corresponding nitrate ([(CH3)3NNH2][NO3], 2), perchlorate ([(CH3)3NNH2][ClO4], 3), azide ([(CH3)3NNH2][N3], 4), 5‐amino‐1H‐tetrazolate ([(CH3)3NNH2][H2NCN4], 5), and sulfate ([(CH3)3NNH2]2[SO4]⋅2H2O, 6⋅2H2O) salts. The metathesis reaction of compound 6⋅2H2O with barium salts led to the formation of the corresponding picrate ([(CH3)3NNH2][(NO2)3Ph‐O], 7), dinitramide ([(CH3)3NNH2][N(NO2)2], 8), 5‐nitrotetrazolate ([(CH3)3NNH2][O2NCN4], 9), and nitroformiate ([(CH3)3NNH2][C(NO2)3], 10) salts. Compounds 1–10 were characterized by elemental analysis, mass spectrometry, infrared/Raman spectroscopy, and multinuclear NMR spectroscopy (1H, 13C, and 15N). Additionally, compounds 1, 6, and 7 were also characterized by low‐temperature X‐ray diffraction techniques (XRD). Ba(NH4)(NT)3 (NT=5‐nitrotetrazole anion) was accidentally obtained during the synthesis of the 5‐nitrotetrazole salt 9 and was also characterized by low‐temperature XRD. Furthermore, the structure of the [(CH3)3NNH2]+ cation was optimized using the B3LYP method and used to calculate its vibrational frequencies, NBO charges, and electronic energy. Differential scanning calorimetry (DSC) was used to assess the thermal stabilities of salts 2–5 and 7–10, and the sensitivities of the materials towards classical stimuli were estimated by submitting the compounds to standard (BAM) tests. Lastly, we computed the performance parameters (detonation pressures/velocities and specific impulses) and the decomposition gases of compounds 2–5 and 7–10 and those of their oxygen‐balanced mixtures with an oxidizer.
A portable gas sensor based on cataluminescence
Authors: Kang C , Tang F , Liu Y , Wu Y , Wang X 
Published: June 2012

ABSTRACTWe describe a portable gas sensor based on cataluminescence. Miniaturization of the gas sensor was achieved by using a miniature photomultiplier tube, a miniature gas pump and a simple light seal. The signal to noise ratio (SNR) was considered as the evaluation criteria for the design and testing of the sensor. The main source of noise was from thermal background. Optimal working temperature and flow rate were determined experimentally from the viewpoint of improvement in SNR. A series of parameters related to analytical performance was estimated. The limitation of detection of the sensor was 7 ppm (SNR = 3) for ethanol and 10 ppm (SNR = 3) for hydrogen sulphide. Zirconia and barium carbonate were respectively selected as nano‐sized catalysts for ethanol and hydrogen sulphide. Copyright © 2012 John Wiley & Sons, Ltd.
Biomass production from Trichoderma viride in nonconventional oat medium
Authors: Motta F. L. , Santana M. H. A. 
Published: June 2012

AbstractOatmeal, an alternative, renewable, and low‐cost substrate, was used for the production of Trichoderma viride spores by submerged fermentation. The nonconventional oat medium was only supplemented with potato peptone, which is a green source of nitrogen for the microorganism. Because particles are suspended in the nonconventional oat medium, the characterization was based on viscosity, average particle diameter, size distribution, and porosity of the particles. Because of the complexity of the fungal biomass extraction, the dry weight and protein content were used as methods for quantifying the growth of T. viride. The inversion between the proportion of mycelia and spores was captured in the microscopic image analysis during the fermentation process. After 60 h, spores began to appear, accounting for most of the form present at 120 h of fermentation. The decrease in pH and the increase in glucose concentration during fermentation indicate that glucan hydrolysis occurs and that glucose is released into the medium. The potential for industrial applications of submerged fermentation with oats for biomass production of T. viride is noted in the results. This simple and easily controllable process has several advantages, including the use of low‐cost substrates for the propagation of a microorganism that is widely used in scientific and commercial settings. © 2012 American Institute of Chemical Engineers Biotechnol. Prog., 2012
Host cell protein adsorption characteristics during protein a chromatography
Authors: Tarrant Richard D. R. , Velez‐Suberbie M. Lourdes , Tait Andrew S. , Smales C. Mark , Bracewell Daniel G. 
Published: June 2012

AbstractProtein A chromatography is a critical and ‘gold‐standard’ step in the purification of monoclonal antibody (mAb) products. Its ability to remove >98% of impurities in a single step alleviates the burden on subsequent process steps and facilitates the implementation of platform processes, with a minimal number of chromatographic steps. Here, we have evaluated four commercially available protein A chromatography matrices in terms of their ability to remove host cell proteins (HCPs), a complex group of process related impurities that must be removed to minimal levels. SELDI‐TOF MS was used as a screening tool to generate an impurity profile fingerprint for each resin and indicated a number of residual impurities present following protein A chromatography, agreeing with HCP ELISA. Although many of these were observed for all matrices there was a significantly elevated level of impurity binding associated with the resin based on controlled pore glass under standard conditions. Use of null cell line supernatant with and without spiked purified mAb demonstrated the interaction of HCPs to be not only with the resin back‐bone but also with the bound mAb. A null cell line column overload and sample enrichment method before 2D‐PAGE was then used to determine individual components associated with resin back‐bone adsorption. The methods shown allow for a critical analysis of HCP removal during protein A chromatography. Taken together they provide the necessary process understanding to allow process engineers to identify rational approaches for the removal of prominent HCPs. © 2012 American Institute of Chemical Engineers Biotechnol. Prog., 28: 1037–1044, 2012
Modeling the angiotensin‐converting enzyme inhibitory activity of peptide mixtures obtained from cheese whey hydrolysates using concentration–response curves
Authors: Estévez Natalia , Fuciños Pablo , Sobrosa Ana C. , Pastrana Lorenzo , Pérez Nelson , Luisa Rúa M. 
Published: June 2012

AbstractThree mathematical models, two logistic models (previously published in previous works) and one mechanistic, developed in this work and based on Michaelis–Menten kinetics, were compared to select the most adequate model in describing the angiotensin‐converting enzyme (ACE)‐inhibitory activity of bioactive peptide mixtures obtained from cheese whey protein. The significance of both the model and its parameters as well as the value of the regression coefficient was used as criteria to select the most adequate model for obtaining the IC50 values corresponding to each bioactive peptides mixture. The best results were obtained with the Michaelis–Menten‐based model because it provided the best fits and in addition the values for its parameters were always significant. As parameters of this model have a physical meaning, it could be used for inhibition‐testing experiments in the development of novel bioactive peptides. The results obtained indicated that the peptide mixture derived from the neutrase hydrolysis exhibited strong ACE inhibition activity. The main active peptides were short, with molecular masses below 1 kDa (IC50 = 40.37 ± 2.66 μg/mL) and represent 38% of the initial protein content in the hydrolysate. © 2012 American Institute of Chemical Engineers Biotechnol. Prog., 2012
Resources from Waste
Authors: Simon Franz‐Georg , Adam Christian 
Published: June 2012

AbstractDie Beseitigung unbehandelter Abfälle auf Deponien gehört der Vergangenheit an, nicht nur weil Verordnungen diese Praxis verbieten, sondern auch, weil wegen steigender Preise für Rohstoffe und sinkender Gehalte in Erzen auch in Abfällen nach Alternativen gesucht wird. In den Aschen aus Hausmüllverbrennungsanlagen können mit einfachen Verfahren Metalle zurückgewonnen werden. Mit dem Phosphor aus Klärschlammaschen können Düngemittel hergestellt und so natürliche Ressourcen geschont werden. In beiden Fällen ist die Anreicherung der Wertstoffe durch den Verbrennungsprozess vorteilhaft, da die Effizienz von Recyclingprozessen stark von der Konzentration im Ausgangsgut abhängig ist.
Veterinary Drugs in Soil and in the Aquatic Environment
Authors: Hamscher Gerd , Mohring Siegrun A. I. 
Published: June 2012

AbstractIn den letzten Jahren wurden weltweit Untersuchungen zu Vorkommen, Verhalten und möglichen Effekten von Tierarzneimitteln in der Umwelt durchgeführt. Der nach wie vor beträchtliche Einsatz von Tierarzneimitteln in der intensiven Tierhaltung führt vor allem zu einem Eintrag von pharmakologisch wirksamen Stoffen und ihren Metaboliten in Wirtschaftsdünger. Durch die Düngung gelangen diese in Böden und evtl. auch in das Grundwasser. Akute toxische Effekte auf Umweltorganismen durch bestimmte Antiparasitika sind bereits seit längerer Zeit bekannt, während vergleichbare Wirkungen durch die gemessenen Veterinärantibiotika‐Konzentrationen nicht zu erwarten sind. Allerdings gibt es Hinweise auf einen Anstieg antibiotischer Resistenzgene in Böden. Eine Reduktion des Eintrags an Tierarzneimitteln in die Umwelt muss daher angestrebt werden. Möglichkeiten auf tiermedizinischer, legislativer und technologischer Ebene werden vorgestellt.
From End‐of‐Pipe Environmental Protection to Sustainable Production
Authors: Stiehl Christine , Hirth Thomas 
Published: June 2012

AbstractDer Umweltschutz in der Industrie hat in den vergangenen 40 Jahren einen deutlichen Wandel erlebt. In den 70er Jahren wurden das Ausmaß der industriellen Produktion und die Auswirkungen auf die Umwelt erstmals deutlich erkennbar. Additive Umweltschutzmaßnahmen haben in der Folge zu einer deutlichen Verbesserung der Umweltbereiche Wasser, Luft und Boden geführt. Die 80er Jahre haben die Grenzen der additiven Maßnahmen zum Umweltschutz deutlich aufgezeigt und zu der Erkenntnis geführt, dass nur durch eine detaillierte Betrachtung der Produktionsprozesse eine weitere Reduktion der Umweltbelastungen möglich ist. Die 90er Jahre waren im Wesentlichen geprägt durch die Abkehr von der linearen Quellen‐Senken‐Wirtschaft hin zur Kreislaufwirtschaft. Durch diese Maßnahmen und Entwicklungen ist der Umweltschutz global und insbesondere für Deutschland zu einem wichtigen Wirtschaftsfaktor geworden. Heute stehen die Industrie und die Gesellschaft vor einem erneuten Paradigmenwechsel, der die einseitige ökologische Betrachtung aufgibt, die ökonomische und soziale Dimension deutlich stärker berücksichtigt und dadurch zu einer nachhaltigeren Produktion führt. Zukünftig werden deshalb verstärkt ganze Prozessketten und Prozessnetze auch branchenübergreifend betrachten werden müssen.
Electrochemical regulation of cell polarity and the cytoskeleton
Authors: Campetelli Alexis , Bonazzi Daria , Minc Nicolas 
Published: June 2012

AbstractCell polarity plays a key role in regulating cell–cell communication, tissue architecture, and development. Both internal and external cues participate in directing polarity and feedback onto each other for robust polarization. One poorly appreciated layer of polarity regulation comes from electrochemical signals spatially organized at the level of the cell or the tissue. These signals which include ion fluxes, membrane potential gradients, or even steady electric fields, emerge from the polarized activation of specific ion transporters, and may guide polarity in wound‐healing, development or regeneration. How a given electrochemical cue may influence cytoskeletal elements and cell polarity remains unclear. Here, we review recent progress highlighting the role of electrochemical signals in cell and tissue spatial organization, and elucidating the mechanisms for how such signals may regulate cytoskeletal assembly for cell polarity. © 2012 Wiley Periodicals, Inc.
Inflammation and fatigue dimensions in advanced cancer patients and cancer survivors
Authors: de Raaf Pleun J. , Sleijfer Stefan , Lamers Cor H.J. , Jager Agnes , Gratama Jan Willem , van der Rijt Carin C. D. 
Published: June 2012

AbstractBACKGROUND:Inflammation may underlie cancer‐related fatigue; however, there are no studies that assess the relation between fatigue and cytokines in patients with advanced disease versus patients without disease activity. Furthermore, the relation between cytokines and the separate dimensions of fatigue is unknown. Here, association of plasma levels of inflammatory markers with physical fatigue and mental fatigue was explored in advanced cancer patients and cancer survivors.METHODS:A total of 45 advanced cancer patients and 47 cancer survivors completed the subscales Physical Fatigue and Mental Fatigue of the Multidimensional Fatigue Inventory. Plasma concentrations of C‐reactive protein (CRP), interleukin‐1 receptor antagonist (IL‐1‐ra), interleukin‐6 (IL‐6), interleukin‐8 (IL‐8), and neopterin were measured. Nonparametric tests were used to assess differences in fatigue intensity and levels of inflammatory markers and to determine correlation coefficients between the fatigue dimensions and inflammatory markers.RESULTS:Compared with cancer survivors, patients with advanced cancer had higher levels of physical fatigue (median 16 vs 9, P < .001) and mental fatigue (median 11 vs 6, P = .01). They also had higher levels of all cytokines (P < .01). In advanced cancer, CRP (r = 0.49, P = .001), IL‐6 (r = 0.43, P = .003), IL‐1‐ra (r = 0.32, P = .03), and neopterin (r = 0.25, P = .10) were correlated with physical but not with mental fatigue. In cancer survivors, only IL‐1‐ra was related to both physical fatigue (r = 0.24, P = .10) and mental fatigue (r = 0.35, P = .02).CONCLUSIONS:In advanced cancer, inflammation seems to be associated with physical fatigue, but not to mental fatigue. In cancer survivors, there was no convincing evidence that inflammation plays a major role in fatigue. Cancer 2012. © 2012 American Cancer Society.
Association between insurance and socioeconomic status and risk of advanced stage Hodgkin lymphoma in adolescents and young adults
Authors: Smith Erlyn C. , Ziogas Argyrios , Anton‐Culver Hoda 
Published: June 2012

AbstractBACKGROUND:Hodgkin lymphoma (HL) is one of the most common types of cancer among adolescents and young adults (AYAs) in the United States. Unfortunately, a greater percentage of AYAs are presenting with an advanced stage of disease at the time of diagnosis compared with their younger counterparts.METHODS:The objective of the current study was to examine the association between possible barriers and characteristics (including gender, race, birthplace, marital status, socioeconomic status [SES], and insurance status) that may increase the risk of advanced stage HL at the time of diagnosis in a large cohort of AYA patients with HL from the California Cancer Registry (7343 incident cases of HL diagnosed from 1988‐2006, between ages 15 years‐40 years).RESULTS:AYAs with advanced stage HL were more likely to be male, of Hispanic or black race/ethnicity, foreign born, single, of lower SES, and uninsured or to have only public health insurance (P < .05). Multivariate logistic regression analysis demonstrated that there was a significant increase in the odds of having advanced HL in males (odds ratio [OR], 1.57; 95% confidence interval [95% CI], 1.42‐1.74 [P < .0001]), those with the lowest SES (OR, 1.47; 95% CI, 1.23‐1.75 [P = .0003]), those without health insurance (OR, 1.76; 95% CI, 1.34‐2.31 [P < .0001]), and those with public health insurance (OR, 1.45; 95% CI, 1.23‐1.71 [P < .0001]).CONCLUSIONS:A strong association was found between male gender, lower SES, and lack of health insurance and advanced stage HL at the time of diagnosis in AYAs (See editorial on pages 000–000, this issue.) Cancer 2012. © 2012 American Cancer Society.
The circadian clock network in the brain of different Drosophila species
Authors: Hermann Christiane , Saccon Rachele , Senthilan Pingkalai R. , Domnik Lilith , Dircksen Heinrich , Yoshii Taishi , Helfrich‐Förster Charlotte 
Published: June 2012

AbstractComparative studies on cellular and molecular clock mechanisms have revealed striking similarities in the organization of the clocks among different animal groups. To gain evolutionary insight into the properties of the clock network within the Drosophila genus, we analyzed sequence identities and similarities of clock protein homologues and immunostained brains of 10 different Drosophila species using antibodies against vrille (VRI), PAR‐protein domain1 (PDP1), and cryptochrome (CRY). We found that the clock network of both subgenera Sophophora and Drosophila consists of all lateral and dorsal clock neuron clusters that were previously described in Drosophila melanogaster. Immunostaining against CRY and the neuropeptide pigment‐dispersing factor (PDF), however, revealed species‐specific differences. All species of the Drosophila subgenus and D. pseudoobscura of the Sophophora subgenus completely lacked CRY in the large ventrolateral clock neurons (lLNvs) and showed reduced PDF immunostaining in the small ventrolateral clock neurons (sLNvs). In contrast, we found the expression of the ion transport peptide (ITP) to be consistent within the fifth sLNv and one dorsolateral clock neuron (LNd) in all investigated species, suggesting a conserved putative function of this neuropeptide in the clock. We conclude that the general anatomy of the clock network is highly conserved throughout the Drosophila genus, although there is variation in PDF and CRY expression. Our comparative study is a first step toward understanding the organization of the circadian clock in Drosophila species adapted to different habitats. J. Comp. Neurol. 521:367–388, 2013. © 2012 Wiley Periodicals, Inc.