bluuebunny/crossref_metadata_2025_split huggingface dataset:
Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome
Authors: Shimojima Keiko , Okanishi Tohru , Yamamoto Toshiyuki 
Published: August 2011

AbstractSotos syndrome is a rare genetic disorder characterized by overgrowth associated with macrocephaly and delayed psychomotor development. Patients with Sotos syndrome show 5q35 deletions involving NSD1 or its point mutations. We identified the common 5q35 deletion in a patient with atypical Sotos syndrome manifesting extremely severe developmental delay, joint hypermobility, and skin hyperextensibility, which are recognized as Marfanoid hypermobility syndrome. Further analyses were performed to identify the genetic cause of these additional findings. aCGH analysis revealed an additional 862 kb deletion of Xq22.3 in this patient, which was inherited from his healthy mother. The deleted region included five genes, including the nik‐related kinase gene (NRK), which would be a candidate gene for the patient's Marfanoid hypermobility, because it is a member of the glucokinase subfamily that are involved in activating the JNK pathway, and is expressed in developing skeletal musculature. Severe developmental delay seen in the patient may be derived from position effect of the deletion for neighboring interleukin 1 receptor accessory protein‐like 2 gene (IL1RAPL2), which is a candidate gene for X‐linked mental retardation. © 2011 Wiley‐Liss, Inc.
Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot
Authors: Weymouth Katelyn S. , Blanton Susan H. , Bamshad Michael J. , Beck Anita E. , Alvarez Christine , Richards Steve , Gurnett Christina A. , Dobbs Matthew B. , Barnes Douglas , Mitchell Laura E. , Hecht Jacqueline T. 
Published: August 2011

AbstractIsolated clubfoot is a relatively common birth defect that affects approximately 4,000 newborns in the US each year. Calf muscles in the affected leg(s) are underdeveloped and remain small even after corrective treatment. This observation suggests that variants in genes that influence muscle development are priority candidate risk factors for clubfoot. This contention is further supported by the discovery that mutations in genes that encode components of the muscle contractile complex (MYH3, TPM2, TNNT3, TNNI2, and MYH8) cause congenital contractures, including clubfoot, in distal arthrogryposis (DA) syndromes. Interrogation of 15 genes encoding proteins that control myofiber contractility in a cohort of both non‐Hispanic White (NHW) and Hispanic families, identified positive associations (P < 0.05) with SNPs in 12 genes; only 1 was identified in a family‐based validation dataset. Six SNPs in TNNC2 deviated from Hardy–Weinberg equilibrium in mothers in our NHW discovery dataset. Relative risk and likelihood ratio tests showed evidence for a maternal genotypic effect with TNNC2/rs383112 and an inherited/child genotypic effect with two SNPs, TNNC2/rs4629 and rs383112. Associations with multiple SNPs in TPM1 were identified in the NHW discovery (rs4075583, P = 0.01), family‐based validation (rs1972041, P = 0.000074), and case–control validation (rs12148828, P = 0.04) datasets. Gene interactions were identified between multiple muscle contraction genes with many of the interactions involving at least one potential regulatory SNP. Collectively, our results suggest that variation in genes that encode contractile proteins of skeletal myofibers may play a role in the etiology of clubfoot. © 2011 Wiley‐Liss, Inc.
Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population.
Authors: Pan Yongchu , Zhang Weibing , Du Yifei , Tong Na , Han Yue , Zhang Hongchuang , Wang Meilin , Ma Junqing , Wan Linzhon , Wang Lin 
Published: August 2011

AbstractNonsyndromic orofacial clefts (NSOC) are the most common developmental anomalies in human beings. Recently, a large‐scale genome‐wide association study identified two novel NSOC susceptibility loci: rs13041247 nearMAFBand rs560426 nearABCA4. In the present study, we recruited 396 NSOC cases and 384 healthy controls to replicate their associations with risk of NSOC as well as their subgroups in a Chinese Han population. We found the overall genotype and allele frequencies of rs13041247, but not rs560426 were significantly different between cases and controls. Further logistic regression analysis showed rs13041247 CT, CC, and CT/CC were associated with decreased NSOC susceptibility, compared with rs13041247 TT wide‐type homozygote. Moreover, the apparent protection against cleft lip with or without cleft palate (CL/P), cleft lip with cleft palate (CLP), and cleft lip only (CLO) was also identified in stratified analysis. However, none of any rs560426 genotypes or alleles was associated with risk of NSOC or their subgroups. Taken together, our findings confirmed the contribution ofMAFBin the etiology of NSOC in a Chinese Han population. © 2011 Wiley‐Liss, Inc.
Chromosome 22q11.2 deletion syndrome in African‐American patients: A diagnostic challenge
Authors: Veerapandiyan Aravindhan , Abdul‐Rahman Omar A. , Adam Margaret P. , Lyons Michael J. , Manning Melanie , Coleman Karlene , Kobrynski Lisa , Taneja Deeksha , Schoch Kelly , Zimmerman Holly H. , Shashi Vandana 
Published: August 2011

AbstractChromosome 22q11.2 deletion syndrome (22q11DS) is associated with numerous and variable clinical manifestations including conotruncal heart abnormalities, palatal anomalies, hypoparathyroidism, immune deficiency, and cognitive deficits. The clinical suspicion of this syndrome is often heightened by the presence of characteristic facial features. A previous report highlighted the under‐diagnosis of this condition in African Americans, thought to be related to a paucity of typical facial features. We ascertained the largest cohort (n = 50) of African‐American individuals with 22q11DS reported thus far, across five genetics centers in the United States and report on their facial and other phenotypic features. About ${\raise0.5ex\hbox{$\scriptstyle 3$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle {4}$}}$ of our cohort has at least one dysmorphic facial feature. Auricular abnormalities, especially small ears, are the most common dysmorphic facial feature followed by nasal and ocular abnormalities. Skeletal findings are seen in about 2/3 of our cohort, higher than the typical frequency reported in 22q11DS. Cardiac anomalies, developmental delay, and palatal abnormalities are seen at a lower frequency in our cohort. Thus, it is evident that the features traditionally associated with 22q11DS are difficult to recognize in African‐American individuals with this syndrome, due to both altered frequencies of major anomalies and a non‐classic facial appearance. Therefore, a high index of suspicion is needed to recognize 22q11DS in African‐American individuals. © 2011 Wiley‐Liss, Inc.
Synthesis, Spectroscopic Characterization, Antimicrobial, Pesticidal and Nematicidal Activity of Some Nitrogen‐Oxygen and Nitrogen‐Sulfur donor Coumarins based Ligands and their Organotin(IV) Complexes
Authors: Dawara Latika , Singh R.V. 
Published: August 2011

AbstractSeries of new tin complexes are synthesized by classical thermal and microwave‐irradiated techniques. The biologically potent ligands 3‐formyl‐4‐chlorocoumarin semicarbazone (L1H) and 3‐formyl‐4‐chlorocoumarin thiosemicarbazone (L2H), were prepared by the condensation of semicarbazide hydrochloride and thiosemicarbazide in ethanol with the particular ketone by using microwave as well as conventional methods. The tin(IV) complexes have been prepared by mixing Ph3SnCl/Me3SnCl/Me2SnCl2 in 1:1 and 1:2 molar ratios with monofunctional bidentate ligands. The structures of the ligands and their tin complexes were confirmed by the elemental analysis, melting point determinations, molecular weight determinations, IR, 1H NMR, 13C NMR, 119Sn NMR, UV, mass spectral and X‐ray powder diffraction studies. On the basis of these studies it is clear that the ligands coordinated to the metal atom in a monobasic bidentate mode, by X$^{\cap}$ N donor system. Thus, suitable trigonal bipyramidal geometry for penta‐coordinated state and octahedral geometry for hexa‐coordinated state have been suggested for the 1:1 and 1:2 metal compounds. Both the ligands and their complexes have been screened for their antimicrobial, pesticidal and nematicidal activities. Copyright © 2011 John Wiley & Sons, Ltd.
DNA interaction, free radical scavenging andin‐vitroantibacterial activity of drug‐based copper(II) complexes
Authors: Patel Mohan N. , Dosi Promise A. , Bhatt Bhupesh S. 
Published: August 2011

AbstractThe Cu(II) complexes of type [Cu(cpf)(An)Cl] (An= terpyridines, cpf = ciprofloxacin) were synthesized and characterized using IR, mass and reflectance spectra. The free ligands and their complexes were evaluated for theirin‐vitroantimicrobial activity against a panel of Gram‐positive and Gram‐negative bacteria. The complexes exhibit better or equal inhibition in comparison to free fluoroquinolones. Binding interactions of the complexes with calf thymus (CT DNA) were investigated by absorption titration, viscosity studies and DNA melting temperature experiment. The cleavage reaction on pUC19 DNA was monitored by agarose gel electrophoresis. The lower concentration of the complexes was catalysed the dismutation of superoxide radical at biological pH, which indicates that the complexes can act as a possible model for superoxide dismutase. Copyright © 2011 John Wiley & Sons, Ltd.
Synthesis and biological evaluation of a novel 99mTc‐cyclopentadienyltricarbonyl technetium complex as a new potential brain perfusion imaging agent
Authors: Malek‐Saied Nadia , Aissi Radhia El , Ladeira Sonia , Benoist Eric 
Published: August 2011

AbstractA new cytectrene prototype of general formula RCpTc(CO)3 (R = C6H5NHCO, Cp = cyclopentadienyl moiety) has been synthesized from N‐phenylferrocenecarboxamide 2, characterized and evaluated as a potential brain perfusion imaging agent. An improved procedure has been developed to obtain both the ligand 2, characterized by its solid‐state structure (orthorhombic, Pccn, a = 10.4443(2) Å, b = 26.1467(6) Å, c = 9.9977(3) Å), and the corresponding metallic Tc‐ and Re‐complexes in good yield. These latter complexes possessed similar HPLC retention times, thereby indicating identity of their molecular structures. The Tc‐complex 99mTc‐2 is lipophilic enough to cross the blood‐brain barrier. This complex exhibits good brain uptake (1.41% injected dose per gram tissue at 5 min) combined with a fairly good retention of radioactivity in brain (0.48% injected dose per gram tissue after 1 h). Then, the distribution of the activity at 5 min post‐injection in various rat brain regions showed a higher accumulation in the hippocampus area. The new 99mTc‐cyclopentadienyltricarbonyl technetium complex reported here showed promising biological results, making it an interesting base for the development of a new generation of cytectrene as brain perfusion imaging agent. Copyright © 2011 John Wiley & Sons, Ltd.
Design feature sensitivity analysis in a numerical model of an extrusion spider die
Authors: Mamalis A. G. , Kouzilos G. , Vortselas A. K. 
Published: August 2011

AbstractIn this work, we aimed to develop an optimum design for a spider die used for the extrusion of high‐density polyethylene tubes. For this purpose, a computational‐fluid‐dynamics‐based model using the generalized Newtonian approach was employed to investigate the pressure drop, flow, and temperature uniformity in the die. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Some features of polymeric membranes for water purification via membrane distillation
Authors: Mannella G. A. , La Carrubba V. , Brucato V. 
Published: August 2011

AbstractPolymeric membranes are currently adopted in water purification processes, such as reverse osmosis (RO) and membrane distillation (MD). This latter technique is very promising for separation effectiveness and energy savings. A valuable and effective MD unit must be equipped with polymeric membranes that exhibit specific properties, for example, hydrophobicity, a narrow pore size range, a high water penetration pressure, and a large vapor permeability. In this work, we present and examine the main features of membranes for MD processes, with the aim of experimentally evaluating the related performances. Scanning electron microscopy analysis was carried out for a first estimate of the pore size distribution; this showed a discrepancy between the nominal pore size and the actual distribution. Vapor flux under typical water purification conditions was measured for different commercial membranes, and values as high as 35 kg m−2 h−1 were observed. Polytetrafluoroethylene membranes were more permeable for both of the MD configurations tested. The liquid entry pressure (LEP) showed an irreversible decrease in the early operation cycles related to microstructural modifications. A LEP reversible decrease with increasing temperature was observed; this showed that in the membrane selection, the nominal LEP value had to be corrected for the temperature effect for the correct choice. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
The homopolymer poly(3‐hydroxyoctanoate) as a matrix material for soft tissue engineering
Authors: Rai Ranjana , Boccaccini Aldo R. , Knowles Jonathan C. , Mordon Nicola , Salih Vehid , Locke Ian C. , Moshrefi‐Torbati M. , Keshavarz Tajalli , Roy Ipsita 
Published: August 2011

AbstractThe homopolymer poly(3‐hydroxyoctanoate), produced from Pseudomonas mendocina with octanoate as a carbon feed, was studied as a potential biomaterial for soft tissue engineering, that is, as a cardiac patch and as matrices for skin tissue engineering. The polymer was fabricated into neat solvent‐cast films of 5 and 10 wt %. Microstructural studies revealed the films as having a smooth surface topography with a root mean square value of 0.238 μm. The films also possessed moderate hydrophilicity when compared to other monomers of the polyhydroxyalkanoate family. Stress–strain curves of the films obtained was typical of that of elastomeric polymers. This elastomeric and flexible nature of the films makes them promising candidates for the proposed applications. Biocompatibility studies with the human adult low calcium temperature keratinocytes (HaCaT) keratinocyte cell line showed that the films were able to support the attachment, differentiation, and maturation of the HaCaT cells. In vitro degradation studies over a period of 4 months showed that the water absorption and weight loss increased progressively with time for the films. The films underwent hydrolytic degradation initiated on the surface and also showed an aging effect. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci 122:3606–3617, 2011
Analysis of the performances of organic light‐emitting devices with a doped or an undoped polyaniline–poly(4‐styrenesulfonate) hole‐injection layer
Authors: De Girolamo Del Mauro Anna , Nenna Giuseppe , Bizzarro Valentina , Grimaldi Immacolata Angelica , Villani Fulvia , Minarini Carla 
Published: August 2011

AbstractTransparent and conductive nanocomposite films were spin‐coated with the use of undoped and dimethyl sulfoxide (DMSO)‐doped polyaniline (PANI)–poly(styrene sulfonate) (PSS) dispersions. The prepared dispersions were investigated in terms of their nanoparticle size distributions, and the corresponding films were morphologically, optically, and electrically characterized. These films were used as hole‐injection layers (HILs) in organic light‐emitting diode (OLEDs), and the device performances were compared to a reference device without an HIL. The device based on the PANI–PSS layer showed the best electrooptical characteristics, lowest switch‐on voltage, and improved efficiency. In particular, the device efficiency grew about three times with the introduction of the PANI–PSS layer (1.20 Cd/A) and about two times with the introduction of the DMSO‐doped PANI–PSS film (0.77 Cd/A) compared to an OLED without an HIL (0.4 Cd/A). These results indicate that the device with the undoped PANI–PSS was the more suitable one to be used as an HIL in an OLED device. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Combination of sp2‐ and sp3‐Type Phosphorus Atoms for Gold Chemistry: Preparation, Structure, and Catalytic Activity of Gold Complexes That Bear Ligated 2‐Silyl‐1,3‐diphosphapropenes
Authors: Ito Shigekazu , Zhai Lili , Mikami Koichi 
Published: August 2011

AbstractKinetically protected 2‐silyl‐1,3‐diphosphapropenes that bear both sp2‐ and sp3‐type phosphorus atoms were employed in the preparation of gold complexes. The structural properties of the 1,3‐diphosphapropene digold(I) complexes were characterized by spectroscopic and crystallographic analyses, which revealed unique aurophilic interactions and conformational properties of the ligand. The 2‐silyl‐1,3‐diphosphapropene‐bis(chlorogold) complexes catalyzed cycloisomerization reactions of 1,6‐enyne derivatives even in the absence of silver co‐catalyst, and were able to be recovered after the reaction. The catalytic activity of the digold complexes primarily depended on the sp2‐type phosphorus atom and the silyl group, and could be tuned by the sp3‐phosphino group. Additionally, results on the catalytic activity of the digold complex in the presence and absence of silver salts showed considerable differences.
Joint modelling of longitudinal and time‐to‐event data with application to predicting abdominal aortic aneurysm growth and rupture
Authors: Sweeting Michael J. , Thompson Simon G. 
Published: August 2011

AbstractShared random effects joint models are becoming increasingly popular for investigating the relationship between longitudinal and time‐to‐event data. Although appealing, such complex models are computationally intensive, and quick, approximate methods may provide a reasonable alternative. In this paper, we first compare the shared random effects model with two approximate approaches: a naïve proportional hazards model with time‐dependent covariate and a two‐stage joint model, which uses plug‐in estimates of the fitted values from a longitudinal analysis as covariates in a survival model. We show that the approximate approaches should be avoided since they can severely underestimate any association between the current underlying longitudinal value and the event hazard. We present classical and Bayesian implementations of the shared random effects model and highlight the advantages of the latter for making predictions. We then apply the models described to a study of abdominal aortic aneurysms (AAA) to investigate the association between AAA diameter and the hazard of AAA rupture. Out‐of‐sample predictions of future AAA growth and hazard of rupture are derived from Bayesian posterior predictive distributions, which are easily calculated within an MCMC framework. Finally, using a multivariate survival sub‐model we show that underlying diameter rather than the rate of growth is the most important predictor of AAA rupture.
The Diiodine Basicity Scale: Toward a General Halogen‐Bond Basicity Scale
Authors: Laurence Christian , Graton Jérôme , Berthelot Michel , El Ghomari Mohamed J. 
Published: August 2011

AbstractThe new diiodine basicity scale pKBI2 is quasi‐orthogonal to most known Lewis basicity scales (hydrogen‐bond, dative‐bond and cation basicity scales). The diiodine basicity falls in the sequence N>P≈Se>S>I≈O>Br>Cl>F for the iodine‐bond acceptor atomic site and SbO≈NO≈AsO>SeO>PO>SO>CO>O>SO2 or PS≫S>CS≫NCS for the functionality of oxygen or sulfur bases. Substituent effects are quantified through linear free energy relationships, which allow the calculation of individual complexation constants for each site of polybases and thus the classification of aromatic ethers as carbon π bases and of aromatic amines, thioethers and selenoethers as N, S and Se bases, respectively. The pKBI2 values of nBu3N+‐N−C≡N, 2‐aminopyridine and 1,10‐phenanthroline reveal a superbasic nitrile, a hydrogen‐bond‐assisted iodine bond and a two‐centre iodine bond, respectively. The diiodine basicity scale is a general inorganic but family‐dependent organic halogen‐bond basicity scale because organic halogen‐bond donors such as IC≡N and ICF3 have a stronger electrostatic character than I2. The family independence can be restored by the addition of an electrostatic parameter, either the experimental pKBHX hydrogen‐bond basicity scale or the computed minimum electrostatic potential.
Influence of Moisture Content on the Compression Behavior of Granules
Authors: Müller Peter , Antonyuk Sergiy , Tomas Jürgen 
Published: August 2011

AbstractDas Materialverhalten von γ‐Al2O3‐, Zeolith 4A‐ und Natriumbenzoatgranulaten bei Druckbeanspruchung wurde experimentell als dominant elastisch, elastisch‐plastisch und dominant plastisch bestimmt. Der Einfluss der Feuchtebeladung auf das Materialverhalten wurde ebenfalls ermittelt. Zudem wurden die Kraft/Weg‐Kurven mit bekannten mechanischen Modellen aus der Literatur approximiert.
Elimination of autoreactive B cells in humanized SCID mouse model of SLE
Authors: Kerekov Nikola S. , Mihaylova Nikolina M. , Grozdev Ivan , Todorov Todor A. , Nikolova Milena , Baleva Marta , Nikolova Maria , Prechl Jozsef , Erdei Anna , Tchorbanov Andrey I. 
Published: August 2011

AbstractAlthough the exact etiology of systemic lupus erythematosus (SLE) remains elusive, B‐cell hyperactivity and production of autoantibodies directed to components of the cell nucleus are a well‐established pathogenetic mechanism of the disease. Therefore, the targeted inhibition of DNA‐specific B cells is a logical therapeutic approach. The complement receptor type 1 (CR1, CD35) has been shown to suppress human B‐cell activation and proliferation after co‐cross‐linking with the BCR, and may serve as a mediator for negative signal delivery. In order to evaluate this therapeutic approach in a human‐like system, we used immune‐restricted SCID mice transferred with PBMCs from SLE patients. The tolerance of these humanized SCID mice to native DNA was re‐established after administration of a chimeric molecule consisting of a CR1‐specific mAb coupled to the decapeptide DWEYSVWLSN that mimics dsDNA. The generated protein‐engineered chimera was able to co‐cross‐link selectively native DNA‐specific BCR with the B‐cell inhibitory receptor CR1, thus delivering a strong inhibitory signal.
Water‐Soluble Cobalt(II) and Copper(II) Complexes of 3‐(5‐Chloro‐2‐hydroxy‐3‐sulfophenylhydrazo)pentane‐2,4‐dione as Building Blocks for 3D Supramolecular Networks and Catalysts for TEMPO‐Mediated Aerobic Oxidation of Benzylic Alcohols
Authors: Kopylovich Maximilian N. , Mahmudov Kamran T. , Haukka Matti , Figiel Paweł J. , Mizar Archana , da Silva José A. L. , Pombeiro Armando J. L. 
Published: August 2011

AbstractA new water‐soluble β‐diketone azo derivative ― 3‐(5‐chloro‐2‐hydroxy‐3‐sulfophenylhydrazo)pentane‐2,4‐dione(H3L, 1) ― was synthesized and found to be stable in DMSO solution and in the solid state in the hydrazo tautomeric form. Its water‐soluble complexes [Co(HL)(en)(H2O)]·4H2O (3) and the zwitterionic [Cu(L)(Hen)(H2O)] (4), with buffering properties, were prepared by reaction of cobalt(II) and copper(II) nitrates with the ethylenediammonium (H2en) salt of 1, (H2en)(HL) (2). In the formation of 3 and 4, 1 is a chelating ligand, and a crucial synthetic and structural role is played by en, allowing the organization of water‐soluble assemblies and influencing the overall 3D supramolecular arrangement. Compound 3 is the first cobalt complex with an azo derivative of a β‐diketone. Complex 4 acts as catalyst precursor for the aerobic TEMPO‐mediated selective oxidation of benzylic alcohols to the corresponding aldehydes in aqueous media.