bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3
Authors: Leyva‐Vega Melissa , Gerfen Jennifer , Thiel Brian D. , Jurkiewicz Dorota , Rand Elizabeth B. , Pawlowska Joanna , Kaminska Diana , Russo Pierre , Gai Xiaowu , Krantz Ian D. , Kamath Binita M. , Hakonarson Hakon , Haber Barbara A. , Spinner Nancy B. 
Published: March 2010

AbstractBiliary atresia (BA) is a progressive, idiopathic obliteration of the extrahepatic biliary system occurring exclusively in the neonatal period. It is the most common disease leading to liver transplantation in children. The etiology of BA is unknown, although infectious, immune and genetic causes have been suggested. Although the recurrence of BA in families is not common, there are more than 30 multiplex families reported and an underlying genetic susceptibility has been hypothesized. We screened a cohort of 35 BA patients for genomic alterations that might confer susceptibility to BA. DNA was genotyped on the Illumina Human Hap 550 Beadchip platform, which analyzes over 550,000 single nucleotide polymorphisms (SNPs) for genomic deletions and duplications. Areas of increased and decreased copy number were compared to those found in control populations. To identify regions that could serve as susceptibility factors for BA, we searched for regions that were found in BA patients, but not in controls. We identified two unrelated BA patients with overlapping heterozygous deletions of 2q37.3. Patient 1 had a 1.76 Mb (280 SNP), heterozygous deletion containing 30 genes. Patient 2 had a 5.87 Mb (1,346 SNP) heterozygous deletion containing 55 genes. The overlapping 1.76 Mb deletion on chromosome 2q37.3 from 240,936,900 to 242,692,820 constitutes the critical region and the genes within this region could be candidates for susceptibility to BA. © 2010 Wiley‐Liss, Inc.
Clinical and molecular characterization of overlapping interstitial Xp21‐p22 duplications in two unrelated individuals
Authors: Thorson Laura , Bryke Christine , Rice Gregory , Artzer Amber , Schilz Christine , Israel Jamie , Huber Suzanne , Laffin Jennifer , Raca Gordana 
Published: March 2010

AbstractDevelopment and implementation of high‐density DNA arrays demonstrated the important role of copy number changes on the X chromosome in the etiology of developmental delay and mental retardation (MR). We describe two unrelated patients with developmental delay due to similar interstitial duplications at Xp21‐p22. The first patient is a 6‐month‐old male with multiple affected family members including many females. The second patient is a 5‐year‐old adopted female. In both patients, chromosome analysis and array comparative genomic hybridization (aCGH) showed duplications of overlapping regions at Xp21‐p22. The duplicated segments contain numerous genes associated with MR, including AP1S2, NHS, CDKL5, RPS6KA3, SMS, and ARX. Except for developmental delay, there is little phenotypic overlap between the male and the female patient. Additionally, the female patient and affected female relatives of the male patient have variable severities of cognitive impairment, likely due to different X‐inactivation patterns and effects of other, nonduplicated genes important for normal development. These cases illustrate that increased gene dosage of X‐linked MR genes lead to cognitive impairment. Precise delineation of chromosome rearrangements by aCGH and identification of genes within duplicated segments helped in establishing genotype–phenotype correlations for each of our patients, in comparing them to each other, as well as with previously reported cases of Xp21‐p22 duplications. However, we show that even with detailed molecular characterization, phenotype prediction remains challenging in patients with structural abnormalities of the X chromosome. © 2010 Wiley‐Liss, Inc.
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases
Authors: Kim Ok‐Hwa , Nishimura Gen , Song Hae‐Ryong , Matsui Yoshito , Sakazume Satoru , Yamada Masanobu , Narumi Yoko , Alanay Yasemin , Unger Sheila , Cho Tae‐Joon , Park Sung Sup , Ikegawa Shiro , Meinecke Peter , Superti‐Furga Andrea 
Published: March 2010

AbstractWe present the clinical and radiological findings of seven patients with a seemingly new variant of Desbuquois dysplasia (DBQD) and emphasize the radiographic findings in the hand. All cases showed remarkably accelerated carpal bone ages in childhood, but none of the patients had an accessory ossification center distal to the second metacarpal, or thumb anomalies, instead, there was shortness of one or all metacarpals, with elongated appearance of phalanges, resulting in nearly equal length of the second to fifth fingers. The two sibs followed for 20 years showed narrowing and fusion of the intercarpal joints with age and ultimately, precocious degenerative arthritis. The changes in the feet were similar to those of the hands, with advanced tarsal bone ages, shortness of the metatarsals and elongation of the second and third toes. Other radiographic findings were narrowness of the intervertebral disc spaces resulting in precocious degenerative spondylosis and progressive scoliosis. The femoral neck was short and thick and showed a persistent enlargement of the lesser trochanter with a high‐riding, bulbous greater trochanter that became more prominent with age. Molecular testing of the diastrophic dysplasia sulfate transporter (DTDST) gene was performed on six patients and no mutations were detected. This radiographic and clinical observation further adds to the evidence that there may be subtypes of DBQD. Long‐term follow‐up showed that severe precocious osteoarthritis of the hand and spine is a major manifestation of this specific variant. © 2010 Wiley‐Liss, Inc.
Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome
Authors: Kirmani Salman , Tebben Peter J. , Lteif Aida N. , Gordon David , Clarke Bart L. , Hefferan Theresa E. , Yaszemski Michael J. , McGrann Pamela S. , Lindor Noralane M. , Ellison Jay W. 
Published: March 2010

AbstractLoeys–Dietz syndrome (LDS, OMIM # 609192) caused by heterozygous mutations in TGFBR1 and TGFBR2 has recently been described as an important cause of familial aortic aneurysms. These patients have craniofacial and skeletal features that overlap with the Marfan syndrome (MFS), and more importantly, have significant vascular fragility as is seen in MFS and Ehlers–Danlos syndrome Type IV (EDS‐IV). The skeletal phenotype with respect to low bone mineral density and skeletal fragility is not clear. We present two patients with LDS with significant skeletal fragility. The first is a 17‐year‐old male who had talipes equinovarus, diaphragmatic and inguinal and herniae, aortic root dilatation necessitating surgical repair, craniofacial and skeletal dysmorphism consistent with LDS, and a history of numerous fragility fractures leading to significant skeletal deformity. He was found to be heterozygous for a c.923T > C transition in exon 4 of TGFBR2. The second is a 26‐year‐old male with submucous cleft palate, talipes equinovarus, pectus excavatum requiring surgery, inguinal hernia, and aneurysms in the ascending aorta, abdominal aorta, carotid, subclavian, vertebral and brachial arteries requiring surgical repairs. He also had craniofacial and skeletal dysmorphism consistent with LDS, multiple fractures in childhood, low bone mineral density, and was found to be heterozygous for a c.1561 T > C transition in exon 7 of TGFBR2. These case studies highlight the importance of paying close attention to fractures and bone density in patients with LDS. Osteopenia or osteoporosis may become increasingly important issues as earlier detection and treatment of the vascular complications of LDS improves life expectancy in these patients. © 2010 Wiley‐Liss, Inc.
T2*‐weighted magnetic resonance imaging with hyperoxia in acute ischemic stroke
Authors: Dani Krishna A. , Santosh Celestine , Brennan David , McCabe Christopher , Holmes William M. , Condon Barrie , Hadley Donald M. , Macrae I. Mhairi , Shaw Martin , Muir Keith W. 
Published: March 2010

AbstractObjectiveWe describe the first clinical application of transient hyperoxia (“oxygen challenge”) during T2*‐weighted magnetic resonance imaging (MRI), to detect differences in vascular deoxyhemoglobin between tissue compartments following stroke.MethodsSubjects with acute ischemic stroke were scanned with T2*‐weighted MRI and oxygen challenge. For regions defined as infarct core (diffusion‐weighted imaging lesion) and presumed penumbra (perfusion‐diffusion mismatch [threshold = Tmax ≥4 seconds], or regions exhibiting diffusion lesion expansion at day 3), T2*‐weighted signal intensity–time curves corresponding to the duration of oxygen challenge were generated. From these, the area under the curve, gradient of incline of the signal increase, time to maximum signal, and percentage signal change after oxygen challenge were measured.ResultsWe identified 25 subjects with stroke lesions >1ml. Eighteen subjects with good quality T2*‐weighted signal intensity–time curves in the contralateral hemisphere were analyzed. Curves from the diffusion lesion had a smaller area under the curve, percentage signal change, and gradient of incline, and longer time to maximum signal (p < 0.05, n = 17) compared to normal tissue, which consistently showed signal increase during oxygen challenge. Curves in the presumed penumbral regions (n = 8) showed varied morphology, but at hyperacute time points (<8 hours) showed a tendency to greater percentage signal change.InterpretationDifferences in T2*‐weighted signal intensity–time curves during oxygen challenge in brain regions with different pathophysiological states after stroke are likely to reflect differences in deoxyhemoglobin concentration, and therefore differences in metabolic activity. Despite its underlying complexities, this technique offers a possible novel mode of metabolic imaging in acute stroke. ANN NEUROL 2010;68:37–47
Synthesis and property measurements of polyimides with substituted pyromellitic dianhydride for flexible printed circuits applications
Authors: Choi J. K. , Yoon T. H. 
Published: March 2010

AbstractPyromellitic dianhydride‐based dianhydrides with bulky substituents, such as 1‐phenyl pyromellitic dianhydride and 1‐(4′‐trifluoromethylphenyl)pyromellitic dianhydride, were combined with bis(3‐aminophenyl)phenylphosphine oxide and 4,4′‐phenylene diamine to prepare polyimides with low coefficient of thermal expansion (∼ 17 ppm/°C) and good adhesion (>100 g/mm). The polyimides were synthesized via a conventional two‐step process: preparation of poly(amic‐acid) followed by solution imidization with o‐dichlorobenzene. The molecular weights of the polyimides were controlled to 25,000 g/mol via off‐stoichiometry and the synthesized polyimides were characterized by Fourier transform infrared, nuclear magnetic resonance, differential scanning calorimetry, and thermogravimetric analysis. Their intrinsic viscosity and solubility were also measured, while adhesive property was measured via T‐peel test samples of Cu/polyimide. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Numerical investigation of the effect of screw geometry on the mixing of a viscous polymer melt
Authors: Wang C. , Bussmann M. , Park C. B. 
Published: March 2010

AbstractIn polymer extrusion processing, mixing enhancement is an important consideration when an extruder screw is being designed. There are a variety of mixing elements used in the extrusion industry, with little consensus about what differentiates a good mixing section from a poor one. However, good mixing is important for homogenizing the material structure and temperature profile in the flow channel. This article presents a numerical analysis of the role of screw geometry in mixing in a cooling extruder. Four geometries, typical of those used by the extrusion industry, are assessed by the study of the polymer melt flow and heat transfer in the screw channels. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Direct low‐potential electropolymerization of 9,10‐dihydrophenanthrene in boron trifluoride diethyl etherate
Authors: Nie Guangming , Zhou Liangjie , Zhang Yan , Xu Jingkun 
Published: March 2010

AbstractHigh‐quality poly(9,10‐dihydrophenanthrene) (PPh) with good fluorescence properties was synthesized electrochemically by the direct anodic oxidation of 9,10‐dihydrophenanthrene in boron trifluoride diethyl etherate (BFEE). PPh films obtained from BFEE‐based electrolytes showed good electrochemical behavior and good thermal stability with an electrical conductivity of 2.2 × 10−3 S/cm; this indicated that BFEE was a better medium for the electrosyntheses of PPh films. Dedoped PPh films were soluble in CH2Cl2, dimethylformamide, and dimethyl sulfoxide. The structure and morphology of the polymer were also characterized by ultraviolet–visible spectroscopy, Fourier transform infrared spectroscopy, 1H‐NMR spectroscopy, and scanning electron microscopy, respectively, which indicated the polymerization mainly occurred at the C(2) and C(7) positions. Fluorescent spectral studies indicated that PPh was a good blue‐light emitter. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Solution and quasi‐bulk copolymerizations of styrene and methyl methacrylate in the presence of polybutadiene: Mathematical model
Authors: Gutierrez Carolina , Estenoz Diana A. , Gugliotta Luis M. , Vega Jorge R. , Meira Gregorio R. 
Published: March 2010

AbstractA mathematical model was developed for simulating the batch copolymerization of styrene (St) and methyl methacrylate (MMA) in the presence of polybutadiene (PB). It was adjusted to the measurements of three reactions carried out at 65°C, with initial comonomers ratio at the azeotropic condition, THF as solvent, and benzoyl peroxide as initiator. The measurements included: (a) conversions and grafting efficiencies by gravimetry; (b) molecular weight distributions (MWDs) by size exclusion chromatography; and (c) global mass fractions of St in the co‐ and terpolymer, by UV‐Vis spectroscopy. The model predicts the MWDs of the three polymeric components of MBS: free St‐MMA copolymer, St‐MMA‐g‐PB graft terpolymer (GT), and residual PB. In addition, it predicts the bivariate chain length distributions of the different GT topologies, with each topology characterized by the number of branches per molecule. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
The effect of trimethylol propane tetraacrylate (TMPTA) and organoclay loading on the properties of electron beam irradiated ethylene vinyl acetate (EVA)/natural rubber (SMR L)/organoclay nanocomposites
Authors: Ismail Hanafi , Munusamy Yamuna , Mariatti M. , Ratnam Chantara Thevy 
Published: March 2010

AbstractEthylene vinyl acetate (EVA)/natural rubber (SMR L)/organoclay nanocomposites were prepared by melt blending technique with 0–10 phr organoclay loading and 3 phr TMPTA. Electron beam initiated crosslinking on these samples was carried out using a 3.0 MeV electron beam machine with doses ranging from 50 to 200 kGy. XRD results proved that dispersion of organoclay in the nanocomposites was slightly improved by irradiation with TMPTA. This was further supported by transmission electron microscopy images, where the nanoscale dispersion of organoclay was more homogenous throughout the irradiated polymer matrix compared to nonirradiated samples. TMPTA also increased the gel fraction yield, tensile properties and thermal stability of the irradiated neat EVA/SMR L and its nanocomposites. TMPTA was found to act as a crosslink initiator, which promotes crosslink bridges via free radical mechanism in EVA/SMR L matrix. SEM observation shows that the fracture behavior of the irradiated neat EVA/SMR L and its nanocomposites with TMPTA is significantly different compared to the fracture behavior of the nonirradiated neat EVA/SMR L. The distinct failure surface structure formed in the irradiated samples with TMPTA explains the overall higher value of tensile properties. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Influence of finish treatment on the durability of aramid fibers aged under an alkaline environment
Authors: Derombise Guillaume , Vouyovitch Van Schoors Laëtitia , Messou Marie‐Fleur , Davies Peter 
Published: March 2010

AbstractAramid fibers are high‐performance materials which have been used in ropes and protective clothing for many years. They are also now being proposed in geotextiles for ground reinforcement. The influence of the surface finish composition and content has been studied in the field of cables and textiles, but there is no published data concerning the effect of a finish treatment on the hydrolytic degradation. Aramid fibers with different finish contents have been aged in an alkaline environment. The degradation has been identified by FTIR, viscosimetry, TGA, SEM, and tensile tests. For Technora fibers, the presence of finish appears to limit the tensile strength loss of aramid fibers at pH 11 by limiting abrasion, as well as bulk and surface degradation. For Twaron fibers, higher finish content only has a slight influence on the fibers durability at pH 11 and pH 9, by limiting abrasion and bulk degradation. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
A study toward the physicochemical properties of graft copolymer (partially carboxymethylated guar gum‐g‐N,N′‐dimethylacrylamide): Synthesis and characterization
Authors: Yadav Mithilesh , Sand Arpit , Kumar Mishra Dinesh , Behari Kunj 
Published: March 2010

AbstractUnreported graft copolymer of N,N′‐dimethylacrylamide (DMA) with partially carboxymethylated guar gum (CmgOH) has been synthesized and the reaction conditions have been optimized for affording maximum grafting using a potassium peroxymonosulphate (PMS)/thiourea (TU) redox initiators under nitrogen atmosphere. The study of graft copolymerization has been performed to observe maximum value of grafting parameters except percentage of homopolymer by varying the concentrations of DMA, PMS, and TU. The grafting parameters increase continuously on increasing the concentration of DMA from 8 × 10−2 to 24 × 10−2 mol dm−3, PMS from 5 × 10−3 to 21 × 10−3 mol dm−3, and TU from 1.6 × 10−3 to 4.8 × 10−3 mol dm−3. The optimum temperature and time for grafting of DMA onto CmgOH were found to be 35°C and 120 min, respectively. The water‐swelling capacity of graft copolymer is investigated. Flocculation property for both coking and noncoking coals is studied for the treatment of coal mine waste water. The graft copolymer is characterized by Fourier transform infrared spectroscopy and thermogravimetric analysis. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Controlled radical polymerization of N‐vinylphthalimide using carboxyl‐terminated trithiocarbonate as RAFT agent and preparation of microfibers via electrospinning technique
Authors: Chikhaoui‐Grioune D. , Aqil A. , Zalfen A. M. , Benaboura A. , Jérome C. 
Published: March 2010

AbstractReversible addition‐fragmentation chain transfer (RAFT) polymerization of N‐vinylphthalimide in N,N‐dimethylformamide (DMF) solution was carried out using 2‐carboxypropan‐2‐yl dodecyl trithiocarbonate as a reversible chain transfer agent in the presence of 2,2′‐azobisisobutyronitrile. The molecular weights of the polymers increased linearly with the monomer conversion and the molecular weight distributions were relatively narrow (PDI < 1.2). It is confirmed by chain extension reaction that the polymer prepared via RAFT polymerization can be used as a macro‐RAFT agent. The structure of both polymers was characterized and confirmed by size‐exclusion chromatography and 1H‐NMR techniques. Ultrafine microfibers were prepared by electrospinning of poly(N‐vinylphthalimide) in DMF solution. The effects of electrospinning process parameters such as voltage, tip‐to‐collector distance, and solution concentration on the morphology and the average size of the electrospun fibers were studied. To evaluate the fiber diameters, scanning electron microscope micrographs of the microfibers were performed. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Pongamia glabra seed oil based poly(urethane–fatty amide)
Authors: Kashif Mohammad , Zafar Fahmina , Ahmad S. 
Published: March 2010

AbstractPoly(urethane–fatty amide) (PUPGFA) was developed to use nonedible and nondrying Pongamia glabra seed oil. The resin was synthesized by the reaction of N,N‐bis(2‐hydroxyethyl) P. glabra fatty amide (HEPGFA) and tolylene‐2,4‐diisocyanate through a one‐shot technique with a minimal amount (8–10%) of organic solvent. The structural elucidation of the resin was carried out by Fourier transform infrared (FTIR), 1H‐NMR, and 13C‐NMR spectroscopic techniques, whereas the curing mechanism was confirmed by FTIR spectroscopy and differential scanning calorimetry. The solubility of the resin was studied in different polar and nonpolar solvents. Thermal analysis was carried out by thermogravimetric analysis and differential thermal analysis techniques. Antibacterial studies of HEPGFA and PUPGFA were performed in the presence of Gram‐negative Salmonella and Gram‐positive Staphylococcus aureus bacteria by an agar diffusion method. Physicochemical, physicomechanical, and corrosion‐resistance tests were performed by standard laboratory methods. PUPGFA had good physicomechanical properties, excellent chemical/corrosion resistance, and moderate antibacterial activities. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Comparison between crosslink densities derived from stress–strain data and theoretically data evaluated through the α‐model approach for a polyurethane network system based on hydroxyl terminated polybutadiene and isophorone‐diisocyanate
Authors: Sekkar V. 
Published: March 2010

AbstractThe crosslink density (CLD) for polyurethane elastomeric networks based on hydroxyl terminated polybutadiene and isophorone‐diisocyanate was theoretically calculated with α‐model equations the employing the functionality distribution and extent of reaction as input parameters. The theoretical crosslink density (νt) was compared with the CLD values computed from stress–strain data evaluated at various strain rates. The methods for the calculation of the CLD from stress–strain data were based on the Mooney–Rivlin and Young's modulus approaches. Theoretical stress–strain curves were generated on the basis of νt conforming to both phantom and affine model calculations. The experimental stress–strain plots aligned more closely to the affine model line. The deviation of the experimentally derived stress–strain curves from the theoretical affine curve was probably due to the presence of temporarily trapped physical entanglements. From the stress–strain data, the concentrations of true chemical crosslinks and physical entanglements were estimated individually. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
In situ SEM study of fatigue crack growth mechanism in carbon black‐filled natural rubber
Authors: Beurrot Stéphanie , Huneau Bertrand , Verron Erwan 
Published: March 2010

AbstractA micro‐tensile testing machine placed in the chamber of a scanning electron microscope is used to perform in situ fatigue tests on a 43 phr carbon black‐filled cis‐1,4‐polyisoprene rubber; the crack tip is observed in real‐time during crack propagation. These observations lead to a detailed description of the crack tip morphology; the crack front is a regular pattern of diamond‐shaped zones delimited by extended straight ligaments. Fatigue crack growth is driven by the ligaments breakage, which occurs in all the zones of the crack front surface continuously in time but at different velocities. This phenomenon of nonlocalized damage explains initiation and limited propagation of branches which deviate from the main crack. All those mechanisms are sources of energy dissipation which explains the great fatigue properties of NR. Finally, from similar experiments conducted on styrene butadiene rubber, it is established that the peculiar morphology of the crack tip and mechanism of crack propagation in NR are due to strain‐induced crystallization. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010