bluuebunny/crossref_metadata_2025_split huggingface dataset:
Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos
Authors: Zenteno Juan Carlos , Buentello‐Volante Beatriz , Ayala‐Ramirez Raul , Villanueva‐Mendoza Cristina 
Published: April 2011

AbstractThe association of retinitis pigmentosa (RP) and microphthalmia has been reported in a number of familial and isolated cases. Here, the results of genetic analysis in a familial case of early RP associated with nanophthalmos are described. Two affected sibs were ascertained from an endogamous population in Mexico. A genome‐wide linkage analysis was performed by means of an Affymetrix 250K microarray. Five large regions of homozygosity were demonstrated. The largest interval comprised 15.08 Mb at chromosome 1q31–32.1 and contained the Crumbs homologue‐1, CRB1, a gene responsible for a number of recessive retinal dystrophies. Nucleotide sequence analysis demonstrated a c.1125C>G transversion in CRB1 exon 5, predicting a novel p.Tyr375X variant. To our knowledge this is the first instance in which a CRB1 mutation has been associated with early RP and nanophthalmos. Our results suggest a role for CRB1 in promoting axial growth of the eye. Clinical analysis of additional subjects with retinal dystrophies due to CRB1 mutations will help to identify if the high hyperopia, a frequently observed trait in these subjects, could be related to decreased eye axial length (nanophthalmos). © 2011 Wiley‐Liss, Inc.
In‐frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males
Authors: Parrini Elena , Rivas Isabel Llano , Toral Joaquin Fernandez , Pucatti Daniela , Giglio Sabrina , Mei Davide , Guerrini Renzo 
Published: April 2011

AbstractPeriventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Truncating and missense mutations of the FLNA gene have been identified in almost 100% of families and 26% of sporadic patients with PH. The otopalatodigital syndrome spectrum is caused by distinct FLNA missense mutations or in‐frame deletions disrupting the development of craniofacial and long bones. We report on a clinical, neuroimaging, X‐ray, and molecular study of a family in which classical bilateral PH appeared as an isolated anatomic feature in the mother and was associated with skeletal abnormalities and facial dysmorphisms in her two sons. Both boys exhibited PH associated with flat face and spatulate finger tips, short broad phalanx and metacarpus, and bowed radius with dislocated wrist joints. All three patients harbored the c.7865_7870del in‐frame deletion (p.2622_2623delDK) in the carboxyl‐terminal domain (repeat 24) of FLNA. The X‐inactivation observed in the mother was skewed towards the mutant allele, resulting in the preferential expression of the wild‐type allele. The in‐frame deletion in the carboxyl‐terminal domain of FLNA caused a phenotype in which PH was associated with skeletal features suggestive of the otopalatodigital syndrome spectrum in boys. There appears to be a continuum among allelic disorders due to FLNA mutations. © 2011 Wiley‐Liss, Inc.
Co‐occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature
Authors: Smigiel Robert , Jakubiak Aleksandra , Lombardi Maria Paola , Jaworski Wojciech , Slezak Ryszard , Patkowski Dariusz , Hennekam Raoul C. 
Published: April 2011

AbstractGoltz–Gorlin syndrome is a highly variable disorder affecting many body parts of meso‐ectodermal origin. Mutations in X‐linked PORCN have been identified in almost all patients with a classical Goltz–Gorlin phenotype. The pentalogy of Cantrell is an infrequently described congenital disorder characterized by the combination of five anomalies: a midline supra‐umbilical abdominal wall defect; absent or cleft lower part of the sternum; deficiency of the diaphragmatic pericardium; deficiency of the anterior diaphragm; and congenital heart anomalies. Etiology and pathogenesis are unknown. We report on an infant with findings fitting both Goltz–Gorlin syndrome (sparse hair; anophthalmia; clefting; bifid nose; irregular vermillion of both lips; asymmetrical limb malformations; caudal appendage; linear aplastic skin defects; unilateral hearing loss) and the pentalogy of Cantrell (absent lower sternum; anterior diaphragmatic hernia; ectopia cordis; omphalocele). The clinical diagnosis Goltz–Gorlin syndrome was confirmed molecularly by a point mutation in PORCN (c.727C>T). The presence of molecularly confirmed Goltz–Gorlin syndrome and pentalogy of Cantrell in a single patient has been reported twice before. The present patient confirms that the pentalogy of Cantrell can be caused in some patients by a PORCN mutation. It remains at present uncertain whether this can be explained by the type or localization of the mutation within PORCN, or whether the co‐occurrence of the two entities is additionally determined by mutations or polymorphisms in other genes, environmental factors, and/or epigenetic influences. © 2011 Wiley‐Liss, Inc.
The Richieri‐Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature
Authors: Souza Josiane , dal Vesco Karin , Tonocchi Rita , Closs‐Ono Maria Cecília , Passos‐Bueno Maria Rita , da Silva‐Freitas Renato 
Published: April 2011

AbstractRichieri‐Costa and Pereira syndrome is a rare autosomal recessive disorder characterized specially by Pierre Robin sequence with cleft mandible and limb anomalies. There are a typical laryngeal anomaly which encompass short and round larynx, absent or abnormal epiglottis, and abnormal aryepiglottic folds. Most patients reported were from Brazil. We describe a brother and sister with Richieri‐Costa and Pereira syndrome on another Brazilian family documenting their physical findings and laryngeal defects. We also review the literature and discuss the main clinical characteristics and etiology. © 2011 Wiley‐Liss, Inc.
Smoking and endoscopic sinus surgery: does smoking volume contribute to clinical outcome?
Authors: Rudmik Luke , Mace Jess C. , Smith Timothy L. 
Published: April 2011

AbstractBackgroundThe effect of tobacco smoking on chronic rhinosinusitis (CRS) is not yet well‐delineated. The purpose of this investigation was to evaluate the overall effect of smoking on postoperative outcomes (endoscopic score and health‐related quality‐of‐life [HRQoL]) after endoscopic sinus surgery (ESS) for CRS and to determine if volume of daily smoking impacts outcomes.MethodsA total of 784 patients with CRS were prospectively enrolled between January 2001 and April 2009 after electing ESS from 1 of 3 academic tertiary care centers. Follow‐up longer than 6 months was available on 39 smoking patients. Smoking volume (cigarettes/day) analysis was performed by dichotomizing patients into either of 2 subgroups: light smokers (<20 cigarettes per day) or heavy smokers (≥20 cigarettes per day). Primary outcomes were Lund‐Kennedy endoscopy scores and 2 disease‐specific HRQoL instruments: the Rhinosinusitis Disability Index (RSDI) and Chronic Sinusitis Survey (CSS).ResultsSmokers and nonsmokers experienced similar improvement in HRQoL following surgery (RSDI: p = 0.792 and CSS: p = 0.117). No difference in HRQoL improvements between light smokers and heavy smokers was identified. While overall changes in endoscopy scores did not differ between smokers and nonsmokers, there was a significant difference in the prevalence of worsening postoperative endoscopy scores between heavy smokers, light smokers, and nonsmokers (100%, 33%, and 20%, respectively; p = 0.002).ConclusionActive smoking status does not alter postoperative improvement in HRQoL after ESS. Although limited by a small sample size, increasing smoking volume may contribute to worse postoperative endoscopy scores. © 2011 ARS‐AAOA, LLC.
Reversal of coherent‐state spins in square magnetic nanodots induced by a magnetic microwave field
Authors: Peng F. , Hui D. 
Published: April 2011

AbstractWe study the coherent state excitation of spins in square nanodots induced by a magnetic microwave field. We present a new mechanism of spin reversal in nanodots. That is, the microwave field directly induces the reversal of the coherent‐state spins instead of indirectly through the magnetic vortex. We obtain the space distribution of coherent‐state spins in terms of a quantum theory, and calculate the time of spin reversal. This spin‐reversal process may be used to serve as a storage mechanism of binary information.
Dependence of the dielectric constant on the fluorine content and porosity of polyimides
Authors: Othman Muhammad Bisyrul Hafi , Ming Nicholas Ang Soon , Akil Hazizan Md , Ahmad Zulkifli 
Published: April 2011

AbstractThe trend toward miniaturization in integrated circuit fabrication demands good interlayer dielectric materials. This need can be met by polyimide (PI), which has extreme thermal and chemical stability and, most importantly, a low dielectric constant. Four porous PIs with symmetrically substituted fluorine contents were synthesized. Different porosity levels were achieved with a sol–gel technique through the incorporation of 10 or 20% tetraethyl orthosilicate into the polymer matrix and then acid etching. Their dielectric constants were correlated with the fluorine contents and porosity levels. High porosity levels and higher fluorine contents induced substantial decreases in the PI dielectric constants (2.4–2.7). The resultant values were within the applicable range for dielectric materials in integrated circuits. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
A new Schiff base epoxy oligomer resin: Synthesis, characterization, and thermal decomposition kinetics
Authors: Kaya İsmet , Doğan Fatih , Gül Murat 
Published: April 2011

AbstractOligo{2,2′‐{1,4‐phenylenebis[nitrilomethylylidene]}bis(6‐methoxyphenol)} (OPNMMP) was synthesized from o‐vanillin and p‐phenylene diamine by oxidative polycondensation with NaOCl in an aqueous alkaline. Then, a new Schiff Base epoxy oligomer resin, OPNMMP–epichlorohydrine (EPC), was produced with EPC. The structures of the resulting compounds were confirmed by Fourier transform infrared spectroscopy, ultraviolet–visible spectroscopy, 1H‐NMR, and 13C‐NMR. Further characterization processes were preformed by thermogravimetry (TG)–differential thermal analysis, gel permeation chromatography, and solubility testing. Also, the kinetics of the thermal decomposition of OPNMMP–EPC were investigated by thermogravimetric analysis. The TG curves showed that the thermal decomposition of OPNMMP–EPC occurred in one stage. The kinetic parameters related to the decomposition kinetics of OPNMMP–EPC were obtained from TG curves with the following methods: Friedman, Flynn–Wall–Ozawa, Kissinger, invariant kinetic parameter, and Coats–Redfern (CR), under an N2 dynamic atmosphere and different heating rates (5, 10, 15, and 20°C/min). The mechanism function and pre‐exponential factor were also determined by a master plots method. The apparent activation energies of the thermal decomposition were calculated from these methods for OPNMMP–EPC. The analysis of the results obtained by the CR and master plots methods showed that the decomposition mechanism of OPNMMP–EPC in N2 was a deceleration‐type mechanism. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Synthesis and swelling properties of new crosslinked polyorthocarbonates
Authors: Karadag Koksal , Onaran Gulsah , Sonmez Hayal Bulbul 
Published: April 2011

AbstractCrosslinked polyorthocarbonates were synthesized by the condensation of tetraethyl orthocarbonate and hydroxyl functional monomers. The main goal of this study was to produce a solvent‐absorbent polymer with a high absorption capacity and to use these polymers for the removal of organic solvents from the environment and the recovery of these solvents. The synthesized polymers were characterized by Fourier transform infrared spectroscopy, solid‐state 13C‐NMR spectroscopy, thermogravimetric analysis, and differential scanning calorimetry. All of the polymers (except Poly 1 and Poly 2) had a high and fast uptake ability for organic solvents, such as tetrahydrofuran, dichloromethane, benzene, and acetone. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Synthesis and properties of crystalline dicarboxylated poly(L‐lactic acid) prepolymers
Authors: Sun Xiangying , Wu Linbo 
Published: April 2011

AbstractCrystalline dicarboxylated poly(L‐lactic acid)s (dcPLLAs) with number‐average molecular weights (Mn's) of 103 to 104 g/mol were synthesized via the melt polycondensation of L‐lactic acid (LLA) in the presence of succinic anhydride (SAD), with tin(II) chloride and toluene‐4‐sulfonic acid as binary catalysts. They were characterized by end‐group titration, 1H‐NMR, differential scanning calorimetry, and wide‐angle X‐ray diffraction. The terminal COOH percentage reached over 98%, and the molecular weight could be controlled by the molar ratio of LLA to SAD. The thermal behaviors depended on the molecular weight. The poly(L‐lactic acid)s (PLLAs) crystallized slowly for Mn ≤ 2000 but quickly for Mn ≥ 4000. The crystallinity increased from 27 to 40% when Mn grew from 4000 to 10,000. With comparison to ordinary PLLA, the dcPLLA had the same crystallization structure but a slightly lower crystallizability. The glass‐transition temperature was clearly higher than that of amorphous dcPLLAs. With a controllable molecular weight, high COOH percentage, and crystallinity, the dcPLLA with Mn ≥ 4000 appeared to be a suitable prepolymer for the preparation of high‐molecular‐weight crystalline PLLA via chain extension. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Biodegradable polyurethanes: Comparative study of electrospun scaffolds and films
Authors: Caracciolo Pablo C. , Buffa Fabián , Thomas Vinoy , Vohra Yogesh K. , Abraham Gustavo A. 
Published: April 2011

AbstractThe development of elastomeric, bioresorbable, and biocompatible segmented polyurethanes (SPUs) for use in tissue‐engineering applications has attracted considerable interest in recent years. In this work, nonporous films and microfiber/nanofiber scaffolds, which were prepared from two different poly(ϵ‐caprolactone)‐based SPUs previously synthesized from 1,6‐hexamethylene diisocyanate and novel chain extenders containing urea groups or an aromatic amino acid derivative, were studied. Their thermal properties were influenced by both the different chemical structures of the hard segments and the processing conditions. The mechanical properties of the scaffolds (the elastic modulus, ultimate strain, and tensile stress) were adequate for engineered soft‐tissue constructs (e.g., myocardial tissue). The film samples displayed a low swelling degree (<2 wt %) in a phosphate‐buffered solution at 37°C. The introduction of the amino acid derivative chain extender with hydrolyzable ester bonds contributed to greater degradation. The fibrous scaffolds exhibited higher hydrolytic stability than the films after short assay times because of their more crystalline structures and higher degrees of association by hydrogen bonding, but they also experienced higher mass losses under accelerated conditions (70°C). This suggested that the degradation rate was not constant but depended on the degradation time and the processing technique. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Attaining optimal dyeability and tensile properties of polypropylene/poly(ethylene terephthalate) blends with a special cubic mixture experimental design
Authors: Mirjalili Fereshteh , Moradian Siamak , Ameri Farhad 
Published: April 2011

AbstractIn this investigation, we attempted to enhance the dyeability of polypropylene (PP) with disperse dyestuffs without adversely affecting its tensile properties. To this end, a special cubic experimental design was used to predict the effect of variations in the properties of a tricomponent mixture composed of PP, poly(ethylene terephthalate) (PET), and maleic anhydride grafted polypropylene (PP‐g‐MA) on the dyeability and tensile properties of the resultant polymer blend. The results illustrate that there seemed to be critical PET content, above which the blend's dye uptake tended to remain constant, but the tensile properties were adversely affected. Further analysis of the results indicated that the PP/PET/PP‐g‐MA blends in which the PET and PP‐g‐MA contents were in the range 10–15 and 4–5 wt %, respectively, gave maximal dye uptake and desirable tensile properties. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Poly(L‐lactide)/polypropylene blends: Evaluation of mechanical, thermal, and morphological characteristics
Authors: Choudhary Priyanka , Mohanty Smita , Nayak Sanjay K. , Unnikrishnan Lakshmi 
Published: April 2011

AbstractPoly(Llactide) (PLA) was blended with polypropylene (PP) at various ratios (PLA:PP = 90 : 10, 80 : 20, 70 : 30, and 50 : 50) with a melt‐blending technique in an attempt to improve the melt processability of PLA. Maleic anhydride (MAH)‐grafted PP and glycidyl methacrylate were used as the reactive compatibilizers to induce miscibility in the blend. The PLA/PP blend at a blend ratio of 90 : 10, exhibited optimum mechanical performance. Differential scanning calorimetry and thermogravimetric analysis studies showed that the PLA/PP/MAH‐g‐PP blend had the maximum thermal stability with the support of the heat deflection temperature values. Furthermore, dynamic mechanical analysis findings revealed an increase in the glass‐transition temperature and storage modulus with the addition of MAH‐g‐PP compatibilizer. The interaction between the compatibilizers and constituent polymers was confirmed from Fourier transform infrared spectra, and scanning electron microscopy of impact‐fractured samples showed that the soft PP phase was dispersed within the PLA matrix, and a decrease in the domain size of the dispersed phase was observed with the incorporation of MAH‐g‐PP, which acted as a compatibilizer to improve the compatibility between PLA and PP. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Miscibility and thermal behavior of poly(vinyl chloride)/feather keratin blends
Authors: Akhlaghi Shahin , Sharif Alireza , Kalaee Mohammadreza , Manafi Mohammadreza 
Published: April 2011

AbstractVarious poly(vinyl chloride) (PVC)/feather keratin (FK) blends were prepared via a solution blending method in the presence of N,N‐dimethylformamide as a solvent. The miscibility of the blends was studied with different analytical methods, such as dilute solution viscometry, differential scanning calorimetry, refractometry, and atomic force microscopy. According to the results obtained from these techniques, it was concluded that the PVC/FK blend was miscible in all the studied compositions. Specific interactions between carbonyl groups of the FK structure and hydrogen from the chlorine‐containing carbon of the PVC were found to be responsible for the observed miscibility on the basis of Fourier transform infrared spectroscopy. Furthermore, increasing the FK content in the blends resulted in their miscibility enhancement. The thermal stability of the samples, as an important characteristic of biobased polymer blends, was finally examined in terms of their FK weight percentage and application temperature. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Synthesis, characterization and use of polymer‐supported phase transfer catalyst in organic reactions
Authors: Kaur Inderjeet , Kumari Vandna , Dhiman Poonam K. 
Published: April 2011

AbstractA polymer‐supported (PS) phase transfer catalyst, polyethylene‐g‐quaternary ammonium salt (PE‐g‐QN+), is prepared through a three‐step graft copolymerization of maleic anhydride (MAn) onto polyethylene (PE) by photochemical method using 1% benzophenone (Bz) as photosensitizer. Post grafted acid hydrolysis of polyethylene‐g‐maleic anhydride (PE‐g‐MAn) results in the preparation of PE‐g‐succinic acid which on further treatment with tetrabutylammonium bromide (TBAB) under basic conditions in tetrahydrofuran (THF) gives PE‐g‐QN+. Optimum conditions pertaining to maximum percentage of grafting have been evaluated as a function of concentration of maleic anhydride, amount of photosensitizer, and time of reaction. Maximum percentage of grafting (25%) was obtained using 3.57 mol of MAn and 0.5 mL of 1% Bz in 120 min. The PE and graft copolymers, PE‐g‐MAn, and PE‐g‐QN+ were characterized by FTIR Spectroscopy and thermogravimetric analysis (TGA). The ionic nature of quaternary ammonium salt, PE‐g‐QN+ has also been confirmed by conductance measurements. PE‐g‐QN+ reagent have been used successfully for polymerization, amidation, and esterification reactions. The products obtained were characterized by FTIR and H1NMR spectral methods. The reagent was reused for the further reactions and it was observed that the polymeric reagent polymerize, amidate, and esterificate the compounds successfully but with little lower product yield. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Effects of the structural components on slow crack growth process in polyethylene blends. Composition intervals prediction for pipe applications
Authors: García Rafael A. , Carrero A. , Martín C. , Domínguez C. 
Published: April 2011

AbstractA linear low density polyethylene (LLDPE) obtained from a metallocene based catalyst, was blended in an extruder with a high density polyethylene (HDPE) homopolymer synthesized with an iron based catalyst. The bimodal polyethylenes, made with blends from 0 to 100 wt % of copolymer were characterized by SEC, DSC, ESEM, SEC‐FTIR, and TREF, while their resistance to the slow crack growth (SCG) was evaluated through the PENT test. Results provide that polymer blends with copolymer contents between 47.5 and 72.5 wt % are suitable for pipe applications. Furthermore, a method based on the intercrystalline tie chains calculus is proposed as suitable and attractive, because of its simplicity and novelty, to forecast long term performance and to predict capabilities. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
DSC study of foamable poly (vinyl chloride‐co‐vinyl acetate) plastisols of different commercial plasticizers
Authors: Zoller Agnes , Marcilla Antonio 
Published: April 2011

AbstractIn this article the characterization of the thermal behavior of foamable PVC (Poly (vinyl chloride)) plastisols from 20 different plasticizers has been studied by differential scanning calorimetry (DSC). The interactions between the resin and the plasticizer as well as the decomposition of the azodicarbonamide (ADC)—the chemical blowing agent (CBA) used—have been analyzed. The latter process is of crucial importance for the knowledge of plasticized PVC flexible foam formation. Clear effects of the chemical nature of the plasticizers and their molecular weight (Mw) have been observed, both in the interactions (swelling and early stages of gelation) between the resin and the plasticizer, as well as in the temperature of the ADC decomposition and the shape of the DSC peak. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011