bluuebunny/crossref_metadata_2025_split huggingface dataset:
A re‐examination of the use of ethnicity in prenatal carrier testing
Authors: Ross Lainie Friedman 
Published: November 2011

AbstractIn April 2011, the American Congress of Obstetricians and Gynecologists (formerly the American College of Obstetrics and Gynecology [ACOG]), updated its policy on carrier screening for cystic fibrosis and proposed that because of the increasing difficulty in assigning a single ethnicity to individuals, “It is reasonable, therefore to offer CF carrier screening to all patients.” However, ACOG continues to use ethnicity in its guidelines about carrier testing for autosomal recessive disorders like sickle cell disease (SCD) and Tay‐Sachs disease (TSD). This practice is in marked contrast with newborn screening (NBS) which is universally provided for all conditions. In this manuscript, I evaluate the discrepant role of ethnicity in NBS and carrier screening. I argue that ACOG needs to adopt the position it now takes for CF regarding prenatal carrier testing for all conditions. To promote equity in prenatal testing decision making, health care policies must acknowledge the diversity of the populations that we serve and empower all women and couples to make more fully informed reproductive decisions by offering prenatal carrier testing to all. © 2011 Wiley Periodicals, Inc.
Renal anomalies in Alagille syndrome: A disease‐defining feature
Authors: Kamath Binita M. , Podkameni Gisele , Hutchinson Anne L. , Leonard Laura D. , Gerfen Jennifer , Krantz Ian D. , Piccoli David A. , Spinner Nancy B. , Loomes Kathleen M. , Meyers Kevin 
Published: November 2011

AbstractAlagille syndrome (ALGS) is an autosomal dominant condition, primarily caused by mutations in JAGGED1. ALGS is defined by cholestatic liver disease, cardiac disease and involvement of the face, skeleton, and eyes with variable expression of these features. Renal involvement has been reported though not formally described. The objective of this study was to systematically characterize the renal involvement in ALGS. We performed a retrospective review of 466 JAGGED1 mutation‐positive ALGS patients. Charts were reviewed for serum biochemistries, renal ultrasounds or other imaging, urinalysis, and clinical reports from pediatric nephrologists. The clinical data were reviewed by two pediatric hepatologists and a pediatric nephrologist. Of 466 charts reviewed we found 187 yielded evaluable renal information. Of these, 73/187 were shown to have renal involvement, representing 39% of the study cohort. Renal dysplasia was the most common anomaly seen. Genotype analysis of the JAGGED1 mutations in the patients with and without renal involvement did not reveal an association with mutation type. From the study we concluded that renal involvement has a prevalence of 39% in ALGS in our evaluable patients. Renal dysplasia is the most common renal anomaly. This finding correlates with the known role of the Notch pathway in glomerular development. Since renal disease of the type seen in ALGS can impair growth and impact liver transplantation, there is a clear need for a prospective study of renal involvement in ALGS and the development of guidelines for evaluation and management. These data also suggest that renal involvement be considered the sixth defining criterion for ALGS. © 2011 Wiley Periodicals, Inc.
Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases
Authors: Sohn Young Bae , Choi Eun Wha , Kim Su Jin , Park Sung Won , Kim Se‐Hwa , Cho Sung‐Yoon , Jeong Soo In , Huh June , Kang I‐Seok , Lee Heung Jae , Paik Kyung‐Hoon , Jin Dong‐Kyu 
Published: November 2011

AbstractHunter syndrome (mucopolysaccharidosis II, MPS II) is a rare, X‐linked disorder of glycosaminoglycan (GAG) catabolism caused by a deficiency in the activity of the lysosomal enzyme, iduronate‐2‐sulfatase (I2S). In this study, the medical records of 75 Korean patients with Hunter syndrome (74 males, 1 female) were retrospectively reviewed to investigate the frequency of organ involvement and survival at a single center. The three most common symptoms of organ involvement were hepatosplenomegaly (99%), facial dysmorphism (97%), and frequent otitis media (91%). Cardiovascular involvement was also common including valvular abnormalities (89%), left ventricular hypertrophy (68%), and hypertension (30%). The 19 patients who died had a median age of 16.8 years at the time of death. Four of them died within 1 year of the start of enzyme replacement therapy; autopsy showed myocardial infarction with severe coronary artery disease in one patient. Two other patients died due to pneumonia and sleep apnea. In one case, the cause of death was not investigated. The high incidence of hypertension, and the presence of valvular heart disease indicates that close cardiac monitoring is mandatory in all patients with Hunter syndrome, especially relatively older patients even if they are being treated with enzyme replacement therapy. © 2011 Wiley Periodicals, Inc.
Duplication of the ZIC2 gene is not associated with holoprosencephaly
Authors: Jobanputra Vaidehi , Burke Alanna , Kwame Anyane‐Yeboa , Shanmugham Anita , Shirazi Maryam , Brown Stephen , Warburton Peter E. , Levy Brynn , Warburton Dorothy 
Published: November 2011

AbstractCytogenetic testing using genomic microarrays presents a clinical challenge when data regarding the phenotypic consequences of the genomic alteration are not available. We describe a chromosome 13q32.3 duplication discovered by microarray testing in a fetus with a prenatally detected apparently balanced de novo translocation 46,XY,t(2;13)(q37;q32). Microarray analysis on the fetal DNA showed duplications of 384 and 564 kb at the breakpoint regions on chromosomes 2q37.3 and 13q32.3, respectively. There were no disease‐associated genes in the duplicated region on chromosome 2q37. The duplicated region on chromosome 13q contains the ZIC2 gene. Haploinsufficiency of ZIC2 is known to cause holoprosencephaly and other brain malformations. Studies in the mouse models have suggested that over expression of ZIC2 may also lead to brain malformations. Fetal MRI of the brain was normal and the family elected to continue the pregnancy. An apparently normal baby was born at term. At 3 months of age a physical exam showed no abnormalities and no developmental delay. This report shows that duplication of ZIC2 is not necessarily associated with brain malformations. We also describe the phenotype from four additional patients with duplications of the region of chromosome 13 containing ZIC2 and three previously described patients with supernumerary marker chromosomes derived from distal chromosome 13. None of the eight patients had holoprosencephaly or brain malformations, indicating that duplication of ZIC2 is not associated with brain anomalies. This information will be useful for counseling in other occurrences of this duplication identified by microarray. © 2011 Wiley Periodicals, Inc.
Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis
Authors: Smith Miriam J. , Kulkarni Anjana , Rustad Cecilie , Bowers Naomi L. , Wallace Andrew J. , Holder Susan E. , Heiberg Arvid , Ramsden Richard T. , Evans D. Gareth 
Published: November 2011

AbstractSchwannomatosis is a recently delineated inherited condition that has clinical overlap with neurofibromatosis type 2 (NF2). Diagnostic criteria have been developed to distinguish schwannomatosis from NF2, but the existence of mosaic NF2, which may closely mimic schwannomatosis, makes even these criteria problematic. In particular, it is not clear why there is a relative sparing of the cranial nerves from schwannomas in schwannomatosis. We have identified two individuals with schwannomatosis and a unilateral vestibular schwannoma (VS), where a diagnosis of NF2 has been excluded. A third case with an identified SMARCB1 mutation was reported by two radiologists to have a VS, but this was later confirmed as a jugular schwannoma. These cases question whether the current exclusion of a VS from the clinical diagnosis of schwannomatosis is justified. © 2011 Wiley Periodicals, Inc.
Terpene Biosynthesis: Modularity Rules
Authors: Oldfield Eric , Lin Fu‐Yang 
Published: November 2011

AbstractTerpenes are the largest class of small‐molecule natural products on earth, and the most abundant by mass. Here, we summarize recent developments in elucidating the structure and function of the proteins involved in their biosynthesis. There are six main building blocks or modules (α, β, γ, δ, ε, and ζ) that make up the structures of these enzymes: the αα and αδ head‐to‐tail trans‐prenyl transferases that produce trans‐isoprenoid diphosphates from C5 precursors; the ε head‐to‐head prenyl transferases that convert these diphosphates into the tri‐ and tetraterpene precursors of sterols, hopanoids, and carotenoids; the βγ di‐ and triterpene synthases; the ζ head‐to‐tail cis‐prenyl transferases that produce the cis‐isoprenoid diphosphates involved in bacterial cell wall biosynthesis; and finally the α, αβ, and αβγ terpene synthases that produce plant terpenes, with many of these modular enzymes having originated from ancestral α and β domain proteins. We also review progress in determining the structure and function of the two 4Fe‐4S reductases involved in formation of the C5 diphosphates in many bacteria, where again, highly modular structures are found.
Synthesis and characterization of novel core‐shell magnetic nanogels based on 2‐acrylamido‐2‐methylpropane sulfonic acid in aqueous media
Authors: Atta Ayman M. 
Published: November 2011

AbstractUltrafine well‐dispersed Fe3O4 magnetic nanoparticles were directly prepared in aqueous solution using controlled coprecipitation method. The synthesis of Fe3O4/poly (2‐acrylamido‐2‐methylpropane sulfonic acid) (PAMPS), Fe3O4/poly (acrylamide‐co‐2‐acrylamido‐2‐methylpropane sulfonic acid) poly(AM‐co‐AMPS) and Fe3O4/poly (acrylic acid‐co‐2‐acrylamido‐2‐methylpropane sulfonic acid) poly(AA‐co‐AMPS) ‐core/shell nanogels are reported. The nanogels were prepared via crosslinking copolymerization of 2‐acrylamido‐2‐methylpropane sulfonic acid, acrylamide and acrylic acid monomers in the presence of Fe3O4 nanoparticles, N,N′‐methylenebisacrylamide (MBA) as a crosslinker, N,N,N′,N′‐tetramethylethylenediamine (TEMED) and potassium peroxydisulfate (KPS) as redox initiator system. The results of FTIR and 1H‐NMR spectra indicated that the compositions of the prepared nanogels are consistent with the designed structure. X‐ray powder diffraction (XRD) and transmission electron microscope (TEM) measurements were used to determine the size of both magnetite and stabilized polymer coated magnetite nanoparticles. The data showed that the mean particle size of synthesized magnetite (Fe3O4) nanoparticles was about 10 nm. The diameter of the stabilized polymer coated Fe3O4 nanogels ranged from 50 to 250 nm based on polymer type. TEM micrographs proved that nanogels possess the spherical morphology before and after swelling. These nanogels exhibited pH‐induced phase transition due to protonation of AMPS copolymer chains. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Thermal properties and adhesion strength of amorphous poly(α‐olefins)/styrene–ethylene–butylene copolymer/terpene hot‐melt adhesive
Authors: Kim Jae‐Ho , Kim Ho‐Gyum , Lim Jeoung‐Cheol , Cho Kwang‐Soo , Min Kyung‐Eun 
Published: November 2011

AbstractThe thermal stability and adhesion properties, such as lap‐shear strength of hot‐melt adhesives were obtained from amorphous poly(α‐olefins) and thermoplastic rubber [styrene–ethylene–butylene copolymer (SEBS)] blends. The addition of SEBS increased the toughness and viscosity and decreased the lap‐shear strength of the hot‐melt adhesive. Terpene tackifier resin offered enhanced lap‐shear strength; this was more effective when combined tackifier resin was added on the hot‐melt adhesive. Only a small amount of wax and antioxidant affected the thermal stability and lap‐shear strength of the hot‐melt adhesive. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Development of electroless silver plating on Para‐aramid fibers and growth morphology of silver deposits
Authors: Zhang Huiru , Zou Xinguo , Liang Jingjing , Ma Xiao , Tang Zhiyong , Sun Jinliang 
Published: November 2011

AbstractThe development of a conductive fiber with flame resistance is an urgent concern particularly in national defense and other specialized fields. Aramid fibers (para‐ or meta‐) exihibit high strength and excellent fire resistance. Electroless silver plating on para‐aramid fibers and growth morphology of silver deposits was investigated in the present work. The surface of para‐aramid fibers was roughened using sodium hydride/dimethyl sulfoxide to guarantee successful electroless plating. Two complexing agents (ethylene diamine/ammonia) and two reducing agents (glucose/seignette salt) were used for the electroless silver plating bath design. Structure and properties of the resulting silver‐deposited para‐aramid fibers were evaluated based on scanning electron microscopy, silver weight gain percentage calculation, electrical resistance measurement, crystal structure analysis, and mechanical properties test. The results showed that a higher silver weight gain was advantageous to the improvement of conductivity for the silver‐deposited para‐aramid fibers. The obtained silver deposit was homogenous and compact. Electroless silver‐plating deposits were considered to be three‐dimensional nucleation and growth model (Volmer–Weber). Black, silver gray, and white deposits appeared sequentially with progressive plating. The breaking strength of silver‐deposited para‐aramid fibers remained at value up to 44 N. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Thermal and mechanical properties of chitosan reinforced polyhydroxybutyrate composites
Authors: Rajan Rathish , Sreekumar P. A. , Joseph Kuruvilla , Skrifvars Mikael 
Published: November 2011

AbstractThe article reports the results of studies on the effect of chitosan (0, 5, 10, 20, 30, and 40 wt %) on thermal and mechanical properties of poly(hydroxybutyrate) composites. The addition of chitosan causes an increase in the glass transition temperature (Tg) while a decrease in the enthalpy of fusion (ΔHfus), crystallization (ΔHcry) and percentage of crystallinity as determined by differential scanning calorimeter (DSC). The thermogravimetric analysis reveals that high amount of chitosan decreases the thermal stability of the composites. The Young's modulus of the composite increases and is high for the composite having 40 wt % of chitosan. Increase in the amount of chitosan decreases the elongation at break and impact strength of composites. Finally, the Young's modulus of the composites has been compared with the theoretical predictions. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Evolution of aggregation structure of polyacrylonitrile fibers in the cyclization reaction
Authors: Wang Bin , Xiao Shijie , Cao Weiyu , Shi Xin , Xu Lianghua 
Published: November 2011

AbstractThe aggregation structure of polyacrylonitrile precursor evolves gradually with progress of cyclization. In this work, the variety of cyclization degrees were determined by Fourier transform infrared spectroscopy and the evolution of aggregation structure of PAN fibers were characterized by wide‐angle X‐ray diffraction. Experimental results showed that the cyclization occurred first in the amorphous parts when the heating temperature was below 200°C. After heated at 200°C for 30 min, molecular chains in the pseudo‐crystalline regions started to pack into crystalline regions due to the increasing stress which was produced by cyclization occurred in the amorphous phase, and the crystallinity and crystallite size increased slowly. When the temperature reached to 220°C, pseudo‐crystalline regions rearranged obviously under stress, while molecular chains in the crystalline region started to participate in cyclization, and the original crystalline structures were destructed. The two competitive processes induced that the crystallinity and crystallite size grew to the maximum values at 30 min. When the temperature up to 240°C, the cyclization occurred in the crystalline region became more intensely, while the crystallinity and crystallite size decreased out of synchronize. A scheme of evolution of aggregation structure in cyclization was modified based on the above results. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Rheological characterization of concentrated cellulose solutions in 1‐allyl‐3‐methylimidazolium chloride
Authors: Lu Fei , Cheng Bowen , Song Jun , Liang Yi 
Published: November 2011

AbstractThe rheological properties of high concentrated wood pulp cellulose 1‐allyl‐3‐methy‐limidazolium Chloride ([Amim]Cl) solutions were investigated by using steady shear and dynamic viscoelastic measurement in a large range of concentrations (10–25 wt %). The measurement reveals that cellulose may slightly degrade at 110°C in [Amim]Cl and the Cox–Merz rule is valid for 10 wt % cellulose solution. All of the cellulose solutions showed a shear thinning behavior over the shear rate at temperature from 80 to 120°C. The zero shear viscosity (ηo) was obtained by using the simplified Cross model to fit experimental data. The ηo values were used for detailed viscosity‐concentration and activation energy analysis. The exponent in the viscosity‐concentration power law was found to be 3.63 at 80°C, which is comparable with cellulose dissolved in other solvents, and to be 5.14 at 120°C. The activation energy of the cellulose solution dropped from 70.41 to 30.54 kJ/mol with an increase of concentration from 10 to 25 wt %. The effects of temperature and concentration on the storage modulus (G′), the loss modulus (G″) and the first normal stress difference (N1) were also analyzed in this study. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Proton exchange composite membranes from blends of brominated and sulfonated poly(2,6‐dimethyl‐1,4‐phenylene oxide)
Authors: Xu Tongwen , Wu Dan , Seo Seok‐Jun , Woo Jung‐Je , Wu Liang , Moon Seung‐Hyeon 
Published: November 2011

AbstractNew composite proton exchange membrane was prepared by mixing a 1‐methyl‐2‐pyrrolidone (NMP) solution of sulfonated poly(2,6‐dimethyl‐1,4‐phenylene oxide) (SPPO) in sodium form and brominated poly(2,6‐dimethyl‐1,4‐phenylene oxide) (BPPO) for hydrophilic‐hydrophobic balance, then casting the solution as a thin film, evaporating the solvent, and treating the membrane with aqueous hydrochloric acid. The resulting membranes were subsequently characterized using FTIR‐ATR, SEM‐EDXA, and TGA instrumentation as well as measurements of basic properties such as ion exchange capacity (IEC), water uptake, proton conductivity, methanol permeability, and single cell performance. Water uptake, IEC, proton conductivity, and methanol permeability all increased with a corresponding increase of SPPO content. By properly compromising the conductivity and methanol permeability, membranes with 60–80 wt % SPPO content exhibited comparable proton conductivity to that of Nafion® 117, with only half the methanol permeability, thereby demonstrating higher single cell performance. The membranes developed in this study could thus be a suitable candidate electrolyte for proton exchange membrane fuel cells (PEMFCs). © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Comparative study on the exfoliated expanded graphite nanosheet‐PES composites prepared via different compounding method
Authors: Bian J. , Wei X. W. , Lin H. L. , Wang L. , Guan Z. P. 
Published: November 2011

AbstractComposites made of polyethersulfone (PES) reinforced with exfoliated graphite nanoplatelets are fabricated by melt mixing, polymer solution, and coating. Coating is an efficient compounding method emphasized in this research, where expanded graphite (EG) and PES powder are premixed in isopropyl alcohol using sonication to disperse the EG by coating individual PES powder particles. The microstructure and property of EG/PES composites were investigated by X‐ray diffraction, scanning electron microscope, thermal gravimetric analysis, differential scanning calorimetric, and electronic tensile tester. The electrical conductivity was confirmed using electrochemical tester. It is found that the coating method is more effective than the polymer solution and directly melt mixing methods widely used, in terms of increasing the electrical conductivity and lowering the percolation threshold of thermoplastic composites, and enhancing the probability that the large platelet morphology of EG can be preserved in the final composite. The research reported here provides an understanding on how the compounding method used during the fabrication of composites is important to achieving the optimal mechanical properties, thermal properties, electrical conductivity, and percolation threshold. This method should have wide applicability to all thermoplastic matrix composite systems. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
CDNA cloning and characterization of S6 kinase and its effect on yolk protein gene expression in the oriental fruit fly Bactrocera dorsalis (Hendel)
Authors: Suganya R. , Chen Shiu‐Ling , Lu Kuang‐Hui 
Published: November 2011

Abstractp70 S6 kinase (S6K), a serine/threonine protein kinase, is a downstream target of target of rapamycin (TOR) gene and an important regulator of protein synthesis responsible for cell growth and reproduction. In this study, a S6K gene, named BdS6K (GenBank Accession No. GQ203802), was isolated from the oriental fruit fly Bactrocera dorsalis (Hendel). Quantitative RT‐PCR showed that BdS6K mRNA is expressed at a higher level in egg than in other developmental stages, as well as in ovary than in fat body. Downregulation of BdS6K activity by rapamycin treatment in larval stage resulted in the developmental defects of larvae, pupae, and adults, with a reduced yolk protein (YP) expression in the fat body throughout the first reproductive cycle with a substantial reduction in ovary size, and also repressed the egg development in female fruit fly. Knockdown of BdS6K gene by RNA interference in the adult significantly decreased the YP expression. These observations support the involvement of BdS6K signaling in the regulation of the YP synthesis and egg development in B. dorsalis. © 2011 Wiley Periodicals, Inc.
Observer‐Based Reliable Control for Discrete‐Time Switched Linear Systems with Faulty Actuators
Authors: Li Jiao , Zhao Jun 
Published: November 2011

AbstractThis paper deals with the issue of reliable control for discrete‐time switched linear systems with faulty actuators by utilizing a multiple Lyapunov functions method and estimate state‐dependent switching technique. A solvability condition for the reliable control problem is given in terms of matrix inequality with an extra matrix variable. This condition allows the reliable control problem for each individual subsystem to be unsolvable. For each subsystem of such a switched system, we design an observer and an observer‐based controller. A switching rule depending on the observer state is designed which, together with the controllers, can guarantee the stability of the closed‐loop switched system for all admissible actuator failures. The observers, controllers, and switching law are explicitly computed by solving linear matrix inequalities (LMIs). The proposed design method is illustrated by two numerical examples.