bluuebunny/crossref_metadata_2025_split huggingface dataset:
Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
Authors: McClelland Verity , Cullup Thomas , Bodi Istvan , Ruddy Deborah , Buj‐Bello Anna , Biancalana Valerie , Boehm J. , Bitoun Marc , Miller Owen , Jan Wajanat , Menson Esse , Amaya Luis , Trounce John , Laporte Jocelyn , Mohammed Shehla , Sewry Caroline , Raiman Julian , Jungbluth Heinz 
Published: February 2010

AbstractVici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and hypopigmentation. An associated neuromuscular phenotype has not previously been described in detail. We report on an infant with clinical features suggestive of Vici syndrome and additional sensorineural hearing loss. Muscle biopsy revealed several changes including markedly increased variability in fiber size, increased internal nuclei, and abnormalities on Gomori trichrome and oxidative stains, raising a wide differential diagnosis including neurogenic atrophy, centronuclear myopathy (CNM) or a metabolic (mitochondrial) cytopathy. Respiratory chain enzyme studies, however, were normal and sequencing of common CNM‐associated genes did not reveal any mutations. This case expands the clinical spectrum of Vici syndrome and indicates that muscle biopsy ought to be considered in infants presenting with suggestive clinical features. In addition, we suggest that Vici syndrome is considered in the differential diagnosis of infants presenting with congenital callosal agenesis and that additional investigation has to address the possibility of associated ocular, auditory, cardiac, and immunologic involvement when this radiologic finding is present. © 2010 Wiley‐Liss, Inc.
Magnetic resonance imaging of a unique mutation in a family with Pelizaeus–Merzbacher disease
Authors: Miller Elka , Widjaja Elysa , Nilsson Daniel , Yoon Grace , Banwell Brenda , Blaser Susan 
Published: February 2010

AbstractPelizaeus–Merzbacher disease (PMD) is a rare dysmyelination disorder, characterized by significant developmental delay, truncal hypotonia, spasticity, dysarthria, and nystagmus. Conventional magnetic resonance (MR) images demonstrate discordance of myelin maturation, while newer MR techniques, such as MR spectroscopy and diffusion tensor imaging, may be helpful in disease assessment. We report on a family of two young boys and their mother who share the same unusual 4‐bp deletion of the PLP1 gene: c51_54 del TTCC, causing truncation of the PLP1 in exon 2. The brain MRI appearances in this unique deletion, using newer MR imaging, are described. © 2010 Wiley‐Liss, Inc.
A rare case of trisomy 15pter‐q21.2 due to a de novo marker chromosome
Authors: Pacanaro Ade Nubia Xavier , Christofolini Denise Maria , Kulikowski Leslie Domenici , Belangero Sintia Iole Nogueira , da Silva Bellucco Fernanda Teixeira , Varela Monica C. , Koiffmann Celia P. , Yoshimoto Maisa , Squire Jeremy A. , Schiavon Adriana V. , Heck Benjamin , Melaragno Maria Isabel 
Published: February 2010

AbstractSupernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are derived from acrocentric chromosomes and half of them include the short arm of chromosome 15. Generally, they appear as bisatellited isodicentric marker chromosomes, most of them are symmetric. These chromosomes are normally originated de novo and are associated with mild to severe intellectual disability but not with physical abnormalities. We report on a patient with an SMC studied using classical and molecular cytogenetic procedures (G and C banding, NOR staining, painting and centromeric fluorescent in situ hybridization (FISH), BAC‐FISH, and SKY). The MLPA technique and DNA polymorphic markers were used in order to identify its parental origin. The marker chromosome, monosatellited and monocentric, was found to be derived from a maternal chromosome 15 and was defined as 15pter‐q21.2. This is the report of the largest de novo monosatellited 15q marker chromosome ever published presenting detailed cytogenetic and clinical data. It was associated with a phenotype including cardiac defect, absence of septum pellucidum, and dysplasia of the corpus callosum. © 2010 Wiley‐Liss, Inc.
Cold‐induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation
Authors: Yamazaki Masanori , Kosho Tomoki , Kawachi Shigeo , Mikoshiba Maiko , Takahashi Jun , Sano Rena , Oka Kenji , Yoshida Kunihiro , Watanabe Tomoharu , Kato Hiroyuki , Komatsu Mitsuhisa , Kawamura Rie , Wakui Keiko , Knappskog Per M. , Boman Helge , Fukushima Yoshimitsu 
Published: February 2010

AbstractCold‐induced sweating syndrome (CISS) is a rare autosomal recessive disorder caused by mutations in CRLF1 (cytokine receptor‐like factor 1), characterized by profuse sweating in cold environmental temperature and craniofacial and skeletal features. Mutations in CRLF1 also cause Crisponi syndrome (CS), characterized by neonatal‐onset paroxysmal muscular contractions as well as craniofacial and skeletal manifestations and abnormal functions of the autonomic nerve system. To date, it is an unresolved problem whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions or with different presentations depending on the patients' age at diagnosis. We report on a 30‐year‐old Japanese woman with CISS and homozygous out‐of‐frame 23‐base deletion of CRLF1. In infancy, she did not show paroxysmal muscular contractions, but showed feeding difficulty, hyperthermia, and facial characteristics including thick and arched eyebrows, a short nose with anteverted nostrils, full cheeks, an inverted upper lip, and a small mouth, resembling those observed in CS. Profuse sweating was noticed at 3 years of age. Cold‐induced sweating was recognized in her elementary school days. In adolescence to adulthood, she showed a Marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender face with poor expression, a distinctive nose with hypoplastic nares, malar hypoplasia, prognathism, and a small mouth. This is the first report of detailed longitudinal observation of a patient with CRLF1 abnormalities, compatible with the notion that CISS and CS may be a single clinical entity. © 2010 Wiley‐Liss, Inc.
Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia
Authors: Zajac Allison , Baek Seung‐Hak , Salhab Imad , Radecki Melissa A. , Kim Sukwha , Hakonarson Hakon , Nah Hyun‐Duck 
Published: February 2010

AbstractCraniometaphyseal dysplasia is caused by mutations in ANKH (ankylosis, progressive homolog [mouse]) in the majority of cases, and all of the reported mutations are single amino acid changes. Genomic DNA from an affected patient, his biological parents, and a sibling was amplified and ANKH was sequenced. The affected patient had a complex heterozygous mutation in exon 7 (c.936T > C, c.938C > G, c.942_953delTGGTTGACGGAA), predicting p.Try290Gln and p.Trp292_Glu295del. We studied the effect of the predicted mutation on the subcellular distribution of ANKH protein. Immunofluorescent labeling of COS‐7 cells transduced with normal or mutant Ank (murine progressive ankylosis), showed that normal Ank localized to both the plasma membrane and cytoplasm, whereas mutant Ank was detected only in the cytoplasmic compartment. We propose that this craniometaphyseal dysplasia mutation causes a loss of ANKH protein expression and activity in the plasma membrane as a result of aberrant intracellular protein trafficking. © 2010 Wiley‐Liss, Inc.
Histology and synchrotron radiation‐based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome
Authors: Glueckert Rudolf , Rask‐Andersen Helge , Sergi Consolato , Schmutzhard Joachim , Mueller Bert , Beckmann Felix , Rittinger Olaf , Hoefsloot Lies H. , Schrott‐Fischer Anneliese , Janecke Andreas R. 
Published: February 2010

AbstractCHARGE (Coloboma of the iris or retina, heart defects, atresia of the choanae, retardation of growth and/or development, genital anomalies, ear anomalies) syndrome (OMIM #214800) affects about 1 in 10,000 children and is most often caused by chromodomain helicase DNA‐binding protein‐7 (CHD7) mutations. Inner ear defects and vestibular abnormalities are particularly common. Specifically, semicircular canal (SCC) hypoplasia/aplasia and the presence of a Mondini malformation can be considered pathognomonic in the context of congenital malformations of the CHARGE syndrome. We obtained a temporal bone (TB) of a patient with CHARGE syndrome who died from bacteremia at 3 months of age. The clinical diagnosis was confirmed in the patient by direct DNA sequencing and the detection of a de novo, truncating CHD7 mutation, c.6169dup (p.R2057fs). We assessed changes of the TB and the degree of neural preservation, which may influence the potential benefit of cochlear implantation. The TB was analyzed using synchrotron radiation‐based micro computed tomography, and by light microscopy. The vestibular partition consisted of a rudimentary vestibule with agenesis of the SCCs. The cochlea was hypoplastic with poor or deficient interscaling and shortened (Mondini dysplasia). The organ of Corti had near normal structure and innervation. Modiolus and Rosenthal's canal were hypoplastic with perikarya displaced along the axon bundles into the internal acoustic meatus, which may be explained by the arrest or limited migration and translocation of the cell nuclei into the cochlear tube during development. © 2010 Wiley‐Liss, Inc.
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
Authors: Zentner Gabriel E. , Layman Wanda S. , Martin Donna M. , Scacheri Peter C. 
Published: February 2010

AbstractCHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities (including deafness)] is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Here, we review the clinical features of 379 CHARGE patients who tested positive or negative for mutations in CHD7. We found that CHARGE individuals with CHD7 mutations more commonly have ocular colobomas, temporal bone anomalies (semicircular canal hypoplasia/dysplasia), and facial nerve paralysis compared with mutation negative individuals. We also highlight recent genetic and genomic studies that have provided functional insights into CHD7 and the pathogenesis of CHARGE syndrome. © 2010 Wiley‐Liss, Inc.
Peptide‐Based Methods for the Preparation of Nanostructured Inorganic Materials
Authors: Chen Chun‐Long , Rosi Nathaniel L. 
Published: February 2010

AbstractWith their unique sequence‐specific self‐assembly and their substrate recognition properties, peptides play critical roles in controlling the biomineralization of inorganic nanostructures in natural systems and in directing the assembly of important soft matter. These attributes render them particularly useful molecules for the fabrication of new materials. Researchers from many scientific disciplines now use peptides to direct the synthesis of new inorganic nanostructures and the assembly of soft biomaterials. In this Review we describe the developments in this field and focus on the versatility of peptides and their ability to direct the composition and structure of new inorganic materials.
Preparation and catalytic application of poly 4‐vinylpyridine microspheres
Authors: Cao Li‐Jing , Wang Ge , Shi Lin , Yang Mu , Sun Dong‐Bai 
Published: February 2010

AbstractPoly 4‐vinylpyridine (P4VP) microspheres between 170 and 728 nm were synthesized by Emulsifier‐Free Emulsion Polymerization. The monomer concentration, ionic strength, and initiator concentration affected the microsphere size and size distribution. The increasing monomer concentration led to the increase of microsphere size, whereas the size distribution of the resultant P4VP microspheres increased with the increasing ionic strength of the reaction systems. Mo(O2)2O·2DMF was successfully anchored onto the P4VP microspheres by ligand exchange, and the heterogeneous catalyst showed high‐catalytic activity for epoxidation of cis‐cyclooctene with environmentally friendly hydrogen peroxide. The size and morphology of the supported microspheres has important influence on the catalytic activity. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Thermophysical properties of CTBN and HTPB liquid rubber modified epoxy blends
Authors: Thomas R. , Boudenne A. , Ibos L. , Candau Y. , Thomas S. 
Published: February 2010

AbstractThermal conductivity and diffusivity of carboxyl‐terminated copolymer of polybutadiene and acrylonitrile (CTBN) and hydroxyl‐terminated polybutadiene (HTPB) liquid rubber‐ modified epoxy blends were investigated. A good agreement was observed between the calculated values of the specific heat estimated from thermal conductivity, diffusivity, and density measurements and the DSC results. Measurements of the thermal conductivity values of HTPB/Epoxy blends were in good agreement with three simple theoretical models, which have been used thereafter for the estimation of the unknown value of the thermal conductivity of CTBN (kCTBN = 0.24 Wm−1K−1). The morphology of the rubber‐modified epoxy blends has been quantified and indicate a tendency towards co‐continuous phase upon the inclusion of higher weight percentage of rubber (≥30 wt %). Moreover, we notice a significant enhancement of the thermal conductivity during this morphological shift. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Crosslinking of polyvinyl alcohol (PVA) fibrous membranes with glutaraldehyde and PEG diacylchloride
Authors: Wang Yuhong , Hsieh You‐Lo 
Published: February 2010

AbstractPolyvinyl alcohol (PVA) fibrous membranes were generated by elestrospinning 10% aqueous PVA solutions then rendered water insoluble by reactions with difunctional reagents. The as‐electrospun PVA fibers were semi‐crystalline as evident by melting behavior (Tm = 190°C ΔHm = 39 J/g) and wide angle x‐ray diffraction (peak at 2θ = 20°). Chemical reactions with glutaraldehyde in either aqueous sodium sulfate (GA/Na2SO4) or ethanol (GA/EtOH) and polyethylene glycol (PEG) diacylchloride in 1 : 1 (v:v) toluene/pyridine produced crosslinked PVA with varied effects on the crystalline structure of the fibers. The fiber diameters remained in the submicrometer range. Among all crosslinking agents and conditions studied, reaction with shorter PEG at lower extent produced water‐insoluble PVA fibrous membrane with least change to the interfiber porous structure. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Optimization of adhesion properties of polypropylene by surface modification using acrylic acid photografting
Authors: Balart J. , Fombuena V. , Balart R. , España J. M. , Fenollar R. Navarro, O. 
Published: February 2010

AbstractPolypropylene is one of the most widely used plastic materials because of an excellent balance between properties, processability, and cost. Nevertheless, polypropylene is characterized by very low surface energy, and this has a negative effect on adhesion properties. The use of polypropylene in technological applications requires, in many cases, a surface pretreatment to modify surface activity, thus enhancing good adhesion levels. In this work, we have used photopolymerization of acrylic acid (AA) monomer on polypropylene surface by using UV radiation. This enables photografting of AA (highly polar) on polypropylene topmost layers, thus having a positive effect on overall surface activity of polypropylene surface and, consequently, adhesion properties can be remarkably improved. We have evaluated the influence of the exposure time to UV radiation on wettability changes and adhesion properties. Wettability changes have been studied by contact angle measurements and subsequent surface energy calculation. Chemical changes produced by photopolymerization of AA have been followed by Fourier transformed infrared spectroscopy. Mechanical characterization of adhesion joints has been carried out in two different ways: peel and shear. Fractured surface of adhesion joints has been characterized by scanning electron microscopy. The overall results show a remarkable increase in mechanical properties of adhesion joints for exposure times of about 180 s, which represents an interesting time from an industrial point of view. Therefore, photopolymerization process is highly useful to increase adhesion properties of polypropylene. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Amphiphilic silicone copolymers for pressure sensitive adhesive applications
Authors: Mecham Sue , Sentman Alan , Sambasivam Mahesh 
Published: February 2010

AbstractAmphiphilic copolymers of poly(dimethylsiloxane)‐poly(maleic anhydride‐vinyl ethyl ether) (PDMS/MA/VEE) were synthesized using a polydimethylsiloxane macroinitiator. The effect of these copolymers in the properties of a silicone pressure sensitive adhesive was evaluated. The addition of the copolymers resulted in lower peel strength (more than 50% reduction) from stainless steel panel while the moisture vapor transmission rate (MVTR) showed a significant increase (8× times higher) compared to the neat pressure sensitive adhesive. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Poly(dimethylsiloxane‐b‐styrene) diblock copolymers prepared by reversible addition–fragmentation chain‐transfer polymerization: Synthesis and characterization
Authors: Guan Cheng‐Mei , Luo Zheng‐Hong , Tang Pei‐Ping 
Published: February 2010

AbstractWell‐defined poly(dimethylsiloxane‐b‐styrene) diblock copolymers were prepared by reversible addition–fragmentation chain‐transfer (RAFT) polymerization. Monohydroxyl‐terminated polydimethylsiloxane was modified to form a functional polydimethylsiloxane/macro‐RAFT agent, which was reacted with styrene to form the diblock copolymers. The chemical compositions and structures of the copolymers were characterized by proton nuclear magnetic resonance spectroscopy, Fourier transform infrared spectroscopy, and gel permeation chromatography. The surface properties and morphology of the copolymers were investigated with static water contact‐angle measurements, X‐ray photoelectron spectroscopy, transmission electron microscopy, and atomic force microscopy, which showed a low surface energy and microphase separation surfaces that were composed of hydrophobic domains from polydimethylsiloxane segments. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Effect of the grain size of nanoparticle dye‐coated titanium dioxide on the short‐circuit current density and open‐circuit voltage of an indium tin oxide/titanium dioxide/poly(acrylonitrile)–propylene carbonate–lithium perchlorate/graphite solar cell
Authors: Rika  , Rahman M. Y. A. , Salleh M. M. , Umar A. A. , Ahmad A. 
Published: February 2010

AbstractA dye‐sensitized indium tin oxide (ITO)/titanium dioxide (TiO2)/polyacrylonitrile (PAN)–propylene carbonate (PC)–lithium perchlorate (LiClO4)/graphite solar cell was fabricated, and its performance was tested in the dark and under the illumination of a 100 mW/cm2 light. Three TiO2 samples were used in the device, namely, uncoated TiO2, a TiO2 film coated with methyl red dye, and a TiO2 film coated with coumarin dye. The films were deposited onto an ITO‐covered glass substrate by a controlled hydrolysis technique assisted with a spin‐coating technique. The films were characterized by scanning electron microscopy to determine their average grain size. The smallest grain size (48 nm) was obtained for the uncoated film. An electrolyte of PAN–LiClO4 with PC plasticizer was prepared by a solution‐casting technique. A graphite electrode was prepared on a glass slide by an electron‐beam evaporation technique. The device showed rectification properties in the dark and showed a photovoltaic effect under illumination. The device with the uncoated TiO2 film showed the highest short‐circuit current density (2.0 μA/cm2) and an open‐circuit voltage of 0.64 V because it possessed the smallest grain size. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Synthesis and properties of poly(trimethylene terephthalate‐co‐2‐methyl‐ethylene terephthalate) random copolyesters
Authors: Wu Fangjuan , Yang Guisheng 
Published: February 2010

AbstractPoly(trimethylene terephthalate‐co‐2‐methyl‐ ethylene terephthalate) random copolymers of various compositions were synthesized via traditional two‐step polycondensation by incorporating of 1,2‐propanediol. The molar composition of trimethylene terephthalate and 2‐methyl‐ethylene terephthalate units and chemical structure were confirmed by means of 1H‐NMR and Fourier transform infrared. The thermal properties of the copolyesters were evaluated by DSC and TGA. As far as the thermal properties is concerned, the main effect of incorporation of 1,2‐propanediol was a lowering in the melting temperature, and an increment of glass transition temperature compared to homopolymer PTT. Due to the effect of the lateral methyl groups in the polymeric chain, the thermal stability is slightly decreased as the amount of the MET units is increased. Furthermore, the crystals of PTT/MET copolyesters were observed by hot‐stage optical polarizing microscopy at the indicated crystallization temperatures. As expected, the incorporation of MET units in the polymer chain of PTT was found to decrease the dimension of the crystals. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Chelation ion‐exchange study of copolymer resin derived from 8‐hydroxyquinoline 5‐sulphonic acid, oxamide, and formaldehyde
Authors: Singru R. N. , Gurnule W. B. 
Published: February 2010

AbstractCopolymers (8‐HQ5‐SAOF) were synthesized by the condensation of 8‐hydroxyquinoline 5‐sulphonic acid (8‐HQ5‐SA) and oxamide (O) with formaldehyde (F) in the presence of acid catalyst. Four different copolymers were synthesized by using varied molar proportion of the reacting monomers. Copolymer resin composition has been determined on the basis of their elemental analysis and average molecular weights of these resins were determined by conductometric titration in nonaqueous medium. Viscometric measurement in dimethyl sulphoxide (DMSO) has been carried out with a view to ascertain the characteristic functions and constants. Electronic spectra, FTIR, and proton nuclear magnetic resonance spectra were studied to elucidate the structures. The newly synthesized copolymer proved to be a selective chelating ion‐exchange copolymer for certain metals. The chelating ion‐exchange properties of this synthesized copolymer was studied for different metal ions such as Fe3+, Cu2+, Ni2+, Co2+, Zn2+, Cd2+, and Pb2+. A batch equilibrium method was used in the study of the selectivity of metal ion uptake involving the measurements of the distribution of a given metal ion between the copolymer sample and a solution containing the metal ion only for representative copolymer 8‐HQ5‐SAOF‐I due to economy of space. The study was carried out over a wide pH range, shaking time, and in media of various ionic strengths. The copolymer showed a higher selectivity for Fe3+, Cu2+, and Ni2+ ions than for Co2+, Zn2+, Cd2+, and Pb2+ ions. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2010