bluuebunny/crossref_metadata_2025_split huggingface dataset:
Poliovirus: Generation and Characterization of Mutants
Authors: Burrill Cecily P. , Strings Vanessa R. , Schulte Michael B. , Andino Raul 
Published: May 2013

AbstractPoliovirus (PV) is the prototypical picornavirus. It is a non‐enveloped RNA virus with a small (∼7.5‐kb) genome of positive polarity. cDNA clones of several strains are available, and infectious virus can be produced by the transfection of in vitro–transcribed viral genomes into an appropriate host cell. The ease of genetic studies in poliovirus is a primary reason that it has long served as a model to study RNA virus biology, pathogenesis, and evolution. Protocols for the generation and characterization of PV mutants are presented. Curr. Protoc. Microbiol. 29:15H.2.1‐15H.2.32. © 2013 by John Wiley & Sons, Inc.
Clinical Features and Outcomes of Posterior Reversible Encephalopathy Syndrome in Patients With Systemic Lupus Erythematosus
Authors: Lai Chien‐Chih , Chen Wei‐Sheng , Chang Yu‐Sheng , Wang Shu‐Hung , Huang Chun‐Jui , Guo Wan‐Yuo , Yang Wu‐Chang , Huang De‐Feng 
Published: May 2013

ObjectiveTo analyze the clinical features and outcomes of patients with posterior reversible encephalopathy syndrome (PRES), the risk factors of PRES‐related intracranial hemorrhage (ICH), and all‐cause mortality in patients with systemic lupus erythematosus (SLE).MethodsTwenty‐six episodes of PRES were identified in 23 SLE patients, using an electronic medical records database of 3,746 SLE patients.ResultsThe prevalence of PRES was 0.69% among SLE patients. The scores of the SLE Disease Activity Index without neurologic descriptors (SLEDAI‐N) were significantly elevated from baseline for a mean of 3.3 during PRES (P = 0.009). Rapidly deteriorating renal function, pulmonary hemorrhage, thrombotic microangiopathy, macrophage activation syndrome, or multiple organ dysfunction syndrome appeared during 65.4% of episodes. In 16 episodes, patients completely recovered from PRES‐related symptoms within a median of 7 days. Visual impairment was reversed within 2 days in 8 of 15 patients, but impairment in other patients was protracted for up to 4 months, especially when ICH was present. Hypoalbuminemia (<20 gm/liter; odds ratio [OR] 30, 95% confidence interval [95% CI] 2.04–441.84) and thrombocytopenia (<30,000/mm3; OR 21, 95% CI 1.27–346.93) were risk factors for PRES‐related ICH. Patients with SLEDAI‐N scores >18 during a PRES attack had significantly higher mortality rates than did patients with SLEDAI‐N scores ≤18 (P = 0.009 by log rank test).ConclusionPRES frequently occurs during active SLE with multiple complications. Hypoalbuminemia and thrombocytopenia may contribute to PRES‐related ICH. The extraneurologic disease activity of lupus during PRES may influence the mortality rate of SLE patients.
Polymer Nanocomposites Containing Carbon Nanofibers as Soft Printable Sensors Exhibiting Strain‐Reversible Piezoresistivity
Authors: Toprakci Hatice A. K. , Kalanadhabhatla Saral K. , Spontak Richard J. , Ghosh Tushar K. 
Published: May 2013

AbstractDesigned as flexible and extendable conductive print media for pervasive computing as strain sensors, nanocomposites composed of a plasticized thermoplastic or a cross‐linked elastomer and containing carbon nanofibers at concentrations just above the percolation threshold are observed to exhibit a uniquely strain‐reversible piezoresistive response upon application of quasi‐static tensile strain. At small strain levels, the electrical resistance of these nanocomposites reduces with increasing strain, indicative of negative piezoresistivity. Beyond a critical strain, however, the resistance reverses and increases with increasing strain, revealing the existence of a negative‐to‐positive piezoresistivity transition that is fully strain‐reversible and repeatable upon strain cycling. These characteristics imply that the nanocomposite morphologies are highly stable with little evidence of mechanical hysteresis. The mechanism underlying this transition is attributed to reorientation of high‐aspect‐ratio nanofibers (initially homogeneously dispersed) at low strains, followed by separation at high strains. While deposition of these nanocomposites as robust print coatings on textile fabric alters the percolation threshold, strain‐reversible piezoresistivity is retained, confirming that they are suitable as printable strain sensors.
In Vivo Bio‐Safety Evaluations and Diagnostic/Therapeutic Applications of Chemically Designed Mesoporous Silica Nanoparticles
Authors: Chen Yu , Chen Hangrong , Shi Jianlin 
Published: May 2013

AbstractThe remarkable progress of nanotechnology and its application in biomedicine have greatly expanded the ranges and types of biomaterials from traditional organic material‐based nanoparticles (NPs) to inorganic biomaterials or organic/inorganic hybrid nanocomposites due to the unprecedented advantages of the engineered inorganic material‐based NPs. Colloidal mesoporous silica NPs (MSNs), one of the most representative and well‐established inorganic materials, have been promoted into biology and medicine, and shifted from extensive in vitro research towards preliminary in vivo assays in small‐animal disease models. In this comprehensive review, the recent progresses in chemical design and engineering of MSNs‐based biomaterials for in vivo biomedical applications has been detailed and overviewed. Due to the intrinsic structural characteristics of elaborately designed MSNs such as large surface area, high pore volume and easy chemical functionalization, they have been extensively investigated for therapeutic, diagnostic and theranostic (concurrent diagnosis and therapy) purposes, especially in oncology. Systematic in vivo bio‐safety evaluations of MSNs have revealed the evidences that the in vivo bio‐behaviors of MSNs are strongly related to their preparation prodecures, particle sizes, geometries, surface chemistries, dosing parameters and even administration routes. In vivo pharmacokinetics and pharmacodynamics further demonstrated the effectiveness of MSNs as the passively and/or actively targeted drug delivery systems (DDSs) for cancer chemotherapy. Especially, the advance of nano‐synthetic chemistry enables the production of composite MSNs for advanced in vivo therapeutic purposes such as gene delivery, stimuli‐responsive drug release, photothermal therapy, photodynamic therapy, ultrasound therapy, or anti‐bacteria in tissue engineering, or as the contrast agents for biological and diagnostic imaging. Additionally, the critical issues and potential challenges related to the chemical design/synthesis of MSNs‐based “magic bullet” by advanced nano‐synthetic chemistry and in vivo evaluation have been discussed to highlight the issues scientists face in promoting the translation of MSNs‐based DDSs into clinical trials.
Catalytic Asymmetric Five‐Component Tandem Reaction: Diastereo‐ and Enantioselective Synthesis of Densely Functionalized Tetrahydropyridines with Biological Importance
Authors: Shi Feng , Tan Wei , Zhu Ren‐Yi , Xing Gui‐Juan , Tu Shu‐Jiang 
Published: May 2013

AbstractThe first catalytic asymmetric five‐component tandem reactions of β‐keto esters, aromatic aldehydes and anilines have been established in the presence of a chiral phosphoric acid, affording densely functionalized tetrahydropyridines with concomitant generation of five σ bonds and two stereogenic centers in high diastereo‐ and enantioselectivities (up to >99:1 dr, 95:5 er). In addition, the first isolation and preparation of a diene species as the key intermediate of the reaction has been successfully realized, leading to the formation of the desired tetrahydropyridine via further condensation with in situ generated imine, which supported the proposed tandem [4+2] reaction pathway to some extent. This protocol not only represents the first enantioselective example of this five‐component tandem reaction, but also provides an unprecedented access to enantioenriched tetrahydropyridines with structural diversity, which holds great potential in medicinal chemistry.
Palladium‐Catalyzed Decarboxylative Coupling of α‐ Oxocarboxylic Acids with C(sp2)H of 2‐Aryloxypyridines
Authors: Yao Jinzhong , Feng Ruokun , Wu Zaihong , Liu Zhanxiang , Zhang Yuhong 
Published: May 2013

AbstractAn efficient palladium‐catalyzed decarboxylative ortho‐acylation of 2‐aryloxypyridines with α‐oxocarboxylic acids is described. In this new transformation, the aromatic C(sp2)H bond was successfully acylated to give diverse aromatic ketones regioselectively in moderate to good yields. The pyridine group can be removed easily after the acylation to give the corresponding 2‐hydroxy aromatic ketones.
A novel RASA1 mutation causing capillary malformation–arteriovenous malformation (CM–AVM) presenting during pregnancy
Authors: Durrington Hannah J. , Firth Helen V. , Patient Charlotte , Belham Mark , Jayne David , Burrows Nigel , Morrell Nicholas W. , Chilvers Edwin R. 
Published: May 2013

ABSTRACTCapillary malformation–arteriovenous malformation (CM–AVM) is a newly recognized clinical entity caused by mutation of the RASA1 gene, which encodes p120‐RasGAP. Here we describe, for the first time, a patient with CM–AVM presenting during the late stages of pregnancy with pulmonary “capillary level” microvascular shunt, worsening cutaneous capillary malformations, and gross fluid overload. Sequencing revealed a novel mutation of the RASA1 gene involving a frameshift mutation in the RASGAP domain of RASA1. This report extends our current genetic and clinical understanding of CM–AVM. © 2013 Wiley Periodicals, Inc.
Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS‐like phenotype
Authors: Wang Jia‐Chi , Vaccarello‐Cruz Mary , Ross Leslie , Owen Renius , Pratt Victoria M. , Lightman Katherine , Liu Yan , Hafezi Katayoun , Cherif Dhia , Sahoo Trilochan 
Published: May 2013

AbstractAngelman and Prader–Willi syndromes are reciprocal imprinting disorders caused by loss of maternally or paternally expressed genes, respectively, within 15q11.2–q13. Angelman syndrome (AS; OMIM 105830) is a neurodevelopmental disorder and is due to the loss of maternally expressed UBE3A gene. Prader–Willi syndrome (PWS; OMIM 176270) is a clinically distinct disorder caused by the loss of paternally expressed genes in the human chromosome region 15q11.2–q13. Recently published data strongly suggest a role for the paternally expressed small nucleolar RNA (snoRNA) cluster, SNORD116, in PWS etiology. Uniparental disomy (UPD) 15 is one of the important causes of PWS and AS. Interestingly, balanced and unbalanced chromosomal aberrations in the form of Robertsonian translocation, isochromosomes, supernumerary marker chromosomes and copy number variations have been strongly linked with the occurrence of UPD. Here we report on a very unique case with a mosaic isochromosome for the entire long arm of 15, that is, i(15)(q10), resulting in mosaic uniparental isodisomy for 15q and with no copy number alterations. This is the first report of UPD15 constituted by a mosaic, but copy number neutral chromosomal rearrangement in a patient with a variant PWS‐like phenotype. © 2013 Wiley Periodicals, Inc.
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy
Authors: Bassuk Alexander G. , Geraghty Eileen , Wu Shu , Mullen Saul A. , Berkovic Samuel F. , Scheffer Ingrid E. , Mefford Heather C. 
Published: May 2013

AbstractRare copy number variants (CNVs) have been established as an important cause of various neurodevelopmental disorders, including intellectual disability (ID) and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation. Here we present two siblings and their mother who have mild ID, short stature, obesity and seizures. Array CGH studies show that each affected individual has two large, rare CNVs. The first is a deletion of chromosome 16p11.2, which has been previously associated with ID and autism. The second is a 0.9 Mb deletion of 19p13.2, which results in the deletion of a cluster of zinc finger genes. We suggest that, while the 16p11.2 deletion is likely the primary cause of the obesity and ID in this family, the 19p13.2 deletion may act as a modifier of the epilepsy phenotype, which is not a core feature of the 16p11.2 deletion syndrome. We investigate the potential role of ZNF44, a gene within the deleted region, in a cohort of patients with generalized epilepsy. © 2013 Wiley Periodicals, Inc.
Severe obstructive sleep apnea in loeys–dietz syndrome successfully treated using continuous positive airway pressure
Authors: Takenouchi Toshiki , Saito Hideyuki , Maruoka Ryo , Oishi Naoki , Torii Chiharu , Maeda Jun , Takahashi Takao , Kosaki Kenjiro 
Published: May 2013

AbstractLoeys–Dietz syndrome is a recently recognized connective tissue disorder characterized by severe craniofacial and skeletal abnormalities as well as arterial tortuosity with aggressive aneurysm formation. Marfan syndrome, a classic connective tissue disorder, is known to be associated with a risk of obstructive sleep apnea, but sleep‐related breathing disorders have not been previously documented in Loeys–Dietz syndrome. The propositus had the prototypic features of Loeys–Dietz syndrome with a de novo mutation in TGFBR2. He developed severe obstructive sleep apnea during his infancy. Continuous positive airway pressure was introduced at age 7 years and provided significant improvement in his nocturnal apnea and sleep apnea‐related symptoms, such as enuresis. Marfan syndrome is known to be associated with a high risk of sleep apnea because of its characteristic craniofacial and connective tissue abnormalities. Similarly, the severe craniofacial abnormalities in Loeys–Dietz syndrome may predispose patients to severe obstructive sleep apnea, even at a very young age. Despite the severity of obstructive sleep apnea in the propositus, the administration of continuous positive airway pressure was highly effective in alleviating his symptoms. In summary, severe obstructive sleep apnea was successfully treated using continuous positive airway pressure in a patient with Loeys–Dietz syndrome. Careful evaluation and aggressive intervention for the alleviation of obstructive sleep apnea is warranted in Loeys–Dietz syndrome. © 2013 Wiley Periodicals, Inc.
Gorlin–chaudhry–moss syndrome revisited: Expanding the phenotype
Authors: Rosti Rasim O. , Karaer Kadri , Karaman Birsen , Torun Deniz , Guran Sefik , Bahce Muhterem 
Published: May 2013

AbstractGorlin–Chaudhry–Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, ocular, and dental anomalies. Since 1960, only six affected individuals have been reported. We report a 4‐year and 6‐month‐old female patient with this phenotype and review the clinical presentation of all patients known so far. Previously unreported malformations of the extremities, larynx, and nose are also described, expanding the phenotype of this rare syndrome. Array‐CGH analysis did not show pathological deletions or duplications. © 2013 Wiley Periodicals, Inc.
Descriptive epidemiology of idiopathic clubfoot
Authors: Werler Martha M. , Yazdy Mahsa M. , Mitchell Allen A. , Meyer Robert E. , Druschel Charlotte M. , Anderka Marlene , Kasser James R. , Mahan Susan T. 
Published: May 2013

AbstractClubfoot is a common structural malformation, occurring in approximately 1/1,000 live births. Previous studies of sociodemographic and pregnancy‐related risk factors have been inconsistent, with the exception of the strong male preponderance and association with primiparity. Hypotheses for clubfoot pathogenesis include fetal constraint, Mendelian‐inheritance, and vascular disruption, but its etiology remains elusive. We conducted a population‐based case–control study of clubfoot in North Carolina, Massachusetts, and New York from 2007 to 2011. Mothers of 677 clubfoot cases and 2,037 non‐malformed controls were interviewed within 1 year of delivery about socio‐demographic and reproductive factors. Cases and controls were compared for child's sex, maternal age, education, cohabitation status, race/ethnicity, state, gravidity, parity, body mass index (BMI), and these pregnancy‐related conditions: oligohydramnios, breech delivery, bicornuate uterus, plural birth, early amniocentesis (<16 weeks), chorionic villous sampling (CVS), and plural gestation with fetal loss. Odds ratios (ORs) and 95% confidence intervals (CIs) were adjusted for state. Cases were more likely to be male (OR: 2.7; 2.2–3.3) and born to primiparous mothers (1.4; 1.2–1.7) and mothers with BMI ≥30 kg/m2 (1.4; 1.1–1.8). These associations were greatest in isolated and bilateral cases. ORs for the pregnancy‐related conditions ranged from 1.3 (breech delivery) to 5.6 (early amniocentesis). Positive associations with high BMI were confined to cases with a marker of fetal constraint (oligohydramnios, breech delivery, bicornuate uterus, plural birth), inheritance (family history in 1st degree relative), or vascular disruption (early amniocentesis, CVS, plural gestation with fetal loss). Pathogenetic factors associated with obesity may be in the causal pathway for clubfoot. © 2013 Wiley Periodicals, Inc.
Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36
Authors: Al‐Qattan Mohammad M. , Shamseldin Hanan E. , Al Mazyad Mohammed , Al Deghaither Saud , Alkuraya Fowzan S. 
Published: May 2013

AbstractThe ZRS (zone of polarizing activity regulatory sequence) is a long‐range limb‐specific Sonic Hedgehog (SHH) enhancer. In humans, the ZRS is located in chromosome 7q36 within intron 5 of LMBR1; approximately 1 Mb telomeric of SHH. Point mutations and duplications of the ZRS lead to a variable phenotype of preaxial polydactyly/triphalangeal thumb, tibial hypoplasia, radial ray deficiency, and type IV familial syndactyly (syndactyly of all digits with polydactyly). The ZRS is conserved among mammals and fish and regulates the expression of SHH. In mice, the conserved ZRS within the Lmbr1 gene is found in chromosome 5. The Hammertoe (Hm) mouse mutants have a mutation in the Lmbr1 locus and show syndactyly of digits 2–5 without polydactyly. No previous reports have described isolated syndactyly without polydactyly to be related to the LMBR1 locus in humans. In this report, we describe a family with simple cutaneous syndactyly involving digits 2–5, without polydactyly which is consistent with the phenotype of type III syndactyly. The locus we identified on ch7q36.3 is syntenic to the Hm locus; and affected members of the family had a phenotype analogous to Hm. Hence, the type of syndactyly described in the current report may be equivalent to Hm mice. © 2013 Wiley Periodicals, Inc.
Renal‐hepatic‐pancreatic dysplasia: A sibship with skeletal and central nervous system anomalies and NPHP3 mutation
Authors: Copelovitch Lawrence , O'Brien Maureen M. , Guttenberg Marta , Otto Edgar A. , Kaplan Bernard S. 
Published: May 2013

AbstractWe report on five consecutive sibs three with fatal renal‐hepatic‐pancreatic dysplastic (RHPD) syndrome and two pregnancies ending in early abortion. Three of the fetuses reached term and two survived for 15 and 58 days. They had diffusely cystic kidneys with absence of the distal collecting tubules, hepatic fibrosis, bile duct paucity, and pancreatic fibrosis with irregularly dilated ducts. These findings correspond to many of those reported by Ivemark et al. [Ivemark et al. (1959); Acta Paediat Scand 48: 1–11] as part of the RHPD syndrome. There are several notable differences in this family: one patient had hypocalvaria and a choroid plexus cyst at the right foramen of Luschka, multiple bone abnormalities including widened growth plates and abnormal development of the trabeculae of the ribs, “handle‐bar” clavicles, wedge defects of the inferior margin of several thoracic vertebrae; the second patient had hypocalvaria and abnormally developed brain with bilateral exposure of the insulae; and a third patient had anencephaly. Mutational analysis of the two who survived beyond post‐delivery demonstrated compound heterozygous novel frameshift mutations in the nephronophthisis type 3 gene (NPHP3). © 2013 Wiley Periodicals, Inc.
Natural rubber protein as interfacial enhancement for bio‐based nano‐fillers
Authors: Jong Lei 
Published: May 2013

ABSTRACTNatural rubber was enhanced with soy protein nano‐aggregates and carbon black using a hybrid process. The rubber composites reinforced with an optimum amount of soy protein or soy protein/carbon black showed useful tensile properties. The stress‐strain behaviors were analyzed with a micro‐mechanical model that describes the stress–strain measurements well. The model analysis provides insight into filler network characteristics and entanglement modulus. The composites were also analyzed with both linear and nonlinear viscoelastic properties. Temperature and frequency dependent modulus as well as the model analysis of stress softening effect describe the ability of soy protein to constraint polymer chains in the highly filled composites. For the composites reinforced with soy protein, the good tensile properties are attributed to good filler‐polymer adhesion through the compatibilization effect of natural rubber protein. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 130: 2188–2197, 2013
Alkali treatment of viscose cellulosic fibers from eucalyptus wood: Structural, morphological, and thermal analysis
Authors: Rojo Ester , Alonso M. Virginia , Domínguez Juan C. , Saz‐Orozco Belén Del , Oliet Mercedes , Rodriguez Francisco 
Published: May 2013

ABSTRACTThe modification of viscose cellulosic fibers from eucalyptus wood was performed by alkali treatment to improve the surface properties of the fibers for subsequent incorporation as reinforcement into phenolic composites. The treatment was carried out at various NaOH concentrations (1–20 wt %) and soaking times (1 and 2 h). The structural transformations of the fibers were determined by Fourier transform infrared spectroscopy (FTIR) and X‐ray diffraction (XRD). Morphological observations of the fibers were performed using scanning electron microscopy (SEM), and wettability between the fibers and a resol‐type phenolic resin was studied by contact angle measurements. Thermogravimetric analysis (TGA) was used to determine the thermal properties. The treatment of cellulosic fibers with 5 wt % NaOH for 2 h was selected as optimum. According to the analyses, these conditions increase the amorphous regions of the fibers (FTIR), reduce the crystallinity (XRD), swell the microfibers and fibers (SEM), and improve the wettability and the thermal stability. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 130: 2198–2204, 2013