bluuebunny/crossref_metadata_2025_split huggingface dataset:
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS‐I
Authors: Moran Rocio , Kuilenburg André B.P. , Duley John , Nabuurs Sander B. , Retno‐Fitri Aditia , Christodoulou John , Roelofsen Jeroen , Yntema Helger G. , Friedman Neil R. , van Bokhoven Hans , de Brouwer Arjan P.M. 
Published: January 2012

AbstractWe identified a novel missense mutation, c.424G>C (p.Val142Leu) in PRPS1 in a patient with uric acid overproduction without gout but with developmental delay, hypotonia, hearing loss, and recurrent respiratory infections. The uric acid overproduction accompanying this combination of symptoms suggests that the patient presented with phosphoribosylpyrophosphate (PRPP) synthetase superactivity, but recurrent infections have not been associated with superactivity until now. However, recurrent infections are a prominent feature of patients with Arts syndrome, which is caused by PRPS1 loss‐of‐function mutations, indicating that the patient reported here has an intermediate phenotype. Molecular modeling predicts that the p.Val142Leu change affects both allosteric sites that are involved in inhibition of PRPS1 and the ATP‐binding site, which suggests that this substitution can result both in a gain‐of‐function and loss‐of‐function of PRPP synthetase. This finding is in line with the normal PRPP synthetase activity in fibroblasts and the absence of activity in erythrocytes of the present patient. We postulate that the overall effect of the p.Val142Leu change on protein activity is determined by the cell type, being a gain‐of‐function in proliferating cells and a loss‐of‐function in postmitotic cells. Our results show that missense mutations in PRPS1 can cause a continuous spectrum of features ranging from progressive non‐syndromic postlingual hearing impairment to uric acid overproduction, neuropathy, and recurrent infections depending on the functional sites that are affected. © 2012 Wiley Periodicals, Inc.
Evidence‐based path to newborn screening for duchenne muscular dystrophy
Authors: Mendell Jerry R. , Shilling Chris , Leslie Nancy D. , Flanigan Kevin M. , al‐Dahhak Roula , Gastier‐Foster Julie , Kneile Kelley , Dunn Diane M. , Duval Brett , Aoyagi Alexander , Hamil Cindy , Mahmoud Maha , Roush Kandice , Bird Lauren , Rankin Chelsea , Lilly Heather , Street Natalie , Chandrasekar Ram , Weiss Robert B. 
Published: January 2012

AbstractObjective:Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false‐positive testing. In this report, we introduce a 2‐tier system using the dried blood spot to first assess CK with follow‐up DMD gene testing.Methods:A fluorometric assay based upon the enzymatic transphosphorylation of adenosine diphosphate to adenosine triphosphate was used to measure CK activity. Preliminary studies established a population‐based range of CK in newborns using 30,547 deidentified anonymous dried blood spot samples. Mutation analysis used genomic DNA extracted from the dried blood spot followed by whole genome amplification with assessment of single‐/multiexon deletions/duplications in the DMD gene using multiplex ligation‐dependent probe amplification.Results:DMD gene mutations (all exonic deletions) were found in 6 of 37,649 newborn male subjects, all of whom had CK levels >2,000U/l. In 3 newborns with CK >2,000U/l in whom DMD gene abnormalities were not found, we identified limb‐girdle muscular dystrophy gene mutations affecting DYSF, SGCB, and FKRP.Interpretation:A 2‐tier system of analysis for newborn screening for DMD has been established. This path for newborn screening fits our health care system, minimizes false‐positive testing, and uses predetermined levels of CK on dried blood spots to predict DMD gene mutations. ANN NEUROL 2012;
Dynamics of hemispheric dominance for language assessed by magnetoencephalographic imaging
Authors: Findlay Anne M. , Ambrose Josiah B. , Cahn‐Weiner Deborah A. , Houde John F. , Honma Susanne , Hinkley Leighton B. N. , Berger Mitchel S. , Nagarajan Srikantan S. , Kirsch Heidi E. 
Published: January 2012

AbstractObjective:The goal of the current study was to examine the dynamics of language lateralization using magnetoencephalographic (MEG) imaging, to determine the sensitivity and specificity of MEG imaging, and to determine whether MEG imaging can become a viable alternative to the intracarotid amobarbital procedure (IAP), the current gold standard for preoperative language lateralization in neurosurgical candidates.Methods:MEG was recorded during an auditory verb generation task and imaging analysis of oscillatory activity was initially performed in 21 subjects with epilepsy, brain tumor, or arteriovenous malformation who had undergone IAP and MEG. Time windows and brain regions of interest that best discriminated between IAP‐determined left or right dominance for language were identified. Parameters derived in the retrospective analysis were applied to a prospective cohort of 14 patients and healthy controls.Results:Power decreases in the beta frequency band were consistently observed following auditory stimulation in inferior frontal, superior temporal, and parietal cortices; similar power decreases were also seen in inferior frontal cortex prior to and during overt verb generation. Language lateralization was clearly observed to be a dynamic process that is bilateral for several hundred milliseconds during periods of auditory perception and overt speech production. Correlation with the IAP was seen in 13 of 14 (93%) prospective patients, with the test demonstrating a sensitivity of 100% and specificity of 92%.Interpretation:Our results demonstrate excellent correlation between MEG imaging findings and the IAP for language lateralization, and provide new insights into the spatiotemporal dynamics of cortical speech processing. ANN NEUROL 2012;
Fabrication of Au and Ag Bi‐metallic nanocomposite for antimicrobial applications
Authors: Ranga Reddy P. , Varaprasad K. , Narayana Reddy N. , Mohana Raju K. , Reddy N. Subbarami 
Published: January 2012

AbstractHydrogel silver nanocomposites have shown immense potential in many biomedical applications, specifically wound healing. The combination of bi‐metallic (Ag, Au) hydrogel nanocomposites are developed to enhance their antimicrobial activity. This paper presents the fabrication of bi‐metallic nanocomposites obtained from the synthesis of acrylamide (AM) and 2‐acrylamido‐2‐methyl‐1‐propanesulfonic acid (AMPS) based hydrogels for antimicrobial applications. The nanocomposite formation was confirmed by scanning electron microscopy (SEM), thermal analysis (TGA/DSC), as well as X‐ray diffraction (XRD) methods. The bi‐metallic nanocomposite hydrogel has shown significant antibacterial activity on bacillus. Therefore, these bi‐metallic antibacterial materials are promising candidates for a wide range of biomedical applications. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Synergistic interaction of konjac glucomannan and gellan gum investigated by rheology and texture analysis
Authors: Mei T. , Xu X. , Li B. , Li J. , Cui B. , Zhou B. , Ablaye W. 
Published: January 2012

AbstractThe rheological kinetics of konjac glucomannan and gellan gum mixed sols were studied using rotational concentric cylinder viscometer. The effects of polymers weight ratio, shear rate, and temperature were systematically investigated. The curves showed a Newtonian plateau followed by strong shear thinning that can be described by a power law dependence on the shear rate. The dynamic viscoelastic character was evaluated by measurements of small‐deformation oscillatory. After adding some cations, the mixed sols turned into mixed gels. The contribution of Na+, K+, Ca2+, and Zn2+ at different concentration was also evaluated by texture analysis. The results reveal a strong dependence of the structural properties of different samples on their preparation conditions. A fine turning of the properties of the mixed sols is possible through the change of the temperature preparation and/or the polymer weight ratio. The texture properties of the mixed gels were also possibly influenced significantly by the cations. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Improving wheat gluten materials properties by Kraft lignin addition
Authors: Kunanopparat Thiranan , Menut Paul , Morel Marie‐Hélène , Guilbert Stéphane 
Published: January 2012

AbstractThe industrial production of wheat gluten (WG)‐based biomaterials implies to improve their actual mechanical properties as well as to reduce their water sensitivity. In this study, the effect of Kraft lignin (KL) content on the processability and on the physical properties of WG materials was investigated. WG plasticized with glycerol was blended with KL, and processed into materials by mixing and thermomolding. Materials were characterized by dynamic mechanical thermal analysis, tensile test, and water absorption measurements. The introduction of KL in plasticized WG resulted in an increase of the material glass transition temperature (Tg) and in a strong decrease of the rubbery storage modulus, which will favor industrial processing. The increase in Tg did not follow a simple mixing rule, demonstrating specific interaction between KL and WG. The resulting materials effectively showed improved properties when compared with pure WG‐based materials: they exhibited higher tensile strength and lower water sensitivity in ambient conditions. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Viscosity modeling of a medium reactive unsaturated polyester resin used for liquid composite molding process
Authors: Raghu Raja Pandiyan K. , Neogi Swati 
Published: January 2012

AbstractThe development of new composite product for an application through liquid composite molding (LCM) process simulation requires submodels describing the raw material characteristics. The viscosity during resin cure is the major submodel required for the effective simulation of mold‐filling phase of LCM process. The viscosity of the resin system during mold filling changes as the cure reaction progresses. Applied process temperature also affects the viscosity of the resin system. Hence, a submodel describing the resin viscosity as a function of extent of cure and process temperature is required for the LCM process simulation. In this study, a correlation for viscosity during curing of medium reactive unsaturated polyester resin, which is mostly used for the LCM process, has been proposed as a function of temperature and degree of cure. The viscosity and the degree of cure of reacting resin system at different temperatures were measured by performing isothermal rheological and isothermal differential scanning calorimetry experiments, respectively. A nonlinear‐regression analysis of viscosity and degree of cure data were performed to quantify the dependence of viscosity on temperature and extent of cure reaction. Comparisons of model solutions with our experimental data showed that the proposed empirical model is capable of capturing resin viscosity as a function of extent of cure and temperature qualitatively as well as quantitatively. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Association of a Toll‐like receptor 1 polymorphism with heightened Th1 inflammatory responses and antibiotic‐refractory Lyme arthritis
Authors: Strle Klemen , Shin Junghee J. , Glickstein Lisa J. , Steere Allen C. 
Published: January 2012

AbstractObjectiveSingle‐nucleotide polymorphisms (SNPs) that alter immune function, inflammatory responses, and disease susceptibility have been identified in several genes encoding Toll‐like receptors (TLRs). The TLR SNPs with the best evidence of an effect on immune function are those in TLR1 (1805GG), TLR2 (2258GA), and TLR5 (1174CT). This study was undertaken to assess the frequency and functional outcomes of these polymorphisms in patients with Lyme disease.MethodsSNP frequencies and functional outcomes were assessed in 248 patients with Lyme disease. Cytokine and chemokine levels were determined using multiplex assays in the serum of patients with erythema migrans (EM), joint fluid of patients with Lyme arthritis, and supernatants of Borrelia burgdorferi–stimulated peripheral blood mononuclear cells (PBMCs) from patients with Lyme arthritis.ResultsThe frequency of the TLR1‐1805GG polymorphism was greater in patients with antibiotic‐refractory arthritis compared with patients with EM or those with antibiotic‐responsive arthritis. Early in the illness, patients with EM carrying 1805GG, primarily those infected with B burgdorferi 16S–23S ribosomal spacer RNA intergenic type 1 (RST1) strains, had higher serum levels of interferon‐γ (IFNγ), CXCL9, and CXCL10 and had more severe infection than EM patients carrying the 1805TG/TT polymorphism. These inflammatory responses were amplified in patients with Lyme arthritis, and the highest responses were observed in patients with 1805GG in the antibiotic‐refractory group who had been infected with RST1 strains. When PBMCs from patients with Lyme arthritis were stimulated with a B burgdorferi RST1 strain, the 1805GG group had a significantly larger fold increase in the levels of IFNγ, CCL2, CXCL9, and CXCL10 compared to the 1805TG/TT group. In contrast, the TLR2 and TLR5 polymorphisms did not vary in frequency or function among the groups.ConclusionThe TLR1‐1805GG polymorphism in B burgdorferi RST1–infected patients was associated with stronger Th1‐like inflammatory responses, an environment that may set the stage for antibiotic‐refractory arthritis.
Techno‐economic analysis of biobased chemicals production via integrated catalytic processing
Authors: Brown Tristan R. , Zhang Yanan , Hu Guiping , Brown Robert C. 
Published: January 2012

AbstractWe evaluate the economic feasibility of a fast pyrolysis facility producing biobased commodity chemicals based on various manifestations of Integrated Catalytic Processing (ICP). Five scenarios are analyzed: fluid catalytic cracking (FCC) of whole pyrolysis oil (WPO); one‐stage hydrotreating and FCC of WPO; FCC of the aqueous phase of pyrolysis oil (APPO); one‐stage hydrotreating and FCC of the APPO; and two‐stage hydrotreating followed by FCC of the APPO.We calculate the internal rate of return (IRR) for each scenario as functions of the costs of feedstock, hydrogen, and catalyst, and projected revenues for the facility. The assumed feedstock cost is $83/MT for mixed wood. The assumed hydrogen cost is $3/kg. Catalyst costs are based on December 2010 prices and projected revenues are based on August 2010 petrochemical prices.The analysis indicates that a facility employing FCC of WPO or APPO without hydrotreating is unable to generate a positive IRR. Employment of two‐stage hydrotreating significantly increases the facility IRR, although IRRs in excess of 10% are only attained when higher pyrolysis oil yields (70 wt%) are assumed. © 2012 Society of Chemical Industry and John Wiley & Sons, Ltd
Associated malformations among infants with anophthalmia and microphthalmia
Authors: Stoll Claude , Dott Beatrice , Alembik Yves , Roth Marie‐Paule 
Published: January 2012

AbstractBACKGROUNDInfants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies.METHODSThe purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births.RESULTSOf the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel‐Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions.CONCLUSIONSThe frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations—especially musculoskeletal, cardiac, and central nervous system anomalies—may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. © Birth Defects Research (Part A), 2012. © 2012 Wiley Periodicals, Inc.
A thermally baffled device for highly stabilized convective PCR
Authors: Chang Hsiao‐Fen Grace , Tsai Yun‐Long , Tsai Chuan‐Fu , Lin Ching‐Ko , Lee Pei‐Yu , Teng Ping‐Hua , Su Chen , Jeng Chien‐Chung 
Published: January 2012

AbstractRayleigh‐Bénard convective PCR is a simple and effective design for amplification of DNA. Convective PCR is, however, extremely sensitive to environmental temperature fluctuations, especially when using small‐ diameter test tubes. Therefore, this method is inherently unstable with limited applications. Here, we present a convective PCR device that has been modified by adding thermal baffles. With this thermally baffled device the influence from fluctuations in environmental temperature were significantly reduced, even in a wind tunnel (1 m/s). The thermally baffled PCR instrument described here has the potential to be used as a low‐cost, point‐of‐care device for PCR‐based molecular diagnostics in the field.
Body composition and outcome in patients undergoing resection of colorectal liver metastases19
Authors: van Vledder M G , Levolger S , Ayez N , Verhoef C , Tran T C K , IJzermans J N M 
Published: January 2012

Abstract

Background
Recent evidence suggests that depletion of skeletal muscle mass (sarcopenia) and an increased amount of intra-abdominal fat (central obesity) influence cancer statistics. This study investigated the impact of sarcopenia and central obesity on survival in patients undergoing liver resection for colorectal liver metastases (CLM).

Methods
Diagnostic imaging from patients who had hepatic resection for CLM in one centre between 2001 and 2009, and who had assessable perioperative computed tomograms, was analysed retrospectively. Total cross-sectional areas of skeletal muscle and intra-abdominal fat, and their influence on outcome, were analysed.

Results
Of the 196 patients included in the study, 38 (19·4 per cent) were classified as having sarcopenia. Five-year disease-free (15 per cent versus 28·5 per cent in patients without sarcopenia; P = 0·002) and overall (20 per cent versus 49·9 per cent respectively; P &lt; 0·001) survival rates were lower for patients with sarcopenia at a median follow-up of 29 (range 1–97) months. Sarcopenia was an independent predictor of worse recurrence-free (hazard ratio (HR) 1·88, 95 per cent confidence interval 1·25 to 2·82; P = 0·002) and overall (HR 2·53, 1·60 to 4·01; P &lt; 0·001) survival. Central obesity was associated with an increased risk of recurrence in men (P = 0·032), but not in women (P = 0·712).

Conclusion
Sarcopenia has a negative impact on cancer outcomes following resection of CLM.
Systematic review of outcomes after intersphincteric resection for low rectal cancer
Authors: Martin S T , Heneghan H M , Winter D C 
Published: January 2012

Abstract

Background
For a select group of patients proctectomy with intersphincteric resection (ISR) for low rectal cancer may be a viable alternative to abdominoperineal resection, with good oncological outcomes while preserving sphincter function. The purpose of this systematic review was to evaluate the current evidence regarding oncological outcomes, morbidity and mortality, and functional outcomes after ISR for low rectal cancer.

Methods
A systematic review of the literature was undertaken to evaluate evidence regarding oncological outcomes, morbidity and mortality after ISR for low rectal cancer. Three major databases (PubMed, MEDLINE and the Cochrane Library) were searched. The review included all original articles reporting outcomes after ISR, published in English, from January 1950 to March 2011.

Results
Eighty-four studies were identified. After applying inclusion and exclusion criteria, 14 studies involving 1289 patients were included (mean age 59·5 years, 67·0 per cent men). R0 resection was achieved by ISR in 97·0 per cent. The operative mortality rate was 0·8 per cent and the cumulative morbidity rate 25·8 per cent. Median follow-up was 56 (range 1–227) months. The mean local recurrence rate was 6·7 (range 0–23) per cent. Mean 5-year overall and disease-free survival rates were 86·3 and 78·6 per cent respectively. Functional outcome was reported in eight studies; among these, the mean number of bowel motions in a 24-h period was 2·7.

Conclusion
Oncological outcomes after ISR for low rectal cancer are acceptable, with diverse, often imperfect functional results. These data will aid the clinician when counselling patients considering an ISR for management of low rectal cancer.
Managing your online professional identity
Authors: Jones Teresa D. , Swain Deborah E. 
Published: January 2012

AbstractEditor's SummaryConfusion around names and identity features can undermine professional standing, but it can be avoided by carefully managing one's online personal and professional identity. It is advisable to routinely check hits on one's name online to be sure desired information is not clouded by mistakes or misinformation or overshadowed by another with the same name. Professionals should create personal e‐portfolios and tie them to LinkedIn and other appropriate social networking sites. Active participation on those sites helps boost search returns tied with one's professional identity. Promotional websites such as Vizilibity.com can be made more effective by adding keywords to highlight interests and achievements, while MyWebCareer.com evaluates one's networking profile. By customizing privacy settings, one can limit access to personal information. Managing personal information takes time but is critical to be sure online information accurately represents your identity.
Enabling personal knowledge management with collaborative and semantic technologies
Authors: Bedford Denise A. D. 
Published: January 2012

AbstractEditor's SummaryPersonal knowledge management (PKM) has come to be a central and critical element in the spectrum of knowledge management. The context and control of knowledge management is shifting from global and organizational levels to communities and ultimately to individuals. In developing a model for managing personal intellectual capital, two basic issues stand out. First, we must attend to the broad context of the individual represented on social networks, collaborative environments and other channels. Second, individuals should assume ownership, active management and control over information about themselves by building a formal PKM profile. We can collect elements of our personal information, aided by semantic and knowledge technologies for discovery and normalization, to compile and manage as our own intellectual capital. Work in progress at Kent State University has highlighted important lessons in personal knowledge management, including the foundational role of semantics and the need for a standard definition for a personal data model.