bluuebunny/crossref_metadata_2025_split huggingface dataset:
The genotype–phenotype correlation in Pompe disease
Authors: Kroos Marian , Hoogeveen‐Westerveld Marianne , van der Ploeg Ans , Reuser Arnold J.J. 
Published: January 2012

AbstractPompe disease is an autosomal recessive lysosomal glycogen storage disorder that is caused by acid α‐glucosidase (GAA) deficiency and is due to pathogenic sequence variations in the corresponding GAA gene. The correlation between genotypes and phenotypes is strict, in that patients with the most severe phenotype, classic infantile Pompe disease, have two pathogenic mutations, one in each GAA allele, that prevent the formation of GAA or totally obliterates its function. All patients with less progressive phenotypes have at least one sequence variation that allows normal or low level synthesis of GAA leading to the formation of analytically measurable, low level GAA activity in most cases. There is an overall trend of finding higher GAA enzyme levels in patients with onset of symptoms in adulthood when compared to patients who show clinical manifestations in early childhood, aged 0–5 years, with a rapidly progressive course, but who lack the severe characteristics of classic infantile Pompe disease. However, several cases have been reported of adult‐onset disease with very low GAA activity, which in all those cases corresponds with the GAA genotype. The clinical diversity observed within a large group of patients with functionally the same GAA genotype and the same c.‐32‐13C > T haplotype demonstrates that modifying factors can have a substantial effect on the clinical course of Pompe disease, disturbing the GAA genotype–phenotype correlation. The present day challenge is to identify these factors and explore them as therapeutic targets. © 2012 Wiley Periodicals, Inc.
Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques
Authors: Young Sarah P. , Piraud Monique , Goldstein Jennifer L. , Zhang Haoyue , Rehder Catherine , Laforet Pascal , Kishnani Priya S. , Millington David S. , Bashir Mustafa R. , Bali Deeksha S. 
Published: January 2012

AbstractDefining disease severity in patients with Pompe disease is important for prognosis and monitoring the response to therapies. Current approaches include qualitative and quantitative assessments of the disease burden, and clinical measures of the impact of the disease on affected systems. The aims of this manuscript were to review a noninvasive urinary glucose tetrasaccharide biomarker of glycogen storage, and to discuss advances in imaging techniques for determining the disease burden in Pompe disease. The glucose tetrasaccharide, Glcα1‐6Glcα1‐4Glcα1‐4Glc (Glc4), is a glycogen‐derived limit dextrin that correlates with the extent of glycogen accumulation in skeletal muscle. As such, it is more useful than traditional biomarkers of tissue damage, such as CK and AST, for monitoring the response to enzyme replacement therapy in patients with Pompe disease. Glc4 is also useful as an adjunctive diagnostic test for Pompe disease when performed in conjunction with acid alpha‐glucosidase activity measurements. Review of clinical records of 208 patients evaluated for Pompe disease by this approach showed Glc4 had 94% sensitivity and 84% specificity for Pompe disease. We propose Glc4 is useful as an overall measure of disease burden, but does not provide information on the location and distribution of excess glycogen accumulation. In this manuscript we also review magnetic resonance spectroscopy and imaging techniques as alternative, noninvasive tools for quantifying glycogen and detailing changes, such as fibrofatty muscle degeneration, in specific muscle groups in Pompe disease. These techniques show promise as a means of monitoring disease progression and the response to treatment in Pompe disease. © 2012 Wiley Periodicals, Inc.
The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management
Authors: Kishnani Priya S. , Beckemeyer Alexandra A. , Mendelsohn Nancy J. 
Published: January 2012

AbstractPompe disease is an autosomal recessive neuromuscular disorder marked by progressive muscle weakness due to lysosomal buildup of glycogen. Presentation is described as a spectrum, varying by age of onset, organ involvement, and degree of myopathy. Given the phenotypic variability, Pompe disease is broadly classified into an infantile form and a late onset (juvenile, childhood, adult onset) form. Prior to the advent of enzyme replacement therapy (ERT) with alglucosidase alfa and approval for human use in 2006, the natural history was limited due to death before age 2 years for infantile onset cases and significant morbidity and early mortality for late onset Pompe disease (LOPD). ERT with alglucosidase alfa redefined the once fatal outcome in infantile Pompe, establishing an emergent phenotype. Treatment in late onset patients resulted in improved outcomes, enhancing understanding of the phenotype, presentation, and extent of organ involvement. This Issue of the Seminars seeks to enumerate the recent advancements in the field of Pompe disease, including newborn screening, novel therapeutic targets, new insights in the pathophysiology including role of autophagy, and impacts of long‐term disease burden and CNS glycogen accumulation on cognition in infantile survivors. It also addresses immunological challenges and the critical role of immunomodulation in ERT treatment outcome. Other topics discussed include the role of biomarkers in monitoring disease progression and treatment responses, the role of genotype in defining phenotype and treatment response, better insights into the clinical presentations in LOPD and finally the importance of a multidisciplinary approach to care with the role of physical therapy as an example. Many gaps in our scientific understanding of this disease still remain; however, we hope the next decade will bring new knowledge and therapies to the horizon. © 2012 Wiley Periodicals, Inc.
Interrater agreement of nasal endoscopy for chronic rhinosinusitis
Authors: Raithatha Roheen , Anand Vijay K. , Mace Jess C. , Smith Timothy L. , Schaberg Madeleine R. , Nyquist Gurston G. , Hwang Peter H. , Senior Brent A. , Stankiewicz James A. , Tabaee Abtin 
Published: January 2012

AbstractBackground:Nasal endoscopy is a routine, important diagnostic tool in the evaluation of chronic rhinosinusitis (CRS). Although the procedure is ideally “objective,” the subjective nature of endoscopy interpretation and lack of standardization are potential limitations. The goal of this study was to examine the interrater agreement of various categories of nasal endoscopy findings in patients undergoing evaluation for CRS.Methods:Fourteen patients (28 sides) with CRS underwent clinical evaluation, SNOT‐22, sinus computed tomography (CT), and digital video nasal endoscopy. Five academic rhinologists blindly reviewed the endoscopies for structural anatomic issues, inflammatory rhinosinusitis findings, and atypical lesions. Statistical comparison of the endoscopy interpretations was performed using the unweighted Fleiss' kappa statistic (Kf).Results:The mean Lund‐Mackay CT scan score was 7.8 (standard deviation [SD] 4.9) and the mean SNOT‐22 score was 35.8 (SD 22.7). Significant variability was noted among the raters with respect to the various categories of nasal endoscopy findings. The overall levels of interrater agreement for the various categories were as follows: “almost perfect” for atypical lesions (Kf = 0.912); “substantial” for nasal polyps (Kf = 0.693); “moderate” for nasal discharge (Kf = 0.422) and mucosal inflammatory changes of the middle turbinate (Kf = 0.413); and “fair” for edema of the middle meatus (Kf = 0.214), obstruction by nasal septum deviation (Kf = 0.240), and obstruction by the middle turbinate (Kf = 0.276).Conclusion:Significant variability was noted in the interrater agreement for nasal endoscopy findings in this study, with relatively limited agreement on some of the key findings of the procedure. Additional investigation and standardization of nasal endoscopy interpretation is required to improve the clinical utility of the procedure. © 2011 ARS‐AAOA, LLC.
Examining the safety of prednisolone acetate 1% nasal spray for treatment of nasal polyposis
Authors: Liang Jonathan , Strong E. Bradley 
Published: January 2012

AbstractBackground:Topical intranasal corticosteroid sprays are a mainstay of treatment for nasal polyposis. Newer treatment strategies for refractory polypoid disease include “off label” topical steroids such as prednisolone acetate. This study investigates the safety of intranasal prednisolone acetate; evaluating its effect on serum cortisol and adrenocorticotropin hormone (ACTH) levels.Methods:This retrospective study included adult patients with refractory nasal polyposis, who had not taken oral steroids for 3 months prior to entry into the study. Patients applied 2 sprays of 1% prednisolone acetate delivered via a 15‐mL standardized spray bottle twice daily. Morning serum cortisol and ACTH levels were collected prior to treatment and 6 to 8 weeks posttreatment. Pretreatment and posttreatment values were compared.Results:Nine patients were included in this study. The average serum cortisol and ACTH levels prior to treatment was 12.09 μg/dL (95% confidence interval [CI], 6.94–17.24) and 12.33 ng/L (95% CI, 8.97–15.70), respectively. After 6 to 8 weeks of treatment, the average serum cortisol and ACTH levels were 11.76 μg/dL (95% CI, 9.51–14.00) and 13.22 ng/L (95% CI, 10.68–15.77), respectively. There was no statistically significant difference between pretreatment and posttreatment values for cortisol (p = 0.89) or ACTH (p = 0.63).Conclusion:Intranasal delivery of prednisolone acetate, at the specified dose, does not result in suppression of the adrenal axis. It can be considered as a safe alternative for management of aggressive nasal polyposis refractory to traditional treatment strategies. © 2012 ARS‐AAOA, LLC.
Comparison of speech parameters and olfaction using different tracheotomy speaking valves
Authors: Shikani Alan H. , Dietrich‐Burns Katie 
Published: January 2012

AbstractBackground:The objective of this work was to obtain a controlled subjective and objective in vivo clinical comparison of the Passy‐Muir, Shiley, and Ball speaking valves.Methods:Ten patients free of laryngeal pathology but dependent on tracheotomy for respiration were tested with each of the speaking valves. Olfaction was assessed for each patient using the University of Pennsylvania Smell Identification Test (UPSIT). Acoustic and perceptual analyses included subjective assessments, noninstrumental objective assessments (including maximum phonation time, and S:Z ratio), and instrumental objective assessments (including fundamental frequency:maximum phonation range, vocal intensity, perturbation, naturalness, and turbulence). Oxygen saturation was assessed by pulse oximetry.Results:There was a highly significant statistical difference in olfaction and speech naturalness, in favor of the Ball valve (The Airway Company, Forest Hill, MD). The Ball valve's speech parameters were generally better than with the Passy‐Muir and Shiley valves, including maximum phonation, S:Z ratio, jitter, noise, and turbulence, although the differences were not statistically significant. There were no differences among the valves in oxygen saturation levels.Conclusion:This study illustrates that olfaction and certain speech parameters, most noticeably speech naturalness, are significantly improved with the Ball valve as compared to the Passy‐Muir and Shiley valves. © 2012 ARS–AAOA, LLC.
Second‐order response of a uniform three‐dimensional electron gas to a longitudinal electric field
Authors: Mikhailov S.A. 
Published: January 2012

AbstractThe linear electromagnetic response of a uniform three‐dimensional electron gas to a longitudinal electric field is determined by the known Lindhard dielectric function ϵqω. Using a similar approach, we derive exact analytical expressions for the second‐order nonlinear electromagnetic response of the electron gas. We calculate the second‐order polarizability α(2)qω of the system and, within the self‐consistent‐field approach, the second‐order response function, analogous to ϵqω. The best conditions for the observation of the second‐harmonic generation are analyzed.
Synthesis of a novel intumescent flame retardant and its application in EVM
Authors: Liu Hui , Xiong Yuanqin , Xu Weijian , Zhang Yingjun , Pan Shuaijun 
Published: January 2012

AbstractA novel phosphorous‐nitrogen structure containing intumescent flame retardant, 4,4‐diaminodiphenyl methane bi(2,2‐dimethyl‐1,3‐propanediol) phosphoramidate (DBDPP) was synthesized and characterized. Thermal stability and flammability properties of ethylene vinyl‐acetate copolymer rubber(EVM)/DBDPP composites were investigated by thermogravimetric analysis (TGA), limiting oxygen index (LOI) test and UL‐94 measurement, respectively. The results showed that the addition of DBDPP enhanced the thermal stability and flame retardancy of EVM significantly. The weight of residues improved greatly with the addition of DBDPP. SEM investigations revealed that a strong charred layer was formed from EVM/DBDPP composites during combustion. It is confirmed that the char structure was a critical factor for flame retardancy of EVM rubber. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Rheokinetic of polyurethane crosslinking time‐temperature‐transformation diagram for rotational molding
Authors: Farzaneh S. , Riviere S. , Tcharkhtchi A. 
Published: January 2012

AbstractIn this work, the rheokinetic of polyurethane crosslinking was studied by different methods: differential scanning calorimetric (DSC), rheometry, and infrared spectrometry. The conversion ratio and the glass transition temperature were followed by time of reaction. The results of the isothermal and nonisothermal test were compared. The evolution of viscosity was measured at different frequencies. The intersection of these curves is considered as gel point. A simplified mechanism has been proposed for crosslinking reactions. Based on this mechanism, a kinetic model describing the evolution of reactive system was developed. This model then was compared with the results of experiments performed by infrared spectrometry. The time‐temperature‐transformation diagram was established showing the evolution of physical state change of the reactive system. This diagram may be used to evaluate the zone of rotomoldability of the reactive polyurethane. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Oligomers of poly(anhydride): Study of interaction in coating binder
Authors: Lasne‐Deschamps Anne‐Cécile , Faÿ Fabienne , Sire Olivier , Linossier Isabelle , Vallée‐Réhel Karine 
Published: January 2012

AbstractPolyanhydrides are largely used in biomedical and pharmaceutical fields because of their biodegradability and controlled degradation. In this work, oligomers were investigated as film binders for environmental applications. To overcome the main disadvantages of polyanhydrides (low solubility in common solvents and high melting points), oligomers based on sebacic acid were prepared. Characterization was carried out by nuclear magnetic resonance and electrospray ionization to obtain chemical structures of the products. The formation of weak interactions, which confer cohesion between chains, allows film properties to be observed. The impact of the solvent polarity on the specific organization was investigated by a combination of focused methods: capillary viscosimetry, IR spectroscopy, polarized light microscopy, and X‐ray diffraction. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Commercial, high‐impact polypropylenes: Composition and chain structure as revealed by temperature‐gradient extraction fractionation
Authors: Mahdavi Hossein , Enayati Nook Mojtaba 
Published: January 2012

AbstractFour different grades of commercial, high‐impact polypropylene (hiPP) were fractionated by temperature‐gradient extraction fractionation, and the chain structure and melting behavior of the fractions were studied by Fourier transform infrared spectroscopy and differential scanning calorimetry. Furthermore, the morphology of the disperse phase in the resins was characterized by scanning electron microscopy of the microtome‐cut etched and original samples. The results show that there was a strong relation between the chain structure, content, and distribution of the dispersed phase and the mechanical properties of hiPP. These parameters of the elastomeric phase are really critical in reaching the best rigidity‐impact balance in hiPP. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Preparation and characterization of crosslinked chitosan microspheres for the colonic delivery of 5‐fluorouracil
Authors: Bhat Subramanya K. , Keshavayya J. , Kulkarni Venkatrao H. , Reddy Venugoapala K. R. , Kulkarni Preeti V. , Kulkarni Anandrao R. 
Published: January 2012

AbstractIn this work, we attempted to develop a simple and inexpensive colon specific pulsatile drug‐delivery system using chitosan microspheres loaded with 5‐fluorouracil (5‐FU) using an enteric‐coated soft gelatin capsule. Chemical crosslinking by glutaraldehyde and interactions between the polymer and the drug were determined by Fourier transform infrared spectral study. Scanning electron microscopy of the microspheres revealed spherical shapes with smooth surfaces. Differential scanning calorimetry studies confirmed the molecular dispersion of the drug in the polymer matrix. Three different formulations (i.e., F1, F2, and F3) were prepared by the variation of the amount of 5‐FU. Encapsulation efficiencies of 5.5, 10.8, and 17.9% for drug loadings of 10, 20, and 50%, respectively, were obtained. In vitro release studies were conducted at pH 1.2 and pH 7.4 (to simulate actual gastrointestinal fluid and gastrointestinal tract conditions, respectively). The results indicate that chitosan microspheres released 5‐FU in both acidic (60%) and basic pH (40%) conditions, whereas the capsule (filled with chitosan microspheres) showed only 8–10% release in acidic media and nearly 90% in basic media within 12 h. The newly designed pulsatile capsule device could be used for targeting 5‐FU to the colon. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Reefs and islands of the Chagos Archipelago, Indian Ocean: why it is the world's largest no‐take marine protected area
Authors: Sheppard C. R. C. , Ateweberhan M. , Bowen B. W. , Carr P. , Chen C. A. , Clubbe C. , Craig M. T. , Ebinghaus R. , Eble J. , Fitzsimmons N. , Gaither M. R. , Gan C‐H. , Gollock M. , Guzman N. , Graham N. A. J. , Harris A. , Jones R. , Keshavmurthy S. , Koldewey H. , Lundin C. G. , Mortimer J. A. , Obura D. , Pfeiffer M. , Price A. R. G. , Purkis S. , Raines P. , Readman J. W. , Riegl B. , Rogers A. , Schleyer M. , Seaward M. R. D , Sheppard A. L. S. , Tamelander J. , Turner J. R. , Visram S. , Vogler C. , Vogt S. , Wolschke H. , Yang J. M‐C. , Yang S‐Y. , Yesson C. 
Published: January 2012

ABSTRACT

The Chagos Archipelago was designated a no‐take marine protected area (MPA) in 2010; it covers 550 000 km2, with more than 60 000 km2 shallow limestone platform and reefs. This has doubled the global cover of such MPAs.
It contains 25–50% of the Indian Ocean reef area remaining in excellent condition, as well as the world's largest contiguous undamaged reef area. It has suffered from warming episodes, but after the most severe mortality event of 1998, coral cover was restored after 10 years.
Coral reef fishes are orders of magnitude more abundant than in other Indian Ocean locations, regardless of whether the latter are fished or protected.
Coral diseases are extremely low, and no invasive marine species are known.
Genetically, Chagos marine species are part of the Western Indian Ocean, and Chagos serves as a ‘stepping‐stone’ in the ocean.
The no‐take MPA extends to the 200 nm boundary, and. includes 86 unfished seamounts and 243 deep knolls as well as encompassing important pelagic species.
On the larger islands, native plants, coconut crabs, bird and turtle colonies were largely destroyed in plantation times, but several smaller islands are in relatively undamaged state.
There are now 10 ‘important bird areas’, coconut crab density is high and numbers of green and hawksbill turtles are recovering.
Diego Garcia atoll contains a military facility; this atoll contains one Ramsar site and several ‘strict nature reserves’. Pollutant monitoring shows it to be the least polluted inhabited atoll in the world. Today, strict environmental regulations are enforced.
Shoreline erosion is significant in many places. Its economic cost in the inhabited part of Diego Garcia is very high, but all islands are vulnerable.
Chagos is ideally situated for several monitoring programmes, and use is increasingly being made of the archipelago for this purpose. Copyright © 2012 John Wiley & Sons, Ltd.
Magnetic Gradient and Electrical Resistivity Tomography Surveys in Meroe, the Capital City of the Kush Kingdom, Sudan
Authors: Mohamed‐Ali M. A. , Herbich T. , Grzymski K. , Hobbs R. 
Published: January 2012

ABSTRACTOne of the most important archaeological sites in Sudan is Meroe, capital city of the kingdom of Kush (800 bc to ad 400). The site is located in the Nile valley, about 200 km northeast of Khartoum. The most prominent feature among the ruins of Meroe is the Royal City: a stone‐walled enclosure containing remains of palaces, governmental buildings and temples. The current study presents the results of integrated magnetic gradient and electrical resistivity tomography surveys in unexplored and partly explored areas in the central part of the site and in the southern part of the Royal City. The main enclosure wall, remains of sandstone and red‐brick buildings, and a number of small archaeological structures have been traced on magnetic maps. The extent of buildings, identified by magnetic survey, has been complemented by information on the depth of structures provided by electrical resistivity tomography. The geophysical results have been partly verified through excavation. Copyright © 2012 John Wiley & Sons, Ltd.
Hydrodynamic and kinetic study of cellulase production by Trichoderma reesei with pellet morphology
Authors: Yu Liang , Chao Yapeng , Wensel Pierre , Chen Shulin 
Published: January 2012

AbstractNumerical simulations and experimental validation were performed to understand the effects of hydrodynamics on pellet formation and cellulase production by filamentous T. reesei. The constructed model combined a steady‐state multiple reference frame (MRF) approach describing mechanical mixing, oxygen mass transfer, and non‐Newtonian flow field with a transient sliding mesh approach and kinetics of oxygen consumption, pellet formation, and enzyme production. The model was experimentally validated at various agitation speeds in a two‐impeller Rushton turbine fermentor. Results from simulation and experimentation showed that higher agitation speeds led to increases in the pellet diameter and the proportion of pelletized (vs. filamentous) forms of the biomass. It also led to increase in dissolved oxygen mass transfer rate in shear‐thinning fluid and cellulase productivity. The extent of these increases varied considerably among agitation speeds. Pellet formation and morphology were presumably affected within a viscosity‐dependent shear‐rate range. Cellulase activity and cell viability were shown to be sensitive to impeller shear. A maximum cellulase activity of 3.5 IU/mL was obtained at 400 rpm, representing a twofold increase over that at 100 rpm. Biotechnol. Bioeng. 2012; 109:1755–1768. © 2012 Wiley Periodicals, Inc.