bluuebunny/crossref_metadata_2025 huggingface dataset:
Identification of the Clinical Features Distinguishing Psoriatic Arthritis and Fibromyalgia
Authors: MARCHESONI ANTONIO , ATZENI FABIOLA , SPADARO ANTONIO , LUBRANO ENNIO , PROVENZANO GIUSEPPE , CAULI ALBERTO , OLIVIERI IGNAZIO , MELCHIORRE DANIELA , SALVARANI CARLO , SCARPA RAFFAELE , SARZI-PUTTINI PIERCARLO , MONTEPAONE MONICA , PORRU GIOVANNI , D’ANGELO SALVATORE , CATANOSO MARIAGRAZIA , COSTA LUISA , MANARA MARIA , VARISCO VALENTINA , ROTUNNO LAURA , DE LUCIA ORAZIO , DE MARCO GABRIELE
Published: January 2012

Objective.

To identify the clinical features that can help to distinguish between psoriatic arthritis (PsA) and fibromyalgia (FM).

Methods.

Our cross-sectional study was carried out in 10 Italian rheumatology centers between January and September 2009, and enrolled all consecutive patients with PsA and FM who agreed to participate. Standard clinical and laboratory data for PsA and FM were collected from all patients. Records were made of somatic symptoms, response to nonsteroidal antiinflammatory drugs (NSAID), self-evaluated pain, general health, disability, and responses to the Fibromyalgia Impact Questionnaire. Data were statistically analyzed by univariate and multivariate analyses, and receiver-operating characteristic curves. The analysis concentrated on the clinical features shared by the 2 conditions.

Results.

Two hundred sixty-six patients with PsA (mean age 51.7 yrs; disease duration 10.2 yrs) and 120 patients with FM (mean age 50.2 yrs; disease duration 5.6 yrs) were evaluated. Univariate analysis showed that patients with FM had higher mean tender point and enthesitis scores, more somatic symptoms, and responded less to NSAID. Multivariate analysis showed that the presence of ≥ 6 FM-associated symptoms and ≥ 8 tender points was the best predictor of FM.

Conclusion.

The shared clinical features of PsA and FM that had the greatest discriminating power for FM were the number of FM-associated symptoms and tender point count.
Utility of Interferon-α as a Biomarker in Central Neuropsychiatric Involvement in Systemic Lupus Erythematosus
Authors: FRAGOSO-LOYO HILDA , ATISHA-FREGOSO YEMIL , NÚÑEZ-ALVAREZ CARLOS A. , LLORENTE LUIS , SÁNCHEZ-GUERRERO JORGE
Published: January 2012

Objective.

To assess the utility of interferon-α (IFN-α) in serum and cerebrospinal fluid (CSF) as a biomarker of disease activity in central neuropsychiatric systemic lupus erythematosus (cNPSLE).

Methods.

Serum and CSF samples were drawn at hospitalization in 34 patients with cNPSLE, 16 surgical SLE, 4 primary neuropsychiatric conditions, and 25 with nonautoimmune conditions, except in 44 non-NPSLE patients in whom only serum was studied. Six months later, serum/CSF and serum samples were taken in 20 cNPSLE and 35 non-NPSLE patients, respectively. SLE activity was assessed at hospitalization, and 6 months later in cNPSLE and non-NPSLE patients. IFN-α was detected by Luminex technology.

Results.

The mean ± SD age of patients with cNPSLE was 31.4 ± 12.2 years, which was similar across the study groups (p = 0.46). Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) scores among cNPSLE, non-NPSLE, and SLE-surgical patients were 15.3 ± 8.2, 12.4 ± 8.2, and 3.8 ± 1.5, respectively. IFN-α levels in serum were higher in cNPSLE than in nonautoimmune patients (p = 0.02), but were similar to non-NPSLE and SLE-surgical groups. In CSF samples, IFN-α levels were higher in cNPSLE than in nonautoimmune patients (p = 0.03), and were nonsignificantly higher than in SLE-surgical and primary neuropsychiatric patients. Six months later, serum levels of IFN-α did not vary from baseline values despite a significant decrease in SLEDAI-2K score in cNPSLE and non-NPSLE patients. IFN-α levels in the CSF of patients with cNPSLE also remained stable. Among specific cNPSLE syndromes, CSF IFN-α levels were significantly higher among patients with acute confusional syndrome.

Conclusion.

IFN-α does not seem to represent a useful biomarker of cNPSLE syndromes; its utility in specific cNPSLE manifestations merits further investigation.
Safety and Efficacy of Various Dosages of Ocrelizumab in Japanese Patients with Rheumatoid Arthritis with an Inadequate Response to Methotrexate Therapy: A Placebo-controlled Double-blind Parallel-group Study
Authors: HARIGAI MASAYOSHI , TANAKA YOSHIYA , MAISAWA SHINGO ,   the JA21963 Study Group
Published: January 2012

Objective.

To evaluate the safety and efficacy of ocrelizumab (OCR) in Japanese patients with rheumatoid arthritis (RA) with an inadequate response to methotrexate (MTX).

Methods.

RA patients with an inadequate response to MTX 6–8 mg/week received an infusion of 50, 200, or 500 mg OCR or placebo on Days 1 and 15 and were observed for 24 weeks. The double-blind period was prematurely terminated because of a possible risk for serious infection from OCR.

Results.

A total of 152 patients were randomized into the study. The incidence of infection was 37.7% (43/114) in the OCR groups combined, compared to 18.9% (7/37) in the placebo group. Serious infections occurred in 7 patients in the OCR groups combined; there were no serious infections in the placebo group. Among the serious infections, Pneumocystis jirovecii pneumonia occurred in 2 patients in the OCR 200 mg group. The American College of Rheumatology 20% response rates at Week 24 (the primary endpoint) of the OCR 50, 200, and 500 mg groups were 54.1% (p = 0.0080), 55.6% (p = 0.0056), and 47.2% (p = 0.044), respectively, all significantly higher than that of the placebo group (25.0%).

Conclusion.

These results suggest inappropriate benefit-risk balance of OCR in this patient population. Because rituximab is not approved for treatment of RA in Japan, it will be necessary to investigate safety and efficacy of other anti-B cell therapies in Japanese patients with RA. (ClinicalTrials.govNCT00779220).
Orthopedic Surgery Among Patients with Rheumatoid Arthritis 1980–2007: A Population-based Study Focused on Surgery Rates, Sex, and Mortality
Authors: SHOURT COURTNEY A. , CROWSON CYNTHIA S. , GABRIEL SHERINE E. , MATTESON ERIC L.
Published: January 2012

Objective.

To describe current trends in arthritis-related joint surgery among a population-based cohort of patients with rheumatoid arthritis (RA) and to examine the influence of joint surgery on mortality.

Methods.

A retrospective medical record review was performed of all orthopedic surgeries following diagnosis in cases of adult-onset RA in Olmsted County, Minnesota, USA, in 1980–2007. Surgeries included primary total joint arthroplasty, joint reconstructive procedures (JRP), soft tissue procedures (STP), and revision arthroplasty. Cumulative incidence of surgery was estimated using Kaplan-Meier methods. Time trends, sex differences, and mortality were examined using Cox models with time-dependent covariates for surgery.

Results.

A total of 189 of 813 patients underwent at least 1 surgical procedure involving joints during followup. The cumulative incidence of any joint surgery at 10 years after RA incidence for the 1980–94 cohort was 27.3% compared to 19.5% for the 1995–2007 cohort (p = 0.08). The greatest reduction was in STP, which decreased from 12.1% in 1980–94 to 6.0% in 1995–2007 at 10 years after RA incidence (p = 0.012). Women had more surgery (cumulative incidence 26.6% at 10 years for women; 20.4% for men; p = 0.049), as did obese patients. JRP were significantly associated with mortality (hazard ratio 2.6; 95% CI 1.8, 3.9; p < 0.001) compared to patients not requiring JRP.

Conclusion.

The rates of joint surgery continue to decrease for patients more recently diagnosed with RA. JRP is associated with increased mortality. These findings may reflect improved treatments for RA as well as continued higher disease burden among some patients.
Leadership Characteristics of the Ideal School Superintendent
Authors: Brewer Ernest W.
Published: January 2012

This chapter discusses the characteristics of the ideal school superintendent based on research findings. Research has seen that the challenges to American education have become more complex with the advent of each decade of this century. The effective school superintendent of today and tomorrow must be a principled, empathetic visionary who is able to lead by facilitating and to actively encourage the development of others. While inferences may be made from the efforts of apparently successful superintendents, research is needed to scientifically validate excellence and to differentiate between superficially apparent success and long-term effectiveness.
Organizational Learning and Technology
Authors: Wang Jia
Published: January 2012

The purpose of this chapter is to explore the role of technology in organizational learning. Recognizing that the presence of technology may not always bring about desirable change, this chapter focuses on identifying promising aspects of technologies and their potential to enhance the organization’s learning capacity. Three interrelated constructs—technology, organizational learning, and knowledge management—are examined. This review pointed to several challenges related to technology integration in the organizational learning processes. A variety of technology-based learning platforms are suggested. Virtual learning, virtual dialoguing, virtual communities of practice, and technology-enabled knowledge management systems are recommended as appropriate technology applications for facilitating learning within organizations. Gaining an understanding about how technology can be leveraged to promote learning is key to improving organizational practices.
Looking In, Looking Out
Authors: Novak Daniel , Wang Minjuan , Callaghan Victor
Published: January 2012

This chapter explores the format of Augmented Reality (AR) and its use in mobile learning. It first addresses precedents and theories of mLearning that inform the discussion of AR and Virtual Reality (VR), explores the “virtuality continuum” and the concept of mixed reality, and discusses some of the technologies in the mobile-AR ecosystem. It then describes the potential uses of AR in mobile education. At the end, the authors present potential applications of mobile-AR to curation activities and provide ideas for future areas of exploration in AR-based mLearning.
Supporting Learners' Interaction by Means of Narrative Activities
Authors: Dettori Giuliana
Published: January 2012

It is widely recognized that learners are empowered by interacting with peers on relevant, content-related matters, and are encouraged to feel involved in their own educational process. In order to really support learning, however, interactions need to be structured and organized by means of some suitable pedagogical approach. In this chapter, the author argues that narratives (in the form of both fictional stories and narrations of experiences related to the object of study) can provide a pedagogical framework suitable to exploit the educational potential of interactions. The narrative is an expressive form which is natural and familiar to both children and adults and validly supports meaning-making as well as personal engagement. Moreover, it is an inherently social activity, which makes it particularly suitable to support collaborative activities. This chapter analyzes several examples of narrative activities carried out in different collaborative contexts in order to exemplify how they can be organized to efficaciously support learner interaction.
Postmodernism, Interpretivism, and Formal Ontologies
Authors: Kroeze Jan H.
Published: January 2012

This chapter investigates the relationship between postmodernism, interpretivism, and formal ontologies, which are widely used in Information Systems (IS). Interpretivism has many postmodernist traits. It acknowledges that the world is diverse and that knowledge is contextual, ever-changing, and emergent. The acceptance of the idea of more than one reality and multiple understandings is part and parcel of postmodernism. Interpretivism is, therefore, characterized as a postmodern research philosophy. To demonstrate this philosophical premise more concretely, the creation of the logical structure of formal ontologies is sketched as an example of typical interpretivist and postmodernist activity in IS.
Variance-Based Structural Equation Modeling
Authors: Roldán José L. , Sánchez-Franco Manuel J.
Published: January 2012

Partial Least Squares (PLS) is an efficient statistical technique that is highly suited for Information Systems research. In this chapter, the authors propose both the theory underlying PLS and a discussion of the key differences between covariance-based SEM and variance-based SEM, i.e., PLS. In particular, authors: (a) provide an analysis of the origin, development, and features of PLS, and (b) discuss analysis problems as diverse as the nature of epistemic relationships and sample size requirements. In this regard, the authors present basic guidelines for the applying of PLS as well as an explanation of the different steps implied for the assessment of the measurement model and the structural model. Finally, the authors present two examples of Information Systems models in which they have put previous recommendations into effect.
Models for Interpretive Information Systems Research, Part 2
Authors: De Villiers M. R. (Ruth)
Published: January 2012

This chapter introduces interpretive research as a background to research that is time-and context-dependent. The study presents practical, yet theoretical research approaches that are relevant to postgraduate studies and to ad-hoc research. The models proposed as interpretive research designs are development research, design-science research, and design-based research. Systems development, in and of itself, is not research, but when integrated with evaluation and applied both to solve real-world problems and to propose general design principles, it gives rise to development research. Design research – termed design-science research in the domain of information systems (where it has roots in software engineering) and design-based research in educational technology (where the approaches are more pragmatic) – has clearly defined features and methods in each domain respectively. The common attributes are the generation of creative and innovative artifacts to serve in complex situations, and the joint advancement of theory and practice. The three research designs are described, and each is illustrated by an example of a study where the model was applied
Visualization and Analysis of Frames in Collections of Messages
Authors: Vlieger Esther , Leydesdorff Loet
Published: January 2012

A step-by-step introduction is provided on how to generate a semantic map from a collection of messages (full texts, paragraphs, or statements) using freely available software and/or SPSS for the relevant statistics and the visualization. The techniques are discussed in the various theoretical contexts of (i) linguistics (e.g., Latent Semantic Analysis), (ii) sociocybernetics and social systems theory (e.g., the communication of meaning), and (iii) communication studies (e.g., framing and agenda-setting). The authors distinguish between the communication of information in the network space (social network analysis) and the communication of meaning in the vector space. The vector space can be considered a generated as an architecture by the network of relations in the network space; words are then not only related, but also positioned. These positions are expected rather than observed, and therefore one can communicate meaning. Knowledge can be generated when these meanings can recursively be communicated and therefore also further codified.
Synergism between Curdlan and GM-CSF Confers a Strong Inflammatory Signature to Dendritic Cells
Authors: Min Lin , Mohammad Isa Siti Aminah Bte , Fam Wee Nih , Sze Siu Kwan , Beretta Ottavio , Mortellaro Alessandra , Ruedl Christiane
Published: January 2012

A simultaneous engagement of different pathogen recognition receptors provides a tailor-made adaptive immunity for an efficient defense against distinct pathogens. For example, cross-talk of TLR and C-type lectin signaling effectively shapes distinct gene expression patterns by integrating the signals at the level of NF-κB. In this study, we extend this principle to a strong synergism between the dectin-1 agonist curdlan and an inflammatory growth factor, GM-CSF. Both together act in synergy in inducing a strong inflammatory signature that converts immature dendritic cells (DCs) to potent effector DCs. A variety of cytokines (IL-1β, IL-6, TNF-α, IL-2, and IL-12p70), costimulatory molecules (CD80, CD86, CD40, and CD70), chemokines (CXCL1, CXCL2, CXCL3, CCL12, CCL17), as well as receptors and molecules involved in fugal recognition and immunity such as Mincle, dectin-1, dectin-2, and pentraxin 3 are strongly upregulated in DC treated simultaneously with curdlan and GM-CSF. The synergistic effect of both stimuli resulted in strong IκBα phosphorylation, its rapid degradation, and enhanced nuclear translocation of all NF-κB subunits. We further identified MAPK ERK as one possible integration site of both signals, because its phosphorylation was clearly augmented when curdlan was coapplied with GM-CSF. Our data demonstrate that the immunomodulatory activity of curdlan requires an additional signal provided by GM-CSF to successfully initiate a robust β-glucan–specific cytokine and chemokine response. The integration of both signals clearly prime and tailor a more effective innate and adaptive response against invading microbes and fungi.
Experience of Participation as Described by People with Hand Deformity Caused by Rheumatic Disease
Authors: Nicklasson Marit , Jonsson Hans
Published: January 2012

Objective:

Participation as a concept has come into focus as an important aspect of wellbeing and derives from the International Classification of Functioning, Disability and Health. This qualitative study aimed to increase understanding of how hand deformities caused by rheumatic disease influence the individual's potential to continue participating in society by taking into account other people's attitudes.

Method:

Interviews were carried out with 11 participants with hand deformity associated with a rheumatic disease. Analyses were conducted using comparative methodology and hermeneutic interpretation.

Findings:

Participation was described as an experience that arises during involvement in an activity or a social context. All the participants experienced restricted participation across a variety of situations. Hand deformity, combined with physical environment, personal attributes and the attitudes of others, was an obstacle to the achievement of full participation. It also became obvious that the participants were not able to consider only the impact of hand deformity without acknowledging other consequences of their rheumatic condition.

Conclusion:

Personal and contextual factors intertwine and influence the lived experience of participation and the ability to participate. A perspective in rehabilitation that addresses only functions or performance might hinder taking the experience of participation into consideration.
The 13 August 2010 catastrophic debris flows after the 2008 Wenchuan earthquake, China
Authors: Xu Q. , Zhang S. , Li W. L. , van Asch Th. W. J.
Published: January 2012

Abstract. From 12 to 14 August 2010, heavy rainstorms occurred in the Sichuan province in SW China in areas which were affected by the 2008 Wenchuan Earthquake, inducing catastrophic debris flows. This disaster is named as "the 8.13 debris flows". The results of the research presented in this paper show that the 8.13 debris flows are characterized by a simultaneous occurrence, rapid-onsets, destructive impacts, and disaster chain effects. They are located along the seismic fault, because the source materials mainly originate from loose deposits of landslides which were triggered by the Wenchuan Earthquake. The presence of large amounts of these loose materials on the slopes and the development of high intensity rainfall events are the main causes for the formation of these debris flows. The study of the 8.13 debris flows can provide a benchmark for the analysis of the long-term evolution of these debris flows in order to make proper engineering decisions. A flexible drainage system is proposed in this paper as a preventive measure to mitigate the increasing activity of these debris flows in the earthquake-affected area.
Equivalence between Hypergraph Convexities
Authors: Malvestuto Francesco M. , Mezzini Mauro , Moscarini Marina
Published: January 2012

Let G be a connected graph on V. A subset X of V is all-paths convex (or
ap
-convex) if X contains each vertex on every path joining two vertices in X and is monophonically convex (or m-convex) if X contains each vertex on every chordless path joining two vertices in X. First of all, we prove that
ap
-convexity and m-convexity coincide in G if and only if G is a tree. Next, in order to generalize this result to a connected hypergraph H, in addition to the hypergraph versions of
ap
-convexity and m-convexity, we consider canonical convexity (or c-convexity) and simple-path convexity (or
sp
-convexity) for which it is well known that m-convexity is finer than both c-convexity and
sp
-convexity and
sp
-convexity is finer than
ap
-convexity. After proving
sp
-convexity is coarser than c-convexity, we characterize the hypergraphs in which each pair of the four convexities above is equivalent. As a result, we obtain a convexity-theoretic characterization of Berge-acyclic hypergraphs and of γ-acyclic hypergraphs.
Feasibility Study for Production of Biofuel and Chemicals from Marine Microalgae Nannochloropsis sp. Based on Basic Mass and Energy Analysis
Authors: Porphy Simon Jegan , Farid Mohammed M.
Published: January 2012

Algae are believed to be a good source of renewable energy because of their rapid growth rate and their ability to be cultivated in waste waters or waste land. The algae
Nannochloropsis sp. was chosen for this study, where lipids were extracted and transesterified for biodiesel production. The FFA (free fatty acid) content in the lipid was estimated to be 27 wt% of the total fatty acids. The remaining biomass after lipid extraction was pyrolyzed at 200°C, 300°C, and 400°C to produce solid, liquid, and gas products. The GC/MS showed that the lipids of
Nannochloropsis sp. consist of high concentration of polyunsaturated fatty acids (29 wt%), eicosapentaenoic acid. The bio-oil produced from pyrolysis of algae biomass (after lipid extraction) at 300°C was composed of 50 wt% acetone, 30 wt% methyl ethyl ketone and 19 wt% aromatics such as pyrazine and pyrrole. The heating value of bio-oil is 32 MJ/kg of oil.
Focus Issue: Neck Dissection for Oropharyngeal Squamous Cell Carcinoma
Authors: Van Abel Kathryn M. , Moore Eric J.
Published: January 2012

The staging and prognosis of oropharyngeal squamous cell carcinoma is intimately tied to the status of the cervical lymph nodes. Due to the high risk for occult nodal disease, most clinicians recommend treating the neck for these primary tumors. While there are many modalities available, surgical resection of nodal disease offers both a therapeutic and a diagnostic intervention. We review the relevant anatomy, nodal drainage patterns, clinical workup, surgical management and common complications associated with neck dissection for oropharyngeal squamous cell carcinoma.
An Analytical Study of Weakly Nonlinear Dynamics of a Walters’ Liquid B around a Flexible Sheet Undergoing Super Linear Stretching
Authors: Siddheshwar P. G. , Chan A. , Mahabaleswar U. S.
Published: January 2012

The paper discusses the boundary layer flow of Walters’ liquid B over a stretching sheet. The stretching is assumed to be a quadratic function of the coordinate along the direction of stretching. The study encompasses within its realm both Walters’ liquid B and second order liquid. The velocity distribution is obtained by solving the nonlinear governing differential equation. Analytical expressions are obtained for stream function and velocity components as functions of the viscoelastic and stretching related parameters. It is shown that the viscoelasticity goes hand in hand with quadratic stretching in enhancing the lifting of the liquid as we go along the sheet.
Numerical Study of the Elastic Pendulum on the Rotating Earth
Authors: Stanovnik Aleš , Jurcic-Zlobec Borut
Published: January 2012

The elastic pendulum is a simple physical system represented by nonlinear differential equations. Analytical solutions for the bob trajectories on the rotating earth may be obtained in two limiting cases: for the ideally elastic pendulum with zero unstressed string length and for the Foucault pendulum with an inextensible string. The precession period of the oscillation plane, as seen by the local observer on the rotating earth, is 24 hours in the first case and has a well-known latitude dependence in the second case. In the present work, we have obtained numerical solutions of the nonlinear equations for different string elasticities in order to study the transition from one precession period to the other. It is found that the transition is abrupt and that it occurs for a quite small perturbation of the ideally elastic pendulum, that is, for the unstressed string length equal to about 10−4 of the equilibrium length due to the
weight of the bob.
Multivariate analysis of anxiety disorders yields further evidence of linkage to chromosomes 4q21 and 7p in panic disorder families
Authors: Logue Mark W. , Bauver Sarah R. , Knowles James A. , Gameroff Marc J. , Weissman Myrna M. , Crowe Raymond R. , Fyer Abby J. , Hamilton Steven P.
Published: January 2012

Replication has been difficult to achieve in linkage studies of psychiatric disease. Linkage studies of panic disorder have indicated regions of interest on chromosomes 1q, 2p, 2q, 3, 7, 9, 11, 12q13, 12q23, and 15. Few regions have been implicated in more than one study. We examine two samples, the Iowa (IA) and the Columba panic disorder families. We use the fuzzy‐clustering method presented by Kaabi et al. [Kaabi et al. (2006); Am J Hum Genet 78: 543–553] to summarize liability to panic disorder, agoraphobia, simple phobia, and social phobia. Kaabi et al. applied this method to the Yale panic disorder linkage families and found evidence of linkage to chromosomes 4q21, 4q32, 7p, and 8. When we apply the same method to the IA families, we obtain overlapping evidence of linkage to chromosomes 4q21 and 7p. Additionally, we find evidence of linkage on chromosomes 1, 5, 6, 16, and 22. The Columbia (CO) data does not indicate linkage to any of the Kaabi et al. peaks, instead implicating chromosomes 2 and 22q11 (2 Mb from COMT). There is some evidence of overlapping linkage between the IA and CO datasets on chromosomes 1 and 14. While use of fuzzy clustering has not produced complete concordance across datasets, it has produced more than previously seen in analyses of panic disorder proper. We conclude that chromosomes 4q21 and 7p should be considered strong candidate regions for panic and fear‐associated anxiety disorder loci. More generally, this suggests that analyses including multiple aspects of psychopathology may lead to greater consistency across datasets. © 2012 Wiley Periodicals, Inc.
Newborn screening for Pompe disease: An update, 2011
Authors: Burton Barbara K.
Published: January 2012

There is mounting evidence in support of universal newborn screening for Pompe disease. Early treatment of children with infantile Pompe disease, prior to clinical diagnosis, is clearly of benefit in prolonging survival and improving cardiac and motor function. Several testing methods applicable to newborn screening using dried blood spots have been described and several are currently being tested in pilot screening programs. Although challenges remain, particularly in identification of the best strategy for follow‐up and management of later onset Pompe disease, these challenges can surely be overcome as they have been with other disorders added to the newborn screening panel. It is anticipated that the results of the several pilot programs currently ongoing or in the planning stages in the United States will provide the data necessary to recommend universal newborn screening for Pompe disease for all infants. © 2012 Wiley Periodicals, Inc.
The genotype–phenotype correlation in Pompe disease
Authors: Kroos Marian , Hoogeveen‐Westerveld Marianne , van der Ploeg Ans , Reuser Arnold J.J.
Published: January 2012

Pompe 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

Defining 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

Pompe 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

Background:

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

Background:

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

Background:

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

The 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

A 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

In 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

Polyanhydrides 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

Four 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

In 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