bluuebunny/crossref_metadata_2025_split huggingface dataset:
PedsQL™ multidimensional fatigue scale in sickle cell disease: Feasibility, reliability, and validity
Authors: Panepinto Julie A. , Torres Sylvia , Bendo Cristiane B. , McCavit Timothy L. , Dinu Bogdan , Sherman‐Bien Sandra , Bemrich‐Stolz Christy , Varni James W. 
Published: September 2013

AbstractBackgroundSickle cell disease (SCD) is an inherited blood disorder characterized by a chronic hemolytic anemia that can contribute to fatigue and global cognitive impairment in patients. The study objective was to report on the feasibility, reliability, and validity of the PedsQL™ Multidimensional Fatigue Scale in SCD for pediatric patient self‐report ages 5–18 years and parent proxy‐report for ages 2–18 years.ProcedureThis was a cross‐sectional multi‐site study whereby 240 pediatric patients with SCD and 303 parents completed the 18‐item PedsQL™ Multidimensional Fatigue Scale. Participants also completed the PedsQL™ 4.0 Generic Core Scales.ResultsThe PedsQL™ Multidimensional Fatigue Scale evidenced excellent feasibility, excellent reliability for the Total Scale Scores (patient self‐report α = 0.90; parent proxy‐report α = 0.95), and acceptable reliability for the three individual scales (patient self‐report α = 0.77–0.84; parent proxy‐report α = 0.90–0.97). Intercorrelations of the PedsQL™ Multidimensional Fatigue Scale with the PedsQL™ Generic Core Scales were predominantly in the large (≥0.50) range, supporting construct validity. PedsQL™ Multidimensional Fatigue Scale Scores were significantly worse with large effects sizes (≥0.80) for patients with SCD than for a comparison sample of healthy children, supporting known‐groups discriminant validity. Confirmatory factor analysis demonstrated an acceptable to excellent model fit in SCD.ConclusionsThe PedsQL™ Multidimensional Fatigue Scale demonstrated acceptable to excellent measurement properties in SCD. The results demonstrate the relative severity of fatigue symptoms in pediatric patients with SCD, indicating the potential clinical utility of multidimensional assessment of fatigue in patients with SCD in clinical research and practice. Pediatr Blood Cancer 2014;61:171–177. © 2013 Wiley Periodicals, Inc.
Neuroblastoma in older children, adolescents and young adults: A report from the International Neuroblastoma Risk Group project
Authors: Mossé Yaël P. , Deyell Rebecca J. , Berthold Frank , Nagakawara Akira , Ambros Peter F. , Monclair Tom , Cohn Susan L. , Pearson Andrew D. , London Wendy B. , Matthay Katherine K. 
Published: September 2013

AbstractBackgroundNeuroblastoma in older children and adolescents has a distinctive, indolent phenotype, but little is known about the clinical and biological characteristics that distinguish this rare subgroup. Our goal was to determine if an optimal age cut‐off exists that defines indolent disease and if accepted prognostic factors and treatment approaches are applicable to older children.ProcedureUsing data from the International Neuroblastoma Risk Group, among patients ≥18 months old (n = 4,027), monthly age cut‐offs were tested to determine the effect of age on survival. The prognostic effect of baseline characteristics and autologous hematopoietic cell transplant (AHCT) for advanced disease was assessed within two age cohorts; ≥5 to <10 years (n = 730) and ≥10 years (n = 200).ResultsOlder age was prognostic of poor survival, with outcome gradually worsening with increasing age at diagnosis, without statistical evidence for an optimal age cut‐off beyond 18 months. Among patients ≥5 years, factors significantly prognostic of lower event‐free survival (EFS) and overall survival (OS) in multivariable analyses were INSS stage 4, MYCN amplification and unfavorable INPC histology classification. Among stage 4 patients, AHCT provided a significant EFS and OS benefit. Following relapse, patients in both older cohorts had prolonged OS compared to those ≥18 months to <5 years (P < 0.0001).ConclusionsDespite indolent disease and infrequent MYCN amplification, older children with advanced disease have poor survival, without evidence for a specific age cut‐off. Our data suggest that AHCT may provide a survival benefit in older children with advanced disease. Novel therapeutic approaches are required to more effectively treat these patients. Pediatr Blood Cancer 2014;61:627–635. © 2013 Wiley Periodicals, Inc.
Neonatal hemochromatosis: management, outcome, and prevention
Authors: Lopriore Enrico , Mearin M. Luisa , Oepkes Dick , Devlieger Roland , Whitington Peter F. 
Published: September 2013

ABSTRACTNeonatal hemochromatosis (NH) is a rare disorder but the most common cause of acute liver failure in neonates. NH is characterized by severe hepatic injury and iron overload and is associated with high perinatal mortality and morbidity rates. NH is often preceded by oligohydramnios and intrauterine growth restriction, suggesting an important impact of NH during fetal life. Stillbirth and prematurity are not uncommon. During the last decade, major discoveries on the etiology of NH have radically changed the management and outcome of this disease. NH is now regarded as an alloimmune disease and is, as such, often referred to as gestational alloimmune liver disease. Antenatal treatment with intravenous immunoglobulins starting at 14 weeks' gestation has been shown to prevent the development of NH in subsequent pregnancies. Postnatal treatment, previously based on the use of anti‐oxidants and chelation therapy, has now successfully been replaced by exchange transfusions and intravenous immunoglobulins substitution. This review summarizes the latest discoveries on the etiology of NH and the new recommendations concerning its management and prevention. © 2013 John Wiley & Sons, Ltd.
Structure Evolution upon Uniaxial Drawing Skin‐ and Core‐Layers of Injection‐Molded Isotactic Polypropylene by In Situ Synchrotron X‐ray Scattering
Authors: Chen Yanhui , Zhong Ganji , Hsiao Benjamin S. , Li Zhongming 
Published: September 2013

ABSTRACTThe structure evolution of the oriented layer (skin) and unoriented layer (core) from injection‐molded isotactic polypropylene samples upon uniaxial drawing is probed by in situ synchrotron X‐ray scattering. The X‐ray data analysis approach, called “halo method”, is used to semiquantitatively identify the transformation process of crystal phase upon uniaxial drawing. The results verify the validation of the stress‐induced crystal fragmentation and recrystallization process in the deformation of the injection‐molded samples under different temperatures. Furthermore, the end of strain softening region in the engineering stress‐strain curves explicitly corresponds to the transition point from the stress‐induced crystal fragmentation to recrystallization process. Basically, the skin and core layers of the injection‐molded parts share the similar deformation mechanism as aforementioned. The stretching temperature which dramatically affects the relative strength between the entanglement‐induced tie chains and the adjacent crystalline lamellae determines the crystal structural evolution upon drawing. © 2013 Wiley Periodicals, Inc. J. Polym. Sci., Part B: Polym. Phys. 2013, 51, 1618–1631
Novel Crosslinked Alkaline Exchange Membranes Based on Poly(phthalazinone ether ketone) for Anion Exchange Membrane Fuel Cell Applications
Authors: Liu Zhi , Zhu Xiuling , Wang Guangfu , Hou Xixin , Liu Dezhi 
Published: September 2013

ABSTRACTNovel crosslinked anion exchange membranes based on poly(phthalazinone ether ketone) (PPEK) were successfully prepared through chloromethylation, quaternization, membrane casting and OH‐ ionic exchange reaction from the quaternized PPEK (QPPEK) membrane. The quaternization was performed with N‐methylimidazolium (MIm) as ammonium agent and tetramethylethylenediamine (TMEDA) as crosslinking agent. The ion‐exchange capacity, swelling ratio (SR), water uptake (WU), and ionic conductivity of the QPPEK alkaline membranes have been systematically investigated. The results showed that QPPEK membranes have a high hydroxide conductivity and very low SR. For the QPPEK‐4 alkaline membrane with ion‐exchange capacity (IEC) 2.63 mmol/g, the WU was 35.8%, and the hydroxide conductivity was 0.028 S/cm at 30 °C and 0.032 S/cm at 70 °C, while its SR was only 7.6%. The thermal properties of the QPPEK alkaline membrane and CMPPEK were characterized using thermo‐gravimetric analysis measurements in a nitrogen atmosphere. The alkaline resistance of membrane QPPEK −4 was also briefly investigated in 6 M KOH at 60 °C. © 2013 Wiley Periodicals, Inc. J. Polym. Sci., Part B: Polym. Phys. 2013, 51, 1632–1638
Impact of molecular tilt angle on the absorption spectra of pentacene:perfluoropentacene blends
Authors: Broch K. , Bürker C. , Dieterle J. , Krause S. , Gerlach A. , Schreiber F. 
Published: September 2013

AbstractWe investigate the relation between the optical properties and the average molecular tilt angle for blends of pentacene and perfluoropentacene, which can be considered as a prototypical donor–acceptor complex. Combining near‐edge X‐ray absorption fine‐structure spectroscopy and optical spectroscopy we study thin films of these compounds prepared at three different substrate temperatures Tsub. For Tsub =180 K we observe a larger average tilt angle than for blends prepared at higher substrate temperatures. This orientational change has significant impact on the uniaxial anisotropic optical properties of the mixed films which we measure post growth as well as in real‐time during growth. (© 2013 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Phase Chemistry in the Ca‐Mn‐Sb‐O System at 1160–1250 °C
Authors: Bazuev Gennady V. , Tyutyunnik Aleksander P. , Golovkin Boris G. 
Published: September 2013

AbstractPhase equilibrium in the Ca‐Mn‐Sb‐O system was studied in air at the temperature range from 1160 to 1250 °C and a pseudo‐quaternary phase diagram for the system CaO‐MnO‐Mn2O3‐Sb2O5 is presented. The following compounds were discovered: new antimonate Ca7Sb2O12 with a perovskite‐like structure, solid solutions Mn2–xCaxSb2O7 (0 ≤ x ≤ 1.6) with a 3T‐weberite structure, and Ca2–xMnxSb2O7 (0 ≤ x ≤ 0.23) with a 2O‐weberite structure, as well as solid solutions Ca2Mn1+xSb1–xO6 with monoclinic (0 ≤ x ≤ 0.67) and orthorhombic (0.75 ≤ x ≤ 1) perovskite structures. The existence of a number of double and ternary oxides and solid solutions on the basis of Sb5+ and Mn2+, Mn3+, Mn4+ and with mixed manganese valence is confirmed.
Classical tau-function for quantum spin chains
Authors: Alexandrov Alexander , Kazakov Vladimir , Leurent Sebastien , Tsuboi Zengo , Zabrodin Anton 
Published: September 2013

AbstractFor an arbitrary generalized quantum integrable spin chain we introduce a “masterT-operator” which represents a generating function for commuting quantum transfer matrices constructed by means of the fusion procedure in the auxiliary space. We show that the functional relations for the transfer matrices are equivalent to an infinite set of model-independent bilinear equations of the Hirota form for the masterT-operator, which allows one to identify it withτ-function of an integrable hierarchy of classical soliton equations. In this paper we consider spin chains with rationalGL(N)-invariantR-matrices but the result is independent of a particular functional form of the transfer matrices and directly applies to quantum integrable models with more general (trigonometric and elliptic)R-matrices and to supersymmetric spin chains.
Halostable cellulase with organic solvent tolerance from Haloarcula sp. LLSG7 and its application in bioethanol fermentation using agricultural wastes
Authors: Li Xin , Yu Hui-Ying 
Published: September 2013

Abstract
A haloarchaeal strain LLSG7 with cellulolytic activity was isolated from the saline soil of Yuncheng Salt Lake, China. Biochemical and physiological characterization along with 16S rRNA gene sequence analysis placed the isolate in the genus Haloarcula. Cellulase production was strongly influenced by the salinity of the culture medium with the maximum obtained in the presence of 25 % NaCl. Substrate specificity tests showed that the crude cellulase was a multicomponent enzyme system, and zymogram analysis revealed that five different endoglucanases were secreted by strain LLSG7. Optimal cellulase activity was at 50 °C, pH 8.0, and 20 % NaCl. In addition, it was highly active and stable over broad ranges of temperature (40–80 °C), pH (7.0–11.0), and NaCl concentration (17.5–30 %). The cellulase displayed remarkable stability in the presence of non-polar organic solvents with log P ow ≥ 1.97. The crude cellulase secreted by strain LLSG7 was further applied to hydrolyze alkali-pretreated rice straw and the enzymatic hydrolysate was used as the substrate for bioethanol fermentation by Saccharomyces cerevisiae. The yield of ethanol was 0.177 g per gram of pretreated rice straw, suggesting that it might be potentially useful for bioethanol production.
Tall tales and fat tails: the science and economics of extreme warming
Authors: Calel Raphael , Stainforth David A. , Dietz Simon 
Published: September 2013

AbstractIt has recently been highlighted that the economic value of climate change mitigation depends sensitively on the slim possibility of extreme warming. This insight has been obtained through a focus on the fat upper tail of the climate sensitivity probability distribution. However, while climate sensitivity is undoubtedly important, what ultimately matters is transient temperature change. A focus on transient temperature change stresses the interplay of climate sensitivity with other physical uncertainties, notably effective heat capacity. In this paper we present a conceptual analysis of the physical uncertainties in economic models of climate mitigation, leading to an empirical application of the DICE model, which investigates the interaction of uncertainty in climate sensitivity and the effective heat capacity. We expand on previous results exploring the sensitivity of economic evaluations to the tail of the climate sensitivity distribution alone, and demonstrate that uncertainty about the system’s effective heat capacity also plays a very important role. We go on to discuss complementary avenues of economic and scientific research that may help provide a better combined understanding of the physical and economic processes associated with a rapidly warming world.
A Qualitative Study of Healthcare Providers’ Perspectives on the Implications of Genome‐Wide Testing in Pediatric Clinical Practice
Authors: Reiff Marian , Mueller Rebecca , Mulchandani Surabhi , Spinner Nancy B. , Pyeritz Reed E. , Bernhardt Barbara A. 
Published: September 2013

AbstractThe utilization of genome‐wide chromosomal microarray analysis (CMA) in pediatric clinical practice provides an opportunity to consider how genetic diagnostics is evolving, and to prepare for the clinical integration of genome‐wide sequencing technologies. We conducted semi‐structured interviews with 15 healthcare providers (7 genetic counselors, 4 medical geneticists, and 4 non‐genetics providers) to investigate the impact of CMA on clinical practice, and implications for providers, patients and families. Interviews were analyzed qualitatively using content analysis. Most providers reported that genomic testing enhanced their professional experience and was beneficial to patients, primarily due to the improved diagnostic rate compared with earlier chromosomal studies. Other effects on practice included moving towards genotype‐first diagnosis and broadening indications for chromosomal testing. Opinions varied concerning informed consent and disclosure of results. The duty to disclose incidental findings (IFs) was noted; however concerns were raised about potential psychosocial harms of disclosing pre‐symptomatic findings. Tensions were revealed between the need for comprehensive informed consent for all families and the challenges of communicating time‐consuming and potentially anxiety‐provoking information regarding uncertain and incidental findings that may be relevant only in rare cases. Genetic counselors can play an important role in liaising with families, health professionals and testing laboratories, providing education and guidance to non‐genetics providers, and enabling families to receive adequate pre‐and post‐test information and follow‐up care.
Identifying Outcomes of Clinical Genetic Services: Qualitative Evidence and Methodological Considerations
Authors: Pithara Christalla 
Published: September 2013

AbstractExtensive research into the tangible and intangible implications of Clinical Genetic Services (CGSs) has confirmed the relevance of a multidimensional outcome of benefit conceptually linked to perceived control. This paper aims to report qualitative findings from one small study aiming to add to the evidence pool confirming the relevance of such an outcome to participants from one UK clinical genetics center. Data were collected using focus groups and individual interviews with 22 service users from the following conditions: Hereditary Breast and Ovarian Cancer (HBOC), von Hippel Lindau disorder (VHL), Duchenne and Becker muscular dystrophy (DBMD), cystic fibrosis (CF) and tuberous sclerosis (TS). Transcripts were analyzed using thematic analysis and four dimensions of benefit were identified relating to cognitive, behavioral, social and emotional consequences. These dimensions related to an overarching conceptual outcome described as Perceived Familial Control. Findings are discussed to illustrate the inter‐generational and intra‐generational familial dimensions of CGSs and reinforce the significance of a familial focus to any genetics‐specific outcome measure. The prospect and methodological considerations of a familial composite outcome measure for measuring overall benefit of CGSs is discussed based on current and past findings.
Potential biomarkers of long‐term benefit from single‐agent trastuzumab or lapatinib in HER2‐positive metastatic breast cancer
Authors: Montemurro Filippo , Prat Aleix , Rossi Valentina , Valabrega Giorgio , Sperinde Jeff , Peraldo-Neia Caterina , Donadio Michela , Galván Patricia , Sapino Anna , Aglietta Massimo , Baselga José , Scaltriti Maurizio 
Published: September 2013

In 2009 a prospective, randomized Phase II trial (NCT00842998) was initiated to evaluate the activity of HER2‐targeting agents without chemotherapy (CT) in HER2‐positive metastatic breast cancer (MBC) patients. The primary tumors of the patients enrolled in this study offered a unique opportunity to identify biomarkers that could predict durable clinical benefit from CT‐free anti‐HER2 therapy.Patients with HER2‐positive MBC were randomized to trastuzumab or lapatinib as first‐line therapy. CT was added to anti‐HER2 therapy in patients failing to achieve tumor regression at the 8‐week evaluation and in those progressing at any time. Expression analysis of 105 selected genes was performed from formalin‐fixed paraffin‐embedded primary tumor samples. The research‐based PAM50 intrinsic subtypes were also identified. Additionally, quantitative HER2 (H2T) and p95HER2 (p95) protein expression were evaluated by HERmark® and VeraTag® assay, respectively. Predictors of persistence on protocol (PP) were studied by Cox univariate and multivariate analysis.Nineteen patients were enrolled. Median overall survival was 43 months and median PP was 3.8 months (0.8–38.8+), with 4 patients (21.1%) persisting on single agent trastuzumab or lapatinib for longer than 12 mo (14.9–38.8 + mo). Seventeen patients were evaluable for PP. Gene expression analysis revealed that high expression of the 17q12‐21 amplicon genes HER2 and GRB7, and the PAM50 HER2‐enriched intrinsic profile, were significantly associated with longer PP. Conversely, high expression of luminal‐related genes such as PGR, MDM2 or PIK3CA, or the PAM50 luminal intrinsic profile correlated with reduced PP. Moreover, increasing H2T/p95 ratio was found to be significantly associated with longer PP (HR 0.56 per 2‐fold increase in H2T/p95, P = 0.0015).Our data suggest that patients belonging to the “HER2‐enriched” subtype and/or having high H2T/p95 protein expression ratio are exquisitely sensitive to anti‐HER2 agents. MBC patients with these tumors could be candidates for studies aimed at establishing chemotherapy‐free regimens.
Co‐contractive Activation of the Superficial Multifidus During Volitional Preemptive Abdominal Contraction
Authors: Matthijs Omer C.G. , Dedrick Gregory S. , James C. Roger , Brismée Jean‐Michel , Hooper Troy L. , McGalliard Michael K. , Sizer Phillip S. 
Published: September 2013

ObjectiveTo investigate whether the superficial multifidus (MF) muscle at the lower lumbar spine displayed co‐contraction during volitional preemptive abdominal contraction (VPAC) through the abdominal drawing‐in maneuver (ADIM) or the abdominal bracing maneuver (ABM) in 3 different postural positions.DesignA within‐subject cohort design.SettingA clinical laboratory.ParticipantsA healthy convenience sample of 21 women and 13 men; mean age (SD), 25.5 ± 6.5 years.MethodsWe collected surface electromyographic measurements for the superficial MF at the L5 vertebral level and abdominal wall muscles. Ultrasound imaging was used during screening and testing sessions for confirming transverse abdominis muscle activation while subjects maintained a relaxed state without volitional abdominal contraction (no‐VPAC) and performed ADIM and ABM in 3 postural positions: supine, 4‐point kneeling, and upright standing.Main Outcome MeasurementThe frequency of superficial MF co‐contraction occurrences (percentage of the total number of conditions) was measured during ADIM and ABM in 3 different postural positions.Data AnalysesA Cochran Q test for k‐related samples (α = 0.05) was used for data analysis.ResultsActivation of the abdominal wall by using either VPAC strategy resulted in a significantly greater MF co‐contraction occurrence when compared with no‐VPAC in each position. The ABM produced a significantly higher MF co‐contractive occurrence versus the ADIM in the supine position.ConclusionBoth VPAC strategies produced a co‐contractive MF response, which appears to be important for lumbar segmental stabilization and control. Analysis of the results suggests that VPAC strategies are appropriate for coactivating the MF, which can enhance spinal protection and rehabilitation responses.
Endothelial PAS Domain Protein 1 Chr2:46441523(hg18) Polymorphism Is Associated With Susceptibility to High Altitude Pulmonary Edema in Han Chinese
Authors: Yang Ying-zhong , Wang Ya-ping , Qi Yu-juan , Du Yang , Ma Lan , Ga Qin , Ge Ri-li 
Published: September 2013

Objective The purpose of this study was to test the hypothesis that polymorphisms in the endothelial PAS domain protein 1 (EPAS1) gene are associated with the susceptibility to high altitude pulmonary edema (HAPE) in Han Chinese. Methods This study enrolled 153 HAPE patients (HAPE-p), matched with Han Chinese resistant to HAPE (HAPE-r) and local highland Tibetans from Yushu earthquake construction population in Qinghai where the altitude is more than 3500 m above sea level. The polymorphism of EPAS1 chr2:46441523(hg18) was genotyped by polymerase chain reaction restriction fragment length polymorphism and confirmed by DNA sequencing. Results The frequencies of EPAS1 chr2:46441523(hg18) polymorphism C allele were significantly higher in the HAPE-p group than in the HAPE-r group ( P < .001), but the frequencies of heterozygous C/G were significantly higher in the HAPE-r group than in the HAPE-p group ( P < .001). Moreover, the frequencies of the EPAS1 chr2:46441523(hg18) polymorphism G allele were significantly higher in the highland Tibetan group than in the HAPE-p and HAPE-r groups. Conclusions The EPAS1 chr2:46441523(hg18) polymorphism C is strongly associated with susceptibility to HAPE in Han Chinese, and the EPAS1 chr2:46441523(hg18) polymorphism G is present at high frequency and may be associated with high altitude adaptation in the Tibetans.