bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hereditary inclusion‐body myopathy: Clues on pathogenesis and possible therapy
Authors: Broccolini Aldobrando , Gidaro Teresa , Morosetti Roberta , Mirabella Massimiliano 
Published: July 2009

AbstractHereditary inclusion‐body myopathy (h‐IBM), or distal myopathy with rimmed vacuoles (DMRV), is an autosomal recessive disorder with onset in early adult life and a progressive course leading to severe disability. h‐IBM/DMRV is due to mutations of a gene (GNE) that codes for a rate‐limiting enzyme in the sialic acid biosynthetic pathway. Despite the identification of the causative gene defect, it has not been unambiguously clarified how GNE gene mutations impair muscle metabolism. Although numerous studies have indicated a key role of hyposialylation of glycoproteins in h‐IBM/DMRV pathogenesis, others have demonstrated new and unpredicted functions of the GNE gene, outside the sialic acid biosynthetic pathway, that may also be relevant. This review illustrates the clinical and pathologic characteristics of h‐IBM/DMRV and the main clues available to date concerning the possible pathogenic mechanisms and therapeutic perspectives of this disorder. Muscle Nerve, 2009
Amyotrophic lateral sclerosis—Evolutionary and other perspectives
Authors: Eisen Andrew 
Published: July 2009

AbstractIn this study some particular and puzzling aspects of amyotrophic lateral sclerosis (ALS) are discussed, with an emphasis on the role of neocortical evolution. Other issues explored include the nature of the clinical deficit in ALS; anatomical and evolutionary aspects of the neocortex, motor cortex, and corpus callosum; and some discussion as to when ALS begins. In common with other neurodegenerative diseases, ALS may result from dysfunctional neocortical circuitry. It is suggested that the disease starts some years prior to clinical onset, possibly in adolescence, or even earlier, when there is marked alteration of anatomy, physiology, and biochemistry of the neocortex. The failure of naturally occurring animal models of ALS or models that truly replicate the human disease may reflect the unique, continued, and increased neocortical evolution of modern humans. Muscle Nerve 40: 297–304, 2009
Axonal sensory motor neuropathy in copper‐deficient Wilson's disease
Authors: Foubert‐Samier Alexandra , Kazadi Annabelle , Rouanet Marie , Vital Anne , Lagueny Alain , Tison FrançOis , Meissner Wassilios 
Published: July 2009

AbstractCopper deficiency may cause myeloneuropathy or progressive limb weakness. By contrast, Wilson's disease (WD) is characterized by progressive copper accumulation with hepatic and neurological impairment and requires life‐long treatment with zinc and/or chelator agents. We report a WD patient who developed axonal sensory motor neuropathy in the context of copper deficiency due to his treatment with zinc and chelators. Exhaustive testing for other etiologies was negative. After treatment adjustment, only mild clinical improvement was noted during long‐term follow‐up. Muscle Nerve 40: 294–296, 2009
Biomechanical findings in rats undergoing fascial reconstruction with graft materials suggested as an alternative to polypropylene
Authors: Konstantinovic M.L. , Ozog Y. , Spelzini F. , Pottier C. , De Ridder D. , Deprest J. 
Published: July 2009

AbstractAimsGraft materials used for pelvic floor reinforcement should still be considered as investigational and, therefore, evaluated experimentally and within clinical trials. The present report describes our biomechanical findings in rats implanted with selected novel implant materials, which in recent years have been suggested as alternatives to plain polypropylene (PP) meshes.MethodsFull thickness abdominal wall defects were primarily repaired by the implant of interest. Experiments involved eight different implant materials: two partly degradable synthetic implants, that is, a hybrid of polyglactin 910 with PP (Vypro II) and collagen coated PP (Pelvitex); two non‐cross linked (Surgisis, InteXēn LP) and two cross‐linked materials (Pelvicol, Pelvisoft) and two porous modifications of InteXēn LP and Pelvicol implants. At different time points (7, 14, 30, and 90 days), the implants and surrounding host tissue (explant) were harvested and tensiometry was performed. Tensile strength and location of breakage were recorded.ResultsIn general resorbable non‐cross linked collagen matrices and porous materials were weaker after 90 days; similar behavior was seen for implant materials alone and their construction with the surrounding native tissue. Both non‐porous and porous modification of InteXēn LP appeared at 90 days as a very thin layer of collagen that was two‐thirds, respectively one‐third of the initial thickness.ConclusionsIn experimental conditions, sufficient strength was obtained only after 3 months, and PP containing constructs appeared as the strongest though reconstruction with Pelvicol showed comparable outcomes. Lower values for strength of non‐cross linked and porous collagen materials are questioning their efficacy for pelvic floor reconstruction. Neurourol. Urodynam. 29:488–493, 2010. © 2009 Wiley‐Liss, Inc.
On scheduling a single machine to minimize a piecewise linear objective function: A compact MIP formulation
Authors: Baptiste Philippe , Sadykov Ruslan 
Published: July 2009

AbstractWe study the scheduling situation in which a set of jobs subjected to release dates and deadlines are to be performed on a single machine. The objective is to minimize a piecewise linear objective function ∑jFj where Fj(Cj) corresponds to the cost of the completion of job j at time Cj. This class of function is very large and thus interesting both from a theoretical and practical point of view: It can be used to model total (weighted) completion time, total (weighted) tardiness, earliness and tardiness, etc. We introduce a new Mixed Integer Program (MIP) based on time interval decomposition. Our MIP is closely related to the well‐known time‐indexed MIP formulation but uses much less variables and constraints. Experiments on academic benchmarks as well as on real‐life industrial problems show that our generic MIP formulation is efficient. © 2009 Wiley Periodicals, Inc. Naval Research Logistics, 2009
Understanding and manipulating the RF fields at high field MRI
Authors: Ibrahim Tamer S. , Hue Yik‐Kiong , Tang Lin 
Published: July 2009

AbstractThis paper presents a complete overview of the electromagnetics (radiofrequency aspect) of MRI at low and high fields. Using analytical formulations, numerical modeling (computational electromagnetics), and ultrahigh field imaging experiments, the physics that impacts the electromagnetic quantities associated with MRI, namely (1) the transmit field, (2) receive field, and (3) total electromagnetic power absorption, is analyzed. The physical interpretation of the above‐mentioned quantities is investigated by electromagnetic theory, to understand ‘What happens, in terms of electromagnetics, when operating at different static field strengths?’ Using experimental studies and numerical simulations, this paper also examines the physical and technological feasibilities by which all or any of these specified electromagnetic quantities can be manipulated through techniques such as B1 shimming (phased array excitation) and signal combination using a receive array in order to advance MRI at high field strengths. Pertinent to this subject and with highly coupled coils operating at 7 T, this paper also presents the first phantom work on B1 shimming without B1 measurements. Copyright © 2009 John Wiley & Sons, Ltd.
High‐accuracy differential quadrature finite element method and its application to free vibrations of thin plate with curvilinear domain
Authors: Xing Yufeng , Liu Bo 
Published: July 2009

AbstractBased on the differential quadrature (DQ) rule, the Gauss Lobatto quadrature rule and the variational principle, a DQ finite element method (DQFEM) is proposed for the free vibration analysis of thin plates. The DQFEM is a highly accurate and rapidly converging approach, and is distinct from the differential quadrature element method (DQEM) and the quadrature element method (QEM) by employing the function values themselves in the trial function for the title problem.The DQFEM, without using shape functions, essentially combines the high accuracy of the differential quadrature method (DQM) with the generality of the standard finite element formulation, and has superior accuracy to the standard FEM and FDM, and superior efficiency to the p‐version FEM and QEM in calculating the stiffness and mass matrices.By incorporating the reformulated DQ rules for general curvilinear quadrilaterals domains into the DQFEM, a curvilinear quadrilateral DQ finite plate element is also proposed. The inter‐element compatibility conditions as well as multiple boundary conditions can be implemented, simply and conveniently as in FEM, through modifying the nodal parameters when required at boundary grid points using the DQ rules. Thus, the DQFEM is capable of constructing curvilinear quadrilateral elements with any degree of freedom and any order of inter‐element compatibilities. A series of frequency comparisons of thin isotropic plates with irregular and regular planforms validate the performance of the DQFEM. Copyright © 2009 John Wiley & Sons, Ltd.
Smooth finite strain plasticity with non‐local pressure support
Authors: Areias P. M. A. , Rabczuk T. 
Published: July 2009

AbstractThe aim of this work is to introduce an alternative framework to solve problems of finite strain elastoplasticity including anisotropy and kinematic hardening coupled with any isotropic hyperelastic law. After deriving the constitutive equations and inequalities without any of the customary simplifications, we arrive at a new general elasto‐plastic system. We integrate the elasto‐plastic algebraico‐differential system and replace the loading–unloading condition by a Chen–Mangasarian smooth function to obtain a non‐linear system solved by a trust region method. Despite being non‐standard, this approach is advantageous, since quadratic convergence is always obtained by the non‐linear solver and very large steps can be used with negligible effect in the results. Discretized equilibrium is, in contrast with traditional approaches, smooth and well behaved. In addition, since no return mapping algorithm is used, there is no need to use a predictor. The work follows our previous studies of element technology and highly non‐linear visco‐elasticity. From a general framework, with exact linearization, systematic particularization is made to prototype constitutive models shown as examples. Our element with non‐local pressure support is used. Examples illustrating the generality of the method are presented with excellent results. Copyright © 2009 John Wiley & Sons, Ltd.
The chronology of epiphyseal union in the hand and foot from dry bone observations
Authors: Cardoso H. F. V. , Severino R. S. S. 
Published: July 2009

AbstractDry bone data for epiphyseal union at the hand and foot are scarce, incomplete or inexistent. This study documents the timing of fusion of secondary ossification centres at the hand and foot in a sample of known‐age human skeletons. The sample comprises 92 individuals (49 females and 43 males), between the ages of 9 and 22 years, from the identified skeletal collection curated at the National Museum of Natural History in Lisbon, Portugal. Epiphyseal union was recorded on the right and left side at the long bones of the hand (metacarpus and phalanges) and foot (metatarsus and phalanges), and also at the talus and calcaneus, using a three stage scheme (non‐fused; partially fused and completely fused). In the hand, intra‐observer agreement was 99% and inter‐observer agreement was 98%. In the foot, both intra‐ and inter‐observer agreement reached 100%. Lateral asymmetry was not significant and only 1.1% of the individuals in the sample were found to be asymmetric in the stage of epiphyseal fusion (1.8% in the hand and 0.3% in the foot). A minimum mean advancement of 1–2 years in females relative to males was observed. In the hand bones, epiphyseal union occurred between 12–18 years in females and 16–18 years in males. Comparatively, in the foot bones, epiphyseal union occurred slightly later, with the exception of the talus and calcaneus, which are the earliest bones to mature. Data in this study can be used to estimate the age of unidentified skeletal remains, either directly or by aiding in the modification of incomplete or imprecise data that have been collected over the years. Copyright © 2009 John Wiley & Sons, Ltd.
The impact of CD34+ cell dose on platelet engraftment in pediatric patients following unmanipulated haploidentical blood and marrow transplantation
Authors: Chang Ying‐Jun , Xu Lan‐Ping , Liu Dai‐Hong , Liu Kai‐Yan , Han Wei , Chen Yu‐Hong , Wang Yu , Chen Huan , Wang Jing‐Zhi , Zhang Xiao‐Hui , Zhao Xiang‐Yu , Huang Xiao‐Jun 
Published: July 2009

AbstractObjectiveUnmanipulated haploidentical blood and marrow transplantation has been developed as an alternative transplant strategy for pediatric patients with hematological diseases. The aim of this study was to investigate the effects of donor and recipient characteristics on hematopoietic recovery in pediatric patients following unmanipulated haploidentical transplantation.MethodsFactors correlating with hematopoietic recovery in 133 pediatric patients after unmanipulated haploidentical transplantation were analyzed retrospectively.ResultsAll patients reached an absolute neutrophil count of 500/µl in a median of 12 days (range, 9–49 days). One hundred thirty‐three patients reached an untransfused platelet count of more than 20,000/µl in a median of 15 days (range, 7–180 days). Univariate analysis showed five factors associated with platelet engraftment. These were time to transplantation after diagnosis (P = 0.072), infused nuclear cells/kg of recipient weight (P = 0.028), CD3+ cells/kg of recipient weight (P = 0.082), CD4+ cells/kg of recipient weight (P = 0.083), and CD34+ cells/kg of recipient weight (P = 0.012). Multivariate analysis showed that infused CD34+ cells/kg of recipient weight (CD34+ cells more than 2.42 × 106/kg vs. less than or equal to 2.42 × 106/kg, HR = 1.733; 95% CI 1.222–2.549; P = 0.002) were significantly associated with an increased risk of platelet engraftment. Patients receiving a CD34+ cell dose more than 2.42 × 106/kg had a short time [12 days (range, 7–176 days)] to achieve an untransfused platelet engraftment, compared to 18 days (range, 7–180 days) in patients receiving a lower dose (P < 0.001).ConclusionsOur results suggest that low number of CD34+ cells in allografts is a critical factor associated with delayed platelet engraftment after unmanipulated haploidentical transplantation in pediatric patients. Pediatr Blood Cancer 2009;53:1100–1106. © 2009 Wiley‐Liss, Inc.
Increased vulnerability of the spinal cord to radiation or intrathecal chemotherapy during adolescence: A report from the Children's Oncology Group
Authors: Bleyer Archie , Choi Mehee , Wang Samuel J. , Fuller Clifton D. , Raney R. Beverly 
Published: July 2009

AbstractPurposeTo assess the rate of spinal cord toxicity in adolescents resulting from chemoradiotherapy of parameningeal sarcoma.Methods and MaterialsOf 152 patients with parameningeal sarcoma treated per the Intergroup Rhabdomyosarcoma Study Group protocol from 1977 through 1989, eight developed paralyzing ascending myelitis after intrathecal chemotherapy with cytosine arabinoside, methotrexate, and hydrocortisone administered during and after radiation therapy to volumes that included part of the spinal cord. The eight cases include three not previously published.ResultsOf eight patients who developed CNS toxicity after intrathecal chemotherapy and radiotherapy for parameningeal rhabdomyosarcoma, all but one were between 13 and 18 years of age when treated. This severe toxicity occurred in one quarter of 28 adolescents treated with the regimen in comparison with one of 123 children 12 years of age or less (P < 0.0001), a rate that was as much as 30 times higher in the adolescents. Lengthening of the spinal cord during the pubertal growth spurt may account for the apparent increased vulnerability.ConclusionsChemoradiotoxicity‐associated spinal cord injury appears to be more likely to occur in adolescents than in younger or older ages. This observation appears to reverse a conventional wisdom in which the central nervous system is thought to become more resistant to the neurotoxic effects of chemoradiotherapy as it matures. Pediatr Blood Cancer 2009; 53:1205–1210. © 2009 Wiley‐Liss, Inc.
Treatment of children with acute promyelocytic leukemia: Results of the first North American intergroup trial INT0129
Authors: Gregory John , Kim Haesook , Alonzo Todd , Gerbing Rob , Woods William , Weinstein Howard , Shepherd Lois , Schiffer Charles , Appelbaum Frederick , Willman Cheryl , Wiernik Peter , Rowe Jacob , Tallman Martin , Feusner James 
Published: July 2009

AbstractBackgroundThis report focuses on the children enrolled on the first North American Intergroup study of APL (INT0129). This study was designed to compare the rates of CR, disease‐free survival (DFS), overall survival (OS) and toxicity of therapy with all‐trans‐retinoic acid (ATRA) for remission induction and/or maintenance compared to conventional chemotherapy in patients with previously untreated APL.ProcedureFifty‐three patients who were documented to have the t(15;17) translocation were able to be evaluated for toxicity of treatment, outcome of induction, and survival.ResultsThe overall CR rate was 81%. The estimated 5‐year DFS from time of CR was 41% for all patients. The estimated 5‐year OS for all patients from entry into the study was 69%. The 5‐year DFS from time of CR for patients who were randomized to ATRA for induction or maintenance or both was 48% compared to 0% for patients who never received ATRA (P < 0.0001).ConclusionsThe most important finding of our study is that a significant DFS advantage exists for children with APL who received ATRA during induction or maintenance or both compared to children who received no ATRA. Furthermore, remissions in these children appear durable as the OS rates are stable at 10 years. Pediatr Blood Cancer 2009;53:1005–1010. © 2009 Wiley‐Liss, Inc.
Pattern recognition and genetic algorithms for discrimination of orange juices and reduction of significant components from headspace solid‐phase microextraction
Authors: Rinaldi Maurizio , Gindro Roberto , Barbeni Massimo , Allegrone Gianna 
Published: July 2009

AbstractIntroduction – Orange (Citrus sinensis L.) juice comprises a complex mixture of volatile components that are difficult to identify and quantify. Classification and discrimination of the varieties on the basis of the volatile composition could help to guarantee the quality of a juice and to detect possible adulteration of the product.Objective – To provide information on the amounts of volatile constituents in fresh‐squeezed juices from four orange cultivars and to establish suitable discrimination rules to differentiate orange juices using new chemometric approaches.Methodology – Fresh juices of four orange cultivars were analysed by headspace solid‐phase microextraction (HS‐SPME) coupled with GC‐MS. Principal component analysis, linear discriminant analysis and heuristic methods, such as neural networks, allowed clustering of the data from HS‐SPME analysis while genetic algorithms addressed the problem of data reduction. To check the quality of the results the chemometric techniques were also evaluated on a sample.Results – Thirty volatile compounds were identified by HS‐SPME and GC‐MS analyses and their relative amounts calculated. Differences in composition of orange juice volatile components were observed. The chosen orange cultivars could be discriminated using neural networks, genetic relocation algorithms and linear discriminant analysis. Genetic algorithms applied to the data were also able to detect the most significant compounds.Conclusions – SPME is a useful technique to investigate orange juice volatile composition and a flexible chemometric approach is able to correctly separate the juices. Copyright © 2009 John Wiley & Sons, Ltd.
Genetic considerations in the prenatal diagnosis of overgrowth syndromes
Authors: Vora Neeta , Bianchi Diana W. 
Published: July 2009

AbstractLarge (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister‐Killian, Beckwith‐Wiedemann, Sotos, Perlman, and Simpson‐Golabi‐Behmel. We also discuss prenatal diagnosis options and recurrence risks. Copyright © 2009 John Wiley & Sons, Ltd.
The effectiveness of prenatal serum biomarker screening for neural tube defects in second trimester pregnant women: a meta‐analysis
Authors: Wang Zhi‐Ping , Li Hui , Hao Lian‐Zheng , Zhao Zhong‐Tang 
Published: July 2009

AbstractBackgroundNeural tube defects (NTDs) are common and serious birth defects all over the world. Prenatal screening for NTDs using maternal serum alpha‐fetoprotein (MSAFP) during the second trimester of pregnancy has been widely used, but its effectiveness remains unclear.MethodsWe evaluated the studies published in the English and Chinese on MSAFP screening for NTDs. The homogeneity of the studies was evaluated by the forest graph. Meta‐analysis was applied to calculate the combined effect values and their 95% confidence intervals.ResultsAs many as 22 articles were selected according to the criteria and were included in the meta‐analysis, for a total of 684 140 pregnant women screened during the second trimester. All the studies selected were homogenous according to the forest graph (χ2 = 25.17, P > 0.10). The combined relative risk estimate was 0.25 and its 95% confidence interval was 0.21 to 0.29. The combined protective rate was 75%. The sensitivity and specificity of MSAFP screening were 75.1 and 97.7%, respectively.ConclusionUse of MSAFP during the second trimester in pregnant women is an effective measure for the screening of NTDs. Copyright © 2009 John Wiley & Sons, Ltd.