bluuebunny/crossref_metadata_2025_split huggingface dataset:
Nosology and classification of genetic skeletal disorders: 2010 revision
Authors: Warman Matthew L. , Cormier‐Daire Valerie , Hall Christine , Krakow Deborah , Lachman Ralph , LeMerrer Martine , Mortier Geert , Mundlos Stefan , Nishimura Gen , Rimoin David L. , Robertson Stephen , Savarirayan Ravi , Sillence David , Spranger Juergen , Unger Sheila , Zabel Bernhard , Superti‐Furga Andrea 
Published: March 2011

AbstractGenetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The aim is to provide the Genetics, Pediatrics and Radiology community with a list of recognized genetic skeletal disorders that can be of help in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists interested in skeletal biology. In the 2010 revision, 456 conditions were included and placed in 40 groups defined by molecular, biochemical, and/or radiographic criteria. Of these conditions, 316 were associated with mutations in one or more of 226 different genes, ranging from common, recurrent mutations to “private” found in single families or individuals. Thus, the Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. The Nosology should be useful for the diagnosis of patients with genetic skeletal diseases, particularly in view of the information flood expected with the novel sequencing technologies; in the delineation of clinical entities and novel disorders, by providing an overview of established nosologic entities; and for scientists looking for the clinical correlates of genes, proteins and pathways involved in skeletal biology. © 2011 Wiley‐Liss, Inc.
Cushing syndrome secondary to ectopic adrenocorticotropic hormone secretion
Authors: Ejaz Shamim , Vassilopoulou‐Sellin Rena , Busaidy Naifa L. , Hu Mimi I. , Waguespack Steven G. , Jimenez Camilo , Ying Anita K. , Cabanillas Maria , Abbara Maher , Habra Mouhammed Amir 
Published: March 2011

AbstractBACKGROUND:Cushing syndrome (CS) secondary to ectopic adrenocorticotropic hormone (ACTH) secretion (EAS) has been described in association with a variety of tumors. The current experience with this syndrome was based on a few case series and individual case reports. Limited data were available about the tumors associated with CS‐EAS in a cancer center setting. In this report, the authors have described their experience with CS‐EAS at The University of Texas MD Anderson Cancer Center to further enhance the current understanding and management of this syndrome.METHODS:This was a retrospective review of 43 patients with CS‐EAS who were diagnosed between 1979 and 2009 at The University of Texas MD Anderson Cancer Center.RESULTS:Different neuroendocrine tumors were associated with CS‐EAS. Twenty‐one patients (48.9%) had tumors located in the chest cavity, with bronchial carcinoid and small cell lung cancer representing the 2 most common causes. The ACTH source remained occult in 4 patients (9.3%) despite extensive workup. Clinical presentation varied, and the classic features of CS were not evident in some patients. Death occurred in 27 patients (62.8%), and the median overall survival was 32.2 months. Major morbidities included new‐onset or worsening hyperglycemia (77%), symptomatic venous thromboembolism (14%), and infections (23%).CONCLUSIONS:In patients with CS‐EAS who attended a comprehensive cancer center, tumors originating in the chest cavity were the leading tumors associated with this syndrome. The authors suspect that CS‐EAS is under reported because of the atypical presentation in some patients. Thus, they suggest careful evaluation of patients with neuroendocrine tumors to avoid missing coexisting CS‐EAS. Cancer 2011;. © 2011 American Cancer Society.
Higher rate of BRAF mutation in papillary thyroid cancer over time
Authors: Mathur Aarti , Moses Willeford , Rahbari Reza , Khanafshar Elham , Duh Quan‐Yang , Clark Orlo , Kebebew Electron 
Published: March 2011

AbstractBACKGROUND:The incidence of thyroid cancer has doubled over the past decade. The reason for this dramatic increase in incidence is controversial. Some investigators have suggested that the increased incidence is because of increased detection of small primary tumors as a result of diagnostic scrutiny. Conversely, some investigators have demonstrated an increased incidence across all tumor sizes, suggesting that other factors may play a role. This study was undertaken to investigate the clinical, pathologic, and molecular changes present in papillary thyroid cancer over a 15‐year period during which the incidence of papillary thyroid cancer doubled.METHODS:A total of 628 patients with conventional papillary thyroid cancer and 228 tumor samples from a single institution were analyzed from 1991 to 2005. Time‐trend analyses of demographic, clinical, pathologic, and tumor genotype were performed over three 5‐year time periods: group I (1991‐1995), group II (1996‐2000), and group III (2001‐2005).RESULTS:The authors found no differences in age, sex, ethnicity, primary tumor size, rate of extrathyroidal invasion, or overall TNM cancer stage among the 3 time groups. The rate of BRAF V600E mutation was significantly higher in group III (88% BRAF V600E positive) as compared with groups I and II (51% and 43%, respectively) (P < .001). The rate of all the common somatic mutations was also significantly higher in group III (92% positive) as compared with groups I and II (68% and 64%, respectively) (P < .002).CONCLUSIONS:The rate of BRAF V600E mutation increased significantly over a 15‐year period at the authors' institution. The findings suggest that a higher rate of BRAF mutation in papillary thyroid cancer may contribute to the increasing incidence of thyroid cancer. Cancer 2011;. © 2011 American Cancer Society.
Circular Dichroism of a Finite Number of Identical Chromophores in a Helical Arrangement
Authors: Dick Bernhard 
Published: March 2011

AbstractCompact expressions to calculate the transition energies, absorption line strengths, and rotational line strengths of circular dichroism for the excitonic states in a helical arrangement of N identical chromophores are presented. The absorption spectrum A(ν) and the CD spectrum C(ν) are given in terms of the same function G(ν,α) as ${A\left( \nu \right) = a_1 G\left( {\nu ,0} \right) + a_2 G\left( {\nu ,\alpha } \right)}$, ${C\left( \nu \right) = \left( {s_1 - s_2 } \right)G\left( {\nu ,0} \right) + s_2 G\left( {\nu ,\alpha } \right) + s_3 {d \over {d\alpha }}G\left( {\nu ,\alpha } \right)}$. The function G(ν,α) depends only on the helical angle α and the number N of interacting chromophores. An analytical expression can be given when only next‐neighbor interactions are considered. All other structural parameters of the system (e.g. orientation of transition dipoles and the translation vector of the helix) enter only into the prefactors aj and sj.
High CD133 expression levels in gastrointestinal stromal tumors
Authors: Bozzi Fabio , Conca Elena , Manenti Giacomo , Negri Tiziana , Brich Silvia , Gronchi Alessandro , Pierotti Marco A. , Tamborini Elena , Pilotti Silvana 
Published: March 2011

AbstractBackground:Gastrointestinal stromal tumours (GISTs) have activating KIT or PDGFRA gene mutations. Imatinib mesylate, which targets KIT and PDGFRA, is effective in treating GISTs, but 90% of GIST patients become imatinib‐resistant as a result of acquiring secondary KIT mutations. Recent findings suggest that tumour growth can be driven by mutated self‐renewing progenitors known as cancer stem cells (CSCs), which are believed to be present in all neoplastic proliferations and are thought to accumulate mutations. It is therefore possible that the acquisition of secondary KIT mutations during imatinib treatment may occur in putative GIST CSCs.Methods:Using flow cytometry, in vivo murine xenografts and molecular characterization, we tried to identify putative GIST CSCs by looking for the occurrence of common CSC markers such as KIT, CD133, CD90, CD44, and CD34 in 18 surgical samples obtained from nine untreated and nine imatinib‐treated KIT‐mutated GIST patients.Results:The results indicated the homogeneous and previously unreported expression of CD133 (18/18), CD90 (15/16), and CD44 (12/14), together with KIT (18/18) and CD34 (13/18). This profile is similar to that identified in bone marrow mesenchymal progenitors and does not seem to be significantly modified by imatinib as only marginal changes in KIT and CD133 expression (P ≤0.05, Mann‐Whitney test) were found in the treated samples.Conclusions:These findings suggest that GISTs are a clonal expansion of quite primitive cells that strictly depend on KIT oncogenic addiction, and have no cancer/stem cell component that can be detected by means of the antigens used in this study. © 2011 International Clinical Cytometry Society
Immunophenotypic signatures of benign and dysplastic granulopoiesis by cytomic profiling
Authors: Finn William G. , Harrington Alexandra M. , Carter Kevin M. , Raich Raviv , Kroft Steven H. , Hero Alfred O. 
Published: March 2011

AbstractBackground:The role of flow cytometry (FCM) in diagnosing myelodysplastic syndromes (MDS) remains controversial, because analysis of myeloid maturation may involve subjective interpretation of sometimes subtle patterns on multiparameter FCM.Methods:Using six‐parameter marker combinations known to be useful in evaluating the myeloid compartment in MDS, we measured objective immunophenotypic differences between non‐neoplastic (n = 25) and dysplastic (n = 17) granulopoiesis using a novel method, called Fisher information nonparametric embedding (FINE), that measures information distances among FCM datasets modeled as individual high‐dimensional probability density functions, rather than as sets of two‐dimensional histograms. Information‐preserving component analysis (IPCA) was used to create information‐optimized “rotated” two‐dimensional histograms for visualizing myelopoietic immunophenotypes for each individual sample.Results:There was a consistent trend of segregation of higher‐grade MDS (RAEB and RCMD) from benign by FINE analysis. This difference was accentuated in cases with morphologic dysgranulopoiesis and in cases with clonal cytogenetic abnormalities. However, lower grades of MDS or cases that lacked morphologic dysgranulopoiesis showed much greater overlap with non‐neoplastic cases. Two cases of reactive left shift were consistently embedded within the higher‐grade MDS group. IPCA yielded two‐dimensional histogram projections for each individual case by relative weighting of measured cellular characteristics, optimized for preserving information distances derived through FINE.Conclusions:Objective analysis by information geometry supports the conclusions of previous studies that there are immunophenotypic differences in the maturation patterns of benign granulopoiesis and high grade MDS, but also reinforces the known pitfalls of overlap between low‐grade MDS and benign granulopoiesis and overlap between reactive granulocytic left shifts and dysplastic granulopoiesis. © 2011 International Clinical Cytometry Society
Tissue regeneration after injury in adult zebrafish: The regenerative potential of the caudal fin
Authors: Shao Jinping , Chen Dongyan , Ye Qijun , Cui Jianlin , Li Yuhao , Li Lei 
Published: March 2011

AbstractThe zebrafish has the potential to regenerate many of its tissues. In this study, we examined caudal fin regeneration in zebrafish that received repeated injuries (fin amputation) at different ages. In zebrafish that received repeated injuries, the potential for caudal fin regeneration, such as tissue growth and the expression of regeneration marker genes (msxb, fgf20a, bmp2b), did not decline in comparison to zebrafish that received only one amputation surgery. The process of initial fin regeneration (e.g., tissue outgrowth and the expression of regeneration marker genes at 7 days post‐amputation) did not seem to correlate with age. However, slight differences in fin outgrowth were observed between young and old animals when examined in the late regeneration stages (e.g., 20 and 30 days post‐amputation). Together, the data suggest that zebrafish has unlimited regenerative potential in the injured caudal fin. Developmental Dynamics 240:1271–1277, 2011. © 2011 Wiley‐Liss, Inc.
Evidence for partial epithelial‐to‐mesenchymal transition (pEMT) and recruitment of motile blastoderm edge cells during avian epiboly
Authors: Futterman Matt A. , García Andrés J. , Zamir Evan A. 
Published: March 2011

AbstractEmbryonic epiboly has become an important developmental model for studying the mechanisms underlying collective movements of epithelial cells. In the last couple of decades, most studies of epiboly have utilized Xenopus or zebrafish as genetically tractable model organisms, while the avian epiboly model has received virtually no attention. Here, we re‐visit epiboly in quail embryos and characterize several molecular markers of epithelial‐to‐mesenchymal transition (EMT) in the inner zone of the extraembryonic Area Opaca and at the blastoderm edge. Our results show that the intermediate filament vimentin, a widely‐used marker for the mesenchymal phenotype, is strongly expressed in the edge cells compared to the cells in the inner zone. Laminin, an extracellular matrix protein that is a major structural and adhesive component of the epiblast basement membrane and the inner zone of the Area Opaca, is notably absent from the blastoderm edge. While these expression profiles are consistent with a mesenchymal phenotype, several other epithelial markers, including cytokeratin, β‐catenin, and E‐cadherin, are present in the blastoderm edge cells. Moreover, the results of a BrDU proliferation assay strongly suggest that expansion of the edge cell population is primarily due to recruitment of cells from the inner zone, as opposed to proliferation. Taken together, our data show that the edge cells of the avian blastoderm have characteristics of both epithelial and mesenchymal cells, and that the avian epiboly model, which has been dormant for so many years, may yet again prove to be helpful as a unique developmental model for studying partial EMT in the context of collective epithelial cell migration. Developmental Dynamics 240:1502–1511, 2011. © 2011 Wiley‐Liss, Inc.
A tryptophan hydroxlyase 1 reporter that directs Cre recombinase extinguishable placental alkaline phosphatase expression in serotonergic (5‐HT) neurons and peripheral tissues
Authors: Huynh Michael L. , Rivkin Elena , Mui Ryan , Cordes Sabine P. 
Published: March 2011

AbstractThe serotonergic (5‐HT) system modulates many behaviors and has been implicated in psychiatric disorders, but the density of 5‐HT processes has complicated analyses. We have used regulatory regions from the Tryptophan hydroxylase 1 (Tph1) gene to drive expression of LoxP‐flanked placental alkaline phosphatase (PLAP) to generate the Tph1‐Lox‐PLAP reporter mouse line. In these mice, PLAP is expressed in the hindbrain raphe nuclei and in peripheral tissues known to express Tph1. Tph1 is expressed at low levels in neurons. While, in Tph1‐Lox‐PLAP mice, most PLAP‐expressing neurons are monoaminergic, PLAP was expressed in only 5–10% of neurons expressing the predominant neuronal 5‐HT biosynthetic enzyme Tph2, serotonin transporter (SERT) or aromatic amino acid decarboxylase (AADC). To test this reporter further, we examined the brains of mice carrying the anorexia (anx) mutation, in which increased overall density of 5‐HT immunoreactivity had been previously observed at P21. PLAP‐labeling of processes in anx/anx and anx/+ mice was reduced at P0. By P10, distribution of PLAP‐labeled processes in anx/+ and +/+ cortices was indistinguishable, but differed markedly from that seen in the cortical layers of anx/anx mice. Thus, the Tph1‐LoxP‐PLAP reporter revealed a dosage sensitive role of the anx mutation in the early 5‐HT system and later cortical layer‐specific differences in 5‐HT process distribution in anx/anx mice. Thus, the Tph1‐LoxP‐PLAP reporter provides a sensitive indicator for analyses of serotonergic cells in the brain and periphery. genesis 49:851–861, 2011. © 2011 Wiley‐Periodicals, Inc.
Human CD8+ T cells drive Th1 responses through the differentiation of TNF/iNOS‐producing dendritic cells
Authors: Chong Shu Zhen , Wong Kok Loon , Lin Gen , Yang Christopher Maolin , Wong Siew‐Cheng , Angeli Veronique , MacAry Paul A. , Kemeny David Michael 
Published: March 2011

AbstractTNF/iNOS‐producing dendritic cells (Tip‐DCs) have been shown to arise during inflammation and are important mediators of immune defense. However, it is still relatively unclear which cell types contribute to their differentiation. Here we show that CD8+ T cells, through the interaction with DCs, can induce the rapid development of human monocytes into Tip‐DCs that express high levels of TNF‐α and iNOS. Tip‐DCs exhibited T‐cell priming ability, expressed high levels of MHC class II, upregulated co‐stimulatory molecules CD40, CD80, CD86, toll‐like receptors TLR2, TLR3, TLR4, chemokine receptors CCR1 and CX3CR1 and expressed the classical mature DC marker, CD83. Differentiation of monocytes into Tip‐DCs was partially dependent on IFN‐γ as blocking the IFN‐γ receptor on monocytes resulted in a significant decrease in CD40 and CD83 expression and in TNF‐α production. Importantly, these Tip‐DCs were capable of further driving Th1 responses by priming naive CD4+ T cells for proliferation and IFN‐γ production and this was partially dependent on Tip‐DC production of TNF‐α and NO. Our study hence identifies a role for CD8+ T cells in orchestrating Th1‐mediating signals through the differentiation of monocytes into Th1‐inducing Tip‐DCs.
Glucosinolate Synthesis: a Hydroxamic Acid Approach
Authors: Cerniauskaite Deimante , Rousseau Jolanta , Sackus Algirdas , Rollin Patrick , Tatibouët Arnaud 
Published: March 2011

AbstractA new method for accessing the thiohydroximate function allows an alternative synthetic pathway to glucosinolates. O‐Silylated hydroxamic acids were prepared and were then activated with triflic anhydride to generate transient nitrile oxides to be condensed with ethanethiol. The procedure was further applied to the synthesis of naturally occurring glucosinolates.
Novel Tandem Reaction for the Synthesis of N′‐Substituted 2‐Imino‐1,3‐oxazolidines from Vicinal (sec‐ or tert‐)Amino Alcohol of Desosamine
Authors: Vujasinović Ines , Marušić Ištuk Zorica , Kapić Samra , Bukvić Krajačić Mirjana , Hutinec Antun , Đilović Ivica , Matković‐Čalogović Dubravka , Kragol Goran 
Published: March 2011

AbstractTwo one‐pot methods, sequential and tandem, for the preparation of N′‐substituted 2‐imino‐1,3‐oxazolidines from the vicinal (sec‐ or tert)‐amino alcohol of desosamine via intermediary alkyl‐, aryl‐, heteroaryl‐, and heteroalkyl‐thiourea moieties are described. Particularly interesting is the novel one‐pot tandem reaction of the vicinal tert‐amino alcohol that involves dealkylation, thiourea formation, and a final cyclization to yield 2‐imino‐1,3‐oxazolidine structures. The yields of both one‐pot methods are comparable to the yield of the sequential reaction. A small library of a new class of desosamine‐modified 14‐ and 15‐membered macrolides was prepared to demonstrate the variety of substituents that can be easily introduced and thus enable a huge variation of the physicochemical and hence biological properties of these new molecules.
Downstream effects of impounding a natural lake: the Snake River downstream from Jackson Lake Dam, Wyoming, USA
Authors: Erwin Susannah O. , Schmidt John C. , Nelson Nicholas C. 
Published: March 2011

ABSTRACTA sediment mass balance constructed for a 16‐km reach of the Snake River downstream from Jackson Lake Dam (JLD) indicates that river regulation has reduced the magnitude of sediment mass balance deficit that would naturally exist in the absence of the dam. The sediment budget was constructed from calibrated bed load transport relations, which were used to model sediment flux into and through the study reach. Calibration of the transport relations was based on bed load transport data collected over a wide range of flows on the Snake River and its two major tributaries within the study area in 2006 and 2007. Comparison of actual flows with unregulated flows for the period since 1957 shows that operations of JLD have reduced annual peak flows and increased late summer flows. Painted tracer stones placed at five locations during the 2005 spring flood demonstrate that despite the reduction in flood magnitudes, common floods are capable of mobilizing the bed material. The sediment mass balance demonstrates that more sediment exits the study reach than is being supplied by tributaries. However, the volume of sediment exported using estimated unregulated hydrology indicates that the magnitude of the deficit would be greater in the absence of JLD. Calculations suggest that the Snake River was not in equilibrium before construction of JLD, but was naturally in sediment deficit. The conclusion that impoundment lessened a natural sediment deficit condition rather than causing sediment surplus could not have been predicted in the absence of sediment transport data, and highlights the value of transport data and calculation of sediment mass balance in informing dam operations. Copyright © 2011 John Wiley & Sons, Ltd.
Tensions and trade‐offs in voluntary involvement: Evaluating the Collaboratives for Excellence in Teacher Preparation
Authors: Greenseid Lija O. , Lawrenz Frances 
Published: March 2011

AbstractA team at the University of Minnesota conducted the Collaboratives for Excellence in Teacher Preparation (CETP) core evaluation between 1999 and 2004. The purpose of the CETP core evaluation was to achieve consensus among CETP project leaders and project evaluators on evaluation questions; to develop, pilot, and field test evaluation instruments tied to the questions; and to collect data to document the accomplishments of the CETP projects. This chapter examines the relationship between project‐level involvement in the CETP core evaluation and the use of the evaluation by project principal investigators (PIs) and evaluators. The chapter examines the tensions and trade‐offs that arose from attempting to balance voluntary involvement by project PIs and evaluators in the planning and development of the evaluation with the need to collect complete and comparable data across project sites. © Wiley Periodicals Inc., and the American Evaluation Association.
The effect of technical assistance on involvement and use: The case of a Research, Evaluation, and Technical Assistance Project
Authors: Roseland Denise , Volkov Boris B. , Callow‐Heusser Catherine 
Published: March 2011

AbstractIn contrast to typical National Science Foundation program evaluations, the Utah State Math Science Partnership‐Research, Evaluation and Technical Assistance Project (MSP‐RETA) provided technical assistance (TA) in two forms: direct TA for up to 10 projects a year, and professional development sessions for a larger number of project staff. Not surprisingly, the two forms led to different results in terms of involvement and use. Most of those who participated in the direct technical assistance activities were positively affected and sought additional support and development. Project staff who were not included in the direct assistance efforts were more likely to report limited involvement and use. © Wiley Periodicals Inc., and the American Evaluation Association.