bluuebunny/crossref_metadata_2025_split huggingface dataset:
Combined Molecular Genetic and Cytogenetic Analysis from Single Cells after Isothermal Whole-Genome Amplification
Authors: Kroneis Thomas , Geigl Jochen B , El-Heliebi Amin , Auer Martina , Ulz Peter , Schwarzbraun Thomas , Dohr Gottfried , Sedlmayr Peter 
Published: May 2011

BACKGROUNDAnalysis of chromosomal aberrations or single-gene disorders from rare fetal cells circulating in the blood of pregnant women requires verification of the cells' genomic identity. We have developed a method enabling multiple analyses at the single-cell level that combines verification of the genomic identity of microchimeric cells with molecular genetic and cytogenetic diagnosis.METHODSWe used a model system of peripheral blood mononuclear cells spiked with a colon adenocarcinoma cell line and immunofluorescence staining for cytokeratin in combination with DNA staining with the nuclear dye TO-PRO-3 in a preliminary study to define candidate microchimeric (tumor) cells in Cytospin preparations. After laser microdissection, we performed low-volume on-chip isothermal whole-genome amplification (iWGA) of single and pooled cells.RESULTSDNA fingerprint analysis of iWGA aliquots permitted successful identification of all analyzed candidate microchimeric cell preparations (6 samples of pooled cells, 7 samples of single cells). Sequencing of 3 single-nucleotide polymorphisms was successful at the single-cell level for 20 of 32 allelic loci. Metaphase comparative genomic hybridization (mCGH) with iWGA products of single cells showed the gains and losses known to be present in the genomic DNA of the target cells.CONCLUSIONSThis method may be instrumental in cell-based noninvasive prenatal diagnosis. Furthermore, the possibility to perform mCGH with amplified DNA from single cells offers a perspective for the analysis of nonmicrochimeric rare cells exhibiting genomic alterations, such as circulating tumor cells.
Antineuronal autoantibodies in neurological disorders
Authors: Bürk Katrin 
Published: May 2011

AbstractAutoantibodies (abs) related to neurological disease are currently classified into two large groups depending on the site of the respective target antigen: Group I encompasses abs that recognise intracellular antigens (Hu, Yo, Ri, CV2/CRMP5, amphiphysin, Ma2, SOX, ZIC, GAD, adenylate kinase 5, homer 3), whereas group II abs are targeted against neuronal cell membrane antigens (VGKC, AMPA-R, GABAB-R, NMDA-R, Glycine-R, VGCC, metabotropic GluR1). Both abs groups can be further subdivided according to their diagnostic impact for paraneoplastic or non-paraneoplastic neurological disease. The review gives an overview of the common characteristics of each group and provides more detailed information on single abs and the associated clinical syndromes.
It's a loop world – single strands in RNA as structural and functional elements
Authors: Schudoma Christian 
Published: May 2011

AbstractUnpaired regions in RNA molecules – loops – are centrally involved in defining the characteristic three-dimensional (3D) architecture of RNAs and are of high interest in RNA engineering and design. Loops adopt diverse, but specific conformations stabilised by complex tertiary structural interactions that provide structural flexibility to RNA structures that would otherwise not be possible if they only consisted of the rigid A-helical shapes usually formed by canonical base pairing. By participating in sequence-non-local contacts, they furthermore contribute to stabilising the overall fold of RNA molecules. Interactions between RNAs and other nucleic acids, proteins, or small molecules are also generally mediated by RNA loop structures. Therefore, the function of an RNA molecule is generally dependent on its loops. Examples include intermolecular interactions between RNAs as part of the microRNA processing pathways, ribozymatic activity, or riboswitch-ligand interactions. Bioinformatics approaches have been successfully applied to the identification of novel RNA structural motifs including loops, local and global RNA 3D structure prediction, and structural and conformational analysis of RNAs and have contributed to a better understanding of the sequence-structure-function relationships in RNA loops.
Pharmacogenetics of the antiepileptic drugs phenytoin and lamotrigine
Authors: López Marisol , Dorado Pedro , Monroy Nancy , Alonso María Elisa , Jung-Cook Helgi , Machín Esther , Peñas-Lledó Eva , Llerena Adrián 
Published: May 2011

AbstractPatients treated with antiepileptic drugs can exhibit large interindividual variability in clinical efficacy or adverse effects. This could be partially due to genetic variants in genes coding for proteins that function as drug metabolizing enzymes, drug transporters or drug targets. The purpose of this article is to provide an overview of the current knowledge on the pharmacogenetics of two commonly prescribed antiepileptic drugs with similar mechanisms of action; phenytoin (PHT) and lamotrigine (LTG). These two drugs have been selected in order to model the pharmacogenetics of Phase I and Phase II metabolism for PHT and LTG, respectively. In light of the present evidence, patients treated with PHT could benefit fromCYP2C9andCYP2C19genotyping/phenotyping. For those under treatment with LTG,UGT1A4andUGT2B7genotyping might be of clinical use and could contribute to the interindividual variability in LTG concentration to dose ratio in epileptic patients.
Die Suggestion der Theorie – Satzmodus-(In)Kongruenz bei Parenthesen
Authors: Fortmann Christian 
Published: May 2011

Abstract
Parenthetical constructions in German like der Minister des Inneren leidet, (so) sagt man/wie man sagt, an Paranoia are subject to certain restrictions if the host clause is an interrogative and the verb of the reduced parenthetical selects a declarative complement clause: ??wen hat, so glaubt Theo, Franz beleidigt?. According to a quite common conception, a requirement of sentence mood agreement is responsible for the distributional facts. It is the goal of this article to show that this condition fails to account for the facts. Insertion of a parenthetical into an interrogative host is constrained by conditions on reconstruction of the propositional content of the parenthetical's silent complement. In the case of non-agreement, three different types of reduced parentheticals have to be considered in German: verbfirst, so- and wie-parentheticals, which slightly differ with respect to their insertion into an interrogative host. The presuppositon of the interrogative host has to provide for the content of a V1-parenthetical's complement. In so-parentheticals the Adverb so introduces reference to the form of the host, which must be compatible with the canonical form of the verb's complement. wie-parentheticals function as free relative adverbial clauses that constitute a comparative modification of both the host and the parenthetical. Finally, person specification comes into play as an independent factor.
Anmerkungen zur (Un-)Integriertheit von Konditionalsätzen mit Verberststellung
Authors: Pittner Karin 
Published: May 2011

Abstract
Recently, it has been argued that verb-first (V1) conditionals are not, as traditionally assumed, integrated into their matrix clauses, but (quasi-)paratactically adjoined to their host clause (Axel & Wöllstein, German verb-first conditionals as unintegrated clauses. A case study in converging synchronic and diachronic evidence, Mouton de Gruyter, 2009 and Reis & Wöllstein, Zeitschrift für Sprachwissenschaft, 29: 111–179, 2010). As a consequence, the host clause of a left-peripheral V1-conditional clause is considered to be either a V1-declarative sentence or an elliptical V2-declarative sentence. The authors argue with semantic and syntactic properties of V1-clauses and also present diachronic evidence for their views. It is the aim of this paper to take a close look at their arguments in order to show that some do not withstand close scrutiny and that some of the facts presented are at least compatible with other interpretations.
Managing Migrants: Toronto, 1820–1880
Authors: Chilton Lisa 
Published: May 2011

Abstract: Immigration to and through central Canada increased substantially in the middle decades of the nineteenth century. In response to some of the problems associated with this mass migration, and in an effort to stimulate more of the ‘right’ kind of settlement, state-funded immigration agencies were established at all major ports and urban reception centres across the region during this period. To date, most of the literature on this subject has focused upon the state's management of migrants in Lower Canada (at Montreal, Quebec, and Grosse-Île) and upon the response of government officials to the period's major epidemics (cholera and typhus). This article uses Toronto as a case study to trace the evolution of the state's interaction with migrants from a different starting point. It emphasizes the importance of the 1820–80 period – a period in which major state initiatives were put in place to regulate the flow of immigration more effectively. It underlines the fact that the state consisted of multiple, frequently competing layers of authority and power during the period of transition from colonies to nation. Finally, the study of Toronto highlights that the intersections of different state levels (municipal, provincial, imperial, federal) did not constitute an especially monolithic state regulatory response during this period, but rather more of a labyrinth whose changing features could radically affect the individual experiences of migrants during these years.
An Atmosphere of Libération: The Role of Decolonization in the France-Quebec Rapprochement of the 1960s
Authors: Meren David 
Published: May 2011

Abstract: Decolonization's impact was by no means restricted to the Global South. It is impossible to understand developments in the Canada-Quebec-France triangle in the 1960s without referring to the discourse, ideas, and examples of anti-colonial resistance that marked international life after the Second World War. In addition to influencing the postwar development of France and Quebec, the decolonization phenomenon figured prominently in the process of rapprochement that developed between them in the post-1945 period. After discussing the global reach of decolonization, this article examines its impact on the Canada-Quebec-France triangle. Particular attention is paid to its intellectual and political consequences, notably the ‘Quebec as colony’ metaphor and the reimagining of France as a champion of decolonization. The intersection between these two ideas was crucial to the evolution of the France–Quebec relationship.
Use of Headings and Classifications by Physicians in Medical Narratives of EHRs
Authors: Harno K. , Nykänen P. , Häyrinen K. 
Published: May 2011

Summary
Objective: The purpose of this study was to describe and evaluate patient care documentation by hospital physicians in EHRs and especially the use of national headings and classifications in these documentations Material and Methods: The initial material consisted of a random sample of 3,481 medical narratives documented in EHRs during the period 2004-2005 in one department of a Finnish central hospital. The final material comprised a subset of 1,974 medical records with a focus on consultation requests and consultation responses by two specialist groups from 871 patients. This electronic documentation was analyzed using deductive content analyses and descriptive statistics.
Results: The physicians documented patient care in EHRs principally as narrative text. The medical narratives recorded by specialists were structured with headings in less than half of the patient cases. Consultation responses in general were more often structured with headings than consultation requests. The use of classifications was otherwise insignificant, but diagnoses were documented as ICD 10 codes in over 50% of consultation responses by both medical specialties.
Conclusion: There is an obvious need to improve the structuring of narrative text with national headings and classifications. According to the findings of this study, reason for care, patient history, health status, follow-up care plan and diagnosis are meaningful headings in physicians’ documentation. The existing list of headings needs to be analyzed within a consistent unified terminology system as a basis for further development. Adhering to headings and classifications in EHR documentation enables patient data to be shared and aggregated. The secondary use of data is expected to improve care management and quality of care.
Avaliação funcional e postural nas distrofias musculares de Duchenne e Becker
Authors: Okama Larissa O. , Queiroz Paula D. , Spina Lucas R. , Miranda Mariana B.L. , Curtarelli Monica B. , Faria Júnior Milton , Souza Luciane A. P. Sande de 
Published: May 2011

Objetivo: O objetivo foi avaliar portadores de distrofia muscular de Duchenne (DMD) e Becker (DMB) por meio de escalas e análise postural. Metodologia: Foram avaliados 13 pacientes, idade 16,75 (± 6,9) sendo 9 DMD, 4 DMB, 7 cadeirantes, 6 não cadeirantes, nas escalas: Índice de Barthel e EK (Egen klassifikation). A avaliação postural sentada foi feita no software SAPO. Resultados: Os dados revelam que: aumento da idade (p0.01), dependência de cadeira de rodas (p0.01) e uso de ventilador (p0.01) indicaram menor independência. Na avaliação postural tanto dos não cadeirantes quanto dos cadeirantes, verificou-se que aumentam os agrupamentos nos cadeirantes, remetendo às limitações impostas pela postura. Conclusão: Esses achados mostram que pacientes com DMD e DMB têm sua funcionalidade e atividades de vida diária debilitadas com o avanço da idade, dependência de cadeira de rodas e uso de ventilador. Assim, associação de escalas com avaliações convencionais e análise postural são ferramentas essenciais para a investigação.
Qualidade de vida e intensidade de dor em portadores de osteoporose
Authors: Barros Igor Andrade , Oréfice José Luis Feltrin , Oréfice Rosalbina Santiago Rubint , Reis Filipe Abdalla dos 
Published: May 2011

Objetivos: Avaliar a qualidade de vida (QV) e a intensidade da dor em sujeitos portadores de osteoporose. Métodos: Foram avaliados, por meio do questionário MOS SF-36 e Escala Visual Analógica de dor (EVA), doze sujeitos portadores de osteoporose. Para as variáveis descritas pelo questionário em relação à intensidade de dor, com nível de significância estabelecido em p0,05 foi utilizado o teste de correlação linear de Pearson. Resultados: Nos cruzamentos entre a EVA e os domínios do MOS SF-36, pode-se observar significância estatística para o estado geral de saúde, vitalidade e aspectos sociais. Observou-se baixo índice para a intensidade de dor (3,1) e escore médio de 42 com classificação em boa QV. Conclusão: A QV dos portadores de osteoporose está classificada em boa e muito boa, e os entrevistados apresentaram uma intensidade de dor considerada baixa, sugestivo de não interferir na QV da população avaliada.
Fundamental Theory of Piezotronics
Authors: Zhang Yan , Liu Ying , Wang Zhong Lin 
Published: May 2011

AbstractDue to polarization of ions in crystals with noncentral symmetry, such as ZnO, GaN, and InN, a piezoelectric potential (piezopotential) is created in the crystal when stress is applied. Electronics fabricated using the inner‐crystal piezopotential as a gate voltage to tune or control the charge transport behavior across a metal/semiconductor interface or a p–n junction are called piezotronics. This is different from the basic design of complimentary metal oxide semiconductor (CMOS) field‐effect transistors and has applications in force and pressure triggered or controlled electronic devices, sensors, microelectromechanical systems (MEMS), human‐computer interfacing, nanorobotics, and touch‐pad technologies. Here, the theory of charge transport in piezotronic devices is investigated. In addition to presenting the formal theoretical frame work, analytical solutions are presented for cases including metal–semiconductor contact and p–n junctions under simplified conditions. Numerical calculations are given for predicting the current–voltage characteristics of a general piezotronic transistor: metal–ZnO nanowire–metal device. This study provides important insight into the working principles and characteristics of piezotronic devices, as well as providing guidance for device design.
An ontological representation of the digital library evaluation domain
Authors: Tsakonas Giannis , Papatheodorou Christos 
Published: May 2011

AbstractDigital library evaluation is a complex field, as complex as the phenomena it studies. The interest of the digital library society still remains vibrant after all these years of solidification, as these systems have entered real‐life applications. However the community has still to reach a consensus on what evaluation is and how it can effectively be planned. In the present article, an ontology of the digital library evaluation domain, named DiLEO, is proposed, aiming to reveal explicitly the main concepts of this domain and their correlations, and it tries to combine creatively and integrate several scientific paradigms, approaches, methods, techniques, and tools. This article demonstrates the added value features of the ontology, which are the support of comparative studies between different evaluation initiatives and the assistance in effective digital library evaluation planning.
Notch signaling in cardiac valve development and disease
Authors: MacGrogan Donal , Luna‐Zurita Luis , de la Pompa José Luis 
Published: May 2011

AbstractThe Notch pathway is an intercellular signaling mechanism involved in multiple cell‐to‐cell communication processes that regulate cell fate specification, differentiation, and tissue patterning during embryogenesis and adulthood. Functional studies in the mouse have shown that a Hey‐Bmp2 regulatory circuit restricts Bmp2 expression to presumptive valve myocardium (atrioventricular canal and outflow tract). Likewise, a Notch‐Hey‐Bmp2 axis represses Bmp2 in the endocardium. During cardiac valve formation, endocardial Notch signaling activates the epithelial‐mesenchyme transition (EMT) that will give rise to the cardiac valve primordia. During this process, Notch integrates with myocardially derived signals (Bmp2 or Bmp4) to promote, via Snail1/2 activation a complete, invasive EMT in presumptive valve tissue. In humans, mutations in Notch signaling components are associated with several congenital disorders involving malformed valves, aortic arch, and defective chamber septation. Data suggest that the same embryonic Notch‐Hey‐Bmp2 regulatory axis is active in the adult valve. This review examines the experimental evidence supporting a role for Notch in heart valve development and homeostasis, and how altered Notch signaling may lead to valve disease in the newborn and adult. Birth Defects Research (Part A) 2011. © 2011 Wiley‐Liss, Inc.
One‐Step Preparation of Efficient and Reusable SO42−/ZrO2‐Based Hybrid Solid Catalysts Functionalized by Alkyl‐Bridged Organosilica Moieties for Biodiesel Production
Authors: Li Wei , Ma Fengyan , Su Fang , Ma Ling , Zhang Shengqu , Guo Yihang 
Published: May 2011

AbstractA series of mesoporous sulfated zirconia materials functionalized by alkyl‐bridged organosilica moieties (SO42−/ZrO2SiO2(R) with various S/Si or Zr/Si molar ratios and R=CH2CH2 or C6H4) were developed by a one‐step co‐condensation technique combined with hydrothermal treatment with the aid of a triblock copolymer surfactant (P123). The structures, morphologies, porosities, and acid properties of the materials were well characterized. Subsequently, the catalytic performances (activity and stability) of SO42−/ZrO2SiO2(R) were evaluated by the transesterification of both pure triglyceride (tripalmitin) and low‐cost virgin plant oil (Eruca sativa Gars. oil) with methanol for biodiesel production under mild conditions (atmospheric pressure, 65 °C), and the enhanced catalytic activity with respect to alkyl‐free sulfated zirconia was obtained. This excellent catalytic activity was explained in terms of the inherent Brønsted acidity, well‐defined mesoporosity, and increased hydrophobicity of the as‐prepared, hybrid, solid acid catalyst.
Hepatic epithelioid angiomyolipoma with trabecular growth pattern: A mimic of hepatocellular carcinoma on fine needle aspiration cytology
Authors: Xie Linjun , Jessurun Jose , Manivel J. Carlos , Pambuccian Stefan E. 
Published: May 2011

AbstractEpithelioid angiomyolipomas (AMLs) of the liver are rare tumors with imaging and cytologic features overlapping with those of hepatocellular carcinomas. We report the fine needle aspiration and core biopsy findings of an epithelioid AML in the right hepatic lobe of a 32‐year‐old female with tuberous sclerosis. She had undergone renal transplantation 8 years previously after bilateral nephrectomy for renal AMLs and a 3‐cm chromophobe renal cell carcinoma. Hepatocellular carcinoma was suspected during the initial cytologic and histologic examination based on the presence of numerous large polygonal cells with ample finely vacuolated or granular cytoplasm, low nucleocytoplasmic ratio, and mild nuclear pleomorphism in the smears, as well as a distinctive trabecular histologic pattern in the core biopsies. Immunoperoxidase stains showed that the neoplastic cells were negative for cytokeratins and positive for HMB45, Melan‐A, and smooth muscle actin, establishing the diagnosis of epithelioid AML. To determine the distinguishing cytomorphologic features between epithelioid AML and HCC, we have compared the cytologic features of 15 cases of hepatic AML reported in the literature, including the present case, to the FNA cytologic findings of 38 consecutive cases of HCC diagnosed at out institution. Diagn. Cytopathol. 2012.
© 2011 Wiley Periodicals, Inc.
The “drunken honeycomb” feature of pulmonary mucinous adenocarcinoma: A diagnostic pitfall of bronchial brushing cytology
Authors: Morency Elizabeth , Rodriguez Urrego Paula A. , Szporn Arnold H. , Beth Beasley Mary , Chen Hua 
Published: May 2011

AbstractPulmonary mucinous adenocarcinoma (PMA) is the terminology recently proposed in the new International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society (IASLC/ATS/ERS) International Multidisciplinary Classification of Lung Adenocarcinoma Guidelines for most tumors previously classified as mucinous bronchioloalveolar carcinomas (mBACs). PMA is histologically characterized by lepidic growth and at least some degree of invasive growth of goblet or columnar neoplastic cells with abundant intracytoplasmic mucin. We report here the cytologic features of PMA in a bronchial brushing specimen. The patient is an 84‐year‐old woman with a persistent dense consolidation in the right middle lobe of the lung found on non‐contrast computed tomography (CT) scan. Bronchial brushing smears showed a monotonous population of columnar neoplastic cells forming “drunken honeycomb”‐like cell clusters. The neoplastic cells displayed inconspicuous cytologic atypia. The concurrent transbronchial tissue biopsy and the resection specimen confirmed the diagnosis of PMA. Due to the bland nuclear features, the neoplastic cells in the bronchial brushing specimen were interpreted as benign at the time of the initial diagnosis, demonstrating a diagnostic pitfall of bronchial brushing cytology. A high index of suspicion is recommended when a lung lesion with “drunken honeycomb”‐like cell clusters is encountered in bronchial brushing specimens. The review of the literature regarding the recently designated PMA is presented. Diagn. Cytopathol. 2013. © 2011 Wiley Periodicals, Inc.