bluuebunny/crossref_metadata_2025_split huggingface dataset:
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
Authors: Barresi Vincenza , Ragusa Angela , Fichera Marco , Musso Nicolò , Castiglia Lucia , Rappazzo Giancarlo , Travali Salvatore , Mattina Teresa , Romano Corrado , Cocchi Guido , Condorelli Daniele F 
Published: August 2010

Abstract

Background
ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. The disease is caused by mutations in ATRX gene, which encodes a protein belonging to the SWI/SNF DNA helicase family, a group of proteins involved in the regulation of gene transcription at the chromatin level. In order to identify specific genes involved in the pathogenesis of the disease, we compared, by cDNA microarray, the expression levels of approximately 8500 transcripts between ATRX and normal males of comparable age.

Methods
cDNA microarray was performed using total RNA from peripheral blood mononuclear cells of ATRX and normal males. Microarray results were validated by quantitative real-time polymerase chain reaction.

Results
cDNA microarray analysis showed that 35 genes had a lower expression (30-35% of controls) while 25 transcripts had a two-fold higher expression in comparison to controls. In the microarray results the probe for oligophrenin-1, a gene known for its involvement in mental retardation, showed a decreased hybridization signal. However, such gene was poorly expressed in blood mononuclear cells and its decrease was not confirmed in the quantitative real-time RT-PCR assay. On the other hand, the expression of an homologous gene, the GTPase regulator associated with the focal adhesion kinase 1/Oligophrenin-1-like (GRAF1/OPHN-1-L), was relatively high in blood mononuclear cells and significantly decreased in ATRX patients. The analysis of the expression pattern of the GRAF1/OPHN-1-L gene in human tissues and organs revealed the predominant brain expression of a novel splicing isoform, called variant-3.

Conclusions
Our data support the hypothesis of a primary role for altered gene expression in ATRX syndrome and suggest that the GRAF1/OPHN-1-L gene might be involved in the pathogenesis of the mental retardation. Moreover a novel alternative splicing transcript of such gene, predominantly expressed in brain tissues, was identified.
Detection and prevalence of Anaplasma phagocytophilum and Rickettsia helvetica in Ixodes ricinus ticks in seven study areas in Sweden
Authors: Severinsson Kristofer , Jaenson Thomas G , Pettersson John , Falk Kerstin , Nilsson Kenneth 
Published: August 2010

Abstract

Background
Tick-borne Anaplasma phagocytophilum and Rickettsia spp. are considered to be emerging human pathogens, but only limited data are available on their occurrence in Sweden. Two real-time PCR assays followed by nested PCR and sequence analysis were carried out to investigate the prevalence of A. phagocytophilum and spotted fever rickettsiae in ticks from seven areas in Sweden.

Results
In 139 pooled samples, representing a total of 1245 Ixodes ricinus ticks (204 larvae, 963 nymphs, 38 males, 40 females), the overall positive mean infection prevalence was 1.3-15.0% for A. phagocytophilum and 1.5-17.3% for R. helvetica. A. phagocytophilum was only detected in nymphs (1.7-19.4%), whereas R. helvetica was detected in all three tick stages. Support for vertical and transstadial transmission was only obtained for R. helvetica. Both agents showed similar infection rates across study areas, although infection rates were greater in coastal areas.

Conclusions
The results show that both pathogens occurred in all seven locations, indicating that they are prevalent in Sweden and should be considered etiological agents in patients recently bitten by ticks.
Pancytopenia associated with clonazepam
Authors: Bautista-Quach Marnelli A , Liao Yu-Min , Hsueh Chung-Tsen 
Published: August 2010

Abstract
We report a case of a 48-year-old Chinese female with end-stage renal disease and chronic anemia on hemodialysis. Clonazepam was prescribed for myoclonus disorder two weeks prior to her hospitalization. Subsequently, she was hospitalized for neutropenic fever with thrombocytopenia and worsening anemia. Bone marrow examination demonstrated a markedly hypocellular marrow (10-20% total cellularity). Clonazepam was discontinued, with gradual improvement of thrombocytopenia, and neutropenia in 1-2 weeks. To our knowledge, this is the first reported case of pancytopenia associated with clonazepam. We recommend patients taking clonazepam to be monitored with regular complete blood count to check for clinically significant pancytopenia or thrombocytopenia.
Helicobacter pylori CagA inhibits endocytosis of cytotoxin VacA in host cells
Authors: Akada Junko K. , Aoki Hiroki , Torigoe Yuji , Kitagawa Takao , Kurazono Hisao , Hoshida Hisashi , Nishikawa Jun , Terai Shuji , Matsuzaki Masunori , Hirayama Toshiya , Nakazawa Teruko , Akada Rinji , Nakamura Kazuyuki 
Published: August 2010

SUMMARY
Helicobacter pylori, a common pathogen that causes chronic gastritis and cancer, has evolved to establish persistent infections in the human stomach. Epidemiological evidence suggests that H. pylori with both highly active vacuolating cytotoxin A (VacA) and cytotoxin-associated gene A (CagA), the major virulence factors, has an advantage in adapting to the host environment. However, the mechanistic relationship between VacA and CagA remains obscure. Here, we report that CagA interferes with eukaryotic endocytosis, as revealed by genome-wide screening in yeast. Moreover, CagA suppresses pinocytic endocytosis and the cytotoxicity of VacA in gastric epithelial cells without affecting clathrin-dependent endocytosis. Our data suggest that H. pylori secretes VacA to attack distant host cells while injecting CagA into the gastric epithelial cells to which the bacteria are directly attached, thereby protecting these attached host cells from the cytotoxicity of VacA and creating a local ecological niche. This mechanism might allow H. pylori to balance damage to one population of host cells with the preservation of another, allowing for persistent infection.
Are Net FDI Flows and Reversals of Capital Flows a Result of Output Growth?
Authors: Aharonovitz Gilad D , Miller James D 
Published: August 2010

Abstract
Literature notes many factors as affecting capital flows, but the effects of these flows over the recipient economies and the overall effect over growth are highly debatable. This study claims that although capital flows may be required for the increase in output, other forces are causing this growth and creating the demand for capital. We construct a model in which growth requires both decisions of firms regarding training of managers in order to expand, representing the absorption capacity of the firms, and capital for the firms expansion. The model shows that in early stages of development when output is low, capital inflows are increasing with an increase in the output, but are not the cause for the output growth. However, when output is higher, an increase in the output is associated with financial outflows since the local savings are increasing by more than the local demand for capital. Although we cannot empirically test the model, we use cross-country regressions to show that capital flows are in-line with the predictions of the model and manage to explain half of the variations in net FDI flows per capita using the stage of development. Many policies regarding capital flows may be, therefore, irrelevant.
Nuclear Magnetic Resonance Lipoprotein Subclasses and the APOE Genotype Influence Carotid Atherosclerosis in Patients with Systemic Lupus Erythematosus
Authors: GONZÀLEZ MARTA , RIBALTA JOSEP , VIVES GLÒRIA , IFTIMIE SIMONA , FERRÉ RAIMÓN , PLANA NÚRIA , GUARDIOLA MONTSE , DALLINGA-THIE GEESJE , MASANA LLUÍS , CASTRO ANTONI 
Published: August 2010

Objective.Patients with systemic lupus erythematosus (SLE) have accelerated atherosclerosis. Since the conventional lipid profile (total plasma cholesterol, triglycerides, low and high density lipoprotein cholesterol) is not consistently altered in SLE, we hypothesized that investigation of lipoprotein subclasses would improve prediction of risk of atherosclerosis in these patients.Methods.As a quantitative index of atherosclerosis, we measured the carotid intima-media thickness (IMT) in 68 patients with SLE and related the atherosclerosis to a detailed lipoprotein profile generated using nuclear magnetic resonance (NMR). We measured the cholesterol transported by the pool of remnant lipoproteins (RLPc) and evaluated the modulatory effect of the APOE genotype on the lipoprotein subclass profile and atherosclerosis associated with SLE.Results.Circulating lipoprotein remnant particles [RLPc and intermediate density lipoprotein (IDL)] were positively correlated with IMT, and among them, the indicator that explained 20.2% of the variability in carotid atherosclerosis measured in these patients was IDL, as assessed by NMR. Carriers of the APOE2 allele were at increased risk due to a significant accumulation of IDL particles.Conclusion.Lipoprotein subclasses are more associated with subclinical atherosclerosis in patients with SLE than the lipid variables that are routinely measured. The IDL fraction, which is significantly modulated by the APOE genotype, is the most strongly, significantly, and positively correlated with IMT.
Mortality in Psoriatic Arthritis – A Single-center Study from the UK
Authors: BUCKLEY CAITRIONA , CAVILL CHARLOTTE , TAYLOR GORDON , KAY HAZEL , WALDRON NICOLA , KORENDOWYCH ELEANOR , McHUGH NEIL 
Published: August 2010

Objective.To determine whether the mortality in a cohort of patients with psoriatic arthritis (PsA) from a single center in the UK is significantly different from the general UK population.Methods.Patients who were entered onto the PsA database at the Royal National Hospital for Rheumatic Diseases, Bath, between 1985 and 2007 were included in this study. Information on patient deaths was collected retrospectively. The National Health Service (NHS) Strategic Tracing Service was used to establish which patients were alive and which had died. Date and cause of death were confirmed by death certificates from the Registry of Births, Marriages and Deaths. A standardized mortality ratio (SMR) was calculated by matching the patient data to single-year, 5-year age-banded England and Wales data from the Office of National Statistics.Results.In this cohort of 453 patients with PsA (232 men, 221 women), there were 37 deaths. Sixteen men and 21 women died. The SMR for the men was 67.87% (95% CI 38.79, 110.22), and for the women, 97.01% (95% CI 60.05, 148.92) and the overall SMR for the PsA cohort was 81.82% (95% CI 57.61, 112.78). The leading causes of death in this cohort were cardiovascular disease (38%), diseases of the respiratory system (27%), and malignancy (14%).Conclusion.These results suggest that mortality in our single-center PsA cohort is not significantly different from the general UK population. No increased risk of death was observed in this cohort.
Rien n'est jamais acquis
Authors: Lécuyer Roger 
Published: August 2010

RÉSUMÉ La psychologie du nourrisson a été marquée dans les années 1960 à 1990 par la production d’un grand nombre de faits nouveaux, lesquels ont suscité pendant longtemps plus de réactions admiratives ou sceptiques que de discussions théoriques. La situation est semble-t-il en train de changer puisque deux revues anglophones viennent de publier une série de points de vue sur les connaissances actuelles en psychologie du nourrisson, dans lesquelles une polémique très vive s’instaure. Il s’agit d’une contestation, parfois radicale, du nativisme et d’une opposition entre nativisme et empirisme, mais il s’agit aussi d’une discussion sur l’interprétation des données dans les expériences faites avec les bébés : aux interprétations en termes cognitifs (en particulier la permanence précoce de l’objet) sont opposées des interprétations jugées par leurs auteurs comme plus conformes au principe de parcimonie. Ces débats, dans lesquels sont impliqués des acteurs choisis parmi les principaux dans la recherche sur le bébé aux États-Unis d’Amérique, sont synthétisés dans le présent article et confrontés aux positions théoriques de son auteur.
Le développement de la langue des signes américaine
Authors: Schick Brenda 
Published: August 2010

RÉSUMÉ Les études sur le développement des langues signées ont montré qu’elles sont acquises comme les langues orales. On sait maintenant que les enfants babillent en langue des signes, font des erreurs phonologiques, des omissions dans leurs premières phrases, en parallèle avec l’acquisition de la langue orale. Il apparaît également que certains aspects des langues signées qui semblent transparents et devraient donc être appris facilement sont en fait acquis sur une longue durée. Les aspects de la grammaire signée relatifs au visage se développent plus tardivement que ceux relatifs aux mains. Les éléments de la grammaire qui sont fortement iconiques se développent sur une période étonnamment longue, indiquant que la transparence n’implique pas une acquisition aisée. In fine, le développement du langage signé offre une perspective différente sur la façon dont on parvient à acquérir le langage quelle que soit la modalité.
Comprendre et utiliser les bases cognitives de l'apprentissage chez les enfants sourds
Authors: Marschark Marc 
Published: August 2010

RÉSUMÉ L’éducation des enfants sourds a subi beaucoup de changements depuis vingt-cinq ans, mais pour quels progrès ? Les sourds ont toujours un niveau de lecture intolérablement bas, et les aptitudes langagières et de résolution de problème qu’ils acquièrent manquent souvent de la flexibilité nécessaire au succès académique et à l’apprentissage tout au long de la vie. On avance dans cet article que nous avons échoué à reconnaître que les enfants sourds apprennent différemment des enfants entendants, et pourraient ainsi avoir gaspillé des ressources et opportunités. Nous sommes maintenant au seuil d’un progrès significatif à l’amélioration de l’éducation des enfants sourds. Cela va nécessiter une soigneuse considération des bases cognitives à l’apprentissage et aux interventions éducatives, ainsi qu’aux façons dont elles interagissent avec le développement social et langagier. L’utilisation de cette information nécessitera aussi la collaboration entre chercheurs et praticiens, ainsi qu’une communication claire et objective avec les parents d’enfants sourds.
Transition de l'alimentation passive à l'alimentation active chez le bébé prématuré
Authors: Pfister Riccardo , Launoy V. , Vassant C. , Martinet M. , Picard C. , Bianchi J.E. , Berner M. , Bullinger André 
Published: August 2010

RÉSUMÉ La recherche présentée s’est déroulée en trois phases. Une première recherche rétrospective a permis de constituer une population de référence composée de 18 enfants prématurés et qui bénéficient des soins usuels du service de néonatologie. Cette étude rétrospective analyse la durée et la forme de la transition entre une alimentation complètement passive (par sonde) et une alimentation entièrement active au sein ou au biberon. La CPAP influence cette évolution. Le deuxième groupe d’enfants prématurés (N = 24) a bénéficié d’une mise en forme en enroulement lors du nourrissement et d’un programme qui règle les quantités offertes en actif et en passif. L’effet de la CPAP est évalué. Le troisième groupe (N = 25) a bénéficié d’une mise en forme en enroulement lors du nourrissement, du même programme de transition mais en plus une stimulation périorale et orale est appliquée. L’effet de la CPAP est évalué. Dans les trois groupes, les mêmes analyses ont été réalisées. On montre un raccourcissement significatif et une homogénéisation des temps de transition. La CPAP nasale, si elle est présente plus de sept jours, a un effet négatif significatif, mais les stimulations périorales compensent cet effet délétère. De façon indépendante de l’âge de gestation, la vitesse d’ingestion montre que 90 % de ce que l’enfant est capable de prendre activement est absorbé durant les premières dix minutes. Ce fait permet d’adapter la gestion des repas : durée de l’alimentation passive et durée de l’offre du biberon ou du sein.
Reconnaissance des émotions et évaluation de la douleur chez des enfants et adolescents porteurs de Trisomie 21
Authors: Zabalia Marc , Corfec Sonia 
Published: August 2010

RÉSUMÉ Cette étude interroge les capacités à reconnaître des émotions et à évaluer la douleur d’enfants et d’adolescents porteurs de Trisomie 21. Une situation d’évaluation de la douleur de personnages présentés sur des vignettes et une tâche de reconnaissance d’émotions présentées sur photographies sont proposées à 18 enfants et adolescents porteurs de Trisomie 21 comparés à 20 enfants typiques. Les résultats montrent que les sujets de l’étude sont en mesure d’identifier des émotions et qu’ils utilisent de façon adaptée l’échelle des visages plutôt que l’échelle visuelle analogique pour évaluer la douleur. Le potentiel de compétences manifesté par les enfants et adolescents porteurs de Trisomie 21 devrait favoriser l’utilisation clinique des outils d’auto-évaluation de la douleur chez les sujets atteints de déficience intellectuelle et de difficultés d’adaptation sociale.
Knowledge Management Systems
Authors: Maier Ronald , Hadrich Thomas 
Published: August 2010

Knowledge management systems (KMSs) are seen as enabling technologies for an effective and efficient knowledge management (KM). However, up to date the term knowledge management system has often been used ambiguously. Examples are its use for specific KM tools, for KM platforms, or for (a combination of) tools that are applied with KM in mind. So far, investigations about the notion of KMS remain on the abstract level of what a KMS is used for, for example, “a class of information systems applied to managing organizational knowledge” (Alavi & Leidner, 2001, p. 114). The following two sections define the term KMS and obtain a set of characteristics that differentiates KMS from traditional information systems, such as intranet infrastructures, document- and content-management systems, groupware, or e-learning systems. Then, two ideal architectures for KMS are contrasted. It is discussed which KMS architecture fits what type of KM initiatives, and some empirical findings on the state of practice of KMS are summarized. The last sections give an outlook on future trends and conclude the article.
Luminescent Carbon Nanodots: Emergent Nanolights
Authors: Baker Sheila N. , Baker Gary A. 
Published: August 2010

AbstractSimilar to its popular older cousins the fullerene, the carbon nanotube, and graphene, the latest form of nanocarbon, the carbon nanodot, is inspiring intensive research efforts in its own right. These surface‐passivated carbonaceous quantum dots, so‐called C‐dots, combine several favorable attributes of traditional semiconductor‐based quantum dots (namely, size‐ and wavelength‐dependent luminescence emission, resistance to photobleaching, ease of bioconjugation) without incurring the burden of intrinsic toxicity or elemental scarcity and without the need for stringent, intricate, tedious, costly, or inefficient preparation steps. C‐dots can be produced inexpensively and on a large scale (frequently using a one‐step pathway and potentially from biomass waste‐derived sources) by many approaches, ranging from simple candle burning to in situ dehydration reactions to laser ablation methods. In this Review, we summarize recent advances in the synthesis and characterization of C‐dots. We also speculate on their future and discuss potential developments for their use in energy conversion/storage, bioimaging, drug delivery, sensors, diagnostics, and composites.
Uptake of a cell permeable G7‐18NATE construct into cells and binding with the Grb7‐SH2 domain
Authors: Ambaye Nigus D. , Lim Reece C. C. , Clayton Daniel J. , Gunzburg Menachem J. , Price John T. , Pero Stephanie C. , Krag David N. , Wilce Matthew C. J. , Aguilar Marie‐Isabel , Perlmutter Patrick , Wilce Jacqueline A. 
Published: August 2010

AbstractGrb7 is an adapter protein found to be overexpressed in several breast and other cancer cell types along with ErbB2. Grb7 is normally an interaction partner with focal adhesion kinase and in cancer cells also aberrantly interacts with ErbB2. It is thus implicated in the migratory and proliferative potential of cancer cells. Previous studies have shown that the phage display‐derived cyclic nonphosphorylated inhibitor peptide, G7‐18NATE, when linked to Penetratin©, is able to interfere with the interaction of Grb7 with its upstream binding partners and to impact on both cell migration and proliferation. Here we report the synthesis of a biotinylated G7‐18NATE covalently attached to just the last seven residues of Penetratin© (G7‐18NATE‐P‐Biotin). We demonstrate that this construct is taken up efficiently into MDA‐MB‐468 breast cancer cells and colocalizes with Grb7 in the cytoplasm. We also used isothermal titration calorimetry to determine the binding affinity of G7‐18NATE‐P‐Biotin to the Grb7‐SH2 domain, and showed that it binds with micromolar affinity (K
d = 14.4 μM), similar to the affinity of G7‐18NATE (K
d = 35.4 μM). Together this shows that this shorter G7‐18NATE‐P‐Biotin construct is suitable for further studies of the antiproliferative and antimigratory potential of this inhibitor. © 2010 Wiley Periodicals, Inc. Biopolymers (Pept Sci) 96: 181–188, 2011.
ChemInform Abstract: Core‐Level Spectroscopy of the Tetravalent Lanthanide Compounds M3LnF7 (with M: Cs, Rb; Ln: Ce, Pr, Nd, Tb, Dy).
Authors: HU Z. , KAINDL G. , MUELLER B. G. 
Published: August 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Pressure and Temperature Dependence of the Eu Valence in EuNi2Ge2 and Related Systems Studied by Moessbauer Effect, X‐Ray Absorption, and X‐ Ray Diffraction.
Authors: HESSE H.‐J. , LUEBBERS R. , WINZENICK M. , NEULING H. W. , WORTMANN G. 
Published: August 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Optical Characteristics of Y3BO6 Activated by Eu3+.
Authors: CHADEYRON G. , MAHIOU R. , ARBUS A. , COUSSEINS J. C. 
Published: August 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Phosphoranediyl‐1,3,5‐triphosphinanes/Phosphonio‐1,3,5‐triphosphinine Cations.
Authors: SCHROEDEL H.‐P. , SCHMIDPETER A. 
Published: August 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Organic Synthesis Planning: Some Hints from Similarity
Authors: SELLO G. , TERMINI M. 
Published: August 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.