bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations
Authors: Grossi Serena , Regis Stefano , Biancheri Roberta , Mort Matthew , Lualdi Susanna , Bertini Enrico , Uziel Graziella , Boespflug-Tanguy Odile , Simonati Alessandro , Corsolini Fabio , Demir Ercan , Marchiani Valentina , Percesepe Antonio , Stanzial Franco , Rossi Andrea , Vaurs-Barrière Catherine , Cooper David N , Filocamo Mirella 
Published: June 2011

Abstract

Background
The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked PLP1 gene encoding myelin proteolipid protein (PLP). PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesions present in 15-20% of patients.

Methods
Forty-eight male patients from 38 unrelated families with a PLP1-related disorder were studied. All DNA samples were screened for PLP1 gene duplications using real-time PCR. PLP1 gene sequencing analysis was performed on patients negative for the duplication. The mutational status of all 14 potential carrier mothers of the familial PLP1 gene mutation was determined as well as 15/24 potential carrier mothers of the PLP1 duplication.

Results and Conclusions

PLP1 gene duplications were identified in 24 of the unrelated patients whereas a variety of intragenic PLP1 mutations were found in the remaining 14 patients. Of the 14 different intragenic lesions, 11 were novel; these included one nonsense and 7 missense mutations, a 657-bp deletion, a microdeletion and a microduplication. The functional significance of the novel PLP1 missense mutations, all occurring at evolutionarily conserved residues, was analysed by the MutPred tool whereas their potential effect on splicing was ascertained using the Skippy algorithm and a neural network. Although MutPred predicted that all 7 novel missense mutations would be likely to be deleterious, in silico analysis indicated that four of them (p.Leu146Val, p.Leu159Pro, p.Thr230Ile, p.Ala247Asp) might cause exon skipping by altering exonic splicing elements. These predictions were then investigated in vitro for both p.Leu146Val and p.Thr230Ile by means of RNA or minigene studies and were subsequently confirmed in the case of p.Leu146Val. Peripheral neuropathy was noted in four patients harbouring intragenic mutations that altered RNA processing, but was absent from all PLP1-duplication patients. Unprecedentedly, family studies revealed the de novo occurrence of the PLP1 duplication at a frequency of 20%.
Field evaluation of the intermittent preventive treatment of malaria during pregnancy (IPTp) in Benin: evolution of the coverage rate since its implementation
Authors: d'Almeida Tania CDA , Agboton-Zoumenou Marie-Agnès , Garcia André , Massougbodji Achille , Briand Valérie , Imorou Yacoubou , Cottrell Gilles 
Published: June 2011

Abstract

Background
Malaria is an important public health problem in Africa. Pregnant women are a vulnerable population and this disease can underlie an increased risk of low-birth weight newborns (< 2500 g); these women therefore need management during pregnancy. This was previously provided by chloroquine treatment, which, because of compliance problems and drug resistance, was replaced by intermittent preventive treatment with sulfadoxine-pyrimethamine (ITPp-SP) with two single doses taken after 16 weeks of amenorrhea, at least 4 weeks apart. This protocol was recommended by the World Health Organization (WHO) in 1998 and was initiated in Benin in 2006 after its political adoption in 2004.
A retrospective longitudinal study was conducted in eight maternity hospitals in two geographical areas in Benin (in the south and north). The study investigated 2420 women who gave birth from 2005 to 2009. The antenatal cards of those women were randomly selected over 5 years with the aim of analyzing the IPT coverage in the study's maternity hospitals.

Results
The rate of IPT-SP coverage evolved from 3.7% in 2005 to 87.8% in 2009 for women who had received at least one dose and from 2.7% to 68.4% from 2005 to 2009 for those who had received complete ITP (two doses). Variability in the results was observed depending on the geographical area (north/south) and the type of area (rural/urban).

Conclusions
In total, application of IPT-SP 2-doses has rapidly evolved since 2005, but the objective of 80% IPT coverage has not yet been achieved throughout the country. Moreover, problems of drug shortage recurring in the field (reported by health staff) remain to be resolved.
Abnormal networks of immune response-related molecules in bone marrow cells from patients with rheumatoid arthritis as revealed by DNA microarray analysis
Authors: Lee Hooi-Ming , Sugino Hidehiko , Aoki Chieko , Shimaoka Yasunori , Suzuki Ryuji , Ochi Kensuke , Ochi Takahiro , Nishimoto Norihiro 
Published: June 2011

Abstract
Introduction
Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by chronic synovitis that progresses to destruction of cartilage and bone. Bone marrow (BM) cells have been shown to contribute to this pathogenesis. In this study, we compared differentially expressed molecules in BM cells from RA and osteoarthritis (OA) patients and analyzed abnormal regulatory networks to identify the role of BM cells in RA.

Methods
Gene expression profiles (GEPs) in BM-derived mononuclear cells from 9 RA and 10 OA patients were obtained by DNA microarray. Up- and down-regulated genes were identified by comparing the GEPs from the two patient groups. Bioinformatics was performed by Expression Analysis Systemic Explorer (EASE) 2.0 based on gene ontology, followed by network pathway analysis with Ingenuity Pathways Analysis (IPA) 7.5.

Results
The BM mononuclear cells showed 764 up-regulated and 1,910 down-regulated genes in RA patients relative to the OA group. EASE revealed that the gene category response to external stimulus, which included the gene category immune response, was overrepresented by the up-regulated genes. So too were the gene categories signal transduction and phosphate metabolism. Down-regulated genes were dominantly classified in three gene categories: cell proliferation, which included mitotic cell cycle, DNA replication and chromosome cycle, and DNA metabolism. Most genes in these categories overlapped with each other. IPA analysis showed that the up-regulated genes in immune response were highly relevant to the antigen presentation pathway and to interferon signaling. The major histocompatibility complex (MHC) class I molecules, human leukocyte antigen (HLA)-E, HLA-F, and HLA-G, tapasin (TAP) and TAP binding protein, both of which are involved in peptide antigen binding and presentation via MHC class I molecules, are depicted in the immune response molecule networks. Interferon gamma and interleukin 8 were overexpressed and found to play central roles in these networks.

Conclusions
Abnormal regulatory networks in the immune response and cell cycle categories were identified in BM mononuclear cells from RA patients, indicating that the BM is pathologically involved in RA.
Factors influencing patient willingness to participate in genetic research after a myocardial infarction
Authors: Lanfear David E , Jones Philip G , Cresci Sharon , Tang Fengming , Rathore Saif S , Spertus John A 
Published: June 2011

Abstract
Background
Achieving 'personalized medicine' requires enrolling representative cohorts into genetic studies, but patient self-selection may introduce bias. We sought to identify characteristics associated with genetic consent in a myocardial infarction (MI) registry.

Methods
We assessed correlates of participation in the genetic sub-study of TRIUMPH, a prospective MI registry (n = 4,340) from 24 US hospitals between April 2005 and December 2008. Factors examined included extensive socio-demographics factors, clinical variables, and study site. Predictors of consent were identified using hierarchical modified Poisson regression, adjusting for study site. Variation in consent rates across hospitals were quantified by the median rate ratio (MRR).

Results
Most subjects consented to donation of their genetic material (n = 3,484; 80%). Participation rates varied greatly between sites, from 40% to 100%. After adjustment for confounding factors, the MRR for hospital was 1.22 (95% confidence interval (CI) 1.11 to 1.29). The only patient-level factors associated with consent were race (RR 0.93 for African Americans versus whites, 95% CI 0.88 to 0.99) and body mass index (RR 1.03 for BMI ≥ 25, 95% CI 1.01 to 1.06).

Conclusion
Among patients with an MI there were notable differences in genetic consent by study site, but little association with patient-level factors. This suggests that variation in the way information is presented during recruitment, or other site factors, strongly influence patients' decision to participate in genetic studies.
The Unity of Plato′s Meno. Reconstructing the Author′s Thoughts
Authors: Blössner Norbert 
Published: June 2011

Abstract
In Platonic dialogues the author’s reflections and intention are to be found not only in the statements of particular characters, but in the arrangement of the text as a whole. Not only does Plato decide what his main character says but he also chooses the reactions of his interlocutors, the progress and results of the conversation and whether his characters consider these results to be final answers. It seems that a Platonic dialogue could tell his reader more than what the interlocutors tell each other.
In my paper I try to reconstruct from discernible phenomena what the Meno is intended to tell us. My starting point is the question how the topics of this dialogue are connected with each other. Why did Plato present the question whether ἀρετή is teachable, the theory of recollection, the method of hypothesis and the distinction between knowledge and opinion in the same dialogue? Is the Meno to be considered as a collection of philosophical topics independent of each other, or did Plato see an interconnection between them? And how could this interconnection be described?
Die Seelentaube bei Prudentius
Authors: Gnilka Christian 
Published: June 2011

Abstract
Prudentius’s hymn on St. Eulalia suffers from an interpolated stanza (perist. 3, 171–175): the carnifices’s flight caused by the dove, i.e. the soul, leaving the mouth of the dying saint is an exaggeration not found anywhere else in the ancient acts and legends of the Christian martyrs. It disturbs the poem’s composition and violates the tenderness of its poetical invention. The spurious lines, though patched up with material borrowed from the author, show some weakness in expression and offer the problem of differentiating between satelles and lictor, a differentiation that was never made by the poet himself. The forged stanza was made up and included by an interpolator who wished to complete the poem’s storyline specifying a motive which had only been alluded to in the authentic poem (perist. 3, 13–15).
Competitive Foods, Discrimination, and Participation in the National School Lunch Program
Authors: Bhatia Rajiv , Jones Paula , Reicker Zetta 
Published: June 2011

Meals served through the National School Lunch Program (NSLP) must meet rigorous nutritional standards; however, barriers to student participation may limit the program's health and social equity benefits. Unsubsidized meals and food offerings competing with the NSLP offerings in school lunch environments may be lowering qualified student participation either directly or via identification of subsidized low-income students or stigmatization of the NSLP. We document a pilot intervention conducted in San Francisco in 2009 and 2010 that demonstrated gains in NSLP participation after removal of separate competitive à la carte lunch meal offerings. Our observations suggest the need for greater attention to the potential discriminatory effects of competitive foods and to the issue of stigma by school nutrition program administrators, researchers, regulators, and policymakers.
Estimating the Potential Health Impact and Costs of Implementing a Local Policy for Food Procurement to Reduce the Consumption of Sodium in the County of Los Angeles
Authors: Gase Lauren N. , Kuo Tony , Dunet Diane , Schmidt Steven M. , Simon Paul A. , Fielding Jonathan E. 
Published: June 2011

Objectives. We examined approaches to reduce sodium content of food served in settings operated or funded by the government of the County of Los Angeles, California. Methods. We adapted health impact assessment methods to mathematically simulate various levels of reduction in the sodium content of food served by the County of Los Angeles and to estimate the reductions’ potential impacts on mean systolic blood pressure (SBP) among food-service customers. We used data provided by county government food-service vendors to generate these simulations. Results. Our analysis predicted that if the postulated sodium-reduction strategies were implemented, adults would consume, on average, 233 fewer milligrams of sodium each day. This would correspond to an average decrease of 0.71 millimeters of mercury in SBP among adult hypertensives, 388 fewer cases of uncontrolled hypertension in the study population, and an annual decrease of $629 724 in direct health care costs. Conclusions. Our findings suggest that a food-procurement policy can contribute to positive health and economic effects at the local level. Our approach may serve as an example of sodium-reduction analysis for other jurisdictions to follow.
Short-Term Intensive Therapy in Newly Diagnosed Type 2 Diabetes Partially Restores Both Insulin Sensitivity and β-Cell Function in Subjects With Long-Term Remission
Authors: Hu Yun , Li Lirong , Xu Yu , Yu Tingting , Tong Guoyu , Huang Hong , Bi Yan , Weng Jianping , Zhu Dalong 
Published: June 2011

OBJECTIVE
To examine the effect of intensive glycemic control therapy (IT) on insulin sensitivity and β-cell function in newly diagnosed type 2 diabetic patients compared with subjects with normal glucose tolerance (NGT) and those with impaired glucose tolerance (IGT).

RESEARCH DESIGN AND METHODS
Forty-eight newly diagnosed type 2 diabetic patients were randomly assigned to IT for 2 weeks and followed up for 1 year. Intravenous glucose tolerance tests were conducted in NGT, IGT, and diabetic subjects. Blood glucose and insulin were measured before and after IT and at the 1-year follow-up.

RESULTS
IT lowered the homeostasis model assessment (HOMA) for insulin resistance (IR) significantly, from 3.12 ± 1.4 (mean ± SD) to 1.72 ± 0.8, a level comparable to the IGT (1.96 ± 1.1) and NGT (1.37 ± 0.6) subjects in the remission group; however, no HOMA-IR improvement was observed in nonremission subjects. HOMA-β in the remission group was improved (mean, interquartile range) from 18.4 (8.3–28.5) to 44.6 (32.1–69.1) and acute insulin response of insulin (AIRins) from 1.50 ± 0.22 to 1.83 ± 0.19 μIU/mL after IT, but was still significantly lower than those in NGT individuals (HOMA-β: 86.4 [56.7–185.2], P &lt; 0.01; AIRins: 2.54 ± 0.39 μIU/mL, P &lt; 0.01). After IT and at 1 year, the hyperbolic relationship between HOMA-β and HOMA sensitivity of remission subjects shifted close to that of IGT subjects.

CONCLUSIONS
IT in newly diagnosed type 2 diabetes not only partially restored β-cell function but also greatly restored insulin sensitivity. Compared with IGT and NGT subjects, β-cell function was less restored than insulin sensitivity after IT in the remission subjects.
Administration of Anesthetics Using Metal Syringes. An Ex Vivo Study
Authors: Tzafalia Maria , Sixou Jean-Louis 
Published: June 2011

Abstract
The aim of the present study was to assess injection flow rates of metal syringes, with an emphasis on injection speed and the generation of flow pulsations. A cohort of 64 operators (32 practitioners and 32 students) performed 3 consecutive ex vivo simulated injections (SIs) of 1.8-mL cartridges of anesthetic solution. Two needle diameters were tested (27-gauge and 30-gauge). Each SI was filmed and analyzed using a computer. In most cases, the SI lasted longer than 60 seconds with the 30-gauge needle (75%) but not with the 27-gauge needle (47.9%) (P < .0001). Practitioners and men delivered a full cartridge significantly faster than students and women, respectively (P  =  .0007 in both cases). All operators generated 1 pulse in at least 1 of the 3 SIs with both types of needles, especially during the first 3 seconds (254/384; 66.1%). Pulses occurred more frequently with practitioners (P  =  .0176) and with the 27-gauge needle (P  =  .005). Within its methodological limits, the present study showed how difficult it is to control injection pressure when using a metal syringe, especially at the beginning of the injection. Computerized systems may help overcome this problem.
Overcoming psychosocial barriers to maternal exercise: intervention strategies to improve participation and adherence
Authors: Schoenfeld Brad , Tiryaki-Sönmez Gül 
Published: June 2011

Overcoming psychosocial barriers to maternal exercise: intervention strategies to improve participation and adherence
Poor adherence to physical activity programmes during pregnancy is a serious national issue, one that has detrimental effects on a large percentage of the population. Not only does a lack of activity result in a decrease in quality of life for women during term, but the effects can carry over well after pregnancy, potentially leading to increased morbidity and mortality. What's more, reduced prenatal activity can cause adverse effects on the foetus, with impairments seen in physical health as well as cognition. Accordingly, the purpose of this paper is twofold: first, to examine the socio-demographic data and psychosocial influences that modify exercise behaviours in pregnant women and, second, to make recommendations as to effective intervention strategies that can be adopted by health and fitness professionals to help improve maternal exercise participation and adherence.
Impact of Ribavirin on HCV Replicon RNA Decline during Treatment with Interferon-α and the Protease Inhibitors Boceprevir or Telaprevir
Authors: Hofmann Wolf Peter , Chung Tje Lin , Osbahr Carola , Susser Simone , Karey Ursel , Mihm Ulrike , Welsch Christoph , Lötsch Jörn , Sarrazin Christoph , Zeuzem Stefan , Herrmann Eva 
Published: June 2011

Background Ribavirin increases early and sustained virological response rates in patients chronically infected with HCV who receive pegylated interferon-α and novel HCV protease inhibitors. Methods To better characterize antiviral efficacies of these upcoming therapies, Huh7 cells harbouring a subgenomic HCV replicon system were cultivated with various doses and combinations of ribavirin, interferon-α, and the protease inhibitors boceprevir and telaprevir. Antiviral efficacy parameters were estimated from HCV RNA decay, and synergistic effects of combination therapies were analysed with the Bliss independency model. Results Single-drug antiviral activities showed dose-dependent HCV RNA reductions in replicon cells (50% inhibitory concentration of 386.16 μM, 81.67 IU, 0.44 μM and 0.81 μM after 48 h for ribavirin, interferon-α, boceprevir and telaprevir, respectively). For the dual combination of ribavirin with either boceprevir or telaprevir, no deviation from additivity was observed, whereas the reduction of HCV RNA was synergistic for ribavirin with interferon-α ( P<0.001). Triple combinations with ribavirin, interferon-α and protease inhibitors showed the most profound HCV RNA decay. Conclusions The beneficial in vitro antiviral effect of ribavirin with interferon-α and novel HCV protease inhibitors demonstrates that ribavirin may be required as an antiviral backbone in the near future.
La parole comme soin : cancer et pluralisme thérapeutique
Authors: Rossi Ilario 
Published: June 2011

Face au cancer, toute personne atteinte se voit confrontée d’une manière ou d’une autre au domaine de la biomédecine, qui influe sur ses propres perceptions de la maladie. C’est pourquoi le possible recours à un pluralisme thérapeutique ne peut se comprendre qu’au travers de l’expérience de chaque individu ; ses choix et ses raisons nous en disent par ailleurs autant sur sa vision des thérapies non conventionnelles que sur sa conception de la réponse allopathique. Pour mieux cerner les enjeux de l’offre et de la demande, il devient alors nécessaire de comprendre le contexte dans lequel elles émergent. Afin d’en saisir la portée politique et juridique, cet article, en prenant comme référence le cas de la Suisse, s’attachera à éclairer la notion de choix à travers le concept de « capabilité », appliqué au monde de la santé. Par la suite, ce même pluralisme sera mis en perspective par le biais des récits des différents protagonistes. Plus particulièrement, en proposant une relecture de la notion de parole, l’attention sera portée sur ce qu’elle véhicule comme action, entre le dire et le faire. Les diverses conceptions des soins, leurs spécificités et leurs finalités, seront mises en dialogue. Ce panorama illustratif doit permettre de relier les paroles des thérapeutes aux conceptions des soins nourries par le sujet malade ; il sera alors possible de comprendre le pluralisme thérapeutique comme un procédé social qui, pour tout malade, fait converger, sous forme de processus, expérimentation du corps et émergence du sujet. Ce qui favorise le développement d’une stratégie culturelle en réponse aux incertitudes provoquées par la maladie.
De l’utilité d’une approche syntaxique en langue spécialisée : exemple de l’anglais économique
Authors: Resche Catherine 
Published: June 2011

Parler d’une approche syntaxique en langue spécialisée ne signifie pas autre chose que s’intéresser à l’usage particulier que fait la langue spécialisée de la syntaxe de la langue générale. Après avoir défini le champ d’action de l’approche syntaxique en langue spécialisée, l’anglais économique en ce qui nous concerne, et souligné les liens divers que la syntaxe entretient avec un certain nombre de domaines de recherche, nous illustrons par des exemples tirés d’un corpus composé de quatre ouvrages d’économistes reconnus la nécessité d’une réflexion sur la syntaxe. Pour rester dans des limites raisonnables, nous avons limité ces illustrations aux questions portant sur le verbe ; nous avons essayé de montrer comment l’approche syntaxique peut aider à repérer le verbe dans les phrases ambiguës, comprendre l’usage de certains temps, repenser le problème de la concordance des temps et familiariser le lecteur avec certaines structures qui s’écartent des emplois auxquels il est habitué.
A New One‐Pot Synthesis of Polysubstituted Indoles from Pyrroles and β‐Nitroacrylates
Authors: Palmieri Alessandro , Gabrielli Serena , Lanari Daniela , Vaccaro Luigi , Ballini Roberto 
Published: June 2011

AbstractThe reaction of β‐nitroacrylates with pyrroles, under solvent‐ and catalyst‐free conditions, allows the formation of Friedel–Crafts adducts which, after in situ treatment with Amberlyst 15 in isopropyl alcohol under reflux, provide polysubstituted indoles, via a benzannulation reaction, in a one‐pot process.
Copper‐Dipyridylphosphine‐Polymethylhydrosiloxane: A Practical and Effective System for the Asymmetric Catalytic Hydrosilylation of Ketones
Authors: Zhang Xi‐Chang , Wu Fei‐Fei , Li Shijun , Zhou Ji‐Ning , Wu Jing , Li Ning , Fang Wenjun , Lam Kim Hung , Chan Albert S. C. 
Published: June 2011

AbstractIn the presence of the inexpensive and non‐toxic stoichiometric reductant polymethylhydrosiloxane (PMHS), the chiral copper(II)‐dipyridylphosphine catalyst displayed high efficiency in the stereoselective hydrosilylation of a wide scope of aryl alkyl and heteroaromatic ketones under an air atmosphere and mild conditions in good to excellent ees (up to 97%). With certain amounts of sodium tert‐butoxide and tert‐butyl alcohol as additives, the reaction on a 21‐g substrate scale can be conveniently completed within a few hours even at a substrate‐to‐ligand (S/L) ratio of 50,000.