bluuebunny/crossref_metadata_2025_split huggingface dataset:
L'orientation en fin de 3e dans quatre collèges publics et privés : une analyse contextuelle
Authors: Périer Pierre , Rouillard Rozenn 
Published: July 2012

Le poids de l’origine sociale est déterminant dans la construction des inégalités de parcours et de réussite scolaires, mais le type d’établissement joue un rôle non négligeable, surtout pour les élèves moyens ou « justes » scolairement. À partir d'une enquête réalisée dans quatre collèges (deux publics et deux privés) en milieu rural, on s’intéresse à analyser ce qui, dans le contexte singulier de l’établissement, contribue à la production d’inégalités d’orientation en fin de 3e. La recherche consiste dans un premier temps à contrôler la sociologie et les résultats scolaires des élèves afin, dans un deuxième temps, de les rapprocher des vœux et décisions d’orientation. L’analyse des écarts consiste, en dernier lieu, à étudier les processus, normes et jugements qui, de l’intérieur des collèges et des conseils de classe en particulier, engendrent des disparités et inégalités rarement questionnées.
Highly resolved simulations of solids suspension in a small mixing tank
Authors: Derksen J.J. 
Published: July 2012

AbstractSimulations of solid–liquid flow in an agitated tank have been performed. The simulations fully resolve the mildly turbulent liquid flow (Re ≈ 2000) in the tank, and the spherical solid particles suspended in the liquid. Full resolution of the particles sets the grid spacing and thereby limits the tank size and the number of particles (up to 3600 in this article) that are computationally affordable. The solids volume fraction is some 8%. The lattice‐Boltzmann method has been used to solve the flow dynamics; the particles move under the influence of resolved hydrodynamic forces, unresolved lubrication forces, net gravity, and collisions (with other particles, the tank wall, and the impeller). We show the start‐up of the suspension process, demonstrate its dependency on a Shields number (that we interpret in terms of the Zwietering correlation) and show the impact of polydispersity on the suspension process. © 2012 American Institute of Chemical Engineers AIChE J, 58: 3266–3278, 2012
Occupation and the prevalence of current depression and frequent mental distress, WA BRFSS 2006 and 2008
Authors: Fan Z. Joyce , Bonauto David K. , Foley Michael P. , Anderson Naomi J. , Yragui Nanette L. , Silverstein Barbara A. 
Published: July 2012

AbstractBackgroundWorkers with depression and frequent mental distress (FMD) have lost work productivity. Limited systematic comparisons exist for the prevalence of depression and FMD across occupational groups.MethodsUsing a state‐added question for occupation coupled to measures of depression and FMD on the Washington State (WA) 2006 and 2008 Behavioral Risk Factor Surveillance System survey, we estimated the prevalence and odds ratios (ORs) among the 20,560 WA workers.ResultsThe prevalences of current depression and FMD were 5.2% and 7.5%, respectively. The prevalence varied considerably across occupations. Compared with Management occupation, Truck drivers had significantly increased odds for both current depression [OR = 6.18, 95% confidence interval (CI): 2.52–15.16] and FMD (OR = 1.85, 95% CI: 1.01–3.41). Cleaning/Building services (OR = 1.95, 95% CI: 1.11–3.40) and Protective services (OR = 1.97, 95% CI: 1.19–3.27) were associated with increased FMD.ConclusionsThese findings demonstrate the need for research on possible sources of the differences for current depression and FMD across occupations. Am. J. Ind. Med. 55:893–903, 2012. © 2012 Wiley Periodicals, Inc.
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
Authors: Bober Michael B. , Niiler Tim , Duker Angela L. , Murray Jennie E. , Ketterer Tara , Harley Margaret E. , Alvi Sabah , Flora Christina , Rustad Cecilie , Bongers Ernie M.H.F. , Bicknell Louise S. , Wise Carol , Jackson Andrew P. 
Published: July 2012

AbstractMicrocephalic primordial dwarfism (MPD) is a class of disorders characterized by intrauterine growth restriction (IUGR), impaired postnatal growth and microcephaly. Majewski osteodysplastic primordial dwarfism type II (MOPD II) is one of the more common conditions within this group. MOPD II is caused by truncating mutations in pericentrin (PCNT) and is inherited in an autosomal recessive manner. Detailed growth curves for length, weight, and OFC are presented here and derived from retrospective data from 26 individuals with MOPD II confirmed by molecular or functional studies. Severe pre‐ and postnatal growth failure is evident in MOPD II patients. The length, weight, and OFC at term (when corrected for gestational age) were −7.0, −3.9, and −4.6 standard deviation (SD) below the population mean and equivalent to the 50th centile of a 28–29‐, 31–32‐, and 30–31‐week neonate, respectively. While at skeletal maturity, the height, weight, and OFC were −10.3, −14.3, and −8.5 SD below the population mean and equivalent to the size of 3‐year 10‐ to 11‐month‐old, a 5‐year 2‐ to 3‐month‐old, and 5‐ to 6‐month‐old, respectively. During childhood, MOPD II patients grow with slowed, but fairly constant growth velocities and show no evidence of any pubertal growth spurt. Treatment with human growth hormone (n = 11) did not lead to any significant improvement in final stature. The growth charts presented here will be of assistance with diagnosis and management of MOPD II, and should have particular utility in nutritional management of MOPD II during infancy. © 2012 Wiley Periodicals, Inc.
Identification of the mechanism underlying a human chimera by SNP array analysis
Authors: Shin So Youn , Yoo Han‐Wook , Lee Beom Hee , Kim Kun Suk , Seo Eul‐Ju 
Published: July 2012

AbstractHuman chimerism resulting from the fusion of two different zygotes is a rare phenomenon. Two mechanisms of chimerism have been hypothesized: dispermic fertilization of an oocyte and its second polar body and dispermic fertilization of two identical gametes from parthenogenetic activation, and these can be identified and discriminated using DNA polymorphism. In the present study we describe a patient with chimerism presenting as a true hermaphrodite and applied single nucleotide polymorphism array analysis to demonstrate dispermic fertilization of two identical gametes from parthenogenetic activation as the underlying mechanism at the whole chromosome level. We suggest that application of genotyping array analysis to the diagnostic process in patients with disorders of sex development will help identify more human chimera patients and increase our understanding of the underlying mechanisms. © 2012 Wiley Periodicals, Inc.
Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions
Authors: Onesimo Roberta , Orteschi Daniela , Scalzone Maria , Rossodivita Aurora , Nanni Lorenzo , Zannoni Gian Franco , Marrocco Giacinto , Battaglia Domenica , Fundarò Carlo , Neri Giovanni 
Published: July 2012

AbstractDeletions of the short arm of chromosome 9 are associated with two distinct clinical entities. Small telomeric 9p24.3 deletions cause genital anomalies in male subjects, ranging from disorder of gonadal sex to genital differentiation anomalies, while large terminal or interstitial deletions result in 9p‐malformation syndrome phenotype. The critical region for non‐syndromic 46,XY sex reversal was assigned to a 1 Mb interval of chromosome 9p, extending from the telomere to theDMRTgenes cluster. The 9p‐syndrome was assigned to bands 9p22.3p24.1, but a phenotypic map has not been established for this condition, probably because of the lack of detailed molecular and/or phenotypic characterization, as well as frequent involvement of additional chromosome rearrangements. Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array‐CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p‐syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy. The observed deletion includes the 46,XY sex‐reversal critical region, excluding the region so far associated with the 9p‐syndrome. Genotype–phenotype correlations are tentatively established comparing our patient to seven other previously reported males with isolated terminal 9p deletions, finely defined at a molecular level. Our observations expand the 9p deletion clinical spectrum, and add significantly to the definition of a 9p‐syndrome critical region. © 2012 Wiley Periodicals, Inc.
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication
Authors: Rambaud Jérôme , Marey Isabelle , Dupont Céline , Perrin‐Sabourin Laurence , Capri Yline , Tabet Anne Claude , Benzacken Brigitte , Verloes Alain , Aboura Azzedine , Gérard Marion 
Published: July 2012

AbstractWe report on an 8‐month‐old girl with intra‐uterine growth retardation, microcephaly, incomplete cleft lip, axial hypotonia, failure to thrive, and brachydactyly type B (phalangeal agenesis and absence of nails). She carried a supernumerary marker chromosome derived from chromosomes 4 and 9, leading to 4pter‐q12 and 9pter‐p21.2 duplication. The marker was derived from the 3:1 segregation of a maternal balanced translocation 46,XX, t(4;9)(q12;p21.2). The proposita is the first reported individual with distal phalangeal agenesis and anonychia, and trisomy 4p and partial trisomy 9p due to 3:1 segregation of a maternal reciprocal translocation. © 2012 Wiley Periodicals, Inc.
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2
Authors: Tammachote Rachaneekorn , Kingsuwannapong Nelawat , Tongkobpetch Siraprapa , Srichomthong Chalurmpon , Yeetong Patra , Kingwatanakul Pornchai , Monico Carla G. , Suphapeetiporn Kanya , Shotelersuk Vorasuk 
Published: July 2012

AbstractPrimary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by mutations in the alanine:glyoxylate aminotransferase (AGXT) gene, located on chromosome 2q37. Mutant AGXT leads to excess production and excretion of oxalate, resulting in accumulation of calcium oxalate in the kidney, and progressive loss of renal function. Brachydactyly mental retardation syndrome (BDMR) is an autosomal dominant disorder, caused by haploinsufficiency of histone deacetylase 4 (HDAC4), also on chromosome 2q37. It is characterized by skeletal abnormalities and developmental delay. Here, we report on a girl who had phenotypes of both PH1 and BDMR. PCR‐sequencing of the coding regions of AGXT showed a novel missense mutation, c.32C>G (p.Pro11Arg) inherited from her mother. Functional analyses demonstrated that it reduced the enzymatic activity to 31% of the wild‐type and redirected some percentage of the enzyme away from the peroxisome. Microsatellite and array‐CGH analyses indicated that the proband had a paternal de novo telomeric deletion of chromosome 2q, which included HDAC4. To our knowledge, this is the first report of PH1 and BDMR, with a novel AGXT mutation and a de novo telomeric deletion of chromosome 2q. © 2012 Wiley Periodicals, Inc.
Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS)
Authors: Rand Casey M. , Yu Min , Jennings Lawrence J. , Panesar Kelvin , Berry‐Kravis Elizabeth M. , Zhou Lili , Weese‐Mayer Debra E. 
Published: July 2012

AbstractCongenital central hypoventilation syndrome (CCHS), a rare disorder characterized by alveolar hypoventilation and autonomic dysregulation, is caused by mutations in the PHOX2B gene. Most mutations occur de novo, but recent evidence suggests that up to 25% are inherited from asymptomatic parents with somatic mosaicism for these mutations. However, to date, germline mosaicism has not been reported. This report describes a family with recurrence of PHOX2B mutation‐confirmed CCHS due to germline mosaicism. The first occurrence was a baby girl, noted on day 2 of life to have multiple episodes of apnea, bradycardia, and cyanosis while breathing room air. PHOX2B gene testing confirmed the diagnosis of CCHS with a heterozygous polyalanine repeat expansion mutation (PARM); genotype 20/27 (normal 20/20). Both parents tested negative for this mutation using fragment analysis (limit of detection <1%). Upon subsequent pregnancy [paternity confirmed using short tandem repeat (STR) analysis], amniocentesis testing identified the PHOX2B 20/27 genotype, confirmed with repeat testing. Elective abortion was performed at 21.5 weeks gestation. Testing of abortus tissue confirmed amniocentesis testing. The PHOX2B 20/27 expansion was not observed in a paternal sperm sample. This case represents the first reported family with recurrence of PHOX2B mutation‐confirmed CCHS without detection of a parental carrier state or mosaicism, confirming the previously hypothesized possibility of germline mosaicism for PHOX2B mutations. This is an important finding for genetic counseling of CCHS families, suggesting that even if somatic mosaicism is not detected in parental samples, there is still reason for careful genetic counseling and consideration of prenatal testing during subsequent pregnancies. © 2012 Wiley Periodicals, Inc.
Outside‐binding site mutations modify the active site's shapes in neuraminidase from influenza A H1N1
Authors: Tolentino‐Lopez Luis , Segura‐Cabrera Aldo , Reyes‐Loyola Paola , Zimic Mirko , Quiliano Miguel , Briz Veronica , Muñoz‐Fernández Angeles , Rodríguez‐Pérez Mario , Ilizaliturri‐Flores Ian , Correa‐Basurto Jose 
Published: July 2012

AbstractThe recent occurrence of 2009 influenza A (H1N1) pandemic as well as others has raised concern of a far more dangerous outcome should this virus becomes resistant to current drug therapies. The number of clinical cases that are resistant to oseltamivir (Tamiflu®) is larger than the limited number of neuraminidase (NA) mutations (H275Y, N295S, and I223R) that have been identified at the active site and that are associated to oseltamivir resistance. In this study, we have performed a comparative analysis between a set of NAs that have the most representative mutations located outside the active site. The recently crystallized NA‐oseltamivir complex (PDB ID: 3NSS) was used as a wild‐type structure. After selecting the target NA sequences, their three‐dimensional (3D) structure was built using 3NSS as a template by homology modeling. The 3D NA models were refined by molecular dynamics (MD) simulations. The refined models were used to perform a docking study, using oseltamivir as a ligand. Furthermore, the docking results were refined by free‐energy analysis using the MM‐PBSA method. The analysis of the MD simulation results showed that the NA models reached convergence during the first 10 ns. Visual inspection and structural measures showed that the mutated NA active sites show structural variations. The docking and MM‐PBSA results from the complexes showed different binding modes and free energy values. These results suggest that distant mutations located outside the active site of NA affect its structure and could be considered to be a new source of resistance to oseltamivir, which agrees with reports in the clinical literature. © 2012 Wiley Periodicals, Inc.
Autotaxin/ENPP2 regulates oligodendrocyte differentiation in vivo in the developing zebrafish hindbrain
Authors: Yuelling Larra W. , Waggener Christopher T. , Afshari Fatemah S. , Lister James A. , Fuss Babette 
Published: July 2012

AbstractDuring development, progenitors that are committed to differentiate into oligodendrocytes, the myelinating cells of the central nervous system (CNS), are generated within discrete regions of the neuroepithelium. More specifically, within the developing spinal cord and hindbrain ventrally located progenitor cells that are characterized by the expression of the transcription factor olig2 give temporally rise to first motor neurons and then oligodendrocyte progenitors. The regulation of this temporal neuron‐glial switch has been found complex and little is known about the extrinsic factors regulating it. Our studies described here identified a zebrafish ortholog to mammalian atx, which displays evolutionarily conserved expression pattern characteristics. Most interestingly, atx was found to be expressed by cells of the cephalic floor plate during a time period when ventrally‐derived oligodendrocyte progenitors arise in the developing hindbrain of the zebrafish. Knock‐down of atx expression resulted in a delay and/or inhibition of the timely appearance of oligodendrocyte progenitors and subsequent developmental stages of the oligodendrocyte lineage. This effect of atx knock‐down was not accompanied by changes in the number of olig2‐positive progenitor cells, the overall morphology of the axonal network or the number of somatic abducens motor neurons. Thus, our studies identified Atx as an extrinsic factor that is likely secreted by cells from the floor plate and that is involved in regulating specifically the progression of olig2‐positive progenitor cells into lineage committed oligodendrocyte progenitors. © 2012 Wiley Periodicals, Inc.
The role of insulin‐like growth factors signaling in merlin‐deficient human schwannomas
Authors: Ammoun Sylwia , Schmid M. Caroline , Ristic Natalia , Zhou Lu , Hilton David , Ercolano Emanuela , Carroll Camille , Hanemann C. Oliver 
Published: July 2012

AbstractLoss of the tumor suppressor merlin causes development of the tumors of the nervous system, such as schwannomas, meningiomas, and ependymomas occurring spontaneously or as part of a hereditary disease Neurofibromatosis Type 2 (NF2). Current therapies, (radio) surgery, are not always effective. Therefore, there is a need for drug treatments for these tumors. Schwannomas are the most frequent of merlin‐deficient tumors and are hallmark for NF2. Using our in vitro human schwannoma model, we demonstrated that merlin‐deficiency leads to increased proliferation, cell–matrix adhesion, and survival. Increased proliferation due to strong activation of extracellular‐signal‐regulated kinase 1/2 (ERK1/2) is caused by overexpression/activation of platelet‐derived growth factor receptor‐β (PDGFR‐β) and ErbB2/3 which we successfully blocked with AZD6244, sorafenib, or lapatinib. Schwannoma basal proliferation is, however, only partly dependent on PDGFR‐β and is completely independent of ErbB2/3. Moreover, the mechanisms underlying pathological cell–matrix adhesion and survival of schwannoma cells are still not fully understood. Here, we demonstrate that insulin‐like growth factor‐I receptor (IGF‐IR) is strongly overexpressed and activated in human primary schwannoma cells. IGF‐I and ‐II are overexpressed and released from schwannoma cells. We show that ERK1/2 is relevant for IGF‐I‐mediated increase in proliferation and cell–matrix adhesion, c‐Jun N‐terminal kinases for increased proliferation and AKT for survival. We demonstrate new mechanisms involved in increased basal proliferation, cell–matrix adhesion, and survival of schwannoma cells. We identified therapeutic targets IGF‐IR and downstream PI3K for treatment of schwannoma and other merlin‐deficient tumors and show usefulness of small molecule inhibitors in our model. PI3K is relevant for both IGF‐IR and previously described PDGFR‐β signaling in schwannoma. © 2012 Wiley Periodicals, Inc.
Detecting the flow relationships between deep and shallow aquifers in an exploited groundwater system, using long‐term monitoring data and quantitative hydrogeology: the Acque Albule basin case (Rome, Italy)
Authors: La Vigna Francesco , Mazza Roberto , Capelli Giuseppe 
Published: July 2012

AbstractFive years of hydrogeological monitoring and field activities performed in the complex hydrogeological system of the Acque Albule basin (AAB) were conducted to define the hydrogeological setting, the relationship between deep and shallow aquifers and a conceptual groundwater flow model of this exploited area using conventional quantitative techniques. The basin, which is located close to Rome (Italy) on the west side of the Apennine chain and just north of the Colli Albani volcano, subsided after development of a north–south fault system (about 115 000 y bp). The AAB experiences intense hydrothermal activity, which has produced a large travertine deposit (80‐m thick). The travertine deposit constitutes a fractured aquifer that is the final destination of more than 5 m3 s‐1 of water and is strongly dewatered by quarry activities.The complex hydrogeology of this basin was investigated, revealing two main hydraulically connected aquifers, one thermalised and partly confined into the limestone bedrock and one unconfined in the travertine. The two aquifers are separated by a non‐continuous clayey aquiclude. The hydrogeological survey and geological characterisation contributed to the development of the groundwater flow conceptual model. Analysis and comparison of the monitored levels highlighted the pattern of flow between the deep and shallow parts of the flow system. Copyright © 2012 John Wiley & Sons, Ltd.
Type 1 IFN inhibits the growth factor deprived apoptosis of cultured human aortic endothelial cells and protects the cells from chemically induced oxidative cytotoxicity
Authors: Sano Emiko , Tashiro Shinnya , Tadakuma Hisashi , Takei Toshiaki , Ueda Takuya , Tsumoto Kouhei 
Published: July 2012

AbstractIt has been shown that the genesis of atherosclerotic lesions is resulted from the injury of vascular endothelial cells and the cell damage is triggered by oxygen radicals generated from various tissues. Human vascular endothelial cells can survive and proliferate depending on growth factors such as VEGF or basic FGF and are induced apoptosis by the deprivation of growth factor or serum. It was found that type 1 IFN inhibits the growth factor deprived cell death of human aortic endothelial cells (HAEC) and protects the cells from chemically induced oxidative cytotoxicity. The anti‐apoptotic effects of type 1 IFN were certified by flow cytometry using annexin‐V‐FITC/PI double staining and cell cycle analysis, fluorescence microscopy using Hoechst33342 and PI, colorimetric assay for caspase‐3 activity, p53 and bax mRNA expressions, and cell counts. It was considered that IFN‐β inhibits the executive late stage apoptosis from the results of annexin‐V‐FITC/PI double staining and the inhibition of caspase‐3 activity, and that the anti‐apoptotic effect might be owing to the direct inhibition of the apoptotic pathway mediated by p53 from the transient down‐regulation of bax mRNA expression. Whereas, type 1 IFN protected the cells from the oxidative cytotoxicity induced by tertiary butylhydroperoxide (TBH) under the presence of Ca2+. The effects of IFN‐β is more potent inhibitor of cell death than IFN‐α. These results indicate that type 1 IFN, especially IFN‐β may be useful for the diseases with vascular endothelium damage such as atherosclerosis or restenosis after angioplasty as a medical treatment or a prophylactic. J. Cell. Biochem. 113: 3823–3834, 2012. © 2012 Wiley Periodicals, Inc.