Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

Arthrogryposisrenal dysfunctioncholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apicalbasolateral polarity regulator (VIPAR). Cardinal features of ARC include congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past the first year of life. We report two patients presenting with a mild ARC phenotype, now 5.5 and 3.5 years old. Both patients were compound heterozygotes with the novel VPS33B donor splice-site mutation c.1225+5G>C in common. Immunoblotting and complementary DNA analysis suggest expression of a shorter VPS33B transcript, and cell-based assays show that c.1225+5G>C VPS33B mutant retains some ability to interact with VIPAR (and thus partial wild-type function). This study provides the first evidence of genotypephenotype correlation in ARC and suggests that VPS33B c.1225+5G>C mutation predicts a mild ARC phenotype. We have established an interactive online database for ARC (https://grenada.lumc.nl/LOVD2/ARC) comprising all known variants in VPS33B and VIPAR. Also included in the database are 15 novel pathogenic variants in VPS33B and five in VIPAR. Hum Mutat 33:16561664, 2012. (c) 2012 Wiley Periodicals, Inc.

Anomalous centrality evolution of two-particle angular correlations from Au-Au collisions at root s(NN)=62 and 200 GeV

We present two-dimensional (2D) two-particle angular correlations measured with the STAR detector on relative pseudorapidity eta and azimuth phi for charged particles from Au-Au collisions at root s(NN) = 62 and 200 GeV with transverse momentum p(t) >= 0.15 GeV/c, vertical bar eta vertical bar <= 1, and 2 pi in azimuth. Observed correlations include a same-side (relative azimuth <pi/2) 2D peak, a closely related away-side azimuth dipole, and an azimuth quadrupole conventionally associated with elliptic flow. The same-side 2D peak and away-side dipole are explained by semihard parton scattering and fragmentation (minijets) in proton-proton and peripheral nucleus-nucleus collisions. Those structures follow N-N binary-collision scaling in Au-Au collisions until midcentrality, where a transition to a qualitatively different centrality trend occurs within one 10% centrality bin. Above the transition point the number of same-side and away-side correlated pairs increases rapidly relative to binary-collision scaling, the eta width of the same-side 2D peak also increases rapidly (eta elongation), and the phi width actually decreases significantly. Those centrality trends are in marked contrast with conventional expectations for jet quenching in a dense medium. The observed centrality trends are compared to perturbative QCD predictions computed in HIJING, which serve as a theoretical baseline, and to the expected trends for semihard parton scattering and fragmentation in a thermalized opaque medium predicted by theoretical calculations and phenomenological models. We are unable to reconcile a semihard parton scattering and fragmentation origin for the observed correlation structure and centrality trends with heavy-ion collision scenarios that invoke rapid parton thermalization. If the collision system turns out to be effectively opaque to few-GeV partons the present observations would be inconsistent with the minijet picture discussed here. DOI: 10.1103/PhysRevC.86.064902

Measurements of D-0 and D* production in p plus p collisions at root s=200 GeV

We report measurements of charmed-hadron (D-0, D*) production cross sections at midrapidity in p + p collisions at a center-of-mass energy of 200 GeV by the STAR experiment. Charmed hadrons were reconstructed via the hadronic decays D-0 -> K- pi(+), D*(+) -> D-0 pi(+) -> K-pi(+)pi(+) and their charge conjugates, covering the p(T) range of 0.6-2.0 and 2.0-6.0 GeV/c for D-0 and D*(+), respectively. From this analysis, the charm-pair production cross section at midrapidity is d sigma/dy vertical bar(c (c) over bar)(y-0) = 170+/-45(stat)(-59)(+38()sys) mu b. The extracted charm-pair cross section is compared to perturbative QCD calculations. The transverse momentum differential cross section is found to be consistent with the upper bound of a fixed-order next-to-leading logarithm calculation.

Morphological, molecular and cross-breeding analysis of geographic populations of coconut-mite associated predatory mites identified as Neoseiulus baraki: evidence for cryptic species?

Surveys were conducted in Brazil, Benin and Tanzania to collect predatory mites as candidates for control of the coconut mite Aceria guerreronis Keifer, a serious pest of coconut fruits. At all locations surveyed, one of the most dominant predators on infested coconut fruits was identified as Neoseiulus baraki Athias-Henriot, based on morphological similarity with regard to taxonomically relevant characters. However, scrutiny of our own and published descriptions suggests that consistent morphological differences may exist between the Benin population and those from the other geographic origins. In this study, we combined three methods to assess whether these populations belong to one species or a few distinct, yet closely related species. First, multivariate analysis of 32 morphological characters showed that the Benin population differed from the other three populations. Second, DNA sequence analysis based on the mitochondrial cytochrome oxidase subunit I (COI) showed the same difference between these populations. Third, cross-breeding between populations was unsuccessful in all combinations. These data provide evidence for the existence of cryptic species. Subsequent morphological research showed that the Benin population can be distinguished from the others by a new character (not included in the multivariate analysis), viz. the number of teeth on the fixed digit of the female chelicera.

Energy and system-size dependence of two- and four-particle nu(2) measurements in heavy-ion collisions at root S-NN=62.4 and 200 GeV and their implications on flow fluctuations and nonflow

We present STAR measurements of azimuthal anisotropy by means of the two- and four-particle cumulants nu(2) (nu(2){2} and nu(2){4}) for Au + Au and Cu + Cu collisions at center-of-mass energies root S-NN = 62.4 and 200 GeV. The difference between nu(2){2}(2) and nu(2){4}(2) is related to nu(2) fluctuations (sigma(nu 2)) and nonflow (delta(2)). We present an upper limit to sigma(nu 2)/nu 2. Following the assumption that eccentricity fluctuations sigma(epsilon) dominate nu(2) fluctuations nu(2)/sigma nu(2) approximate to epsilon/sigma epsilon we deduce the nonflow implied for several models of eccentricity fluctuations that would be required for consistency with nu(2){2} and nu(2){4}. We also present results on the ratio of nu(2) to eccentricity.

Directed Flow of Identified Particles in Au plus Au Collisions at root S-NN=200 GeV at RHIC

STAR's measurements of directed flow (v(1)) around midrapidity for pi(+/-), K-+/-, K-S(0), p, and (p) over bar in Au + Au collisions at root s(NN) = 200 GeV are presented. A negative v(1) (y) slope is observed for most of produced particles (pi(+/-), K-+/-, K-S(0), p, and (p) over bar). In 5%-30% central collisions, a sizable difference is present between the v(1)(y) slope of protons and antiprotons, with the former being consistent with zero within errors. The v(1) excitation function is presented. Comparisons to model calculations (RQMD, UrQMD, AMPT, QGSM with parton recombination, and a hydrodynamics model with a tilted source) are made. For those models which have calculations of v(1) for both pions and protons, none of them can describe v(1()y) forpions and protons simultaneously. The hydrodynamics model with a tilted source as currently implemented cannot explain the centrality dependence of the difference between the v(1)(y) slopes of protons and antiprotons.

A comparison of non-HDL and LDL cholesterol goal attainment in a large, multinational patient population: The Lipid Treatment Assessment Project 2

Objective: This study evaluated the success in attaining non-HDL-cholesterol (non-HDL-C) goals in the multinational L-TAP 2 study. Methods: 9955 patients >= 20 years of age with dyslipidemia on stable lipid-lowering therapy were enrolled from nine countries. Results: Success rates for non-HDL-C goals were 86% in low, 70% in moderate, and 52% in high-risk patients (63% overall). In patients with triglycerides of >200 mg/dL success rates for non-HDL-C goals were 35% vs. 69% in those with <= 200 mg/dL (p < 0.0001). Among patients attaining their LDL-C goal, 18% did not attain their non-HDL-C goal. In those with coronary disease and at least two risk factors, only 34% and 30% attained respectively their non-HDL-C and LDL-C goals. Rates of failure in attaining both LDL-C and non-HDL-C goals were highest in Latin America. Conclusions: Non-HDL-C goal attainment lagged behind LDL-C goal attainment; this gap was greatest in higher-risk patients. (c) 2012 Elsevier Ireland Ltd. All rights reserved.

Il cinema in missione. La pratica cinematografica dei missionari italiani lungo il XX secolo tra apostolato e antropologia

The thesis reconstructs the cinema’s experience of Italian missionaries during the XX century in a historical-pragmatic key. Italian missionaries, who started producing movies around the Twenties, have used cinema as a helpful instrument for religious propaganda. They have considered the rules of the Catholic Church, the political and social context and the audience’s expectations. Each chapter (1-4) analyses the phenomenon inside the context constituted by the Italian colonial experiences, the relationship between Catholic Church and images during the Evangelization, the history of cinema and the history of missions. A specific chapter (chapter 5) is dedicated to the archives of missionary’s cinema and to the value to be assigned to this film production (in terms of social memory and archive’s memory). At the end of the first part, the thesis presents a proposal about the relationship between missionary’s cinema and visual anthropology. The second part of the thesis includes the film cards of the missionary’s movies preserved in Italy: 339 cards of Italian movies and 149 cards of foreign movies placed in different archives and bureaus.

Ernesto Buonaiuti e la rivista «Il Rinnovamento»

This work is about the modernist writer Ernesto Buonaiuti (1881-1946) in the early years of his cultural activity. He was suggested by Alfred Loisy's historical method and by William James pragmatism in philosophy. So he refused traditional religious education he received to become a catholic priest and started a long-life battle against Roman Catholic Church. My research tries to investigate the influence of pragmatism on Buonaiuti's thought, analyzing articles he published on the modernist review «Il Rinnovamento», from 1907 to 1909. Then I compared philosophical themes with other works by Buonaiuti, trying to focus the development of his way of thinking throught the years until the end. My conclusion: Buonaiuti was a religious pragmatist all over his life and many works he published after the modernist crisis can confirm it.

Muslime in Ruanda – von Marginalisierung zu Integration /// Arbeitspapiere / Institut für Ethnologie und Afrikastudien ; 74

Zwischen April und Juni 1994 wurden in dem kleinen zentralafrikanischen Land Ruanda ca. 800.000 Menschen ermordet worden. Die Mehrzahl der Opfer waren Tutsi, aber auch viele Hutu verloren ihr Leben. Nahezu jede internationale und nationale Organisation versagte im Angesicht des Ausmaßes der Tragödie. Auch die in Ruanda sehr einflussreiche katholische Kirche konnte oder wollte die Massaker nicht beenden. Einzig die in der ruandischen Geschichte bis zum Genozid immer marginalisierten Muslime verweigerten in der Mehrzahl eine Teilnahme an den Massakern. Warum es zu diesem Verhalten kam, steht als Ausgangsfrage zu Beginn der Untersuchung. Im Folgenden gliedert sich die Arbeit in drei Teile – Geschichte des Islam bis 1994, Verhalten der Muslime im Völkermord von 1994 und die Veränderungen in den zehn Jahren nach dem Genozid. Die Arbeit, welche sich auf die Ergebnisse einer zweimonatigen Feldforschung und einige ältere Arbeiten zum Thema stützt, macht deutlich, dass die Geschichte der ruandischen Muslime bis 1994 durch eine kontinuierliche Marginalisierung gekennzeichnet war. Als nach dem Völkermord das außergewöhnliche Verhalten der ruandischen Muslime langsam deutlich wurde, änderte sich bei vielen Menschen und auch bei offiziellen Stellen auch die Einstellung gegenüber Muslimen.

Shear behaviour of reinforced cconcrete slab under concentrated load: an investigation through non-linear and sequentially linear analysis

English: The assessment of safety in existing bridges and viaducts led the Ministry of Public Works of the Netherlands to finance a specific campaing aimed at the study of the response of the elements of these infrastructures. Therefore, this activity is focused on the investigation of the behaviour of reinforced concrete slabs under concentrated loads, adopting finite element modeling and comparison with experimental results. These elements are characterized by shear behaviour and crisi, whose modeling is, from a computational point of view, a hard challeng, due to the brittle behavior combined with three-dimensional effects. The numerical modeling of the failure is studied through Sequentially Linear Analysis (SLA), an alternative Finite Element method, with respect to traditional incremental and iterative approaches. The comparison between the two different numerical techniques represents one of the first works and comparisons in a three-dimensional environment. It's carried out adopting one of the experimental test executed on reinforced concrete slabs as well. The advantage of the SLA is to avoid the well known problems of convergence of typical non-linear analysis, by directly specifying a damage increment, in terms of reduction of stiffness and resistance in particular finite element, instead of load or displacement increasing on the whole structure . For the first time, particular attention has been paid to specific aspects of the slabs, like an accurate constraints modeling and sensitivity of the solution with respect to the mesh density. This detailed analysis with respect to the main parameters proofed a strong influence of the tensile fracture energy, mesh density and chosen model on the solution in terms of force-displacement diagram, distribution of the crack patterns and shear failure mode. The SLA showed a great potential, but it requires a further developments for what regards two aspects of modeling: load conditions (constant and proportional loads) and softening behaviour of brittle materials (like concrete) in the three-dimensional field, in order to widen its horizons in these new contexts of study.

Zielvereinbarungsgespräch und Leitungsaufgabe von katholischen Priestern

Die großen christlichen Kirchen in Deutschland befinden sich in einem strukturellen Umbruch, der sich zunehmend auf die Pastoral der örtlichen Pfarreien und Kirchengemeinden auswirkt. Durch die Einführung von Verfahren aus dem New Public Management erhoffen sich Kirchenleitungen beider Konfessionen eine innerkirchliche Personalentwicklung, die vor allem das hauptberufliche Seelsorgepersonal neu motivieren soll. Insbesondere in der katholischen Kirche soll so - in Verbindung mit einem möglichst missionarisch wirksamen Neuaufbruch - die Transformation der ehemals volkskirchlich geprägten Pfarrgemeinden in eine sich neu abzeichnende Sozialgestalt von Kirche als Netzwerk größerer pastoraler Einheiten unterstützt werden. Die vorliegende Arbeit untersucht an der interdisziplinären Schnittstelle von Organisationforschung und praktischer Theologie, inwieweit die Einführung von Zielvereinbarungsgesprächen (ZVG) führungsverantwortliche Priester in der Wahrnehmung ihrer Leitungsaufgabe stärkt. Über 300 leitende Priester aus den Erzbistümern Freiburg und Paderborn hatten an der empirischen Studie mit zwei Messzeitpunkten teilgenommen. 73 Priester waren an beiden Messzeitpunkten A (2007) und B (2008) beteiligt. Unmittelbar nach dem Zeitpunkt A besuchten die befragten Priester der Erzdiözese Freiburg eine ZVG-Einführungsschulung, der sich eine einjährige Gesprächspraxis anschloss. Die in der Erzdiözese Paderborn befragten Priester bildeten die Vergleichsgruppe (ohne entsprechendes Treatment).rn rnWesentliches Ergebnis der Studie sind empirische Hinweise auf signifikante Zusammenhänge zwischen dem priesterlichem Leitungsselbstverständnis, der ZVG-Umsetzung und der Einschätzung der eigenen Führungsqualität.rnrnIn den Selbsteinschätzungen der leitenden Priester (z.B. im Hinblick auf Leitungszufriedenheit, Bedeutung bzw. Gelingen von einzelnen Leitungs- und Gesprächsaspekten, etc.) zeigten sich zum Zeitpunkt A im Vergleich zwischen beiden Diözesen nur geringe Unterschiede. Dies gilt auch für die in A erfolgte Auswertung offener Fragen zum priesterlichen Selbstverständnis, welches als leitungs-amtliche Handlungs- und Objektorientierung in beiden Diözesen am wenigsten stark ausgeprägt war.Zum Zeitpunkt B verdeutlichte die Untersuchung des Tätigkeitsfelds Gemeindeleitung, dass dessen Bedeutung in Freiburg größer war als in Paderborn. Der hierfür erbrachte Kraft- bzw. Zeitaufwand war in Freiburg jedoch niedriger als in Paderborn, was als eine Frucht der verbindlichen ZVG-Einführung in Freiburg interpretiert werden kann. Deutlich wird auch, dass Priester, die der ZVG-Einführung eine hohe Bedeutung beimessen, mit ihren Mitarbeitern viele Gespräche planen. Weil Folgegespräche zum Zeitpunkt B im gleichen Umfang wie schon zum Zeitpunkt A geplant wurden, müssen die konkreten Gesprächserfahrungen in der A-Phase hinreichend positiv gewesen sein. Die Umsetzung zum Zeitpunkt B war jedoch nicht in dem zum Zeitpunkt A geplanten Maß erfolgt, was sich mit Prioritätsverschiebungen erklären lässt. Interessanterweise korreliert die Anzahl der geführten Zielvereinbarungsgespräche mit dem Dienst- und Lebensalter der Priester. Erfahrene Priester, die sich auf eine Mitarbeiterführung durch Zielvereinbarung einlassen, machen demnach gute Erfahrungen mit diesem Personalentwicklungsinstrument. rnrnInsgesamt können die Ergebnisse der Studie zu einer weiteren Kultivierung der Zielvereinbarungsgespräche im kirchlichen Dienst ermutigen. Bistümern, die noch keine Zielvereinbarungsgespräche eingeführt haben, kann eine Implementierung angeraten werden. rn

<>: per una filosofia di liberazione dell'uomo in Alberto Manzi latinoamericano

This dissertation is aimed at analysing deeply and thoroughly the most significant topics and features reflected in the Latin American literary work of Alberto Manzi. His almost thirty years of travelling and volunteering in the indigenous communities of South America formed a background of knowledge and experiences, which turned out to be crucial for the genesis of his Latin American trilogy. In the light of this, not only are ‘La luna nelle baracche’, ‘El loco’ and ‘E venne il sabato’ a speaking testimony of Manzi’s life and inner development, but they also offer a privileged perspective on the social, historical and religious situation of the people of Latin America. For a better understanding of the books, chapter one provides an extensive historical and economic commentary stretching over a century, from the collapse of the Spanish Empire to the rise of modern dictatorships in the late ‘70s, and the long democratic transition of the ‘80s. As far as the religious background is concerned, it is important to mention the influence of the liberation theology in the shaping of Manzi’s revolutionary thought. Indeed, chapter two identifies the precursors of the liberation theology, considers the effects of the Second Vatican Council on Latin America’s Catholic Church, and presents the methodology and the most powerful intuitions of the liberation theology. Finally, chapter three employs a critical analysis of Manzi’s Latin American trilogy, which focuses on his personal journal of his time in the austral continent, and Sonia and Giulia Manzi’s testimony published in a book entitled ‘Non è mai troppo tardi’. Chapter three provides an in-depth analysis of the evolution of the author’s revolutionary thought and plot dynamics; it discusses the psychological profile of the characters, the cultural features of the indigenous traditions, and the author’s urge to involve the readership in a permanent process of self-questioning.

The Little Metropolis: Religion, Politics, & Spolia

There have been numerous councils throughout the Catholic Church?s history. From the First Council of Nicaea in 325 CE to Vatican II in 1962, only a few centuries have passed without any major church doctrinal change. Following hand in hand with changes in doctrine came the bifurcation of the Christian Church into the Roman CatholicChurch and the Orthodox Church. The first split came in 325 CE with Arianism. Arius of Alexandria and his followers did not agree with the Catholic Church?s viewpoint that the son, Jesus, should be on equal footing with the Father and the Holy Spirit. Constantine the Great brought the Arianism debate to the First Council of Nicaea,which declared Arianism a heretical religion. The following Catholic council?s decisions separated the two Churches even more, eventually creating the formal separation of the Church during the East-West Schism in the middle of the 11th century. Although the twoChurches constantly tried to unite, the Churches hit speed bumps along the way. Eventually, the 1274 Second Council of Lyons officially united the two Churches, even if only for an ephemeral time. At first glance, it might not seem that much resulted from the 1274 Second Council of Lyons. Almost immediately after the council?s ruling, the two Churches split again. Little is known as to why the 1274 Second Council of Lyons ultimately failed in its unification attempt. In this thesis, I will examine the churches of the Little Metropolis at Athens, Merbaka in the Argolid, and Agioi Theodoroi in Athens. In detailing the architectural features of these buildings, I will reconstruct the church building program in association with the 1274 Second Council of Lyons. I will also compare these churchesusing historical sources to keep the sociological, religious, political, and historical context accurate.

Literature in Bosnia and Hercegovina till 19th Century in South Slav Context

Mr. Gajevic traced the development of literacy and literature in Bosnia and Herzegovina from the 12th to the 19th in relation to other south Slavic literatures and civilisations, studying their interrelations, links and influences. From the 12th to the 15th centuries, literature in this area developed under strong influence from the neighbouring South Slavic countries, which were directly connected with more developed foreign cultures and civilisations. The literatures of these countries had differing religious and cultural backgrounds, some developing under Byzantine and Orthodox influence and others as a part of Latin civilisation and the Catholic religion. This led to different and sometimes contradictory literary, religious and other influences on Bosnia and Herzegovina, making spiritual and religious unity for the country virtually impossible. Under the influence of the Bosnian state and church, however, there were signs of a search for compromise, leading to some mixing of the difference traditions. Following the Turkish conquest, however, three denominational communities (Orthodox, Catholic and Muslim) developed in Bosnia and Herzegovina and this became the general framework for life, including literature. This led to three separate literary traditions - Serb-Orthodox, Croat-Catholic and Bosniac-Islamic. This internal disintegration of Bosnian literature did however facilitate the process of integration of some of its denominational traditions with similar traditions in other countries. The third aspect considered in the research was the genesis and expansion of vernacular and folk literature from Bosnia and Herzegovina throughout the South Slavic areas and its contribution to the language and literature integration of four peoples - Serbs, Croats, Bosniacs and Montenegrins. Of special interest here were the aspirations of the Catholic church to establish the Bosnian language as the common South Slavic literary language for its religious and propaganda activities, and the contribution of Vuk Stefanovic Karadzic to the effort to establish the "Bosnian language" as the common literary language of the South Slavic peoples.